Ten-Year Outcomes and Predictors of Mortality Following Catheter Ablation of Ventricular Tachycardia.

Background: Catheter ablation is the primary treatment option for idiopathic ventricular tachycardia (VT). It plays a key role in acute therapy of electrical storm, treatment of VTs in patients with structural heart disease (SHD), and can reduce VT burden. Here we report on 10-year clinical outcomes following VT ablation from patients enrolled in the prospective German Ablation Registry.

Clinical experience on switching trientine tetrahydrochloride to trientine dihydrochloride in Wilson disease patients.

This study evaluates the effectiveness and safety of trientine dihydrochloride (TETA 2-HCl) in patients with Wilson disease (WD) following a switch from trientine tetrahydrochloride (TETA 4-HCl). A total of 30 WD patients with stable copper metabolism were identified for treatment with TETA 2-HCl (Cufence™) after prior use of TETA 4-HCl (Cuprior™). Biochemical markers including urinary copper, non-ceruloplasmin bound copper (NCC) and liver function were analyzed at baseline and followed up over 12 months.

Deciphering Popliteal Artery Aneurysm Patient Diversity: Insights From a Cluster Analysis of the POPART Registry.

Background: Popliteal artery aneurysms (PAAs) are the most common peripheral aneurysm. However, due to its rarity, the cumulative body of evidence regarding patient patterns, treatment strategies, and perioperative outcomes is limited. This analysis aims to investigate distinct phenotypical patient profiles and associated treatment and outcomes in patients with a PAA by performing an unsupervised clustering analysis of the POPART (Practice of Popliteal Artery Aneurysm Repair and Therapy) registry.

Liquid biopsy-based early tumor and minimal residual disease detection.

Genetic predisposition is one of the major measurable cancer risk factors. Affected patients have an enhanced risk for cancer and require life-long surveillance. However, current screening measures are mostly invasive and only available for certain tumor types.

Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders.

Long-chain fatty acid oxidation disorders (lcFAODs) are associated with a high disease burden due to both the risk of metabolic decompensation as well as chronic, partly irreversible complications in some. Little research has been performed on the impact of these disorders on the daily life of parents and caregivers. We performed a web-based questionnaire study among parents/caregivers of patients affected with lcFAODs.

-induced acute liver injury: A case report.

Drug-induced liver injury became one of the most important liver disorders and diagnostic challenge for clinicians and pathologists. Here, we report a rare case of -induced acute liver injury. The patient developed jaundice 2 weeks after starting intake and recovered within 5 months after withdrawal without any specific treatment.

Concurrent light chain amyloidosis and proximal tubulopathy: Insights into different aggregation behavior-A case report.

Due to differences in the protein folding mechanisms, it is exceedingly rare for amyloid light chain (AL) amyloidosis and monoclonal gammopathy of renal significance (MGRS) to coexist. We herein report the first case of concurrent AL amyloidosis and a subclass of MGRS, light chain proximal tubulopathy (LCPT). The 53-year-old female was diagnosed with smoldering myeloma immunoglobulin G and AL amyloidosis with deposits in fat and gastrointestinal tissue.

Prediction Model for Contractile Function of Circulatory Death Donor Hearts Based on Microvascular Flow Shifts During Ex Situ Hypothermic Cardioplegic Machine Perfusion.

Background Hearts procured from circulatory death donors (DCD) are predominantly maintained by machine perfusion (MP) with normothermic donor blood. Currently, DCD heart function is evaluated by lactate and visual inspection. We have shown that MP with the cardioplegic, crystalloid Custodiol-N solution is superior to blood perfusion to maintain porcine DCD hearts.

Outcome of Extended Right Lobe Liver Transplantations.

Split-liver transplantation offers a solution to the organ shortage problem. However, the outcomes of extended right lobe liver transplantation (ERLT) and whether it is a suitable alternative to full-size liver transplantation (FSLT) remain controversial. We compared the outcomes of ERLT and FSLT in adult recipients of 43,409 first deceased donor liver transplantations using Cox regression.

Early Everolimus-Facilitated Reduced Tacrolimus in Liver Transplantation: Results From the Randomized HEPHAISTOS Trial.

Everolimus-facilitated reduced-exposure tacrolimus (EVR + rTAC) at 30 days after liver transplantation (LT) has shown advantages in renal preservation. This study evaluated the effects of early initiation of EVR + rTAC in de novo LT recipients (LTRs). In HEPHAISTOS (NCT01551212, EudraCT 2011-003118-17), a 12-month, multicenter, controlled study, LTRs were randomly assigned at 7 to 21 days after LT to receive EVR + rTAC or standard-exposure tacrolimus (sTAC) with steroids.

Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.

Maple syrup urine disease (MSUD) is a rare inborn metabolic disorder, managed with a strict protein-restricted diet. At any time or age patients may still experience metabolic decompensations, requiring administration of branched chain amino acid (BCAA)-free formula to reduce leucine levels. This retrospective observational study of 126 decompensation episodes from 54 MSUD patients treated at five centers in France and Germany from 2010 to 2016, describes episodes and outcomes for patients stratified into groups who received enteral/oral or intravenous (IV) BCAA-free formula, and by pediatric or adult age categories.

Exploring Interrater Disagreement on Essential Tremor Using a Standardized Tremor Elements Assessment.

Background: Patients with upper limb action tremor frequently exhibit additional neurological signs of uncertain significance. Clinicians vary in their interpretation, and interrater agreement on the final diagnosis is poor.

Objectives: A new clinical tool for assessing the presence or absence of clinical signs that are important in axis-1 classification of tremor patients is introduced: the Standardized Tremor Elements Assessment (STEA).

Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.

Background: Progress in genetics - particularly the advent of next-generation sequencing (NGS) - has enabled an unparalleled gene discovery and revealed unmatched complexity of genotype-phenotype correlations in movement disorders. Among other things, it has emerged that mutations in one and the same gene can cause multiple, often markedly different phenotypes. Consequently, movement disorder specialists have increasingly experienced challenges in clinicogenetic correlations.

Impact of Psoriasis on Mortality Rate and Outcome in Myocardial Infarction.

Background Psoriasis is a frequent chronic inflammatory cytokine-mediated skin disease and was identified to be an independent risk factor for the occurrence of myocardial infarction (MI). However, data about the impact of psoriasis on mortality and other in-hospital adverse events in the setting of MI are sparse and inconsistent. Methods and Results The nationwide German inpatient sample of the years 2005 to 2016 was used for statistical analysis.

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Background: Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs.

Objective: This study seeks for the first time to genotype and biochemically characterize patients diagnosed with hyperphenylalaninemia (HPA) at the Pediatric Metabolic Genetics Clinic at the King Hussein Medical Center, Amman, Jordan.

Methods: A total of 33 patients with HPA and 55 family members were investigated for pterins (neopterin and biopterin) and dihydropteridine reductase (DHPR) activity in dried blood spots.