AIMS:Integrating a diabetes management system (DMS) and personal coaching in patient care may reduce the burden of type 2 diabetes (T2DM) on patients and help address the multifaceted challenges associated with diabetes management. This study aims to assess the impact of the DMS with online coaching in patients with T2DM on changes in HbA1c levels, quality of life, and usability over 26 weeks. MATERIALS AND METHODS:In a multicentre, randomised, controlled trial, adults with T2DM were randomised 1:1 to either 52 weeks of DMS with remote coaching or to usual care by their diabetologist. The DMS enabled a digital diary of blood pressure, blood glucose, and other health parameters, while coaching sessions included structured assessments of individual patient needs. The primary endpoint was changes in the HbA1c level from baseline to 26 weeks. Secondary endpoints included health-related quality of life (SF-12), diabetes-related problems (PAID), and DMS usability (System Usability Scale) at 26-week follow-up. RESULTS:One hundred and fourteen participants (49 females, 58 ± 11 years old [mean ± standard deviation], HbA1c: 8.3% ± 0.7%, body mass index [BMI]: 35.3 ± 7.9 kg/m2, diabetes duration: 13.6 ± 7.7 years) were randomised and completed baseline. Ninety participants (39 female, age: 58 ± 11 years old, HbA1c: 8.3% ± 0.7%, BMI: 35.2 ± 7.6 kg/m2, diabetes duration: 14 ± 8 years) completed 26-week follow-up. The HbA1c levels improved significantly in the intervention group in comparison to the control group (-0.9% ± 1.0% vs. -0.5% ± 1.0%, p = 0.044). No significant differences were observed in SF-12 and PAID scores at 26-week follow-up. Thirty-two of forty-three participants who used DMS completed the SUS questionnaire with an average score of 55.4 ± 27.9. CONCLUSIONS:DMS with coaching improved glycaemic control compared to usual care in patients with T2DM at 26-week follow-up.
Most patients with a rare movement disorder (MD) do not receive a molecular diagnosis, and the underlying genetic variants and mediating genes remain elusive. Here, we evaluate the diagnostic accuracy of conventional and next-generation sequencing-based genetic testing strategies in a cohort of 2,811 individuals with ataxia, spastic paraplegia and dystonia. Exome sequencing establishes genetic diagnoses in 19.3% of cases, and specificity of phenotypic features and age at testing are positive predictors. Genome analysis 'beyond the exome' increases the diagnostic yield by 7.5%, mostly due to the improved detection of structural variants and repeat expansions. Unsolved cases are included in the Solve-RD cohort and subjected to gene-burden analysis, providing evidence for loss-of-function variants in X-chromosomal CD99L2 causing spastic ataxia. Cellular studies show that the transmembrane protein CD99L2 occurs mainly in a ubiquitinated form and serves as an activating interactor of the calcium-dependent protease CAPN1. Ablation of cytoplasmic or extracellular domains of CD99L2 leads to its intracellular mislocalization and abrogation of its interplay with CAPN1. Transcriptome analysis in CD99L2 patient-derived fibroblasts reveals synaptic function-specific disturbances. Impaired CAPN1 activation and dysregulation of downstream neuronal pathways constitute the likely molecular cause for neurodegeneration.
Ziel Offizielle Leitlinie der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe (DGGG), der Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (ÖGGG) und der Schweizerischen Gesellschaft für Gynäkologie und Geburtshilfe (SGGG). Die Schulterdystokie ist eine seltene, aber gefürchtete Komplikation bei der Geburt mit potenziell weitreichenden medizinischen Konsequenzen für Mutter und Kind. Ziel dieser Leitlinie ist es, die Prozesse zur individuellen Lösung der Schulterdystokie zu standardisieren, innerhalb derer das geburtshilfliche Handeln dem derzeitigen Stand der Wissenschaft und der aktuellen klinischen Praxis entspricht. Insbesondere soll unterstrichen werden, dass das Ereignis Schulterdystokie und die damit verbundenen Komplikationen – auch bei noch so guter medizinischer Betreuung – nicht vollständig vermeidbar bzw. beherrschbar sind. Methoden Diese S2k-Leitlinie wurde durch einen strukturierten Konsens von repräsentativen Mitgliedern verschiedener Professionen im Auftrag des Leitlinienprogramms der DGGG, OEGGG und SGGG entwickelt. Empfehlungen Die Leitlinie gibt Empfehlungen zu Definition und Diagnosestellung, Epidemiologie, Risikofaktoren und Prävention, Logistik, Maßnahmen bei Schulterdystokie inkl. eines Handlungsalgorithmus, Komplikationen, Dokumentation, Debriefing und forensischen Aspekten, Schulung, Training und Simulation sowie der Nachbesprechung der Schulterdystokie.
Breast pathology poses a particular diagnostic challenge due to the broad spectrum of functional, reactive and neoplastic changes in the breast. Objectifiable and reproducible criteria are the key to a valid diagnosis. In addition to the diagnostic classification of lesions, it is the task of pathologists to identify and document all tumor characteristics that are relevant for clinical management. Modern personalized medicine is based on up-to-date, valid pathomorphological and molecular diagnostics. Reports of findings should be written comprehensibly, completely and quickly. Structured pathology reports are ideal for this purpose. Before artificial intelligence can fulfil the hopes placed in it regarding the acceleration and objectification of reporting, technical and financial limitations must be resolved in addition to the explainability of AI-generated decisions.
