Results 81 to 90 of about 1,403 (143)

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  

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

Infantile Neuroglycopenia

Pediatric Neurology Briefs, 2007
Participant 1, a 23-year-old woman with congenital hypoglycemia (hyperinsulinism); participant 2, a 16-year-old boy with genetic mutation of the cerebral glucose transporter type 1 (GLUT1 deficient); and participant 3, the 23-year-old healthy twin sister
J Gordon Millichap
doaj   +1 more source

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  

Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism [PDF]

, 2001
Jean‐Christophe Fournet, Christine Mayaud, Pascale de Lonlay, M S Gross-Morand, Virginie Verkarre, Mireille Castanet, Martine Devillers, Jacques Rahier, Françis Brunelle, Jean‐Jacques Robert, Claire Nihoul‐Feketé, Jean‐Marie Saudubray, Claudine Junien   +12 more
openalex   +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

Strabismic syndromes and syndromic strabismus - a brief review [PDF]

arXiv, 2015
Strabismus can be found in association with congenital heart diseases, for examples, in velocardiofacial (DiGeorge) syndrome, Down syndrome, mild dysmorphic features, in CHARGE association, Turner syndrome, Ullrich-Turner syndrome, cardiofaciocutaneous syndrome.1-4 Some types of strabismus is heritable (e.g.
arxiv  

Reversible Pulmonary Hypertension in an Infant Treated with Diazoxide [PDF]

Asia Pacific Journal of Medical Toxicology, 2014
Background: Diazoxide is the main therapeutic agent for congenital hyperinsulinism. The drug is generally well tolerated; however, in this report severe adverse effects including heart failure (HF) and pulmonary hypertension (PH) in an infant are ...
Masoud Dehdashtian
doaj  

Identification of Key Proteins Involved in Axon Guidance Related Disorders: A Systems Biology Approach [PDF]

arXiv, 2018
Axon guidance is a crucial process for growth of the central and peripheral nervous systems. In this study, 3 axon guidance related disorders, namely- Duane Retraction Syndrome (DRS) , Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) and Congenital fibrosis of the extraocular muscles type 3 (CFEOM3) were studied using various Systems Biology ...
arxiv