Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.

Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being the third most common muscular dystrophy. The conventional diagnostic strategy addresses the known genetic parameters of FSHD: the required presence of a permissive haplotype, a size reduction of the D4Z4 repeat of chromosome 4q35 (defining FSHD1) or a pathogenic variant in an epigenetic suppressor gene (consistent with FSHD2). Incomplete penetrance and epistatic effects of the underlying genetic parameters as well as epigenetic parameters (D4Z4 methylation) pose challenges to diagnostic accuracy and hinder prediction of clinical severity.

[The Complexity of SARS-CoV-2 Infection in the Clinical Setting of Obstetrics - Discussion Based on a Case Study].

Since the beginning of the pandemic, SARS-CoV-2 infection has dominated clinical practice. In the treatment of high-risk populations, there has long been uncertainty about the extent and consequences of infection. This high-risk population includes pregnant patients.

Validation and Classification of the 9-Item Voice Handicap Index (VHI-9i).

The international nine-item Voice Handicap Index (VHI-9i) is a clinically established short-scale version of the original VHI, quantifying the patients' self-assessed vocal handicap. However, the current vocal impairment classification is based on percentiles. The main goals of this study were to establish test-retest reliability and a sound statistical basis for VHI-9i severity levels.

Alternative splicing of the TNFSF13B (BAFF) pre-mRNA and expression of the BAFFX1 isoform in human immune cells.

Human B cell activating factor (TNFSF13B, BAFF) is a tumor necrosis factor superfamily member. Binding its unique receptor (TNFRSF13C, BAFF-R) mediates gene expression and cell survival in B cells via activation of NFκB pathway. Furthermore, there is data indicating a role in T cell function.