Search Results - "Shenoy, Rathika D"
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Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children
Published in Indian journal of pediatrics (01-02-2024)“…Progressive encephalopathy with brain edema and/or leukoencephalopathy type 1 (PEBEL1) is a nuclear mitochondrial disorder involving the NAD(P)HX repair…”
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2
Exome Sequencing in Monogenic Forms of Rickets
Published in Indian journal of pediatrics (01-12-2023)“…Objective To understand the phenotypic and genotypic spectrum of genetic forms of rickets in 10 families. Methods Detailed clinical, radiographic, and…”
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3
Acute Bacterial Meningitis and Petrous Apicitis in a Child with Aplasia Cutis Congenita: A Case Report
Published in Journal of International Advanced Otology (01-07-2023)“…A review on postoperative day 15 and day 30 showed an intact tympanic membrane with a normal appearance. The dilemma in the case management was due to the…”
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Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India
Published in The Cleft palate-craniofacial journal (01-11-2022)“…Objective Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the…”
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Serum miRNA-30a-5p in Steroid Sensitive Idiopathic Nephrotic Syndrome in Indian Children: A Case-control Study
Published in Journal of clinical and diagnostic research (01-03-2023)“…Introduction: Childhood Nephrotic Syndrome (NS) is a podocytopathy. Micro Ribonucleic Acid (miRNA), composed of 21-25 non coding nucleotides, regulates gene…”
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Smokeless tobacco exposure and fetal iron status: An analytical study
Published in Indian journal of community medicine (01-01-2022)“…Objectives: To compare the cord serum ferritin and fetal iron status in newborns with and without maternal occupational smokeless tobacco exposure and…”
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Antimicrobial susceptibility, risk factors and prevalence of bla cefotaximase, temoneira, and sulfhydryl variable genes among Escherichia coli in community-acquired pediatric urinary tract infection
Published in Journal of laboratory physicians (01-07-2017)“…Abstract INTRODUCTION: The emergence of extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli has become an important challenge among pediatric…”
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Tissue plasminogen activator receptor ANXA2 and its complementary regulator anti-inflammatory ANXA1 as prognostic indicators of inflammatory response in COVID-19 pathogenesis
Published in Immunobiology (1979) (01-09-2023)“…COVID-19 patients demonstrating hyperactive immunologic response appear to have a severe illness with a poor prognosis. This study hypothesizes that the…”
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Maternal Occupational Tobacco Exposure and Newborn Umbilical Cord Serum Leptin Concentration
Published in Indian pediatrics (01-10-2020)“…Objective To assess the effect of maternal occupational tobacco handling ( bidi rolling) on cord serum leptin levels. Methods We enrolled 64 neonates born to…”
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TRANSIENT MYELOPROLIFERATIVE DISORDER AND EOSINOPHILIC PERICARDIAL EFFUSION IN A DOWN SYNDROME NEONATE
Published in Pediatric hematology and oncology (01-01-2008)“…Transient myeloproliferative disorder seen in neonates with Down syndrome is often thought to have a benign course. The authors describe the clinical and…”
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Fatty Acid Oxidation Disorder with Secondary Mitochondrial Energy Production Defect: A Case Report
Published in Indian journal of clinical biochemistry (01-10-2014)“…The presentation of long-chain fatty acid oxidation disorders (FAOD), unlike short and medium-chain disorders can be with secondary defects in mitochondrial…”
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12
Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant
Published in Indian journal of dermatology (01-11-2016)“…Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male…”
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Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia
Published in Indian journal of clinical biochemistry (01-01-2013)“…Propionic acidemia (PA), an uncommon organic acidemia has varied clinical and metabolic presentation causing difficulty and delay in the diagnosis. We report a…”
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Juvenile spondyloarthritis with microscopic colitis
Published in Indian pediatrics (01-07-2012)“…We report an adolescent girl with long standing spondyloarthritis and chronic diarrhea. Colonoscopy and biopsy revealed microscopic colitis. All serology and…”
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15
Mediastinal enteric cyst in a neonate
Published in Journal of clinical neonatology (01-07-2012)“…Mediastinal enteric cysts are relatively uncommon, and patients tend to present at a later age compared to those with duplications in other areas of alimentary…”
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Maternal and neonatal iodine status in Dakshina Kannada district of Karnataka, India
Published in Sudanese journal of paediatrics (2020)“…This study was designed to assess iodine status of mother-fetus dyad by estimation of spot urine iodine concentration (UIC) in the study district. It is a…”
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SIADH complicating deep neck abscess in infancy
Published in International journal of pediatric otorhinolaryngology (01-08-2005)“…Symptomatic hyponatremia due to syndrome of inappropriate secretion of anti-diuretic hormone (SIADH) in infancy is seen usually with pneumonia and meningitis…”
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Focal Dermal Hypoplasia with a De novo Mutation p.E300 of PORCN Gene in a Male Infant
Published in Indian journal of dermatology (01-11-2016)“…Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male…”
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19
Thrombocytopenia in Hepatitis A—An Atypical Presentation
Published in Journal of tropical pediatrics (1980) (01-08-2004)“…Acute hepatitis due to hepatitis A virus (HAV) is usually a benign self-limiting disease during childhood. Autoimmune manifestations are rare with acute HAV,…”
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Biochemical basis of heterogeneity in acute presentations of propionic acidemia
Published in Indian journal of clinical biochemistry : IJCB (01-01-2013)Get full text
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