Results 111 to 120 of about 657,288 (235)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Can the Open Stance Forehand Increase the Risk of Hip Injuries in Tennis Players? [PDF]

Orthop J Sports Med, 2020
Martin C, Sorel A, Touzard P, Bideau B, Gaborit R, DeGroot H, Kulpa R.   +6 more
europepmc   +1 more source

The Exeter Hip. 40 Years of Innovation in Total Hip Arthroplasty

, 2010
* Propoerties and use of acrylic cement\ud * Design and biomechaniscs of a cemented hip replacement\ud * The science of loosening, lysis and wear\ud * Preparation of patients for surgery\ud * Potential complications and their avoidance\ud * Modern ...
Howell, Jonathan R., Whitehouse, Sarah L., Lee, A.J. Clive, Gie, Graham A., Timperley, A. John, Ling, Robin S.M., Hubble, Matthew J.W.   +6 more
core  

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

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

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

In Vivo Nb4C3Tx MXene‐Assisted Photothermal Therapy of Melanoma in Mice

Advanced NanoBiomed Research, EarlyView.
Nb4C3Tx MXene converts pulsed 1064 nm irradiation into localized heat, producing concentration‐ and time‐dependent melanoma cell killing in vitro and suppressing tumor growth in mice. Histology reveals extensive tumor damage, macrophage‐associated material clearance, and no detectable persistent deposits in examined visceral organs, supporting Nb4C3Tx ...
Anton Roshchupkin, Benjamin Chacon, Gulnaz Gahramanova, Inna Chorna, Zhanna Klishchova, Anastasia Konieva, Ilya Yanko, Andrii Liutyi, Milena Yalyzhko, Ivan Baginskiy, Veronika Zahorodna, Júlio Sílvio de Sousa Bueno Filho, Erfan Rezvani Ghomi, Igor Panko, Tetiana Shapochka, Oksana Sulaieva, Oleksandr Solodovnyk, Lucia Gemma Delogu, Oleksiy Gogotsi, Laura Fusco, Sergiy Kyrylenko, Yury Gogotsi, Maksym Pogorielov   +22 more
wiley   +1 more source

Silk Fibroin for Cardiovascular Medical Devices: Review of Material Properties, Applications, and Clinical Potential

Advanced NanoBiomed Research, EarlyView.
Silk fibroin is an attractive natural biomaterial that can be engineered into diverse cardiovascular constructs, including vascular grafts, cardiac patches, heart valves, and stent coatings. Its tunable biological and mechanical properties have driven substantial preclinical progress; however, widespread clinical translation in cardiovascular ...
Mahsa Haghighattalab, Matt Govendir, Kristina Andelovic, Zachary Och, Fatemeh Karimi, Munira Xaymardan, Tomasz Jungst, Jelena Rnjak‐Kovacina, Nona Farbehi   +8 more
wiley   +1 more source

Staged treatment of osteonecrosis of the femoral head induced by delayed treatment of polytrauma complicated by chronic acetabular fracture and hip dislocation: a case report

Frontiers in Surgery
Delayed intervention for hip fracture and dislocation is a core risk factor for osteonecrosis of the femoral head (ONFH). According to the latest research, the incidence of ONFH in patients with acetabular fracture combined with hip dislocation can reach
Deguo Luo, Shi Shen, Zhengrui Zhou, Benbiao Wang, Jianhua Ge, Naiqiang Zhuo   +5 more
doaj   +1 more source

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source