Results 71 to 80 of about 8,302 (215)

Cochlear implantation and audiological findings in a child with Zellweger spectrum disorder

Otolaryngology Case Reports, 2023
Peroxisome Biogenesis Disorders in the Zellweger Spectrum (PBD-ZSD) are autosomal recessive disorders characterized by defects in functional peroxisomes.
Amit Walia, Amy Lynn Birath, Craig A. Buchman   +2 more
doaj   +1 more source

Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses

Analytical Cellular Pathology, Volume 2026, Issue 1, 2026.
Naegleria fowleri, the brain‐eating ameba, causes primary amebic meningoencephalitis (PAM), a fatal infectious disease that affects the central nervous system (CNS). We aimed to evaluate the functions and potential drugs targeting PAM using text mining and bioinformatics analyses.
Eun Jung Sohn, Hyeonseo Jo, Kun Taek Park, Andrey Elchaninov   +3 more
wiley   +1 more source

Peroxisomal regulation of redox homeostasis and adipocyte metabolism [PDF]

, 2019
Peroxisomes are ubiquitous cellular organelles required for specific pathways of fatty acid oxidation and lipid synthesis, and until recently their functions in adipocytes have not been well appreciated.
Klein, Samuel, Liu, Jingjing, Lu, Wen, Shi, Bimin, Su, Xiong   +4 more
core   +1 more source

Insights into the pulmonary vascular complications of heart failure with preserved ejection fraction [PDF]

, 2019
Pulmonary hypertension in the setting of heart failure with preserved ejection fraction (PH-HFpEF) is a growing public health problem that is increasing in prevalence.
Gladwin, Mark T., Lai, Yen‐Chun, Wang, Longfei   +2 more
core   +1 more source

Oral pretreatment with Escherichia coli Nissle 1917 enhances the host's defense against influenza A virus infection

mLife, Volume 4, Issue 6, Page 664-680, December 2025.
Abstract Influenza A viruses (IAVs) pose a significant threat to global health, causing annual epidemics and occasional pandemics with substantial morbidity and mortality. Despite the availability of vaccines and antiviral therapies, the development of novel preventive and therapeutic strategies remains a critical research focus.
Di Wang, Longhai Yu, Qi Lu, Meiqing Han, Baikui Wang, Xianqi Peng, Min Yue, Yan Li   +7 more
wiley   +1 more source

Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor

BMC Pediatrics, 2004
Background Zellweger syndrome (ZS) is a fatal inherited disease caused by peroxisome biogenesis deficiency. Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial ...
Breitling Rainer
doaj   +1 more source

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof, Hugo P. Lantinga, Gonnie Alkemade, Annet M. Bosch, Marion M. Brands, Danique Draaisma‐van Vliet, Andrea B. Haijer‐Schreuder, Eva M. M. Hoytema van Konijnenburg, Mirian C. H. Janssen, Melanie M. van der Klauw, Mirjam Langeveld, Charlotte M. A. Lubout, Sonja L. van Ockenburg, Esmeralda Oussoren, Bianca Panis, Barbara Sjouke, Maaike de Vries, Margreet A. E. M. Wagenmakers, Mark Wijnen, Deborah A. Sival, Marina A. J. Tijssen, Tom J. de Koning, Lisette H. Koens   +22 more
wiley   +1 more source

Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome

Pediatrics and Neonatology, 2017
Background: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. The incidence of this disease in Africa and the Arab world remains unknown.
Fahmi Nasrallah, Wiem Zidi, Moncef Feki, Samia Kacem, Neji Tebib, Naziha Kaabachi   +5 more
doaj   +1 more source

Diagnostic accuracy of single baseline measurement of Elecsys Troponin T high-sensitive assay for diagnosis of acute myocardial infarction in emergency department: systematic review and meta-analysis [PDF]

, 2015
Published onlineJournal ArticleMeta-AnalysisResearch Support, Non-U.S. Gov'tReviewOBJECTIVE: To obtain summary estimates of the accuracy of a single baseline measurement of the Elecsys Troponin T high-sensitive assay (Roche Diagnostics) for the diagnosis
Coelho, H, Fleming, S, Hyde, C, Jones-Hughes, T, Nikolaou, V, Rogers, M, Slade, T, Youngman, E, Zhelev, Z   +8 more
core   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source