A5025710202- Diabetes Management and Research
- Diabetes and associated disorders
- Growth Hormone and Insulin-like Growth Factors
- Sexual Differentiation and Disorders
- Hypothalamic control of reproductive hormones
- Pancreatic function and diabetes
- Thyroid Disorders and Treatments
- Diabetes Treatment and Management
- Glycogen Storage Diseases and Myoclonus
- Metabolism and Genetic Disorders
- Protein Tyrosine Phosphatases
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Thyroid Cancer Diagnosis and Treatment
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Osteoarthritis Treatment and Mechanisms
- Obesity, Physical Activity, Diet
- Lipid metabolism and disorders
- Craniofacial Disorders and Treatments
- Neonatal Respiratory Health Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Tumors and Oncological Cases
- Adrenal and Paraganglionic Tumors
Hasbro Children's Hospital
2016-2025
Brown University
2016-2025
Rhode Island Hospital
2014-2024
Providence College
2015-2024
Diabetes Australia
2024
University of Massachusetts Chan Medical School
2015-2016
New York University
2015-2016
New York College of Health Professions
2015
University of Pennsylvania
2015
Boston Children's Hospital
2007
<b><i>Background/Aims:</i></b> On behalf of the Drug and Therapeutics, Ethics Committees Pediatric Endocrine Society, we sought to update guidelines published in 2003 on use growth hormone (GH). Because idiopathic short stature (ISS) remains a controversial indication, diagnostic challenges often blur distinction between ISS, GH deficiency (GHD), primary IGF-I (PIGFD), focused these three diagnoses, thereby adding recombinant therapy for first time....
Mutations in the GnRH receptor (GNRHR) have been described as a cause of reproductive failure subset patients with idiopathic hypogonadotropic hypogonadism (IHH). Given apparent rarity these mutations, we set out to determine frequency and distribution GNRHR mutations heterogeneous population IHH who were well characterized respect diagnosis, phenotype, mode inheritance define their within protein. One hundred eight probands screened for coding sequence GNRHR. Forty-eight 108 had normal...
Abstract Context: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation. Objective: We sought to characterize phenotypic spectrum and response growth-promoting therapies. Patients Methods: One hundred three individuals (57 females, 46 males) from 20 families heterozygous ACAN were identified confirmed using whole-exome sequencing, targeted next-generation and/or Sanger sequencing. Clinical information was collected...
Abstract Recently, whole exome sequencing identified heterozygous defects in the aggrecan ( We report a novel frameshift mutation present 5 1/2-year-old male with family history of short stature three generations. The maternal grandfather stands 144.5 cm (Ht SDS –4.7), mother 147.7 –2.6), and index case 99.2 –2.7). Our prepubertal patient has significant bone age advancement (bone 8 years at chronologic 1/2 years) resulting poor predicted adult height 142 –5.1). DNA variant Mutations
OBJECTIVE To describe the evolving impact of coronavirus disease 2019 pandemic on incidence and presentation new-onset pediatric type 2 diabetes. RESEARCH DESIGN AND METHODS Retrospective medical record review youth with diabetes comparing prepandemic period (1 January 2017–29 February 2020) first March 2020–31 December second year 2021–31 2021). RESULTS The annualized increased nearly threefold during versus prior, a 61% increase in 2nd 1st year. BMI prior (129% 95th percentile vs. 141%, P...
Short stature in the adult patient with congenital adrenal hyperplasia (CAH) is commonly seen, even among patients excellent control during childhood and puberty. In this study we examine effect of GH therapy on height prediction children both CAH compromised prediction. Leuprolide acetate, a GnRH analog (GnRHa), was given to evidence early (n = 12) or combination GnRHa 8) administered 20 while they continued glucocorticoids. Each treatment group matched according age, sex, bone puberty,...
The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominant inactivating mutations in uncoupling protein 2 (UCP2), a mitochondrial inner membrane carrier that modulates oxidation glucose vs amino acids.To evaluate the frequency UCP2 children HI and phenotypic features this HI.We examined 211 diazoxide-responsive seen at Children's Hospital Philadelphia (CHOP) between 1997 October 2016.CHOP Clinical Translational Research Center.Of cases HI, we identified 5...
Aggrecan is an integral component of the extracellular matrix in cartilaginous tissues, including growth plate. Heterozygous defects aggrecan gene have been identified as a cause autosomal dominant short stature, bone age acceleration, and premature cessation. The mechanisms accounting for this phenotype remain unknown. We used ATDC5 cells, established model chondrogenesis, to evaluate effects deficiency. knockdown cell lines (AggKD) were generated using lentiviral shRNA transduction...
Disadvantaged and minority youth with type 1 diabetes are less likely to be on insulin pump therapy compared the majority population. Little is known about how pediatric endocrinology providers determine eligibility for pump. We aimed identify provider factors influencing decision initiate therapy.We conducted a survey of Pediatric Endocrine Society members who prescribe patients diabetes. The collected information prescriber characteristics, use adherence guidelines, criteria, objective...
Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis infancy. In this article we report patient with systemic PHA presenting dehydration due to wasting at 6 days life. She was found have known mutation SCNN1A gene subsequently required treatment supplementation. We also review clinical presentation, differential diagnosis,...
Objective To evaluate the efficacy of Parent Education Through Simulation–Diabetes (PETS-D; clinical trial registration NCT01517269) for parents children <13 years old newly diagnosed with type 1 diabetes 3 parent education vignette sessions using human patient simulation (HPS) as compared formal parent-nurse (vignette only) regarding knowledge, problem-solving skills, hypoglycemia fear, anxiety, and self-efficacy. Design Methods Subjects were randomized to HPS or vignette-only arm. Using...
Abstract We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed single copy number increase of BAC clone in the 11p15.4 region. Oligonucleotide aCGH refined duplication to approximately 2.29 megabases (Mb) size. Testing parents revealed that father, who had learning disabilities also duplication, mother normal microarray. In addition, patient's brother grandmother all share...
Abstract Background The American Thyroid Association (ATA) recommendations for the follow-up of thyroid nodules with benign fine needle aspiration (FNA) cytology in children are largely based on adult data, despite well-characterized differences between adults and children. We aimed to determine optimal time interval repeat evaluation an FNA-benign nodule a pediatric patient. Methods This is retrospective chart review patients <19 years age from 2003 2013 by FNA cytology. Results...
Background Measurement of intervention fidelity is an essential component any scientifically sound trial. However, few papers have proposed ways to integrate data into the execution these trials. Objective The purpose this article describe process used in a randomized controlled trial human patient simulator and how were monitor drift provide feedback improve consistency both control delivery over time multisite education for parents children with newly diagnosed Type 1 diabetes. Methods...
Background/ObjectiveGraves' disease is an autoimmune associated with high levels of circulating thyroid hormones (THs). Resistance to hormone beta (RTHβ) caused by mutations in the receptor (THRB) gene also can lead TH levels. Here, we describe 2 related cases, one a woman Graves' disease, and her newborn RTHβ.Case ReportThe was 27 years age, free thyroxine (T4) (FT4) >7.7 ng/dL (0.8-1.8), triiodothyronine 1350 (90-180), undetectable thyrotropin (TSH), but no symptoms thyrotoxicosis. She had...
Article Use of Growth Hormone and Gonadotropin Releasing Agonist in Addition to L-Thyroxine Attain Normal Adult Height Two patients with Severe Hashimoto's Thyroiditis was published on May 1, 2005 the journal Journal Pediatric Endocrinology Metabolism (volume 18, issue 5).