Results 51 to 60 of about 24,356 (213)

Severe bilateral descemetoceles in Alpha-1 antitrypsin deficiency. [PDF]

, 2019
PurposeTo report a case of severe bilateral descemetoceles in a patient with alpha-1 antitrypsin (A1AT) deficiency during intensive care unit hospitalization.ObservationsA 42-year-old male presented with sub-acute bilateral vision loss during an ...
Baqai, Jeanine, Ma, Jeffrey
core   +1 more source

Cardiovascular risk in patients with alpha-1-antitrypsin deficiency [PDF]

, 2017
Background: Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease.
Annika Karch, Armin Koch, Björn Kleibrink, Claus F. Vogelmeier, Frank Biertz, Hans-Ulrich Kauczor, Helmut Teschler, on behalf of the COSYCONET investigators, Robert Bals, Rudolf A. Jörres, Sabina Janciauskiene, Sebastian Fähndrich, Timm Greulich, Tobias Welte   +13 more
core   +2 more sources

Severe Occupational Hypersensitivity Pneumonitis: A Case Series of Four Patients Requiring Lung Transplantation

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Hypersensitivity pneumonitis (HP) is an immune‐mediated interstitial lung disease triggered by repeated inhalation of organic or chemical antigens. Occupational exposures account for approximately 19% of all cases. Early diagnosis, identification of the responsible antigen(s), and immediate avoidance of exposure are crucial to prevent ...
Ludwig Frei‐Stuber, Judith Mohren, Ester Mau, Bernhard Werner, Rudolf A. Hatz, Jürgen Barton, Dennis Nowak   +6 more
wiley   +1 more source

Successful Outcome and Biliary Drainage in an Infant with Concurrent Alpha-1-Antitrypsin Deficiency and Biliary Atresia

Case Reports in Surgery, 2017
We describe the rare instance of concomitant biliary atresia and alpha-1-antitrypsin deficiency and the first documented successful portoenterostomy in this scenario.
Andrew W. Wang, Kimberly Newton, Karen Kling   +2 more
doaj   +1 more source

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

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

Augmentation therapy with human alpha-1-proteinase inhibitor reduces exacerbations in patient with bronchiectasis and alpha-1-antitrypsin deficiency

Respiratory Medicine Case Reports, 2022
Alpha-1-antitrypsin deficiency (AATD) is a rare cause of noncystic fibrosis (CF) bronchiectasis. The benefits of augmentation therapy in patients with chronic obstructive pulmonary disease (COPD) and pulmonary emphysema are well established.
Emanuel Buck, Maria Ada Presotto, Judith Brock, Kai Schlamp, Martina Veith, Felix J.F. Herth, Franziska Christina Trudzinski   +6 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 Lipid Nanoparticles for Precision RNA Delivery: Design Principles, Targeting Strategies, and Clinical Prospects

Cancer Nexus, EarlyView.
ABSTRACT Lipid nanoparticles (LNPs) represent the most clinically advanced platform for RNA delivery and have enabled major breakthroughs in vaccines and gene therapies. However, their broader application is still limited by inefficient extrahepatic delivery, immunogenicity, and insufficient control over tissue‐ and cell‐specific targeting. This review
Yu Han, Ying Wang, Xintao Gao, Yan Lei, Yantao Li, Zhiyong Tang   +5 more
wiley   +1 more source

Management of chronic airway diseases:What can we learn from real-life data? [PDF]

, 2017
Chronic obstructive pulmonary disease (COPD), alpha-1 antitrypsin deficiency (AATD) and non-cystic fibrosis bronchiectasis (hereafter referred to as bronchiectasis) are distinct but related airway diseases: COPD is characterised by persistent and usually
Greulich T, James D. Chalmers
core   +3 more sources