Etiology and Differential Diagnoses of Nuchal Tumors: A Study of 61 Cases.

Background/aim: Compared to other cervical localizations, masses of the nuchal region are rare in the clinical practice of otolaryngologists. This study presents the relevant etiologies of nuchal tumors.

Patients And Methods: This study included 61 cases (5.

[Obtaining a Second Opinion in Germany: an Analysis of the Billing Data of the Health Insurer AOK Nordost].

Objectives: The aim of this billing data analysis was to examine the implementation of the second opinion directive in Germany and to investigate how often informing patients about their right to a second opinion (SO) and obtaining a SO are documented.

Methods: To examine the frequency of "informing about SO" and "obtaining an SO", insured patients who received an indication for tonsillectomy, tonsillotomy or hysterectomy in 2019 or 2020 were included, as well as insured patients who received an indication for shoulder arthroscopy in Q2-Q3 2020. Data were analyzed descriptively.

Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.

Objectives: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants.

Methods: We described 13 individuals with CLCN4-related neurodevelopmental disorder.

Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.

CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 encodes the vesicular 2Cl/H exchanger ClC-4, and CLCN4 pathogenic variants frequently result in altered ClC-4 transport activity. The precise cellular and molecular function of ClC-4 remains unknown; however, together with ClC-3, ClC-4 is thought to have a role in the ion homeostasis of endosomes and intracellular trafficking.