Results 151 to 160 of about 281,667 (252)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Advances in genetics, signaling, and modeling of venous malformations. [PDF]

Front Cardiovasc Med
Sagar K, Boscolo E.
europepmc   +1 more source

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

Identification of pathological CD133+ endothelial cells in venous malformations. [PDF]

Front Cardiovasc Med
Shawber CJ, Clapp A, Shapiro-Franklin N, Yang S, Harvill MG, Iaconetti E, Schonning MJ, Zeiler AI, Perez M, Koh S, Alkelai A, Wu JK.   +11 more
europepmc   +1 more source

Zebrafish xenograft models as a fast platform for metastasis diagnosis and cisplatin response of head and neck squamous cell carcinoma

Animal Models and Experimental Medicine, EarlyView.
A zebrafish xenograft model accurately distinguishes metastatic from non‐metastatic HNSCC and recapitulates cisplatin sensitivity/resistance patterns. Using patient‐derived tumors, it predicts individual therapeutic responses, offering a rapid, clinically applicable platform for guiding personalized treatment. Abstract Background Head and neck squamous
Lu Chen, Shu Sun, Yujia Liu, Liehao Jiang, Cuiyun Wu, Ting Liu, Yujiao Zhao, Yuwei Liu, Lu Liu, Qi Wang, Xiaowei Zheng, Ping Huang   +11 more
wiley   +1 more source

Considerations in the Management of Cerebral Arterio-Venous Malformations

Advances in Clinical Neuroscience & Rehabilitation, 2009
Whitfield, Peter, Trivedi, Rikin, Kirollos, Ramez   +2 more
doaj   +1 more source

Association between perioperative D-dimer dynamics and post-treatment localized intravascular coagulation in venous malformations. [PDF]

Ann Med
Zhang R, Luo H, Jiang L, Jiang C, Cai T, He J, Chen K, Chen D, Zhan T.   +8 more
europepmc   +1 more source

Construction and evaluation of a chronic arthritis animal model induced by persistent activation of toll‐like receptors via lipopolysaccharide stimulation

Animal Models and Experimental Medicine, EarlyView.
We constructed a novel systemic juvenile idiopathic arthritis mouse model (LC) by introducing sustained TLR4 activation into the collagen‐induced arthritis model. The LC model effectively recapitulates human sJIA‐like systemic inflammation while revealing a critical dissociation between systemic immune activation and joint damage.
Fengming Li, Qiang Luo, Xinglin Wu, Yuxiao Chen, Xuemei Tang   +4 more
wiley   +1 more source

Polymeric rapamycin nanoparticles encapsulating ponatinib cause regression of venous malformations in mice. [PDF]

Sci Transl Med
Tang W, Li Y, Boscolo E, Kohane DS, Cullion K.   +4 more
europepmc   +1 more source

A Comprehensive In Vitro Approach for Assessing the Physiological Degradation of Medical Implants: The Silkothane Arteriovenous Graft Case Study

Advanced NanoBiomed Research, EarlyView.
Evaluating the degradation of absorbable medical devices in vitro demands physiologically relevant conditions. This study presents a comprehensive framework applied to a three‐layered silk fibroin/polyurethane arteriovenous graft, employing human enzymes at physiological concentrations over 6 months. Multiparametric analyses of both graft structure and
Cristina Oldani, Alice Caldiroli, Federica Barzaghi, Nina Bono, Gabriele Candiani, Stefania Adele Riboldi   +5 more
wiley   +1 more source