Results 131 to 140 of about 396,693 (199)

Comparison of Signal- and Volume-Based Ventilation-Weighted Assessment Using 3D FLORET UTE MRI in Patients With Various Pulmonary Disease. [PDF]

open access: yesMagn Reson Med
Klimeš F   +12 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

Hypercapnia as a Key Mechanism in the Development of Pulmonary Hypertension in Malignant Pertussis: A Case Report. [PDF]

open access: yesRespirol Case Rep
Muñoz-Bonet JI   +5 more
europepmc   +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

Hemophagocytic Macrophages in the Peripheral Blood of a Critically Ill Patient With COVID‐19 and RSV Infection

open access: yes
American Journal of Hematology, EarlyView.
Ashik Zala   +5 more
wiley   +1 more source

‘Hurry Up and Get Me out of Here’: The Experience of People Under 65 Years (Still) Stuck in Aged Care

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Following the Royal Commission into Aged Care Quality and Safety, the Australian Government set a target for no‐one under 65 years of age to be living in residential aged care (RAC) by 2025. The numbers of young people in residential aged care (YPIRAC) have significantly declined since the start of the targets.
Elroy Dearn   +4 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

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