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Phosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFAdvances in the Treatment of Neonatal Coarctation of the Aorta.
Pediatrics
January 2025
Department of Pediatric Cardiology and Critical Care, Hannover Medical School, Hannover, Germany.
Coarctation of the aorta (CoA) is a potentially life-threatening congenital and obstructive anomaly of the distal aortic arch. After constriction of the ductus arteriosus, neonates may develop critical CoA in the isthmus area and present with severe left ventricular dysfunction or even cardiac failure. Low cardiac output and abdominal hypoperfusion (distal to the coarctation) may lead to metabolic derangements and clinical deterioration.
View Article and Find Full Text PDFAdult congenital aortic coarctation complicated by acute type a aortic intramural hematoma treated with a staged hybrid technique: a case report.
J Cardiothorac Surg
January 2025
Department of Cardiovascular Surgery, Qingdao Municipal Hospital, Qingdao, 266000, China.
Background: Coarctation of the aorta (CoA) in adults is rare. usually combined with dilatation of the ascending aorta. Further disease progression complicated by hematoma or dissection of the ascending aorta is even more complicated and dangerous.
View Article and Find Full Text PDFMedical & Socioeconomic Risk Factors Associated with Lack of Neurodevelopmental Evaluation Following Neonatal Cardiac Surgery.
Pediatr Cardiol
January 2025
Division of Cardiac Critical Care, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Neonates with congenital heart disease (CHD) who undergo cardiopulmonary bypass (CPB) are at high-risk for unfavorable neurodevelopmental (ND) outcomes and are recommended for ND evaluation (NDE); however, poor rates have been reported. We aimed to identify risk factors associated with lack of NDE. This single-center retrospective observational study included neonates < 30 days old who underwent CPB and survived to discharge between 2012 and 2018.
View Article and Find Full Text PDFGenetic and audiological determinants of hearing loss in high-risk neonates.
Braz J Otorhinolaryngol
January 2025
Shanghai Jiao Tong University, School of Medicine, Hainan Branch of Shanghai Children's Medical Center, Department of Otorhinolaryngology, Sanya, China; Shanghai Jiao Tong University, School of Medicine, Shanghai Children's Medical Center, Department of Otorhinolaryngology, Shanghai, China. Electronic address:
Objective: We aimed to investigate the correlation between prevalent risk factors for high-risk neonates in neonatal intensive care unit and their hearing loss, and to examine the audiological features and genetic profiles associated with different deafness mutations in our tertiary referral center. This research seeks to deepen our understanding of the etiology behind congenital hearing loss.
Methods: We conducted initial hearing screenings, including automated auditory brainstem response, distortion product otoacoustic emission, and acoustic immittance on 443 high-risk neonates within 7 days after birth and 42 days (if necessary) after birth.
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