Knowledge, source and practice of spacing methods of contraception among eligible women of Varanasi slums

Background: Still many Indian states observe low spaced births and high fertility above replacement level; mostly contributed by disadvantaged society. Factors influencing are entrenched in ignorance, male child desire and traditional culture to some extent.     Aim and Objectives: To determine knowledge and practice of spacing methods of contraception and the associated socio-demographic variables.   Settings and Design: Cross-sectional study Methods and Material: A community based cross-sectional study; conducted among 590 eligible couples of slum community of Varanasi selected following two stage stratified random sampling. First stage stratification was based on slum size and second stage was caste class group size. . Statistical analysis used: Knowledge and practice were described in percent and the associated factors were identified by logistic regression. Statistical significance was judged at α = 0.05. Results: Overall knowledge of any spacing methods was in only 61.2% women and practice ever in married life was 44.4%, even those who knew the methods ever practice was only 66.2%. Knowledge gained was mostly through husband for condom, health professional for Cu-T and oral pills. In recent years (last 7 years), overall practice of spacing methods was only 30%. Contraception practice was association survival of child (lesser, if child surviving), number of births (higher, if more living born), religion (lesser, if Muslim), type of house (lesser, if living in hut/kachcha houses) and wife educational attainment (lesser, if low education level)                                                                                        Conclusion: Eligible couples of slum community need knowledge of contraception as well as motivation to practice spacing methods to reduce higher level of fertility.   Keywords: Contraception, spacing methods, fertility &nbsp

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells’ lysosomes. A beta-Glucosidase (GBA) gene defect results in glucocerebrosidase enzyme deficiency. Though the disease is mainly diagnosed in childhood, the adult manifestation is often missed or identified late due to the failure to recognize the heterogeneous clinical presentation. The present study includes seven unrelated Indian adult patients (age range: 20–40 years) having splenomegaly, with or without hepatomegaly, cytopenia and bone abnormality. Methods The biochemical investigation implicated measuring plasma chitotriosidase enzyme activity followed by confirmatory test of β-Glucosidase enzyme activity from the leukocytes. The molecular characterization involved patients’ initial screening for the common Gaucher mutation (Leu444Pro). Later, all patients were subjected to whole GBA gene coding region study using bidirectional Sanger sequencing. The population screening for common Gaucher disease mutation (Leu444Pro) was executed in 1200 unrelated and healthy Indian subjects by Restriction Fragment Length Polymorphism-Polymerase Chain Reaction technique. The allele frequency was calculated using Hardy-Weinberg formula. Results The biochemical analysis revealed a significant reduction in the β-Glucosidase activity in all the patients. Also, an elevated level of plasma Chitotriosidase activity in five patients supported their diagnosis of Gaucher disease. Sanger sequencing established four patients with homozygous variation and three patients with compound heterozygous variation in GBA gene. This study uncovers two missense variants (Ala448Thr and Val17Gly) not previously reported in Gaucher disease patients. Also the known mutations like Leu444Pro, Arg329Cys, Asp315Asn, Ser125Arg, and Arg395Cys were identified in these patients. The homology modeling suggested the destabilization of the protein structure due to novel variants. The Leu444Pro mutation screening in the Indian population spotted two people as a carrier. This emerged the carrier frequency of 1:600 along with wild-type allele frequency 0.97113 and mutant allele frequency 0.02887. Conclusions The study reports novel and known variants identified in the GBA gene in seven adult patients. The given study is the first report on the carrier frequency of the Leu444Pro mutant allele in an Indian population which will help understanding the burden and susceptibility of Gaucher disease to affect next generation in India