Results 101 to 110 of about 343,938 (360)

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Prone Positioning for ARDS. still misunderstood and misused [PDF]

, 2018
Acute respiratory distress syndrome (ARDS) is a clinical syndrome characterized by a non-cardiogenic pulmonary edema with bilateral chest X-ray opacities and hypoxemia refractory to oxygen therapy and low level of positive end-expiratory pressure (1 ...
ALESSANDRI, FRANCESCO, BABETTO, CRISTINA, PUGLIESE, Francesco, RANIERI, VITO MARCO   +3 more
core   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Pneumothorax in the newborn due to oxygen therapy through the intubation tube; A case report

Medicine Science, 2020
Pneumothorax is one of the major causes of respiratory distress in newborns. This disorder may develop in newborns who have lung disorders such as respiratory distress syndrome, meconium aspiration syndrome or resuscitation.
Murat Kuru, Fatma Durak, Selda Yavascan
doaj   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Using Latent Class Analysis to Identify ARDS Sub-phenotypes for Enhanced Machine Learning Predictive Performance [PDF]

arXiv, 2019
In this work, we utilize Machine Learning for early recognition of patients at high risk of acute respiratory distress syndrome (ARDS), which is critical for successful prevention strategies for this devastating syndrome. The difficulty in early ARDS recognition stems from its complex and heterogenous nature.
arxiv  

Application of humanized mice in the safety experiments of antibody drugs

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract of this review highlights the critical role of humanized mice in the safety evaluation of antibody drugs. First, the inherent immunogenicity of antibody drugs can lead to the production of antidrug antibodies and hypersensitivity reactions on repeated administration.
Zhimin Sun, Mengyun Gu, Zixuan Yang, Lei Shi, Liyuan Zhao, Minhui Zheng, Yan Wang, Wei Zhang, Kexin Han, Naping Tang   +9 more
wiley   +1 more source

Establishment of rat model for aspiration pneumonia and potential mechanisms

Animal Models and Experimental Medicine, EarlyView.
Aspiration pneumonia was induced in Sprague Dawley rats by intratracheal instillation of hydrochloric acid (HCl, 1.5 μL/g.wt, pH = 1) followed by lipopolysaccharide (LPS, 20 μg/g.wt) after 1 h. The model reproduced hallmark features of acute lung injury, including histological lung damage, microvascular dysfunction, inflammation, hypoxemia, and ...
Hanbing Hu, Junfeng Chen, Yiru Shao, Yuedong Tang, Yu Dun, Obulkasim Memet, Xuanrong Bao, Jie Shen   +7 more
wiley   +1 more source

Updates on the Status of Vitamin D as a Risk Factor for Respiratory Distress Syndrome

Advances in Pharmacological Sciences, 2018
To update the guidelines regarding vitamin D status in respiratory distress syndrome, we reviewed recent human and animal studies on the benefits of vitamin D in respiratory distress.
Vesara Ardhe Gatera, Rizky Abdulah, Ida Musfiroh, Raden Tina Dewi Judistiani, Budi Setiabudiawan   +4 more
doaj   +1 more source