585 results match your criteria: "Thomayer Hospital[Affiliation]"

Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of a group of transmissible spongiform encephalopathies (prion diseases). The etiology of the sporadic form of CJD is still unclear. sCJD can occur in combination with other neurodegenerative diseases, which further complicates the diagnosis.

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Background: Bulbous neuritic changes in neuritic plaques have already been described, and their possible effect on the clinical course of the disease has been discussed.

Objective: In our study, we focused on the location and density of these structures in patients with only Alzheimer's disease (AD) and patients with AD in comorbidity with synucleinopathies.

Methods: Utilizing immunohistochemistry and confocal microscopy, we evaluated differences of neocortical and archicortical neuritic plaques and the frequency of bulbous changes in the archicortex of 14 subjects with Alzheimer's disease (AD), 10 subjects with the Lewy body variant of Alzheimer's disease (AD/DLB), and 4 subjects with Alzheimer's disease with amygdala Lewy bodies (AD/ALB).

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Body composition changes during and after curative chemotherapy in patients with testicular cancer.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

March 2022

Department of Internal Medicine, Third Faculty of Medicine, Charles University and Thomayer Hospital, Prague, Czech Republic.

Background: Testicular cancer is associated with excellent prognosis and cure is achieved in most patients with advanced cancer treated with cisplatin-based chemotherapy. However, testicular cancer survivors are at increased risk of accelerated atherosclerosis, which significantly contributes to their late morbidity and mortality. Atherosclerosis is associated with a higher proportion of fat mass and especially with increased amount of visceral fat.

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Aims: The aim of the present paper was to provide an up-to-date view on epidemiology and risk factors of heart failure (HF) development after myocardial infarction.

Methods And Results: Based on literature review, several clinical risk factors and biochemical, genetic, and imaging biomarkers were identified to predict the risk of HF development after myocardial infarction.

Conclusions: Heart failure is still a frequent complication of myocardial infarction.

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One of the principal mechanisms of chemotherapy resistance in highly frequent solid tumors, such as colorectal cancer (CRC), is the decreased activity of drug transport into tumor cells due to low expression of important membrane proteins, such as solute carrier (SLC) transporters. Sequence complementarity is a major determinant for target gene recognition by microRNAs (miRNAs). Single-nucleotide polymorphisms (SNPs) in target sequences transcribed into messenger RNA may therefore alter miRNA binding to these regions by either creating a new site or destroying an existing one.

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White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis.

Mol Genet Metab

March 2021

Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic. Electronic address:

Objective: Despite profound neurological symptomatology there are only few MRI studies focused on the brain abnormalities in alpha-mannosidosis (AM). Our aim was to characterize brain MRI findings in a large cohort of AM patients along with clinical manifestations.

Methods: Twenty-two brain MRIs acquired in 13 untreated AM patients (8 M/5F; median age 17 years) were independently assessed by three experienced readers and compared to 16 controls.

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Background: First-line durvalumab plus etoposide with either cisplatin or carboplatin (platinum-etoposide) showed a significant improvement in overall survival versus platinum-etoposide alone in patients with extensive-stage small-cell lung cancer (ES-SCLC) in the CASPIAN study. Here we report updated results, including the primary analysis for overall survival with durvalumab plus tremelimumab plus platinum-etoposide versus platinum-etoposide alone.

Methods: CASPIAN is an ongoing, open-label, sponsor-blind, randomised, controlled phase 3 trial at 209 cancer treatment centres in 23 countries worldwide.

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Background And Aims: Matrix Gla protein (MGP) is a natural inhibitor of vascular calcification critically dependent on circulating vitamin K status. Growth differentiation factor 15 (GDF-15) is a regulatory cytokine mainly of the inflammatory and angiogenesis pathways, but potentially also involved in bone mineralization. We sought to determine whether these two circulating biomarkers jointly influenced morbidity and mortality risk in patients with chronic coronary heart disease (CHD).

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Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study.

Ann Epidemiol

April 2021

Arkansas Center for Birth Defects Research and Prevention and Arkansas Reproductive Health Monitoring System and Department of Epidemiology, Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences, Little Rock, AR. Electronic address:

Purpose: This study determined the prevalence, mortality, and time trends of children with congenital diaphragmatic hernia (CDH).

Methods: Twenty-five hospital- and population-based surveillance programs in 19 International Clearinghouse for Birth Defects Surveillance and Research member countries provided birth defects mortality data between 1974 and 2015. CDH cases included live births, stillbirths, or elective termination of pregnancy for fetal anomalies.

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Aim: The aim of this study was to retrospectively analyze treatment outcomes and tolerance in patients in whom cabozantinib was used after previous targeted therapy.

Patients And Methods: Cabozantinib was administered in dose 60 mg/day, a subset of patients received initial dose of 40 mg/day. The treatment was administered until to progression or unacceptable toxicity.

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Retinal microcirculation reflects retinal perfusion abnormalities and retinal arterial structural changes at relatively early stages of various cardiovascular diseases. Our objective has been to establish reference values for major functional and structural parameters of retinal microcirculation in a randomly selected urban population sample. A total of 398 randomly selected individuals from an urban population aged 25 to 65 years, resident in Pilsen, Czech Republic, were screened for major cardiovascular risk factors.

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Article Synopsis
  • The study aimed to assess the results of chromosomal abnormality screening in a population with high first-trimester screening but low cell-free DNA testing rates.
  • Data was collected from the National Registry of Congenital Anomalies in the Czech Republic, focusing on the rates of major autosomal trisomies and other chromosomal abnormalities during prenatal diagnostics from 2012 to 2016.
  • Findings indicated an increase in major autosomal trisomies diagnosed, while other chromosomal abnormalities decreased; there was also a significant reduction in invasive testing procedures over the years.
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Background And Aims: Buried bumper syndrome (BBS) is a rare adverse event of percutaneous endoscopic gastrostomy (PEG) placement in which the internal bumper migrates through the stomal tract to become embedded within the gastric wall. Excessive tension between the internal and external bumpers, causing ischemic necrosis of the gastric wall, is believed to be the main etiologic factor. Several techniques for endoscopic management of BBS have been described using off-label devices.

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Purpose: A national primary and secondary healthcare-level study in the Czech Republic has not yet been conducted to evaluate the prevalence of migraine. We analyzed the current treatment patterns (acute and prophylactic) in migraine patients and the number of migraine patients potentially eligible for treatment with recent calcitonin gene-related peptide (CGRP) pathway-targeted therapies.

Methods: This retrospective study utilized the Ministry of the Interior Health Insurance Fund claims database of the Czech Republic wherein every citizen is insured.

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Article Synopsis
  • The study aimed to evaluate the effectiveness of aflibercept in treating neovascular age-related macular degeneration (nAMD) over two years, focusing on the response of different types of choroidal neovascular membranes (CNV).
  • A total of 135 patients were involved, receiving a fixed injection regimen in the first year and a PRN approach in the second year, with visual acuity and retinal thickness assessed at multiple time points.
  • Results showed improvements in best corrected visual acuity (BCVA) and reductions in central retinal thickness (CRT) across the CNV types over the 24-month period, indicating positive treatment responses.
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Objectives: We reviewed a spectrum of congenital heart defects assessed in our center between 1/2010 and 4/2020, evaluated their gross anatomy, assessed the age distribution, evaluated performed surgical procedures, and correlated gross and ultrasound findings.

Methods: All necroptic cases and explanted hearts that underwent specialized cardiac autopsy were included in this study. Autopsy findings including gross description of congenital heart defects together with echocardiographic findings were retrospectively assessed.

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Impact of Hormone Receptor Status on the Behaviour of HER2+ Breast Cancer.

In Vivo

June 2021

Institute of Biostatistics and Analyses, Faculty of Medicine, Masaryk University, Brno, Czech Republic

Background/aim: The study aimed to evaluate differences in the overall survival of HER2+ breast cancer patients treated with regard to their hormone receptors negativity or positivity. We evaluated a cohort of patients treated with trastuzumab in the Czech Republic.

Patients And Methods: The present study is a retrospective analysis of patients whose data were recorded in a nationwide non-interventional, post-authorisation database BREAST.

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The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.

Brain Sci

October 2020

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 128 08 Prague 2, Czech Republic.

Article Synopsis
  • This study analyzed data from 47 Czech patients with Single, Large-Scale Mitochondrial DNA Deletions (SLSMD), focusing on clinical and genetic factors.
  • The diagnosis involved long-range PCR testing of mtDNA from muscle biopsies and other sources, revealing that 57% of patients showed symptoms before age 16, without significant differences between pediatric and adult cases in terms of symptom severity.
  • The findings suggest that while pediatric cases of Progressive External Ophthalmoplegia (PEO) do not increase risk for other complications, Pearson Syndrome remains a significant cause of childhood mortality, highlighting the need for thorough diagnostic methods, including analysis of buccal swabs and urinary cells.
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Monogenic variants in dystonia: an exome-wide sequencing study.

Lancet Neurol

November 2020

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

Background: Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined dystonia with other neurological involvement). However, our understanding of its aetiology is still incomplete. We aimed to elucidate the monogenic causes for the major clinical categories of dystonia.

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Introduction: Recent studies suggested potential positive correlations between HLA-specific antibodies and development of cardiac allograft vasculopathy (CAV).

Methods: This prospective two-center study investigated early progression of CAV by coronary optical coherence tomography in 1 month and 12 months after heart transplantation (HTx) in 104 patients. Detection and characterization of donor specific (DSA) and MHC class-I polypeptide-related sequence A (MICA) antibodies were performed before, 1, 6 and 12 months after transplantation.

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Purpose: This study is aimed at investigating gender differences in the medical management of patients with coronary heart disease (CHD).

Methods: Analyses were based on the ESC EORP EUROASPIRE V (European Survey Of Cardiovascular Disease Prevention And Diabetes) survey. Consecutive patients between 18 and 80 years, hospitalized for a coronary event, were included in the study.

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Background: Omphalocele is the second most common abdominal birth defect and often occurs with other structural and genetic defects. The objective of this study was to determine omphalocele prevalence, time trends, and mortality during early childhood, by geographical region, and the presence of associated anomalies.

Methods: We conducted a retrospective study with 23 birth defect surveillance systems in 18 countries who are members of the International Clearinghouse for Birth Defects Surveillance and Research that submitted data on cases ascertained from 2000 through 2012, approximately 16 million pregnancies were surveyed that resulted in live births, stillbirths, or elective terminations of pregnancy for fetal anomalies (ETOPFA) and cases with omphalocele were included.

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Objective: People's socioeconomic status (SES) has a major impact on the risk of atherosclerotic cardiovascular disease (ASCVD) in primary prevention. In patients with existing ASCVD these associations are less documented. Here, we evaluate to what extent SES is still associated with patients' risk profile in secondary prevention.

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Purpose Of Review: Although respiratory viruses are common triggers of asthma exacerbation, it is unknown whether this also applies to infection with SARS-CoV-2. Indeed, patients with asthma and allergy appear underrepresented in large reports of COVID-19 cases worldwide. In this review, we evaluate existing literature on this topic and potential underlying mechanisms for any interrelationship between asthma and COVID-19.

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