1/12. Sclerosing hyaline necrosis of the liver in bloom syndrome.bloom syndrome is a rare autosomal recessive disorder characterized by normally proportioned but strikingly small body size, a characteristic facies and photosensitive facial skin lesion, immunodeficiency, and a marked predisposition to development of a variety of cancers. We describe here, we believe for the first time, pronounced sclerosing hyaline necrosis with mallory bodies in the liver of a patient with bloom syndrome. mallory bodies are cytoplasmic eosinophilic inclusions, which are more common in visibly damaged, swollen hepatocytes in various liver diseases but are never found in normal liver. The possible pathogenesis of this finding in bloom syndrome is discussed.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/12. Ulcerative colitis complicated by dysplasia-adenoma-carcinoma in a man with Bloom's syndrome.Bloom's syndrome (BS) is a rare genetic disorder in which the major clinical feature is growth deficiency. The genome in BS somatic cells is unstable, and hypermutability explains many clinical features. Most notably, affected persons are at enormously increased risk of developing many types of cancers at different sites. It has been well known that ulcerative colitis (UC) is associated with the spectrum of epithelial changes signifying dysplasia and the progression to frank carcinoma. We report here a case of UC complicated by dysplasia-adenoma-carcinoma sequence in a 37-year-old man with BS.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
3/12. Immunohistochemical expression and pathogenesis of BLM in the human brain and visceral organs.bloom syndrome (BS) involves the clinical features of telangiectatic erythema, immunodeficiency, and an increased risk for cancer. In order to clarify the pathogenetic significance of the responsible gene, BLM, which encodes a protein possessing homology to escherichia coli RecQ helicase, the immunohistochemistry of BLM was examined in human brains and visceral organs from fetuses to adults and an adult with BS, using anti-BLM antibodies. purkinje cells exhibited positive BLM immunoreactivity from 21 gestational weeks (GW), which transiently increased at approximately 40 GW. neurons of the pontine tegmentum were immunolabeled from the early fetal period. In visceral organs, positive BLM immunoreactivity was observed in the Hassal corpuscles in the thymus from 24 GW, in beta-cells in the Langerhans islets of the pancreas from 36 GW, and in sperm cells and sperms of the testes from 11 years of age. But in a patient with BS, it was negative in the pancreas and testis tissues examined. The characteristic effect of BLM on specific cells in different periods suggests that the BLM gene product is closely related to neuronal development as well as immune, insulin secretory and sperm functions, which appear in different periods, and disorders of which are major symptoms of BS.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/12. Numerous colonic adenomas in an individual with Bloom's syndrome.Bloom's syndrome (BS) is a rare recessive disorder caused by germline mutation of the BLM gene. Individuals with BS manifest growth retardation, immunodeficiency, and a predisposition to cancer. In this report, we describe an individual with BS and multiple colonic adenomas reminiscent of familial adenomatous polyposis coli (FAP). Molecular studies revealed APC mutations in 4 of 6 adenomas, including 2 adenomas with the identical APC mutation and microsatellite instability in 1 of 6 adenomas. These results demonstrate similar pathways to colorectal neoplasia in BS as in the normal population and suggest that individuals with BS may be particularly susceptible to colorectal neoplasia.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
5/12. bloom syndrome in sibs: first reports of hepatocellular carcinoma and wilms tumor with documented anaplasia and nephrogenic rests.The triad of small body size, immunodeficiency, and sun-sensitive facial erythema characterizes the phenotype bloom syndrome (BS), a rare autosomal recessive disorder with a striking predisposition to multiple types of cancers that arise earlier than expected in the general population. Here we report two sibs with BS. The older, a 15-year-old-girl, developed a hepatocellular carcinoma, a neoplasm not yet reported in association with BS. Her younger brother developed an anaplastic wilms tumor (WT) associated with nephrogenic rests at the age of 31/2 years, and this was followed by a myelodysplastic syndrome. Complex cytogenetic abnormalities were identified in all three neoplasms. These examples expand the spectrum of malignancies occurring in BS to include liver cell neoplasms, and confirm the association of nephrogenic rests with WT, even in the setting of BS.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
6/12. Evidence for abnormally regulated alternative rna processing of mu chain gene in B-lymphoblastoid cells from Bloom's syndrome.Selective IgM deficiency is commonly found in patients with Bloom's syndrome. In this study, mu mRNA synthesis was investigated in B-lymphoblastoid cells transformed by Epstein-Barr virus (LCL) from a patient with Bloom's syndrome who showed selective IgM deficiency. LCL established from the patient with Bloom's syndrome well expressed IgM molecules in their surface, but scarcely produced secreted IgM, compared with healthy controls. The JH hybridization patterns of digested DNA of LCL from the patient with Bloom's syndrome showed the rearrangement of VDJ as well as those of control LCLs. The mu mRNA was well detected, but mu s C-terminal mRNA was poorly detected compared with control LCLs, indicating that secreted mu mRNA was poorly transcribed though membrane-bound mu mRNA was well transcribed. These results suggest that alternative rna processing of mu chain gene is abnormally regulated in LCL from patients with Bloom's syndrome.- - - - - - - - - - ranking = 2keywords = deficiency (Clic here for more details about this article) |
7/12. Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.Two missense mutations occurring in different alleles of the DNA ligase I gene, encoding the major DNA ligase in proliferating mammalian cells, were detected in a human fibroblast strain (46BR). These cells exhibit retarded joining of Okazaki fragments during dna replication and hypersensitivity to a variety of DNA-damaging agents. 46BR was derived from a patient who displayed symptoms of immunodeficiency, stunted growth, and sun sensitivity. A strongly reduced ability of DNA ligase I to form a labeled enzyme-adenylate intermediate correlated with the genetic defect in 46BR cells. The data indicate that human DNA ligase I is required for joining of Okazaki fragments during lagging-strand DNA synthesis and the completion of DNA excision repair.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
8/12. Long-term study of the immunodeficiency of Bloom's syndrome.The immune state was evaluated over a 10-year period in two individuals with Bloom's syndrome. In both patients, serum concentrations of IgM were markedly low. Mildly decreased serum concentrations of IgG and IgA increased significantly with age, whereas the IgM levels remained low. From assessments of B-cell and T-cell functions in pokeweed mitogen-induced immunoglobulin production, the IgM deficiencies were thought to result from B-cell dysfunction. T-cell function appeared intact. Moreover, although the percentages of surface IgM-bearing cells were not reduced, the numbers of IgM-secreting cells were reduced. These findings suggest that the IgM deficiency is due to an abnormality in the maturation of surface IgM-bearing B cells into IgM-secreting cells.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
9/12. Hereditary lecithin-cholesterol acyltransferase deficiency. Report of 2 new cases and review of the literature.Two new cases of hereditary lecithin-cholesterol acyltransferase (LCAT) deficiency in a brother and sister born to consanguinous parents are reported. Both have corneal opacity, splenomegaly and mild hemolytic anemia. The brother, the older of the 2, also has significant proteinuria. The literature dealing with reported cases of hereditary LCAT deficiency and the clinical, pathological, diagnostic and management aspects of the disorder are reviewed.- - - - - - - - - - ranking = 218594.49145134keywords = acyltransferase deficiency, acyltransferase, deficiency (Clic here for more details about this article) |
10/12. Hereditary lecithin-cholesterol acyltransferase deficiency and bloom syndrome in the same individual.A couple who were first cousins had three children: an older son with bloom syndrome (BLS) and homozygous lecithin-cholesterol acyltransferase (LCAT) deficiency; the second child (a son) and the parents are LCAT deficiency and the youngest child (a daughter), is homozygous for LCAT deficiency. The use of genetic markers gave no evidence of linkage of BLS and LCAT loci.- - - - - - - - - - ranking = 218595.49145134keywords = acyltransferase deficiency, acyltransferase, deficiency (Clic here for more details about this article) |
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