Balram Gangaram
A5072448698- Pediatric Pain Management Techniques
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Biochemical and Molecular Research
- Intramuscular injections and effects
- Congenital heart defects research
- Cardiac Arrest and Resuscitation
- Genomics and Rare Diseases
- Bone and Dental Protein Studies
- Protease and Inhibitor Mechanisms
- Epigenetics and DNA Methylation
- Genetic and Kidney Cyst Diseases
- Cancer-related Molecular Pathways
- Cancer-related gene regulation
- TGF-β signaling in diseases
- Renal and related cancers
- Infant Health and Development
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Infant Development and Preterm Care
- Tracheal and airway disorders
- Congenital Heart Disease Studies
- Cancer, Hypoxia, and Metabolism
- Hedgehog Signaling Pathway Studies
University of California, San Francisco
2021-2024
Children's Hospital Central California
2023
University of Hawaiʻi at Mānoa
2006-2009
University of Hawaii System
2006
Kapiolani Medical Center for Women and Children
2006
Abstract Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized intellectual disability hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical molecular spectrum diverse populations, identify physical features that may be more prevalent White versus Black Indigenous People Color individuals, delineate genotype–phenotype...
Distraction has been shown to be an effective technique for managing pain in children; however, few investigations have examined the utility of this with infants. The goal current study was investigate effectiveness movie distraction reducing infants' immunization distress. Participants were 136 infants (range=1-21 months; M=7.6 months, SD=5.0 months) and their parents, all whom recruited when presenting routine vaccinations. parent-child dyads randomly assigned either a or Typical Care...
The purpose of this study was to evaluate the effectiveness vapocoolant for preschoolers' immunization injection pain relief.Fifty-seven 4 6-year-old children were randomized into alone or typical care conditions. Pain measured at baseline and via self-report, caregiver report, nurse by an observational scale.Self-report suggested that in condition demonstrated stronger increases from than condition. All other measures showed significant injection, but no indicated treatment effects.This...
Pathogenic variants in the OFD1 gene have been classically associated with Orofaciodigital syndrome type 1 females, a condition previously considered to be X-linked dominant male embryonic lethality. However, an increasing number of males pathogenic who survived beyond neonatal period now reported literature. Although each new report has added ever-broadening spectrum clinical findings seen males, many questions about genotype-phenotype correlations and disease mechanism remain. Herein, we...
Abstract Adaptor-Related Protein Complex 2 Sigma-1 Subunit ( AP2S1 ) encodes AP2σ2, which forms part of the heterotetrameric AP2 complex that is composed α, β2, μ2, and σ2 subunits has a pivotal role in clathrin-mediated endocytosis (CME) 1–3 . variants involving Arg15 residue are associated with familial hypocalciuric hypercalcaemia type 3 (FHH3) 1,4–6 Here, we report 5 different (AP2σ2: p.Arg10Trp, p.Arg10Gln, p.Lys18Glu, p.Lys18Asn p.Arg61His) 26 patients neurodevelopmental delay, whom...
Abstract Patent ductus arteriosus (PDA) and coarctation of the aorta (CoA) are relatively common congenital heart defects. Pathogenic variants in PRDM6, which encodes a smooth‐muscle‐cell‐specific transcription factor, have now been etiologically associated with non‐syndromic PDA. We present three patients PDA CoA found to harbor PRDM6 variants, including novel, likely‐pathogenic variant.