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Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation.

https://arctichealth.org/en/permalink/ahliterature37379
Source
Dev Neurosci. 1991;13(4-5):345-51
Publication Type
Article
Date
1991
Author
L. Svennerholm
A. Erikson
C G Groth
O. Ringdén
J E Månsson
Author Affiliation
Department of Psychiatry and Neurochemistry, University of Göteborg, St. Jörgen Hospital, Hisings Backa, Sweden.
Source
Dev Neurosci. 1991;13(4-5):345-51
Date
1991
Language
English
Publication Type
Article
Keywords
Adolescent
Bone Marrow Transplantation
Brain - pathology
Child
Child, Preschool
DNA - genetics
Female
Fibroblasts - enzymology
Foam Cells - metabolism - pathology
Follow-Up Studies
Gaucher Disease - classification - epidemiology - genetics - metabolism - pathology - surgery
Glucosylceramidase - analysis - deficiency - genetics - therapeutic use
Glucosylceramides - metabolism
Humans
Infant
Lymphocytes - enzymology
Male
Mutation
Research Support, Non-U.S. Gov't
Splenectomy - adverse effects
Sweden - epidemiology
Abstract
The Norrbottnian type of Gaucher disease is a well defined nosological entity with a characteristic course and clinical manifestations. The disease is caused by a deficiency of the enzyme glucosylceramidase (cerebroside-beta-glucosidase). Studies of genomic DNA and cDNA encoding the enzyme show a single base substitution in exon 10 in the Norrbottnian patients. The enzymic lesion causes an accumulation of glucosylceramide and glucosylsphingosine in cells of the monocyte-macrophage system, particularly in spleen, liver and bone marrow. Early splenectomy results in severe symptoms from skeleton and CNS, owing to accelerated storage of glucosylceramide in these organs. Bone marrow transplantation had a life-saving effect and seems to be the method of choice for beneficial enzyme replacement therapy.
PubMed ID
1817041 View in PubMed
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Visceral fat and coronary pathology in male adolescents.

https://arctichealth.org/en/permalink/ahliterature53911
Source
Int J Obes Relat Metab Disord. 2001 Feb;25(2):228-32
Publication Type
Article
Date
Feb-2001
Author
M L Kortelainen
T. Särkioja
Author Affiliation
University of Oulu, Department of Forensic Medicine, Oulu, Finland. Marja-Leena.Kortelainen@oulu.fi
Source
Int J Obes Relat Metab Disord. 2001 Feb;25(2):228-32
Date
Feb-2001
Language
English
Publication Type
Article
Keywords
Adipose Tissue - anatomy & histology
Adolescent
Adult
Arteries - pathology
Autopsy
Body Composition
Body constitution
Body mass index
Coronary Disease - pathology
Foam Cells
Humans
Immunohistochemistry
Macrophages
Male
Mesenteric Arteries - pathology
Omentum
Research Support, Non-U.S. Gov't
Tunica Intima - pathology
Abstract
OBJECTIVE: To find out whether coronary atherosclerotic lesions and their precursors in male adolescents are associated with the amount of mesenteric and omental fat. SUBJECTS: A series of 40 forensic autopsy cases of ante-mortem healthy boys of 13-19 y of age were investigated. METHODS: Body height and weight, waist and hip circumferences and the thickness of the abdominal subcutaneous fat were measured, the body mass index (BMI) and waist-to-hip ratio (WHR) were calculated, and omental and mesenteric fat deposits were weighed. The intimal surface of the coronary arteries covered by lesions was measured by planimetry, and the thickness of the intima was measured by computerized image analysis. Intimal macrophage foam cells and smooth muscle cells were detected by immunohistochemisty, and macrophages were quantified. RESULTS: The intima thickness of the left anterior descending artery (LAD) and in the thickest lesion varied significantly across the tertiles of visceral fat when adjusted for age, being highest when the sum weight of omental and mesenteric fat exceeded 358 g. The intima thickness of the circumflex artery (CX) varied significantly across the tertiles of waist circumference when adjusted for age. No statistically significant associations with other indicators of obesity were found. Macrophage foam cells were present in the lesions and their maximal density/mm(2) correlated significantly with intima thickness in the LAD and CX. The maximal density of macrophages in CX and the right coronary artery (RCA) and in the thickest lesion varied significantly across the tertiles of visceral fat when adjusted for age, being highest when the amount of fat exceeded 358 g. The macrophage density also varied significantly across the tertiles of waist circumference in all vessels. CONCLUSIONS: The results indicate that early macrophage-rich coronary lesions are associated with increased amounts of visceral fat in adolescent male individuals. This emphasizes the importance of effective prevention of weight gain in individuals with a tendency to accumulate visceral fat at an early age.
PubMed ID
11410824 View in PubMed
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