Becker's variant of myotonia congenita in two siblings--a clinico-genetic study.

We report a family of a brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker's variety). To the best of our knowledge, no account of a family of autosomal recessive myotonia (Becker's disease), has earlier been reported from India.

Wound healing activity of human placental extracts in rats.

AIM: To study wound healing activity of the human placental extract (HPE) in rats. METHODS: Full thickness wounds were inflicted on depilated dorsum of Charles foster rats with 8 mm Acu-punch biopsy. The HPE was applied both at topical and im routes (2.5 mL/kg). Effects were compared on the basis of physical criteria, biochemical criteria, and histopathological study with respect to untreated control, vehicle control (1.5 % benzyl alcohol), and framycetin topical treated groups. RESULTS: Significant lowering of wound size (P<0.05), wound index (P<0.05), and number of days required for complete healing (P<0.01); significant gain in tensile strength (P<0.01); appreciable increase of tissue DNA, total protein, and collagenesis were observed in HPE treated group. CONCLUSION: Human placental extract systematically helps collagenesis leading to potent healing of wounds.

Spinocerebellar ataxia--type 6.

Fifty six years lady presented with pure cerebellar ataxia with positive family history from paternal side presented to our clinic. DNA screening found to be SCA6. This is the first case report of SCA6 from India.

Molecular diagnosis of myotonic dystrophy and Huntington's disease from Calcutta, India.

It has been identified that the expansion of normally polymorphic CTG repeats in myotonin protein kinase (DM-PK) gene in myotonic dystrophy (DM) and CAG repeats in huntingtin gene in Huntington's disease (HD) acts as the causative mutation. This hasimproved the ability of molecular diagnosis of these diseases. On molecular genetic screening of 40 normal chromosomes from people living in and around Calcutta, we have obtained 10 distinct alleles at the DM locus, with an estimated heterozygosity of 0.83. We have also observed 10 alleles at the HD locus on 32 chromosomes, with an estimated heterozygosity of 0.79. We further report here that at the DM locus, in two clinically diagnosed heterozygous individuals, the expanded alleles were of sizes 330 repeats and 1400 repeats respectively; the allele on the homologous chromosome was within the normal repeat range for both these individuals. Of two HD patients, one carried an expanded allele of size of 57 repeats, the other allele being in the normal range; while the second patient had both the alleles in the normal range.