Results 111 to 120 of about 24,588 (238)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 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

Reduction in Synaptic Vesicle Protein Abundance but Increased Amounts of Nsg2 and Lpcat1 in Cerebral Cortices Without the Endosomal SNARE Proteins Vti1a and Vti1b

PROTEOMICS, Volume 26, Issue 5, Page 86-97, May 2026.
ABSTRACT Absence of the endosomal SNAREs vti1a and vti1b results in perinatal death and severe neuronal phenotypes in mice, while lack of one of these proteins results in minor phenotypes. Proteomic differences were investigated to obtain a deeper insight into processes in which vti1a and vti1b are involved.
Julia Gottschalk, Katharina Kotschnew, Julia Hahn, Thomas Patschkowski, Gabriele von Fischer von Mollard   +4 more
wiley   +1 more source

Decellularized Aged Bruch's Membrane Confers Unique Biochemical Cues to Retinal Pigment Epithelium for In Vitro Modeling of Age‐Related Macular Degeneration

Aging Cell, Volume 25, Issue 5, May 2026.
A Bruchs membrane (BrM) mimic based on aged decellularized BrM was developed and differentially expressed proteins in aged dECM‐BrM that may provide specific biochemical cues fundamental to model AMD in vitro were identified. RPE culture on aged dECM‐BrM developed certain AMD‐like features including reduced TEER and expression of drusen components ...
Blanca Molins, Mercedes Soledad Nabaes Jodar, Eliandre de Oliveira, Josep Maria Estanyol, Esther Peña, Jaione Bezunartea, María Hernández, Marc Figueras‐Roca, Alfredo Adan   +8 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

The Alpha‐1 Pi*MZ Genotype Is an Independent Risk Factor for Hepatocellular Carcinoma Development in Patients With ACLD

Alimentary Pharmacology &Therapeutics, Volume 63, Issue 10, Page 1380-1389, May 2026.
Alpha‐1 antitrypsin deficiency is a genetic disease that affects the lungs and the liver. The role of the heterozygous genetic defect in the development of liver cancer in patients with cirrhosis is unclear. Our study found that carrying the Pi*MZ genotype increases the risk of developing liver cancer.
Lorenz Balcar, Georg Semmler, Bernhard Scheiner, Rafael Paternostro, Benedikt Simbrunner, Tina Jasmin Haunold, Mathias Jachs, Lukas Hartl, Benedikt Silvester Hofer, Nina Dominik, Michael Schwarz, Georg Kramer, Christian Sebesta, Paul Thöne, Matthias Pinter, Michael Trauner, Thomas Reiberger, Albert Friedrich Stättermayer, Mattias Mandorfer   +18 more
wiley   +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  

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

Alpha-1-antitrypsin deficiency.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1971
No ...
Kanarek, D.J., Zwi, S, Milne, F.J., Goldman, H.I.   +3 more
openaire   +2 more sources

Meta‐Analysis: Prevalence and Incidence of Gastroparesis Following Lung or Heart Transplantation

Alimentary Pharmacology &Therapeutics, Volume 63, Issue 10, Page 1348-1359, May 2026.
Gastroparesis occurs in nearly one‐third of lung and heart‐lung transplant recipients (pooled prevalence 31.9%; incidence 25.7%), driven by surgical complexity, perioperative opioid exposure, and diagnostic criteria. Standardized gastric emptying assessment and multidisciplinary management, including opioid minimization, immunosuppressant optimization,
Mohamed H. Eldesouki, Mohamed Mahmoud Marey, Mohamed Ahmed Ali, Amany Mahmoud Genidy, Mohamed Hesham Gamal, Ali M. Othman, Ahmed N. Mohamed, Ahmed Al Qady, Manuel A. Amaris, Amol Sharma   +9 more
wiley   +1 more source