1
40
29
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.3171/2011.8.PEDS11153" target="_blank" rel="noreferrer noopener">http://doi.org/10.3171/2011.8.PEDS11153</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Deep brain stimulation in children: experience and technical pearls
Publisher
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Journal of Neurosurgery - Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Subject
The topic of the resource
Adolescent; Adult; Age; Factors Brain/pa [Pathology]; Brain/ra [Radiography]; Child; Preschool; Deep Brain Stimulation/ae [Adverse Effects]; Deep Brain Stimulation/mt [Methods]; Dystonia/pp [Physiopathology]; Dystonia/th [Therapy]; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Movement; Retrospective Studies; Tomography; X-Ray Computed Treatment Outcome; tone and motor problems; Glutaric acidemia type I; Lesch-Nyhan syndrome; deep brain stimulation; secondary dystonia
Creator
An entity primarily responsible for making the resource
Air E L; Ostrem J L; Sanger T D; Starr P A
Description
An account of the resource
OBJECT: Deep brain stimulation (DBS) is an established technique for the treatment of several movement disorders in adults. However, the technical approach, complications, and results of DBS in children have not been well documented. METHODS: A database of DBS implantations performed at a single institution, prospectively established in 1998, was reviewed for patients who received DBS prior to the age of 18. Diagnoses, surgical technique, and complications were noted. Outcomes were assessed using standard rating scales of neurological function. RESULTS: Of 815 patients undergoing DBS implantation over a 12-year period, 31 were children (mean age at surgery 13.2 years old, range 4-17 years old). Diagnoses included the following: DYT1 primary dystonia (autosomal dominant, Tor1ADELTAGAG mutation, 10 cases), non-DYT1 primary dystonia (3 cases), secondary dystonia (11 cases), neurodegeneration with brain iron accumulation (NBIA, 3 cases), levodopa-responsive parkinsonism (2 cases), Lesch-Nyhan disease (1 case), and glutaric aciduria Type 1 (1 case). Six children ages 15-17 years old underwent awake microelectrode-guided surgery. For 25 children operated under general anesthesia, the surgical technique evolved from microelectrode-guided surgery to image-guided surgeries using real-time intraoperative MR imaging or CT for lead location confirmation. Complications included 5 hardware infections, all in children younger than 10 years old. At 1 year after implantation, patients with DYT1 dystonia had a mean improvement in the Burke-Fahn-Marsden Dystonia Rating Scale movement subscore of 75%, while those with secondary dystonia had only small improvements. Outcomes in the 3 children with NBIA were disappointing. CONCLUSIONS: Results of DBS in children with primary and secondary dystonias were similar to those in adults, with excellent results for DYT1 dystonia in children without fixed orthopedic deformity and much more modest results in secondary dystonia. In contrast to reported experience in adults with NBIA, these results in children with NBIA were poor. Infection risk was highest in the youngest patients.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.3171/2011.8.PEDS11153" target="_blank" rel="noreferrer noopener">10.3171/2011.8.PEDS11153</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2011
Adolescent
Adult
Age
Air E L
Brain/ra [Radiography]
Child
deep brain stimulation
Deep Brain Stimulation/ae [Adverse Effects]
Deep Brain Stimulation/mt [Methods]
Dystonia/pp [Physiopathology]
Dystonia/th [Therapy]
Factors Brain/pa [Pathology]
Female
Follow-up Studies
Glutaric acidemia type I
Humans
Journal of Neurosurgery - Pediatrics
Lesch-Nyhan syndrome
Magnetic Resonance Imaging
Male
Movement
Ostrem J L
Preschool
Retrospective Studies
Sanger T D
secondary dystonia
Starr P A
Tomography
tone and motor problems
X-Ray Computed Treatment Outcome
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/mds.21812" target="_blank" rel="noreferrer">http://doi.org/10.1002/mds.21812</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases
Publisher
An entity responsible for making the resource available
Movement Disorders: Official Journal Of The Movement Disorder Society
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Disease Progression; Age Factors; Severity of Illness Index; Magnetic Resonance Imaging; adolescent; Q3 Literature Search; Diagnosis; Differential; Chromosomes; Human; Electroencephalography; Atrophy/complications/pathology; Auditory; Brain Stem/physiology; Brain/pathology/physiopathology; Cerebellar Ataxia/complications/diagnosis; Cerebellum/pathology/physiopathology; Dementia/complications/diagnosis; Dystonia/complications/diagnosis; Electromyography; Evoked Potentials; Evoked Potentials/physiology; Myoclonus/complications/diagnosis; Neuropsychological Tests; Pair 21/genetics; Seizures/complications/diagnosis; Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
Creator
An entity primarily responsible for making the resource
Chew NK; Mir P; Edwards MJ; Cordivari C; Martino D; Schneider SA; Kim HT; Quinn NP; Bhatia KP
Description
An account of the resource
We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
2008
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/mds.21812" target="_blank" rel="noreferrer">10.1002/mds.21812</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2008
Adolescent
Adult
Age Factors
Atrophy/complications/pathology
Auditory
Backlog
Bhatia KP
Brain Stem/physiology
Brain/pathology/physiopathology
Cerebellar Ataxia/complications/diagnosis
Cerebellum/pathology/physiopathology
Chew NK
Child
Chromosomes
Cordivari C
Dementia/complications/diagnosis
Diagnosis
Differential
Disease Progression
Dystonia/complications/diagnosis
Edwards MJ
Electroencephalography
Electromyography
Evoked Potentials
Evoked Potentials/physiology
Female
Human
Humans
Journal Article
Kim HT
Magnetic Resonance Imaging
Male
Martino D
Mir P
Movement Disorders: Official Journal Of The Movement Disorder Society
Myoclonus/complications/diagnosis
Neuropsychological Tests
Pair 21/genetics
Q3 Scoping Review Results
Quinn NP
Schneider SA
Seizures/complications/diagnosis
Severity Of Illness Index
Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1200/JCO.2008.20.4388" target="_blank" rel="noreferrer">http://doi.org/10.1200/JCO.2008.20.4388</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Neurocutaneous melanosis: a fatal disease in early childhood
Publisher
An entity responsible for making the resource available
Journal Of Clinical Oncology
Date
A point or period of time associated with an event in the lifecycle of the resource
2009
Subject
The topic of the resource
Female; Humans; Magnetic Resonance Imaging; infant; Hal's Folder; Melanosis/pathology; Neurocutaneous Syndromes/pathology
Creator
An entity primarily responsible for making the resource
Livingstone E; Claviez A; Spengler D; Barth H; Stark AM; Hugo HH; Hauschild A
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1200/JCO.2008.20.4388" target="_blank" rel="noreferrer">10.1200/JCO.2008.20.4388</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
2009
2009
Backlog
Barth H
Claviez A
Female
Hal's Folder
Hauschild A
Hugo HH
Humans
Infant
Journal Article
Journal Of Clinical Oncology
Livingstone E
Magnetic Resonance Imaging
Melanosis/pathology
Neurocutaneous Syndromes/pathology
Spengler D
Stark AM
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1542/peds.2007-3313" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.2007-3313</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Pediatric cardiopulmonary resuscitation: advances in science, techniques, and outcomes
Publisher
An entity responsible for making the resource available
Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Child; Humans; infant; Prognosis; Extracorporeal Membrane Oxygenation; Life Support Care; Magnetic Resonance Imaging; Animals; Blood Pressure; Regional Blood Flow; Vascular Resistance; quality of life; Newborn; Premature; cardiopulmonary resuscitation; S100 Proteins/blood; Heart Arrest/epidemiology/mortality/physiopathology/therapy; Nerve Growth Factors/blood; No-Reflow Phenomenon/physiopathology; Ventricular Fibrillation/epidemiology/physiopathology
Creator
An entity primarily responsible for making the resource
Topjian AA; Berg RA; Nadkarni VM
Description
An account of the resource
More than 25% of children survive to hospital discharge after in-hospital cardiac arrests, and 5% to 10% survive after out-of-hospital cardiac arrests. This review of pediatric cardiopulmonary resuscitation addresses the epidemiology of pediatric cardiac arrests, mechanisms of coronary blood flow during cardiopulmonary resuscitation, the 4 phases of cardiac arrest resuscitation, appropriate interventions during each phase, special resuscitation circumstances, extracorporeal membrane oxygenation cardiopulmonary resuscitation, and quality of cardiopulmonary resuscitation. The key elements of pathophysiology that impact and match the timing, intensity, duration, and variability of the hypoxic-ischemic insult to evidence-based interventions are reviewed. Exciting discoveries in basic and applied-science laboratories are now relevant for specific subpopulations of pediatric cardiac arrest victims and circumstances (eg, ventricular fibrillation, neonates, congenital heart disease, extracorporeal cardiopulmonary resuscitation). Improving the quality of interventions is increasingly recognized as a key factor for improving outcomes. Evolving training strategies include simulation training, just-in-time and just-in-place training, and crisis-team training. The difficult issue of when to discontinue resuscitative efforts is addressed. Outcomes from pediatric cardiac arrests are improving. Advances in resuscitation science and state-of-the-art implementation techniques provide the opportunity for further improvement in outcomes among children after cardiac arrest.
2008
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.2007-3313" target="_blank" rel="noreferrer">10.1542/peds.2007-3313</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2008
Animals
Backlog
Berg RA
Blood Pressure
Cardiopulmonary Resuscitation
Child
Extracorporeal Membrane Oxygenation
Heart Arrest/epidemiology/mortality/physiopathology/therapy
Humans
Infant
Journal Article
Life Support Care
Magnetic Resonance Imaging
Nadkarni VM
Nerve Growth Factors/blood
Newborn
No-Reflow Phenomenon/physiopathology
Pediatrics
Premature
Prognosis
Quality Of Life
Regional Blood Flow
S100 Proteins/blood
Topjian AA
Vascular Resistance
Ventricular Fibrillation/epidemiology/physiopathology
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1001/jama.296.13.1602" target="_blank" rel="noreferrer">http://doi.org/10.1001/jama.296.13.1602</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Clinical and MRI correlates of cerebral palsy: the European Cerebral Palsy Study
Publisher
An entity responsible for making the resource available
Jama
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Cross-Sectional Studies; Female; Humans; infant; Male; Pregnancy; Pregnancy Complications; Risk Factors; Magnetic Resonance Imaging; Preschool; infant; Newborn; Premature; Brain/pathology; Cerebral Palsy/epidemiology/etiology/physiopathology; Delivery; Infectious; Multiple; Obstetric
Creator
An entity primarily responsible for making the resource
Bax M; Tydeman C; Flodmark O
Description
An account of the resource
CONTEXT: Magnetic resonance imaging (MRI) findings have been reported for specific clinical cerebral palsy (CP) subgroups or lesion types but not in a large population of children with all CP subtypes. Further information about the causes of CP could help identify preventive strategies. OBJECTIVE: To investigate the correlates of CP in a population sample and compare clinical findings with information available from MRI brain studies. DESIGN AND SETTING: Cross-sectional, population-based investigative study conducted in 8 European study centers (North West London and North East London, England; Edinburgh, Scotland; Lisbon, Portugal; Dublin, Ireland; Stockholm, Sweden; Tubingen, Germany; and Helsinki, Finland). PARTICIPANTS: Five hundred eighty-five children with CP were identified who had been born between 1996 and 1999; 431 children were clinically assessed and 351 had a brain MRI scan. MAIN OUTCOME MEASURES: Standardized clinical examination results, parental questionnaire responses, MRI results, and obstetric, genetic, and metabolic data from medical records. RESULTS: Important findings include the high rate of infections reported by mothers during pregnancy (n = 158 [39.5%]). In addition, 235 children (54%) were born at term while 47 children (10.9%) were very preterm (<28 weeks). A high rate of twins was found, with 51 children (12%) known to be from a multiple pregnancy. Clinically, 26.2% of children had hemiplegia, 34.4% had diplegia, 18.6% had quadriplegia, 14.4% had dyskinesia, 3.9% had ataxia, and 2.6% had other types of CP. Brain MRI scans showed that white-matter damage of immaturity, including periventricular leukomalacia (PVL), was the most common finding (42.5%), followed by basal ganglia lesions (12.8%), cortical/subcortical lesions (9.4%), malformations (9.1%), focal infarcts (7.4%), and miscellaneous lesions (7.1%). Only 11.7% of these children had normal MRI findings. There were good correlations between the MRI and clinical findings. CONCLUSIONS: These MRI findings suggest that obstetric mishaps might have occurred in a small proportion of children with CP. A systematic approach to identifying and treating maternal infections needs to be developed. Multiple pregnancies should be monitored closely, and the causes of infant stroke need to be investigated further so preventive strategies can be formulated. All children with CP should have an MRI scan to provide information on the timing and extent of the lesion.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1001/jama.296.13.1602" target="_blank" rel="noreferrer">10.1001/jama.296.13.1602</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2006
Backlog
Bax M
Brain/pathology
Cerebral Palsy/epidemiology/etiology/physiopathology
Child
Cross-sectional Studies
Delivery
Female
Flodmark O
Humans
Infant
Infectious
JAMA
Journal Article
Magnetic Resonance Imaging
Male
Multiple
Newborn
Obstetric
Pregnancy
Pregnancy Complications
Premature
Preschool
Risk Factors
Tydeman C
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1001/jama.296.13.1650" target="_blank" rel="noreferrer">http://doi.org/10.1001/jama.296.13.1650</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Complexity of the cerebral palsy syndromes: toward a developmental neuroscience approach
Publisher
An entity responsible for making the resource available
Jama
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Humans; Magnetic Resonance Imaging; Preschool; Brain/pathology; Cerebral Palsy/physiopathology
Creator
An entity primarily responsible for making the resource
Msall ME
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1001/jama.296.13.1650" target="_blank" rel="noreferrer">10.1001/jama.296.13.1650</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
2006
2006
Backlog
Brain/pathology
Cerebral Palsy/physiopathology
Child
Humans
JAMA
Journal Article
Magnetic Resonance Imaging
Msall ME
Preschool
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.20702</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Clinical and biochemical spectrum of D-bifunctional protein deficiency
Publisher
An entity responsible for making the resource available
Annals Of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Humans; Cohort Studies; Questionnaires; Longitudinal Studies; Magnetic Resonance Imaging; Preschool; infant; Lipid Metabolism; 3-Hydroxyacyl CoA Dehydrogenases/deficiency; Blood Chemical Analysis; Bone and Bones/anatomy & histology/pathology; Brain/anatomy & histology/pathology; Enoyl-CoA Hydratase/deficiency; Fibroblasts/cytology/metabolism; Inborn Errors; Isomerases/deficiency; Kidney/anatomy & histology/pathology; Life Expectancy; Liver/anatomy & histology/pathology; Multienzyme Complexes/deficiency; Peroxisomal Disorders/classification/pathology/physiopathology
Creator
An entity primarily responsible for making the resource
Ferdinandusse S; Denis S; Mooyer PA; Dekker C; Duran M; Soorani-Lunsing RJ; Boltshauser E; Macaya A; Gartner J; Majoie CB; Barth PG; Wanders RJ; Poll-The BT
Description
An account of the resource
OBJECTIVE: D-bifunctional protein deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. Although case reports and small series of patients have been published, these do not give a complete and balanced picture of the clinical and biochemical spectrum associated with this disorder. METHODS: To improve early recognition, diagnosis, prognosis, and management of this disorder and to provide markers for life expectancy, we performed extensive biochemical studies in a large cohort of D-bifunctional protein-deficient patients and sent out questionnaires about clinical signs and symptoms to the responsible physicians. RESULTS: Virtually all children presented with neonatal hypotonia and seizures and died within the first 2 years of life without achieving any developmental milestones. However, within our cohort, 12 patients survived beyond the age of 2 years, and detailed information on 5 patients with prolonged survival (> or =7.5 years) is provided. INTERPRETATION: Biochemical analyses showed that there is a clear correlation between several biochemical parameters and survival of the patient, with C26:0 beta-oxidation activity in cultured skin fibroblasts being the best predictive marker for life expectancy. Remarkably, three patients were identified without biochemical abnormalities in plasma, stressing that D-bifunctional protein deficiency cannot be excluded when all peroxisomal parameters in plasma are normal.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">10.1002/ana.20702</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2006
3-Hydroxyacyl CoA Dehydrogenases/deficiency
Annals Of Neurology
Backlog
Barth PG
Blood Chemical Analysis
Boltshauser E
Bone and Bones/anatomy & histology/pathology
Brain/anatomy & histology/pathology
Child
Cohort Studies
Dekker C
Denis S
Duran M
Enoyl-CoA Hydratase/deficiency
Ferdinandusse S
Fibroblasts/cytology/metabolism
Gartner J
Humans
Inborn Errors
Infant
Isomerases/deficiency
Journal Article
Kidney/anatomy & histology/pathology
Life Expectancy
Lipid Metabolism
Liver/anatomy & histology/pathology
Longitudinal Studies
Macaya A
Magnetic Resonance Imaging
Majoie CB
Mooyer PA
Multienzyme Complexes/deficiency
Peroxisomal Disorders/classification/pathology/physiopathology
Poll-The BT
Preschool
Questionnaires
Soorani-Lunsing RJ
Wanders RJ
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1111/j.1460-9592.2006.01918.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1460-9592.2006.01918.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Abdominal pain related to mitochondrial neurogastrointestinal encephalomyopathy syndrome may benefit from splanchnic nerve blockade
Publisher
An entity responsible for making the resource available
Paediatric Anaesthesia
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Humans; Male; Magnetic Resonance Imaging; Nerve Block; Anesthetics; adolescent; Electromyography; Neurologic Examination; Analgesics/therapeutic use; Local; Amines/therapeutic use; Cyclohexanecarboxylic Acids/therapeutic use; gamma-Aminobutyric Acid/therapeutic use; Abdominal Pain/etiology/therapy; Gastrointestinal Diseases/complications/radiography; Mitochondrial Encephalomyopathies/complications/radiography; Paresthesia/etiology; Prilocaine; Splanchnic Nerves
Creator
An entity primarily responsible for making the resource
Celebi N; Sahin A; Canbay O; Uzumcugil F; Aypar U
Description
An account of the resource
Patients diagnosed with abdominal pain related to mitochondrial neurogastrointestinal encephalopathy (MNGIE) may benefit from splanchnic nerve blockade. MNGIE, varying in age of onset and rate of progression, is caused by loss of function mutation in thymidine phosphorylase gene. Gastrointestinal dysmotility, pseudo-obstruction and demyelinating sensorimotor peripheral neuropathy (stocking-glove sensory loss, absent tendon reflexes, distal limb weakness, and wasting) are the most prominent manifestations. Patients usually die in early adulthood (mean 37.6 years; range 26-58 years). We report a case of an 18-year-old patient with MNGIE. Our patient's abdominal pain was relieved after splanchnic nerve blockade.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1460-9592.2006.01918.x" target="_blank" rel="noreferrer">10.1111/j.1460-9592.2006.01918.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2006
Abdominal Pain/etiology/therapy
Adolescent
Amines/therapeutic use
Analgesics/therapeutic use
Anesthetics
Aypar U
Backlog
Canbay O
Celebi N
Cyclohexanecarboxylic Acids/therapeutic use
Electromyography
gamma-Aminobutyric Acid/therapeutic use
Gastrointestinal Diseases/complications/radiography
Humans
Journal Article
Local
Magnetic Resonance Imaging
Male
Mitochondrial Encephalomyopathies/complications/radiography
Nerve Block
Neurologic Examination
Paediatric Anaesthesia
Paresthesia/etiology
Prilocaine
Sahin A
Splanchnic Nerves
Uzumcugil F
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1212/01.WNL.0000167428.12417.B2" target="_blank" rel="noreferrer">http://doi.org/10.1212/01.WNL.0000167428.12417.B2</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
Publisher
An entity responsible for making the resource available
Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Humans; Male; Aged; Treatment Outcome; Disease Progression; Magnetic Resonance Imaging; Food; Q3 Literature Search; Brain Diseases; Age of Onset; DNA Mutational Analysis; Mutation/genetics; Metabolic; Atrophy/enzymology/genetics/physiopathology; Carnitine/therapeutic use; Cerebral Cortex/enzymology/pathology/physiopathology; Cognition Disorders/enzymology/genetics/physiopathology; Formulated; Glutaryl-CoA Dehydrogenase/deficiency; Inborn/enzymology/genetics/physiopathology; Lateral Ventricles/pathology; Movement Disorders/enzymology/genetics/physiopathology; Myelinated/pathology; Nerve Fibers
Creator
An entity primarily responsible for making the resource
Kulkens S; Harting I; Sauer S; Zschocke J; Hoffmann GF; Gruber S; Bodamer OA; Kolker S
Description
An account of the resource
Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.
2005
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/01.WNL.0000167428.12417.B2" target="_blank" rel="noreferrer">10.1212/01.WNL.0000167428.12417.B2</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2005
Age of Onset
Aged
Atrophy/enzymology/genetics/physiopathology
Backlog
Bodamer OA
Brain Diseases
Carnitine/therapeutic use
Cerebral Cortex/enzymology/pathology/physiopathology
Cognition Disorders/enzymology/genetics/physiopathology
Disease Progression
DNA Mutational Analysis
Food
Formulated
Glutaryl-CoA Dehydrogenase/deficiency
Gruber S
Harting I
Hoffmann GF
Humans
Inborn/enzymology/genetics/physiopathology
Journal Article
Kolker S
Kulkens S
Lateral Ventricles/pathology
Magnetic Resonance Imaging
Male
Metabolic
Movement Disorders/enzymology/genetics/physiopathology
Mutation/genetics
Myelinated/pathology
Nerve Fibers
Neurology
Q3 Scoping Review Results
Sauer S
Treatment Outcome
Zschocke J
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16557139" target="_blank" rel="noreferrer">http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16557139</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Bone scan as a screening tool in children and adolescents with back pain
Publisher
An entity responsible for making the resource available
Journal of Pediatric Orthopaedics
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Female; Humans; Male; Magnetic Resonance Imaging; adolescent; Preschool; PedPal Lit; infant; retrospective studies; Bone and Bones/radionuclide imaging; Back Pain/etiology/radionuclide imaging; Bone Neoplasms/complications/epidemiology/radionuclide imaging; Radiopharmaceuticals/diagnostic use; Spondylolysis/complications/epidemiology/radionuclide imaging; Technetium/diagnostic use
Creator
An entity primarily responsible for making the resource
Sanpera I; Beguiristain-Gurpide JL
Description
An account of the resource
Retrospective review of 142 patients from 2 teaching hospitals, investigated for persistent backache. The inclusion criteria were to be up to 18 years, to have no known associated diseases, and to have had a bone scan as a part of their work up. Other tests were also used to reach the final diagnosis. The utility of the bone scan to detect underlying pathology was assessed. On the whole, 75 patients were found to have pathology while only 52 children had a positive bone scan. We also looked for associated findings that could indicate the presence of pathology. The age of the patients, the duration of symptoms, and the presence of night pain seemed to be irrelevant on predicting underlying pathology. The sensitivity of the bone scan was low, 0.613 (95% CI: 0.549-0.654), although it proved to be highly specific, 0.91 (95% CI: 0.83-0.95). A careful analysis of the data and the different diagnosis suggests that Technetium bone scan still holds a place in the study of these patients; however, there is a big concern by the fact that some primary malignancies went undetected on the scan.
2006
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2006
Adolescent
Back Pain/etiology/radionuclide imaging
Backlog
Beguiristain-Gurpide JL
Bone and Bones/radionuclide imaging
Bone Neoplasms/complications/epidemiology/radionuclide imaging
Child
Female
Humans
Infant
Journal Article
Journal of Pediatric Orthopaedics
Magnetic Resonance Imaging
Male
PedPal Lit
Preschool
Radiopharmaceuticals/diagnostic use
Retrospective Studies
Sanpera I
Spondylolysis/complications/epidemiology/radionuclide imaging
Technetium/diagnostic use
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ajmg.c.20007" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.c.20007</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Type I glutaric aciduria, part 1: natural history of 77 patients
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part C, Seminars In Medical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Humans; Magnetic Resonance Imaging; Necrosis; Q3 Literature Search; Brain Diseases; Chromosomes; Human; Mutation/genetics; Dystonia/complications; Glutarates/urine; Glutaryl-CoA Dehydrogenase; Inborn/complications/diet therapy/drug therapy/genetics; Lysine/metabolism; Metabolic; Oxidoreductases Acting on CH-CH Group Donors/deficiency/genetics/metabolism; Pair 19/genetics; Putamen/blood supply/pathology; Tryptophan/metabolism
Creator
An entity primarily responsible for making the resource
Strauss KA; Puffenberger EG; Robinson DL; Morton DH
Description
An account of the resource
Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14-year clinical experience. Microencephalic macrocephaly at birth is the earliest sign of GA1 and is associated with stretched bridging veins that can be a cause of subdural hematoma and acute retinal hemorrhage. Acute striatal necrosis during infancy is the principal cause of morbidity and mortality and leads to chronic oromotor, gastroesophageal, skeletal, and respiratory complications of dystonia. Injury to the putamen is heralded by abrupt-onset behavioral arrest. Tissue degeneration is stroke-like in pace, radiologic appearance, and irreversibility. It is uniformly symmetric, regionally selective, confined to children under 18 months of age, and occurs almost always during an infectious illness. Our knowledge of disease mechanisms, though incomplete, is sufficient to allow a rational approach to management of encephalopathic crises. Screening of asymptomatic newborns with GA1 followed by thoughtful prospective care reduces the incidence of radiologically and clinically evident basal ganglia injury from approximately 90% to 35%. Uninjured children have good developmental outcomes and thrive within Amish and non-Amish communities.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.c.20007" target="_blank" rel="noreferrer">10.1002/ajmg.c.20007</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
American Journal Of Medical Genetics.Part C, Seminars In Medical Genetics
Backlog
Brain Diseases
Chromosomes
Dystonia/complications
Glutarates/urine
Glutaryl-CoA Dehydrogenase
Human
Humans
Inborn/complications/diet therapy/drug therapy/genetics
Journal Article
Lysine/metabolism
Magnetic Resonance Imaging
Metabolic
Morton DH
Mutation/genetics
Necrosis
Oxidoreductases Acting on CH-CH Group Donors/deficiency/genetics/metabolism
Pair 19/genetics
Puffenberger EG
Putamen/blood supply/pathology
Q3 Scoping Review Results
Robinson DL
Strauss KA
Tryptophan/metabolism
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ana.10631" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.10631</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes
Publisher
An entity responsible for making the resource available
Annals Of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Treatment Outcome; Longitudinal Studies; Magnetic Resonance Imaging; Preschool; infant; Q3 Literature Search; Newborn; Age of Onset; Pedigree; Aromatic-L-Amino-Acid Decarboxylases/cerebrospinal fluid/deficiency/genetics; Autonomic Nervous System Diseases/genetics/physiopathology; Consanguinity; Hemodynamics/physiology; Movement Disorders/genetics/physiopathology; Nervous System Diseases/cerebrospinal fluid/genetics/physiopathology; Nitroprusside/diagnostic use; Vasodilator Agents/diagnostic use
Creator
An entity primarily responsible for making the resource
Swoboda KJ; Saul JP; McKenna CE; Speller NB; Hyland K
Description
An account of the resource
In this paper, we provide a brief update of diagnostic considerations and biochemical phenotype in L-amino acid decarboxylase deficiency. We review clinical features and outcome data in 11 affected patients, including 7 previously unreported cases. All had onset of the characteristic movement disorder by 6 months of age. The phenomenology of the movement disorder is identical to that previously reported, and includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement in all patients. Autonomic dysfunction is characterized by a significant impairment of sympathetic regulation of heart rate and blood pressure, as documented via detailed studies with spectral analysis techniques in two patients. Functional clinical outcomes as a group remain poor, in spite of a variety of attempted treatment interventions, with marked impairment in motor abilities as well as in speech and communication; however, outcome was quite variable from patient to patient and covered a broad spectrum of neurological disability. Much further work remains to identify and refine the best treatment options for patients with L-amino acid decarboxylase deficiency.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ana.10631" target="_blank" rel="noreferrer">10.1002/ana.10631</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
Age of Onset
Annals Of Neurology
Aromatic-L-Amino-Acid Decarboxylases/cerebrospinal fluid/deficiency/genetics
Autonomic Nervous System Diseases/genetics/physiopathology
Backlog
Child
Consanguinity
Female
Hemodynamics/physiology
Humans
Hyland K
Infant
Journal Article
Longitudinal Studies
Magnetic Resonance Imaging
Male
McKenna CE
Movement Disorders/genetics/physiopathology
Nervous System Diseases/cerebrospinal fluid/genetics/physiopathology
Newborn
Nitroprusside/diagnostic use
Pedigree
Preschool
Q3 Scoping Review Results
Saul JP
Speller NB
Swoboda KJ
Treatment Outcome
Vasodilator Agents/diagnostic use
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1007/bf02828121" target="_blank" rel="noreferrer">http://doi.org/10.1007/bf02828121</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Leigh's syndrome
Publisher
An entity responsible for making the resource available
Indian Journal Of Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
2004
Subject
The topic of the resource
Female; Humans; Disease Progression; Autopsy; Severity of Illness Index; Risk Assessment; Biopsy; Magnetic Resonance Imaging; Fatal Outcome; infant; Q3 Literature Search; Needle; Basal Ganglia/pathology; Immunohistochemistry; Leigh Disease/diagnosis/physiopathology/therapy
Creator
An entity primarily responsible for making the resource
Mannan AA; Sharma MC; Shrivastava P; Ralte AM; Gupta V; Behari M; Sarkar C
Description
An account of the resource
A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of milestones since 12 months of age. CT scan of the brain revealed hypodense lesions in bilateral basal ganglia and on MRI there were T2 hyperintensities in bilateral lentiform nuclei, caudate nuclei, thalamus, red nuclei and dentate nuclei. Biochemical examination revealed persistently elevated serum lactate levels with high lactate/pyruvate ratio. Resuscitative measures were of no avail and the child succumbed to the illness on the second day of admission. Neuropathological examination at autopsy demonstrated marked spongiosis, focal necrosis, endothelial proliferation, reactive astrogliosis and extensive demyelination involving bilateral basal ganglia, midbrain and spinal cord which were typical of Leigh's sub acute necrotizing encephalomyelopathy.
2004
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/bf02828121" target="_blank" rel="noreferrer">10.1007/bf02828121</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2004
Autopsy
Backlog
Basal Ganglia/pathology
Behari M
Biopsy
Disease Progression
Fatal Outcome
Female
Gupta V
Humans
Immunohistochemistry
Indian Journal Of Pediatrics
Infant
Journal Article
Leigh Disease/diagnosis/physiopathology/therapy
Magnetic Resonance Imaging
Mannan AA
Needle
Q3 Scoping Review Results
Ralte AM
Risk Assessment
Sarkar C
Severity Of Illness Index
Sharma MC
Shrivastava P
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/S0387-7604(03)00113-X" target="_blank" rel="noreferrer">http://doi.org/10.1016/S0387-7604(03)00113-X</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria
Publisher
An entity responsible for making the resource available
Brain & Development
Date
A point or period of time associated with an event in the lifecycle of the resource
2004
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Follow-Up Studies; Magnetic Resonance Imaging; adolescent; Preschool; infant; Q3 Literature Search; Tomography; X-Ray Computed; Electroencephalography; Epilepsy/pathology; Brain/abnormalities/pathology; Frontal Lobe/pathology; Gait Disorders; Neurologic/complications/pathology; Temporal Lobe/pathology
Creator
An entity primarily responsible for making the resource
Caraballo RH; Cersosimo RO; Fejerman N
Description
An account of the resource
We compared the electroclinical features and evolution of patients with two different types of abnormal cortical organization: unilateral closed-lip schizencephaly (SCHZ) and unilateral polymicrogyria (PMG). Between February 1990 and June 2002, 51 children with either unilateral PMG or closed-lip SCHZ were selected through neuroradiological analysis for investigation at our service. We evaluated the frequency of epilepsy, electroclinical features and evolution. The mean time of follow-up was 7 years (range 1-12 years). All patients underwent neurological examination, computed tomography scan and magnetic resonance imaging, serial electroencephalographic (EEG) recordings and neuropsychological assessment. Thirty-six of the 51 patients had unilateral PMG. All patients had hemiparesis with mild spasticity. Mental retardation was mild in 20 and moderate in 14. In two patients IQ was normal. Partial motor seizures were recorded in 28 patients, with secondary generalization in 20. The median age at onset of seizures was 2 years (range 4 months-7 years). Interictal EEGs showed unilateral spikes in all patients. In 21 patients epilepsy worsened between the ages of 4 and 8 (mean 5.6 years) with frequent atonic seizures, atypical absences, epileptic negative myoclonus and gait difficulties. EEGs showed continuous spike-wave activity or bilateral high-frequency spike discharges during slow-wave sleep. Frequent relapses of atonic and myoclonic seizures were seen in nine patients. At present, 16 patients are seizure-free. Fifteen patients with unilateral SCHZ were included in the study. Focal motor seizures were registered in seven cases, in three of them with secondary generalization. The median age at onset of epilepsy was 2.5 years (range 1-4 years). Interictal EEGs showed unilateral spikes in these seven cases. All patients except one presented mild spastic hemiparesis. Mental retardation was mild in ten children, moderate in two and IQ was normal in three. Although the underlying mechanisms leading to PMG and SCHZ are probably similar, the electroclinical phenomenon of secondary bilateral synchrony with frequent negative myoclonus was not present in our cases with unilateral closed-lip SCHZ.
2004
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/S0387-7604(03)00113-X" target="_blank" rel="noreferrer">10.1016/S0387-7604(03)00113-X</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2004
Adolescent
Adult
Backlog
Brain & Development
Brain/abnormalities/pathology
Caraballo RH
Cersosimo RO
Child
Electroencephalography
Epilepsy/pathology
Fejerman N
Female
Follow-up Studies
Frontal Lobe/pathology
Gait Disorders
Humans
Infant
Journal Article
Magnetic Resonance Imaging
Male
Neurologic/complications/pathology
Preschool
Q3 Scoping Review Results
Temporal Lobe/pathology
Tomography
X-Ray Computed
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1111/j.1469-8749.2002.tb00776.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1469-8749.2002.tb00776.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Infantile neuroaxonal dystrophy (Seitelberger's disease)
Publisher
An entity responsible for making the resource available
Developmental Medicine And Child Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2002
Subject
The topic of the resource
Humans; Magnetic Resonance Imaging; Diagnosis; Differential; Electroencephalography; Auditory; Brain Stem/physiology; Brain/pathology/physiopathology; Evoked Potentials; Disease Specific; Neuroaxonal Dystrophies/complications/diagnosis; Pantothenate Kinase-Associated Neurodegeneration/diagnosis; Seizures/diagnosis/etiology; Visual/physiology
Creator
An entity primarily responsible for making the resource
Gordon N
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1469-8749.2002.tb00776.x" target="_blank" rel="noreferrer">10.1111/j.1469-8749.2002.tb00776.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
2002
2002
Auditory
Backlog
Brain Stem/physiology
Brain/pathology/physiopathology
Developmental Medicine and Child Neurology
Diagnosis
Differential
Disease Specific
Electroencephalography
Evoked Potentials
Gordon N
Humans
Journal Article
Magnetic Resonance Imaging
Neuroaxonal Dystrophies/complications/diagnosis
Pantothenate Kinase-Associated Neurodegeneration/diagnosis
Seizures/diagnosis/etiology
Visual/physiology
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1111/j.1469-8749.2004.tb00983.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1469-8749.2004.tb00983.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Joubert syndrome: long-term follow-up
Publisher
An entity responsible for making the resource available
Developmental Medicine And Child Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2004
Subject
The topic of the resource
Child; Female; Humans; Male; Prognosis; Follow-Up Studies; Magnetic Resonance Imaging; Tomography; X-Ray Computed; Evoked Potentials; Disease Specific; Achilles Tendon/pathology/physiopathology; Cerebellar Ataxia/physiopathology/radiography; Cerebellum/abnormalities/radiography; Developmental Disabilities/physiopathology/radiography; Eye Movements; Pigment Epithelium of Eye/pathology/physiopathology; Visual
Creator
An entity primarily responsible for making the resource
Hodgkins PR; Harris CM; Shawkat FS; Thompson DA; Chong K; Timms C; Russell-Eggitt I; Taylor DS; Kriss A
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1469-8749.2004.tb00983.x" target="_blank" rel="noreferrer">10.1111/j.1469-8749.2004.tb00983.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
2004
2004
Achilles Tendon/pathology/physiopathology
Backlog
Cerebellar Ataxia/physiopathology/radiography
Cerebellum/abnormalities/radiography
Child
Chong K
Developmental Disabilities/physiopathology/radiography
Developmental Medicine and Child Neurology
Disease Specific
Evoked Potentials
Eye Movements
Female
Follow-up Studies
Harris CM
Hodgkins PR
Humans
Journal Article
Kriss A
Magnetic Resonance Imaging
Male
Pigment Epithelium of Eye/pathology/physiopathology
Prognosis
Russell-Eggitt I
Shawkat FS
Taylor DS
Thompson DA
Timms C
Tomography
Visual
X-Ray Computed
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1136/jnnp.74.4.495" target="_blank" rel="noreferrer">http://doi.org/10.1136/jnnp.74.4.495</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Beta endorphin concentrations in PBMC of patients with different clinical phenotypes of multiple sclerosis
Publisher
An entity responsible for making the resource available
Journal Of Neurology, Neurosurgery, And Psychiatry
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Female; Humans; Male; Adult; Middle Aged; Magnetic Resonance Imaging; Phenotype; Biomarkers of Pain; Brain/pathology; Leukocytes; Mononuclear/chemistry; beta-Endorphin/blood/genetics; Multiple Sclerosis/blood/genetics/pathology
Creator
An entity primarily responsible for making the resource
Gironi M; Furlan R; Rovaris M; Comi G; Filippi M; Panerai AE; Sacerdote P
Description
An account of the resource
The possible link between the opioid peptide beta endorphin and the heterogeneity of the clinical course of multiple sclerosis (MS) was investigated. Peripheral blood mononuclear cells (PBMC) concentrations of beta endorphin were measured in 50 patients in different phases of MS. Thirty nine patients also underwent post-contrast magnetic resonance imaging of the brain. Among MS forms, the highest beta endorphin concentrations were found in PBMC from patients with relapsing remitting MS and the lowest in patients with the progressive forms. Average beta endorphin concentrations were lower, although not significantly, in patients with than in those without magnetic resonance imaging enhanced lesions. These data suggest that beta endorphin may have a role in the downregulation of the inflammatory process.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1136/jnnp.74.4.495" target="_blank" rel="noreferrer">10.1136/jnnp.74.4.495</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
Adult
Backlog
beta-Endorphin/blood/genetics
Biomarkers of Pain
Brain/pathology
Comi G
Female
Filippi M
Furlan R
Gironi M
Humans
Journal Article
Journal Of Neurology, Neurosurgery, And Psychiatry
Leukocytes
Magnetic Resonance Imaging
Male
Middle Aged
Mononuclear/chemistry
Multiple Sclerosis/blood/genetics/pathology
Panerai AE
Phenotype
Rovaris M
Sacerdote P
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1212/wnl.59.4.490" target="_blank" rel="noreferrer">http://doi.org/10.1212/wnl.59.4.490</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Practice parameter: evaluation of children and adolescents with recurrent headaches: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Publisher
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Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2002
Subject
The topic of the resource
Child; Female; Humans; Male; Risk Factors; Magnetic Resonance Imaging; Predictive Value of Tests; adolescent; Preschool; Tomography; X-Ray Computed; Electroencephalography; Recurrence; Spinal Puncture; Headache/diagnosis/etiology; Migraine Disorders/diagnosis; Neurologic Examination/standards
Creator
An entity primarily responsible for making the resource
Lewis DW; Ashwal S; Dahl G; Dorbad D; Hirtz D; Prensky A; Jarjour I; Quality Standards Subcommittee of the American Academy of Neurology ; Practice Committee of the Child Neurology Society
Description
An account of the resource
OBJECTIVE: The Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society develop practice parameters as strategies for patient management based on analysis of evidence. For this parameter, the authors reviewed available evidence on the evaluation of the child with recurrent headaches and made recommendations based on this evidence. METHODS: Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a four-tiered scheme of evidence classification. RESULTS: There is inadequate documentation in the literature to support any recommendation as to the appropriateness of routine laboratory studies or performance of lumbar puncture. EEG is not recommended in the routine evaluation, as it is unlikely to define or determine an etiology or distinguish migraine from other types of headaches. In those children undergoing evaluation for recurrent headache found to have a paroxysmal EEG, the risk for future seizures is negligible; therefore, further investigation for epilepsy or treatments aimed at preventing future seizures is not indicated. Obtaining a neuroimaging study on a routine basis is not indicated in children with recurrent headaches and a normal neurologic examination. Neuroimaging should be considered in children with an abnormal neurologic examination or other physical findings that suggest CNS disease. Variables that predicted the presence of a space-occupying lesion included 1) headache of less than 1-month duration; 2) absence of family history of migraine; 3) abnormal neurologic findings on examination; 4) gait abnormalities; and 5) occurrence of seizures. CONCLUSIONS: Recurrent headaches occur commonly in children and are diagnosed on a clinical basis rather than by any testing. The routine use of any diagnostic studies is not indicated when the clinical history has no associated risk factors and the child's examination is normal.
2002
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/wnl.59.4.490" target="_blank" rel="noreferrer">10.1212/wnl.59.4.490</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2002
Adolescent
Ashwal S
Backlog
Child
Dahl G
Dorbad D
Electroencephalography
Female
Headache/diagnosis/etiology
Hirtz D
Humans
Jarjour I
Journal Article
Lewis DW
Magnetic Resonance Imaging
Male
Migraine Disorders/diagnosis
Neurologic Examination/standards
Neurology
Practice Committee of the Child Neurology Society
Predictive Value of Tests
Prensky A
Preschool
Quality Standards Subcommittee of the American Academy of Neurology
Recurrence
Risk Factors
Spinal Puncture
Tomography
X-Ray Computed
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1212/wnl.59.7.1058" target="_blank" rel="noreferrer">http://doi.org/10.1212/wnl.59.7.1058</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain
Publisher
An entity responsible for making the resource available
Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2002
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Prospective Studies; Magnetic Resonance Imaging; Linear Models; Chi-Square Distribution; Forecasting; adolescent; Preschool; infant; Q3 Literature Search; Nonparametric; Statistics; Tomography; Brain/pathology; X-Ray Computed; Face/pathology; Holoprosencephaly/pathology/physiopathology; Seizures/pathology/physiopathology
Creator
An entity primarily responsible for making the resource
Plawner LL; Delgado MR; Miller VS; Levey EB; Kinsman SL; Barkovich AJ; Simon EM; Clegg NJ; Sweet VT; Stashinko EE; Hahn JS
Description
An account of the resource
BACKGROUND: Despite advances in neuroimaging and molecular genetics of holoprosencephaly (HPE), the clinical spectrum of HPE has remained inadequately described. OBJECTIVE: To better characterize the clinical features of HPE and identify specific neuroanatomic abnormalities that may be useful predictors of neurodevelopmental function. METHODS: The authors evaluated 68 children with HPE in a multicenter, prospective study. Neuroimaging studies were assessed for the grade of HPE (lobar, semilobar, and alobar), the degree of nonseparation of the deep gray nuclei, and presence of dorsal cyst or cortical malformation. RESULTS: In general, the severity of clinical problems and neurologic dysfunctions correlated with the degree of hemispheric nonseparation (grade of HPE). Nearly three-quarters of the patients had endocrinopathies, with all having at least diabetes insipidus. The severity of endocrine abnormalities correlated with the degree of hypothalamic nonseparation (p = 0.029). Seizures occurred in approximately half of the children with HPE. The presence of cortical malformations was associated with difficult-to-control seizures. The presence and degree of dystonia correlated with the degree of nonseparation of the caudate and lentiform nuclei and the grade of HPE (p < 0.05). Hypotonia correlated with the grade of HPE (p < 0.05). Mobility, upper extremity function, and language correlated with the degree of nonseparation of the caudate, lentiform and thalamic nuclei, and grade of HPE (p < 0.01). CONCLUSIONS: Patients with HPE manifest a wide spectrum of clinical problems and neurologic dysfunction. The nature and severity of many of these problems can be predicted by specific neuroanatomic abnormalities found in HPE.
2002
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/wnl.59.7.1058" target="_blank" rel="noreferrer">10.1212/wnl.59.7.1058</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2002
Adolescent
Adult
Backlog
Barkovich AJ
Brain/pathology
Chi-Square Distribution
Child
Clegg NJ
Delgado MR
Face/pathology
Female
Forecasting
Hahn JS
Holoprosencephaly/pathology/physiopathology
Humans
Infant
Journal Article
Kinsman SL
Levey EB
Linear Models
Magnetic Resonance Imaging
Male
Miller VS
Neurology
Nonparametric
Plawner LL
Preschool
Prospective Studies
Q3 Scoping Review Results
Seizures/pathology/physiopathology
Simon EM
Stashinko EE
Statistics
Sweet VT
Tomography
X-Ray Computed
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ajmg.1320570205" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.1320570205</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients.
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
1995
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Follow-Up Studies; Longitudinal Studies; Magnetic Resonance Imaging; Time Factors; adolescent; Preschool; infant; Tomography; Age of Onset; Atrophy; Brain/pathology/radiography; Cerebellum/pathology; Neuronal Ceroid-Lipofuscinoses/diagnosis/physiopathology; X-Ray Computed
Creator
An entity primarily responsible for making the resource
Nardocci N; Verga ML; Binelli S; Zorzi G; Angelini L; Bugiani O
Description
An account of the resource
We report on clinical, electrophysiological, neuroradiological, and morphological data from 19 patients with different types (late infantile, juvenile, and adult) of neuronal ceroid-lipofuscinosis (NCL), observed in the last 10 years at the Neurological Institute of Milan. Late Infantile NCL (LINCL) (8 patients, 4m/4f). Age at onset: 2-4 1/2 years. Seizures (6 patients) or decline of mental capacities (2 patients) were the presenting symptoms, followed by myoclonus and ataxia; visual loss and optic atrophy occurred in 6 patients within 3 years. All but 2 children became bedridden within 3 1/2 years. CT and MRI demonstrated different degrees of cerebral and cerebellar atrophy within 3 years from onset of the disease. Ultrastructural studies showed fingerprint profiles (FP) and osmiophilic bodies (OB) in circulating lymphocytes; curvilinear bodies (CB) and FP were detected in eccrine secretory cells. Juvenile NCL (JNCL) (7 patients, 4m/3f). Age at onset: 6-9 years. Visual loss with retinal degeneration was the presenting symptoms, accompanied in all but 2 patients by slight mental impairment. Seizures occurred within 2-4 years. CT and MRI detected cerebral or cerebellar atrophy in those patients (5 patients) with a clinical follow-up longer than 4 years. Electron microscopy showed FP on circulating lymphocytes, and both FP and CB on skin biopsy specimens. Adult NCL (ANCL) (4 patients, 3 m/1f). Age at onset: 12-50 years. Progressive myoclonus epilepsy (1 patient) or dementia with motor disturbances (3 patients) were the clinical phenotypes of the disease. MRI demonstrated cerebral and cerebellar atrophy within 6 years from onset. Electron microscopy disclosed FP in cytoplasmic vacuoles inside eccrine secretory cells.
1995
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.1320570205" target="_blank" rel="noreferrer">10.1002/ajmg.1320570205</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1995
Adolescent
Adult
Age of Onset
American Journal Of Medical Genetics
Angelini L
Atrophy
Backlog
Binelli S
Brain/pathology/radiography
Bugiani O
Cerebellum/pathology
Child
Female
Follow-up Studies
Humans
Infant
Journal Article
Longitudinal Studies
Magnetic Resonance Imaging
Male
Nardocci N
Neuronal Ceroid-Lipofuscinoses/diagnosis/physiopathology
Preschool
Time Factors
Tomography
Verga ML
X-Ray Computed
Zorzi G
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1007/bf00598955" target="_blank" rel="noreferrer">http://doi.org/10.1007/bf00598955</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Tay-Sachs disease: Progression of changes on neuroimaging in four cases.
Publisher
An entity responsible for making the resource available
Neuroradiology
Date
A point or period of time associated with an event in the lifecycle of the resource
1992
Subject
The topic of the resource
Child; Humans; Male; Follow-Up Studies; Longitudinal Studies; Magnetic Resonance Imaging; Preschool; infant; Brain Diseases; Emission-Computed; Tomography; Brain/pathology; Atrophy; X-Ray Computed; Demyelinating Diseases/diagnosis/pathology; Metabolic/diagnosis/pathology; Tay-Sachs Disease/diagnosis/pathology
Creator
An entity primarily responsible for making the resource
Fukumizu M; Yoshikawa H; Takashima S; Sakuragawa N; Kurokawa T
Description
An account of the resource
The neuroradiological findings in four patients with Tay-Sachs disease are described in three phases of the clinical course. The basal ganglia and cerebral white matter show low density on computed tomography and high signal intensity on T2-weighted magnetic resonance imaging in the initial phase. The caudate nuclei are characteristically enlarged and protrude into the lateral ventricles in the first and second phases. The cerebral white matter shows low density on the CT which varies in extent from the second to third phases, and the whole brain becomes atrophic in the last phase. Thus, central nervous system involvement in the disease may begin in basal ganglia as well as in cerebral white matter.
1992
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/bf00598955" target="_blank" rel="noreferrer">10.1007/bf00598955</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1992
Atrophy
Backlog
Brain Diseases
Brain/pathology
Child
Demyelinating Diseases/diagnosis/pathology
Emission-Computed
Follow-up Studies
Fukumizu M
Humans
Infant
Journal Article
Kurokawa T
Longitudinal Studies
Magnetic Resonance Imaging
Male
Metabolic/diagnosis/pathology
Neuroradiology
Preschool
Sakuragawa N
Takashima S
Tay-Sachs Disease/diagnosis/pathology
Tomography
X-Ray Computed
Yoshikawa H
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/0887-8994(94)90028-0" target="_blank" rel="noreferrer">http://doi.org/10.1016/0887-8994(94)90028-0</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Magnetic resonance spectroscopy in Niemann-Pick disease type C: Correlation with diagnosis and clinical response to cholestyramine and lovastatin.
Publisher
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Pediatric Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
1994
Subject
The topic of the resource
Chromosome Disorders; Humans; Male; Follow-Up Studies; Longitudinal Studies; Magnetic Resonance Imaging; Combined Modality Therapy; infant; Lipid Metabolism; Neuropsychological Tests; Brain/drug effects/metabolism/pathology; Cholesterol; Cholestyramine/administration & dosage/adverse effects; Chromosome Aberrations/genetics; Dietary/administration & dosage; Genes; Lovastatin/administration & dosage/adverse effects; Magnetic Resonance Spectroscopy; Niemann-Pick Diseases/diagnosis/drug therapy/genetics; Recessive/genetics
Creator
An entity primarily responsible for making the resource
Sylvain M; Arnold DL; Scriver CR; Schreiber R; Shevell MI
Description
An account of the resource
Niemann-Pick type C is an autosomal-recessive, neurovisceral storage disorder that results from defective cholesterol esterification. Cholesterol-lowering agents have been demonstrated to decrease hepatic lipids in Niemann-Pick type C patients. The objective was to determine the effects of cholesterol-lowering agents on neurologic features and to develop a noninvasive method of monitoring clinical response. A 9-month-old boy with progressive hepatosplenomegaly and neurodevelopmental delay was studied. Water-suppressed proton magnetic resonance spectra from a supraventricular volume of central white and gray matter revealed an abnormal lipid signal. The patient was treated with cholesterol-lowering agents (i.e., cholestyramine, lovastatin). Repeat standardized neurodevelopmental assessments (Peabody and Griffith scales) at 13 and 19 months were normal and magnetic resonance spectra no longer detected the previously observed lipid resonance. Early treatment of Niemann-Pick type C patients with cholesterol-lowering agents appeared to have short-term beneficial effects. Magnetic resonance spectra provided a noninvasive means of monitoring CNS response.
1994
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/0887-8994(94)90028-0" target="_blank" rel="noreferrer">10.1016/0887-8994(94)90028-0</a>
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Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1994
Arnold DL
Backlog
Brain/drug effects/metabolism/pathology
Cholesterol
Cholestyramine/administration & dosage/adverse effects
Chromosome Aberrations/genetics
Chromosome Disorders
Combined Modality Therapy
Dietary/administration & dosage
Follow-up Studies
Genes
Humans
Infant
Journal Article
Lipid Metabolism
Longitudinal Studies
Lovastatin/administration & dosage/adverse effects
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male
Neuropsychological Tests
Niemann-Pick Diseases/diagnosis/drug therapy/genetics
Pediatric Neurology
Recessive/genetics
Schreiber R
Scriver CR
Shevell MI
Sylvain M
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/s0387-7604(96)00558-x" target="_blank" rel="noreferrer">http://doi.org/10.1016/s0387-7604(96)00558-x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological study
Publisher
An entity responsible for making the resource available
Brain & Development
Date
A point or period of time associated with an event in the lifecycle of the resource
1997
Subject
The topic of the resource
Child; Female; Humans; Magnetic Resonance Imaging; Preschool; Q3 Literature Search; Emission-Computed; Tomography; Evoked Potentials; Epilepsies; Recurrence; Pain/diagnosis/drug therapy/etiology; Single-Photon; Somatosensory/physiology; Cytochrome c Group/pharmacology; Flavin Mononucleotide/pharmacology; MERRF Syndrome/complications/diagnosis/physiopathology; Myoclonic/complications/physiopathology/radionuclide imaging; Thalamus/blood supply; Thiamine/pharmacology
Creator
An entity primarily responsible for making the resource
Tanaka S; Osari S; Ozawa M; Yamanouchi H; Goto Y; Matsuda H; Nonaka I
Description
An account of the resource
We reported a 3-year-old girl with myoclonus epilepsy associated with ragged-red fibers (MERRF) who was afflicted with recurrent pain attacks and allodynia on the right side of the body. Although magnetic resonance imaging showed normal intensity in the thalamus, single-photon emission computed tomography (SPECT) revealed hypoperfusion in the thalamus. Somatosensory evoked potentials showed delayed early cortical responses, particularly on right median nerve stimulation. The parenteral administration of cytochrome c with flavin mononucleotide and thiamine diphosphate abolished the intolerable pain. This clinical improvement was objectively supported by the results of SPECT and neurophysiological findings. These observations suggested that a dysfunction of the thalamus was responsible for her pain and that cytochrome c therapy was of benefit for this symptom.
1997
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/s0387-7604(96)00558-x" target="_blank" rel="noreferrer">10.1016/s0387-7604(96)00558-x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1997
Backlog
Brain & Development
Child
Cytochrome c Group/pharmacology
Emission-Computed
Epilepsies
Evoked Potentials
Female
Flavin Mononucleotide/pharmacology
Goto Y
Humans
Journal Article
Magnetic Resonance Imaging
Matsuda H
MERRF Syndrome/complications/diagnosis/physiopathology
Myoclonic/complications/physiopathology/radionuclide imaging
Nonaka I
Osari S
Ozawa M
Pain/diagnosis/drug therapy/etiology
Preschool
Q3 Scoping Review Results
Recurrence
Single-Photon
Somatosensory/physiology
Tanaka S
Thalamus/blood supply
Thiamine/pharmacology
Tomography
Yamanouchi H
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/s0887-8994(00)00232-0" target="_blank" rel="noreferrer">http://doi.org/10.1016/s0887-8994(00)00232-0</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Update on genetic disorders affecting white matter
Publisher
An entity responsible for making the resource available
Pediatric Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2001
Subject
The topic of the resource
Child; Humans; Magnetic Resonance Imaging; Brain/pathology; Diagnosis; Differential; Brain Diseases/diagnosis/genetics/metabolism/pathology; Hereditary Central Nervous System Demyelinating Diseases/diagnosis/genetics/pathology
Creator
An entity primarily responsible for making the resource
Kaye EM
Description
An account of the resource
The classification of diseases affecting white matter has changed dramatically with the use of magnetic resonance imaging. Classical leukodystrophies, such as metachromatic leukodystrophy and Krabbe's disease, account for only a small number of inherited diseases that affect white matter. Magnetic resonance imaging has clarified genetic disorders that result in white matter changes or leukoencephalopathies. The term leukoencephalopathy is used to reflect the broader number of diseases that may cause as either primary or secondary changes in myelin development. This review attempts to categorize white matter disorders into classes such as lipid, myelin protein, organic acids, and defects in energy metabolism, in addition to other causes.
2001
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/s0887-8994(00)00232-0" target="_blank" rel="noreferrer">10.1016/s0887-8994(00)00232-0</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2001
Backlog
Brain Diseases/diagnosis/genetics/metabolism/pathology
Brain/pathology
Child
Diagnosis
Differential
Hereditary Central Nervous System Demyelinating Diseases/diagnosis/genetics/pathology
Humans
Journal Article
Kaye EM
Magnetic Resonance Imaging
Pediatric Neurology
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1055/s-2007-973503" target="_blank" rel="noreferrer">http://doi.org/10.1055/s-2007-973503</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)
Publisher
An entity responsible for making the resource available
Neuropediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
1999
Subject
The topic of the resource
Child; Female; Humans; Male; Disease Progression; Magnetic Resonance Imaging; Preschool; infant; Q3 Literature Search; Atrophy; Brain/abnormalities/pathology; Mental Retardation/etiology; Mucopolysaccharidosis III/pathology/physiopathology; Psychomotor Disorders/diagnosis/etiology
Creator
An entity primarily responsible for making the resource
Barone R; Nigro F; Triulzi F; Musumeci S; Fiumara A; Pavone L
Description
An account of the resource
Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain magnetic resonance imaging (MRI). Our results suggest that in MPS III patients MRI findings, including atrophy and abnormal or delayed myelination, may precede the onset of overt neurological symptoms. The increasing neurological morbidity is accompanied by different degrees of progressive atrophic changes, mainly affecting the cerebral cortex and the corpus callosum. However, it appears that, across subjects, the rate of MRI changes is unrelated to the severity of the clinical phenotype. On this basis it could be argued that in MPS III the worsening of the neurological symptoms might not necessarily reflect only the progressive cerebral abnormalities detectable by MRI.
1999
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1055/s-2007-973503" target="_blank" rel="noreferrer">10.1055/s-2007-973503</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1999
Atrophy
Backlog
Barone R
Brain/abnormalities/pathology
Child
Disease Progression
Female
Fiumara A
Humans
Infant
Journal Article
Magnetic Resonance Imaging
Male
Mental Retardation/etiology
Mucopolysaccharidosis III/pathology/physiopathology
Musumeci S
Neuropediatrics
Nigro F
Pavone L
Preschool
Psychomotor Disorders/diagnosis/etiology
Q3 Scoping Review Results
Triulzi F
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1055/s-2008-1071515" target="_blank" rel="noreferrer">http://doi.org/10.1055/s-2008-1071515</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Disorders of movement in Leigh syndrome
Publisher
An entity responsible for making the resource available
Neuropediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
1993
Subject
The topic of the resource
Child; Female; Humans; Male; Magnetic Resonance Imaging; Preschool; Q3 Literature Search; retrospective studies; Basal Ganglia Diseases/complications/enzymology/physiopathology; Basal Ganglia/enzymology/physiopathology; Brain/enzymology/physiopathology/radiography; Dystonia/complications/diagnosis/physiopathology; Electron Transport Complex IV/metabolism; Enzyme Repression; Leigh Disease/complications/diagnosis/physiopathology; Mental Disorders/etiology; Mitochondrial Encephalomyopathies/complications/enzymology; Movement Disorders/complications/diagnosis/physiopathology
Creator
An entity primarily responsible for making the resource
Macaya A; Munell F; Burke RE; De Vivo DC
Description
An account of the resource
Leigh syndrome (LS) is the clinical prototype of a genetically-determined mitochondrial encephalopathy. Twenty-two of 34 patients with LS had evidence of a movement disorder (MD). Dystonia, the most common MD, was present in 19 cases, rigidity in 4, tremor in 2, chorea in 2, hypokinesia in 2, myoclonus in 1, and tics in 1. Dystonia was most commonly multifocal at onset and showed progression in six patients. In half of the cases an enzymatic defect was detected, most commonly cytochrome C oxidase. The neuroradiologic findings showed prominent basal ganglia lesions in 20/21 patients. Putamen, caudate, substantia nigra and globus pallidus were involved in this order of frequency. This experience was reflected in a literature review encompassing 284 cases of LS. However, only 26.4% had MD. Eleven patients, including one of our cases, presented as the primary torsion dystonia phenotype. There are clinical and pathological similarities between LS and other metabolic diseases affecting the central nervous system. The enhanced vulnerability of the nervous system to metabolic stress and the resemblance in the distribution of the pathology of these diverse conditions suggests a common pathogenetic mechanism. An excitotoxin-mediated mechanism is favored, one which might account for the frequent involvement of the basal ganglia in LS.
1993
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1055/s-2008-1071515" target="_blank" rel="noreferrer">10.1055/s-2008-1071515</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
1993
Backlog
Basal Ganglia Diseases/complications/enzymology/physiopathology
Basal Ganglia/enzymology/physiopathology
Brain/enzymology/physiopathology/radiography
Burke RE
Child
De Vivo DC
Dystonia/complications/diagnosis/physiopathology
Electron Transport Complex IV/metabolism
Enzyme Repression
Female
Humans
Journal Article
Leigh Disease/complications/diagnosis/physiopathology
Macaya A
Magnetic Resonance Imaging
Male
Mental Disorders/etiology
Mitochondrial Encephalomyopathies/complications/enzymology
Movement Disorders/complications/diagnosis/physiopathology
Munell F
Neuropediatrics
Preschool
Q3 Scoping Review Results
Retrospective Studies
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.2310/7010.2001.7199" target="_blank" rel="noreferrer">http://doi.org/10.2310/7010.2001.7199</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Neurologic course of congenital disorders of glycosylation
Publisher
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Journal Of Child Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2001
Subject
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Child; Female; Humans; Male; Magnetic Resonance Imaging; Preschool; infant; Q3 Literature Search; Brain Diseases; Metabolic; Epilepsy/diagnosis; Brain/pathology/physiopathology; Neurologic Examination; Magnetic Resonance Spectroscopy; Developmental Disabilities/diagnosis; Aspartic Acid/analogs & derivatives/metabolism; Carbohydrate-Deficient Glycoprotein Syndrome/diagnosis; Inborn/diagnosis; Lactic Acid/metabolism; Nerve Degeneration/diagnosis; Stroke/diagnosis
Creator
An entity primarily responsible for making the resource
Pearl PL; Krasnewich D
Description
An account of the resource
Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and neuropathy. The metabolic defect is in N-linked oligosaccharide synthesis, and diagnosis is made by a serum transferrin isoelectric focusing. We reviewed the neurologic course of 10 children with congenital disorders of glycosylation (ages 13 months to 7 years). All had severe developmental delay and ataxia; none walked unassisted, and the highest level of communication was simple sign language in one patient. Five of 10 children had seizures (absence, complex partial, tonic clonic). Only one patient has had strokelike episodes, despite reports that they are common in this population. The underlying basis of these episodes has been hypothesized to be coagulopathy due to dysfunctional, incorrectly glycosylated coagulation factors. This 5-year-old patient with congenital disorders of glycosylation type Ia had two strokelike episodes, with evolving hemiparesis over 5 to 6 days' duration, followed by focal tonic-clonic seizures. Coagulation studies were normal. Electroencephalography showed transient hemispheric polymorphous delta-range slowing and suppression. Magnetic resonance imaging revealed corresponding cortical swelling. Magnetic resonance angiography was normal. Magnetic resonance spectroscopy revealed a decrease in the N-acetylaspartate peak, suggesting neuronal loss, with normal lactate peak. The neuroradiologic data do not support a thrombotic, embolic, or hemorrhagic basis for strokelike episodes in carbohydrate-deficient glycoprotein syndrome; other mechanisms must be considered.
2001
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.2310/7010.2001.7199" target="_blank" rel="noreferrer">10.2310/7010.2001.7199</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2001
Aspartic Acid/analogs & derivatives/metabolism
Backlog
Brain Diseases
Brain/pathology/physiopathology
Carbohydrate-Deficient Glycoprotein Syndrome/diagnosis
Child
Developmental Disabilities/diagnosis
Epilepsy/diagnosis
Female
Humans
Inborn/diagnosis
Infant
Journal Article
Journal of Child Neurology
Krasnewich D
Lactic Acid/metabolism
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male
Metabolic
Nerve Degeneration/diagnosis
Neurologic Examination
Pearl PL
Preschool
Q3 Scoping Review Results
Stroke/diagnosis
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10590905" target="_blank" rel="noreferrer">http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10590905</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Current concepts of cerebral malformation syndromes
Publisher
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Current Opinion In Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
1999
Subject
The topic of the resource
Child; Magnetic Resonance Imaging; Syndrome; Human; Brain Diseases/diagnosis/pathology/physiopathology; Nervous System Malformations/diagnosis/pathology/physiopathology; Cerebral Palsy/diagnosis/pathology/physiopathology; Muscular Dystrophies/diagnosis/pathology/physiopathology
Creator
An entity primarily responsible for making the resource
Lequin MH; Barkovich AJ
Description
An account of the resource
In the past, children with many brain malformations were classified as having static encephalopathies (cerebral palsy), often attributed to perinatal or prenatal distress. Understanding of the frequency and clinical manifestations of brain malformations, however, has increased dramatically in the past 10 to 15 years. During this time, it has become apparent that many static encephalopathies in children have a brain malformation as their substrate. Most of the increase in our knowledge can be attributed to advances in neuroimaging and in molecular biology. In general, radiologic analysis of the brain allows similar malformations to be classified together. Subsequent genetic analysis of the affected children often reveals the affected gene, leading to identification of the gene product and, ideally, an ultimate understanding of the molecular mechanism of malformation. Currently, many genes involved in the complicated process of neuronal proliferation, migration, and organization are being identified. Knowledge of these genes and a better radiologic classification system enable the referring physician to give better care, more sophisticated genetic counseling, and a more precise prognosis for the child. To illustrate this mechanism of classification, three groups of malformations are discussed, in which a combination of neuroimaging analysis and molecular biologic analysis have led to a new understanding of the malformation syndromes.
1999
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Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1999
Backlog
Barkovich AJ
Brain Diseases/diagnosis/pathology/physiopathology
Cerebral Palsy/diagnosis/pathology/physiopathology
Child
Current Opinion In Pediatrics
Human
Journal Article
Lequin MH
Magnetic Resonance Imaging
Muscular Dystrophies/diagnosis/pathology/physiopathology
Nervous System Malformations/diagnosis/pathology/physiopathology
Syndrome
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ana.22614" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.22614</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Physiological stress and brain vulnerability: understanding the neurobiology of connectivity in preterm infants
Publisher
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Annals Of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Subject
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Female; Humans; infant; Male; Intensive Care Units; Pregnancy; Developmental Disabilities; Magnetic Resonance Imaging; Brain; Infant Behavior; Neonatal; Premature
Creator
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Msall ME
Identifier
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<a href="http://doi.org/10.1002/ana.22614" target="_blank" rel="noreferrer">10.1002/ana.22614</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2011
Annals Of Neurology
Backlog
Brain
Developmental Disabilities
Female
Humans
Infant
Infant Behavior
Intensive Care Units
Journal Article
Magnetic Resonance Imaging
Male
Msall ME
Neonatal
Pregnancy
Premature