Results 111 to 120 of about 24,735 (239)

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  

Genetic variants underlying precancerous conditions of hepatocellular carcinoma

International Journal of Cancer, Volume 158, Issue 3, Page 488-502, 1 February 2026.
Abstract Hepatocellular carcinoma (HCC) is the most common form of liver cancer, accounting for 80% of cases worldwide. While chronic hepatitis B and C infections remain primary risk factors, emerging evidence highlights the increasing contributions of metabolic dysfunction‐associated steatotic liver disease (MASLD) and alcohol‐associated liver disease
Jonathan Jaime G. Guerrero, Paolo C. Encarnacion, Mark Angelo S. del Rosario, Matthew Aldren S. Ora, Jiayan Zhou, Kin Israel Notarte, Wan‐Chun Li, Ching‐Wen Chang   +7 more
wiley   +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

Tissue‐Derived Extracellular Vesicles Define Diagnostic Biomarkers for Renal Cell Carcinoma

Journal of Extracellular Vesicles, Volume 15, Issue 2, February 2026.
Tissue‐derived EVs reveal renal cell carcinoma subtype biomarkers (NDUFA4L2/VEGFA/APOC1). Validated in urinary EVs (AUC 0.92), these markers originate from cancer cells and tumour‐associated macrophages via scRNA‐seq, enabling non‐invasive diagnosis and mechanistic insights into RCC progression.
Xinrui Wu, Jiale Zhou, Chen Jiang, Wenjin Chen, Zehong Peng, Tianyang Wu, Yang Ge, Xinxing Du, Cong Hu, Xiaorong Wu, Jiwei Huang, Jin Zhang, Xingang Cui, Wei Xue, Yonghui Chen, Liang Dong   +15 more
wiley   +1 more source

Clinical presentation, treatment, and outcome of children with primary intestinal lymphangiectasia: A national retrospective study

Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 2, Page 398-406, February 2026.
Abstract Objectives Primary intestinal lymphangiectasia (PIL) is a very rare disease responsible for protein‐losing enteropathy. There is little published data about treatments efficacy and outcomes. Our main objective was to describe the clinical profile, response to therapy, and outcomes of children with PIL.
Noémie Goret, Cécile Lambe, Emmanuelle Ecochard‐Dugelay, Alexandre Fabre, Alain Dabadie, Aurélie Comte, Julie Rebeuh, Pierre Poinsot, Emilie Chaillou, Haude Clouzeau, Aurélie Sabard, Béatrice Dubern, Stéphanie Willot   +12 more
wiley   +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  

DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report

JPGN Reports, Volume 7, Issue 1, Page 11-13, February 2026.
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive primary immunodeficiency. Patients with DOCK8 deficiency typically present at early age with allergic manifestations, cutaneous and respiratory infections, raised immunoglobulin E, and they have an increased risk of developing malignancies.
Natalia Nedelkopoulou, Kelechi Ugonna, Stephen Hughes, Sanjay Rajwal, Marumbo Mtegha   +4 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  

Pediatric intestinal pseudo‐obstruction found in 3‐year‐old male with Rett‐related mutation of methyl‐CpG binding protein 2

JPGN Reports, Volume 7, Issue 1, Page 44-46, February 2026.
Abstract A 3‐year‐old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo‐obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam.
Angela Tran, Namrata Patel‐Sanchez
wiley   +1 more source