New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.

Noonan syndrome and related disorders are a group of well-known genetic conditions caused by dysregulation of the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. Because of the overlap of clinical and molecular features, they are now called RASopathies. In this study, we retrospectively analyzed the clinical data of 121 patients with a molecularly confirmed diagnosis of RASopathy, describing frequencies for clinical features in all organ systems as well as molecular data.

Total Ankle Arthroplasty as a Correction Tool for Foot Deformities: Analyzing the Impact on Medial Column Alignment Adaptation Through Weightbearing Computed Tomography.

Background: While weightbearing computed tomography (WBCT) has been instrumental in analyzing total ankle arthroplasty (TAA) positioning, there is a notable gap in the literature regarding adaptive changes in the foot's medial column after TAA. This study aims to bridge this gap by comparing preoperative and postoperative alignments of the foot's medial column and analyzing if a correlation exists between TAA coronal alignment correction and medial column alignment adaptation.

Methods: Sixty patients who underwent a lateral approach TAA for end-stage osteoarthritis (OA) between January 2021 and April 2023 were included in this retrospective study.

Engineered autologous nasal cartilage for repair of nasal septal perforations: a case series.

Objective: This phase I clinical trial assessed the use of autologous nasal chondrocyte tissue-engineered cartilage (N-TEC) for functional repair of nasal septal perforations (NSP).

Background: The most widely used technique to treat NSP, namely interposition grafting with a polydioxanone (PDS) plate combined with a deep temporal fascia (DTF) graft, is still suboptimal towards patient satisfaction and revision rates.

Methods: Patients ( n =5, all female, age range: 23-54 years) had a 0.

Terminal Cyclopropylsilyl Alcohols as Useful Key Units to Access 2,3,4,6-Tetrasubstituted Tetrahydropyran Scaffolds by Stereocontrolled Prins Cyclization.

In this study, the use of terminal cyclopropylsilyl alcohols in Prins cyclization is reported as a very efficient methodology for the preparation of polysubstituted tetrahydropyrans, in which three new stereogenic centers have been created in a single pot. The reaction is general for a wide variety of aldehydes (alkylic, vinylic, aromatic, or dialdehydes), different types of alcohols, and halogenation agents providing high yields and excellent diastereoselectivity 2,3,4,6-tetrasubstituted tetrahydropyranyl frameworks. Interestingly, diastereomeric alcohols provide the same tetrahydropyranyl derivatives, showing that the reaction mechanism proceeds through common intermediates.