A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.

Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. DBA is related to defective ribosome biogenesis, which impairs erythropoiesis, causing hyporegenerative macrocytic anemia. The disease has an autosomal dominant inheritance and is commonly diagnosed in the first year of life, requiring continuous treatment.

The Sodium-Glucose Co-Transporter 2 (SGLT2) Inhibitor Empagliflozin Reverses Hyperglycemia-Induced Monocyte and Endothelial Dysfunction Primarily through Glucose Transport-Independent but Redox-Dependent Mechanisms.

Purpose: Hyperglycaemia-induced oxidative stress and inflammation contribute to vascular cell dysfunction and subsequent cardiovascular events in T2DM. Selective sodium-glucose co-transporter-2 (SGLT-2) inhibitor empagliflozin significantly improves cardiovascular mortality in T2DM patients (EMPA-REG trial). Since SGLT-2 is known to be expressed on cells other than the kidney cells, we investigated the potential ability of empagliflozin to regulate glucose transport and alleviate hyperglycaemia-induced dysfunction of these cells.

Pharmacological Targeting of the RAGE-NFκB Signalling Axis Impedes Monocyte Activation under Diabetic Conditions through the Repression of SHP-2 Tyrosine Phosphatase Function.

Monocytes play a vital role in the development of cardiovascular diseases. Type 2 diabetes mellitus (T2DM) is a major CVD risk factor, and T2DM-induced aberrant activation and enhanced migration of monocytes is a vital pathomechanism that leads to atherogenesis. We recently reported the upregulation of SHP-2 phosphatase expression in mediating the VEGF resistance of T2DM patient-derived monocytes or methylglyoxal- (MG, a glucose metabolite and advanced glycation end product (AGE) precursor) treated monocytes.

Influence of Acceptance and Commitment Therapy Core Processes on Anxiety and Stress in Persons With Spinal Cord Injury: A Cross-sectional Study.

Objective: To explore the relationship between the core Acceptance and Commitment Therapy (ACT) processes (mindfulness, self as context, acceptance, defusion, values, and committed action) and anxiety and stress in a sample of individuals with spinal cord injury (SCI).

Design: Variance accounted for by ACT on anxiety and stress as outcome variables was examined using multiple linear regression.

Setting: Study measures were completed via online survey.

Assessment-related anxiety among older adults: associations with neuropsychological test performance.

Anxiety disrupts test performance across academic/testing contexts; however, the impact of anxiety on neuropsychological testing has been examined less frequently among older adults, despite clinical observations of high anxiety and dementia worry among elderly individuals in assessment contexts. The present study examined the impact of trait, state, and test anxiety on measures of processing speed, working memory, verbal memory, and aspects of executive functioning (i.e.

Cost-effectiveness of noninvasive telemedical interventional management in patients with heart failure: health economic analysis of the TIM-HF2 trial.

Background: Noninvasive remote patient management (RPM) in patients with heart failure (HF) has been shown to reduce the days lost due to unplanned cardiovascular hospital admissions and all-cause mortality in the Telemedical Interventional Management in Heart Failure II trial (TIM-HF2). The health economic implications of these findings are the focus of the present analyses from the payer perspective.

Methods And Results: A total of 1538 participants of the TIM-HF2 randomized controlled trial were assigned to the RPM and Usual Care group.

Trained immunity as a novel approach against COVID-19 with a focus on Bacillus Calmette-Guérin vaccine: mechanisms, challenges and perspectives.

COVID-19 is a severe health problem in many countries and has altered day-to-day life in the whole world. This infection is caused by the SARS-CoV-2 virus, and depending on age, sex and health status of the patient, it can present with variety of clinical symptoms such as mild infection, a very severe form or even asymptomatic course of the disease. Similarly to other viruses, innate immune response plays a vital role in protection against COVID-19.

Assessment-related anxiety among older adults: development of a measure.

Older adults are the largest population seeking neuropsychological assessment services. Anxiety has been shown to impact test scores, yet no anxiety measure currently exists specific to older adult neuropsychological assessment. This study piloted and validated the Feelings About Neuropsychological Testing measure (FANT), a measure of neuropsychological assessment anxiety developed to measure the cognitive, affective, and physiological aspects of test and state anxiety.

Hyperglycaemia-induced methylglyoxal accumulation potentiates VEGF resistance of diabetic monocytes through the aberrant activation of tyrosine phosphatase SHP-2/SRC kinase signalling axis.

Diabetes mellitus (DM) is a major cardiovascular risk factor contributing to cardiovascular complications by inducing vascular cell dysfunction. Monocyte dysfunction could contribute to impaired arteriogenesis response in DM patients. DM monocytes show blunted chemotactic responses to arteriogenic stimuli, a condition termed as vascular endothelial growth factor (VEGF) resistance.

Extra-vascular findings in patients undergoing magnetic resonance angiography of the abdomen, pelvis and lower extremities: A retrospective study of 352 patients.

Background The aim of this study was to assess the prevalence and clinical significance of extra-vascular findings in patients undergoing magnetic resonance angiography of the abdomen, pelvis and lower extremities. Materials and methods Three hundred fifty-two patients underwent abdominal, pelvic and lower extremity 1.5 T magnetic resonance angiography.

Sex difference in appropriate shocks but not mortality during long-term follow-up in patients with implantable cardioverter-defibrillators.

Aims: Implantable cardioverter-defibrillators (ICDs) have been shown to improve survival, although a considerable number of patients never receive therapy. Implantable cardioverter-defibrillators are routinely implanted regardless of sex. There is continuing controversy whether major outcomes differ between men and women.

DEGRO/DGK guideline for radiotherapy in patients with cardiac implantable electronic devices.

An increasing number of patients undergoing radiotherapy (RT) have cardiac implantable electronic devices [CIEDs, cardiac pacemakers (PMs) and implanted cardioverters/defibrillators (ICDs)]. Ionizing radiation can cause latent and permanent damage to CIEDs, which may result in loss of function in patients with asystole or ventricular fibrillation. Reviewing the current literature, the interdisciplinary German guideline (DEGRO/DGK) was developed reflecting patient risk according to type of CIED, cardiac condition, and estimated radiation dose to the CIED.

Normal values and clinical relevance of left atrial myocardial function analysed by speckle-tracking echocardiography: multicentre study.

Aims: The aim of this multicentre study was to determine the normal range and the clinical relevance of the myocardial function of the left atrium (LA) analysed by 2D speckle-tracking echocardiography (2DSTE).

Methods And Results: We analysed 329 healthy adult subjects prospectively included in 10 centres and a validation group of 377 patients with left ventricular diastolic dysfunction (LVDD). LA myocardial function was analysed by LA strain rate peak during LA contraction (LA-SRa) and LA strain peak during LA relaxation (LA-Strain).

Potential cost-effectiveness of therapeutic drug monitoring in patients with resistant hypertension.

Background: Nonadherence to drug therapy poses a significant problem in the treatment of patients with presumed resistant hypertension. It has been shown that therapeutic drug monitoring (TDM) is a useful tool for detecting nonadherence and identifying barriers to treatment adherence, leading to effective blood pressure (BP) control. However, the cost-effectiveness of TDM in the management of resistant hypertension has not been investigated.

Vascular and extravascular findings on magnetic resonance angiography of the thoracic aorta and the origin of the great vessels.

Purpose: To investigate the presence of relevant vascular and incidental extravascular findings in patients undergoing magnetic resonance angiography (MRA) of the thoracic aorta and origin of the great vessels.

Materials And Methods: In all, 165 consecutive patients (mean age 61 ± 12 years) underwent 1.5 T MRA of the thorax.

Detection of intracardiac masses in patients with coronary artery disease using cardiac magnetic resonance imaging: a comparison with transthoracic echocardiography.

We sought to evaluate the diagnostic accuracy of contrast-enhanced cardiac magnetic resonance (CMR) imaging for the detection of intracardiac masses and thrombus formation in patients with history of coronary artery disease (CAD) in comparison to transthoracic echocardiography (TTE) under clinical routine conditions. 171 patients with history of CAD (89 male, aged 34-89 years, median 63 ± 11) underwent TTE and CMR during routine clinical examinations. TTE and CMR were independently analysed regarding the presence of intracardiac thrombus formation, masses and related size, dimensions, shape and signal characteristics.

Passive-fixation lead failure rates and long-term patient mortality in subjects implanted with Sprint Fidelis electrodes.

Aims: To evaluate passive-fixation lead failure rates and long-term patient survival in subjects implanted with Sprint Fidelis electrodes.

Methods And Results: We identified 748 subjects who received a Sprint Fidelis (n = 429; Medtronic models 6948: 94.8%, 6949: 2.

Electromagnetic interference of avalanche transceivers with cardiac pacemakers and implantable cardioverter defibrillators.

Background: Avalanche transceivers are essentials tools in locating persons who were buried by an avalanche. In the past few years, avalanche transceivers have become widely available and affordable, but it is largely unknown whether they are a source of electromagnetic interference for implanted cardiac devices. We aimed to determine the potential interaction between avalanche transceivers and pacemakers or implantable cardioverter defibrillators (ICDs).

Cost-effectiveness of paclitaxel-coated balloon angioplasty in patients with drug-eluting stent restenosis.

Background: The economic impact of drug-eluting stent (DES) in-stent restenosis (ISR) is substantial, highlighting the need for cost-effective treatment strategies.

Hypothesis: Compared to plain old balloon angioplasty (POBA) or repeat DES implantation, drug-coated balloon (DCB) angioplasty is a cost-effective therapy for DES-ISR.

Methods: A Markov state-transition model was used to compare DCB angioplasty with POBA and repeat DES implantation.

Cost-effectiveness of cardiovascular magnetic resonance and single-photon emission computed tomography for diagnosis of coronary artery disease in Germany.

Background: Recent studies have demonstrated a superior diagnostic accuracy of cardiovascular magnetic resonance (CMR) for the detection of coronary artery disease (CAD). We aimed to determine the comparative cost-effectiveness of CMR versus single-photon emission computed tomography (SPECT).

Methods: Based on Bayes' theorem, a mathematical model was developed to compare the cost-effectiveness and utility of CMR with SPECT in patients with suspected CAD.

Pulmonary vein anatomy predicts freedom from atrial fibrillation using remote magnetic navigation for circumferential pulmonary vein ablation.

Aims: Multidetector computed tomography (MDCT) is frequently used to guide circumferential pulmonary vein ablation (PVA) for treatment of atrial fibrillation (AF) as it offers accurate visualization of the left atrial (LA) and pulmonary vein (PV) anatomy. This study aimed to identify if PV anatomy is associated with outcomes following PVA using remote magnetic navigation (RMN).

Methods And Results: We analysed data from 138 consecutive patients and 146 ablation procedures referred for PVA due to drug-refractory symptomatic AF (age 63 ± 11 years; 57% men; 69% paroxysmal AF).

Left atrial volumetry from routine diagnostic work up prior to pulmonary vein ablation is a good predictor of freedom from atrial fibrillation.

Aims: This study aimed to identify whether left atrial (LA) volume assessed by multidetector computed tomography (MDCT) is related to the long-term success of pulmonary vein ablation (PVA). MDCT is used to guide PVA for the treatment of atrial fibrillation (AF). MDCT permits accurate sizing of LA dimensions.

Long-term prognostic value of restitution slope in patients with ischemic and dilated cardiomyopathies.

Background: An action potential duration (APD) restitution curve with a steep slope ≥1 has been associated with increased susceptibility for malignant ventricular arrhythmias. We aimed to evaluate the "restitution hypothesis" and tested ventricular APD restitution slope as well as effective refractory period (ERP)/APD ratio for long-term prognostic value in patients with ischemic (ICM) or dilated cardiomyopathy (DCM).

Methodology/principal Findings: Monophasic action potentials were recorded in patients with ICM (n = 32) and DCM (n = 42) undergoing routine programmed ventricular stimulation (PVS).