1
40
10
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Dublin Core
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Title
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
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URL Address
<a href="http://doi.org/10.1002/ajmg.1320410215" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.1320410215</a>
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Title
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Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates
Publisher
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American Journal of Medical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
1991
Subject
The topic of the resource
Brain/pathology; Male; Electroencephalography; Humans; Prospective Studies; Female; Child Preschool; Infant; Neuropsychological Tests; Psychomotor Performance; Intelligence; Atrophy; Achondroplasia/complications/physiopathology/psychology; Evoked Potentials Somatosensory; Intellectual Disability/etiology; Respiration Disorders/etiology/physiopathology; Sleep Apnea Syndromes/etiology/physiopathology; sleep disturbance; tone and motor problems; achondroplasia; trajectory; characteristics; respiratory dysfunction
Creator
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Hecht J T; Thompson N M; Weir T; Patchell L; Horton W A
Description
An account of the resource
Thirteen infants with achondroplasia underwent psychometric testing as part of a comprehensive neurologic assessment. As a group, mental development was average and motor development was delayed, although a wide range of scores was obtained. Foramen magnum measurements were correlated with respiratory dysfunction, abnormal somatosensory evoked potentials, and delayed motor development. Abnormal polysomnogram outcome was associated with reduced mental capacity. In light of the reported increased frequency of respiratory dysfunction in achondroplasia, these findings warrant careful attention and further study.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.1320410215" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320410215</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).
1991
achondroplasia
Achondroplasia/complications/physiopathology/psychology
American Journal Of Medical Genetics
Atrophy
Brain/pathology
characteristics
Child Preschool
Electroencephalography
Evoked Potentials Somatosensory
Female
Hecht J T
Horton W A
Humans
Infant
Intellectual Disability/etiology
Intelligence
Male
Neuropsychological Tests
Patchell L
Prospective Studies
Psychomotor Performance
Respiration Disorders/etiology/physiopathology
respiratory dysfunction
Sleep Apnea Syndromes/etiology/physiopathology
sleep disturbance
Thompson N M
tone and motor problems
Trajectory
Weir T
-
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/10.1177/0883073807309254" target="_blank" rel="noreferrer">http://doi.org/10.1177/0883073807309254</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
Diagnostic yield of brain biopsies in children presenting to neurology
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
2008
Subject
The topic of the resource
Child; Female; Humans; Male; Odds Ratio; Predictive Value of Tests; Outcome and Process Assessment (Health Care); Preschool; infant; retrospective studies; Brain/pathology; Diagnosis; Differential; Children W/SNI; Epilepsy/pathology; Likelihood Functions; Decision Trees; Biopsy/statistics & numerical data; Brain Diseases/pathology; Neurodegenerative Diseases/pathology; Vasculitis/pathology
Creator
An entity primarily responsible for making the resource
Venkateswaran S; Hawkins C; Wassmer E
Description
An account of the resource
The role of brain biopsy is well established in patients with neoplastic lesions, with a diagnostic yield approaching 95%. The diagnostic yield of brain biopsy in adults with neurological decline varies from 20% to 43%. Only a few studies have examined the diagnostic yield of brain biopsy in children with idiopathic neurological decline. A retrospective analysis was conducted on all open and closed pediatric brain biopsies performed between January 1988 and May 2003. Biopsies were performed for diagnostic purposes in patients showing a progressively deteriorating neurologic course in whom less-invasive modalities such as neuroimaging, electroencephalography (EEG), and molecular genetic studies were either negative or inconclusive. Immunocompromised patients were included. Patients were excluded if the preoperative diagnosis was a neoplasm or if the patient was undergoing a resection as part of a work-up for intractable epilepsy. Each patient underwent numerous investigations before brain biopsy. The utility of each biopsy was analyzed. Sixty-six children had brain biopsies performed for diagnostic purposes during the study period. Patient ages ranged from 2 months to 16 years and 9 months at the time of biopsy. The diagnostic yield was 48.5% overall, with a yield of 68.8% between 1996 and 2003. Of the total, 26 (39.4%) biopsies were both diagnostic and useful. Patients most frequently presented with seizures (56.1%) and encephalopathy (33%). The most frequently diagnosed disease was vasculitis (18.2%). A total of 71.9% of patients with diagnostic biopsies improved with appropriate treatment. Brain biopsy in children had a diagnostic yield of 48.5% in our series. A specific diagnosis may help in management and outcome, especially with a diagnosis of vasculitis.
2008
Identifier
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<a href="http://doi.org/10.1177/0883073807309254" target="_blank" rel="noreferrer">10.1177/0883073807309254</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
2008
Backlog
Biopsy/statistics & numerical data
Brain Diseases/pathology
Brain/pathology
Child
Children W/SNI
Decision Trees
Diagnosis
Differential
Epilepsy/pathology
Female
Hawkins C
Humans
Infant
Journal Article
Journal of Child Neurology
Likelihood Functions
Male
Neurodegenerative Diseases/pathology
Odds Ratio
Outcome And Process Assessment (health Care)
Predictive Value of Tests
Preschool
Retrospective Studies
Vasculitis/pathology
Venkateswaran S
Wassmer E
-
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
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Clinical and MRI correlates of cerebral palsy: the European Cerebral Palsy Study
Publisher
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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
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<a href="http://doi.org/10.1001/jama.296.13.1602" target="_blank" rel="noreferrer">10.1001/jama.296.13.1602</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
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
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Complexity of the cerebral palsy syndromes: toward a developmental neuroscience approach
Publisher
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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
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<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/10.1089/152308604773934378" target="_blank" rel="noreferrer">http://doi.org/10.1089/152308604773934378</a>
Dublin Core
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Title
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Nitric oxide as a prognostic marker for neurological diseases
Publisher
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Antioxidants & Redox Signaling
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; Humans; Adult; Prognosis; Animals; Biomarkers of Pain; Brain/pathology; Children W/SNI; Brain Neoplasms/cerebrospinal fluid/diagnosis; Cerebrospinal Fluid; Craniocerebral Trauma/cerebrospinal fluid/diagnosis; Electron Spin Resonance Spectroscopy/methods; Meningitis/cerebrospinal fluid/diagnosis; Nervous System Diseases/cerebrospinal fluid/diagnosis/mortality; Nitric Oxide/cerebrospinal fluid/metabolism
Creator
An entity primarily responsible for making the resource
Bratasz A; Kuter I; Konior R; Goscinski I; Lukiewicz S
Description
An account of the resource
The potential value of the nitric oxide (NO) level as a prognostic marker in human brain diseases is investigated. Cerebrospinal fluid (CSF) collected from neurological patients was examined for NO content using electron paramagnetic resonance (EPR) spectroscopy. In adult patients with meningitis, the level of NO was higher than that in other groups of brain disorders, such as brain traumas and brain tumors. Very high levels of NO in the CSF appeared to be correlated with a high incidence of fatal outcomes. In children with meningitis, it was possible to differentiate between viral and bacterial origin of the disease as evidenced by the EPR analysis of the CSF. The results indicated that NO levels in the CSF can be a useful prognostic marker in neurological diseases.
2004
Identifier
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<a href="http://doi.org/10.1089/152308604773934378" target="_blank" rel="noreferrer">10.1089/152308604773934378</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
Adult
Animals
Antioxidants & Redox Signaling
Backlog
Biomarkers of Pain
Brain Neoplasms/cerebrospinal fluid/diagnosis
Brain/pathology
Bratasz A
Cerebrospinal Fluid
Child
Children W/SNI
Craniocerebral Trauma/cerebrospinal fluid/diagnosis
Electron Spin Resonance Spectroscopy/methods
Goscinski I
Humans
Journal Article
Konior R
Kuter I
Lukiewicz S
Meningitis/cerebrospinal fluid/diagnosis
Nervous System Diseases/cerebrospinal fluid/diagnosis/mortality
Nitric Oxide/cerebrospinal fluid/metabolism
Prognosis
-
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.59.7.1058" 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/10.1007/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/s0022-3476(05)80736-x" target="_blank" rel="noreferrer">http://doi.org/10.1016/s0022-3476(05)80736-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
Liver involvement in Alpers disease
Publisher
An entity responsible for making the resource available
The Journal Of Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
1991
Subject
The topic of the resource
Child; Female; Humans; Male; Biopsy; Preschool; Syndrome; infant; Q3 Literature Search; Brain/pathology; Liver Function Tests; Diffuse Cerebral Sclerosis of Schilder/diagnosis/metabolism/pathology; Liver/metabolism/pathology; Status Epilepticus/diagnosis/metabolism/pathology
Creator
An entity primarily responsible for making the resource
Narkewicz MR; Sokol RJ; Beckwith B; Sondheimer J; Silverman A
Description
An account of the resource
Alpers disease consists of diffuse cerebral degeneration manifested as developmental delay, seizures, vomiting, and progressive neuromuscular deterioration, with liver disease and death. We report the clinical course of the liver disease, histologic progression of the hepatic lesions, and etiologic investigations in five patients (four girls, three kinships). All had grown and developed normally until seen at 6 to 36 months of age (mean 20 months), with vomiting (n = 5), progressive hypotonia (n = 3), or seizures (n = 2). All had been given anticonvulsants, including valproic acid in three. Liver disease was noted at a mean age of 35 months (range 9 to 67 months), with hepatomegaly (two patients), abnormal hepatic synthetic function (three) or transaminase values (three), and cirrhosis in one. Patients survived for a mean of 4.6 weeks (range 1 to 8 weeks) after the identification of liver disease; all died of hepatic failure. Results of evaluation for infectious and metabolic causes of liver disease and causes of degenerative neuromuscular disease were negative in all patients. Premortem liver biopsy specimens (n = 3) demonstrated an early lesion consisting of lobular disarray, microvesicular steatosis, periportal acute and chronic inflammation, and individual hepatocyte necrosis. Autopsy findings (n = 5) consisted of macrovesicular steatosis, massive hepatocyte dropout, and proliferation of bile ductular elements, with almost complete replacement of hepatocytes by proliferating bile ductular elements in two patients. Brain showed characteristic neuronal degeneration. We conclude that Alpers disease can be a cause of rapidly progressive liver failure in early childhood. Although the cause of this autosomal recessive disease is not known, it does not appear to be related to peroxisomal dysfunction.
1991
Identifier
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<a href="http://doi.org/10.1016/s0022-3476(05)80736-x" target="_blank" rel="noreferrer">10.1016/s0022-3476(05)80736-x</a>
Rights
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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
1991
Backlog
Beckwith B
Biopsy
Brain/pathology
Child
Diffuse Cerebral Sclerosis of Schilder/diagnosis/metabolism/pathology
Female
Humans
Infant
Journal Article
Liver Function Tests
Liver/metabolism/pathology
Male
Narkewicz MR
Preschool
Q3 Scoping Review Results
Silverman A
Sokol RJ
Sondheimer J
Status Epilepticus/diagnosis/metabolism/pathology
Syndrome
The Journal Of Pediatrics
-
Text
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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
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Title
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Update on genetic disorders affecting white matter
Publisher
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Pediatric Neurology
Date
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2001
Subject
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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
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Kaye EM
Description
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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