Results 81 to 90 of about 48,225 (279)
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Pediatric Investigation, EarlyView.Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source
Scimitar syndrome with large atrial septal defect and a rare partial anomalous venous drainage in an adult: a case report [PDF]
, 2023 T. Samarawickrama +3 more
openalex +1 more source
Respirology, EarlyView.There is no gold standard for detecting amiodarone‐induced‐lung injury (AILD). Dual‐Energy‐Computed‐Tomography (DECT) depicts iodine deposition in lungs abnormalities and the liver. We found a substantial correlation between the DECT assessment of AILD and comprehensive clinical evaluation of AILD. DECT can assist in the diagnosis of AILD.
Naama R. Bogot +8 more
wiley +1 more source
Intestinal Atresia in Finland: Maternal Risk Factors, Prevalence, Associated Anomalies and Survival
Acta Paediatrica, EarlyView.ABSTRACT Aim We aimed to investigate prevalence, associated anomalies and survival of congenital intestinal atresia and to examine maternal risk factors for jejunoileal atresia (JIA). Methods All children born with, or pregnancies terminated because of, JIA or colonic atresia (CA) in Finland during 1987–2019 were identified from the Finnish Register of
Esko Tahkola +9 more
wiley +1 more source
Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation
Case Reports in Cardiology, 2014 Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects.
Rupesh Kumar +7 more
doaj +1 more source
Reversibility of Pulmonary Hypertension Following Surgical Atrial Septal Defect Closure in Children with Down Syndrome [PDF]
, 2019 Jue Seong Lee +9 more
openalex +1 more source
Cardiovascular Health in Women—Across the Lifespan
Clinical Endocrinology, EarlyView.ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar +5 more
wiley +1 more source
Pediatric cardiac surgery under cardiopulmonary bypass in factor VII deficiency
The Turkish Journal of Pediatrics, 2010 We present a case of an atrial septal defect repair under cardiopulmonary bypass in a child with factor VII deficiency. A four-year-old girl, with the diagnosis of secundum atrial septal defect, was referred to surgery. Coagulation tests showed an
Ozan Emiroğlu +3 more
doaj