Results 81 to 90 of about 40,084 (217)

Real‐World Effectiveness and Safety of Pegzilarginase Treatment in Arginase 1 Deficiency

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Pegzilarginase is the first disease‐modifying drug for arginase 1 deficiency. In clinical trials, pegzilarginase effectively normalised plasma arginine (pArg), which was associated with clinically relevant improvements in neuromotor outcomes. We report from a French early access scheme the first report on experience from pegzilarginase therapy
Anaïs Brassier, Alina Arion, Jean‐Baptiste Arnoux, Magalie Barth, Dries Dobbelaere, Magali Gorce, Michael Grövdal, Cécile Laroche, Olivia Rime, Manuel Schiff, Mattias Rudebeck   +10 more
wiley   +1 more source

Dysregulation of CD39/Ectonucleoside Triphosphate Diphosphohydrolase 1 Causes Urinary Bladder Dysfunction with Abnormal Smooth Muscle Contractility

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
Abnormal extracellular ATP levels cause lower urinary tract symptoms (LUTS). Here, we demonstrate that overexpression of ENTPD1 (CD39TG)—an ATP/ADP converting enzyme—reduces voiding frequency while increasing void volume. Conversely, ENTPD1 deficiency results in frequent, small‐volume voiding.
Zhaobo Luo, Huan Chen, Ali Wu, Weipu Mao, Sagar Barge, Seth L. Alper, Simon C. Robson, Weiqun Yu   +7 more
wiley   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Beta Thalassemia Major as a Rare Cause of Spontaneous Spinal Epidural Hemorrhage

Indian Spine Journal
Spontaneous spinal epidural hematoma (SSEH) is a rare neurosurgical emergency with paucity of data in understanding the pathogenesis. SSEH can be devastating to the patients as it causes permanent paraplegia if not treated in a timely manner.
Monali M. Patil, Pandurang Barve, Trimurti D. Nadkarni, Karansinh R. Parve Patil   +3 more
doaj   +1 more source

Spontaneous Thoracic Spinal Epidural Hematoma: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Spontaneous spinal epidural hematoma (SSEH) is a rare but potentially devastating clinical condition characterized by hemorrhage within the epidural space. To date, approximately 300 cases have been reported worldwide, and the exact etiology remains unclear.
Yinbin Wang, Mingyan Yang, Lijun Cai, Desheng Chen   +3 more
wiley   +1 more source

Clinical Outcome Associated With Beta‐Lactam Allergy Labels in Hospitalized Patients in Belgium

Clinical and Translational Allergy, Volume 16, Issue 4, April 2026.
ABSTRACT Background In the United States, beta‐lactam allergy labels (BLAL) are documented in 9%–16% of hospitalized patients and associated with worse clinical outcomes such as increased mortality, length of hospital stay (LOS), intensive care unit (ICU) admission, and use of alternative antibiotics, providing an incentive for broad delabeling ...
Liesbeth Gilissen, Greet Van De Sijpe, Annouschka Laenen, Peter Declercq, Dries Wets, Ileana Ghiordanescu, Anca Mirela Chiriac, Willy E. Peetermans, Paul De Munter, Isabel Spriet, Rik Schrijvers   +10 more
wiley   +1 more source

Improving Oral Health After Spinal Cord Injury: A Scoping Review of Barriers, Facilitators, Current Interventions and Their Effectiveness

Clinical and Experimental Dental Research, Volume 12, Issue 2, April 2026.
ABSTRACT Objectives Oral health promotion interventions promoted by non‐dental health professionals can optimize clinical outcomes and overall well‐being among people with spinal cord injury (PWSCI). Many barriers and facilitators affect non‐dental health professionals' ability to promote oral health interventions among PWSCI.
Md. Nazmul Huda, Ajesh George, Masoud Golakani, Thomas G. Elphick, Sachin Shetty, Akriti Biswas, Shilpi Ajwani   +6 more
wiley   +1 more source

Hereditary spastic paraplegias

Ceylon Medical Journal, 2009
Molecular genetics may hold the key to precise diagnosis, including prenatal diagnosis and management doi: 10.4038/cmj.v51i1.1366 Ceylon Medical Journal Vol.51(1) 2006 1 ...
openaire   +3 more sources

Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman‐Diamond syndrome‐associated mutation

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Shwachman‐Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency and neutropenia. While most cases are linked to mutations in the SBDS gene, some involve mutations in the GTPase EFL1. This protein works with SBDS to release the anti‐association factor eIF6 from the 60S ribosomal subunit during ribosome ...
Jonathan A. Zúñiga‐Domínguez, Rohit Jain, Martín González‐Andrade, Erik R. Farquhar, Mark R. Chance, Abril Gijsbers, Nuria Sánchez‐Puig   +6 more
wiley   +1 more source

Atypical Presentation of Pediatric Spinal Tuberculosis as Chronic Abdominal Pain: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Spinal tuberculosis, also known as Pott's disease, in children is a rare manifestation of extrapulmonary tuberculosis. The nonspecific clinical features, such as chronic abdominal pain, of extrapulmonary TB or spinal TB in children tend to delay diagnosis.
Bilal Aslam, Faiza Farooq, Shafiq Ur Rahman, Fazeela Bibi, Umama Alam, Okasha Tahir, Adil Nawaz, Jibran Ikram   +7 more
wiley   +1 more source