Results 171 to 180 of about 228,725 (267)

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones   +6 more
wiley   +1 more source

Resuscitated Cardiac Arrest: Dynamic Mitral Regurgitation Treated With Transapical Valve Replacement. [PDF]

open access: yesJACC Case Rep
Nemola G   +8 more
europepmc   +1 more source

Visualizing Turner Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm   +2 more
wiley   +1 more source

Mitral autograft for partial tricuspid valve replacement: a case report. [PDF]

open access: yesJ Surg Case Rep
El Mourabit Y   +4 more
europepmc   +1 more source

Progress in Biomimetic Microdevices for Anticancer Drug Screening and their Potential for Enhancing In Vivo Efficacy

open access: yesAdvanced NanoBiomed Research, EarlyView.
Biomimetic microdevices are redefining anticancer drug screening by mimicking complex tumor microenvironments. This review highlights advances in microfluidic systems, cell microarrays, and in vivo‐like models, offering new insights into drug efficacy prediction and personalized medicine. The development of effective anticancer drugs remains a critical
Ching‐Te Kuo   +2 more
wiley   +1 more source

Isolated Aortic Valve Replacement: The Impact of Patient-Prosthesis Mismatch on Early Mortality. [PDF]

open access: yesCureus
Dumani S   +11 more
europepmc   +1 more source

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