Results 51 to 60 of about 21,364 (157)

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 distribution in an allergic asthmatic population sensitized to house dust mites

Clinical and Translational Allergy, 2018
Background and objective Severe alpha1 antitrypsin deficiency has been clearly associated with pulmonary emphysema, but its relationship with bronchial asthma remains controversial. Some deficient alpha 1 antitrypsin (AAT) genotypes seem to be associated
I. Suárez-Lorenzo, F. Rodríguez de Castro, D. Cruz-Niesvaara, E. Herrera-Ramos, C. Rodríguez-Gallego, T. Carrillo-Diaz   +5 more
doaj   +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  

When protein losing enteropathy persists: A case series of viral and lymphatic‐associated etiologies

JPGN Reports, EarlyView.
Abstract Protein‐losing enteropathy (PLE) is a rare condition that is characterized by loss of plasma protein in the intestines leading to hypoproteinemia with subsequent peripheral edema and possibly anasarca. The pathophysiology of PLE varies depending on the etiology and involves either intestinal mucosal injury or lymphatic system alterations ...
Natalie Jennings, Antonia C. Rovira, Pamela Castillo Rocha, Janelle Torres, Claudia M. Salgado, Miguel Reyes‐Múgica, Richard N. Arboleda, Fatima S. Hussain   +7 more
wiley   +1 more source

Alpha-1 antitrypsin deficiency-associated panniculitis: a case report

Zdravniški Vestnik
Alpha-1 antitrypsin deficiency is a hereditary disorder with predominantly pulmonary but also extrapulmonary manifestations. In the skin, it is associated with panniculitis, a necrotizing neutrophilic inflammation in the subcutis. Clinically, it presents
Špela But, Maja Jerše, Pij Bogomir Marko   +2 more
doaj   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Alpha 1 Antitrypsin Deficiency Pathophysiology, Symptoms, Diagnosis, Treatment

Quality in Sport
Introduction: This review paper aims to emphasize how Alpha-1-antitrypsin deficiency is how can lead to serious disease states, indicating the pathophysiology, symptoms, diagnostic possibilities, therapeutic methods and proving that early diagnostics for
Kamil Kościelecki, Agnieszka Kalisz, Aleksandra Okońska, Julia Kozakiewicz, Iwona Skorulska, Patrycja Długozima, Aleksandra Głowacka, Weronika Barbara Grywińska, Paulina Grzeszczuk, Klaudia Mączewska   +9 more
doaj   +1 more source

Protein glycosylation in lung cancer from a mass spectrometry perspective

Mass Spectrometry Reviews, EarlyView.
Abstract Lung cancer is a severe disease for which better diagnostic and therapeutic approaches are urgently needed. Increasing evidence implies that aberrant protein glycosylation plays a crucial role in the pathogenesis and progression of lung cancer.
Mirjam Balbisi, Simon Sugár, Lilla Turiák   +2 more
wiley   +1 more source

A comparative proteomic analysis of bile for biomarkers of cholangiocarcinoma

Tumor Biology, 2017
Cholangiocarcinoma is a primary malignant tumor of the bile duct epithelium. Cholangiocarcinoma is usually detected at an advanced stage when successful treatment is no longer possible.
Marut Laohaviroj, Jeremy Potriquet, Xinying Jia, Sutas Suttiprapa, Yaovalux Chamgramol, Chawalit Pairojkul, Paiboon Sithithaworn, Jason Mulvenna, Banchob Sripa   +8 more
doaj   +1 more source