Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

Indian Journal of Pediatrics - To report a phenotypic series of eight patients of Beckwith-Wiedemann Syndrome (BWS) with abnormalities of 11p15.5 region to highlight the spectrum of phenotypic...     

Current trends in infant care: An Indian experience

The infant is the youngest but perhaps the most valuable member of society. It has been unequivocally established through research that the period up to two years is the most potent for forming and establishing the basis of later development. This paper summarizes the findings of two research studies on infant care in India that began in July 1988 and culminated in March 1989 under my guidance. The two studies are linked in their final implications for infant stimulation and in their role in providing insights into changing trends in infant-care in India.

In study I patterns of infant caregiving practiced by fathers were investigated. Study II looked into infant-care practices in Punjabi families where the grandmother lived with the young parents.     

Sclerosing stromal tumour of ovary--a clinicopathological and immunohistochemical study of five cases

We describe the clinicopathological and immunohistochemical findings in five cases of sclerosing stromal tumours of ovary and compare our findings with other reported cases of this uncommon tumour and with fibromas and thecomas which they may mimic.     

Malignant paraganglioma of the larynx

Paraganglioma of the larynx are rare tumours and only 25 cases have been reported in the world literature. Paraganglioma of larynx are paired superior and inferior laryngeal glomus bodies in association with superior and recurrent laryngeal nerves respectively. The tumours arising from laryngeal glomus bodies appear in subglottic space, in trachea, as a supraglottic mass and as a neck swelling. A case of malignant paraganglioma of the larynx with metastasis to the cervical lymphnodes and lungs have been presented with brief review of literature.     

Neural hamartoma of nose

Hamartoma is characterized by an excessive amount of cell proliferation which reaches maturity and then cease to reproduce, hence hamartoma are self limiting. Therefore the hamartoma is a tumour like but are not tumours. A case of neural hamatoma of nose is reported here.     

Evaluation of Coumarin and Neoflavone Derivatives as HCV NS5B Polymerase Inhibitors

Coumarins and coumestans represent an important family of compounds with diverse pharmacological properties. We recently identified coumestans as novel inhibitors of hepatitis C virus NS5B polymerase and predicted their binding in thumb pocket‐1 (TP‐1) of NS5B. As the coumarins are structurally related to coumestans by virtue of their common A‐ and B‐rings, we postulated them to also exhibit similar binding interaction with NS5B and inhibit its polymerase function. We therefore investigated 24 coumarin and neoflavone derivatives as candidate NS5B inhibitors and identified 14 compounds inhibiting NS5B polymerase activity with IC₅₀ values between 17 and 63 μm . Of these, the newly synthesized 6,8‐diallyl‐5,7‐dihydroxycoumarin ( 8a ) was produced in three steps in high chemical yield from floroglucinol and found to be the most potent of this series, exhibiting activity similar to the reference coumestan LQB‐ 34 . The binding site of 8a was mapped to TP‐1 of NS5B by counter screening against P495L NS5B mutant, employed as a screen for TP‐1 site binders. NS5B‐TP‐1‐ 8a interaction map provided insight into 8a binding and offered clues for future SAR optimization.     

Acute leukemia associated with valproic acid treatment: A novel mechanism for leukemogenesis?

Valproic acid has been previously associated with hematologic toxicity, including a reversible myelodysplasia-like syndrome without chromosomal abnormalities. We now report three cases of acute leukemia with features of secondary leukemia associated with valproic acid therapy: two cases of acute myelogenous leukemia with multilineage dysplasia, one with trisomy 8 and one with monosomy 7, and one case of secondary acute lymphoblastic leukemia with del (7) (q22q34), del (9) (q21.11q22), del (11) (q12q23). One patient had a previous myelodysplastic syndrome while on valproic acid. Valproic acid has been previously shown to be a histone deacetylase inhibitor. Inhibition of histone deacetylase causes a relaxation of chromatin structure and thus increases susceptibility to DNA damage and sensitizes cells to radiation. We propose that valproic acid therapy may lead to secondary leukemia by increasing DNA damage through chronic inhibition of histone deacetylase.     

Establishing national neonatal perinatal database and birth defects registry network — Need of the hour!

Early detection and prevention of birth defects is necessary to further reduce neonatal morbidity and mortality. A birth defect registry or surveillance system is necessary to assess the exact magnitude, profile and modifiable risk factors for birth defects. We review the existing efforts and suggest possible options for addressing this important issue. Connecting birth defects registry with the pre-existing programs such as National Neonatal Perinatal Database could be one of the option.