Indian Journal of Genetics and Molecular Research

The efficacy of Autologous Platelet Rich Plasma (APRP) for adult thermal burns for better wound bed preparation. APRP is an increasingly popular adjunct in surgical, medical and aesthetic interventions. Their beneficial effects lie in their ability to deliver a high concentrate of growth factors. In our study APRP was utilised in a subject with adult thermal burns to evaluate the efficacy and mechanism of action of a non-invasive intervention approach using APRP

Disorders of sex development are congenital conditions where chromosomal, gonadal and anatomical sex of an individual is atypical. The sex of an individual is governed by chromosomal complement, which in turn decides the development of bi-pontential gonad and differentiation of external as well as internal genitalia into a definitive human sex either male or female. Though this is the general plan of sex development, most of the times in spite of being normal chromosomal complement, the gonadal and/ or genital sex is discordant leading to conditions known as disorders of sex development. Depending upon the chromosomal complement, these conditions are classified as (a) sex chromosome DSD (b) 46, XY DSD and (c) 46, XX DSD. Though most of the DSDs present at infancy with genital ambiguity and other clinical features, some of these conditions may not present or get recognized until adolescence and presenting as lack of pubertal development or primary amenorrhea. This leads to a social stigma to the patient as well as the family members and proper counselling and management of these cases can be improved by understanding the molecular pathology of these conditions. This review helps to understand the molecular genetics of 46, XY DSD in adolescent females who present as lack of puberty and primary amenorrhea.

Alzheimer’s disease (AD) is a neurodegenerative disorder and common form of dementia in elderly patients, accounting for 60 to 80 percent of cases worldwide. The hallmark of AD is deposition of neurofibrillary tangles and amyloid plaques in the brain that lead to neurotoxicity and irreversible loss of neurons in the hippocampus and cortex. Based on the onset of age, AD can be classified into early onset (<65 years) and late-onset (≥ 65 years) groups. Genetic factors such as gene mutation as well as environmental factors both can trigger the disease pathogenesis. The preliminary diagnosis can be performed based on the specific clinical symptoms and genetic analysis can help in establishing the familial cases. Treatments are suggested according to the stages of AD, such as mild, moderate, and severe, based on the clinical symptoms and the diagnosis of the patients.This review focuses on overall AD.