Results 71 to 80 of about 24,349 (147)

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

High BMI and COPD Outcomes in Alpha-1 Antitrypsin DeficiencyTake-Home Points

CHEST Pulmonary
Background: Elevations in BMI impact morbidity in patients with COPD in general, but little is known about its impact in patients with COPD due to alpha-1 antitrypsin deficiency (AATD-COPD).
Michael A. Campos, MD, Leonard Riley, MD, Jorge Lascano, MD, Brian Garnet, MD, Robert Sandhaus, MD, PhD   +4 more
doaj   +1 more source

Alpha 1 Antitrypsin Therapy in Patients with Alpha 1 Antitrypsin Deficiency: Perspectives from a Registry Study and Practical Considerations for Self-Administration During the COVID-19 Pandemic

International Journal of COPD, 2021
Felix JF Herth,1 Robert A Sandhaus,2 Alice M Turner,3 Maria Sucena,4 Tobias Welte,5 Timm Greulich6 1Department of Pneumology and Critical Care Medicine, University of Heidelberg, Heidelberg, Germany; 2Division of Pulmonary, Critical Care and Sleep ...
Herth FJF, Sandhaus RA, Turner AM, Sucena M, Welte T, Greulich T   +5 more
doaj  

Дефицит альфа-1-антитрипсина: генетические основы, эпидемиология, значение в развитии бронхо-легочной патологии [PDF]

, 2015
альфа-1-антитрипсинбронхолегочная дисплазияКРОВИ СЫВОРОТКАмутациягенная ...
Даниленко, Н. Г., Жигальцов, А. М., Жигальцова-Кучинская, О. А., Метельский, С. М., Нагорнов, И. В., Сивицкая, Л. Н.   +5 more
core  

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

Estimates of the Prevalence and Number of Fibromyalgia Syndrome Patients and Their Alpha-1 Antitrypsin Phenotypic Distributionin Ten Countries [PDF]

, 2009
During the last few years, clinical, epidemiological, and pathological evidence has suggested that inherited alpha-1 antitrypsin [AAT] deficiency might play a role in the development of the fibromyalgia syndrome [FMS], probably because of the loss of AAT
Arbesú, Daniel, Astudillo, Aurora, Blanco, Ignacio, Cárcaba, Victoriano, Fernández, Enrique, Janciauskiene, Sabina, Nita, Izabela, Serres, F.J. (Frederick)   +7 more
core  

Portacaval shunt in three children with alpha‐1‐antitrypsin deficiency and cirrhosis: 9 to 12⅓ years later [PDF]

, 1990
Busuttil, RW, Pichlmayr, R, Porter, KA, Starzl, TE   +3 more
core   +1 more source

Deficiência de alfa-1-antitripsina na doença pulmonar obstrutiva crónica [PDF]

, 2009
Introdução – A deficiência de alfa-1-antitripsina é uma das alterações genéticas graves encontradas por todo o mundo. Porém, permanece subdiagnosticada, apesar da forte predisposição à doença pulmonar obstrutiva crónica que condiciona.
Cardoso, Patrícia Neves
core  

Serum Alpha-1 Antitrypsin Levels and the Clinical Course of Chronic Obstructive Pulmonary Disease

International Journal of COPD, 2019
Nozomu Takei,1,* Masaru Suzuki,1,* Hironi Makita,2 Satoshi Konno,1 Kaoruko Shimizu,1 Hiroki Kimura,1 Hirokazu Kimura,1 Masaharu Nishimura1,2 1Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University ...
Takei N, Suzuki M, Makita H, Konno S, Shimizu K, Kimura H, Kimura H, Nishimura M   +7 more
doaj