Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 12-year-old boy was referred because of abdominal pain, gross hematuria, and passage of stones. Further evaluation showed growth delay, low average range of intellectual functioning, and a speech articulation disorder. No signs of self-mutilation or self-injurious behavior were present. He had hyperuricemia, hyperuricosuria, uric acid crystalluria, uric acid calculi, macrocytosis, megaloblastic bone marrow changes, and mild anemia. Hypoxanthine phosphoribosyltransferase (HPRT) enzyme activity was reduced to approximately 26% of normal. Polymerase chain reaction-single strand conformational polymorphism analysis of the HPRT gene in DNA isolated from the patient's blood lymphocytes revealed a single nucleotide substitution at codon 200 in exon 8. The base change was a guanine to cytosine transversion, resulting in the conservative amino acid substitution of threonine in place of arginine. To our knowledge, this mutation has not previously been reported.
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PMID:A new point mutation in a hypoxanthine phosphoribosyltransferase-deficient patient. 932 99

A 41-year-old woman had a 2-week history of low-grade fever, associated with gradually increasing abdominal pain and girth. Ultrasonography showed a complex cystic right adnexal mass. Diffuse nodules (0.1 to 0.5 cm) were found at exploratory laparotomy involving the serosal surfaces of the uterus, fallopian tubes, and ovaries. She had a total abdominal hysterectomy, with bilateral salpingo-oophorectomy and omentectomy for presumed stage IIIC ovarian carcinoma. Histopathologic examination showed chronic granulomatous inflammation with no evidence of neoplasm. Special stains on tissue sections and ascitic fluid were negative for fungi and mycobacteria. Additional history indicated a recently positive PPD skin test (within 6 months), followed by isoniazid therapy for 4 months. Polymerase chain reaction (PCR) done on paraffin-embedded tissues produced evidence of Mycobacterium tuberculosis. Ascitic fluid cultures became positive for M. tuberculosis at 6 weeks. The patient was placed on four-drug antituberculous therapy and had a complete recovery.
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PMID:Disseminated peritoneal tuberculosis mimicking metastatic ovarian cancer. 1181 62

Multiple lymphomatous polyposis is an unusual form of non-Hodgkin's lymphoma characterised by myriad polyps throughout the alimentary tract. Most multiple lymphomatous polyposis cases are derived from B-cell, and there has been little information on multiple lymphomatous polyposis of T-cell origin. A 67-year-old Japanese man presented with lower abdominal pain and diarrhoea of 4-week duration. Colonoscopy revealed numerous small umbilicated polyps and several raised erosions in the colorectum. Biopsy specimens showed diffuse proliferation of lymphoma cells negative for B-cell markers but positive for T-cell markers. Polymerase chain reaction using extracted chromosomal deoxyribonucleic acid from paraffin-embedded samples identified T-cell receptor gamma and delta gene recombination. The patient was treated with combined chemotherapy, leading to complete resolution of the lesions.
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PMID:Multiple lymphomatous polyposis of the colon originating from T-cells: a case report. 1504 93

A 64-year-old man with treated hypothyroidism had 10 months of diarrhea, abdominal pain, anorexia and recent involuntary 13.6 kg weight loss. He presented to hospital with an acute abdomen that had a radiological correlate of free air under the diaphragm. He was diagnosed with a perforated mid-jejunum due to an ulcerated enteropathy-type T cell lymphoma (ETL), complicating collagenous sprue and cryptic celiac disease. Polymerase chain reaction verified monoclonal gamma- and beta-T cell receptor gene rearrangements in the neoplasm. He had a complete resolution of symptoms when treated with a gluten-free diet in the postoperative period. This is apparently the first report describing collagenous sprue and ETL as synchronous lesions. Because atypical CD8+ lymphocytes are in both the collagenous sprue epithelium and ETL, the implication is that collagenous sprue is a noninvasive component of the ETL.
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PMID:Synchronous collagenous sprue and enteropathy-type T cell lymphoma: variants of the same disease. 1515 84

Patients with immunodeficiency or treatment-related immunosuppression are at an increased risk of developing severe herpes simplex virus (HSV) infection. We present a fatal case of a generalized HSV-1 infection in a 22-year-old female afflicted by acute lymphoblastic leukemia who was treated with polychemotherapy. The terminal clinical course was characterized by abdominal pain, progressive hepatic failure, and disseminated intravascular coagulation. Autopsy revealed non-perioral herpetic skin lesions and mucosal ulceration of the esophagus and colon. Punctuated areas of yellow-tan necrosis with hyperemic rims were detected in the liver, spleen, and lung. Numerous petechiae were observed on the mucosal surface of the esophagus, jejunum, ileum, and colon. Microscopically, lesions demonstrated the cellular changes characteristic of herpetic infection. Immunohistochemistry for identification of the virus using monoclonal antibodies against HSV-1 and HSV-2 showed positive staining for HSV-1. Polymerase chain reaction and sequencing confirmed HSV-1 positivity. Emphasis must be placed on clinical awareness of a generalized HSV infection in immunocompromised patients. Absence of orofacial or genital lesions does not rule out the possibility of active HSV infection.
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PMID:Generalized herpes simplex virus infection in an immunocompromised patient--report of a case and review of the literature. 1590 Nov 33

Whipple's disease is an uncommon, multisystem disease that typically strikes middle-aged men causing abdominal pain, arthralgia and malabsorption. The characteristic patholological finding is infiltration of the small intestinal mucosa and accompanying lymph nodes with PAS positive macrophages. Similar histological findings can be found in other involved organs. Tropheryma whippleii, the causative organism, usually responds to antibiotic therapy. Polymerase chain reaction is used to confirm the diagnosis. This report summarizes, arguably, Connecticut's first documented case 50 years ago, and the saga of establishing its diagnosis and the subsequent attempt to publish it.
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PMID:Whipple's disease redux. 1740 46

A total of 140 out of 180 outpatients attended MISR University for Science and Technology Hospital complained of abdominal pain, diarrhoea and/or dysentery. Stool examination showed 47 (33.6%) had Entamoeba sp., 36 (25.7%) had cysts and 11 (7.9%) had trophozoites. Of 40 asymptomatic ones, 4 (10%) had cysts. A total of 51 positive stool samples for Entamoeba sp. (40 cysts & 11 trophozoites) were tested by Ne-sted Polymerase Chain Reaction (N-PCR) and Restriction Enzyme Digestion (RED) to clarify true E. histolytica from E. dispar. The results showed that 9/51 (17.6%) had E. dispar, while 31 (60.8%) had E. histolytica and 11 (21.6%) had dual infection with both E. histolytica and E. dispar. All E. histolytica PCR proved cases were from the symptomatic group, 11 had trophozoites and 34 had cysts. Thus, the result showed the potential use of molecular tools in detection of E. histolytica and E. dispar, and is a promising tool for epidemiology, particularly to differentiate pathogenic and non pathogenic Entamoeba sp.
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PMID:Detection and differentiation of Entamoeba histolytica and Entamoeba dispar isolates in clinical samples by PCR. 1758 May 82

Endometriosis is the presence of endometrial cells and stroma at ectopic sites outside the uterine cavity. The natural history of endometriosis is uncertain, its etiology unknown, the clinical presentation inconsistent, diagnosis difficult and the treatment poorly standardized. It causes significant morbidity due to pelvic pain and infertility among 15-25% of women during their reproductive age. The benign disease causes peritoneal inflammation, fibrosis, adhesions and ovarian cysts but displays features of malignancy, like neo-vascularization, local invasion and distant metastasis. Mechanical, hormonal, immunological, environmental and genetic factors have been implicated in its etiology but provide inconclusive explanations. Present study was carried out on ectopic and eutopic endometriotic tissue specimens collected during laproscopy/laprotomy from cases of endometriosis. mRNA was isolated from the tissues and converted to cDNA by RT and subsequently subjected to differential display Polymerase Chain Reaction using seven sets of arbitrary primers. A unique band was identified only in the ectopic endometriotic tissue, which was sequenced. BLAST search results revealed sequence homology to shigella bacterial DNA leading us to hypothesize that infection may be playing a role in the etiology of endometriosis. This is the first report implicating the role of bacterial infection in the etiology of endometriosis. Shigella is known to invade the mucosa of the colon through the feco-oral route causing Shigellosis. The pathogenesis of shigellosis involves inflammation, ulceration, haemorrhage, tissue destruction and fibrosis of the colonic mucosa resulting in abdominal pain and diarrhoea/dysentery, this is similar to the pathogenesis of endometriosis which also involves inflammation, haemorrhage, tissue destruction and fibrotic adhesions of the pelvic peritoneum resulting in abdominal pain and infertility. The non-motile shigella bacteria invade the deeper mucosal layers by travelling from cell to cell of colonic epithelium, reaching the lamina propria of the colonic mucosa. We propose that, by the same mechanism, the bacteria travel across the colon wall to reach the outer peritoneal surface of the colon, which is in close proximity to the posterior uterine surface in the Pouch of Douglas, the site which incidentally happens to be the commonest site of early endometriosis. Our hypothesis therefore proposes that shigella or shigella-like organisms may be the trigger for the initiation of immunological changes in the pelvic peritoneum causing endometriosis. Once the endometrial cells are implanted at ectopic sites they are sustained by hormones and angiogenic factors. Hence "Infection hypothesis" provides a novel explanation for the etiopathogenesis of endometriosis.
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PMID:Role of Shigella infection in endometriosis: a novel hypothesis. 1788 83

Helicobacter pylori (H. pylori) has been found in the upper gastrointestinal tract. It is incriminated as aetiological factor in various pathological conditions. This study was designed to determine whether H. pylori plays a role in the pathogenesis of acute appendicitis. H.pylori was investigated in 40 patients divided in 2 groups. A: patients with abdominal pain and B: patients with acute appendicitis, confirmed by pathology studies. The Ag H.pylori was investigated in the faeces of both groups. In the group B, besides, appendix samples were tested for culture for H. pylori. Confirmation was made by PCR (Polymerase Chain Reaction) analysis. Statistical analysis was made. The positivity for H. pylori infection in the faeces was found in Group A in 15% of the patients and in the group B in 35%. In the group B, besides, the culture of the appendix cecal was positive in 71.4%. Though was observed difference between both groups, this one was not significant. It seems that H. pylori colonizes the appendix in small proportion and is unlikely to be associated in direct correlation with acute appendicitis. However, seropositive patients with acute inflammation are likely to suffer from purulent o gangrenous form.
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PMID:[Role of the Helicobacter pylori in the aetiology of acute appendicitis. Preliminary studies]. 1801 43

Vascular endothelial growth factor (VEGF) is a cytokine that promotes endothelial cell proliferation, leucocyte chemotaxis and expression of adhesion molecules and is a major mediator of vascular permeability. It has been demonstrated that VEGF directly activates neutrophils and it could promote acute recruitment of leucocytes. It is known that neutrophils are the major cell population involved in acute inflammation in familial Mediterranean fever (FMF) and the role of VEGF in these cells may be crucial. The aim of this study was to investigate whether the 936 C/T functional polymorphism of the VEGF gene is associated with susceptibility to FMF and its relationship with the main clinical features of the disease. Polymerase chain reaction-restriction fragment length polymorphism technique was used to determine 936 C/T polymorphism within the VEGF gene in 75 patients with FMF and 122 non-related healthy controls. Genotype and allele frequencies of the VEGF 936 C/T polymorphism between patients with FMF and healthy control groups were not significantly different (OR = 0.74, 95% CI = 0.40-1.37, P = 0.335 for CT genotype; OR = 1.11, 95% CI = 0.67-1.83, P = 0.700, for T allele). Although VEGF 936 TT genotype was found to be more frequent in patients with FMF than in healthy controls (6.7% vs. 1.6%, respectively), the difference was not significant (OR = 4.28, 95% CI = 0.81-22.67, P = 0.108). No associations were found between the studied polymorphism and either the clinical features such as arthritis, abdominal pain, pleuritis, myalgia, arthralgia and erysipelas-like erythema of the disease or the four common studied exon 10 mutations (M694V, M680I, V726A, M694I) of the Mediterranean fever gene. Present results suggest that VEGF gene 936 C/T polymorphism does not seem to be associated with susceptibility to FMF and its clinical manifestations.
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PMID:Analysis of vascular endothelial growth factor gene 936 C/T polymorphism in patients with familial Mediterranean fever. 1818 98


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