A5046873175- Diabetes Management and Research
- Diabetes and associated disorders
- Hormonal Regulation and Hypertension
- Diet and metabolism studies
- Obesity, Physical Activity, Diet
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Obesity and Health Practices
- Sexual Differentiation and Disorders
- Child and Adolescent Health
- Diabetes Treatment and Management
- Neuroscience of respiration and sleep
- Advanced Neuroimaging Techniques and Applications
- Trace Elements in Health
- Thyroid Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Genital Health and Disease
- Sperm and Testicular Function
- Bipolar Disorder and Treatment
- Hormonal and reproductive studies
- Blood disorders and treatments
- Aluminum toxicity and tolerance in plants and animals
- Genomics and Chromatin Dynamics
- Health and Lifestyle Studies
- Genomics and Rare Diseases
- Pancreatic function and diabetes
Boston Children's Hospital
2020-2025
Harvard University
2021-2025
Boston Children's Museum
2019-2024
New Balance (United States)
2021
Icahn School of Medicine at Mount Sinai
2015-2016
New York University
2014
This study aimed to describe changes over time in rates of overweight and obesity identify factors associated with youth type 1 diabetes. We analyzed data from 7360 diabetes medical visits among 2242 for ≥1 year followed at a pediatric, tertiary care, academic center between 2018 2023. Multivariable generalized estimating equations (GEE) analysis conditional logistic regression (CLR), where each patient had both control (not obesity) case (obesity) status, were conducted. Adjusted annual...
Cerebral perfusion was evaluated in 87 subjects prospectively enrolled three study groups—healthy controls (HC), patients with insulin resistance (IR) but not diabetes, and type 2 diabetes mellitus (T2DM). Participants received a comprehensive 8-hour clinical evaluation arterial spin labeling magnetic resonance imaging (MRI). In order of decreasing significance, an association found between cerebral blood flow (CBF) sex, waist circumference, diastolic pressure (BP), end tidal CO , verbal...
Objective: Diabetes organizations recommend nutrition education by a registered dietitian (RD) at least annually following type 1 diabetes (T1D) diagnosis in children. The study objectives were to describe differences over time annual RD follow‐up children with T1D and identify patient characteristics associated engagement. Research Design Methods: Data based on 6034 completed medical visits among 1982 patients aged <18 years for ≥1 year followed pediatric, tertiary care, academic center...
WNT2B is a member of the Wnt family, group signal transduction proteins involved in embryologic development and stem cell renewal maintenance. We recently reported homozygous nonsense variants three individuals with severe, neonatal-onset diarrhea, intestinal failure. Here we present fourth case, from separate neonatal diarrhea associated novel compound heterozygous variants. One two was frameshift variant (c.423del [p.Phe141fs]), while other missense change (c.722 G > A [p.G241D]) that...
Introduction & Objective: ADA and ISPAD recommend comprehensive nutrition education by a registered dietitian (RD) at least annually following T1D diagnosis. Study objectives were to describe longitudinal trends in annual RD follow-up children with identify patient characteristics associated engagement. Methods: Retrospective chart review was performed over 5-year period (2018-2022) on patients aged &lt;18 years for ≥1 year followed tertiary pediatric center. Mixed effects logistic...
The steroid hormone aldosterone, produced by the zona glomerulosa (zG) of adrenal gland, is a master regulator plasma electrolytes and blood pressure. While aldosterone control renin-angiotensin system well understood, other key regulatory factors have remained elusive. Here, we replicated prior association between non-coding variant in
Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B ( KAT6B , a.k.a. MORF MYST4 ) results several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel variants. These patients exhibit a range of clinical phenotypes intellectual disability, mobility language difficulties, craniofacial dysmorphology, skeletal anomalies. Given the features...
Abstract Disclosure: K.S. Borges: None. D.W. Little III: T. de Almeida Magalhães: C. Ribeiro: K. Basham: Dumonte: S. Azova: A.E. O’Connell: N.A. Guagliardo: P.Q. Barrett: M. Berber: D. Mohan: A. Turcu: W. Rainey: A.M. Lerario: D.L. Carlone: Salic: D.T. Breault: G.D. Hammer: The steroid hormone aldosterone, produced by the zona glomerulosa (ZG) of adrenal gland, plays a key role in regulating plasma electrolyte levels and blood pressure. ZG dysregulation, major driver primary aldosteronism...
Introduction: Education and management of children with new-onset or established diabetes mellitus (DM) requiring insulin initiation do not always require hospitalization. We developed a pathway for outpatient day treatment select patients after initial evaluation in the emergency department (ED) at pediatric, tertiary care academic medical center. Methods: A multidisciplinary team identified key eligibility criteria initiation, including absence diabetic ketoacidosis, age ≥3 years, plasma...
Graves' disease (GD) is rare in children under age five years. Antithyroid drugs are typically first-line therapy but carry the risks of agranulocytosis and liver dysfunction. A male infant with multiple congenital anomalies, left ventricular hypertrophy, neurologic dysfunction developed GD at months life. The presence chronic hepatitis complicated medical management. Potassium iodide was effective temporarily, urgent thyroidectomy required nine age. Postoperatively, patient a thyroid...
The incidence of pediatric diabetic ketoacidosis (DKA) increased during the peak COVID-19 pandemic. objective this study was to investigate whether rates hyperosmolar therapy administration for suspected clinically apparent brain injury (CABI) complicating DKA also period as compared three years immediately preceding pandemic and compare characteristics patients with CABI before pandemic, those but without Patients aged ≤18 presenting (March 11, 2017–March 10, 2020) 2020–March 2021) were...
Background: Education and management for new onset diabetes (NOD) does not always require hospitalization. A pathway outpatient of pediatric NOD patients after initial evaluation long-acting insulin dose in the emergency department was developed at a tertiary academic medical center. Methods: multidisciplinary team identified key eligibility criteria including absence DKA, age ≥3 years, beta-hydroxybutyrate (BOHB) &lt;1 mmol/L. Data tracking, chart review, endocrine provider surveys...
Introduction: Recent data estimate the prevalence of pediatric obesity at 18.5%. Emphasis on primary prevention and early identification is needed to avoid development serious medical psychosocial sequelae. Previous studies looking resident education childhood identified deficits in instructional quality lack formal curricula among programs with a training component. Objective: To assess baseline objective knowledge self-perceived comfort trainees an inner city residency program identifying...
Background: Unintentional exposure to cutaneous androgen products leading virilization has previously been described in children, however, continues be an overlooked cause of precocious sexual development. Clinical Case: A 16-month-old boy presented for a second opinion consultation regarding precocity. Parents noticed enlargement his penis and appearance sparse pubic hair at about 4 months age, prompting referral endocrinologist by 10 months. A comprehensive evaluation was...
Abstract Proper development and zonation of the adrenal cortex is intimately connected with its lifelong capacity to produce steroid hormones. Both adrenocortical homeostasis are mediated in part by paracrine WNT/β-catenin signaling, an essential pathway for zonal maintenance aldosterone production. Patients harboring homozygous or compound heterozygous loss-of-function (LOF) mutations WNT ligand WNT2B present congenital diarrhea require parenteral nutrition. Despite evidence euvolemia,...
Background: Recent data estimate the prevalence of pediatric obesity at 19.3%. Emphasis on primary prevention and early identification is needed to avoid development serious medical psychosocial sequelae. The objective this initiative assess baseline knowledge comfort among trainees an inner-city residency program in identifying children with overweight/obesity, evaluating associated risk factors comorbidities, providing effective counseling. Methods: Key topics from 2 major guidelines...