Wilson disease (WD) is an autosomal recessive disorder caused by defects in the copper-transporting P-type ATPase gene (ATP7B) resulting in the accumulation of copper in the liver and the brain. We identified prevalent mutations in the ATP7B of Indian WD patients and attempted to correlate those with the disease phenotype. Patients from 62 unrelated families and their first-degree relatives comprising 200 individuals were enrolled in this study. Three dinucleotide repeat markers flanking WD locus and a few intragenic SNPs were used to determine the genotypes and construct haplotypes of the patients. Seven recurring haplotypes accounting for 58% of the total mutant chromosomes were identified, and four underlying defects in the ATP7B representing 37% of WD chromosomes were detected. In addition, five other rare mutations were characterized. Thus a total of nine mutations including five novel changes were identified in the ATP7B of WD patients. Interestingly, homozygotes for different mutations that would be expected to produce similar defective proteins showed significant disparity in terms of organ involvement and severity of the disease. We also observed WD patients with neurological symptoms with little or no manifestation of hepatic pathogenesis. In one WD family, the proband and a sib had remarkably different phenotypes despite sharing the same pair of mutant chromosomes. These findings suggest a potential role for yet unidentified modifying loci for the observed phenotypic heterogeneity among the WD patients.

No abstract

Present study shows that Dhat syndrome is a distinct clinical entity seen all over India, with its characteristic features.

Introduction There are limited numbers of studies on Dhat syndrome. Major limitations of the existing literature are heterogeneous assessment methods used to describe the comorbidity and small sample size from isolated centers. Aim To assess comorbidity with a common methodology in patients with Dhat syndrome from multiple centers across India. Methods Using a cross-sectional design, this multicentric study involved assessment of 780 male patients, aged more than 16 years, across 15 study centers. Main Outcome Measures ICD-10 criteria (for evaluation of psychiatric morbidity and sexual dysfunction) Results About one-third (32.8%) of the cases had no comorbidity. One-fifth (20.5%) of the patients had comorbid depressive disorders and another one-fifth (20.5%) had comorbid neurotic, stress-related and somatoform disorders. Half (51.3%) of the study sample had comorbid sexual dysfunction. When various combinations of comorbidities were evaluated, it was seen that more than one-fourth (28.7%) of the patients had only comorbid sexual dysfunction and one-sixth (15.9%) had only comorbid depressive/anxiety disorders. A little more than one-fifth (22.6%) had comorbidity of both sexual dysfunction and depressive/anxiety disorders. Conclusion Comorbid sexual dysfunction is seen in half of the cases of Dhat syndrome, and it is more common than comorbid depressive and anxiety disorders.

This study suggests that caregivers of patients with schizophrenia experience higher stigma than the caregivers of patients with bipolar disorder and recurrent depressive disorder. Higher stigma is associated with higher psychological morbidity in the caregivers. Therefore, the clinicians managing patients with severe mental disorders must focus on stigma and psychological distress among the caregivers and plan intervention strategies to reduce stigma.

Our results suggest that the DYT1 gene might have a limited role in causation of dystonia in the Indian population.

No abstract

No abstract