Results 151 to 160 of about 52,839 (293)

Skeletal involvement in Joubert syndrome: From low bone mineral density to severe secondary osteoporosis. [PDF]

Intractable Rare Dis Res
Babina T, Górczewska BA, Jakubowska-Pietkiewicz E.   +2 more
europepmc   +1 more source

Mechanism study of an articular cartilage repair material and its forward‐looking test for space medicine

BMEMat, EarlyView.
The regeneration process following dLhCG engraftment progressed through four distinct and interconnected stages. dLhCG maintained its regenerative efficacy after 6 months of cosmic exposure, supporting its potential application in space medicine.
Xu Hu, Hang Yao, Zhen Zhang, Zhonglian Wu, Huiqun Zhou, Bangheng Liu, Liang Ma, Yulei Mu, Dong‐An Wang   +8 more
wiley   +1 more source

Identification of Novel Co-Occurring <i>ZNF711</i> and <i>SRCAP</i> Variants in a Child with Neurodevelopmental Disorders Through Exome Sequencing. [PDF]

Appl Clin Genet
Liu T, Huang M, Dai M, Liang Y, Zhang C, Tan J, Qiao F, Wang Y.   +7 more
europepmc   +1 more source

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Identification of a Novel <i>SLC18A2</i> Splicing Variant in a Case of Infantile Parkinsonism-Dystonia Type 2. [PDF]

Case Rep Neurol Med
Nikkhah A, Badv RS, Habibi SAH, Zorzi G, Mehdizadeh M.   +4 more
europepmc   +1 more source

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Normal neuroimaging in an infant with SUCLA2-related mitochondrial DNA depletion syndrome type 5: a case report of likely pathogenic variant. [PDF]

Oxf Med Case Reports
Alsadi MO, Heikal Y, Al-Hasani F, Al Khasawneh D, Nasab A, Hrizat H, Almoustafa F, Hussain B.   +7 more
europepmc   +1 more source

Analysis of the usefulness and benefits of ultrafiltration in cardiorenal syndrome: A systematic review

ESC Heart Failure, Volume 12, Issue 2, Page 1194-1202, April 2025.
Abstract Aims Cardiac decompensation in cardiorenal syndrome (CRS) results in systemic congestion usually treated with diuretics. When despite high doses of diuretics, response is poor, ultrafiltration (UF) appears to be a useful and safe technique.
Borja Guerrero Cervera, Raquel López‐Vilella, Víctor Donoso Trenado, María Peris‐Fernández, Paula Carmona, Amparo Soldevila, Sergi Tormo, Ramón Devesa, María Jesús Montero Hernández, Luis Martínez Dolz, Julio Hernández Jaras, Pilar Sánchez‐Pérez, Luis Almenar‐Bonet   +12 more
wiley   +1 more source

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome. [PDF]

Eur J Neurol
Muhmann D, Haliloğlu G, Grimalt MA, Osredkar D, Castro AV, Corredera SC, Abicht A, Yıldız AE, Böhm J, Schara-Schmidt U, Gergeli AT, Estevez-Arias B, Vicente EC, Nascimento A, Marina AD, Benito DN, Roos A.   +16 more
europepmc   +1 more source