[First experiences with Cochlear Implant Function Index (CIFI) in Hungary].

The success of cochlear implantation can be evaluated with audiological measurements and quality of life questionnaires. Our aim was to translate and introduce the Cochlear Implant Function Index (CIFI) test to analyze the physical, psychological and social state of our cochlear implant patients. Between 01.

CD34 Identifies a Subset of Proliferating Microglial Cells Associated with Degenerating Motor Neurons in ALS.

Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons accompanied by proliferation of reactive microglia in affected regions. However, it is unknown whether the hematopoietic marker CD34 can identify a subpopulation of proliferating microglial cells in the ALS degenerating spinal cord. Immunohistochemistry for CD34 and microglia markers was performed in lumbar spinal cords of ALS rats bearing the SOD1 mutation and autopsied ALS and control human subjects.

Selective Heart Irradiation Induces Cardiac Overexpression of the Pro-hypertrophic miR-212.

A deleterious, late-onset side effect of thoracic radiotherapy is the development of radiation-induced heart disease (RIHD). It covers a spectrum of cardiac pathology including also heart failure with preserved ejection fraction (HFpEF) characterized by left ventricular hypertrophy (LVH) and diastolic dysfunction. MicroRNA-212 (miR-212) is a crucial regulator of pathologic LVH via FOXO3-mediated pathways in pressure-overload-induced heart failure.

Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.

Background: Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four Genome-Wide Association Studies (GWAS) have been carried out in these populations.

Results: We present a GWAS of skin pigmentation in an admixed sample from Cuba (N = 762).

Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.

Objectives: The diagnosis of hematologic malignancies integrates multiple diagnostic and clinical disciplines. Historically, targeted (single-analyte) genetic testing has been used as reflex to initial prescreening by other diagnostic modalities including flow cytometry, anatomic pathology, and clinical cytogenetics. Given the wide range of mutations associated with hematologic malignancies a DNA/RNA-based NGS panel can provide a more effective and economical approach to comprehensive testing of patients as an initial, tier-1 screen.

Accurate needle-free assessment of myocardial oxygenation for ischemic heart disease in canines using magnetic resonance imaging.

Myocardial oxygenation-the ability of blood vessels to supply the heart muscle (myocardium) with oxygen-is a critical determinant of cardiac function. Impairment of myocardial oxygenation is a defining feature of ischemic heart disease (IHD), which is caused by pathological conditions that affect the blood vessels supplying oxygen to the heart muscle. Detecting altered myocardial oxygenation can help guide interventions and prevent acute life-threatening events such as heart attacks (myocardial infarction); however, current diagnosis of IHD relies on surrogate metrics and exogenous contrast agents for which many patients are contraindicated.

[Analysis of prognostic factors influencing the effectiveness of treatment in sudden sensorineural hearing loss].

Sudden sensorineural hearing loss is defined as a greater than 30 dB deterioration in at least 3 consecutive frequencies occurring within 72 hours. The disease is mostly idiopathic and needs an urgent treatment. Between 01.

F-Labeled PET Probe Targeting Enhancer of Zeste Homologue 2 (EZH2) for Cancer Imaging.

The enzyme enhancer of zeste homologue 2 (EZH2) plays a catalytic role in histone methylation (H3K27me3), one of the epigenetic modifications that is dysregulated in cancer. The development of a positron emission tomography (PET) imaging agent targeting EZH2 has the potential to provide a method of stratifying patients for epigenetic therapies. In this study, we designed and synthesized a series of fluoroethyl analogs based upon the structure of EZH2 inhibitors UNC1999 and EPZ6438.

Ligand entry in human ileal bile acid-binding protein is mediated by histidine protonation.

Human ileal bile acid-binding protein (hI-BABP) has a key role in the intracellular transport of bile salts. To explore the role of histidine protonation in the binding process, the pH-dependence of bile salt binding and internal dynamics in hI-BABP was investigated using NMR spectroscopy and biophysical tools. Thermodynamic and kinetic measurements show an increase in the overall binding affinity and the association rate constant of the first binding step below the pK of the histidines, suggesting that ligand binding is favoured by the protonated state.

Emergence of Microglia Bearing Senescence Markers During Paralysis Progression in a Rat Model of Inherited ALS.

Age is a recognized risk factor for amyotrophic lateral sclerosis (ALS), a paralytic disease characterized by progressive loss of motor neurons and neuroinflammation. A hallmark of aging is the accumulation of senescent cells. Yet, the pathogenic role of cellular senescence in ALS remains poorly understood.

Screening for Problematic Internet Use May Help Identify Impulse Control Disorders in Parkinson's Disease.

Background: Impulse control disorders in Parkinson's disease (PD) represent emerging problems with potentially devastating consequences. The standard screening methods for impulse control disorders are clinically imperfect. Although it is rarely reported, many patients utilize the Internet to fulfill their compulsive behaviors because of its easy accessibility.

Adversity and Depression: The Moderating Role of Stress Reactivity among High and Low Risk Youth.

Adverse life events have been causally linked to depression among youth at high risk for depression. But given that not all high-risk youth develop depression following adversity, individual differences in various processes, including physiological reactivity to stress, are likely to be at play. This longitudinal prospective study tested the hypothesis that, among high-risk youth exposed to adversities, extent of physiological reactivity to laboratory stress (indexed as respiratory sinus arrhythmia; RSA) would predict subsequent depressive symptoms.

Detection of Active Caspase-3 in Mouse Models of Stroke and Alzheimer's Disease with a Novel Dual Positron Emission Tomography/Fluorescent Tracer [Ga]Ga-TC3-OGDOTA.

Apoptosis is a feature of stroke and Alzheimer's disease (AD), yet there is no accepted method to detect or follow apoptosis in the brain in vivo. We developed a bifunctional tracer [Ga]Ga-TC3-OGDOTA containing a cell-penetrating peptide separated from fluorescent Oregon Green and Ga-bound labels by the caspase-3 recognition peptide DEVD. We hypothesized that this design would allow [Ga]Ga-TC3-OGDOTA to accumulate in apoptotic cells.

Chronic kidney disease induces left ventricular overexpression of the pro-hypertrophic microRNA-212.

Chronic kidney disease (CKD) is a public health problem that increases the risk of cardiovascular morbidity and mortality. Heart failure with preserved ejection fraction (HFpEF) characterized by left ventricular hypertrophy (LVH) and diastolic dysfunction is a common cardiovascular complication of CKD. MicroRNA-212 (miR-212) has been demonstrated previously to be a crucial regulator of pathologic LVH in pressure-overload-induced heart failure via regulating the forkhead box O3 (FOXO3)/calcineurin/nuclear factor of activated T-cells (NFAT) pathway.

Trimetazidine and parkinsonism: A prospective study.

Background: Although trimetazidine may induce parkinsonian symptoms in some patients, no systematic characterization has been reported on parkinsonism occurring during trimetazidine treatment since the first case reports.

Objective: To systematically investigate parkinsonism occurring during trimetazidine use.

Methods: Thirty-three consecutive patients on trimetazidine treatment with previously unrecognized parkinsonian symptoms were enrolled.

Mechanisms and Modulation of Oxidative/Nitrative Stress in Type 4 Cardio-Renal Syndrome and Renal Sarcopenia.

Chronic kidney disease (CKD) is a public health problem and a recognized risk factor for cardiovascular diseases (CVD). CKD could amplify the progression of chronic heart failure leading to the development of type 4 cardio-renal syndrome (T4CRS). The severity and persistence of heart failure are strongly associated with mortality risk in T4CRS.

Dose and Exposure Time-Dependent Renal and Hepatic Effects of Intraperitoneally Administered Fumonisin B₁ in Rats.

Male Wistar rats were treated intraperitoneally (i.p.) with fumonisin B₁ (FB₁; 0, 20, 50 and 100 mg/kg dietary dose equivalent) for 5 and 10 days ( = 24⁻24 in each setting) to gain dose- and time-dependent effects on antioxidant status and oxidative stress response, clinical chemical endpoints and liver, kidney and lung histopathology and lymphocyte damage (genotoxicity).

Comparing Sensitivity and Specificity of Addenbrooke's Cognitive Examination-I, III and Mini-Addenbrooke's Cognitive Examination in Parkinson's Disease.

Background: Parkinson's disease (PD) is the second most common neurodegenerative disorder characterized by numerous motor and nonmotor symptoms. Neurocognitive disorders (NCD) are one of the most troublesome problems and their diagnosis is often challenging.

Methods: We compared the sensitivity and specificity of several versions of Addenbrooke Cognitive Examination (ACE, ACE-III, and Mini-ACE) on 552 subjects with PD.

Interaction between the three frequently co-occurring Fusarium mycotoxins in rats.

To test the complex, acute biochemical effects of combined, naturally co-occurring fusariotoxins, a 5-day rat study was performed. Mycotoxin treatment was invented by intraperitoneal injection: FB (F): 9 µg/animal/day (approx. 30 µg/kg bw/day), DON (D): 16.

Serial imaging after pulmonary embolism and correlation with functional limitation at 12 months: Results of the ELOPE Study.

Introduction: Risk factors for exercise limitation after acute pulmonary embolism (PE) are unknown. As a planned sub-study of the prospective, multicenter ELOPE (Evaluation of Long-term Outcomes after PE) Study, we aimed to describe the results of serial imaging by computed tomography pulmonary angiography (CTPA) and perfusion scan during 1 year after a first episode of acute pulmonary embolism, and to assess the association between imaging parameters and exercise limitation at 1 year.

Methods: In a prospective cohort study, 100 patients were recruited between June 2010 and February 2013 at five Canadian university-affiliated hospitals.

Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.

Most expression quantitative trait locus (eQTL) studies to date have been performed in heterogeneous tissues as opposed to specific cell types. To better understand the cell-type-specific regulatory landscape of human melanocytes, which give rise to melanoma but account for <5% of typical human skin biopsies, we performed an eQTL analysis in primary melanocyte cultures from 106 newborn males. We identified 597,335 -eQTL SNPs prior to linkage disequilibrium (LD) pruning and 4997 eGenes (FDR < 0.