1
40
5
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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
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URL Address
<a href="http://doi.org/10.1007/s10545-007-0426-0" target="_blank" rel="noreferrer">http://doi.org/10.1007/s10545-007-0426-0</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
Mitochondrial disease: needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phase.
Publisher
An entity responsible for making the resource available
Journal Of Inherited Metabolic Disease
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Child; Humans; Adult; Parent-Child Relations; Interviews as Topic; Questionnaires; Pilot Projects; Research Design; Longitudinal Studies; Patient Selection; Reproducibility of Results; Mitochondrial Diseases/diagnosis/psychology; Parents/education
Creator
An entity primarily responsible for making the resource
Noorda G; Hermans-Peters M; Smeitink JA; van Achterberg T; Kemps H; Goverde W; Schoonhoven L
Description
An account of the resource
OBJECTIVE: Firstly, this paper aims to systematically review the mitochondrial disease literature to identify studies assessing the needs and problems in the daily life of children with a mitochondrial disease and of their parents and family. The second aim is to provide more insight into the need for information by the parents of these children during the diagnostic process while in hospital. DESIGN: A systematic review and a pilot study, using a qualitative (focus group interviews; n = 7) and a quantitative (questionnaire; n = 37) design. RESULTS: Mothers reported great socioeconomic and psychoaffective strain and showed psychopathological symptoms in the two studies published with respect to this topic. The pilot study showed that parents considered an honest and interested attitude of the person who is giving the information as most important. Furthermore they wanted oral and written information and a central point where they could go with their questions at any time they felt the need. The need for information increased during the four phases of the diagnostic process and was highest in the fourth phase. CONCLUSIONS: The few studies found in the review, combined with expectations that having a mitochondrial disease must have a great impact on these children and their parents and family, call for more research in their needs and problems. Furthermore, there are gaps in the current information provision to parents of these children. A better understanding of the needs and problems of these children and their family is essential for effective care planning and might result in an improved quality of life.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s10545-007-0426-0" target="_blank" rel="noreferrer">10.1007/s10545-007-0426-0</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
2007
Adult
Backlog
Child
Goverde W
Hermans-Peters M
Humans
Interviews As Topic
Journal Article
Journal Of Inherited Metabolic Disease
Kemps H
Longitudinal Studies
Mitochondrial Diseases/diagnosis/psychology
Noorda G
Parent-child Relations
Parents/education
Patient Selection
Pilot Projects
Questionnaires
Reproducibility of Results
Research Design
Schoonhoven L
Smeitink JA
van Achterberg 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/10.1016/j.ejpn.2007.01.004" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.ejpn.2007.01.004</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
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
Publisher
An entity responsible for making the resource available
European Journal Of Paediatric Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Child; Female; Humans; Adult; Mutation; adolescent; Q3 Literature Search; DNA Mutational Analysis; Pedigree; DNA; Mitochondrial/genetics; MERRF Syndrome/complications/genetics/physiopathology; Muscular Diseases/etiology/genetics/physiopathology; Pain/etiology/genetics/physiopathology; Polymerase Chain Reaction
Creator
An entity primarily responsible for making the resource
van de Glind G; de Vries M; Rodenburg R; Hol F; Smeitink JA; Morava E
Description
An account of the resource
The characteristic clinical presentation, especially the appearance of muscle symptoms, is quite unique in children carrying the mtA8344G mutation. The diagnosis of MERRF syndrome is seldom made in the pediatric age. Fatigue is a common finding in children of pubertal age. Fatigue in combination with recurrent resting muscle pain occurs frequently in the initial phase of various hereditary muscle disorders and in several autoimmune, endocrine and metabolic syndromes. In the absence of obvious biochemical/metabolic abnormalities and in the lack of neurological symptoms the complaints are frequently labelled as fibromyalgia or chronic fatigue syndrome. In patients with behavioural or psychiatric abnormalities one might even start to question the organic etiology of the complaints. We describe a family carrying the classic MTTK mutation with a variable degree of heteroplasmy, presenting in childhood as isolated recurrent muscle pain as the first symptom of the disease.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.ejpn.2007.01.004" target="_blank" rel="noreferrer">10.1016/j.ejpn.2007.01.004</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
2007
Adolescent
Adult
Backlog
Child
de Vries M
DNA
DNA Mutational Analysis
European Journal of Paediatric Neurology
Female
Hol F
Humans
Journal Article
MERRF Syndrome/complications/genetics/physiopathology
Mitochondrial/genetics
Morava E
Muscular Diseases/etiology/genetics/physiopathology
Mutation
Pain/etiology/genetics/physiopathology
Pedigree
Polymerase Chain Reaction
Q3 Scoping Review Results
Rodenburg R
Smeitink JA
van de Glind 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/10.1016/j.nmd.2006.08.006" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.nmd.2006.08.006</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
A scale to monitor progression and treatment of mitochondrial disease in children.
Publisher
An entity responsible for making the resource available
Neuromuscular Disorders
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; infant; Male; Great Britain; Prognosis; Disease Progression; Longitudinal Studies; Reproducibility of Results; Observer Variation; Predictive Value of Tests; Disability Evaluation; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Pediatrics/methods; Mitochondrial Diseases/diagnosis/therapy; Mitochondrial Encephalomyopathies/diagnosis/therapy; Neurology/methods
Creator
An entity primarily responsible for making the resource
Phoenix C; Schaefer AM; Elson JL; Morava E; Bugiani M; Uziel G; Smeitink JA; Turnbull DM; McFarland R
Description
An account of the resource
Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric patients this can be explained by a cumulative disability acquired over many years. In others, additional factors, including the nature and severity of the molecular defect, must be considered. To date, no large-scale studies have attempted to document the natural history of paediatric mitochondrial disease. This is in part at least, because no assessment tool has been available to plot the temporal course of a disease with such a diverse clinical spectrum. This paper describes how a practical and semi-quantitative rating scale has been devised for children with mitochondrial disease, the Newcastle paediatric mitochondrial disease scale (NPMDS). The scale is multi-dimensional and reproducible, offering a tool through which mitochondrial disease progression can be objectively monitored. We anticipate that use of this tool will facilitate both longitudinal natural history studies and the assessment of future therapeutic interventions.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.nmd.2006.08.006" target="_blank" rel="noreferrer">10.1016/j.nmd.2006.08.006</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
Adolescent
Backlog
Bugiani M
Child
Disability Evaluation
Disease Progression
Elson JL
Female
Great Britain
Humans
Infant
Journal Article
Longitudinal Studies
Male
McFarland R
Mitochondrial Diseases/diagnosis/therapy
Mitochondrial Encephalomyopathies/diagnosis/therapy
Morava E
Neurology/methods
Neuromuscular Disorders
Newborn
Observer Variation
Pediatrics/methods
Phoenix C
Predictive Value of Tests
Preschool
Prognosis
Q3 Scoping Review Results
Reproducibility of Results
Schaefer AM
Smeitink JA
Turnbull DM
Uziel 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/10.1023/b:boli.0000028836.91788.30" target="_blank" rel="noreferrer">http://doi.org/10.1023/b:boli.0000028836.91788.30</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
Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
Publisher
An entity responsible for making the resource available
Journal Of Inherited Metabolic Disease
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; Male; Siblings; Fatal Outcome; Preschool; infant; Q3 Literature Search; Bulbar Palsy; Mitochondrial Diseases/complications/diagnosis; Progressive/diagnosis/etiology
Creator
An entity primarily responsible for making the resource
Roeleveld-Versteegh AB; Braun KP; Smeitink JA; Dorland L; de Koning TJ
Description
An account of the resource
We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in differential diagnosis of this rare clinical entity.
2004
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1023/b:boli.0000028836.91788.30" target="_blank" rel="noreferrer">10.1023/b:boli.0000028836.91788.30</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
Backlog
Braun KP
Bulbar Palsy
Child
de Koning TJ
Dorland L
Fatal Outcome
Humans
Infant
Journal Article
Journal Of Inherited Metabolic Disease
Male
Mitochondrial Diseases/complications/diagnosis
Preschool
Progressive/diagnosis/etiology
Q3 Scoping Review Results
Roeleveld-Versteegh AB
Siblings
Smeitink JA
-
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.112.2.332" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.112.2.332</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 course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
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
2003
Subject
The topic of the resource
Humans; infant; Disease Progression; Mutation; Survival Analysis; Child Development; infant; Premature; AIM; IM; Blood Chemical Analysis; alpha-Glucosidases/ge [Genetics]; alpha-Glucosidases/me [Metabolism]; Brain/pa [Pathology]; Cardiomegaly/di [Diagnosis]; Cardiomegaly/et [Etiology]; Glycogen Storage Disease Type II/co [Complications]; Glycogen Storage Disease Type II/mo [Mortality]; Glycogen Storage Disease Type II/pp [Physiopathology]; Netherlands/ep [Epidemiology]; Newborn/gd [Growth & Development]
Creator
An entity primarily responsible for making the resource
van den Hout HM; Hop W; van Diggelen OP; Smeitink JA; Smit GP; Poll-The BT; Bakker HD; Loonen MC; de Klerk JB; Reuser AJ; Van der Ploeg AT
Description
An account of the resource
OBJECTIVE: Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. METHODS: A total of 20 infantile patients diagnosed by the collaborative Dutch centers and 133 cases reported in literature were included in the study. Information on clinical history, physical examination, and diagnostic parameters was collected. RESULTS: The course of Pompe's disease is essentially the same in the Dutch and the general patient population. Symptoms start at a median age of 1.6 months in both groups. The median age of death is 7.7 and 6 months, respectively. Five percent of the Dutch patients and 8% of all reported patients survive beyond 1 year of age. Only 2 patients from literature became older than 18 months. A progressive cardiac hypertrophy is characteristic for infantile Pompe's disease. The diastolic thickness of the left ventricular posterior wall and cardiac weight at autopsy increase significantly with age. Motor development is severely delayed and major developmental milestones are generally not achieved. For the Dutch patient group, growth deviates significantly from normal despite start of nasogastric tube feeding. Levels of aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, creatine kinase, or creatine kinase-myocardial band isoenzyme are typically elevated, although aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase increase significantly with age. The patients have fully deleterious mutations. Acid alpha-glucosidase activity is severely deficient. CONCLUSIONS: Survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies of infantile Pompe's disease. Mutation analysis and measurement of the alpha-glucosidase activity should be part of the enrollment program. [References: 111]
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.112.2.332" target="_blank" rel="noreferrer">10.1542/peds.112.2.332</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
AIM
alpha-Glucosidases/ge [Genetics]
alpha-Glucosidases/me [Metabolism]
Backlog
Bakker HD
Blood Chemical Analysis
Brain/pa [Pathology]
Cardiomegaly/di [Diagnosis]
Cardiomegaly/et [Etiology]
Child Development
de Klerk JB
Disease Progression
Glycogen Storage Disease Type II/co [Complications]
Glycogen Storage Disease Type II/mo [Mortality]
Glycogen Storage Disease Type II/pp [Physiopathology]
Hop W
Humans
IM
Infant
Journal Article
Loonen MC
Mutation
Netherlands/ep [Epidemiology]
Newborn/gd [Growth & Development]
Pediatrics
Poll-The BT
Premature
Reuser AJ
Smeitink JA
Smit GP
Survival Analysis
van den Hout HM
Van der Ploeg AT
van Diggelen OP