Genetic Contribution to Asthma Informs Acute Chest Syndrome Pathophysiology and Risk Stratification
ABSTRACT Acute chest syndrome (ACS) is a severe complication of sickle cell disease (SCD) occurring in ~50% of patients, some presenting frequent episodes. We lack tools to identify patients at high risk of ACS occurrence or frequent episodes. Epidemiological studies have found an association between asthma and ACS, but whether this link is causal is ...
Sara El Aouhel +10 more
wiley +1 more source
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
Toward a Fuller Integration of Respiratory Rhythms Into Research on Infant Vocal and Motor Development. [PDF]
Fuchs S +3 more
europepmc +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
The Effects of the Abdominal Drawing-In Maneuver on Intra-Abdominal Pressure and Torque During Trunk Rotation. [PDF]
Kimura A +3 more
europepmc +1 more source
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi +6 more
wiley +1 more source
Volitional Yoga Breathing for Smokers: Development, Validation, and Feasibility of a 30-Minute Breathing-Only Intervention for Smoking Cessation and Pulmonary Rehabilitation. [PDF]
Kumar S +6 more
europepmc +1 more source
Effects of combined Triflow, deep breathing and coughing exercises on postoperative pulmonary function after mitral valve replacement: a randomized controlled trial. [PDF]
Akıncı N, Eren E.
europepmc +1 more source
Correction: AASM Public Safety Committee response to "Correcting melanin-dependent errors in pulse oximetry for more accurate assessments of sleep-disordered breathing". [PDF]
Namen AM +4 more
europepmc +1 more source

