Results 51 to 60 of about 26,458 (238)

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

Multimodal MRI and multiomics reveal high‐risk neurophenotype in brain‐gut circuits as therapeutic target for Crohn's disease

Interdisciplinary Medicine, EarlyView.
Through a translational framework combining prospective dual‐center clinical cohorts with dextran sulfate sodium‐induced colitis models, this work integrated advanced neuroimaging, multi‐omics and neuromodulation interventions to redefine the high‐risk neurophenotype as a sustained pathogenic driver rather than a mere phenomenon, proposing brain‐gut ...
Xuehua Li, Ruonan Zhang, Xiaodi Shen, Shaochun Lin, Chuhuai Wang, Weikai Zheng, Weimiao Kong, Zihao Lin, Rongchang Li, Caiguang Liu, Xin Cao, Li Huang, Weitao He, Jinjiang Lin, Haijie Wang, Zhoulei Li, Marietta Iacucci, Subrata Ghosh, Zhenpeng Peng, Canhui Sun, Minhu Chen, Guang Yang, Yejun Wang, Ren Mao, Shi‐Ting Feng   +24 more
wiley   +1 more source

The first report of two cases of fatal liver injury due to anti-tuberculosis drugs in the presence of alpha-1 antitrypsin deficiency

International Journal of Mycobacteriology, 2017
Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation.
Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki   +3 more
doaj   +1 more source

Multi‐omics biomarkers for intestinal infection and inflammation in inflammatory bowel disease: Current evidence, translational challenges, and diagnostic opportunities

Interdisciplinary Medicine, EarlyView.
Prospective multi‐site cohorts, multi‐omics profiling, and computational analysis may help identify biomarker patterns across clinical settings in IBD and superimposed infections. With further mechanistic and clinical validation, these signals could support the development of practical multi‐analyte tools for more precise diagnosis and management ...
Ziyu Yang, Jiayi Yao, Xinxian Zhao, Yan Xu, Yifan Chen, Tianchi Chen, Ying Jian, Min Li   +7 more
wiley   +1 more source

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

BMC Research Notes, 2019
Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa, Arnaldo José Noronha Filho, Rosa Maria Fernambel Marques e Silva, Thaís Ferrari da Cruz, Valeria de Oliveira Monteiro, Margareth Pio, Rogério Lopes Rufino   +6 more
doaj   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Protective role of the alpha-1-antitrypsin in intervertebral disc degeneration

Journal of Orthopaedic Surgery and Research, 2021
Background Intervertebral disc degeneration is a complex disease with high prevalence. It suggests that cell death, senescence, and extracellular matrix degradation are involved in the pathogenesis. Alpha-1 antitrypsin (AAT), a serine protease inhibitor,
Weikun Liu, Yanfu Wang
doaj   +1 more source

Gut function among children treated for severe acute malnutrition: A cohort study in Uganda

JPGN Reports, EarlyView.
Abstract Objectives Impaired gut function in children with severe acute malnutrition (SAM) is associated with morbidity. We aimed to assess changes in six biomarkers representing different domains of gut function among children with complicated SAM during nutritional rehabilitation, and to identify predictors of these changes.
Betty Lanyero, Nicolette Nabukeera–Barungi, Ezekiel Mupere, Bikila S. Megersa, Iris Weidema, Pingping Jiang, Maria Wiese, Musemma K. Muhammed, Henrik Friis, Hanne Frøkiær, Dennis S. Nielsen, Vibeke Brix Christensen, Benedikte Grenov   +12 more
wiley   +1 more source

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

Drug Design, Development and Therapy, 2011
Jennifer A Dickens, David A LomasDepartment of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Cambridge, UKAbstract: Alpha-1-antitrypsin is the most abundant circulating protease inhibitor. It is
Dickens JA, Lomas DA
doaj  

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Orphanet Journal of Rare Diseases
Background Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1.
Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko   +2 more
doaj   +1 more source