Results 111 to 120 of about 32,709 (226)

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

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

Molecular Oncology, Volume 20, Issue 3, Page 668-687, March 2026.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici, Soheil Akbari, Ceyda Caliskan, Canan Celiker, Ozden Oz, Leman Binokay, Gökhan Karakulah, Serif Senturk, Esra Erdal   +8 more
wiley   +1 more source

Evolution of Prime Editing: Enhancing Efficiency and Expanding Capacity

Advanced Science, Volume 13, Issue 16, 18 March 2026.
Most rare diseases are caused by genetic mutations. Prime editing (PE) has emerged as a versatile tool capable of inducing diverse mutations without generating DNA double‐strand breaks. Despite its significant clinical potential, PE faces limitations in terms of efficiency and scalability.
Jihyeon Yu, Ju‐Chan Park, Heesoo Uhm, Yong‐Woo Kim, Hyeon Woo Im, Sangsu Bae   +5 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

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
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Non‐Syndromic Paucity of Interlobular Bile Ducts (NSPIBD) Presenting as Neonatal Cholestasis in an Infant With Down Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Non‐syndromic paucity of interlobular bile ducts (NSPIBD) is a rare cause of neonatal cholestasis, often presenting with clinical features similar to extrahepatic biliary atresia. This report presents a case of NSPIBD in an infant with Down syndrome who exhibited jaundice and pale stools.
Pui Ling Thong, Nurfirdaus Musa, Nurul Husna Mohd Dani, Zurina Zainuddin   +3 more
wiley   +1 more source

Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Kartagener's Syndrome (KS), a rare autosomal recessive disorder and a subset of Primary Ciliary Dyskinesia (PCD), is characterized by chronic sinusitis, bronchiectasis, and, in approximately 50% of cases, situs inversus. This condition arises from genetic mutations that impair motile cilia function, leading to defective mucociliary clearance ...
Ibrahim Khalil, Sakib Abrar, Shah Tanvir Ahmed, Md. Imran Hossain   +3 more
wiley   +1 more source

Inflammation in Idiopathic Intracranial Hypertension: An Immunometabolic Mechanistic Framework and Clinical Implications

CNS Neuroscience &Therapeutics, Volume 32, Issue 3, March 2026.
Systemic metabolic dysfunction and comorbidities may act as upstream modulators converging on inflammatory activation, which is closely intertwined with excessive CSF production and impaired clearance, potentially contributing to sustained ICP elevation.
Guangyu Han, Jiahao Song, Shuling Wan, Xunming Ji, Da Zhou, Ran Meng   +5 more
wiley   +1 more source

Engineered Probiotics: The Next‐Generation Therapeutics to Combat Antibiotic‐Resistant Bacterial Infections

Food Frontiers, Volume 7, Issue 2, March 2026.
Engineered probiotics secretes fusion proteins which potentially neutralized the toxins secreted by other microbial communities. ABSTRACT On a global scale, the escalating burden of infectious diseases, predominantly attributed to bacterial pathogens, especially drug‐resistant strains, has progressed into a critical concern for clinical management and ...
Indu Singh, Raz Abdulqadir, Indira Kumari Verma, Yashika Awasthi, Arun Ratn, Juhi Sharma, Manmeet Rawat, Megh Singh Dhakad, Jasbir Dalal, Yash Gupta, Bhisham Narayan Singh, Divakar Sharma   +11 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
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