Results 61 to 70 of about 24,734 (239)

Testing Alpha-1 Antitrypsin Deficiency in Black Populations

Advances in Respiratory Medicine, 2023
Alpha-1 antitrypsin (AAT) deficiency (AATD) is an under-recognized hereditary disorder and a significant cause of chronic obstructive pulmonary disease (COPD), a disease that contributes to global mortality.
Pascale Lafortune, Kanza Zahid, Magdalena Ploszaj, Emilio Awadalla, Tomás P. Carroll, Patrick Geraghty   +5 more
doaj   +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

α1-Antitrypsin deficiency. [PDF]

, 2016
α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes underdiagnosed or misdiagnosed as asthma, chronic obstructive pulmonary disease ...
Brantly, Mark L, Ferrarotti, Ilaria, Greene, Catherine M, Lomas, David A, Marciniak, Stefan J, McElvaney, Noel G, Stoller, James K, Teckman, Jeffrey   +7 more
core   +2 more sources

Serum alpha-1-antitrypsin level in Iraqi patients with coronary heart disease

مجلة مركز بحوث التقنيات الاحيائية, 2011
This study was designed to estimate the level of serum alpha -1- antitrypsin in patients with coronary heart disease. Patients were clinically subdivided into stable angina 25 patients, unstable angina30 patients and myocardial infarction 50 patients. A
Asmaa M. Salih
doaj   +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

All-atom simulations reveal how single point mutations promote serpin misfolding

, 2018
Protein misfolding is implicated in many diseases, including the serpinopathies. For the canonical inhibitory serpin {\alpha}1-antitrypsin (A1AT), mutations can result in protein deficiencies leading to lung disease, and misfolded mutants can accumulate ...
Beccara, Silvio a, Faccioli, Pietro, Gershenson, Anne, Ianeselli, Alan, Orioli, Simone, Spagnolli, Giovanni, Wang, Fang, Wintrode, Patrick L.   +7 more
core   +1 more source

Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease

Arquivos de Gastroenterologia, 2001
Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic ...
De TOMMASO Adriana Maria Alves, ROSSI Cláudio Lúcio, ESCANHOELA Cecília Amélia Fazzio, SERRA Heliane Guerra, BERTUZZO Carmen Sílvia, HESSEL Gabriel   +5 more
doaj  

Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency

International Journal of COPD, 2020
Kylie BR Belchamber,1 Eloise M Walker,1 Robert A Stockley,1 Elizabeth Sapey1,2 1Birmingham Acute Care Research Group, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; 2NIHR Clinical Research Facility Birmingham, University ...
Belchamber KBR, Walker EM, Stockley RA, Sapey E   +3 more
doaj  

Alpha-1 Antitrypsin Deficiency

CHEST
Meseeha M, Sankari A, Attia M.
europepmc   +3 more sources

Alpha-1-antitrypsin deficiency and liver disease.

Acta Médica Portuguesa, 1981
In this review article only the liver disease associated with aipha-1-antitrypsin deficiency will be considered. For the well recognised association with lung disease the review by Mittman is recommended.
G. H. Millward-Sadler
doaj   +1 more source