Newborn Screening for Congenital Hypothyroidism, Galactosemia and Biotinidase Deficiency in Uttar Pradesh, India.

Objective: To assess feasibility and recall rates for newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in a predominantly rural and inner city population in and around the city of Lucknow in Uttar Pradesh, India. Design: Prospective observational study. Setting: Two tertiary-care and 5 district hospitals in and around Lucknow. Participants: All babies born in above hospitals during the study period. Methods: Heel prick samples were collected after 24 hours of life. Dried blood spot TSH, total galactose and biotinidase were assayed by immunofluorometry. Age related cut-offs were applied for recall for TSH. For galactosemia and biotinidase deficiency, manufacturer-suggested recall cut-offs used initially were modified after analysis of initial data. Main outcome measure: Recall rate for hypothyroidism, galactosemia and biotinidase deficiency. Results: Screening was carried out for 13426 newborns, 73% of all deliveries. Eighty-five percent of those recalled for confirmatory sampling responded. Using fixed TSH cut off of 20 mIU/L yielded high recall rate of 1.39%, which decreased to 0.84% with use of age-related cut-offs. Mean TSH was higher in males, and in low birth weight and vaginally delivered babies. Eleven babies had congenital hypothyroidism. Recall rates with modified cut-offs for galactosemia and biotinidase deficiency were 0.32% and 0.16%, respectively. Conclusion: An outreach program for newborn screening can be successfully carried out in similar socio-cultural settings in India. For hypothyroidism, the high recall rate due to early discharge was addressed by age-related cut-offs.

Antidiabetic activity of alcoholic extract of cinnamomum zeylanicum leaves in alloxon induced diabetic rats.

The present study was carried out to investigate theantidiabetic potential of ethanolie extract of Cinnomomum zeylamicum leaves. Oral administration of ethanolic extract in the doses of 100,150 & 200 mg/kg body weight to white Wistar albino rats significantly reduced their blood sugar level in allxon induced diabetic rats under acute and sub acute studies.

Fascicular multiple ocular motor nerve paresis as first presentation of anaplastic astrocytoma.

A case of spontaneous, painless partial III (pupil-sparing) and IV fascicular nerve paresis as the first presentation of anaplastic astrocytoma is reported. The other ocular, neurological and systemic examination was within normal limits. The literature and possible anatomical location of this atypical presentation is reviewed.

Congenital insensitivity of pain with anhidrosis.

Congenital insensitivity to pain with anhidrosis is an autosomal recessive disorder included in a group of rare diseases termed as hereditary sensory-motor neuropathies. The diagnosis is made usually in early childhood period as most of the children present with recurrent unexplained hyperpyrexia. This case report is of a neonate who presented with tachypnea and fever on second day of life being treated for clinical sepsis and had no response to antibiotics. On pricking for i.v. canulation there was no cry, and temperature of the baby returned to normal on removing the covering blankets. Diagnosis was established by family history, skin and sural nerve biopsy. Early diagnosis is important for prevention of injury, self mutilation and growth retardation. This case report points to the question that should assessment of pain sensation be a part of routine examination of newborn.