[Validity of the German Menière's Disease Patient-Oriented Symptom Severity Index]. / Validierung des deutschsprachigen Menière's Disease Patient-Oriented Symptom Severity Index.

BACKGROUND: The MD POSI is a disease-specific questionnaire to determine the health-related quality of life (HRQoL) of patients with Menière's disease (MD). OBJECTIVES: Validity and reliability of the German translation of the MD POSI. MATERIAL AND METHODS: Prospective data analysis of a patient group with vertigo (n = 162), which was treated in the otorhinolaryngology of a University Hospital from 2005-2019. A clinical selection was made according to the new Bárány classification in a "definite" and "probable" Menière's disease. HRQoL was assessed using the German translation of the MD POSI, the Vertigo Symptom Score (VSS) and the Short Form (SF-36). Reliability was measured by Cronbach's α and test-retesting after 12 months and again 2 weeks later. Content and agreement validity were examined. RESULTS: Cronbach α values greater than 0.9 indicated good internal consistency. There was no statistically significant difference from baseline to 12 months, except for the subscore "during the attack". There were significant positive correlations between the VSS overall/VER/AA and the overall index of the MD POSI and negative significant correlations with the SF-36 domains physical functioning, physical role functioning, social functioning, emotional role functioning, mental well-being. There were low SRM (standardized response mean) values below 0.5. CONCLUSIONS: The German translation of the MD POSI is a valid and reliable instrument to evaluate the impact of MD on patients' disease-specific quality of life.

Comparing the Influence of Surgical and Conservative Therapy on Quality of Life in Patients with Early-Stage Medication-Related Osteonecrosis of the Jaw-A Prospective Longitudinal Study.

Background and Objectives: The purpose of this study was to evaluate the impact of surgical and conservative, non-surgical treatment on general health-related (QoL) and oral health-related quality of life (OHRQoL) in patients suffering from AAOMS stage I MRONJ. Materials and Methods: In the course of this prospective clinical study, QoL and OHRQoL using QLQ-C30 and QHIP G14 questionnaire were longitudinally assessed in N = 174 prospectively enrolled patients with indication of treatment of MRONJ stage I over a period of 12 months. Patients received conservative or surgical treatment. The measurement time points were preoperatively (T0), 12 weeks (T1), 6 months (T2) and 1 year after operation (T3). Results: For OHRQoL, no significant (p > 0.05) differences were found between both treatment groups for all timepoints (T0-T3). In the surgical treatment group, OHIP scores of T1, T2 and T3 were significantly lower than baseline measures (T0) (T0-T1 (2.99, p = 0.024), T0-T2 (5.20, p < 0.001), T0-T3 (7.44, p < 0.001)). For conservative treatment group OHIP, scores of T2 and T3 were significantly lower than baseline measures (T0) (T0-T2 (9.09, p = 0.013), T0-T3 (12.79, p < 0.001)). There was no statistically significant effect of time on QLQ-C30 scores in both groups (surgical treatment: F(3, 174) = 1.542, p < 0.205, partial η2 = 0.026; conservative treatment: F(3, 30) = 0.528, p = 0.667, partial η2 = 0.050). QLQ-C30 scores turned out to be significantly lower in the non-surgical group at T1 (p = 0.036) and T3 (p = 0.047) compared to the surgical treatment group. Conclusions: Surgical and conservative treatment of MRONJ stage I significantly improves patients' OHRQoL. Surgical treatment is superior to conservative treatment of MRONJ stage I regarding general QoL. Therefore, surgical treatment of MRONJ stage I should not be omitted for QoL reasons.

Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype.

Epilepsy and mental retardation are known to be associated with pathogenic mutations in a broad range of genes that are expressed in the brain and have a role in neurodevelopment. Here, we report on a family with three affected individuals whose clinical symptoms closely resemble a neurodevelopmental disorder. Whole-exome sequencing identified a homozygous stop-gain mutation, p.Gln19*, in the BATF2 gene in the patients. The BATF2 transcription factor is predominantly expressed in macrophages and monocytes and has been reported to modulate AP-1 transcription factor-mediated pro-inflammatory responses. Transcriptome analysis showed altered base-level expression of interferon-stimulated genes in the patients' blood, typical for type I interferonopathies. Peripheral blood mononuclear cells from all three patients demonstrated elevated responses to innate immune stimuli, which could be reproduced in CRISPR-Cas9-generated BATF2-/- human monocytic cell lines. BATF2 is, therefore, a novel disease-associated gene candidate for severe epilepsy and mental retardation related to dysregulation of immune responses, which underscores the relevance of neuroinflammation for epilepsy.