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)

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is an autoinflammatory disorder associated to a mutation of the Tumor Necrosis Factor Receptor 1 (TNFR1) whose clinical presentation consists on recurrent episodes of prolonged fever, abdominal pain, myalgias, migratory cutaneous erythema, conjunctivitis or periorbitary edema. The diagnosis is confirmed by genetic analysis of the TNFR1 gene. Its main complication is amyloidosis and the treatment is based on the use of corticosteroids or anti-TNF antibodies. We report a 17 year-old male and 23 year-old female with the syndrome. Both cases had heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case.
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PMID:[Tumor necrosis factor receptor associated periodic syndrome (TRAPS). Report of two cases]. 1727 73

We report two rare cases complicated by gastrointestinal mucosal disorders, including peptic ulcer and ischemic colitis. Anaphylaxis was induced by cefaclor in case 1 and by pranoprofen in case 2. These two patients developed epigastric or lower abdominal pain about 10 hours after the onset of anaphylaxis. Gastroduodenoscopy revealed severe ulcers in the stomach or duodenum, while colonoscopy detected mucosal edema, erythema, and erosions, leading to the diagnosis of ischemic colitis. It is important to keep in mind that gastrointestinal mucosal lesions can occur, albeit on rare occasions, in patients with anaphylaxis.
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PMID:Gastrointestinal disorders in anaphylaxis. 1738 1

A 72-year-old man was hospitalized for exacerbation of chronic obstructive pulmonary disease and was treated with oral prednisone and 7 days of moxifloxacin. Five days after completing the antibiotic course, he developed watery diarrhea and diffuse, crampy abdominal pain. On presentation he was afebrile, and abdominal examination revealed diffuse tenderness without peritoneal signs. Stool tested positive for Clostridium difficile toxin A by enzyme-linked immunosorbent assay. Despite starting oral metronidazole, the patient developed a fever of 101.2 degrees F 36 hours after his initial episode of diarrhea, 12 hours after admission. His abdominal pain intensified and became localized to the right and left lower quadrants. Computed tomography scan revealed both a thickened cecal wall and an edematous appendix with ileocecal stranding consistent with appendicitis. Appendectomy was performed, and the appendix was found to be suppurative in appearance and nonperforated. The cecum had mild edema and erythema, whereas the colon and rectum were grossly unaffected. Pathology examination revealed exudative material in the appendiceal lumen and a diffuse transmural inflammatory cell infiltrate. The patient had an uneventful recovery and continued to improve on oral metronidazole. Although Clostridium difficile colitis and appendicitis are each very common independently, C. difficile as an etiology of appendicitis is exceedingly rare. A review of the literature revealed 2 prior cases. We speculate that this association is underdiagnosed, because milder cases might respond to antibiotic therapy alone, and severe cases might involve the entire colon and require total colectomy. In each scenario, the involvement of the appendix might be overlooked.
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PMID:Acute appendicitis in the setting of Clostridium difficile colitis: case report and review of the literature. 1767 42

Nabumetone is a nonsteroidal antiinflammatory (NSAID) prodrug that inhibits cyclooxygenase-2. It has been recommended as a safe alternative in most patients with hypersensitivity reactions to NSAIDs. Systemic reactions caused by nabumetone are not frequent. We report 2 cases of immediate systemic reactions due to nabumetone. The first case involved a 68-year-old woman who developed immediate generalized pruritus, erythema, morbilliform eruption, swollen tongue sensation, diarrhea, and hypotension after the ingestion of a single dose of nabumetone. In the second case, a 77-year-old woman developed generalized pruritus, palm erythema, colic abdominal pain, diarrhea, dizziness, tightness of the chest, dyspnea, and hypotension immediately after oral intake of nabumetone. Both patients had previously tolerated this drug. Since these episodes, they have avoided nabumetone. Skin prick tests with nabumetone (10 and 100 mg/mL) were negative. Oral challenge tests with other NSAIDs, even of the same group as nabumetone, were negative in both patients. The mechanisms responsible for the reaction were not established.
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PMID:Severe immediate reaction to nabumetone. 1769 3

We present the case of an 18-year-old woman with Crohn's disease manifested by diffuse abdominal pain, bloody diarrhea accompanied by arthralgia, and swelling of large joints. On the lateral aspect of her right ankle there was an hemorrhagic, necrotic bullous lesion measuring 3 x 4 cm, surrounded by cutaneous inflammation and erythema. Biopsy showed a neutrophilic abscess-like ulcerative skin inflammation, which was diagnosed as pyoderma gangrenosum. The patient was treated with high doses of parenteral methylprednisolone, but her condition failed to improve and infliximab, a TNF-alpha blocking agent, was instituted. An immediate response of Crohn's disease was observed and, over the next 5 weeks, the ulcer on her right ankle also healed completely.
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PMID:Infliximab for treatment of resistant pyoderma gangrenosum associated with Crohn's disease. 1798 10

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

An 88-year-old man from the Dominican Republic with a history of gastric adenocarcinoma was admitted with one month of fatigue, anorexia, weight loss, and abdominal pain. The dermatology department was consulted to evaluate an asymptomatic, shiny, firm, red nodule on the lower left chest, with an expanding rim of erythema. Skin biopsies were performed from the nodule and surrounding rim of erythema, which were both diagnostic of peripheral T-cell lymphoma (PTCL). This case is a unique example of PTCL with erysipelaslike spread.
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PMID:Peripheral T-cell lymphoma with erysipelaslike spread. 1830 45

The authors report seven cases of necrotizing skin and soft-tissue infections, with clinical presenting as hemorrhagic bullae, gangrenous cellulitis or necrotizing fasciitis, in association with septicemia, between January 2003 and January 2007 in Hat Yai Hospital. Six were male and the majority of the lesions, six cases, occurred in the lower extremities. The average age of the patients was 50.0 +/- 11.019 years old. All patients presented with watery diarrhea, severe abdominal pain, high fever and sepsis. The skin lesions were begun with erythema, tender and swelling with formation of hemorrhagic bullae, gangrene and necrosis within 24-48 hours. Three of them were caused by Streptococcus spp., another three by Halophilic Vibrios, and only one by Aeromonas hydrophila. Furthermore, the literatures related with clinical manifestations of necrotizing skin and soft-tissue infections, etiologic pathogens, histological finding, management in setting of sepsis, comorbid conditions, complications and patients' outcome were reviewed.
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PMID:Necrotizing skin and soft-tissue infections associated with septicemia: 7 cases report and review. 1838 55

A 21-year-old young girl presents with intense abdominal pain, nausea, diarrhea in the context of a cutaneous eruption formed by erythematous and papulous elements with brown violet aspect, very pruriginous, occasioned by the preparation of some fishmeal. Similar eruption debuted from childhood from the age of 4 year became rare with age. Since 3 years, the patient presents more intense digestive manifestation. The therapy with H2 antagonist (loratadine) and a mast cell stabilizer is beneficial over the digestive symptoms and in the same time cancel the pruritus and the erythema of the cutaneous lesions that remain hyperpigmented. The histopathological examination of a cutaneous lesion confirms the diagnosis of mastocytosis and the endoscopic examination discovers a duodenal ulcer and an erosive gastritis. The systemic mastocytosis is a rare disease, often associated with an urticaria pigmentosa, with difficult diagnosis in his absence. That's why, in patients with macular or nodular pigmented cutaneous lesions appeared in infancy and early childhood and which urticate in a characteristic manner when the skin is firmly rubbed, a cutaneous biopsy is necessary.
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PMID:Type Ib indolent mastocytosis with systemic involvement: cutaneous mastocytosis and gastrointestinal involvement at young girl. 1905 Aug 5

Ischemic colitis is the most common type of intestinal ischemia and has a clinical spectrum of injury that ranges from mild and transient ischemia to acute fulminant colitis. The aim of this study was to explore endoscopic findings and clinicopathologic characteristics of ischemic colitis and be accurate enough to avoid missed diagnosis or misdiagnosis. A retrospective analysis was undertaken of endoscopy findings and clinicopathologic characteristics of 85 cases of ischemic colitis from March 2005 to April 2008 in the endoscopy center of our hospital. All cases underwent colonoscopy with biopsy within 2 weeks of the onset of symptoms, and all specimens with forceps were stained with hematoxylin-eosin and observed under light microscopy. Of the 85 cases of ischemic colitis (24 men and 61 women, average age 61.36 +/- 14.49 years old, range 29-84), 71 were over 50 years of age. These cases were associated with the basal diseases such as hypertension, cardiovascular disorders, diabetes, and hematological diseases as well as a history of abdominal operation. The clinical features usually presented with sudden onset of abdominal pain, diarrhea, and hematochezia. Ischemic lesions were located mainly in the left colon with segmental form (only descending colon affected 16%, only splenic flexure 14%, and only sigmoid colon 23%). The 85 patients consisted of the non-gangrenous type (82), which were composed of reversible IC (76) and chronic IC (6), and the gangrenous type (3). Endoscopic appearance of the transient ischemic colitis consisted of petechial hemorrhages, edematous and fragile mucosa, segmental erythema, scattered erosion, longitudinal ulcerations, and sharply defined segment of involvement. Ischemic colitis of stricture was characterized by full-thickness mucosa, lumens stricture, and diseased haustrations. The mucosa of gangrenous colitis with cyanotic and pseudopolyps was endoscopically observed as well. Clinicopathologic characteristics showed mucosal inflammation accompanied by erosion, granulation tissue hyperplasia and gland atrophy, lamina propria hemorrhage, and macrophages with hemosiderin pigmentation in submucosa in particular. Although endoscopy findings and clinicopathologic characteristics of ischemic colitis are nonspecific, colonoscopy with biopsy plays a vital role in the early diagnosis of ischemic colitis.
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PMID:Endoscopic findings and clinicopathologic characteristics of ischemic colitis: a report of 85 cases. 1908 15


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