Results 11 to 20 of about 869,874 (249)
Background The production of recombinant proteins with proper conformation, appropriate post-translational modifications in an easily scalable and cost-effective system is challenging.
Susheel K. Singh +5 more
doaj +1 more source
Objectives: To develop a more holistic measure of center performance than operative mortality, we created a composite “textbook outcome” for the Norwood operation using several postoperative end points. We hypothesized that achieving the textbook outcome
Neel K. Prabhu, MD +8 more
doaj +1 more source
Protein-losing enteropathy (PLE) represents a rare but severe and potentially life-threatening complication following Fontan operation in patients with a functional single ventricle.
Rosaria Barracano +4 more
doaj +1 more source
A “long-standing” malpositioned pacing lead. Long-term follow-up after extraction
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
Imaging of ventricular septal defect: Native and post-repair
Cardiac imaging using a combination of multiple modalities has become an essential tool in the management of adults with congenital heart disease with the potential to improve the outcome.
Flavia Fusco +4 more
doaj +1 more source
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
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
Introduction: The number of adults with congenital heart disease has significantly increased in recent years. While telemedicine has emerged as a promising approach to improve care delivery and patient outcomes, its use for adults with congenital ...
Nunzia Borrelli +8 more
doaj +1 more source
Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack +12 more
wiley +1 more source
Progressive familial intrahepatic cholestasis type 4: a case report
Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure ...
Mohamed Abdelmalak Abokandil +6 more
doaj +1 more source

