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At least 739 records · Page 41Linked to original sources
PubMed1997

Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications.

The eponym "Niemann-Pick disease" includes two metabolically distinct entities. Niemann-Pick type C (NPC) is characterized by unique abnormalities of intracellular transport of exogenous cholesterol with sequestration of unesterified cholesterol in lysosomes, while Niemann-Pick types A and B are acid sphingomyelinase deficiencies resulting from mutations in the gene coding for lysosomal sphingomyelinase. Current knowledge regarding abnormalities of cholesterol processing in cultured cells from NPC patients is reviewed. The wide spectrum of expression of the disease is outlined. Based on experience with more than 350 patients, the problems encountered in the author's laboratory in the diagnosis of patients are discussed, as well as the relatively poor correlation between clinical and biochemical phenotypes. Recent major developments are, furthermore, reviewed. Cell hybridization studies have established an intergenic heterogeneity within NPC, consisting of one major (90% of patients) and one minor complementation group. Both groups show a wide phenotypic heterogeneity. The major gene has been mapped to 18q11-12, while the minor gene has been excluded from this region of chromosome 18. The function of both genes is yet unknown.

Cells, Cultured↗
PubMedDate not supplied

[Automated information retrieval system of the trauma physician].

The traumatologist's automatic information retrieval system (TAIRS) is a package of programmes and a database, which are implemented on the basis of informational models of mechanical and thermal injuries of the locomotor apparatus and hyperreactive adaptation syndromes in posttraumatic emergencies. TAIRS envisages operation in the following areas: 1) topometameric classification of locomotor mechanical injuries and recommendations on their treatment; 2) tabular models of hyperreactive adaptation syndromes and ways of their correction in posttraumatic emergencies; 3) terminological and eponymic glossaries.

Adaptation, Physiological↗
PubMed1997

[A case of anti-basement membrane (BM) mediated disease presenting renal and pulmonary symptoms by divergent timing].

A case of 49-year-old man with anti-GBM antibody and who manifested pulmonary and renal symptoms at divergent times. Thirty-six years previously, renal disease with unneglectable degree of proteinuria was noticed. One month before admission, he was found by chance to have elevated serum creatine (Scr); 3.4 mg/dl. At admission, his Scr was 13.7 mg/dl and Hb 12.7 g/dl, TP 5.2 g/dl with 3+ proteinuria and no glucosuria. He was a heavy smoker and remained so while admitted. Renal biopsy presented fibrocellular crescents in 100% of glomeruli with striking tubulointerstitial involvement. Immunofluorescence showed linear IgG deposition along the glomerular capillary wall. Hemodialysis was instituted, and after 13 hospital days, anti-GBM antibody at admission was high at 128 U, with negative PANCA. Plasmapheresis was also performed, but on the next day pulmonary hemorrhage occurred with a concomitant rise of anti-GBM to 250 U. Thus, steroid pulse therapy was conducted in combination with plasmapheresis. Pulmonary hemorrhage subsided along with lowering of anti-GBM (48 U), but renal failure persisted. The patient died of septicemia. Based on the clinical course of the case, the term "anti-BM mediated disease" may more properly delineate the entity of the disease rather than the classical eponym "Goodpasture's disease" which requires coexistence of pulmo- and renal manifestations for definition.

Anti-Glomerular Basement Membrane Disease↗
PubMed1997

[Posthumous nomination for Medicine Nobel Prizes. I. The Romantic Era (1800-1848)].

In the centennial of Alfred Nobel's death, the author proposes the nomination of great physicians of XIX century for a posthumous Medicine Nobel Prize. The valorization given by medical historians such as Garrison, Lavastine, Castiglioni, Lain Entralgo and Guerra, was used to select the best candidates. One to three names were assigned per year, from 1800 to 1848. Four categories of "Romantic Nobel Prizes" are assigned: a) Founders of basic disciplines (anatomy, chemistry, physiology etc); b) Masters of clinical and surgical medicine, pathology and specialties; c) Discoverers of transcendental diseases that are eponyms and d) Other great inventors or discoverers. A total of 66 nominees for the Nobel Prize, equally distributed between French, German and English physician, are presented. The omissions and limitation of this proposals are discussed.

Europe↗
PubMed1997

[Posthumous nomination for Medicine Nobel Prizes II. The positivism era (1849-1899)].

The author proposes the nomination of great physicians of the second half of the XIX century for a posthumous Medicine Nobel Prize. The valorization given by medical historians Garrison, Lavastine, Castiglioni, Lain Entralgo and Guerra, is used to select the better candidates. One to three names are assigned by year from 1849 to 1899. Four categories of Nobel prizes are assigned: a) Basic biological disciplines, b) Clinical and surgical medicine, pathology and specialties, c) Discoverers of transcendental diseases that are eponyms and d) New medical technologies. A total of 84 nominees for the Nobel Prize are presented. These lists are presented as preliminary and tentative to allow an extensive debate about the history of medicine during the nineteenth century.

History, 19th Century↗
PubMed1998

[Juvenile neuronal ceroid lipofuscinosis].

Neuronal ceroid-lipofuscinosis is a group of neurodegenerative diseases which are characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The diseases can be differentiated into several subgroups according to age of onset, the clinical picture, neurophysiological and neuropathological abnormalities and ultrastructural studies documenting different profiles of the lipopigment. Several eponyms have been used in the designation of the diseases. Latest, an international designation abbreviated CLN has been recommended, with the addition of figures according to the subtypes. The most common type in Denmark is CLN3, also called Spielmeyer-Vogt's disease. The incidence is 1.6 per 100,000. It is characterized by slowly progressing behavioral and visual symptoms that start when the child is about four to nine years old. During the second decade of life, the disease is accompanied by seizures and severe psychomotor deterioration. Most patients die before the age of 30 years. Recently, it has been shown that this type of CLN disease is due to a mutation in a gene located on chromosome 16 (16p 12.1). A brief description of the other subtypes of CLN is given.

Adolescent↗