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
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
Maternal serum zinc and copper and infant birth weight [PDF]
Objective: Trace element deficiencies have been documented to play an important role in determination of the fetal outcome. It has been reported that the pregnant women in developing countries consume diets with a lower density of minerals and vitamins ...
انتشاری مقدم, افسانه +5 more
core
Congenital Heart Disease recognition using Deep Learning/Transformer models [PDF]
arXivCongenital Heart Disease (CHD) remains a leading cause of infant morbidity and mortality, yet non-invasive screening methods often yield false negatives. Deep learning models, with their ability to automatically extract features, can assist doctors in detecting CHD more effectively. In this work, we investigate the use of dual-modality (sound and image)
arxiv
Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism [PDF]
, 2001 Jean‐Christophe Fournet +12 more
openalex +1 more source
Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population [PDF]
, 2003 Frank Reimann +7 more
openalex +1 more source
Congenital hyperinsulinism in Gran Canaria, Canary Isles
Anales de Pediatría (English Edition), 2021 Introduction: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to ...
Yeray Nóvoa-Medina +4 more
doaj
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
Erratum to: Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population [PDF]
, 2003 Frank Reimann +7 more
openalex +1 more source
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