Results 241 to 250 of about 1,782,642 (314)

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Perioperative antithrombotic management in degenerative spine surgery: a multicenter cohort of 767 consecutive patients. [PDF]

Front Med (Lausanne)
Corazzelli G, Corvino S, Rios DL, Gentile D, Di Domenico C, Corazzelli F, De Rosa G, Fiore F, Germano C, Filippelli M, Colella N, Ricciardi F, D'Elia A, Leonetti S, Sacco M, Meglio V, Pizzuti V, Di Russo P, Gorgoglione N, Petrella G, Mastantuoni C, Scala MR, de Angelis M, De Bellis A, Cioffi V, Aloj F, Sigona L, Bocchetti A, Di Colandrea S, Coscia G, Passavanti MB, Cuomo A, De Marinis P, Tocchetti CG, de Divitiis O, Mormile M, Cirillo P, Catapano G, de Falco R, Paolini S, Esposito V, Innocenzi G.   +41 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Personalized Approaches to Spine Surgery: Innovations and Future Directions. [PDF]

J Pers Med
Lewandrowski KU.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Intraoperative Navigation in Cervical Spine Surgery. [PDF]

J Clin Med
Heydar AM, Tanaka M, Baykan SE, Yalçın MB, Özdemir U, Akar A, Şirazi S, Kürklü M.   +7 more
europepmc   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Anaesthetic vigilance during endoscopic spine surgery: Impending signs of intraoperative hydroperitoneum and pleural effusion. [PDF]

Indian J Anaesth
Palaksha DG, George I, Ramesh VJ, Srinivas D.   +3 more
europepmc   +1 more source

A mouse model of mechanical stress injury to the basal ganglia using thermosensitive PNIPAM hydrogel for intracerebral hemorrhage research

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a novel mouse model of intracerebral hemorrhage (ICH) by stereotactically injecting thermosensitive PNIPAM hydrogel into the internal capsule to impose localized mechanical stress on the corticospinal tract, which provides a straightforward and reproducible tool for preclinical studies on focal mechanical stress–induced ...
Mingxi Li, Yujie Chen, Rongsu Huang, Min Xia, Chao Mi, Yuan Tian, Peiwen Guo, Taotao Jin, Shilei Hao, Hua Feng, Yujie Chen, Zhi Chen   +11 more
wiley   +1 more source