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Anderson-Fabry disease (AFD) is an X-linked inherited lysosomal disease caused by a defect in the gene encoding lysosomal enzyme α-galactosidase A (GLA). Atrio-ventricular (AV) nodal conduction defects and sinus node dysfunction are common complications of the disease. It is not fully elucidated how frequently AFD is responsible for acquired AV block or sinus node dysfunction and if some AFD patients could manifest primarily with spontaneous bradycardia in general population. The purpose of study was to evaluate the prevalence of AFD in male patients with implanted permanent pacemaker (PM).The prospective multicentric screening in consecutive male patients between 35 and 65 years with implanted PM for acquired third- or second- degree type 2 AV block or symptomatic second- degree type 1 AV block or sinus node dysfunction was performed.A total of 484 patients (mean age 54 ± 12 years at time of PM implantation) were enrolled to the screening in 12 local sites in Czech Republic. Out of all patients, negative result was found in 481 (99%) subjects. In 3 cases, a GLA variant was found, classified as benign: p.Asp313Tyr, p.D313Y). Pathogenic GLA variants (classical or non-classical form) or variants of unclear significance were not detected.The prevalence of pathogenic variants causing AFD in a general population sample with implanted permanent PM for AV conduction defects or sinus node dysfunction seems to be low. Our findings do not advocate a routine screening for AFD in all adult males with clinically significant bradycardia.

The prognosis of refractory out-of-hospital cardiac arrest (OHCA) is generally poor. A recent Prague OHCA study has demonstrated that an invasive approach (including extracorporeal cardiopulmonary resuscitation, ECPR) is a feasible and effective treatment strategy in refractory OHCA. Here we present a post-hoc analysis of the role of initial rhythm on patient outcomes.The study enrolled patients who had a witnessed OHCA of presumed cardiac cause without early recovery of spontaneous circulation. The initial rhythm was classified as either a shockable or a non-shockable rhythm. The primary outcome was a composite of 180 day-survival with Cerebral Performance in Category 1 or 2.256 (median age 58y, 17% females) patients were enrolled. The median (IQR) duration of resuscitation was 52 (33-68) minutes. 156 (61%) and 100 (39%) of patients manifested a shockable and non-shockable rhythm, respectively. The primary outcome was achieved in 63 (40%) patients with a shockable rhythm and in 5 (5%) patients with a non-shockable rhythm (p 0.001). When patients were analyzed separately based on whether the treatment was invasive (n = 124) or standard (n = 132), the difference in the primary endpoint between shockable and non-shockable initial rhythms remained significant (35/72 (49%) vs 4/52 (8%) in the invasive arm and 28/84 (33%) vs 1/48 (2%) in the standard arm; p 0.001).An initial shockable rhythm and treatment with an invasive approach is associated with a reasonable neurologically favorable survival for 180 days despite refractory OHCA. Non-shockable initial rhythms bear a poor prognosis in refractory OHCA even when ECPR is readily available.

The new software, mediCAD® 3D Knee Sport (mediCAD Hectec GmbH, Altdorf/Landshut, Germany), promises to combine automated digital 3D bone model generation, 3D analysis of lower limb geometry including analysis of the patellofemoral joint, and osteotomy planning. The aim of this study was to evaluate its reliability and accuracy.In this retrospective multi-observer study, three post-mortem CTs were analysed by three observers at three points in time. Reliability was evaluated by calculating the intraclass correlation coefficient (ICC) of interobserver agreement. Accuracy was evaluated using the mean deviation D from the mean and the standard deviation SD from D.Ten of 18 alignment parameters showed excellent, two good and three moderate interobserver agreement. Poor agreement was found for the mechanical medial proximal tibial angle, the trochlear sulcus angle and trochlea depth. Mean interobserver ICC of all parameters ranged from 0.32 to 0.99. Fifteen of 18 parameters showed a low mean deviation D from the mean of 2 mm / 2°. Three parameters related to the patellofemoral joint showed medium or high D (patella tilt, trochlear sulcus angle, patellar ridge angle). These parameters also showed the highest values for the SD of D. The trochlear sulcus angle was found to be the only parameter with high mean deviation (D ≥ 5 mm/5°) with D being 5.67 ± 3.23°.The current version of the software achieves good interobserver reliability and accuracy with the exception of a few measurement parameters.

Background An early postoperative mobilisation shows beneficial effects in terms of complications and mobilisation scores in older adult proximal femur fracture patients. An adequate load-bearing capacity of the operated extremity is essential for early mobilisation. We hypothesize that cement augmentation of the Proximal Femoral Nail antirotation (PFNA) leads to a higher load capacity during postoperative mobilisation compared to a non-cemented PFNA. Methods Forty-nine orthogeriatric patients with pertrochanteric fractures were enrolled consecutively in a maximum care hospital in a pre–post study design (level of evidence 2). A study group of 25 patients received nailing (PFNA) with additional cement augmentation (CA group), whereas the control group of 24 patients received the same fracture fixation without cement augmentation (NCA Group). All patients participated in a gait analysis using an insole force sensor to measure the loading rate (loadsol®, Novel, Munich, Germany) on the fifth postoperative day. Results The NCA group showed a mean age of 75,88 years (SD ± 9.62), the CA a mean age of 81,44 years (SD ± 7.77). The most common fracture type was a pertrochanteric fracture in both groups (NCA: n=20, CA: n=21) Both groups showed no differences with regards to the ASA (NCA: 2.67; CA: 2.68) score and the postoperative Parker Mobility Score (NCA: 2.67; CA: 2.68). Patients who received cement augmentation showed a significant (p=0.004) higher loading rate in the postoperative gait analysis. The CA group showed a loading rate of 58.12% (SD ± 14.50) compared to the uncemented PFNA group with 43.90% (SD ± 18.34). Conclusions Cement augmentation in elderly patients with a proximal femur fracture increased the early postoperative loading rate. Especially in frail patients with poor bone quality cement augmentation should therefore be considered to enhance early mobilisation with full weight bearing in order to reduce complications and improve survival.

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality of life and represent the most common causes of death. Following the introduction of enzyme replacement therapy, early diagnosis and treatment have become essential to slow disease progression and prevent major cardiac complications. Recent advances in the understanding of FD pathophysiology suggest that in addition to Gb3 accumulation, other mechanisms contribute to the development of Fabry cardiomyopathy. Progress in imaging techniques have improved diagnosis and staging of FD-related cardiac disease, suggesting a central role for myocardial inflammation and setting the stage for further research. In addition, with the recent approval of oral chaperone therapy and new treatment developments, the FD-specific treatment landscape is rapidly evolving.

Improvement of sperm quality with low motility by storage could ensure higher success of fertilization and maintain higher genetic diversity, especially for sturgeons, which as endangered species have limited broodstock and gametes. Sperm was collected from mature male sterlet Acipenser ruthenus and motility was evaluated using the CASA system; samples were categorized as GS 'good sperm' (80%) or BS 'bad sperm' (20%). Samples from both groups were incubated with seminal plasma from good- (GSP) and bad-quality sperm (BSP), respectively for 15 min, 6 h, 24 h and 96 h at 4 °C. Motility of BS incubated in GSP increased after different storage times compared to BS incubated in BSP, while the motility and velocity of GS incubated in BSP decreased compared to GS incubated in GSP. Fertilization rates were evaluated with samples stored for 15 min and 6 h post-stripping; fertilization and hatching rate of BS after incubation in GSP increased significantly compared to the BS incubated in BSP. Inorganic ion (Na

Objectives This study sought to analyze safety and outcomes of ventricular tachycardia (VT) substrate ablation during sinus rhythm (SR), without baseline VT induction. Background Safety and outcomes after scar-related VT ablation during SR are not well known. Hemodynamic instability and need for electrical cardioversion can compromise safety of VT ablation procedures. Methods Four hundred twelve consecutive patients with structural heart disease undergoing VT ablation were included in a prospective multicenter registry. Substrate ablation during SR, without baseline VT induction, was the first step of the ablation procedure and the standard protocol. Scar dechanneling was the substrate ablation technique used. VT inducibility was tested after substrate ablation. Results VT induction protocol was negative after substrate ablation in 289 patients (70.1%), completing the procedure in SR. Procedure-related complication rate was 6.5%, including 1 death (0.2%). Thirty-day mortality after first VT ablation procedure was 1.7%. Overall survival was 95.8% and 88.6% at 1 and 3 years of follow-up, respectively. In a multivariable proportional hazards regression model, age ≥70 years (hazard ratio [HR]: 4.95 [2.59 to 9.47]; p Conclusions Substrate ablation during SR avoiding multiple VT induction has low procedure-related complications and low early mortality. Age, chronic obstructive pulmonary disease, and reduced left ventricular ejection fraction, but also incomplete substrate elimination, are predictors of mortality.

Background Cardiovascular disease (CVD) followed by cancer are the two leading causes of death worldwide. SCORE charts have been recommended in Europe to identify individuals at increased CVD risk. However, the SCORE ability to identify individuals at increased risk of cancer has not yet been evaluated. The aim of this study was to determine the SCORE chart calibration in a country with changing CVD epidemiology, and its discrimination ability to identify individuals at increased risk of cancer over 20-years. Methods The present analysis includes data from two cross-sectional independent surveys within the Czech post-MONICA study (randomly selected representative population samples of the Czech Republic, aged 25–64 years); 3209 individuals in 1997/98 and 3612 in 2006–2009. Results The SCORE had reasonable discrimination to predict 10-year CVD mortality, but significantly overestimated the risk across all risk categories. During the 20-year follow up, high and very high-risk categories were associated with an increased risk of cancer morbidity (in particular colorectal, other gastrointestinal, lung and malignant skin) and cancer mortality, as compared to low risk category. Conclusions The present study shows that periodical calibration testing of SCORE charts is needed in countries with changing CVD epidemiology. Furthermore, we show that in middle-aged individuals, identified by SCORE charts as being at high or very high risk for CVD, cancer morbidity and cancer mortality is increased. Rigorous cancer screening may be appropriate in this group, especially in countries with falling CVD mortality, where relative proportion of cancer mortality is increasing.