A5027987278- Sexual Differentiation and Disorders
- Urological Disorders and Treatments
- Diabetes and associated disorders
- Protein Degradation and Inhibitors
- Birth, Development, and Health
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Growth Hormone and Insulin-like Growth Factors
- Urologic and reproductive health conditions
- Obesity, Physical Activity, Diet
- Thyroid Disorders and Treatments
- Child Nutrition and Water Access
- Metabolism and Genetic Disorders
- Diabetes Management and Research
- Adrenal Hormones and Disorders
- Congenital Diaphragmatic Hernia Studies
- Multiple Myeloma Research and Treatments
- Hypothalamic control of reproductive hormones
- Phagocytosis and Immune Regulation
- Vascular anomalies and interventions
- Inflammasome and immune disorders
- Oral Health Pathology and Treatment
- Gastrointestinal disorders and treatments
- Intestinal and Peritoneal Adhesions
- Intestinal Malrotation and Obstruction Disorders
- Delphi Technique in Research
Bharati Vidyapeeth Deemed University
2016-2025
Marymount University
2019
Resverlogix (Canada)
2017
Gandhi Medical College & Hospital
2012
Familial glucocorticoid deficiency disorders are a group of autosomal recessive with variable phenotypes. Early diagnosis aids effective treatment. This case discusses couple who had come history neonatal deaths and spontaneous abortion for genetic counselling regarding the current pregnancy. On obtaining relevant family antenatal history, targeted testing showed that fetus homozygous melanocortin-2 receptor ( MC2R ) gene mutation. Subsequently, baby was delivered late preterm,...
Summary Background Studies assessing the relationship of BMI and BF with cardiometabolic (CM) risks in Indian children are scarce. Objective To assess occurrence risk factors adolescents relation to body fat study their association distribution. Methods 286 (mean age 11.2 ± 2.6 years, 139 boys) were recruited from routine health checks schools. Anthropometry blood pressure recorded, total (BF) distribution (android gynoid) measured by Dual Energy X‐ray Absorptiometry. Fasting plasma glucose,...
Context: Gonadotrophin releasing hormone (GnRH) stimulation test is pivotal in the assessment of children with pubertal disorders. However, lack availability and high cost often result falling into disfavor. We routinely use GnRH analogue as an alternative at our center. Aim: To present data on endocrine disorders who underwent agonist pediatric clinic a tertiary care referral hospital. Setting Design: Pediatric Retrospective analysis case records. Materials Methods: The details pertaining...
Juvenile granulosa cell tumor (JGCT) is a rare neoplasm of childhood. Interestingly, it known to be associated with Ollier disease, which bone disease characterized by multiple enchondromatosis. There paucity literature about the co-occurence these two conditions. However, this association noteworthy because conditions share common pathogenesis. We report case JGCT in 2.5-year-old female child enchondromas mimicking bony metastasis were an incidental finding during routine workup for...
To present the clinical profile, diagnostic work-up, and management of children with Disorders Sexual Development (DSD).A retrospective study from a tertiary pediatric endocrine unit western India. We included 39 patients who presented over period 9 years June 2009 to 2018.Nineteen (48.7%) were diagnosed 46 XY DSD, 16 (41%) XX 4 (10.3%) sex chromosomal DSD. Out androgen insensitivity was observed in 8 (42.1%) patients, 5 alpha-reductase deficiency (26.3%), gonadal dysgenesis 3 (15.8%),...
<h3>Objectives</h3> Central line associated bloodstream infections (CLABSIs) are a major hospital acquired infection (HAI) leading to an increase in morbidity and mortality, as well economic burden pediatric patients.<sup>1 2</sup> The incidence, risk factors, microbiological profile antimicrobial resistance the PICU may differ from that of HO unit, warranting need for studies our Indian population, limited data exists. objective is compare CLABSIs children admitted with terms sensitivity...
Introduction Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by 21-hydroxylase enzyme deficiency, impairing cortisol synthesis and resulting in elevated androgen levels. CAH presents two classical forms: salt-wasting (SW) simple virilizing (SV). Although rare India, regional variations the absence of a national newborn screening (NBS) program pose significant challenges to accurate diagnosis. This study aimed assess incidence population evaluate...
Intussusception in children is mainly idiopathic or due to a viral aetiology. Occasionally, pathological lead points like Meckel diverticulum rarely metabolic causes hyperglycaemia can result formation of an intussusception. We describe the case boy with diabetic ketoacidosis presenting abdominal pain. Despite correction acidosis, gastrointestinal symptoms persisted for which ultrasonography abdomen was performed. It revealed ileo-ileal intussusception, confirmed by CT scan. He underwent...
Thiamine-responsive megaloblastic anemia (TRMA) also known as Rogers syndrome is a rare autosomal recessive disorder characterized by anemia, diabetes mellitus, and progressive sensorineural deafness. The disease can be manifested anytime between infancy adolescence, all the cardinal findings may not present at time of diagnosis. main defect lies in active thiamine uptake into cells which disturbed. Not many cases have been reported about long-term follow-up children with this their...
Abstract Objectives Pubertal assessment is crucial as puberty the transition from childhood to adulthood. assessment, growth, and secular trend in need be explored further India. The objectives were assess Sexual Maturity Rating (SMR) among children establish normative data of western We also compared age attainment various stages with BMI menarche. Methods A cross-sectional observational study was undertaken at a tertiary care pediatric center. population healthy girls boys between 6 18...
Abstract More than 200,000 women are diagnosed with breast cancer every year in the United States. About 80% of these cases estrogen receptor positive (ER+), which is characterized by up-regulation ER signaling and downstream activation cyclin-dependent kinases CDK4/6 cyclin D1 (CCND1). Current lines therapies include either endocrine or inhibitors, have resulted great improvement treatment ER+ cancer. As expected, resistance to occurs over time development additional therapeutic strategies...
Growth is an important biological process by which individual reaches a point of complete physical development. monitoring child very utility to detect the deviation from normal growth. In India, for children below 2 years age WHO multicentre growth reference study (MGRS) 2006 charts are being used monitoring, were prepared measuring six different countries who raised in optimum conditions health and nutrition.This was carried out verify appropriateness MRGS monitor Indian age.The tertiary...
Ataxia-telangiectasia (AT) is an autosomal recessive, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, immunodeficiency and propensity for recurrent sinopulmonary infections. The primary defect mutation of ATM gene leading to defective signal transduction in case DNA damage. authors here report a 13 year old girl having 46 XX karyotype negative SRY with severe failure thrive, spasticity, bulbar telangiectasia, clitoromegaly gonadal dysgenesis. Child...