Case report: A complicated course of Collet-Sicard syndrome after internal carotid artery dissection and lenticulo-striatal artery infarction

A 40-year-old Caucasian man presented with sudden onset of left-sided hemiparesis associated with dysphonia, dysphagia, and right-sided weakness on shoulder elevation and head rotation. The clinical examination revealed deviation of the tongue to the right, absence of right-sided gag reflex, right-sided palatal and vocal cord paresis, and weakness of the right trapezius and sternocleidomastoid muscles; all were in addition to left-sided brachiocephalic-accentuated hemiparesis. The diagnostic examination revealed dissection of the right carotid artery with occlusion of the middle cerebral artery and infarction in the lenticular-striatal artery territory. Mechanical thrombectomy with stent angioplasty of the right internal carotid artery was performed. The paresis of the left side of the body completely regressed within a week after symptom onset, but the dysphonia, weakness of the right trapezius and sternocleidomastoid muscles, and especially dysphagia persisted and regressed slowly but gradually. The patient required percutaneous gastric tube feeding for the next 12 weeks, possibly because of involvement of subcortical white matter tracts. The constellation of symptoms and clinical findings were consistent with Collet-Sicard syndrome, an extremely rare disorder caused by direct compression of the caudal cranial nerves at the base of the skull

Agent-based simulations for protecting nursing homes with prevention and vaccination strategies

Due to its high lethality amongst the elderly, the safety of nursing homes has been of central importance during the COVID-19 pandemic. With test procedures becoming available at scale, such as antigen or RT-LAMP tests, and increasing availability of vaccinations, nursing homes might be able to safely relax prohibitory measures while controlling the spread of infections (meaning an average of one or less secondary infections per index case). Here, we develop a detailed agent-based epidemiological model for the spread of SARS-CoV-2 in nursing homes to identify optimal prevention strategies. The model is microscopically calibrated to high-resolution data from nursing homes in Austria, including detailed social contact networks and information on past outbreaks. We find that the effectiveness of mitigation testing depends critically on the timespan between test and test result, the detection threshold of the viral load for the test to give a positive result, and the screening frequencies of residents and employees. Under realistic conditions and in absence of an effective vaccine, we find that preventive screening of employees only might be sufficient to control outbreaks in nursing homes, provided that turnover times and detection thresholds of the tests are low enough. If vaccines that are moderately effective against infection and transmission are available, control is achieved if 80% or more of the inhabitants are vaccinated, even if no preventive testing is in place and residents are allowed to have visitors. Since these results strongly depend on vaccine efficacy against infection, retention of testing infrastructures, regular voluntary screening and sequencing of virus genomes is advised to enable early identification of new variants of concern.Comment: Supplementary material is included in the manuscript PD

Rare variants in LRRK1 and Parkinson's disease

Approximately 20 % of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset PD to identify 15 potentially causal variants. Segregation analysis and frequency assessment in 862 PD cases and 1,014 ethnically matched controls highlighted variants in EEF1D and LRRK1 as the best candidates. Mutation screening of the coding regions of these genes in 862 cases and 1,014 controls revealed several novel non-synonymous variants in both genes in cases and controls. An in silico multi-model bioinformatics analysis was used to prioritize identified variants in LRRK1 for functional follow- up. However, protein expression, subcellular localization, and cell viability were not affected by the identified variants. Although it has yet to be proven conclusively that variants in LRRK1 are indeed causative of PD, our data strengthen a possible role for LRRK1 in addition to LRRK2 in the genetic underpinnings of PD but, at the same time, highlight the difficulties encountered in the study of rare variants identified by next-generation sequencing in diseases with autosomal dominant or complex patterns of inheritance

Familiäres Parkinson-Syndrom mit Pyramidenbahnzeichen im Allgäu

In der vorliegenden Arbeit wird eine große Allgäuer Familie beschrieben, in welcher gehäuft ein Parkinson-Syndrom auftritt. Untersucht wurden 40 erwachsene Familienmitglieder aus zwei Generationen. Krankheits- und Familienanamnese wurden erhoben, eine klinisch-neurologische Untersuchung durchgeführt, sowie eine Riechtestung und eine neuropsychologische Testung vorgenommen. In manchen Fällen wurden diese Untersuchungen um eine Bildgebung ergänzt. Klinische Symptome vereinbar mit einem Parkinson-Syndrom lagen bei vier Familienmitgliedern im Alter von Mitte 60, bei drei von diesen fielen zusätzlich Pyramidenbahnzeichen auf. Weitere Phänotypen mit variierender Ausprägung von Psychose, Depression, Demenz und essentiellem Tremor traten in der Familie auf. Der Stammbaum legt eine autosomal-dominante Vererbung mit reduzierter Penetranz nahe. Die Daten aus der Bildgebung entsprechen den Befunden beim Morbus Parkinson. Da die Symptomkonstellation in dieser Familie im Vergleich zu bereits veröffentlichten Familien einzigartig ist, könnten genetische Untersuchungen in dieser Familie möglicherweise eine neue, für Parkinson ursächliche Veränderung aufdecken

Vom Aufstand der Massen zum Ende der DDR

UuStB Koeln(38)-911101901 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman

Cement pressurizing reduces radiolucent lines at glenoid: A randomized, multicentric study.

Background The hypothesis of this study is that cement pressurization into the glenoid reduces the rate of radiolucent lines in total shoulder arthroplasty in the mean 25.5 months after the operation. Methods To examine this effect, a multicentric prospective randomized study (level of evidence 1) was initiated: one group (group P, n = 24) received intraoperative pressurization of cement into the cancellous bone of the glenoid, the other cement without pressure (group NoP, n = 27). Inclusion criteria were an osteoarthritis with glenoid erosion <15° and an intact rotator cuff. Results There were no significant differences preoperatively between the groups regarding age (mean age 66 ± 10 years (range 44-81)), gender, range of motion, scores and pathomorphology. Both groups had a significant improvement of the scores, strength, motion and satisfaction 25.5 months after the intervention. The scores were similar between the groups (ns). However, cement pressurization at the glenoid side significantly reduced the incidence of radiolucent lines (p < 0.027). Conclusion This supports the use of this simple technique to improve long-term survival of total shoulder arthroplasty.Level of evidence: 1

Right heart and left atrial strain to differentiate cardiac amyloidosis and Fabry disease

Abstract Echocardiographic differentiation of cardiac amyloidosis (CA) and Fabry disease (FD) is often challenging using standard echocardiographic parameters. We retrospectively analyzed the diagnostic accuracy of right heart and left atrial strain parameters to discriminate CA from FD using receiver operating characteristic curve analyses and logistic regression models. A total of 47 FD and 88 CA patients with left ventricular wall thickening were analyzed. The comparison of both cardiomyopathies revealed significantly reduced global and free wall longitudinal right ventricular strain (RVS; global RVS: CA − 13 ± 4%, n = 67, vs. FD − 18 ± 4%, n = 39, p < 0.001) as well as right atrial strain (RAS; reservoir RAS: CA 12 ± 8%, n = 70, vs. FD 26 ± 9%, n = 40, p < 0.001) and left atrial strain (LAS) in CA patients. Individually, global RVS as well as phasic LAS and RAS showed the highest diagnostic accuracy to distinguish CA and FD. The best diagnostic accuracy was achieved by combining the age, basal RV diameter, global RVS, and reservoir and conduit RAS (area under the curve 0.96 [95% CI 0.90–1.00]). Differential echocardiographic diagnostic work-up of patients with suspected CA or FD can be improved by integrating structural and functional parameters of the right heart and the left atrium. Trial registration: DRKS00027403

Response-Predictive Gene Expression Profiling of Glioma Progenitor Cells In Vitro

Background High-grade gliomas are amongst the most deadly human tumors. Treatment results are disappointing. Still, in several trials around 20% of patients respond to therapy. To date, diagnostic strategies to identify patients that will profit from a specific therapy do not exist. Methods In this study, we used serum-free short-term treated in vitro cell cultures to predict treatment response in vitro. This approach allowed us (a) to enrich specimens for brain tumor initiating cells and (b) to confront cells with a therapeutic agent before expression profiling. Results As a proof of principle we analyzed gene expression in 18 short-term serum-free cultures of high-grade gliomas enhanced for brain tumor initiating cells (BTIC) before and after in vitro treatment with the tyrosine kinase inhibitor Sunitinib. Profiles from treated progenitor cells allowed to predict therapy-induced impairment of proliferation in vitro. Conclusion For the tyrosine kinase inhibitor Sunitinib used in this dataset, the approach revealed additional predictive information in comparison to the evaluation of classical signaling analysis