72 results match your criteria: "Charles University and General Faculty Hospital[Affiliation]"

Background: The objective was to identify predictors of societal costs covering formal and informal care utilization by older home care clients in 11 European countries.

Methods: Societal costs of 1907 older clients receiving home care for 12 months from the Aged in Home care (AdHoc) study were estimated using the InterRAI Minimum Data Set for Home Care's (MDS-HC) resource use items. Predictors (medical, functional, and psychosocial domains) of societal costs were identified by performing univariate and multivariate generalized linear model analyses.

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The levonorgestrel-releasing intrauterine system (LNG-IUS) is widely used and recommended as a reliable contraceptive. It also acts by opposing the effects of estrogen on the endometrium, thereby preventing development of endometrial hyperplasia and its possible malignant transformation. This case describes a 52-year-old multiparous amenorrhoeic patient who was seen in the gynecology outpatient department for a routine control 46 months after the insertion LNG-IUS as contraception.

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KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes.

Cell Rep

October 2018

Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, 20139 Milan, Italy; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy. Electronic address:

Transdifferentiation of fibroblasts into induced neuronal cells (iNs) by the neuron-specific transcription factors Brn2, Myt1l, and Ascl1 is a paradigmatic example of inter-lineage conversion across epigenetically distant cells. Despite tremendous progress regarding the transcriptional hierarchy underlying transdifferentiation, the enablers of the concomitant epigenome resetting remain to be elucidated. Here, we investigated the role of KMT2A and KMT2B, two histone H3 lysine 4 methylases with cardinal roles in development, through individual and combined inactivation.

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Background: in 2010, the European Working Group on Sarcopenia in Older People (EWGSOP) published a sarcopenia definition that aimed to foster advances in identifying and caring for people with sarcopenia. In early 2018, the Working Group met again (EWGSOP2) to update the original definition in order to reflect scientific and clinical evidence that has built over the last decade. This paper presents our updated findings.

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A unique de novo gain-of-function variant in associated with intellectual disability and hyperkinetic movement disorder.

Cold Spring Harb Mol Case Stud

December 2018

Institut für Neurogenomik, Helmholtz Zentrum München, Munich, 85764, Germany.

Calcium/calmodulin-dependent protein kinases (CaMKs) are key mediators of calcium signaling and underpin neuronal health. Although widely studied, the contribution of CaMKs to Mendelian disease is rather enigmatic. Here, we describe an unusual neurodevelopmental phenotype, characterized by milestone delay, intellectual disability, autism, ataxia, and mixed hyperkinetic movement disorder including severe generalized dystonia, in a proband who remained etiologically undiagnosed despite exhaustive testing.

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Aim: Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening.

Methods: An international working group was established to discuss ways to improve the early diagnosis of mucopolysaccharidosis type I.

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Catecholamines are involved in the regulation of a wide variety of vital functions. The β-adrenergic receptor (β-AR) - adenylyl cyclase system has been identified early in embryogenesis before the heart has received adrenergic innervation. The structure of β-receptors in the immature myocardium is similar to that in adults; there are, however, significant quantitative developmental changes in the inotropic and chronotropic responsiveness.

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Aims: While the effect of different types of incontinence on the quality of life (QoL) has been clearly documented, the information about the impact of incontinence severity on QoL in women is lacking. Therefore, we investigated whether increasingly severe degrees of incontinence were linearly correlated with poorer QoL.

Methods: We included 391 incontinent women and 81 continent volunteers in the study and assessed them in accordance with routine clinical practice.

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Epigenome-based cancer risk prediction: rationale, opportunities and challenges.

Nat Rev Clin Oncol

May 2018

Department of Applied Health Research, Institute of Epidemiology and Healthcare, University College London, UK.

The incidence of cancer is continuing to rise and risk-tailored early diagnostic and/or primary prevention strategies are urgently required. The ideal risk-predictive test should: integrate the effects of both genetic and nongenetic factors and aim to capture these effects using an approach that is both biologically stable and technically reproducible; derive a score from easily accessible biological samples that acts as a surrogate for the organ in question; and enable the effectiveness of risk-reducing measures to be monitored. Substantial evidence has accumulated suggesting that the epigenome and, in particular, DNA methylation-based tests meet all of these requirements.

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Purpose: To evaluate the feasibility of discontinuing treatment with mirabegron once symptoms have subsided in patients with overactive bladder (OAB).

Methods: The present study evaluated a total of 159 female OAB patients (age 62.9 ± 12.

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Introduction A standard osteosynthetic material for maxillofacial skeleton is titanium and its alloys. The convenience of degradable material is avoiding of second surgery in cases, where removal of the material is necessary. Magnesium biodegradable alloys have similar mechanic properties as cortical bone - reasonable corrosion and sufficient biologic properties.

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The non-reducing disaccharide trehalose can serve as a protectant against a range of environmental stressors, such as heat, cold, or dehydration, in both prokaryotes and eukaryotes, with the exception of vertebrates. Here, we analyzed trehalose metabolism in the facultatively parasitic organism Acanthamoeba castellanii, known to respond to unfavorable external conditions by forming two resistant stages: a cyst, produced in the case of chronic stress, and a pseudocyst, formed in reaction to acute stress. The possible role of trehalose in the resistant stages was investigated using a combination of bioinformatic, molecular biological and biochemical approaches.

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Aims: These recommendations aim to improve care for patients with type 2 diabetes (T2D) at high cardiovascular (CV) risk in Central and Eastern Europe. Cardiovascular disease (CVD) and/or chronic kidney disease (CKD) are major interdependent comorbidities in patients with T2D, accounting for 50% of mortality. Following recent CV outcomes trial (CVOT) results, including those from EMPA-REG OUTCOME, LEADER, SUSTAIN™-6 and, most recently, the CANVAS study, it is essential to develop regional expert consensus recommendations to aid physicians in interpreting these newest data to clinical practice.

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The influence of smoking and cessation on the human reproductive hormonal balance.

Physiol Res

September 2017

Third Medical Department - First Faculty of Medicine, Charles University and General Faculty Hospital in Prague, Prague, Czech Republic, Institute of Endocrinology, Prague, Czech Republic.

Smoking is the most widespread substance dependence in the world. Nicotine and some other components of the cigarette smoke cause various endocrine imbalances, and have negative effects on pituitary, thyroid, adrenal, testicular and ovarian functions. Here, we examined studies that describe the influence of smoking and smoking cessation on the male and female reproductive systems.

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Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Neurogenetics

December 2017

Institut für Neurogenomik, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.

Combined and complex dystonias are heterogeneous movement disorders combining dystonia with other motor and/or systemic signs. Although we are beginning to understand the diverse molecular causes of these disease entities, clinical pattern recognition and conventional genetic workup achieve an etiological diagnosis only in a minority of cases. Our goal was to provide a window into the variable genetic origins and distinct clinical patterns of combined/complex dystonia more broadly.

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Circulating cell-free DNA (cfDNA) may be involved in immune response regulation. We studied the variations in abundance of telomeric sequences in plasma and serum in young healthy volunteers and the ability of cfDNA contained in these samples to co-activate the TNF-α m RNA expression in monocytes. We performed qPCR to determine relative telomere length (T/S ratios) in plasma, serum and whole blood of 36 volunteers.

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KMT2B rare missense variants in generalized dystonia.

Mov Disord

July 2017

Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.

Background: Recently a novel syndrome of childhood-onset generalized dystonia originating from mutations in lysine-specific methyltransferase 2B (KMT2B) has been reported.

Methods: We sequenced the exomes of 4 generalized dystonia-affected probands recruited from a Prague movement disorders center (Czech Republic). Bioinformatics analyses were conducted to select candidate causal variants in described dystonia-mutated genes.

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MicroRNAs (miRNAs) in urine are examined as potential biomarkers. We examined the urine samples from 70 individuals (45 males, 25 females, mean age 65 years, range 20-84 years). Of the urine donors, 15 were healthy volunteers, 5 were patients with non-cancer diseases, 50 were patients with different stages of bladder cancer.

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Metformin, vildagliptin and their combination are widely used for the treatment of diabetes, but little is known about the metabolic responses to these treatments. In the present study, NMR-based metabolomics was applied to detect changes in the urinary metabolomic profile of a mouse model of diet-induced obesity in response to these treatments. Additionally, standard biochemical parameters and the expression of enzymes involved in glucose and fat metabolism were monitored.

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Glucose variability, HbA1c and microvascular complications.

Rev Endocr Metab Disord

March 2016

3rd Department of Internal Medicine, Laboratory for Endocrinology and Metabolism, 1st Faculty of Medicine, Charles University and General Faculty Hospital, U Nemocnice 1, 12808, Prague 2, Czech Republic.

Microvascular complications in diabetes are associated with poor long-term diabetes control as measured by HbA1c levels. Glucose fluctuations are related to oxidative stress, endothelial dysfunction, and inflammation, factors traditionally associated with the pathogenesis of vascular damage. Glucose variability has been associated with macrovascular disease in some studies but any association with microvascular disease remains controversial.

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Objective: Conclusive data comparing treatment efficacy of OAB pharmacotherapy in normal weight versus obese patients are not available. Obesity represents a risk factor for OAB/LUTS. We hypothesized that the effect of treatment with mirabegron might be diminished in obese patients.

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Metabolomic profiling of urinary changes in mice with monosodium glutamate-induced obesity.

Anal Bioanal Chem

January 2016

Institute of Microbiology, Academy of Sciences of the Czech Republic, Vídeňská 1083, 142 20, Prague 4, Czech Republic.

Obesity with related complications represents a widespread health problem. The etiopathogenesis of obesity is often studied using numerous rodent models. The mouse model of monosodium glutamate (MSG)-induced obesity was exploited as a model of obesity combined with insulin resistance.

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Introduction And Hypothesis: Information on urethral bulking therapy in women after previous pelvic radiotherapy is lacking. This study compared the safety and efficacy of polyacrylamide intraurethral injections in patients with and without previous radiotherapy.

Methods: A total of 46 patients with severe stress urinary incontinence (SUI) were enrolled in this multicenter prospective trial.

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Background: Resistance from antagonistic muscle groups might be a crucial factor reducing function in chronic hemiparesis. The resistance due to spastic co-contraction might be reduced by botulinum toxin injections. We assessed the effects of abobotulinumtoxinA injection in the upper limb muscles on muscle tone, spasticity, active movement, and function.

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