Results 101 to 110 of about 30,535,003 (216)

From Single Cells to Diagnosis: Proteomics Technologies in the Multi‐Omics Landscape of Rare and Mitochondrial Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Wetzel et al. outline how individual omics methods contribute to the diagnosis of patients with rare, and particularly mitochondrial diseases, with a focus on how spatial proteomics is joining this multi‐omics stack. ABSTRACT Proteomics by mass spectrometry has rapidly matured from a niche method into a standard tool.
Simon Wetzel, Sebastian Porsdam Mann, Florian A. Rosenberger   +2 more
wiley   +1 more source

Is It Time Alpha-1 Antitrypsin Deficiency Had a Specific Patient Reported Outcome Measure? A Review [PDF]

Joshua De Soyza, Hung-Yeh Chien, Adeola Ayodotun Onasanya, Alice M Turner Institute of Applied Health Sciences, University of Birmingham, Birmingham, UKCorrespondence: Joshua De Soyza, Email j.desoyza@bham.ac.ukAbstract: Alpha-1 antitrypsin deficiency ...
Chien HY, Onasanya AA, De Soyza J, Turner AM   +3 more
core  

European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) steatotic liver disease special interest group position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction‐associated steatotic liver disease

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 3, Page 555-576, September 2026.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common reason for elevated liver enzymes in children in Europe, affecting more than 5% of all children. Since the last iteration of this position paper, there have been substantial advances in our understanding of the disease.
Jake P. Mann, Sander Lefere, Maarten Buytaert, Anna Alisi, Cigdem Arikan, Jernej Brecelj, Rachel M. Brown, Irene Degrassi, Giulia Fiore, Emer Fitzpatrick, Sven Francque, Christian A. Hudert, Wojciech Janczyk, Lauren Johansen, Bart G. Koot, Anastasia Konidari, Eberhard Lurz, Claudia Mandato, Maria Mercadal‐Hally, Hadar Moran‐Lev, Antonella Mosca, Giusy Ranucci, Maria Rogalidou, Penelope C. Rose, Piotr Socha, Pietro Vajro, Elvira Verduci, Anita C. E. Vreugdenhil, Natalia Zavhorodnia, Aglaia Zellos, Ruth De Bruyne   +30 more
wiley   +1 more source

Inter‐tissue relationships of gene expression in liver, muscle and adipose tissue of children with end‐stage chronic liver disease

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 3, Page 500-508, September 2026.
Abstract Objectives End‐stage chronic liver disease in children is associated with sarcopenia and aberrant adipose tissue mass. We investigated correlations between liver pathology‐associated gene pathways (fibrosis, inflammation and steatosis) and metabolic genes in muscle and adipose tissue.
Eirini Kyrana, Cheng Zhang, Han Jin, Siamak Salehi, Jonathan C. K. Wells, Maesha Deheragoda, Ragai R. Mitry, Anil Dhawan   +7 more
wiley   +1 more source

The delay effect of sulfur mustard gas on phenotype and plasma alpha-1-antitrypsin activity in war victim patients

مجله دانشگاه علوم پزشکی گرگان, 2010
Background and Objective: Alpha-1 antitrypsin deficiency is recognized as a etiological base in lung injury. Therefore this study was performed to determine plasma level of alpha-1 antitrypsin in war victims exposed to sulfur mustard gas.
Majid Shohrati (PhD), Navvab Shamspour (MSc), Afshin Mohsenifar (PhD), Mostafa Ghanei (MD)   +3 more
doaj  

The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis

Journal of Education, Health and Sport
Introduction: Alpha-1 antitrypsin (AAT) is a glycoprotein produced by liver, belonging to the serine protease inhibitor family. Alpha-1 antitrypsin deficiency (AATD) is very common autosomal recessive genetic disease caused by point mutation in ...
Dawid Kościołek, Michał Urbaś, Martyna Kępczyk, Aleksandra Kościołek, Kaja Surowiecka, Jakub Misiak, Miłosz Ojdana, Konrad Szalbot, Mikołaj Tokarski, Natalia Marczak   +9 more
doaj   +1 more source

Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review

, 2017
Ross G Edgar,1,2 Mitesh Patel,3 Susan Bayliss,4 Diana Crossley,2,5 Elizabeth Sapey,2,5 Alice M Turner4,6 1Therapy Services, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK; 2Institute of Inflammation and Ageing, University of ...
Edgar RG, Crossley D, Bayliss S, Patel M, Sapey E, Turner AM   +5 more
core  

Recurrent and De Novo Cirrhosis After Liver Transplantation

Portal Hypertension &Cirrhosis, Volume 5, Issue 3, Page 207-213, September 2026.
Schematic illustrating the development of cirrhosis after liver transplantation for cirrhosis. Following transplantation of a healthy donor graft, cirrhosis may develop either through recurrence of the original liver disease (recurrent cirrhosis) or through development of a different liver disease in the transplanted graft (de novo cirrhosis). ABSTRACT
Abhinav K. Rao, Don C. Rockey
wiley   +1 more source

Alpha-1 proteinase inhibitors for the treatment of alpha-1 antitrypsin deficiency: safety, tolerability, and patient outcomes

, 2015
Sanjay H Chotirmall,1 Mazen Al-Alawi,2 Thomas McEnery,2 Noel G McElvaney2 1Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; 2Department of Respiratory Medicine, Beaumont Hospital, Dublin, Republic of Ireland Abstract ...
Chotirmall SH, McEnery T, McElvaney NG, Al-Alawi M   +3 more
core  

Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis [PDF]

Background: Alpha-1 antitrypsin is encoded by the polymorphic SERPINA1 gene, with pathogenic variants causing alpha-1 antitrypsin deficiency.
García-Zafra, Laura, García-Gutiérrez, Almudena, del Castillo-Díez, Enrique, Perales-Afán, Juan José, Torralba-Cabeza, Miguel Ángel, Menao, Sebastián   +5 more
core   +1 more source