Akila Prashant
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View article: Redefining rare disease care in India: the expanding role of genetic counselling and technology
Redefining rare disease care in India: the expanding role of genetic counselling and technology Open
Rare diseases affect an estimated 350 million people worldwide, over 80% of which have a genetic basis. In India, diverse genetic backgrounds, high consanguinity and uneven access to healthcare complicate diagnosis and management. This rev…
View article: Impact of <i>UGT1A6</i> SNPs on valproic acid pharmacokinetics: a study on dose-normalised serum concentrations in Indian patients with epilepsy
Impact of <i>UGT1A6</i> SNPs on valproic acid pharmacokinetics: a study on dose-normalised serum concentrations in Indian patients with epilepsy Open
Introduction Valproic acid (VPA) exhibits substantial interindividual variability in serum levels due to genetic and non-genetic influences. Among the major metabolic pathways, glucuronidation via UGT1A6 is genetically polymorphic, but its…
View article: Association of Clinical Factors, IL4, and IL17 Levels with the Development of Postherpetic Neuralgia: A Prospective Study Among Patients with Herpes Zoster from India
Association of Clinical Factors, IL4, and IL17 Levels with the Development of Postherpetic Neuralgia: A Prospective Study Among Patients with Herpes Zoster from India Open
Background: The incidence of postherpetic neuralgia (PHN) is highly variable due to the lack of a uniform definition of PHN and differing views on its severity. Most of the studies on risk factors for PHN are retrospective, and pain severi…
View article: Association of PPARG gene variants with obesity in South Indian young adults: a cross-sectional study
Association of PPARG gene variants with obesity in South Indian young adults: a cross-sectional study Open
Introduction Peroxisome proliferator-activated receptor gamma (PPARG) gene polymorphisms, particularly rs1801282 (Pro12Ala) and rs3856806 (C161T), have been implicated in obesity, but findings remain inconsistent across populations. This s…
View article: Whole-genome sequencing and bioinformatic tools powered by machine learning to identify antibiotic-resistant genes and virulence factors in Escherichia coli from sepsis
Whole-genome sequencing and bioinformatic tools powered by machine learning to identify antibiotic-resistant genes and virulence factors in Escherichia coli from sepsis Open
Extended-spectrum β -lactamase-producing Escherichia coli poses a global public health threat. Here, we performed a hospital-based study that reinforced the necessity for rapid antimicrobial resistance (AMR) and virulence gene mapping of c…
View article: Exploring Long Non-Coding RNAs as Therapeutic Targets for Foetal Haemoglobin Induction in β-Thalassaemia
Exploring Long Non-Coding RNAs as Therapeutic Targets for Foetal Haemoglobin Induction in β-Thalassaemia Open
Foetal haemoglobin (HbF) induction is a promising therapeutic strategy for mitigating the clinical severity of β-thalassaemia. However, a limited understanding of globin gene regulation has impeded its progress. Recently, Long non-coding R…
View article: The Role of Twisted Gastrulation 1 (TWSG1) Gene in TGF-β Signaling Linked to Cancer: A Comprehensive Review
The Role of Twisted Gastrulation 1 (TWSG1) Gene in TGF-β Signaling Linked to Cancer: A Comprehensive Review Open
TWSG1 plays a complex role in TGF-β signaling that varies with the type of cancer and the surrounding environment. Targeting TWSG1, either alone or alongside TGF-β inhibitors, could offer new avenues for treating cancers driven by TGF-β si…
View article: Revolutionizing DNA Extraction: A Cost-Effective Approach for Genomic DNA Retrieval from Dried Blood Spots.
Revolutionizing DNA Extraction: A Cost-Effective Approach for Genomic DNA Retrieval from Dried Blood Spots. Open
Refined phenol-based method that offers cost-effective means of extracting genomic DNA from dried blood spots on filter paper.Key attributes of this approach include its simplicity and use of PCI (25:24:1) reagent for superior DNA yield.A …
View article: Evaluating the Prophylactic and Nephroprotective Effects of Vitamin D and Metformin in Diabetic Nephropathy
Evaluating the Prophylactic and Nephroprotective Effects of Vitamin D and Metformin in Diabetic Nephropathy Open
Introduction: Diabetic nephropathy (DN), a major complication of diabetes mellitus (DM) and a leading cause of end‐stage renal disease (ESRD) globally, is characterized by oxidative stress (OS), chronic inflammation, and progressive fibros…
View article: Role of Early Clinical Exposure in Medical Education: Effectiveness of Its Transition from Onsite to Online Sessions during the Pandemic
Role of Early Clinical Exposure in Medical Education: Effectiveness of Its Transition from Onsite to Online Sessions during the Pandemic Open
Introduction: We implemented online early clinical exposure (ECE) for medical undergraduate students during the pandemic and analyzed their feedback to assess the effectiveness of the session. Materials and methods: An online ECE on “Inbor…
View article: Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital
Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital Open
Introduction Newborn screening (NBS) is an essential public health initiative for early diagnosis of inborn errors of metabolism (IEM), where timely intervention can reduce morbidity and mortality. While routine in developed countries, NBS…
View article: PvuII-ESR1 gene polymorphism in premenstrual dysphoric disorder in South Indian women
PvuII-ESR1 gene polymorphism in premenstrual dysphoric disorder in South Indian women Open
Background: Premenstrual dysphoric disorder (PMDD) is a condition that affects nearly 3–9% of the women in the reproductive age during the luteal phase of each menstrual cycle characterized by symptoms varying in severity and affecting the…
View article: Unveiling Silent Consequences: Impact of Pulmonary Tuberculosis on Lung Health and Functional Wellbeing after Treatment
Unveiling Silent Consequences: Impact of Pulmonary Tuberculosis on Lung Health and Functional Wellbeing after Treatment Open
Background: Pulmonary tuberculosis (TB) remains a major public health issue in India, with high incidence and mortality. The current literature on post-TB sequelae functional defects focuses heavily on spirometry, with conflicting obstruct…
View article: Molecular and Biochemical Therapeutic Strategies for Duchenne Muscular Dystrophy
Molecular and Biochemical Therapeutic Strategies for Duchenne Muscular Dystrophy Open
Significant progress has been achieved in understanding Duchenne muscular dystrophy (DMD) mechanisms and developing treatments to slow disease progression. This review article thoroughly assesses primary and secondary DMD therapies, focusi…
View article: Inflammation, muscle health and aging: Calf circumference as a cost-effective diagnostic indicator of Sarcopenia
Inflammation, muscle health and aging: Calf circumference as a cost-effective diagnostic indicator of Sarcopenia Open
Background: This study aims to investigate the levels of interleukin6(IL6), interleukin 10(IL10), the IL6:IL10 ratio, and various anthropometric measurements in different stages of sarcopenia among older individuals. Methodology: Conducted…
View article: Unveiling the Significance of Surrogate Markers of Insulin Resistance in Metabolic Health Assessment
Unveiling the Significance of Surrogate Markers of Insulin Resistance in Metabolic Health Assessment Open
Recent years have evidenced an alarming increase in the incidence of diabetes mellitus (DM) and other metabolic disorders. Rapid urbanization and lifestyle changes have been the major factors for this increase. Early diagnosis is the key t…
View article: Progression-free survival estimation of docetaxel-based second-line treatment for advanced non-small cell lung cancer: a pooled analysis from 18 randomized control trials
Progression-free survival estimation of docetaxel-based second-line treatment for advanced non-small cell lung cancer: a pooled analysis from 18 randomized control trials Open
Background Lung cancer is the foremost cause of cancer-related death globally, with non-small cell lung cancer (NSCLC) accounting for 85–90% of cases. Targeted therapy is the most essential therapeutic option for NSCLC, other common treatm…
View article: Dissecting microRNA-regulated networks in hepatocellular carcinoma cell subtypes with different mutational profiles: Evidence from in vitro and in silico studies
Dissecting microRNA-regulated networks in hepatocellular carcinoma cell subtypes with different mutational profiles: Evidence from in vitro and in silico studies Open
Hepatocellular carcinoma (HCC) is a carcinoma of epithelial origin. While there are several factors, specific genetic and epigenetic landscapes define the initiation and progression of HCC. Genetic mutations, particularly missense mutation…
View article: Navigating the Frontiers: Unveiling the Vision and Mission of the Indian Journal of Medical Biochemistry
Navigating the Frontiers: Unveiling the Vision and Mission of the Indian Journal of Medical Biochemistry Open
I am deeply honored and humbled to extend my heartfelt gratitude to the esteemed association for entrusting me with the responsibility of serving as the Editor-in-Chief for the Indian Journal of Medical Biochemistry (IJMB).It is with great…
View article: Stem Cells in Solid Tumors: Accumulated Evidence and Future Directions
Stem Cells in Solid Tumors: Accumulated Evidence and Future Directions Open
Cancer stands as a leading global cause of human mortality, predominantly driven by solid tumors that can ravage vital organs. The scientific community has made significant strides in comprehending the molecular and cellular underpinnings …
View article: Exploring the Impact of Iron Overload on Mitochondrial DNA in β-Thalassemia: A Comprehensive Review
Exploring the Impact of Iron Overload on Mitochondrial DNA in β-Thalassemia: A Comprehensive Review Open
Iron overload is a significant complication commonly observed in individuals with β-thalassemia, resulting from enhanced iron absorption due to ineffective erythropoiesis and frequent blood transfusions. Iron overload can lead to severe ti…
View article: Inflammaging in Multidrug-Resistant Sepsis of Geriatric ICU Patients and Healthcare Challenges
Inflammaging in Multidrug-Resistant Sepsis of Geriatric ICU Patients and Healthcare Challenges Open
Multidrug-resistant sepsis (MDR) is a pressing concern in intensive care unit (ICU) settings, specifically among geriatric patients who experience age-related immune system changes and comorbidities. The aim of this review is to explore th…
View article: Investigating Differences in Bicarbonate Levels: Exploring Discrepancies between Venous and Arterial Measurements and Evaluating Stability through Time-point Assessments
Investigating Differences in Bicarbonate Levels: Exploring Discrepancies between Venous and Arterial Measurements and Evaluating Stability through Time-point Assessments Open
Introduction: Evaluation of acid-base status is crucial in critical care settings, with bicarbonate serving as a key indicator of electrolyte distribution and anion deficit. This study explored the challenges and uncertainties surrounding …