Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A pair of monozygotic twins discordant for the Wiedemann-Beckwith syndrome (WBS) associated with congenital central hypothyroidism is described. During pregnancy, the mother was noted to have marked polyhydramnios and severe abdominal distension. At birth, a large diamniotic, monochorionic placenta was noted. According to a study of the minor blood groups and HLA typing, the possibility of monozygosity is 0.985. The mode of inheritance of the syndrome is debatable, and according to observations of discordance in monozygotic twins, single gene control seems unlikely. The thyroid function was noted to be subnormal when the proband was 3 days old. Oral thyroxine has been supplied since infancy. Repair of the umbilical hernia, the bilateral inguinal hernia, and a bilateral orchidopexy were done. A partial glossectomy was later performed to prevent progressive orofacial maldevelopment. The postnatal gigantism persisted as he grew.
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PMID:Wiedemann-Beckwith syndrome with congenital central hypothyroidism in one of monozygotic twins. 197 21

The Inuit (Eskimo) gene pool is in many respects similar to that of East Asian populations. Some polymorphisms imply frequent occurrence of disorders comparatively rare in Western Europe (e.g. lactose and sucrose malabsorptions). Low frequencies of alleles for slow isoniazid acetylation and sparteine/debrisoquine oxidation indicate slow elimination of a multitude of drugs. Autoimmune disorders (e.g. rheumatoid arthritis, insulin dependent diabetes mellitus, Graves' disease and psoriasis) are rare, possibly explained by the associations of these disorders with HLA-alleles rare in Inuit (e.g. HLA-B8). Correspondingly high incidence of reactive arthritis may be explained by a frequent HLA-B27 allele. Prevalence of disorders due to instability of mesenchymal tissues (e.g. spondylolisthesis, osteoarthrosis, hernia, heart block) are still in want of a biochemical explanation. Attention is drawn to the urgency of genetic studies in the Arctic because of the accelerating hybridization of Inuit in all circumpolar areas.
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PMID:Genetic epidemiology of Greenland. 259 Mar 15

The Inuit (Eskimo) gene pool is in many respects similar to that of East Asian populations. Some polymorphisms imply frequent occurrence of disorders comparatively rare in Western Europe (e.g. lactose and sucrose malabsorptions). Low frequencies of alleles for slow isoniazid acetylation and sparteine/debrisoquine oxidation indicate slow elimination of a multitude of drugs. Autoimmune disorders (e.g. rheumatoid arthritis, insulin-dependent diabetes mellitus, Graves' disease and psoriasis) are rare, possibly explained by the associations of these disorders with HLA-alleles rare in the Inuit (e.g. HLA-B8). A correspondingly high incidence of reactive arthritis may be explained by a frequent HLA-B27 allele. The prevalence of disorders due to instability of mesenchymal tissues (e.g. spondylolisthesis, osteoarthrosis, hernia, heart block) still requires a biochemical explanation. Attention is drawn to the urgency of genetic studies in the Arctic because of the accelerating hybridization of the Inuit in all circumpolar areas.
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PMID:Genetic epidemiology of Greenland. 268 6

The results of a longterm study on 55 children are presented whose parents were treated by radiotherapy. Five or ten years after a first examination, these children were submitted to a check-up investigation of their physical and intellectual development. The group of twenty irradiated fathers received an average dose to the gonads of 0.55 Gy (0.01 to 6.4 Gy), the group of twenty irradiated mothers 0.72 Gy (0.01 to 8.0 Gy). In all parents the most frequent finding was Hodgkin's disease, which was diagnosed as a neoplasm in 23 cases. Chemotherapy was applied in two out of 40 patients. The proof of paternity was made with a 86% accuracy for ten out of twenty fathers by determination of HLA types. A conception was demonstrated beyond all doubt after a dose to the testicles of 1.2 Gy in the irradiated fathers and after a dose to the ovaries of 3.0 Gy in the irradiated mothers. The offspring of the F1 generation showed no modification in the sex ratio. In the primary examination, a rate of 5.5% of severe malformations was found (trisomy E, bradyacousia of the inner ear, cleft hands and feet). 24% of the children had malformations which needed a treatment (hernias, torticollis, hip dysplasia). 18 out of 55 children (33%) presented abnormalities in the widest sense of the word. Three children (5.5%) were premature infants, and there is a general tendency towards shortened pregnancy (-3.6 days). Hernias (7/55) are a frequent finding. In children of both sexes, carporadiography shows a delayed development which is not compensated in the check-up examinations at five or ten years, but does not cause an underdevelopment in body height as compared to great normal collectives. The results suggest a slightly increased malformation rate among children whose parents were treated by radiotherapy. Above all the connective and supporting tissue seems involved. Some proposals are made how to give a radiogenetic advice to tumor patients who want to have children.
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PMID:[Children of parents irradiated prior to conception--a longitudinal study (results, 1986)]. 320 81

Two cases of transient neonatal diabetes mellitus associated with anemia, macroglossia and umbilical hernia were studied in relation to the possible etiologies that have been postulated to be responsible for this syndrome. Both patients required insulin therapy for the control of their hyperglycemia but case number two needed to be treated for 14 months before glucose normalization occurred. This patient developed classical insulin dependent diabetes mellitus during our follow-up; the HLA typing showed DR4 allele.
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PMID:Two interesting cases of transient neonatal diabetes mellitus. 818 24

Graft-versus-host disease (GVHD) is a dreaded complication of bone marrow and solid organ transplantation. Commonly affected organs include skin, liver, and the gastrointestinal tract, with bone marrow and renal involvement occurring more rarely. GVHD is less commonly seen with solid organ transplants. Fewer than 100 cases of GVHD have been reported in the literature following liver transplantation. We report a case of a 53-year-old woman who required a multiorgan transplant after a complicated postoperative course following paraduodenal hernia repair. She developed isolated pancytopenia approximately 4 months after receiving an en bloc transplant involving the liver, kidney, small bowel, and pancreas. No evidence of skin, gastrointestinal, or hepatic involvement was discovered. HLA typing of the peripheral blood revealed that 28% of patient peripheral blood was composed of donor lymphocytes. Bone marrow biopsy showed a markedly hypocellular marrow with 23% donor lymphocytes and 80% of the T-cell population from the donor as well. The patient began treatment for GVHD, including high-dose steroids, basiliximab, and rituximab. Unfortunately, she developed overwhelming sepsis and subsequently died. This case describes an instance of GVHD manifested by isolated pancytopenia after en bloc transplantation of multiple solid organs. GVHD is a rare, but serious complication of solid organ transplantation that can result in death. Although isolated bone marrow involvement is uncommon, it must be considered early to avoid a delay in diagnosis. This case also highlights an association of GVHD with multiorgan transplants, although this is incompletely characterized in the current literature.
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PMID:Graft-versus-host disease presenting with pancytopenia after en bloc multiorgan transplantation: case report and literature review. 2000 17