Results 151 to 160 of about 510,633 (288)

Education program for caregivers in congenital central hypoventilation syndrome: Initiation and experience families

Pediatric Pulmonology, Volume 59, Issue 12, Page 3777-3782, December 2024.
Delphine Micaelli, Zina Ghelab, Christophe Delclaux, Caroline Artu‐Dumont, Maxime Patout, Fleur Le Bourgeois, Stéphane Dauger, Plamen Bokov, Benjamin Dudoignon   +8 more
wiley   +1 more source

Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations

American Journal of Medical Genetics Part A, Volume 194, Issue 1, Page 88-93, January 2024.
Abstract We describe a 2‐month‐old female infant with macroglossia, macrosomia, omphalocele, neonatal hypoglycemia, earlobe creases, low nasal bridge, midface retrusion, syndromic facies and multiple cutaneous and hepatic hemangiomas (HH). Genetic evaluation confirmed the diagnosis of Beckwith–Wiedemann Syndrome (BWS) with mosaic uniparental disomy 11 ...
Maria Moutafi, Nikolaos Gkiourtzis, Athina Ververi, Maria Kavga, Anthi Morichovitou, Kyriaki Papadopoulou‐Legbelou, Maria Fotoulaki, Paraskevi Panagopoulou   +7 more
wiley   +1 more source

Wrodzony hiperinsulinizm — próba optymalizacji diagnostyki i leczenia u polskich pacjentów [PDF]

, 2015
  Introduction: Congenital hyperinsulinism of Infancy (CHI) comprises heterogenic defects of insulin secretion with diverse molecular aetiology, histological features, severity of symptoms, and response to pharmacotherapy.
Barg, Ewa, Borowiec, Maciej, Brandt, Agnieszka, Buraczewska, Marta, Jarosz-Chobot, Przemyslawa, Myśliwiec, Małgorzata, Młynarski, Wojciech, Sykut-Cegielska, Jolanta, Szymanska, Ewa   +8 more
core   +2 more sources

Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X) [PDF]

, 2015
Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells.
Alberto Sensi, Antonella Pragliola, Claudia Muratori, Federico Marchetti, Khalid Hussain, Michela Cappella, Vanna Graziani   +6 more
core   +3 more sources

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism [PDF]

, 2019
Congenital hyperinsulinism (CHI) causes dysregulated insulin secretion which can lead to life-threatening hypoglycaemia if not effectively managed. CHI can be sub-classified into three distinct groups: diffuse, focal and mosaic pancreatic disease. Whilst
Banerjee, I, Cheesman, E, Chinnoy, A, Dunne, MJ, Flanagan, SE, Houghton, JAL, Jabbar, S, Laver, TW, Salomon‐Estebanez, M, Shaikh, G, Yau, D   +10 more
core   +3 more sources

The Role of Machine Learning in Congenital Heart Disease Diagnosis: Datasets, Algorithms, and Insights [PDF]

arXiv
Congenital heart disease is among the most common fetal abnormalities and birth defects. Despite identifying numerous risk factors influencing its onset, a comprehensive understanding of its genesis and management across diverse populations remains limited.
arxiv  

Transfer learning for diagnosis of congenital abnormalities of the kidney and urinary tract in children based on Ultrasound imaging data [PDF]

arXiv, 2017
Classification of ultrasound (US) kidney images for diagnosis of congenital abnormalities of the kidney and urinary tract (CAKUT) in children is a challenging task. It is desirable to improve existing pattern classification models that are built upon conventional image features.
arxiv  

Dysregulation of Insulin Secretion in Children With Congenital Hyperinsulinism due to Sulfonylurea Receptor Mutations [PDF]

, 2001
Adda Grimberg, Robert J. Ferry, Andrea Kelly, Samantha Koo-McCoy, K. S. Polonsky, Benjamin Gläser, M. Alan Permutt, Lydia Aguilar‐Bryan, Diane Stafford, Paul Thornton, L. Baker, Charles A. Stanley   +11 more
openalex   +1 more source

Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

Orphanet Journal of Rare Diseases, 2022
Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton   +7 more
doaj   +1 more source

Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia [PDF]

, 2001
Hiroki Fujioka, Yoshiyuki Okano, Hiroshi Inada, Minoru Asada, Tomoyuki Kawamura, Yutaka Hase, Tsunekazu Yamano   +6 more
openalex   +1 more source