Results 151 to 160 of about 1,434,677 (298)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

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

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner   +7 more
wiley   +1 more source

Pulmonary hypertension in Switzerland: treatment and clinical course.

open access: yes, 2008
The prognosis of pulmonary hypertension (PH), especially idiopathic pulmonary arterial hypertension (IPAH), has improved during the recent years. The Swiss Registry for PH represents the collaboration of the various centres in Switzerland dealing with PH
Tamm, M.   +8 more
core  

Translational Macrophage Mechano‐Immunotherapy for Next‐Generation Implantable Biomaterials

open access: yesAdvanced NanoBiomed Research, EarlyView.
This review explores how macrophage mechanosensing drives inflammation, fibrosis and foreign body responses to implanted biomaterials. It examines emerging pharmacological strategies to modulate mechanotransduction, alongside biomaterial platforms for localised drug delivery, clinical translation, regulatory considerations and standardised testing ...
Xueying Xu, Ian L. Chin, Richard P. Tan
wiley   +1 more source

Rising Use of Reconstructive Cartilage Procedures of the Knee With Persistently Low Surgical Complication Rates Based on the American College of Surgeons National Surgical Quality Improvement Program

open access: yesArthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To determine current treatments used for chondral defects of the knee, to analyze complications, and to identify risk factors for adverse events. Methods In this retrospective database study, the American College of Surgeons National Surgery Quality Improvement Program database (2010‐2023) was searched using Current Procedural Terminology codes
Braeden R. Gooch   +8 more
wiley   +1 more source

Molecular and pathophysiological intersections between arterial hypertension, pulmonary inflammation and diabetes mellitus. [PDF]

open access: yesFront Pharmacol
da Silva HJN   +8 more
europepmc   +1 more source

Pulmonary Hypertension Associated with Stenosis of the Right Pulmonary Artery Branch in a Dog

open access: yes
A 10-year-old male miniature dachshund dog was referred to our hospi tal for cough and dyspnea. Two-dimensional echocardiography revealed pulmonary hypertension with an echo-free circle structure adjacent to the dorsal side of the left atrium.
Takuya MATSUKAWA   +3 more
core   +1 more source

Diabetes Mellitus Is Associated With Increased Risk for Subsequent Hip Arthroscopy After Index Hip Arthroscopy

open access: yesArthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To determine whether diabetes mellitus is associated with higher systemic and hip‐specific complications and to evaluate reoperation rates after hip arthroscopy. Methods Using the TriNetX Research Network and Current Procedural Terminology and International Classification of Diseases codes, we identified diabetic and nondiabetic patients aged ...
Nicholas J. Morriss   +3 more
wiley   +1 more source

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