Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.

Background: The polygenic risk score (PRS) allows the quantification of the polygenic effect of many low-penetrance alleles on the risk of breast cancer (BC). This study aimed to evaluate the performance of two sets comprising 77 or 313 low-penetrance loci (PRS77 and PRS313) in patients with BC in the Czech population.

Methods: In a retrospective case-control study, variants were genotyped from both the PRS77 and PRS313 sets in 1329 patients with BC and 1324 noncancer controls, all women without germline pathogenic variants in BC predisposition genes.

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.

Safety and Efficacy of Baseline Antiplatelet Treatment in Patients Undergoing Mechanical Thrombectomy for Ischemic Stroke: Antiplatelets Before Mechanical Thrombectomy.

Purpose: To investigate the safety and efficacy of baseline antiplatelet treatment in patients with acute ischemic stroke (AIS) undergoing mechanical thrombectomy (MT).

Materials And Methods: Baseline use of antiplatelet medication before MT for (AIS) may provide benefit on reperfusion and clinical outcome but could also carry an increased risk of intracranial hemorrhage (ICH). All consecutive patients with AIS and treated with MT with and without intravenous thrombolysis (IVT) between January 2012 and December 2019 in all centers performing MT nationwide were reviewed.

Germline multigene panel testing of patients with endometrial cancer.

Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, germline genetic testing (GGT) was performed in 527 patients with EC using a next generation sequencing panel targeting 226 genes, including 5 Lynch syndrome (LS) and 14 hereditary breast and ovarian cancer (HBOC) predisposition genes, and 207 candidate predisposition genes.

The role of abdominal ultrasonography in patients with isoattenuating pancreatic carcinoma.

Aims: The main objective of this study was to determine the sensitivity of abdominal ultrasonography (US) in patients with isoattenuating pancreatic carcinoma and to compare the frequency of secondary signs on abdominal US and endoscopic ultrasonography (EUS) in these tumours.

Methods: Twenty-four patients with histologically or cytologically verified isoattenuating pancreatic carcinoma who underwent abdominal US, contrast-enhanced CT and EUS of the pancreas as part of the diagnostic workup were included in this retrospective study. The sensitivity of abdominal US in detecting the isoattenuating pancreatic carcinoma was investigated and the frequency of secondary signs of isoattenuating pancreatic carcinoma on abdominal US and EUS was compared.

Ultrashort Door-to-Needle Time for Intravenous Thrombolysis Is Safer and Improves Outcome in the Czech Republic: Nationwide Study 2004 to 2019.

Background The benefit of intravenous thrombolysis is time dependent. It remains unclear, however, whether dramatic shortening of door-to-needle time (DNT) among different types of hospitals nationwide does not compromise safety and still improves outcome. Methods and Results Multifaceted intervention to shorten DNT was introduced at a national level, and prospectively collected data from a registry between 2004 and 2019 were analyzed.

The relationship between symptom onset-to-needle time and ischemic outcomes in patients with acute myocardial infarction treated with primary PCI: Observations from Prague-18 Study.

Objectives: Based on previous studies with clopidogrel, the time between acute myocardial infarction (AMI) symptoms onset and primary percutaneous coronary intervention (PCI) was proven as important prognostic factor. Our aim was to assess the relationship between symptoms onset to needle time (SNT) and procedural results and the occurrence of ischemic endpoints in primary angioplasty patients treated with potent P2Y12 inhibitors.

Methods: A total of 1,131 out of 1,230 patients randomized to the Prague-18 study (prasugrel vs.

Nationwide screening for Fabry disease in unselected stroke patients.

Background And Aims: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence of FD and stroke risk in unselected stroke patients.

Stent Selection for Primary Angioplasty and Outcomes in the Era of Potent Antiplatelets. Data from the Multicenter Randomized Prague-18 Trial.

Drug-eluting stents (DES) are the recommended stents for primary percutaneous coronary intervention (PCI). This study aimed to determine why interventional cardiologists used non-DES and how it influenced patient prognoses. The efficacy and safety outcomes of the different stents were also compared in patients treated with either prasugrel or ticagrelor.

Stroke 20 20: Implementation goals for intravenous thrombolysis.

Introduction: Knowledge of the implementation gap would facilitate the use of intravenous thrombolysis in stroke, which is still low in many countries. The study was conducted to identify national implementation targets for the utilisation and logistics of intravenous thrombolysis.

Material And Method: Multicomponent interventions by stakeholders in health care to optimise prehospital and hospital management with the goal of fast and accessible intravenous thrombolysis for every candidate.

New Prehospital Triage for Stroke Patients Significantly Reduces Transport Time of EVT Patients Without Delaying IVT.

Ischemic stroke is a leading cause of mortality and morbidity worldwide. The time from stroke onset to treatment impacts clinical outcome. Here, we examined whether changing a triage model from "drip and ship" to "mothership" yielded significant reductions of onset-to-groin time (OGT) in patients receiving EVT and onset-to-needle time (ONT) in IVT-treated patients, compared to before FAST-PLUS test implementation.

Improvement of the Diagnosis of Isoattenuating Pancreatic Carcinomas by Defining their Characteristics on Contrast Enhanced Computed Tomography and Endosonography with Fine-Needle Aspiration (EUS-FNA).

(1) Background. The aim was to define typical features of isoattenuating pancreatic carcinomas on computed tomography (CT) and endosonography and determine the yield of fine-needle aspiration endosonography (EUS-FNA) in their diagnosis. (2) Methods.

Concentrating stroke care provision in the Czech Republic: The establishment of Stroke Centres in 2011 has led to improved outcomes.

This article describes policy processes that have led to the re-organisation of stroke care in the Czech Republic since 2011, which has been part of a broader process of care concentration in several medical fields. Currently, stroke care is provided by 13 Comprehensive and 32 Primary Stroke Centres. The paper explains factors that supported the reform implementation, reviews implications, and discusses future challenges.

Navigational Needs and Preferences of Hospital Patients and Visitors: What Prospects for Smart Technologies?

In this paper, we map navigational needs and preferences of patients and visitors to evaluate the appropriateness of a smartphone navigation application in the hospital in contrast to other, more traditional navigational cues. We test the effects of sociodemographic variables (age, gender, education) on wayfinding strategies and preferences of respondents (using chi2 tests). Empirical research is based on the survey among 928 patients/visitors of the Vítkovice Hospital in Ostrava, Czechia.

Sleep-disrupting effects of nocturnal nursing interventions in intensive care unit patients: A systematic review.

Patients staying in the intensive care unit (ICU) require constant monitoring and numerous nursing interventions performed as needed, irrespective of daytime or night-time. The disturbing effect of nocturnal nursing interventions and their contribution to sleep disruptions are unclear. The review analysed nocturnal nursing interventions, and their character, frequency and effects on sleep quality.

Thrombectomy vs medical management in low NIHSS acute anterior circulation stroke.

Objective: To undertake an effectiveness and safety analysis of EVT in patients with LVO and NIH Stroke Scale (NIHSS) score ≤6 using datasets of multicenter and multinational nature.

Methods: We pooled patients with anterior circulation occlusion from 3 prospective international cohorts. Patients were eligible if presentation occurred within 12 hours from last known well and baseline NIHSS ≤6.

Intraoperative fluorescence angiography and risk factors of anastomotic leakage in mini-invasive low rectal resections.

Background: One of the prerequisites for proper healing of the anastomosis after a colorectal resection is adequate blood supply to the connected intestinal segments. It has been proposed that adequate visualization of the blood flow using indocyanine green (ICG) could lead to the reduction in the incidence of anastomotic leakage (AL). The aim of this study was to assess the effectiveness of intraoperative fluorescence angiography (FA) in decreasing the incidence of AL after minimally invasive low anterior resection (LAR) with total mesorectal excision (TME) in rectal cancer patients and to determine predictors of anastomotic leak.

The Effect of Diabetes on Prognosis Following Myocardial Infarction Treated with Primary Angioplasty and Potent Antiplatelet Therapy.

Purpose: To investigate the prognostic significance of diabetes mellitus (DM) in patients with high risk acute myocardial infarction (AMI) treated with primary percutaneous coronary intervention (pPCI) in the era of potent antithrombotics.

Methods: Data from 1230 ST-segment elevation myocardial infarction (STEMI) patients enrolled in the PRAGUE-18 (prasugrel vs. ticagrelor in pPCI) study were analyzed.

The prognostic significance of periprocedural infarction in the era of potent antithrombotic therapy. The PRAGUE-18 substudy.

Background: The prognostic significance of periprocedural myocardial infarction (MI) remains controversial.

Methods And Results: The study aims to investigate the incidence of periprocedural MI in the era of high sensitivity diagnostic markers and intense antithrombotics, and its impact on early outcomes of patients with acute MI treated with primary angioplasty (pPCI). Data from the PRAGUE-18 (prasugrel versus ticagrelor in pPCI) study were analyzed.

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates treatment and preventive strategies reducing OC mortality in mutation carriers. However, the prevalence of germline mutations varies among populations and many rarely mutated OC predisposition genes remain to be identified.

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.

Germline mutations in checkpoint kinase 2 (CHEK2), a multiple cancer-predisposing gene, increase breast cancer (BC) risk; however, risk estimates differ substantially in published studies. We analyzed germline CHEK2 variants in 1,928 high-risk Czech breast/ovarian cancer (BC/OC) patients and 3,360 population-matched controls (PMCs). For a functional classification of VUS, we developed a complementation assay in human nontransformed RPE1-CHEK2-knockout cells quantifying CHK2-specific phosphorylation of endogenous protein KAP1.