Results 251 to 260 of about 121,296 (347)

Proteomic Analysis of Golden Sputum Reveals Pulmonary Complement Activation During Acute Chest Syndrome in Children With Sickle Cell Disease

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Acute chest syndrome (ACS) is one of the most common severe complications of sickle cell disease (SCD). In recent years, a major role of inflammation and innate immunity has been evidenced, but ACS pathophysiology remains incompletely understood, and therapeutic options are limited.
Slimane Allali   +14 more
wiley   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

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

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

Airway Occlusion Pressure Revisited. [PDF]

open access: yes, 2020
Sassoon, Catherine S, Younes, Magdy
core  

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

Polydatin alleviates mitochondrial damage and apoptosis of lung epithelial cells by inhibiting toll‐like receptor 4‐dependent macrophage activation in asthma

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The alleviation of asthma by polydatin is dependent on the blockage of the toll‐like receptor 4 (TLR4)/P2X7R synergy in macrophages. The blockage of the TLR4/P2X7R synergy results in decreased release and secretion of interleukin‐1β (IL‐1β) and IL‐18. In epithelial cells, low IL‐1β and IL‐18 levels inhibit mitochondrial damage and apoptosis.
Guangxing Li   +9 more
wiley   +1 more source

Comparative evaluation of single‐artery cannulation with passive venous drainage versus traditional dual‐cannula ex vivo lung perfusion in a rat model

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study compared a simplified rat ex vivo lung perfusion model with single‐artery inflow and passive vein drainage to the traditional dual‐catheter closed‐loop system. Abstract Background Ex vivo lung perfusion (EVLP) has emerged as a critical technique for lung preservation and evaluation prior to transplantation.
Ming Ni   +11 more
wiley   +1 more source

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