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5 articles for “consanguinity”
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Prevalence of Genetic Predisposition in Patients of Diabetes Mellitus Type-2
Abstract: Diabetes Mellitus Type-2 (DM-2) is a metabolic disease of dreaded consequences. Its prevalence is rising day by day in almost all countries, more so in developing countries. Faulty dietary habits, sedentary lifestyle, and stressors of day to day life are considered as important risk factors for the DM-2. Beside this genetic background also plays an important role towards the susceptibility of diabetes mellitus. In present study 166 diagnosed patients of …
Published in Journal of AYUSH: Ayurveda, Yoga, Unani, Siddha and Homeopathy · Vol. 1, Issue 1-3, 2012 · pp. 118–226 Read article
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Transforming Rare Disease Diagnosis with AI
Abstract: Artificial intelligence is changing healthcare fast. It is making diagnoses accurate, helping doctors get better results, and streamlining how care works. This paper looks at how AI shows up in healthcare right now – where it is already making a difference, what is working, and what is still tricky. The focus is on machine learning, natural language processing, and computer vision. Particular attention is given to using AI in diagnosing …
Published in Research and Reviews : Journal of Computational Biology · Vol. 15, Issue 1, 2026 · pp. 31–40 Read article
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Over Expression of Genes at Long Arm of 21 Chromosome in Case of Down Syndrome
Abstract: Down Syndrome (DS) is a genetic disorder which is caused due to trisomy at chromosome 21 or gene dosage imbalance. DS leads to mental retardation in humans. It is a multisystem disorder as it affects several systems of our body like cardiovascular, respiratory, gastrointestinal, neurological, hematopoietic and musculoskeletal system. The principal cause of DS is unknown yet. Some factors are responsible for DS. like reproduction at advanced maternal age, folic …
Published in Research and Reviews : A Journal of Immunology · Vol. 5, Issue 2, 2015 · pp. 27–34 Read article
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Severe Myoclonic Epilepsy with Crouch Gait in a 10-year-old Male Child: Single Case Report Study
Abstract: The aim of the present study was to characterize changes in gait dysfunction by patients with severe myoclonic epilepsy (SME). Case description with a 10-year-old male child presented with crouch gait, with signs of pyramidal tract involvement, ataxia, and seizures for 10 years duration. The child, born to non-consanguineously married parents presented with seizures. Birth history was normal; based on the history and examination, a clinical diagnosis of epileptic syndrome …
Published in Research and Reviews: A Journal of Medicine · Vol. 8, Issue 2, 2018 · pp. 1–5 Read article
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Audiological Profiling in identical Twins with Auditory Neuropathy Spectrum Disorder: A Case Report
Abstract: Congenital or late-onset auditory neuropathy spectrum disorder (ANSD) is a severe form of sensorineural hearing loss primarily affects speech perception. However, there are various etiologies, including birth-related risk factors such as prematurity, hyperbilirubinemia, a genetic infant admitted to neonatal intensive care unit (NICU), anoxia, congenital anomalies, consanguinity, and other infections. A genetic predisposition is likely to be the underlying causative factor in about 40% of cases. It can be inherited …
Published in Research and Reviews: A Journal of Neuroscience · Vol. 12, Issue 3, 2022 · pp. 25–29 Read article