Results 41 to 50 of about 400,898 (240)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source
CURRENT ISSUES OF NEWBORN CARE IN SURGICAL DISEASES
Медицинский вестник Юга России, 2015 Purpose: to identify the trigger group nosology in newborns, acting on which it is possible to reduce infant mortality and to assess the links between the development of complications and the period from birth to transfer to the surgical ward in ...
T. U. Bykovskaya, M. A. Shishov
doaj +1 more source
Ileocecal valve atresia with volvulus
Journal of Pediatric Surgery Case Reports, 2022 Atresia of the ileocecal valve is a very rare etiology of neonatal intestinal obstruction. We report the case of a newborn who presents a neonatal occlusion in whom the exploration has found a volvulus of the last intestinal loop and the cecum which were
Hicham Ajdar +4 more
doaj +1 more source
, 2022 La atresia Intestinal es la falta de formación completa de una porción del conducto intestinal, mayormente del íleon. La prevalencia es de 1 a de cada 5000 niños o niñas nacidas, indistintamente del sexo, de los cuales 1/3 son prematuros, y el 39% de las
Puente De La Vega Campos, Renato
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An Overview of the Intestinal Atresia Birth Defect [PDF]
, 2023 Intestinal atresia is the general term for a vast range of complete obstructions anywhere within an individual’s intestines. It is a congenital anomaly due to a change in the DNA sequence during fetal development.
Kornstad, Abigail
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Management of Tetralogy of Fallot with Pulmonary Atresia [PDF]
, 2005 Tetralogy of Fallot with Pulmonary Atresia is an extreme form of tetralogy characterized by absence of flow from the right ventricle to the pulmonary arteries.
Prieto, Lourdes R.
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Follicle Stimulating Hormone in Cattle Breeding: Fundamentals, Innovations, and Scope
Animal Research and One Health, EarlyView.FSH is crucial in cattle reproduction, with exogenous administration enhancing breeding and embryo production. Recombinant FSH offers advantages over pituitary‐extracted variants, including fewer injections, reduced stress, and safer production. These innovations improve breeding efficiency, optimize reproductive outcomes, and contribute to sustainable
Muhammad Shahzad +7 more
wiley +1 more source
Pulmonary valvulotomy in a fetus with pulmonary atresia with intact ventricular septum : first experience in Turkey [PDF]
, 2012 The mortality and morbidity of children with pulmonary atresia with intact ventricular septum (PA/IVS) is closely related with right ventricle hypoplasia and its consequent hemodynamics.
Polat, Tugcin Bora, Danısman, N.
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Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics
British Journal of Clinical Pharmacology, EarlyView.Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay +5 more
wiley +1 more source