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.

Monitoring the Outcome of Phonosurgery and Vocal Exercises with Established and New Diagnostic Tools.

Instrument-assisted measuring procedures expand the options within phoniatric diagnostics by quantifying the condition of the voice. The aim of this study was to examine objective treatment-associated changes of the recently developed vocal extent measure (VEM) and the established dysphonia severity index (DSI) in relation to subjective tools, i.e.

The Value of Vocal Extent Measure (VEM) Assessing Phonomicrosurgical Outcomes in Vocal Fold Polyps.

Objective: This study aimed to present vocal extent measure (VEM), demonstrate its changes with phonomicrosurgical treatment in patients with vocal fold polyps (VFPs), and to compare its performance to that of established vocal parameters.

Study Design: This is an individual cohort study.

Methods: Microlaryngoscopic ablation was executed in 61 patients with manifestation of VFP (28 male, 33 female; 45 ± 13 years [mean ± SD]).

[Myasthenia gravis].

Myasthenia gravis is an autoimmune disease, which leads to load-dependent weakness of voluntary skeletal muscles with recovery of function after resting. The disease is caused by autoantibodies directed against the postsynaptic nicotinic acetylcholine receptors (AChR) leading to a reduction of neuromuscular transmission. Muscles and nerves are not affected.

Increased Frequency of T Follicular Helper Cells and Elevated Interleukin-27 Plasma Levels in Patients with Pemphigus.

Pemphigus is an autoimmune disease in which IgG auto-antibodies (auto-ab) against the desmosomal cadherins desmoglein (Dsg) 3 and Dsg1 cause loss of epidermal keratinocyte adhesion. Aim of this study was to investigate cytokines derived from antigen-presenting cells (APC) and their relation to CD4+ T cell subpopulations and to the auto-ab response in pemphigus. In this regard, patients with pemphigus were compared to patients with myasthenia gravis (MG), an unrelated auto-ab-mediated autoimmune disease, and healthy controls.

Paraneoplastic brainstem encephalitis in a patient with exceptionally long course of a metastasized neuroendocrine rectum neoplasm.

Background: Paraneoplastic neurological syndromes (PNS) have frequently been described in patients with lung or breast cancer. However, some reports also described a correlation to carcinoid tumors, probably triggered via the excessive release of hormones.

Case Presentation: We report the case of a 40-year-old woman that was diagnosed with a neuroendocrine neoplasm (NEN) of the rectum and multiple synchronous liver metastases ten years ago.

Intravenous immunoglobulin maintenance treatment in myasthenia gravis: a randomized, controlled trial sample size simulation.

Introduction: In cases of exacerbation or crisis, myasthenia gravis (MG) patients can be treated with intravenous immunoglobulin (IVIg), plasmapheresis, or immunoadsorption. However, IVIg efficacy data in maintenance treatment are sparse.

Methods: We prospectively observed 16 index patients with chronic and insufficiently controlled MG under standard immunosuppressant therapy and symptomatic treatment.

A comparison of white light laryngostroboscopy versus autofluorescence endoscopy in the evaluation of vocal fold pathology.

Objectives/hypothesis: To prove the diagnostic value of autofluorescence endoscopy (AFE) and white light laryngostroboscopy (WLS) versus the gold standard microlaryngoscopy with histopathological examination in differential diagnostics of laryngeal lesions for experienced phoniatricians and laryngologists, using the PENTAX SAFE-3000 system.

Study Design: Exploratory cohort study.

Methods: High-resolution rigid WLS was executed in 32 consecutive patients with initial manifestation of benign, precancerous, and malignant vocal fold lesions.

Serum tau protein level as a marker of axonal damage in acute ischemic stroke.

Biochemical markers of brain damage, e.g. ischemic stroke, should reflect the volume of irreversibly damaged brain parenchyma and the clinical outcome in a single patient in order to allow estimation of prognosis at an early stage.

Hashimoto's encephalitis as a differential diagnosis of Creutzfeldt-Jakob disease.

Objectives: During an epidemiological study of Creutzfeldt-Jakob disease in Germany, Hashimoto's encephalitis was encountered as a differential diagnosis, which has not yet been described in this context.

Methods: The symptoms and findings of seven patients who fulfilled the criteria for "possible" Creutzfeldt-Jakob disease are presented.

Results: A Hashimoto's thyroiditis with antibodies against thyroglobulin or thyroid peroxidase, or both and a hypoechoic thyroid ultrasonogram were found in all cases.

[MRI findings in Wernicke encephalopathy].

Wernicke's encephalopathy (WE) is a consequence of vitamin B1 (thiamine) deficiency and in the majority of cases due to alcoholism. We report here the case of a 26-year-old male alcoholic who had stayed helplessly at home for 4 days until hospital admission. Clinical diagnosis was difficult due to major disturbance of consciousness.