A5050641710- Metabolism and Genetic Disorders
- Neonatal Respiratory Health Research
- Kawasaki Disease and Coronary Complications
- Congenital Diaphragmatic Hernia Studies
- Mitochondrial Function and Pathology
- Neonatal and fetal brain pathology
- Urological Disorders and Treatments
- COVID-19 Clinical Research Studies
- Birth, Development, and Health
- Cleft Lip and Palate Research
- Pediatric Urology and Nephrology Studies
- Neonatal Health and Biochemistry
- Gastroesophageal reflux and treatments
- Inflammasome and immune disorders
- Connective tissue disorders research
- Retinopathy of Prematurity Studies
- Galectins and Cancer Biology
- Urinary Tract Infections Management
- Thyroid Disorders and Treatments
- Tracheal and airway disorders
- Crystallization and Solubility Studies
- Eosinophilic Disorders and Syndromes
- X-ray Diffraction in Crystallography
- RNA regulation and disease
- Non-Invasive Vital Sign Monitoring
American University of Antigua
2024-2025
K S Hegde Medical Academy
2013-2024
Nitte University
2012-2023
Tata Memorial Hospital
2019
Kasturba Medical College, Manipal
2004-2015
Kasturba Medical College, Mangalore
2004-2015
Imperial College London
2010
Charing Cross Hospital
2010
National Institute of Occupational Health
2003
Indian Council of Medical Research
2003
There is experimental evidence of adverse effects endosulfan on the male reproductive system, but there are no human data. Therefore, we undertook a study to examine relationship between environmental exposure and development in children adolescents. The population was composed 117 schoolchildren (10-19 years age) village situated at foothills cashew plantations, where had been aerially sprayed for more than 20 years, 90 comparable controls with such history. parameters included recording...
Endoscopic third ventriculostomy (ETV) is a procedure of choice in the treatment obstructive hydrocephalus. Neurovascular injury while perforating ventricular floor can occur when using conventional probe, especially patients with thick and opaque ventricle floor. The water jet dissection technique be useful such cases to perform an initial perforation.The was used ETV 36 hydrocephalus over 3-year period. A generated syringe connected 2-mm catheter.The successfully created patent stoma 31...
Abstract Objective To understand the phenotypic and genotypic spectrum of genetic forms rickets in 10 families. Methods Detailed clinical, radiographic, biochemical evaluation families with phenotypes suggestive a cause was performed. Molecular testing using exome sequencing aided diagnosis six different known causes. Results Eleven disease-causing variants including five previously reported ( CYP27B1 :c.1319_1325dup, p.(Phe443Profs*24), VDR :c.1171C>T, p.(Arg391Cys), PHEX :...
Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis. Chromosomal microarray (CMA) performed for three one Mendeliome sequencing used 11 all Whole exome (WES) 80 diagnostic 52 (65%). Singleton WES 50/75 (66.67%) Overall, diagnoses...
The location and/or type of variants in FLNB result a spectrum osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal such as atelosteogenesis I III Boomerang dysplasia. Spondylocarpotarsal is characterized by disproportionate short stature, vertebral anomalies fusion carpal tarsal bones. Biallelic loss‐of‐function are known cause 9 families pathogenic have been reported so far. We report clinical features...
Transient myeloproliferative disorder seen in neonates with Down syndrome is often thought to have a benign course. The authors describe the clinical and laboratory profile of neonate phenotype transient pericardial effusion as co-morbidity. Pericardial fluid analysis showed eosinophils. resolved prednisolone therapy. Regression hepatosplenomegaly clearance blasts was by third week illness. course suggested infiltration pericardium. Presence eosinophils supports differentiating capability...
Background: Pseudomonas aeruginosa is an opportunistic pathogen that develops life-threatening infections in patients with immunological system defects like burn patients. P. naturally resistant as well able to get acquired resistance effective antibiotics which lead problematic conditions. This study was designed isolate from and evaluate drug susceptibility for determination of multidrug-resistant isolates . Materials Methods: A prospective carried out on the visiting Victoria Hospital,...
Background:Assessment of fetal malnutrition (FM) is incomplete by intra uterine growth (IUG) charts where only single anthropometric measure like weight used. Body mass index (BMI) a to length ratio which sensitive indicator malnutrition. This study was aimed at comparing the accuracy various birth based IUG with new-born babies in detection FM and correlating neonatal complications BMI weight. Methods: A cohort done sample 1192 newborn gestational ages from 34 40 weeks. The newborns were...
Introduction: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors Metabolism (IEM) in India.With prompt recognition management, better survival but adverse neurodevelopmental outcome is reported. Aim:To study the clinical metabolic presentation, management with immediate long term symptomatic children OA. Materials Methods: Hospital based diagnosed to have OA 2003 2009 survivors followed up over next five years.Diagnosis was on presentation by spectrometry analyses...
Background: Imbalance in oxidative state has been hypothesized as causative factor renal injury. Oxidant stress can result DNA damage which be measured by comet assay. The aim of the study was to assess and children with NS. Methods: Children NS during first episode/relapse remission were recruited. Blood malondialdehyde (MDA), reduced-glutathione (GSH) superoxide dismutase (SOD) levels done compared controls. assessed Percentage tail, tail length olive moment (OTM) calculated. Comparison...
Objective Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India. Design The study case series. Setting was an international collaborative involving tertiary clinic medical genetics unit. Patients, Participants participants were 9 families with 17 affected individuals facial dysostosis. Intervention Exome analysis focused on known genes associated...
Dieulafoy’s lesion is a rare cause of massive upper gastrointestinal haemorrhage in any age. It predominantly occurs the proximal stomach. We report on child who presented with rectal and clear nasogastric aspirate due toduodenal lesion.
 Keywords: aspirate; hematemesis; haemorrhage; vascular malformation
Measles disease is usually diagnosed through an RT-PCR test, which detects the measles-specific IgM antibody in serum samples. However, this approach highly expensive and requires a lot of sample preprocessing making it laborious task. Another for measles identification could be cytological smear test – low-cost, quick, accurate method early detection disease. Due to lack experience interpreting smears, its usage clinical practice currently limited. We have designed MesoSpot, automatic...
Necrotizing fasciitis is a bacterial infection of the soft tissues with fulminant course and high mortality rate. It rare in children early recognition aggressive treatment can help improving survival these cases. During study period 12 mean age 35 months developed necrotizing fasciitis. Common initiating factors observed were varicella minor injury. The trunk was most common site involvement. Tissue culture positive 10 cases, which three polymicrobial. Blood cultures <i>Staphylococcus...