Notes

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It is the aim of the Medical Informatics Funding Scheme and other national and local projects for digital networking in healthcare to facilitate the exchange and use of patient data between institutions in compliance with data protection regulations. This requires the integration of data from various sources-such as digital workplace systems, laboratory systems, picture archiving and communication (PAC) systems or tumor boards-into a data warehouse or research databases. Digital networking of service providers and research institutions will open access to high-performance and precision medicine (e.g., virtual molecular tumor boards) for even more patients, thereby providing data for basic and care research. Network medicine will establish the translational link between basic research (e.g., genome research) and patient care. Digitally integrated "real world" patient data will also facilitate a detailed analysis of health care and the quality of treatments.Medicine is becoming increasingly precise. This is particularly evident in the field of pharmaceuticals and especially in oncology. Driven by the steadily growing understanding of biomedical interrelationships and the resulting increase in precision, we are currently experiencing a paradigm shift from a one-drug-fits-all model towards an individualized biomarker-driven approach. This essentially enables the transition from efficacy to effectiveness. In order to ensure that the promise of high-quality, affordable precision medicine for all remains valid in the future, the step from efficacy in clinical studies to effectiveness in the practice of care is crucial in the next decade. This will be achieved with end-to-end precision from diagnostics to real-world evidence.Management of urolithiasis has undergone fundamental changes with the introduction of extracorporeal shock wave lithotripsy (ESWL) and percutaneous and ureterorenoscopic techniques in the 1980s. Since then, these minimally invasive techniques have been continuously optimized and specific laser techniques for stone disintegration have emerged. Besides the established holmium laser, other types of lasers are also emerging. Especially the thulium fiber laser is the subject of promising research due to its variable adjustment options. In terms of patient safety, both holmium and thulium techniques seem to be similar . While serious direct physical lesions are rare, there is increasing evidence of clinically relevant secondary thermal injury due to increased temperatures in the upper urinary tract during treatment. Our research group has recently demonstrated in both in vitro and in vivo (porcine animal model) experiments that monitoring the fluorescence spectra of calculi allows precise target differentiation between stone, tissue, and endoscope components. Consequently, pulse emissions were only emitted when stone material was detected. We believe that target monitoring will minimize the risk of laser-induced urothelial damage and decrease energy release into the upper urinary tract allowing adequate temperature management.Chromoanagenesis is a genomic event responsible for the formation of complex structural chromosomal rearrangements (CCRs). Germline chromoanagenesis is rare and the majority of reported cases are associated with an affected phenotype. Here, we report a healthy female carrying two de novo CCRs involving chromosomes 4, 19, 21 and X and chromosomes 7 and 11, respectively, with a total of 137 breakpoint junctions (BPJs). We characterized the CCRs using a hybrid-sequencing approach, combining short-read sequencing, nanopore sequencing, and optical mapping. The results were validated using multiple cytogenetic methods, including fluorescence in situ hybridization, spectral karyotyping, and Sanger sequencing. We identified 137 BPJs, which to our knowledge is the highest number of reported breakpoint junctions in germline chromoanagenesis. We also performed a statistical assessment of the positioning of the breakpoints, revealing a significant enrichment of BPJ-affecting genes (96 intragenic BPJs, 26 genes, p  less then  0.0001), indicating that the CCRs formed during active transcription of these genes. In addition, we find that the DNA fragments are unevenly and non-randomly distributed across the derivative chromosomes indicating a multistep process of scattering and re-joining of DNA fragments. In summary, we report a new maximum number of BPJs (137) in germline chromoanagenesis. We also show that a hybrid sequencing approach is necessary for the correct characterization of complex CCRs. Through in-depth statistical assessment, it was found that the CCRs most likely was formed through an event resembling chromoplexy-a catastrophic event caused by erroneous transcription factor binding.
The aim of this study was to introduce a novel technique for gasless, laparoendoscopic, single-site (GLESS) myomectomy and to evaluate its feasibility and safety.

A retrospective observational study was performed at a hospital from Sep 2017 to Nov 2018. 15 patients with symptomatic subserosal or intramural myomas underwent GLESS myomectomy.

The mean age and body mass index were 41.73 ± 8.58years and 22.72 ± 2.27kg/m
, respectively. 5 patients had a history of abdominal surgery, including four caesarean deliveries and one myomectomy. The mean operative duration, blood loss volume, time to specimen removal, time of bowel activity and postoperative hospitalization duration were 156.47 ± 62.19min, 57.33 ± 72.35ml, 29.87 ± 13.6min, 27.67 ± 10.06h, and 3.4 ± 0.74days, respectively. The operation was successful in all patients, there were no surgical or wound complications in any patient, and the histopathological result was leiomyoma in all 15 patients.

The procedure is feasible and safe in selected patients with symptomatic myomas.
The procedure is feasible and safe in selected patients with symptomatic myomas.While Th1 and Th17 T effector cells are pathogenic drivers of glomerulonephritis (GN), regulatory T cells (Tregs) potently protect from renal tissue injury. Recently, it has become evident that different Treg subtypes exist. Among these are lineage specific Treg1 and Treg17 cells, which are specialized to down regulate either Th1 or Th17 T effector cell responses. Interestingly, programming of specialized Tregs and the corresponding T helper effector cells depend on the same lineage specific master transcription factors Tbet (Th1/Treg1) and STAT3 (Th17/Treg17). Furthermore, early control of T effector cell priming in secondary lymphoid organs by specialized Tregs was described. One central mechanism of T effector cell control by the corresponding Treg subtype seems to be expression of the same chemokine receptor repertoire, which facilitates their co-localization. More recently, another intriguing Treg subset was identified, which expresses Foxp3 together with the Th17 characteristic transcription factor RORγt. While these Foxp3+RORγt+ Tregs were shown to be highly immunosuppressive, studies in GN also identified pro-inflammatory potential via secretion of IL-17. Many questions regarding this unusual Treg subset remain, including their origin, stability, and mechanisms of action. Further characterization of the renal Treg landscape during GN will help to identify novel immunosuppressive mechanisms and develop successful Treg-directed therapies. In this review, we summarize the currently available data about specialized Treg subsets and discuss their role in GN.Since the introduction of cochlear implants into clinical routine, the interest in measuring cochlear parameters, particularly the cochlear duct length (CDL) has increased, since these can have an influence on the correct selection of the electrode. On the one hand, coverage of an optimal frequency band is relevant for a good audiological result, and on the other hand, cochlear trauma due to too deep insertion or displacement of the electrode must be avoided. Cochlear implants stimulate the spiral ganglion cells (SGC). The number of SGC and particularly their distribution can also have an influence on the function of a cochlear implant. In addition, the frequency assignment of each electrode contact can play a decisive role in the postoperative success, since the frequency distribution of the human cochlea with varying CDL shows substantial interindividual differences. The aim of this work is to provide an overview of the methods used to determine the cochlear parameters as well as of relevant studies on the CDL, the number and distribution of SGZ, and the frequency assignment of electrode contacts. Based on this, a concept for individualized cochlear implantation will be presented. In summary, this work should help to promote individualized medicine in the field of cochlear implants in the future, in order to overcome current limitations and optimize audiological outcomes.Healthy ageing involves degeneration of the neuromuscular system which impacts movement control and proprioception. Yet the relationship between these sensory and motor deficits in upper limb reaching has not been examined in detail. Recently, we reported that age-related proprioceptive deficits were unrelated to accuracy in rapid arm movements, but whether this applied in motor tasks more heavily dependent on proprioceptive feedback was not clear. To address this, we have tested groups of younger and older adults on a force-field adaptation task under either full or limited visual feedback conditions and examined how performance was related to dynamic proprioceptive acuity. Adaptive performance was similar between the age groups, regardless of visual feedback condition, although older adults showed increased after-effects. Physically inactive individuals made larger systematic (but not variable) proprioceptive errors, irrespective of age. However, dynamic proprioceptive acuity was unrelated to adaptation and there was no consistent evidence of proprioceptive recalibration with adaptation to the force-field for any group. Finally, in spite of clear age-dependent loss of spatial working memory capacity, we found no relationship between memory capacity and adaptive performance or proprioceptive acuity. Thus, non-clinical levels of deficit in dynamic proprioception, due to age or physical inactivity, do not affect force-field adaptation, even under conditions of limited visual feedback that might require greater proprioceptive control.We applied high-density EEG to examine steady-state visual evoked potentials (SSVEPs) during a perceptual/semantic stimulus repetition design. SSVEPs are evoked oscillatory cortical responses at the same frequency as visual stimuli flickered at this frequency. In repetition designs, stimuli are presented twice with the repetition being task irrelevant. The cortical processing of the second stimulus is commonly characterized by decreased neuronal activity (repetition suppression). The behavioral consequences of stimulus repetition were examined in a companion reaction time pre-study using the same experimental design as the EEG study. During the first presentation of a stimulus, we confronted participants with drawings of familiar object images or object words, respectively. see more The second stimulus was either a repetition of the same object image (perceptual repetition; PR) or an image depicting the word presented during the first presentation (semantic repetition; SR)-all flickered at 15 Hz to elicit SSVEPs. The behavioral study revealed priming effects in both experimental conditions (PR and SR).
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