Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0232487 (abdominal discomfort)
1,724 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Worsening of long-lasting diarrhea, abdominal discomfort and weight loss were main symptoms in a 27-year-old Moroccan woman who had lived in Germany for 18 years. Pseudomonas, salmonella and lamblia cysts were found in stools. Histological examination of the gastrointestinal tract showed immunoproliferative small intestinal disease (IPSID), characterized by atrophy of the villi and lymphoplasmocytic infiltrates. alpha 1-heavy chains were found immunohistologically in the biopsy specimen, but not in serum, urine or jejunal juice. HLA-typing gave evidence of A9. Antibiotic treatment was successful for almost one year. Clinical, histological and immunological diagnosis of IPSID in an African woman living for nearly 20 years in Europe shows that, besides environmental factors, genetic disposition is an essential factor in the development of IPSID.
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PMID:[Immunoproliferative small intestinal disease (IPSID): an unusual form of gastrointestinal lymphoma]. 805 27

We present a case with sustained complete molecular response (CMR) after cessation of two months of imatinib mesylate (IM) treatment for chronic myelogenous leukemia (CML) relapsed after allogeneic stem cell transplantation (Allo-SCT). A 30-year-old previously healthy woman was seen in a clinic because of left abdominal discomfort. Splenomegaly and increased leukocytes with Philadelphia chromosome led to the diagnosis of CML in the accelerated phase. She received four months of IM treatment followed by allo-SCT from her HLA-matched sibling. She achieved and maintained CMR without developing acute GVHD for six months, when hematologic relapse occurred. While reducing the immunosuppressant, she received IM; however, it was discontinued two months later due to myelosuppression. Even after the termination of IM, the positivity of chimeric BCR-ABL gene detected by FISH analysis in peripheral blood continued to decrease. The molecular analysis of bone marrow one year after allo-PBSCT revealed CMR lasting for more than two years after cessation of IM. IM may possibly enhance the graft-versus-leukemia effects by reducing tumor burden in cases relapsed after allo-SCT.
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PMID:[Sustained complete molecular remission after cessation of imatinib mesylate treatment in a patient with relapsed chronic myelogenous leukemia after allogeneic stem cell transplantation]. 2245 May 81

At an incidence of 1:500, celiac disease (formerly sprue) is an important differential diagnosis in patients with malabsorption, abdominal discomfort, diarrhea and food intolerances. Celiac disease can induce a broad spectrum of both gastrointestinal and extraintestinal symptoms, e.g. dermatitis herpetiformis (Duhring's disease). A variety of oligo- and asymptomatic courses (e.g. anemia, osteoporosis, depression) through to refractory collagenic celiac disease are seen. In HLA-DQ2 and -8 predisposed individuals, celiac disease is provoked by contact with wheat gliadin fractions through a predominantly Th1 immune response and an accompanying Th2 response, which can eventually lead to villous atrophy. Using appropriate serological tests (IgA antibodies against tissue-transglutaminase, endomysium and deamidated gliadin peptides) under sufficient gluten ingestion, the diagnosis can be made more reliably today than previously. The same IgG-based serological tests should be used in the case of IgA deficiency. Diagnosis can either be made in children and adolescents with anti-transglutaminase titers exceeding ten times the standard for two of the above-mentioned serological markers and HLA conformity or it is made by endoscopy and histological Marsh classification in adults and in cases of inconclusive serology. If clinically tolerated, gluten challenges are indicated in patients that already have reduced gluten intake, in borderline serological results, discordance between serological and histological results or in suspected food allergy. The diagnosis of celiac disease needs to be definitive and robust before establishing a gluten-free diet, since lifelong abstention from gluten (gliadin < 20 mg/kg foodstuffs), cereal products (wheat, rye, barley and spelt) as well as from preparations and beverages containing gluten, is necessary. With effective elimination of gluten, the prognosis regarding complete resolution of small bowel inflammation is good. Refractory courses are seen only in rare cases, accompanied by enteropathy-associated T-cell lymphoma.
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PMID:Modern diagnosis of celiac disease and relevant differential diagnoses in the case of cereal intolerance. 2612 May 17

Drug-induced liver injury (DILI) to flucloxacillin is rare and is classified as idiosyncratic, as it is dependent on individual susceptibility, unpredictable, and dose-independent. The authors present the case of a 74 - year - old man with a history of monoclonal gammopathy under investigation and alcoholic habits of 24 g/day, with asthenia, anorexia, nausea, abdominal discomfort, and fever with three days of evolution. He was treated with two courses of antibiotic therapy with flucloxacillin to erysipelas previously (3 months and 2 weeks before admission). Lab tests showed serum AST levels of 349 U/L, ALT 646 U/L, alkaline phosphatase 302 U/L, GGT 652 U/L, total bilirubin 3.3 mg/dL and direct bilirubin 2.72 mg/dL. Infectious, autoimmune, and metabolic causes were ruled out. Magnetic resonance cholangiopancreatography showed normal results. Liver biopsy showed mild multifocal (predominantly microvesicular) steatosis; marked changes in the centrilobular areas (sinusoidal dilatation, marked congestion, hemorrhage, and multifocal hepatocyte collapse); expansion of the portal areas with the formation of bridges; proliferated bile ducts and inflammatory infiltrate of variable density, predominantly mononuclear type. The HLA-B*5701 screening test was positive. Hepatic biochemical tests remain abnormal with a significative increase in total bilirubin, which reached levels of 24.1 mg/dL, with the development of jaundice, pruritus, and choluria. DILI was assumed, and the patient was treated with ursodeoxycholic acid. There was favorable evolution, without evidence of blood coagulation dysfunction or encephalopathy. The analytic normalization was, however, slow, with evolution to chronicity. The authors present this case to remind the possibility of moderate/severe drug-induced liver injury to flucloxacillin, an antibiotic commonly used in clinical practice and association with the HLA-B * 5701 allele reported in the literature.
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PMID:Flucloxacillin-Induced Hepatotoxicity - Association with HLA-B*5701. 3213 Mar 75