Results 241 to 250 of about 32,441 (336)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

SIGNIFICANCE OF TISSUE OXYGENIZATION IN PATIENTS CONNECTED TO A MECHANICAL VENTILATOR

open access: green, 2022
Fulya Köse   +5 more
openalex   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

The Global Airways in Practice: Long‐term Effects of Mepolizumab With or Without FESS on Type 2 Inflammation in Patients With CRSwNP

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2 inflammatory disease often associated with asthma. The global airway hypothesis suggests bidirectional inflammatory interactions between upper and lower airways. Mepolizumab, an anti–IL‐5 therapy, treats conditions systemically, while functional endoscopic sinus surgery ...
Jens Tidemandsen   +9 more
wiley   +1 more source

Design and development of an affordable multi-mode small animal ventilator. [PDF]

open access: yesSci Rep
Dzierzawski P   +6 more
europepmc   +1 more source

New approaches to treating chronic obstructive pulmonary disease with Colla corii asini

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Colla corii asini improves chronic obstructive pulmonary disease (COPD) treatment through anti‐inflammatory, antioxidant, immune‐modulatory, and lung‐nourishing effects, addressing current therapeutic challenges via multitarget mechanisms. Abstract Chronic obstructive pulmonary disease (COPD) is one of the leading causes of death and disability ...
Wenchao Zhang   +5 more
wiley   +1 more source

Bench evaluation of six non-invasive ventilation home ventilators: comparison with an ICU ventilator and unsupervised clustering. [PDF]

open access: yesBMJ Open Respir Res
Pensier J   +9 more
europepmc   +1 more source

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