Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add filters








Language
Year range
1.
Article | IMSEAR | ID: sea-220831

ABSTRACT

Introduction: The Indian population experiencing rapid ageing. By 2050, elderly would be 19.5% of the total population. The increasing elderly in society brings with new social problems having tremendous health impact. Elder abuse is a serious but neglected social problem that has adverse consequence on health. Objective: To measure the prevalence of elder abuse and to determine associated factors of elder abuse. Method: A community based cross sectional study was conducted among elderly population aged 60 years and above in the Piparia village of Vadodara district. A sample of 126 study participants were interviewed to collect data on prevalence of abuse and associated factors leading to abuse. Descriptive and inferential statistics were applied to draw conclusion from collected data. Prevalence of elder abuse was foundResults: to be 28.57%. Emotional abuse was the commonest type of abuse reported. Socio economic status, family type, Tobacco use (Smoke and smokeless) were found to be significantly associated with elder abuse. Conclusion: Elder abuse is prevalent in rural Gujarat. Further evidence is needed to assess the magnitude of the problem and the type of intervention necessary to resolve it.

2.
Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 437-442
Article in English | IMSEAR | ID: sea-156610

ABSTRACT

BACKGROUND: Determination of sex is the result of cascade of molecular events that cause undifferentiated bipotential gonad to develop as a testis or an ovary. A series of genes such as SRY, steroidogenic factor‑1 (SF1), AR, SRD5 α, Desert hedgehog (DHH) etc., have been reported to have a significant role in development of sex in the fetus and secondary sexual characteristics at the time of puberty. Recently, mitogen activated protein kinase kinase kinase 1 (MAP3K1) gene was found to be associated with 46, XY disorders of sex development (DSD). AIM: The present study is focused to identify mutations in MAP3K1 gene in the cohort of 10 Indian patients with 46,XY DSD including one family with two affected sisters. These patients were already screened for SRY, SF1 and DHH gene, but no mutation was observed in any of these genes. MATERIALS AND METHODS: The entire coding regions of MAP3K1 were amplified and sequenced using the gene specific primers. RESULTS AND DISCUSSIONS: Sequence analysis of MAP3K1 gene has revealed four variants including one missense, two silent and one deletion mutation. The missense mutation p.D806N was observed in four patients with hypospadias. Two patients showed the presence of silent mutation p.Q1028Q present in exon 14. Another silent mutation p.T428T was observed in a patient with gonadal dysgenesis. We have also observed one deletion mutation p. 942insT present in two patients. The pathogenicity of the missense mutation p.D806N was carried out using in‑silico approach. Sequence homology analysis has revealed that the aspartate at 806 was found to be well‑conserved across species, indicated the importance of this residue. The score for polyphen analysis of this mutation was found to be 0.999 indicating to be pathogenic mutation. Since, p.D806N mutation was found to be important residue; it might contribute to sexual development. We have reported the presence of mutations/polymorphism in MAP3K1 gene. All the mutations were found to be polymorphism upon comparing to single nucleotide polymorphism database. However, in‑silico analysis of the missense mutation revealed to be a pathogenic mutation.


Subject(s)
Disorder of Sex Development, 46,XY/genetics , Female , Humans , India , MAP Kinase Kinase Kinase 1/chemistry , MAP Kinase Kinase Kinase 1/genetics , MAP Kinase Kinase Kinase 1/metabolism , Male , Mutation , Polymorphism, Genetic/genetics , Siblings
SELECTION OF CITATIONS
SEARCH DETAIL