Results 241 to 250 of about 123,532 (341)

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Clinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Annarita Giliberti, Sara Bargiacchi, Giorgia Mancano, Giovanna Traficante, Mafalda Mucciolo, Francesca Clementina Radio, Viviana Cordeddu, Cecilia Mancini, Irene Bottillo, Federica Anna Pirro, Maria Teresa Bonati, Cord‐Christian Becker, Diana Carli, Alessandro Mussa, Maria Isis Atallah Gonzalez, Inge Lore Ruiz‐Arana, Camille Kumps, Isabelle Maystadt, Stephanie Moortgat, Alp Peker, Maria Piccione, Paola Grammatico, Nino Rostomashvili, Jonathan Lévy, Marcello Scala, Valeria Capra, Annalaura Torella, Clare van Eyk, Bertrand Isidor, Benjamin Cogne, Siddharth Srivastava, Aisling Quinlan, Alessandro Vaisfeld, Laura Licchetta, Daniele Frattini, Claudio Graziano, Giulia Severi, Isabelle Bacchi, Luca Soliani, Elliott H. Sherr, Emanuela Argilli, Himanshu Goel, Chiara De Luca, Silvia Leonardi, Francesco Brancati, Flavio Faletra, Catia Mio, Silvia Braibanti, Giancarlo Gargano, Carlo Fusco, Antonio Novelli, Marco Tartaglia, Livia Garavelli   +57 more
wiley   +1 more source

The Epidemiology of Scoliosis

, 1977
M. Ichigaya, Yuki Fukuoka, N. Tsunoda, Y. Wakita, Kensuke Sasaki, Masakazu Kondoh, Keiichiro Shiba, Tomoaki Akiyama, S. Uemori, K. Koh   +9 more
openalex   +2 more sources

Hidden Asymmetries: Leg Length Discrepancy and Breast Asymmetry in Adolescent Scoliosis and Postural Disorders-A Cross-Sectional Study. [PDF]

J Clin Med
Manocchio N, Marini R, Ljoka C, Giordani L, Iovene I, Vita G, Foti C.   +6 more
europepmc   +1 more source

Homocysteine: Canary in the Coal Mine or Hidden Threat? A Biochemical Study on the Role of Plasma Thiols

The FASEB Journal, Volume 39, Issue 13, 15 July 2025.
The figure illustrates how high plasma glutathione levels can promote the dethiolation of homocysteinylated proteins, leading to the release of homocysteine. The freed homocysteine is then either excreted through the kidneys or further processed via cellular metabolism, supporting homocysteine clearance and metabolic balance.
Daniela Giustarini, Sante Colella, Isabella Dalle‐Donne, Ranieri Rossi   +3 more
wiley   +1 more source

Effect of a Digital Health Exercise Program on the Intention for Spinal Surgery in Adult Spinal Deformity: Exploratory Cross-Sectional Survey. [PDF]

JMIR Form Res
Brown MC, Lin CQ, Jin C, Rohde M, Rocos B, Belding J, Woods BI, Ackerman SJ.   +7 more
europepmc   +1 more source

Mechanical Load‐Induced Upregulation of Talin2 through Non‐Canonical Deubiquitination of OTUB1 Drives Facet Joint Osteoarthritis Pathogenesis

Advanced Science, Volume 12, Issue 25, July 3, 2025.
Facet joint osteoarthritis (FJOA), prevalent in the elderly, involves Talin2 upregulation promoting ECM degradation while suppressing synthesis. Mechanical load stabilizes Talin2 via OTUB1‐mediated non‐canonical deubiquitination, driving CCL2 expression that recruits immune cells, exacerbating inflammatory joint degeneration.
Yizhen Huang, Heng Sun, Haojie Chen, Xiangpeng Wang, Junduo Zhao, Yang Jiao, Hongyi Zhou, Haoyu Cai, Jiafeng Dai, Xuan Huang, Weiyun Chen, Jianxiong Shen   +11 more
wiley   +1 more source

Comparison of blood metal ion levels in scoliosis patients following instrumented spinal fusion with cobalt-chromium and titanium alloy rods. [PDF]

Sci Rep
Tamagawa S, Nojiri H, Sato T, Matsukawa T, Homma Y, Takano H, Ishijima M.   +6 more
europepmc   +1 more source

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa, Maura Guyler, Krystal L. Tomei, Howard D. Wang   +3 more
wiley   +1 more source

Hip Adduction Asymmetry in Girls with Adolescent Idiopathic Scoliosis. [PDF]

J Clin Med
Kurzeja P, Szurmik T, Bibrowicz K, Prusak J, Gąsienica-Walczak B, Ogrodzka-Ciechanowicz K.   +5 more
europepmc   +1 more source