Results 41 to 50 of about 30,248,737 (228)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Perbedaan Kadar Alpha 1 Antitrypsin Feses Berdasarkan Tingkat Keparahan Diare Akut pada Anak

Sari Pediatri, 2018
Latar belakang. Diare dapat menyebabkan kekurangan gizi, gangguan pertumbuhan dan gangguan kognitif. Gangguan gizi dapat terjadi karena asupan makanan yang kurang, atau kehilangan langsung karena kerusakan mukosa usus.
Fitriyana Fitriyana, Yusri Dianne Jurnalis, Eti Yerizel   +2 more
doaj   +1 more source

Targeting neutrophil extracellular traps in metabolic and immune niche: Nanomaterials for diabetes tissue regeneration

BMEMat, EarlyView.
The effects of NETs on regeneration of various diabetic tissues, and strategies targeting NETs for diabetes tissue regeneration. In the diabetic environment, NETs undergo complex metabolic and immune reprogramming, leading to dynamic changes in antibacterial and proinflammatory functions, and affecting regeneration of multiple systemic tissues.
Xinyi Jiang, Muxin Yue, Kai Mao, Boon Chin Heng, Noor Azlin Yahya, Yunsong Liu, Zheng Li   +6 more
wiley   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency

International Journal of COPD, 2020
Kylie BR Belchamber,1 Eloise M Walker,1 Robert A Stockley,1 Elizabeth Sapey1,2 1Birmingham Acute Care Research Group, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; 2NIHR Clinical Research Facility Birmingham, University ...
Belchamber KBR, Walker EM, Stockley RA, Sapey E   +3 more
doaj  

Alpha-1 Antitrypsin Substitution for Extrapulmonary Conditions in Alpha-1 Antitrypsin Deficient Patients [PDF]

Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation, 2018
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder which most commonly manifests as pulmonary emphysema. Accordingly, alpha-1 antitrypsin (AAT) augmentation therapy aims to reduce the progression of emphysema, as achieved by life-long weekly slow-drip infusions of plasma-derived affinity-purified human AAT.
Boris M, Baranovski, Ronen, Schuster, Omer, Nisim, Ido, Brami, Yotam, Lior, Eli C, Lewis   +5 more
openaire   +2 more sources

Mid‐upper arm circumference, steatosis indices, and elastography for screening liver steatosis in children with overweight/obesity: A prospective cross‐sectional study

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Metabolic dysfunction–associated steatotic liver disease (MASLD) is common in children, and practical screening approaches are needed in populations with overweight/obesity. We aimed to evaluate mid‐upper arm circumference (MUAC) as a simple marker for ultrasonography (US)‐detected liver steatosis (LS) in children with overweight ...
Selcuk Teke, Tugba Cavis, Yasin Maruf Ergen, Birce Izgi Akcay, Edibe Gozde Basaran, Necati Balamtekin   +5 more
wiley   +1 more source

Long-term augmentation therapy with Alpha-1 Antitrypsin in an MZ-AAT severe persistent asthma

Monaldi Archives for Chest Disease, 2016
A young Caucasian female with severe bronchial asthma and Alpha1-antitrypsin (AAT) deficiency, MZ phenotype, experienced a quick and severe limitation of her physical capacity, which negatively affected her psychological state and social life, though she
I. Blanco, H. Canto, J. Flóres, C. Camblor, V. Cárcaba, F.J. de Serres, S. Janciauskiene, E.F. Bustillo   +7 more
doaj   +1 more source

Decrease in alpha-1 antiproteinase antitrypsin is observed in primary Sjogren’s syndrome condition

Autoimmunity, 2020
Primary Sjogren’s syndrome (pSS) is a systemic autoimmune disease that is characterized by the infiltration of immune cells. Although the loss of salivary gland function is a major manifestation observed in pSS, the factors that could promote these ...
Brij B. Singh, Joyce Ohm, Fredice O. Quenum Zanbede, Pooja Chauhan, Frans G. M. Kroese, Arjan Vissink, Julian L. Ambrus, Bibhuti B. Mishra   +7 more
doaj   +1 more source

Polymers and inflammation: disease mechanisms of the serpinopathies [PDF]

, 2008
Members of the serpin (serine proteinase inhibitor) superfamily play a central role in the control of inflammatory, coagulation, and fibrinolytic cascades.
David A. Lomas, Lomas, D.A., Gooptu, Bibek, Bibek Gooptu, Gooptu, Bibekbrata   +4 more
core   +1 more source