Results 121 to 130 of about 459,657 (249)

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

Alpha 1-Antitrypsin-Labor und Alpha 1-Antitrypsin-Register [PDF]

Pneumologie, 2004
R. Bals, C. Vogelmeier
openaire   +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

Association Between Autoimmune Thyroiditis and Cervical Artery Dissection: A Retrospective Cohort Study

Health Science Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background and Aims Limited evidence suggests autoimmune thyroiditis (AT) could represent a risk factor for cervical artery dissection (CeAD). We tested the hypothesis of a positive association between AT and CeAD within 3 years following diagnosis compared to matched euthyroid controls.
Robert J. Trager, Pratheek S. Makineni, Debbie S. Wright   +2 more
wiley   +1 more source

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 346, Issue 2, Page 107-127, March 2026.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals

Journal of Inflammation Research, 2018
Danielle M Dunlea, Laura T Fee, Thomas McEnery, Noel G McElvaney, Emer P Reeves Irish Centre for Genetic Lung Disease, Department of Medicine, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland Abstract: Alpha-1 antitrypsin (AAT) is
Dunlea DM, Fee LT, McEnery T, McElvaney NG, Reeves EP   +4 more
doaj  

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source