Impact of genetic test interpretation on a missense variant in Cohen syndrome.

Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B () gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.

Myeloperoxidase and N-terminal proatrial natriuretic peptide as predictors for atrial fibrillation recurrence in patients undergoing redo ablation.

Background: Atrial fibrillation (AF) is a progressively developing arrhythmia. Electroanatomic remodeling may play an important role, both in the development of the disease and in the perpetuation and thus in the recurrence of AF.

Objective: This study aimed to investigate potential biomarkers myeloperoxidase (MPO), N-terminal proatrial natriuretic peptide (NT-proANP), intercellular adhesion molecule-1, and matrix metalloproteinase-2 and their predictive value for AF recurrence in patients undergoing redo ablation.

Self-efficacy, social support and oral health-related quality of life in patients with kidney transplantation and under hemodialysis.

Background: Aim of this questionnaire-based cross-sectional study was to compare self-efficacy, social support, oral hygiene-related self-efficacy (OHRSE) and oral health-related quality of life (OHRQoL) between patients under chronic hemodialysis (HD) and patients after kidney transplantation (KTx) as well as a healthy comparison group (HC).

Methods: Patients under HD were recruited during their routine outpatient dialysis therapy, KTx patients during their maintenance appointment and HC patients during their regular dental check-up in the dental clinic. General self-efficacy, the OHRSE, social support (F-SozU-K14) and the OHRQoL (OHIP-G5) were assessed by specific validated questionnaires.

Bibliometric analysis of imaging and treatment strategies for severe tricuspid regurgitation from 2015 to 2023.

Background: Severe tricuspid regurgitation is a progressive disease with an unfavourable prognosis. In recent years there have been extraordinary gains in knowledge through both clinical and basic scientific work. We performed a bibliometric analysis on tricuspid regurgitation with a focus on imaging techniques and treatment approaches and to identify scientific milestones and emerging research trends.

A longitudinal study assessing the impact of elexacaftor/tezacaftor/ivacaftor on gut transit and function in people with cystic fibrosis using magnetic resonance imaging (MRI).

Background: Gastrointestinal (GI) symptoms in cystic fibrosis (CF) are common and disruptive. The effect of cystic fibrosis transmembrane conductance regulator (CFTR) modulators on the GI tract is not fully understood. The aim was to use magnetic resonance imaging (MRI) to determine if elexacaftor/tezacaftor/ivacaftor (ETI) changed GI function and transit.

Impact of Physical Activity in Patients With Atrial Fibrillation Undergoing Catheter Ablation: The Multicenter Randomized BE-ACTION Trial.

Background: Arrhythmia recurrence after pulmonary vein isolation (PVI) is common. We conducted a multicenter, randomized trial to determine the impact of increased physical activity on atrial fibrillation recurrence after PVI.

Methods: From 2018 to 2020, we randomly assigned 200 patients with atrial fibrillation to the ACTION or NO-ACTION group in 4 different centers in the local country of Brandenburg, Germany.

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.

Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).

Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.

Cross-cultural adaptation and validation of the CFAbd-Score for gastrointestinal symptoms in patients with cystic fibrosis.

Objective: Translating and cross-culturally adapting the CFAbd-Score, Cystic Fibrosis (CF) Abdominal Score, to use in Brazilian spoken Portuguese. The CFAbd-Score is a questionnaire for assessing CF-related abdominal symptoms and their influence on the quality of life (QoL). It comprises 28 questions on five domains: abdominal pain, bowel movements, eating and appetite, gastroesophageal reflux symptoms, and the impact of gastrointestinal (GI) symptoms on QoL.

Analyzing the Impact of the Highest Expressed Epstein-Barr Virus-Encoded microRNAs on the Host Cell Transcriptome.

The Epstein-Barr virus (EBV) has a very high prevalence (>90% in adults), establishes a lifelong latency after primary infection, and exerts an oncogenic potential. This dsDNA virus encodes for various molecules, including microRNAs (miRs), which can be detected in the latent and lytic phases with different expression levels and affect, among others, immune evasion and malignant transformation. In this study, the different EBV miRs are quantified in EBV-positive lymphomas, and the impact on the host cell transcriptome of the most abundant EBV miRs will be analyzed using comparative RNA sequencing analyses.

Procedural Outcome and 1-Year Follow-Up of Young Patients Undergoing Implantable Cardioverter-Defibrillator Implantation-Insights from the German DEVICE I+II Registry.

: The number of young patients receiving ICDs or CRT-Ds has been increasing in recent decades and understanding the key characteristics of this special population is paramount to optimized patient care. : The DEVICE I+II registry prospectively enrolled patients undergoing ICD/CRT-D implantation or revision from 50 German centers between 2007 and 2014 Data on patient characteristics, procedural outcome, adverse events, and mortality during the initial stay and 1-year follow-up were collected. All patients under the age of 45 years were identified and included in a comparative analysis with the remaining population.

Usability and accuracy of two different aortic annulus sizing software programs in patients undergoing transcatheter aortic valve replacement.

Background: Semi-automated software is essential for planning and prosthesis selection prior transcatheter aortic valve replacement (TAVR). Reliable data on the usability of software programs for planning a TAVR is missing. The aim of this study was to compare software programs 'Valve Assist 2' (GE Healthcare) and 3mensio 'Structural Heart' (Pie Medical Imaging) regarding usability and accuracy of prosthesis size selection in program-inexperienced users.

Deciphering the role of alternative splicing in neoplastic diseases for immune-oncological therapies.

Alternative splicing (AS) is an important molecular biological mechanism regulated by complex mechanisms involving a plethora of cis and trans-acting elements. Furthermore, AS is tissue specific and altered in various pathologies, including infectious, inflammatory, and neoplastic diseases. Recently developed immuno-oncological therapies include monoclonal antibodies (mAbs) and chimeric antigen receptor (CAR) T cells targeting, among others, immune checkpoint (ICP) molecules.

Palpitations in puerperium-a self-recorded smart watch ECG gives the hint to hormone-induced ventricular arrhythmia: case report.

Background: Gender-related aspects in cardiac arrhythmias have gained increasing attention, still the understanding of peripartum electrical disorders remains vague.

Case Summary: A 28-year-old woman developed palpitations and presyncopes during the post-partum period after her second pregnancy. Palpitations remained unclear until a self-recorded single-lead smartwatch ECG revealed a complete episode of a fast broad complex tachycardia (260 b.

Cluster analysis of volatile organic compounds - A pilot study in patients with severe acute decompensated heart failure.

Introduction: Acute decompensated heart failure (ADHF) is a global health problem and early detection of high-risk patients for effective treatment is important. Exhaled breath analysis and measurement of volatile organic compounds (VOCs) may be a fast and cost-effective non-invasive diagnostic and screening tool complementing measurement of cardiac biomarkers. Another technique to detect and characterize VOCs is the ion mobility spectrometry (IMS) not requiring vacuum or sample pretreatment.

The Doppler Perfusion Index of the Liver and the Underlying Duplex Sonography of Visceral Vessels-A Systematic and Comprehensive Evaluation of Reproducibility.

Prior to the curative resection of colorectal carcinoma (CRC) or pancreatic ductal adenocarcinoma (PDAC), the exclusion of hepatic metastasis using cross-sectional imaging is mandatory. The Doppler perfusion index (DPI) of the liver is a promising method for detecting occult liver metastases, but the underlying visceral duplex sonography is critically viewed in terms of its reproducibility. The aim of this study was to investigate systematically the reproducibility of the measured variables, the calculated blood flow, and the DPI.

Mitral Valve Transcatheter Edge-to-Edge Repair: 1-Year Outcomes From the MiCLASP Study.

Background: Mitral transcatheter edge-to-edge repair (M-TEER) is a guideline-recommended treatment option for patients with severe symptomatic mitral regurgitation (MR). Outcomes with the PASCAL system in a post-market setting have not been established.

Objectives: The authors report 30-day and 1-year outcomes from the MiCLASP (Transcatheter Repair of Mitral Regurgitation with Edwards PASCAL Transcatheter Valve Repair System) European post-market clinical follow-up study.

Left atrial low-voltage areas, but not volume, predict the recurrence of atrial fibrillation in repeat ablation procedures.

Introduction: Left atrial (LA) low voltage areas (LVA) are a controversial target in atrial fibrillation ablation procedures. However, LVA and LA volume are good predictors of arrhythmia recurrence in ablation-naïve patients. Their predictive value in progressively diseased pre-ablated atria is uncertain.

Scoring Abdominal Symptoms in People with Cystic Fibrosis.

(1) Background: The introduction of highly effective CFTR-modulating therapies (HEMT) has changed the course of the disease for many people with Cystic Fibrosis (pwCF). Attention previously focused on life-threatening conditions of the respiratory system has broadened, bringing the involvement of the digestive system into the clinical and scientific focus. This emphasized the need for sensitive tools to capture and quantify changes in abdominal symptoms (AS), ideally applying patient-reported outcome measures (PROMs).

272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands.

Since the publication of the 2013 European Neuromuscular Center (ENMC) diagnostic criteria for Inclusion Body Myositis (IBM), several advances have been made regarding IBM epidemiology, pathogenesis, diagnostic tools, and clinical trial readiness. Novel diagnostic tools include muscle imaging techniques such as MRI and ultrasound, and serological testing for cytosolic 5'-nucleotidase-1A antibodies. The 272nd ENMC workshop aimed to develop new diagnostic criteria, discuss clinical outcome measures and clinical trial readiness.

Outcome and microbiological findings of patients with cardiac implantable electronic device infection.

Introduction: Infections associated with cardiac implantable electronic devices (CIEDs) are a multifactorial disease that leads to increased morbidity and mortality.

Objective: The aim was to analyze patient-, disease- and treatment-related characteristics including microbiological and bacterial spectrum according to survival status and to identify risk factors for 1- and 3-year mortality in patients with local and systemic CIED infection.

Methods: In a retrospective cohort study, we analyzed data from patients with CIED-related local or systemic infection undergoing successful transvenous lead extraction (TLE).

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.

This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other conditions which might be considered a CFTR-RD, including allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling. The CFTR functional and genetic evidence in support of the condition being a CFTR-RD are discussed and guidance for reaching the diagnosis, including alternative conditions to consider and management recommendations, is provided.

Acceptance of Telemedicine by Specialists and General Practitioners in Cardiology Care: Cross-Sectional Survey Study.

Background: In the coming years, telemedicine will play a key role in health care. Especially in rural areas with weak infrastructure, telemedicine could be crucial to providing adequate and personalized medical care.

Objective: We investigated the acceptance and preferences of telemedicine among cardiologists, internists, and general practitioners.