Significance of the hepatitis C virus (HCV) core antigen as an alternative plasma marker of active HCV infection.

PURPOSE: To evaluate the role of core antigen (Ortho trak-C assay) as a marker of active HCV infection in comparison to HCV RNA as detected by reverse transcription polymerase chain reaction (RT-PCR). METHODS: This evaluation was carried out during January 2000 to December 2003 in HCV infected individuals who were treatment naomicronve or were on anti-viral therapy. Additionally, sequential plasma samples from patients on clinical follow-up were included in this study. A total of 167 samples from 61 patients were tested by trak-C and RT-PCR. HCV RNA detection was achieved by a RT-PCR. Trak-C assay results were also compared in a limited proportion of these samples with known HCV viral load and genotype. RESULTS: Of 167 samples tested, 56.9% were RNA positive and 43.1% were RNA negative while 50.3% were trak-C positive and 49.7% were trak-C negative, yielding a sensitivity of 85.3% and a specificity of 95.8% for the trak-C assay (Kappa co-efficient = 0.8). The concentration of HCVcAg and HCV RNA showed significant correlation (n=38, r=0.334, P =0.04). The trak-C assay detected the most prevalent HCV genotypes in India without significant difference (P =0.335). The difference between mean absorbance values of HCV RNA positive samples compared to HCV RNA negative samples in the trak-C assay was highly significant (P < 0.000). Qualitative results of trak-C assay and RT-PCR were comparable in 93% of follow-up samples. CONCLUSIONS: Trak-C assay can be recommended for confirmation of HCV infection and follow-up in laboratories with resource-poor facilities.

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.

Toxic megacolon in a renal allograft recipient with cytomegalovirus colitis.

We report a 35-year-old man, a renal allograft recipient, who presented with toxic megacolon. Segmental biopsies from the colon were consistent with cytomegalovirus colitis. Serum polymerase chain reaction for cytomegalovirus DNA confirmed the diagnosis. He was treated with ganciclovir but, though his abdominal condition improved initially, he worsened later and succumbed to his illness.

Hepatopulmonary syndrome: clinical perspectives.

Hepatopulmonary syndrome consists of a triad of chronic liver disease, pulmonary gas exchange abnormalities and pulmonary vascular dilatation in the absence of detectable cardiopulmonary disease. Patients usually present with symptoms of liver disease and the clinical recognition of this condition is a challenge. Newer non-invasive tests facilitate the diagnosis. Therapeutic strategies for this condition are still dismal. Liver transplantation is a possible curative option for a subgroup of patients with hepatopulmonary syndrome.

Clinical manifestations and survival pattern of Wilson's disease.

BACKGROUND: Wilson's disease usually presents in childhood. Early recognition and treatment is crucial to retard the progression of this disease, which can be debilitating, if not fatal. We analysed the clinical manifestations and survival pattern of patients admitted at our centre from 1993 to 1996. METHODS: Hospital records of patients were reviewed to obtain the clinical manifestations. The survival status of patients was determined by a prospective follow up. The Kaplan-Meier survival curve and univariate Cox proportional hazards model were used to determine the survival pattern and risk for death in Wilson's disease. RESULTS: A total of 60 patients were studied. The median age at onset of symptoms was 12 years (range 5-52 years). The log rank test showed a significant difference in the mean (SD) survival between patients who presented with hepatic [87.36 (15.26) months] and neurological symptoms [114.33 (9.14) months]. Cox proportional hazards analysis showed a hazard ratio of 4.9 for patients with a hepatic presentation compared to those with neurological presentation. CONCLUSION: The presentation of Wilson's disease is not limited to the paediatric age group. Patients with a hepatic presentation had a five-fold higher risk of mortality when compared to those with a neurological presentation.

Vesical varix in cirrhosis of liver.

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.

Preventing transmission of blood-borne pathogens to health care workers.

Health care workers are exposed to blood-borne pathogens, mainly the human immunodeficiency virus, hepatitis B virus and hepatitis C virus. Infection by these viruses leads to chronic or fatal illnesses which are expensive and difficult to treat. Individuals who harbour these viruses may be asymptomatic and hence all patients should be assumed to harbour a blood-borne pathogen. All health care workers should take adequate precautions (a set of guidelines termed 'universal precautions'). Methods of preventing transmission of blood-borne pathogens include vaccination against hepatitis B virus, following universal precautions and taking adequate post-exposure prophylaxis.