Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Jose Bernardo, Quintos"'
Autor:
Justin Lee, BA, Sabitha Sasidharan Pillai, MD, Avani Ganta, MD, Chanika Phornphutkul, MD, Jose Bernardo Quintos, MD
Publikováno v:
AACE Clinical Case Reports, Vol 10, Iss 5, Pp 174-178 (2024)
Background/Objective: We present an adolescent male with Noonan syndrome (NS) and celiac disease (CD) who attained normal adult height with growth hormone (GH) treatment and gluten-free diet (GFD). Case Report: A 15 ½ year old healthy male presented
Externí odkaz:
https://doaj.org/article/c9e11aa527234ae7a6f1d43ebbe7f65c
Autor:
Sabitha Sasidharan Pillai, MD, Meghan E. Fredette, MD, Jose Bernardo Quintos, MD, Lisa Swartz Topor, MD, MMSc
Publikováno v:
AACE Clinical Case Reports, Vol 10, Iss 4, Pp 132-135 (2024)
Background/Objective: Individuals with heterozygous familial hypobetalipoproteinemia (h-FHBL) due to loss-of-function mutation in the apolipoprotein B gene are typically asymptomatic with mild liver dysfunction, which is often detected incidentally.
Externí odkaz:
https://doaj.org/article/03b2fc162a9e46de97486149af160406
Publikováno v:
AACE Clinical Case Reports, Vol 9, Iss 3, Pp 63-66 (2023)
Background/Objective: Graves’ disease is an autoimmune disease associated with high levels of circulating thyroid hormones (THs). Resistance to thyroid hormone beta (RTHβ) caused by mutations in the thyroid hormone receptor beta (THRB) gene also c
Externí odkaz:
https://doaj.org/article/8a481cc7719d48768af569c1e25292a0
Autor:
Ugen Lhamu, MD, Sabitha Sasidharan Pillai, MD, Anna Delamerced, MD, Jose Bernardo Quintos, MD
Publikováno v:
AACE Clinical Case Reports, Vol 9, Iss 3, Pp 74-76 (2023)
Background/Objective: We present a boy with McCune-Albright syndrome (MAS)-associated precocious puberty (PP) who achieved normal adult height without treatment. Case Report: The patient presented at 10 years of age with PP and fibrous dysplasia of t
Externí odkaz:
https://doaj.org/article/d51af1af4d254483b88709ab57b6dee0
Autor:
Sungeeta Agrawal, Serife Uysal, Meghan Fredette, Lisa Swartz Topor, Shara R. Bialo, Michael Herzlinger, Jason Shapiro, Linda K. Snelling, Charlotte M. Boney, Jose Bernardo Quintos
Publikováno v:
Case Reports in Endocrinology, Vol 2021 (2021)
Introduction. Gastrointestinal (GI) symptoms commonly occur during diabetic ketoacidosis (DKA) and typically resolve with treatment. However, GI complications can persist after DKA resolves. The incidence of upper GI bleeding during DKA in adults has
Externí odkaz:
https://doaj.org/article/340fda6ec81e43d2aec26b8b307cf111
Publikováno v:
Case Reports in Endocrinology, Vol 2021 (2021)
Background. Growth hormone (GH) treatment increases the adult height of short children born small for gestational age (SGA). Catch-up growth is associated with a younger age, shorter height, and prepubertal status at the onset of GH treatment. We rep
Externí odkaz:
https://doaj.org/article/ec34f9af219e4e29801d2b29fde3def3
Autor:
Sabitha Sasidharan Pillai, Phinnara Has, Jose Bernardo Quintos, Monica Serrano Gonzalez, Vania L. Kasper, Lisa Swartz Topor, Meghan E. Fredette
Publikováno v:
Diabetes Care. 46:953-958
OBJECTIVE To describe the evolving impact of the coronavirus disease 2019 pandemic on the incidence and presentation of new-onset pediatric type 2 diabetes. RESEARCH DESIGN AND METHODS Retrospective medical record review of youth with new-onset type
Autor:
Meghan E. Fredette, MD, Kristin C. Lombardi, MD, Angela L. Duker, MS, LCGC, Catherine O. Buck, MD, Chanika Phornphutkul, MD, Michael B. Bober, MD, PhD, Jose Bernardo Quintos, MD
Publikováno v:
AACE Clinical Case Reports, Vol 6, Iss 1, Pp e1-e4 (2020)
ABSTRACT: Objective: Microcephalic primordial dwarfism (MPD) is a group of clinically and genetically heterogeneous disorders which result in severe prenatal and postnatal growth failure. X-ray repair cross-complementing protein 4 (XRCC4) is a causat
Externí odkaz:
https://doaj.org/article/fdfa917c44de448da1bb99dbd3fb11f9
Publikováno v:
Case Reports in Endocrinology, Vol 2020 (2020)
Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that presents in infancy and is characterized by intrauterine growth restriction and hyperglycemia without ketones on urinalysis. Patients are treated with insulin until remission
Externí odkaz:
https://doaj.org/article/c0cbb425100449889ab68b8dd4c98c86
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:1433-1436
Objectives Iodine deficiency goiter can develop in children on a restrictive diet and most have normal thyroid function. We report a 6-year-old girl with iodine deficiency goiter with thyroid function studies mimicking thyroid hormone resistance alph