Results 31 to 40 of about 1,780,601 (391)
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. [PDF]
, 2018 Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension.
Campo, Miguel Del +7 more
core +2 more sources
Preferential associated anomalies in 818 cases of microtia in South america [PDF]
, 2013 The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique +5 more
core +3 more sources
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
Endocrine reviews, 2019 The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal episodic
Jacques Young +7 more
semanticscholar +1 more source
Indian Pacing and Electrophysiology Journal, 2022 Background: Wearable cardioverter-defibrillators (WCDs) are currently used in patients at temporarily heightened risk for sudden cardiac death (SCD) who are temporarily unable to receive an implantable cardioverter-defibrillator (ICD).
Berardo Sarubbi +10 more
doaj
A “long-standing” malpositioned pacing lead. Long-term follow-up after extraction
Monaldi Archives for Chest Disease, 2018 Transvenous pacemaker (PM) catheters can be unintentionally placed in the left ventricle (LV) during the implantation procedure. An 8-year-old girl was discovered with a malpositioned pm wire, seven years after the implant.
Berardo Sarubbi +5 more
doaj +1 more source
Pulmonary Circulation, 2020 Pulmonary hypertension is a chronic disease developing progressively with high mortality. Pulmonary hypertension patients need persistent medical care; however, limited reports focused on them when there was an outbreak of coronavirus disease 2019 in ...
Hongmei Zhou +7 more
doaj +1 more source
Congenital Anomalies in Infant with Congenital Hypothyroidism
Oman Medical Journal, 2012 Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.The ...
Zahra Razavi +2 more
openaire +3 more sources
Cell Death and Disease, 2021 Impaired autophagy and excessive apoptosis disrupt cellular homeostasis and contribute to neural tube defects (NTDs), which are a group of fatal and disabling birth defects caused by the failure of neural tube closure during early embryonic development ...
Wanqi Huang +8 more
doaj +1 more source
Significant familial differences in the frequency of abortion and Toxoplasma gondii infection within a flock of Charollais sheep [PDF]
, 2005 A study was carried out to investigate the frequencies of abortion and congenital Toxoplasma gondii infection within 27 families (765 individuals) of a pedigree Charollais sheep flock maintained on a working farm in Worcestershire, UK, since 1992 ...
Duncanson, P +6 more
core +2 more sources
Safety and efficacy of gene transfer for Leber's congenital amaurosis.
New England Journal of Medicine, 2008 Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease, LCA2, is caused by mutations in the retinal pigment epithelium-specific 65-kDa protein gene (RPE65).
A. Maguire +31 more
semanticscholar +1 more source