A5061487594- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Lysosomal Storage Disorders Research
- Folate and B Vitamins Research
- Genetics and Neurodevelopmental Disorders
- Biochemical and Molecular Research
- Stroke Rehabilitation and Recovery
- Congenital heart defects research
- Global Maternal and Child Health
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Maternal and Perinatal Health Interventions
- Intestinal Malrotation and Obstruction Disorders
- Birth, Development, and Health
- Reproductive Health and Contraception
- Child Nutrition and Feeding Issues
- Health Systems, Economic Evaluations, Quality of Life
- Glycogen Storage Diseases and Myoclonus
- Gestational Diabetes Research and Management
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Global Health Workforce Issues
- Renal and related cancers
- Mitochondrial Function and Pathology
- Infant Development and Preterm Care
All India Institute of Medical Sciences
2025
Era's Lucknow Medical College and Hospital
2019-2024
University of Michigan
2013-2024
Jawaharlal Nehru Medical College Hospital
2010-2024
Aligarh Muslim University
2010-2024
University of Lahore
2021-2024
Superior University
2024
Michigan United
2024
Air University
2023
WinnMed
2021
Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who phenotypically related CNS and in some cases urinary tract defects, also haploinsufficiency for NFIA transcription factor gene due to chromosomal translocation or deletion. Two have balanced translocations that disrupt NFIA. A third individual two half-siblings an...
ObjectiveTo evaluate the impact of sodium benzoate and dextromethorphan treatment on patients with attenuated form nonketotic hyperglycinemia.Study designFamilies were recruited 2 siblings both affected hyperglycinemia. Genetic mutations expressed to identify residual activity. The outcome developmental progress seizures was compared between first child diagnosed treated late second at birth aggressively from newborn period using dosing sufficient normalize plasma glycine levels. Both...
Abstract Antenatal Care Bundle” presents evidence-based antenatal care interventions aimed at reducing stillbirths, developed by the Stillbirth Society of India. The are designed to complement WHO recommendations, focusing on risk assessment, maternal and fetal monitoring, management growth restriction, particularly in low-resource settings. They intended be adopted all practitioners provide standard every pregnant woman for optimal outcomes. Each section this bundle has undergone extensive...
Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) heparan (HS) are both substrates α-l-iduronidase (IDUA). These GAGs elevated patients with MPS have been shown be promising biomarkers primary second-tier testing. Since February 2016, we measured DS HS 1213 specimens submitted on...
Abstract The 4q deletion syndrome is a rare chromosome with wide range of clinical phenotypes. There limited phenotype and molecular correlation for congenital heart defects (CHDs) reported so far this region primarily because many cases are large deletions, often terminal, high‐resolution array has not been in the evaluation group patients. CHDs about 60% patients syndrome, occurring presence or absence dHAND deletion, implying existence additional genes whose dosage influences cardiac...
PurposeIsobutyryl-CoA dehydrogenase deficiency is a defect in valine metabolism and was first reported child with cardiomyopathy, anemia, secondary carnitine deficiency. We identified 13 isobutyryl-CoA dehydrogenase–deficient patients through newborn screening due to an elevation of C4-acylcarnitine dried blood spots. Because represents both isobutyryl- butyrylcarnitine, elevations are not specific for but also observed short-chain acyl-CoA To delineate the correct diagnosis, we have...
Abstract Introduction: Gestational diabetes mellitus (GDM) is defined as diagnosed in the second or third trimester of pregnancy that was not clearly overt before gestation. Unrecognized and untreated GDM confers significantly greater maternal fetal risk, which largely related to degree hyperglycemia. The specific risks include but are limited to, spontaneous abortion, pre-eclampsia, anomalies, macrosomia, neonatal hypoglycemia, hyperbilirubinemia, respiratory distress syndrome....
The combined phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heterozygous mutation, i.e., p.Tyr64Cys CDC42, signifies clinically recognizable novel syndrome that has been eponymized as "Takenouchi-Kosaki syndrome" (OMIM #616737). In the present study, detailed phenotypic analysis performed for total five Takenouchi-Kosaki revealed disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities sensorineural deafness,...
The objective of this study was to evaluate the cost-effectiveness newborn screening and treatment for phenylketonuria (PKU) in context new data on adherence recommended diet a newly available drug (sapropterin dihydrochloride). A computer simulation model developed project outcomes hypothetical cohort newborns with PKU. Four strategies were compared: (1) clinical identification (CI) treatment; (2) (NBS) (3) CI medication dihydrochloride); (4) NBS medication. Data sources included published...
Measurement of health utilities is required for economic evaluations. Few studies have evaluated rare conditions; even fewer incorporated disutility that may be experienced by caregivers. This study aimed to (1) estimate three conditions currently recommended newborn screening at the state or federal level, and (2) disutility, spillover, parents patients diagnosed with a rare, heritable disorder. A stated-preference survey using time trade-off approach elicited Krabbe disease,...
Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 2016, respectively. These conditions are being screened with variable practice terms of primary reflex analytes (either biochemical or molecular testing) as well collection short- long-term follow-up elements. The goal this study is evaluate practices state health departments regards methods data...
Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD) type III, is caused by the deficiency of E3 subunit branched chain alpha-ketoacid (BCKDH), α-ketoglutarate (αKGDH), and pyruvate (PDH). DLD variably presents with either a severe neonatal encephalopathic phenotype or primarily hepatic phenotype. As variant form MSUD, it considered core condition recommended for newborn screening. The detection MSUD forms has proven difficult in past no asymptomatic...