Vetrivel Chezian Sengodan

Abstract

Background: Club foot is a very common and serious birth defect affecting one of every 1000 live births. Substantial progress has been achieved in the management and diagnosis of limb defects; however, not much is known about the genetic basis underlying talipes equino varus disorder. This study was undertaken to find out the prevalence of single nucleotide polymorphisms in PITX1 gene that are associated with isolated clubfoot babies in Indian population. Materials and Methods: The study was done at Institute of Orthopaedics and Traumatology (IOT), Multidisciplinary Research Unit (MRU) Coimbatore Medical College and Hospital during the period of December 2019 to June 2020 after ethical committee clearance. Fifty isolated clubfoot babies were included in the study group of which 32 were male and 18 were female.23 babies had bilateral club foot, 18 had right sided and 9 had left sided club foot. Results: The Chr5:135031277 C>T type mutation is 2.26 times more likely to happen than the Chr5:135031290 C>T mutation group in Indian population. The z-statistics which tested the odds ratio is 1.992 which is significant as the probability is less than 0.05 (P=0.0463). Conclusion: A larger multicenteric study should be conducted in other regions of India to prepare more specific gene to be associated with club foot. We hope this study will encourage future studies and aid in improving the genetic knowledge of club foot in India. Keywords: Club foot, PITX1 gene, Single nucleotide polymorphism, Talipes equino varus.

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Abstract

Introduction and Objectives: Osteoporosis is one of the most common consequences of menopause and is characterized by low bone mass with micro architectural deterioration of bone tissue leading to bone fragility. Hip fracture is the worst complication of osteoporosis, with substantial morbidity and high one-year mortality.  Hence it is essential to identify post-menopausal women at risk of developing osteoporosis. Dual energy x-ray absorptiometry (DEXA) is a valuable tool for screening women prone to osteoporosis. The objective of the present work was to estimate the prevalence of low bone mass in low income Indian women above 40 years for the assessment of osteoporosis and fracture risk using DEXA scan. Materials and Methods: This study was conducted in Coimbatore from 2012-2017 with a sample size of 500 patients for the diagnosis of osteoporosis in low income group women from 40 to 70 years. Bone mineral density was done using DEXA Scan (Hologic) at lumbar spine and hip zones. Results: The prevalence of osteoporosis in our study by hip BMD score was 38% and osteopenia was 24% and by spine BMD score osteoporosis was 36% and osteopenia was 38%.  Overall, in the age group of between 41 and 65 years, the prevalence of osteopenia (36%) and osteoporosis (30%) together was 66%, which is higher than other developed countries. Conclusion: Risk of osteoporosis among women from the age of 40 years can be identified by DEXA scan method so that effective therapeutic measures can be initiated at the earliest. Keywords: DEXA, Osteoporosis, South India.

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