1
40
3
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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
Backlog
URL Address
<a href="http://doi.org/10.1542/peds.2004-0887" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.2004-0887</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 type B Niemann-Pick disease: Results from a 10-year longitudinal study.
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
2004
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Middle Aged; Disease Progression; Longitudinal Studies; Phenotype; adolescent; Preschool; Q3 Literature Search; Splenomegaly/etiology; Genotype; Blood Cell Count; Hypersplenism/etiology; Leukopenia/etiology; Lipids/blood; Liver/physiopathology; Niemann-Pick Diseases/blood/complications/genetics/physiopathology; Respiratory Physiology; Thrombocytopenia/etiology
Creator
An entity primarily responsible for making the resource
Wasserstein MP; Desnick RJ; Schuchman EH; Hossain S; Wallenstein S; Lamm C; McGovern MM
Description
An account of the resource
OBJECTIVES: Type B Niemann-Pick disease (NPD-B) caused by acid sphingomyelinase deficiency is a rare, autosomal recessive, lysosomal storage disorder with a broad range of disease severity. The objectives of this study were to document the natural history of the disease in a large, clinically heterogeneous patient population that was followed for a period of 10 years and to determine how genotype influences phenotype. METHODS: Twenty-nine patients with NPD-B had serial evaluations at least 9 months apart. Organ volumes, hematologic indices, lipid concentrations, pulmonary function, and hepatic activity were studied, and individual phenotypic severity was compared with genotype. RESULTS: All patients with intact spleens had splenomegaly (mean value: 12.7 multiples of normal [MN]; range: 4.5-27.3 MN), and all but 1 had hepatomegaly (mean volume: 1.91 MN; range: 0.93-3.21 MN). At initial visit, 39% had thrombocytopenia and 3% had leukopenia. At final visit, the percentages increased to 54% and 34%, respectively. Mean annual decreases in platelet count and leukocyte count were 7 x 10(3) and 0.2 x 10(3) per mm3, respectively. The typical atherogenic lipid profile was worse in older patients. A total of 69% of patients had low diffusion capacity for carbon monoxide, and more than one third had low forced expiratory volume in 1 second, forced vital capacity, and forced expiratory volume in 1 second/forced vital capacity at initial visit. All measurements of pulmonary function showed a gradual deterioration over time. Liver dysfunction was characterized by stable elevation of hepatic transaminases and bilirubin. Homozygotes for DeltaR608, P323A, and P330R had milder disease than patients with all other genotypes. CONCLUSIONS: The natural history of NPD-B is characterized by hepatosplenomegaly with progressive hypersplenism, worsening atherogenic lipid profile, gradual deterioration in pulmonary function, and stable liver dysfunction.
2004
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.2004-0887" target="_blank" rel="noreferrer">10.1542/peds.2004-0887</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
Blood Cell Count
Child
Desnick RJ
Disease Progression
Female
Genotype
Hossain S
Humans
Hypersplenism/etiology
Journal Article
Lamm C
Leukopenia/etiology
Lipids/blood
Liver/physiopathology
Longitudinal Studies
Male
McGovern MM
Middle Aged
Niemann-Pick Diseases/blood/complications/genetics/physiopathology
Pediatrics
Phenotype
Preschool
Q3 Scoping Review Results
Respiratory Physiology
Schuchman EH
Splenomegaly/etiology
Thrombocytopenia/etiology
Wallenstein S
Wasserstein MP
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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
Backlog
URL Address
<a href="http://doi.org/10.1001/jama.1996.03540070057031" target="_blank" rel="noreferrer">http://doi.org/10.1001/jama.1996.03540070057031</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
Niemann-Pick disease type C: From bench to bedside.
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
1996
Subject
The topic of the resource
Female; Humans; infant; Male; Adult; Disease Progression; Longitudinal Studies; Genetic Counseling; Newborn; Age of Onset; Cholesterol/metabolism; Esterification; Fibroblasts/pathology; Foam Cells/pathology; Histiocytes/pathology; Intelligence Tests; Jaundice; Neonatal/etiology; Nervous System Diseases/etiology; Niemann-Pick Diseases/diagnosis/genetics/pathology/physiopathology/therapy; Splenomegaly/etiology
Creator
An entity primarily responsible for making the resource
Schiffmann R
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1001/jama.1996.03540070057031" target="_blank" rel="noreferrer">10.1001/jama.1996.03540070057031</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
1996
1996
Adult
Age of Onset
Backlog
Cholesterol/metabolism
Disease Progression
Esterification
Female
Fibroblasts/pathology
Foam Cells/pathology
Genetic Counseling
Histiocytes/pathology
Humans
Infant
Intelligence Tests
JAMA
Jaundice
Journal Article
Longitudinal Studies
Male
Neonatal/etiology
Nervous System Diseases/etiology
Newborn
Niemann-Pick Diseases/diagnosis/genetics/pathology/physiopathology/therapy
Schiffmann R
Splenomegaly/etiology
-
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)81695-6" target="_blank" rel="noreferrer">http://doi.org/10.1016/s0022-3476(05)81695-6</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
Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver 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
1993
Subject
The topic of the resource
Child; Female; Humans; Male; Prognosis; Age Factors; Biopsy; Preschool; infant; Q3 Literature Search; retrospective studies; Splenomegaly/etiology; Liver/pathology; Liver Function Tests; Developmental Disabilities/etiology; Kupffer Cells/pathology; Liver Diseases/diagnosis/etiology/mortality; Niemann-Pick Diseases/complications/diagnosis/mortality
Creator
An entity primarily responsible for making the resource
Kelly DA; Portmann B; Mowat AP; Sherlock S; Lake BD
Description
An account of the resource
The records of 52 children with Niemann-Pick disease type C were reviewed to establish whether the disease process and outcome varied with the initial clinical pattern; 34 children (65%) had cholestatic liver disease and hepatosplenomegaly in infancy; 18 were seen at a mean age of 4 years with splenomegaly or neurologic disease or both. Of the 34 children with early cholestatic liver disease, three died in the neonatal period; cholestasis and hepatomegaly subsided in the remaining 31 children, although splenomegaly persisted. Of these 31 children, 15 had persistent liver disease with elevated aminotransferase values. Serial liver biopsy specimens showed that 3 of the 15 children had normal architecture and 12 had hepatic fibrosis, with progression to cirrhosis in 5. No other significant morbidity or additional deaths were associated with the liver disease. The clinical importance of persistent liver disease was overshadowed by the subsequent development of severe neurologic disease. There was no difference in the age at onset of the disease (mean, 4.5 years) or in the pattern of neurologic disease, including supranuclear ophthalmoplegia, whether or not the child had early liver disease. Overt neurologic disease has not yet developed in seven surviving children with liver disease at onset. Sixty-seven percent of children died during the study; the main cause of death was bronchopneumonia. We conclude that the diagnosis of Niemann-Pick disease type C should be considered in patients with unexplained neonatal hepatitis, especially if splenomegaly is a persistent feature. Because liver biopsy specimens may not demonstrate storage cells, bone marrow aspiration to detect the characteristic storage cells is recommended in such patients.
1993
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/s0022-3476(05)81695-6" target="_blank" rel="noreferrer">10.1016/s0022-3476(05)81695-6</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
1993
Age Factors
Backlog
Biopsy
Child
Developmental Disabilities/etiology
Female
Humans
Infant
Journal Article
Kelly DA
Kupffer Cells/pathology
Lake BD
Liver Diseases/diagnosis/etiology/mortality
Liver Function Tests
Liver/pathology
Male
Mowat AP
Niemann-Pick Diseases/complications/diagnosis/mortality
Portmann B
Preschool
Prognosis
Q3 Scoping Review Results
Retrospective Studies
Sherlock S
Splenomegaly/etiology
The Journal Of Pediatrics