The structures that underlie normal reproductive function

The mechanisms and physiology of reproductive function have fascinated scientists throughout time. Recent cellular and molecular level structural studies have provided unprecedented insights into reproductive systems and signaling networks. This 'cutting edge' editorial provides a recent example in each of these areas, namely, the anatomical integrity of the follicle, the molecular structure of activin with its binding partners and the molecular regulation of inhibin. These three examples of structure informing function help explain reproductive health and may provide solutions to reproductive disease.     

Prognostic indicators in Indian childhood cirrhosis

Nineteen cases of Indian childhood cirrhosis (ICC) were studied for determining prognostic indicators. Lower serum bilirubin and high serum alkaline phosphatase were associated with good prognosis. Mere presence of hyaline did not influence the clinical and biochemical parameters, however excess hyaline formation was associated with rapidly deteriorating course. Extent of reticulin condensation had no specific significance, but extensive fibrosis was associated with low serum alkaline phosphatase level and shorter survival period. There were six survivors in the study with a follow up upto 26 months and repeat liver biopsies in most of them showed very little changes.     

A clinical study of measles

Summary 75 children with measles were studied with the following conclusions: There was a high incidence during March, April and May, which declined abruptly with the onset of the monsoon. Younger children were more susceptible to measles, with the ratio of 2.6:1 for boys and girls. Children with malnutrition were more prone to get measles infection and liable to have much dreaded complications. Diarrhoea (57 cases or 76%) and pulmonary involvement (42.6%) were the common complications observed in measles. Encephalitis (2 or 2.6%) and jaundice (1.3%) were also observed. The mortality rate in measles was 26.6%, of which 11 or 14.6% were due to pulmonary complications. From the District Hospital, Hamirpur, U.P.     

Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India

Wiedemann–Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with WWS, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested WWS as the top candidate disorder. To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype.     

Are there ethnic differences in deletions in the dystrophin gene?

We studied 160 cases of Duchenne muscular dystrophy (DMD) drawn from all parts of India, using multiplex PCR of 27 exons. Of these, 103 (64.4%) showed intragenic deletions. Most (69.7%) of the deletions involved exons 45–51. The phenotype of cases with deletion of single exons did not differ significantly from those with deletion of multiple exons. The distribution of deletions in studies from different countries was variable, but this was accounted for either by the small number of cases studied, or by fewer exons analyzed. It is concluded that there is likely to be no ethnic difference with respect to deletions in the DMD gene. Am. J. Med. Genet. 68:152–157, 1997 © 1997 Wiley-Liss, Inc.     

Nasal mucous ciliary clearance and olfaction in atrophic rhinitis

Nasal mucocilliary Clearacne (NMCC) was studied in 75 cases of atrophic rhinitis and results were compared with 35 healthy controls using Anderson’s method. Olfaction in atrophic rhinitis decreases but its extent has not been studied earlier. We have tried to quantify olfaction. This was normal in 10.6%, mild hyposmia was seen in 30%, severe in 23.33% and anosmia was present in 36%.