7 results match your criteria: "Nationwide Children's Hospital and Research Institute[Affiliation]"
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Eur J Hum Genet
September 2021
Département de génétique médicale, AP-HM, Hôpital d'enfants La Timone, Marseille, France.
Article Synopsis
- The BCAP31 gene at Xq28 encodes BAP31, which is involved in transporting proteins from the endoplasmic reticulum to the Golgi apparatus, with mutations linked to severe neurological disorders in males.
- Pathogenic variants result in a spectrum of symptoms, including profound intellectual disability, dystonia, deafness, and a syndrome called deafness, dystonia, and cerebral hypomyelination (DDCH), with females often being asymptomatic or only mildly affected.
- The study identifies 17 new families with BCAP31-related conditions, confirming that males with loss-of-function variants have a more severe phenotype, while females can exhibit a range of neurological symptoms, and suggests additional complications like elevated liver enzymes in male
The purpose of this study was to identify and characterize adverse drug events (ADEs) in a primary care setting using an electronic health record (EHR). This prospective, observational study enrolled patients with any medication change who were seen at an outpatient internal medicine clinic. Patients were evaluated for ADEs by EHR review and telephone interview.
View Article and Find Full Text PDFThree-injection intralymphatic immunotherapy in adolescents and young adults with grass pollen rhinoconjunctivitis.
Ann Allergy Asthma Immunol
February 2016
Nationwide Children's Hospital and Research Institute, Columbus, Ohio; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, Ohio.
Initial counseling prior to palliation for hypoplastic left heart syndrome.
Congenit Heart Dis
November 2011
Nationwide Children's Hospital and Research Institute, Columbus, Ohio 43205, USA.
Objective: Multiple surgical approaches to the initial palliation of patients with hypoplastic left heart syndrome (HLHS) have been advocated throughout the years. We sought to examine what procedure, if any, is recommended for HLHS management in regard to physician preference, anatomical variations, and concomitant medical issues.
Patients And Methods: A Web-based survey of pediatric cardiologist subscribed to PediHeart was conducted.
Trisomy 13 and 18 are associated with congenital heart disease. Cardiac palliation has been reported in the literature, but is not usually done in this population. Thus, a multi-disciplinary team may experience controversy in formulating a care plan that includes cardiac intervention.
View Article and Find Full Text PDFTissue Doppler measurements correlate with central venous pressure in pediatric patients after cardiac surgery.
ASAIO J
September 2010
The Heart Center, Nationwide Children's Hospital and Research Institute, Columbus, Ohio, USA.
Tissue Doppler imaging (TDI) measurements have been demonstrated to correlate with central venous pressure (CVP) in adults. We hypothesize that TDI measurements also correlate with CVP in children after cardiac surgery. Patients younger than 10 years with invasive CVP monitoring after cardiac surgery were studied.
View Article and Find Full Text PDFNecrotizing enterocolitis in neonates with congenital heart disease.
Life Sci
February 2008
Section of Neonatology, Nationwide Children's Hospital and Research Institute, Columbus, OH 43205, USA.
Both necrotizing enterocolitis (NEC) and congenital heart disease (CHD) are causes of significant morbidity and mortality in the neonatal population. While two distinct disease processes, NEC and CHD are inter-related as the incidence of NEC is greater in neonates with CHD than the normal newborn population. It is likely that circulatory perturbations, especially those seen in infants with left ventricular outflow tract lesions and single ventricle physiology, the stress of cardiac surgery and cardiopulmonary bypass, and the underlying baseline elevation of circulating endotoxin and proinflammatory cytokines all play a role in the pathogenesis of NEC in this uniquely susceptible population.
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