Further delineation of the SCAF4-associated neurodevelopmental disorder.

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.

Churg-Strauss Syndrome: A Case of Laryngeal Presentation.

Eosinophilic granulomatosis with polyangiitis (EGPA), among various organs and systems, can affect the upper respiratory tract. The otolaryngologist must be able to suspect the pathology with the appearance of the first signs and recognize its late complications. Laryngeal involvement is rare and difficult to diagnose.

Liquid Chromatography-Tandem Mass Spectrometry Method for Therapeutic Drug Monitoring of Dalbavancin in Plasma of Pediatric and Young Adult Patients.

Background: Dalbavancin, an antimicrobial lipoglycopeptide, is authorized in Europe for treating acute bacterial infections of the skin and skin structures in adults and pediatric patients aged 3 months and older. However, off-label dosing regimens have been proposed for various indications beyond acute bacterial infections of the skin and skin structures. This study presents a novel bioanalytical method using liquid chromatography-tandem mass spectrometry to quantify dalbavancin in low-volume plasma samples (50 μL).

Design, Calibration and Morphological Characterization of a Flexible Sensor with Adjustable Chemical Sensitivity and Possible Applications to Sports Medicine.

Active life monitoring via chemosensitive sensors could hold promise for enhancing athlete monitoring, training optimization, and performance in athletes. The present work investigates a resistive flex sensor (RFS) in the guise of a chemical sensor. Its carbon 'texture' has shown to be sensitive to CO, O, and RH changes; moreover, different bending conditions can modulate its sensitivity and selectivity for these gases and vapors.

Squamous cell carcinoma metastatic to the lymph nodes of the parapharyngeal space: case series and systematic review.

Objective: Parapharyngeal space (PPS) is a rare and unusual site of head and neck squamous cell carcinoma (SCC) metastases. Treatment strategy for PPS metastases is still not well defined. This research aims to investigate the clinical implications and oncological outcomes of SCC metastases in PPS.