Results 71 to 80 of about 42,298 (257)

Late Onset Telomere Biology Disorder Presenting With Pancytopenia, Immune Dysregulation, Interstitial Lung Disease and Alopecia

American Journal of Hematology, EarlyView.
Bo A. Wan, Hamish Nicolson, Heather A. Leitch, Ryan J. Stubbins, Luke Y. C. Chen, Timothy Murray, Amy Trottier, Anthony Gador   +7 more
wiley   +1 more source

Hepatopulmonary syndrome as presentation of pediatric metabolic dysfunction‐associated steatohepatitis

JPGN Reports, EarlyView.
Abstract Childhood obesity is rising and leading to serious co‐morbidities, among which is metabolic dysfunction‐associated steatotic liver disease (MASLD) predisposing individuals to cirrhosis. We describe a young 11‐year‐old Hispanic male who presented with hepatopulmonary syndrome secondary to cirrhotic portal hypertension from metabolic dysfunction‐
Shruti Sakhuja, Stacey S. Beer, Kalyani R. Patel, Alexiss M. Williams, Nhu Thao Galvan, John A. Goss, Krupa R. Mysore   +6 more
wiley   +1 more source

Protein changes as robust signatures of fish chronic stress: a proteomics approach to fish welfare research [PDF]

, 2020
Background Aquaculture is a fast-growing industry and therefore welfare and environmental impact have become of utmost importance. Preventing stress associated to common aquaculture practices and optimizing the fish stress response by ...
Cerqueira, Marco, Farinha, Ana Paula, Kuehn, Annette, Planchon, Sébastien, Raposo de Magalhães, Cláudia, Revets, Dominique, Rodrigues, Pedro, Schrama, Denise   +7 more
core  

Urinary proteomics using capillary electrophoresis coupled to mass spectrometry for diagnosis and prognosis in kidney diseases [PDF]

, 2016
Purpose of review: Urine is the most useful of body fluids for biomarker research. Therefore, we have focused on urinary proteomics, using capillary electrophoresis coupled to mass spectrometry, to investigate kidney diseases in recent years.
Magalhães, Pedro, Mischak, Harald, Zürbig, Petra   +2 more
core   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

Pulmonology
Introduction and objectives Asthma is a chronic inflammatory disease of the airways. Asthma patients may experience potentially life-threatening episodic flare-ups, known as exacerbations, which may significantly contribute to the asthma burden. The Pi*S
Elena Martín-González, José M. Hernández-Pérez, José A. Pérez Pérez, Javier Pérez-García, Esther Herrera-Luis, Ruperto González-Pérez, Orelvis González-González, Elena Mederos-Luis, Inmaculada Sánchez-Machín, Paloma Poza-Guedes, Olaia Sardón, Paula Corcuera, María J. Cruz, Francisco J. González-Barcala, Carlos Martínez-Rivera, Joaquim Mullol, Xavier Muñoz, José M. Olaguibel, Vicente Plaza, Santiago Quirce, Antonio Valero, Joaquín Sastre, Javier Korta-Murua, Victoria del Pozo, Fabián Lorenzo-Díaz, Jesús Villar, María Pino-Yanes, Mario A. González-Carracedo   +27 more
doaj   +1 more source

Distinct emphysema subtypes defined by quantitative CT analysis are associated with specific pulmonary matrix metalloproteinases. [PDF]

, 2016
BACKGROUND: Emphysema is characterised by distinct pathological sub-types, but little is known about the divergent underlying aetiology. Matrix-metalloproteinases (MMPs) are proteolytic enzymes that can degrade the extracellular matrix and have been ...
Bourne, S, Coombs, NA, Elkington, PT, Estepar, RS, Harden, S, Kim, V, Ostridge, K, Staples, KJ, Washko, G, Wilkinson, TM, Williams, N   +10 more
core   +1 more source

Alpha-1 Antitrypsin Augmentation Therapy

COPD: Journal of Chronic Obstructive Pulmonary Disease, 2013
The therapy of alpha-1 antitrypsin deficiency (AATD) is an example of a medical triumph over a common hereditary disease. Based on the understanding of the pathogens of the disease as a deficiency in liver production of alpha-1 antitrypsin (AAT) resulting from inherited genetic variation in both parental AAT genes, the knowledge that A1AT functions ...
Mark D, Wewers, Ronald G, Crystal
openaire   +2 more sources

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications

International Journal of COPD, 2018
Kenneth R Chapman,1 Joanna Chorostowska-Wynimko,2 A Rembert Koczulla,3 Ilaria Ferrarotti,4 Noel G McElvaney5 1Department of Medicine, University of Toronto, Toronto, ON, Canada; 2Department of Genetics and Clinical Immunology, National Institute of ...
Chapman KR, Chorostowska-Wynimko J, Koczulla AR, Ferrarotti I, McElvaney NG   +4 more
doaj  

Alpha 1 “Hereditary Emphysema” Experience: A Patient–Physician Perspective

Pulmonary Therapy, 2020
This article is co-authored by a patient living with alpha-1 antitrypsin deficiency, and her treating physician. The commentary article describes the patient’s experience of the diagnosis and treatment process.
Katie Moyer, Kamyar Afshar
doaj   +1 more source