Results 111 to 120 of about 30,536 (214)

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

open access: yesAmerican 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   +10 more
wiley   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

open access: yesAmerican 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   +2 more
wiley   +1 more source

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

open access: yesAnimal 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   +11 more
wiley   +1 more source

Verrucous Venous Malformation Presenting on the Face: A Case Series of Two Patients. [PDF]

open access: yesActa Derm Venereol
Chang SJ, Huang L, Wang L, Lin X, Qiu Y.
europepmc   +1 more source

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

open access: yesAnimal 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   +4 more
wiley   +1 more source

Extensive Pelvic Venous Malformation in a Child With Recurrent Hematochezia. [PDF]

open access: yesClin Case Rep
Denzinger M   +3 more
europepmc   +1 more source

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

open access: yesAdvanced 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   +5 more
wiley   +1 more source

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