Results 71 to 80 of about 15,020 (214)

Diagnosis and augmentation therapy for alpha-1 antitrypsin deficiency: current knowledge and future potential

, 2023
The underdiagnosis of alpha-1 antitrypsin (AAT) deficiency (AATD) has been recognized for many years, yet little progress has been made in treatment of the disease.
Paulo Henrique Feitosa
core   +1 more source

Modeling Hereditary Angioedema With Personalized EPSC‐Derived Hepatocytes: A CRISPR‐Validated Platform for Mutation‐Specific Mechanisms and Therapeutic Innovation

Allergy, EarlyView.
Patient‐derived expanded potential stem cell (EPSC) hepatocytes reveal that pathogenic SERPING1 variants cause distinct cellular defects in hereditary angioedema. While most mutations reduce SERPING1 transcription and C1‐INH secretion, a large deletion induces intracellular C1‐INH retention.
Xueyan Liu, Yuxin Wang, Jane C. Y. Wong, Xiang Zhang, Cuixi Wu, Pengyu Chen, Yunzhi Yang, Pentao Liu, Chak Sing Lau, Matthew Cook, Philip Hei Li   +10 more
wiley   +1 more source

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 more
wiley   +1 more source

Narrative Review on Therapies That Influence Inflammatory Responses During Extremely Premature Perinatal Respiratory Transition

Acta Paediatrica, EarlyView.
ABSTRACT Aims and Methods Advances in neonatal care have extended borderline survival to 22–24 post‐conceptional weeks. Present review discusses approaches for prolonging short pregnancies and prevention of serious morbidities in extremely premature infants born before 28 weeks of pregnancy.
Mikko Hallman
wiley   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Potential health benefits of cold‐water immersion: the central role of PGC‐1α

The Journal of Physiology, EarlyView.
Abstract figure legend Cold‐water immersion (CWI) elicits autonomic, somato‐motoric (shivering thermogenesis), endocrine and metabolic, sensory transduction, and local biophysical effects that may converge on the transcriptional co‐activator PGC‐1α (centre).
Erich Hohenauer, Wafa Douzi, Johannes Burtscher   +2 more
wiley   +1 more source

Biofluid Biomarkers of Cognitive Functioning in Bipolar Disorder: A Systematic Review by the Targeting Cognition and Older‐Age Bipolar Disorder ISBD Task Forces

Bipolar Disorders, Volume 28, Issue 5, August 2026.
ABSTRACT Background Cognitive impairment is common in bipolar disorder (BD), but the underlying pathophysiology remains unclear. This systematic review aimed to (1) summarize all literature describing relationships of biofluid biomarkers and cognition in BD and (2) identify which biofluid biomarkers correlate most consistently with cognition in BD ...
Alexandra J. M. Beunders, Sigfried N. T. M. Schouws, Andrew T. Olagunju, Vicent Balanzá‐Martínez, Nicole C. M. Korten, Ralph W. Kupka, Katherine E. Burdick, Andre F. Carvalho, Ariel G. Gildengers, Lars V. Kessing, Roger S. McIntyre, Paula V. Nunes, Ayal Schaffer, Ivan J. Torres, Shang‐Ying Tsai, Tamsyn E. Van Rheenen, Eduard Vieta, Lakshmi N. Yatham, Allan H. Young, Lisa T. Eyler, Kamilla W. Miskowiak, Annemiek Dols   +21 more
wiley   +1 more source

Diagnosis of alpha-1 antitrypsin deficiency: a population-based study

, 2016
Miriam Barrecheguren,1,2 Mónica Monteagudo,3 Pere Simonet,3–5 Carl Llor,6 Esther Rodriguez,1,7 Jaume Ferrer,1,2,7 Cristina Esquinas,1 Marc Miravitlles1,2,7 1Department of Pneumology, Vall d´Hebron University Hospital, 2Medicine ...
Llor C, Ferrer J, Barrecheguren M, Esquinas C, Monteagudo M, Miravitlles M, Rodriguez E, Simonet P   +7 more
core  

Alpha 1 antitrypsin deficiency in non cystic fibrosis bronchiectasis

Egyptian Journal of Chest Disease and Tuberculosis, 2013
Setting: It is important to identify manifestations of alpha1-antitrypsin deficiency (A1ATD) in bronchiectasis to improve care and outcome in these patients.
Mohamed Shahat Badawy, Atef Farouk El Qarn, Hamdy Ali Mohamadeen   +2 more
doaj   +1 more source

A Review of Breath Sensing for Disease Monitoring and Diagnosis: Breathomics, Artificial Intelligence, and Nanomaterials for the Future of Medicine

Advanced Sensor Research, Volume 5, Issue 7, July 2026.
Breathomics is established as a non‐invasive diagnostic strategy by combining volatile organic compound biomarkers, nanomaterial‐based sensor arrays, and AI‐driven classification. Key diseases, sensing materials, and analytical challenges are critically compared, revealing how portable, data‐enabled breath platforms are moving toward clinically useful ...
Anesu Nyabadza, Mayur Makhesana, Suman Chatterjee, Dermot Brabazon   +3 more
wiley   +1 more source