ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.

OBJECTIVE: To analyze ATP7B mutations in Wilson's disease (WD) patients from the Indian subcontinent and to correlate these with WD phenotype. METHODS: We studied 27 WD patients from 25 unrelated families. Twenty-two families were from three southern Indian states - Tamil Nadu andhra Pradesh and Kerala. We applied conformation- sensitive gel electrophoresis (CSGE) to screen for the mutations in patients and their families. PCR products exhibiting aberrant patterns in CSGE were subjected to direct DNA sequencing. As siblings affected by WD within a family share identical ATP7B genotype, we compared WD phenotype among affected siblings within families. RESULTS: ATP7B mutations were detected in 22 of the 25 probands -13 were homozygotes and 9 were compound heterozygotes. Eleven novel mutations were detected. Only two common mutations were found: G3182A in 4 (16%) and C813A in 3 (12%) probands. 'Hot spots' for ATP7B mutations were exons 18 and 13. Lack of common dominant mutations prevented correlation of individual ATP7B mutations with WD phenotype. Symptomatic WD in a live sibling was not found in any family. In 8 families, a sibling died of presumed WD - in 6 of these, WD phenotype was identical to that in the proband. CONCLUSIONS: We describe the spectrum of ATP7B mutations including 11 novel mutations in Indian WD patients and document lack of a single dominant mutation. Identical WD phenotype among siblings in only 6 of 8 families with >1 child affected by WD suggests that factors other than ATP7B mutations influence WD phenotype.

Unusual presentation of a retroperitoneal lymphangioma.

A 3 year old child presented with hemorrhagic ascites of short duration. Based on clinical manifestation and investigations a differential diagnosis of peritoneal tuberculosis, pancreatic ascites or malignant ascites was considered. Laparotomy revealed a huge retroperitoneal cystic lymphangioma confirmed by histopathology. The unusual presentation of retroperitoneal tumours as pseudoascites is discussed.

Portal biliopathy.

A young male with portal venous thrombosis presented with obstructive jaundice, due to common bile duct stricture secondary to portal biliopathy.

Hypereosinophilic syndrome.

Hypereosinophilic syndrome is a leukoproliferative disease characterised by sustained overproduction of eosinophils. The three diagnostic criteria for this disorder are (1) Eosinophilia of greater than 1500 cells/ml, persisting for longer than 6 months, (2) lack of another diagnosis to explain the eosinophilia and (3) signs and symptoms of organ involvement. We report a 15-year-old boy who was diagnosed as Hypereosinophilic syndrome based on these criteria.

Prevalence of antibodies to hepatitis A and hepatitis E virus in urban school children in Chennai.

With similar feco-oral mode of transmission of Hepatitis A and E viruses, and improving levels of personal hygiene among higher socioeconomic population, periodic surveillance on HAV/HEV exposure pattern may be of immense public health value. One such attempt was made in Tamilnadu, India by analysing the presence of antibodies to HAV and HEV in 185 healthy children of 6 months to 12 years of age. While anti HAV positivity was 96.9% by 12 years of age, anti HEV positivity fluctuated between 5.3-16.7%. The study suggests the necessity for developing a vaccine for HEV to prevent the frequent occurrence of HEV outbreaks in India, since natural HEV exposure does not bestow significant protection as observed in HAV.

Comparison of polyethylene glycol versus combination of magnesium sulphate and bisacodyl for colon preparation.

Colon preparation using polyethylene glycol (PEGLEC) and combination of bisacodyl and magnesium sulphate was compared in 74 patients. Type of preparation did not influence patient discomfort. The quality of preparation was excellent with PEGLEC in 63.6% as compared to 41.6% with combination preparation. The completion rates were similar in both groups. Good preparation was linked with shorter procedure duration (p = 0.001) and greater depth of examination. No major side effects were noted with both preparations. To conclude, polyethylene glycol is recommended for screening of right colon while combination of bisacodyl and magnesium sulphate is a good and cheap preparation modality to screen the left colon.

Role of pinaverium bromide in south Indian patients with irritable bowel syndrome.

The effect of pinaverium bromide in controlling gastrointestinal symptoms in 61 patients with irritable bowel syndrome was studied, as an open trial. Individually, there was significant relief in abdominal discomfort/pain as well as in bowel symptoms in most of the patients. Abdominal pain was reduced in 49%, stool consistency improved in 74%, straining and urgency decreased in 71% and mucus decreased in 64%. Tolerance to the drug administered was good and side-effects reported were few.

Is vegetarianism a precipitating factor for gallstones in cirrhotics?

AIM: To study the association of factors such as alcohol, smoking and vegetarianism with presence of gallstones amongst cirrhotics. PATIENTS AND METHODS: Data on alcoholism, smoking and vegetarianism was collected from the case records of 669 cirrhotics with (76) or without gallstones (593) retrospectively. Relative risk for the factors was computed individually and in combination controlling for the effects of alcoholism and smoking on vegetarianism. RESULTS: Alcoholism and smoking were of low relative risk [R.R-1.27 (95% CI 0.82 to 1.96), and 1.02 (95% CI 0.65 to 1.61) respectively] while vegetarianism was associated with high risk for gallstone formation in cirrhotics [R.R 2.74 (95% CI 1.65-4.53)]. Vegetarian men had a relative risk of 3.02 (95% CI 1.75-5.22) irrespective of their alcoholic status. If women were alcoholic the relative risk increased to 7.03 (95% CI 3.26-15.12). Controlling for effects of gender and alcoholism, vegetarian cirrhotics had a 3 times greater risk for gallstone formation [Mantel Haenszel Relative Risk 3.18 (95% CI MHRR 1.82-5.56)]. CONCLUSIONS: Cirrhotic, vegetarian women in South India have a much higher risk for gallstones, if they are alcoholic. Alcoholic men who are vegetarians are at a greater risk for gallstone disease.

Oesophageal manometry in noncardiac chest pain.

Chest pain of oesophageal origin is an important differential diagnosis in patients with cardiac chest pain. A preliminary survey of 40 patients with noncardiac chest pain (NCCP) revealed oesophageal motility disorder in 47.5%; achalasia cardia being the most frequent disease (47.3%). 15.8% of these patients with motility disorder had features of progressive systemic sclerosis and another 15.8% had non specific oesophageal motility disorder (variants). Compared to barium swallow, oesophageal manometry was found to be superior in the diagnosis of oesophageal motility disorder.

Faecal chymotrypsin assay in tropical and alcoholic chronic pancreatitis.

Faecal chymotrypsin (FCT) levels were estimated in a group of patients with tropical chronic pancreatitis (TCP) and compared with patients with alcoholic chronic pancreatitis (ACP), 'gastrointestinal' controls and 'healthy' subjects. Exocrine pancreatic insufficiency as assessed by low faecal chymotrypsin levels (less than 5.8 mu/g) were present in 85.7 per cent of TPC and 84.6 per cent of ACP patients. Mean FCT levels as well as the distribution of FCT values were similar in TCP and ACP patients and significantly lower than the two control groups (P less than 0.001). There was also no difference with respect to mean FCT levels between subgroups of TCP patients with and without diabetes and those with and without calcification. Faecal chymotrypsin assay is a simple test for diagnosis of chronic pancreatitis in gastroenterological centres in tropical countries.