Results 101 to 110 of about 486,544 (375)

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

open access: yesAmerican 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   +11 more
wiley   +1 more source

Acute Respiratory Distress Syndrome is a TH17-like and Treg immune disease [PDF]

open access: yesarXiv, 2013
Acute Respiratory Distress Syndrome (ARDS) is a very severe syndrome leading to respiratory failure and subsequent mortality. Sepsis is one of the leading causes of ARDS. Thus, extracellular bacteria play an important role in the pathophysiology of ARDS. Overactivated neutrophils are the major effector cells in ARDS.
arxiv  

Prone position: Does it help with acute respiratory distress syndrome (ARDS) requiring extracorporeal membrane oxygenation (ECMO)? [PDF]

open access: yes, 2017
Introduction: Lung protective ventilation therapy with low tidal volume-high PEEP is the standard treatment for the patients with acute respiratory distress syndrome (ARDS).
Azimzadeh, Nava   +3 more
core   +2 more sources

Umbilical cord blood and neonatal endothelin-1 levels in preterm newborns with and without respiratory distress syndrome

open access: yesBrazilian Journal of Medical and Biological Research, 2005
Increased pulmonary vascular resistance in preterm newborn infants with respiratory distress syndrome is suggested, and endothelin-1 plays an important role in pulmonary vascular reactivity in newborns.
A.C.W. Benjamin   +2 more
doaj   +1 more source

Observed causes of severe respiratory distress among children with congenital heart disease

open access: yesNigerian Journal of Medicine, 2020
Background: Severe respiratory distress is a clinical feature commonly observed among children with congenital heart disease (CHD), but the underlying cause is often misdiagnosed. Objectives: This study is aimed at determining the common causes of severe
Chinawa Josephat Maduabuchi   +5 more
doaj   +1 more source

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

open access: yesAmerican 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   +12 more
wiley   +1 more source

Respiratory distress in a newborn [PDF]

open access: yes, 1996
published_or_final_versio
Chan, KL, Ip, P, Khoo, US, Ngan, H
core  

In vitro and in vivo effects of salbutamol on neutrophil function in acute lung injury [PDF]

open access: yes, 2006
Background: Intravenous salbutamol (albuterol) reduces lung water in patients with the acute respiratory distress syndrome (ARDS). Experimental data show that it also reduces pulmonary neutrophil accumulation or activation and inflammation in ARDS ...
McAuley, Daniel F.   +4 more
core   +2 more sources

Lung fluid biomarkers for acute respiratory distress syndrome: a systematic review and meta-analysis

open access: yesCritical Care, 2019
Background With the development of new techniques to easily obtain lower respiratory tract specimens, bronchoalveolar lavage fluid and other lung fluids are gaining importance in pulmonary disease diagnosis.
Yishan Wang   +6 more
doaj   +1 more source

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

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