Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis.
View Article and Find Full Text PDFThis article can rightly be called 'the rise of the microbial phoenix'; for, all the microbial infections whose doomsday was predicted with the discovery of antibiotics, have thumbed their noses at mankind and reemerged phoenix like. The hubris generated by Sir Alexander Fleming's discovery of Penicillin in 1928, exemplified best by the comment by William H Stewart, the US Surgeon General in 1967, "It is time to close the books on infectious diseases" has been replaced by the realisation that the threat of antibiotic resistance is, in the words of the Chief Medical Officer of England, Dame Sally Davies, "just as important and deadly as climate change and international terrorism". Antimicrobial resistance threatens to negate all the major medical advances of the last century because antimicrobial use is linked to many other fields like organ transplantation and cancer chemotherapy.
View Article and Find Full Text PDFIron deficiency is not just anemia; it can be responsible for a long list of other manifestations. This topic is of great importance, especially in infancy and early childhood, for a variety of reasons. Firstly, iron need is maximum in this period.
View Article and Find Full Text PDFArticles appear periodically in Indian and western literature, about occurrence of vitamin D deficiency in exclusively breast fed babies. Some countries have formulated guidelines for prevention of vitamin D deficiency in such babies. In this study, twenty cases of nutritional rickets were diagnosed in exclusively breast fed babies between December 2003 and December 2006.
View Article and Find Full Text PDFKawasaki syndrome is one of the commonest vasculitides in pediatric age group with devastating consequences if not treated early. Intravenous Gammaglobulin leads to rapid amelioration of clinical symptoms and significantly decreases the risk of development of coronary artery aneurysms. Occasionally, Kawasaki disease may be resistant to I/V IgG.
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