Gene symbol: ATP7B. Disease: Wilson disease.
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Biomedical subjects
Publications and source records attributed to G Kurian.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
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We present three siblings (out of four) with intrahepatic cholestatic disease and cirrhosis. Two of the siblings, a 33-year-old woman and a 34-year-old man had advanced liver disease- with the liver histology showing established cirrhosis with chronic cholestasis and excess copper accumulation. Both died two years later due to hepatic encephalopathy. The third sibling, a 37-year-old man on routine check-up was found to have abnormal liver functions. The liver biopsy showed marked bile ductular proliferation with bridging fibrosis, reduction in interlobular bile ducts, and excess copper accumulation. The presence of antimitochondrial antibody in the serum in 1 in 320 dilutions in all three patients and 1 in 80 dilutions in the oldest healthy sibling and hypergammaglobulinemia in all the siblings confirmed the diagnosis of familial primary biliary cirrhosis. Antinuclear and smooth muscle antibodies were not present. Clinical and biochemical improvement has been noted in the third sibling after therapy with ursodeoxycholic acid.
The prevalance of enterically transmitted hepatitis viruses, namely, hepatitis A virus (HAV) and hepatitis E virus (HEV) were studied in 404 patients with acute hepatitis attending a tertiary-care hospital in south India. Presence of current HAV/HEV infection was ascertained by the demonstration of IgM antibodies. In 381 patients tested for both agents, HAV IgM was present in 51(13.3%) and HEV IgM present in 66(17.3%). There was dual infection in 3 males (0.8%). HEV infection was seen mostly in older children and adults with only 5.5% occurring in children < 12 years of age. HAV infection was commonly seen to occur in < 12 years of age group (52.7%). One hundred and twenty-six patients were from the Vellore region, among whom HAV and/or HEV aetiology was observed in 28.5%. In this region there did not appear to be any correlation between occurrence of acute hepatitis due to these viruses and rainfall or environmental temperature. Acute hepatitis due to enteric hepatitis viruses was seen throughout the year.
BACKGROUND: Intestinal tuberculosis and Crohn's disease are chronic granulomatous disorders that are difficult to differentiate histologically. AIMS: To characterise distinctive diagnostic features of tuberculosis and Crohn's disease in mucosal biopsy specimens obtained at colonoscopy. METHODS: Selected histological parameters were evaluated retrospectively in a total of 61 biopsy sites from 20 patients with tuberculosis and 112 biopsy sites from 20 patients with Crohn's disease. The patients were chosen on the basis of clinical history, colonoscopic findings, diagnostic histology, and response to treatment. RESULTS: The histological parameters characteristic of tuberculosis were multiple (mean number of granulomas per section: 5.35), large (mean widest diameter: 193 microm), confluent granulomas often with caseating necrosis. Other features were ulcers lined by conglomerate epithelioid histiocytes and disproportionate submucosal inflammation. The features characteristic of Crohn's disease were infrequent (mean number of granulomas per section: 0.75), small (mean widest diameter: 95 microm) granulomas, microgranulomas (defined as poorly organised collections of epithelioid histiocytes), focally enhanced colitis, and a high prevalence of chronic inflammation, even in endoscopically normal appearing areas. CONCLUSIONS: The type and frequency of granulomas, presence or absence of ulcers lined by epithelioid histiocytes and microgranulomas, and the distribution of chronic inflammation have been identified as histological parameters that can be used to differentiate tuberculosis and Crohn's disease in mucosal biopsy specimens obtained at colonoscopy.
In this study on Indian subjects, the single X-ray method was assessed for its reliability in measuring the transit of particulate matter through the colon, and if inaccurate a suitable and simple alternative was to be devised. Radio-opaque markers were serially followed in 20 normal male volunteers. This was done by three 12 hourly radiographs and by stool collection to determine the transit time through the colon and its segments. It was compared with similar parameters calculated from the same data using one radiograph and three combinations of two radiographs each. The mean +/- SD colonic transit time determined by using three X-rays was 18.0 +/- 6.6 h which agreed well with the mean mouth-to-anus transit time of 24.2 +/- 6.8 h (mean +/- SDdiff = -6.2 +/- 2.9). When two of the three X-rays were used in various combinations, the best results were obtained with the method including radiographs at 12 and 36 h. Parameters calculated from a single radiograph done 36 h after the ingestion of makers showed lesser agreement with the results of the three radiograph method. Therefore in subjects with rapid gut transit, the simplified method for estimating the colonic and segmental transit times using a single X-ray is inaccurate. Using two radiographs enhances the accuracy.
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Anti-depressants have been reported to be useful in the management of the Irritable Bowel syndrome. We studied the efficacy of amitriptyline for 12 weeks in a randomized double-blind placebo-controlled trial. Forty patients who met predefined criteria entered the trial. They received 25 mg amitriptyline for the first week, 50 mg for the second week and 75 mg nightly thereafter until the end of the 12th week. The drug and placebo groups were comparable in all major pretreatment variables. Amitriptyline was found to be significantly more effective than placebo in producing global improvement, increasing feelings of well-being, reducing abdominal pain and increasing satisfaction with bowel movements. Younger age and increasing extroversion predicted a better response to amitriptyline. Severity of depressive and anxiety symptoms and other personality variables did not influence outcome.
Spontaneous mucosal bleeding is not uncommon in hereditary coagulation factor deficiencies and is usually due to a local lesion. We report a case of repeated episodes of melaena in a known haemophiliac caused by a cavernous haemangioma in the jejunum.
The relative accuracy of the left and the right arms in active positioning was studied in a group of 24 male right-handed undergraduates. The task required active positioning of the left and right arms at each of the four angular positions (30 degrees, 45 degrees, 60 degrees, and 75 degrees). The left arm was more accurate in active positioning than the right arm. There was a progressive increase in error for both arms as the arms flexed more in reducing the angle at the joint. Results are discussed in light of suggestions concerning the superiority of the right hemisphere in the processing of kinesthetic and proprioceptive information.
A case of malignant mesothelioma (MM) in a 15 year old boy is reported. He had a prosthetic aortic valve implanted in 1980 at our centre for rheumatic aortic regurgitation. Fever, weight loss and chest pain as initial symptoms suggested possibility of prosthetic valve endocarditis. Dysphagia as another initial symptom was interesting and caused further diagnostic dilemma. Role of Computerised Tomography (CT) scan in diagnosis of MM is highlighted.
Hypoalbuminaemia has been implicated as a possible cause of the radiological abnormalities of the small intestine in tropical sprue. Barium follow-through examination was performed in 35 southern Indian patients with documented tropical sprue, and jejunal width and fold pattern abnormalities were compared with those of a local age-matched control group. Although hypoalbuminaemia was present in 66% of patients with tropical sprue, in only one case was an increase in jejunal calibre associated with a serum albumin concentration below 27 g/l, the threshold below which jejunal dilatation occurs in hypoalbuminaemia alone. These findings suggest that other factors, such as the extent of the mucosal injury, are likely to be more important than hypoalbuminaemia in producing jejunal dilatation in this condition. Abnormalities of fold pattern occurred more frequently than increase in jejunal calibre and appear to be a more sensitive indicator of disease.
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This placebo controlled, double-blind, cross-over trial involving 20 patients was conducted to assess the effect of ispaghula husk on the major bowel symptoms and the whole gut transit time in irritable bowel syndrome (IBS) and to determine if changes in these parameters were related to global improvement. All 20 patients were interviewed at the end of the treatment periods and 14 patients kept concurrent daily records. Ispaghula therapy resulted in improvement in global symptoms and satisfying bowel movements (P less than 0.001) but produced no change in abdominal pain or flatulence. There was a correlation between the improvement of well-being and the number of days of satisfying bowel movements (P less than 0.001) but not with the indexes of pain, stool frequency or changes in the transit time. The easing of bowel dissatisfaction appears to be a major reason for the therapeutic success of ispaghula in IBS.
Vesical varices in portal hypertension are rare. We report a patient with portal hypertension who developed recurrent painless hematuria. Cystoscopy was normal. Doppler ultrasound and MR angiography showed a dilated paraumbilical vein within the falciform ligament coursing down to the urinary bladder wall and draining into the right internal iliac vein. He underwent liver transplantation for decompensated chronic liver disease. He is in good health and has not had further episodes of hematuria.
An eleven-year-old girl had massive watery diarrhea. She was found to have pancreatic VIPoma. It responded favorably to surgical resection of the tumor. There was no tumor recurrence at 18 months of follow-up.