Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.

Identifying Hip Arthroscopy Trends in Turkey.

Background: Hip arthroscopy (HA) procedures have continued to increase worldwide. However, no data are currently available regarding the increasing HA case volume and trends in Turkey.

Purpose: To identify trends in postoperative care habits and incidence of HA in Turkey using data from the national Health Coding Reference Server (SKRS) database.

A Novel Description of Medial Meniscus Vascularization: A Multicenter Study Introducing the "Medial Meniscal Artery".

Background: The microvasculature of the human meniscus has been previously described by Arnoczky and Warren. However, to date, the qualitative and quantitative extra-articular vascular anatomy of the medial meniscus has not been characterized.

Purposes: To perform a qualitative and quantitative anatomic study of the extra-articular medial meniscal vasculature and to introduce the novel "medial meniscal artery" (MMA), potentially providing future guidelines for the treatment of meniscal abnormalities.

Assessment of Genetic Variants Linked to Susceptibility to Mechanical Prosthetic Valve Thrombosis.

Prosthetic valve thrombosis (PVT) is a critical and life-threatening condition driven by multifactorial etiologies, including genetic predispositions. The study was designed as a single-center retrospective manner. Echocardiographic features and genetic test including factor II/prothrombin (G20210A), factor V Leiden (G1691A), factor V R2 (A4070G), apolipoprotein (Apo) B-100 (G10708A), ApoE (C112R), ApoE (R158C), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, factor XIII G103T (V34L), β-fibrinogen (455G>A), PAI-1 4G/5G, and HPA-1 GPIIIa (T196C) genotyping variations were assessed.

Cartilage Tissue Engineering in Multilayer Tissue Regeneration.

The functional and structural integrity of the tissue/organ can be compromised in multilayer reconstructive applications involving cartilage tissue. Therefore, multilayer structures are needed for cartilage applications. In this review, we have examined multilayer scaffolds for use in the treatment of damage to organs such as the trachea, joint, nose, and ear, including the multilayer cartilage structure, but we have generally seen that they have potential applications in trachea and joint regeneration.