1/7. genetic variation of lysosomal acid lipase.Lysosomal acid lipase (LAL) activity was measured using a new fluorometric assay in cultured skin fibroblasts from eight control subjects, two obligate heterozygotes for Wolman's disease (WD), one patient with WD, and one patient with cholesteryl ester storage disease (CESD). The LAL activities (mean /-SD) were 25.8 /-8.2, 13.2 /-0.1,1.1, and 1.4 nmol 4-methylumbelliferyl oleate (4-MUO) hydrolyzed/min/mg protein, respectively. These results compare favorably with those obtained using standard radioassays. The LAL activities of two cultures of amniotic fluid cells were 12.1 and 10.5. The LAL activity (mean /-SD) of peripheral leukocytes obtained from 34 laboratory volunteers (19 females, 15 males) was 4.0 /-1.8. Partially purified lymphocytes contained about 25 times as much LAL activity as did granulocytes. Cellogel electrophoresis, followed by staining with 4-MUO, showed at least two bands of LAL (A and B) from normal fibroblasts, amniotic fluid cells, and lymphocytes. Band A was absent from WD and CESD fibroblasts and was reduced in fibroblasts of the WD heterozygotes.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/7. Cardiopulmonary complications in multicentric reticulohistiocytosis. Report of a case.Multicentric reticulohistiocytosis (MR) is a rare disease. Only recently was its systemic nature appreciated. It affects the skin, mucous membranes, joints, muscles, tendon sheaths, synovial membranes, bones, liver, kidney, lymph nodes, heart, and lungs. Our patient, a 50-year-old woman, had life-threatening cardiopulmonary complications of MR. The connection between the skin lesions, the arthritis, and the pathologic changes in the heart and lungs is still obscure.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/7. Ovarian insufficiency in congenital lipoid adrenal hyperplasia begins in infancy.The aim of the present study was to investigate ovarian function in a 46,XX female patient with congenital lipoid adrenal hyperplasia (lipoid CAH) during infancy and childhood. We measured serum gonadotropin and estradiol levels regularly from 6 months to 10.9 years of age. serum FSH levels were clearly elevated during the first 2 years of life; they decreased gradually until the age of 5 years and they then fell into the normal range for a prepubertal female. serum LH levels were elevated until the age of 2 years and they then fell into the normal range. serum estradiol levels were always in the normal prepubertal range. Pelvic ultrasonography performed at the age of 9 months and at 9.8 years of age showed normal uterine and ovarian morphology for a prepubertal female. In conclusion, our data suggest that ovarian insufficiency in lipoid CAH begins in infancy.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/7. Progressive nodular histiocytoma.Extensive evaluation of the condition of a 9-year-old girl with a previously undescribed proliferative histocytic syndrome showed normal serum and tissue lipid values, which rule out the known lipid storage diseases. Clinically and histologically the case is inconsistent with any of the recognized xanthomatoses or histiocytic abnormalities.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/7. Ceroidosis in the "brown bowel syndrome".A middle-aged patient with "brown bowel syndrome" or gastrointestinal ceroidosis manifested as malabsorption of undetermined cause is described. autopsy revealed involvement of the entire gastrointestinal tract and unusual cardiac findings. Microscopically, the pigment responsible for the discoloration is a lipofuchsin that is deposited in the smooth muscle cells of the gastrointestinal tract. In all reported cases, ceroidosis was associated with some abnormality of the gastrointestinal tract--that is, malabsorption, steatorrhea, or gross local disease--with the possible exception of prolonged malnutrition. This case is also unusual because of the unexplained multifocal proliferative endocarditis. vitamin e deficiency may be the common denominator of all these various disorders.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
6/7. A clinical study of 44 patients with juvenile amaurotic family idiocy.The material presented comprises 44 patients with juvenile amaurotic family idiocy. The disease is distinguished from other types of gangliosidoses, and earlier clinical descriptions are reviewed. The median age of the patients at the onset of the diseases was 5.8 years and median duration of life was 18.8 years. It appears probable that the disease takes two different courses. Besides the earlier described accompanying phenomena, dystonic attack with oculogyre crises have been found in some patients, as well as extreme cases of bradycardia. In 77% of the patients psychotic manifestations have been found, chiefly in the form of frightening visual hallucinations. The pathogenesis and clinical observations of the psychoses are discussed and environmental factors are pointed out as contributing to the pathogenesis of the psychoses.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/7. adult neurovisceral lipidosis compatible with Niemann-Pick disease type C.The authors present a case of neurovisceral storage disease with the whole of its clinical course confined to adult life (symptoms from 26 to 46 years of age) and marked by mainly neurological symptomatology with dystonia, vertical supranuclear ophthalmoplegia and progressive mental deterioration as the dominant features. From the results of postmortem structural histochemical and chemical analysis the case was diagnosed as Niemann-Pick disease type C. This case, together with sporadic observations reported by other authors, represents a significant shift in our view of the incidence of NPD type C in older age groups.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |