Results 91 to 100 of about 102,975 (265)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
BMC PediatricsBackground The objective of this study was to compare HFNC therapy to noninvasive ventilation (NIV/BiPAP) in children with bronchiolitis who developed respiratory failure. We hypothesized that HFNC therapy would not be inferior to NIV. Methods This was a
Ana Carolina Etrusco Zaroni Santos +7 more
doaj +1 more source
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady +10 more
wiley +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Chronic rhinosinusitis (CRS) and allergic rhinitis (AR) are two highly prevalent airway diseases in the United States. While the coexistence of CRS and asthma is well recognized, less is known about the development of new‐onset asthma in CRS, particularly in the context of comorbid AR. This study assessed the impact of CRS and AR on
Austin J. Lee, Mohamad R. Chaaban
wiley +1 more source
International Journal of Infectious DiseasesBackground: The cardiovascular impact of respiratory syncytial virus (RSV) infection has surpassed its effects on the respiratory system. This study aims to identify independent risk factors for these events.
Jingwen Ni +6 more
doaj +1 more source
Advanced NanoBiomed Research, EarlyView.This article reveals how calcium content, mineral nanostructure, and lacuno‐canalicular network (LCN) organization interact to shape bone heterogeneity in mouse tibiae. Advanced multimodal imaging uncovers that mechanical loading promotes mature mineral structures even in low‐calcium regions, highlighting LCN‐driven mineralization and offering new ...
Victoria Schemenz +10 more
wiley +1 more source
Advanced NanoBiomed Research, EarlyView.Despite significant advances, most academic research fails to result in medical products that benefit patients. This guide shares five key steps to help researchers close that gap: set clear goals, test thoroughly, protect ideas, build diverse teams, and partner with industry.
Cristina Oldani +4 more
wiley +1 more source
Hidden Harlequin syndrome in neonatal and pediatric VA-ECMO
Critical Care, 2022 Yael Levy +7 more
doaj +1 more source
Clinical and therapeutic data of a child with ecthyma gangrenosum
Acta Medica Academica, 2010 The presence of the Pseudomonas aeruginosa infection in healthy children is very uncommon. Infants may occasionally present with community-acquired sepsis due to Pseudomonas aeruginosa, preceded by prolonged contact with contaminated bath water ...
Ilirjana Bakalli +6 more
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