Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists.

Technical aspects of the new BYCROSS atherectomy device - preliminary results after 28 patients.

Unlabelled: Purpose: Technical aspects are crucial for the planning and performing of the atherectomy to treat peripheral arterial disease. This report illustrates the use of a novel atherectomy device and investigates the feasibility, efficacy, and safety procedures involved in performing the atherectomy on 28 patients.

Materials And Methods: We performed a prospective analysis of patients who underwent an atherectomy with the BYCROSS Atherectomy device between August 2022 and September 2023 at a tertiary referral centre.

Ablation Strategies for Repeat Procedures in Atrial Fibrillation Recurrences Despite Durable Pulmonary Vein Isolation: The Prospective Randomized ASTRO AF Multicenter Trial.

Background: Ablation strategies for patients with symptomatic atrial fibrillation and isolated pulmonary veins vary and their effects on arrhythmia recurrence remain unclear. A prospective randomized German multicenter trial sought to compare 2 ablation strategies in this patient cohort.

Methods: Patients with atrial fibrillation despite durable pulmonary vein isolation were randomly assigned at 7 centers to undergo low-voltage area ablation using 3-dimensional mapping and irrigated radiofrequency current ablation (group A) or empirical left atrial appendage isolation (LAAI) using the cryoballoon followed by staged interventional left atrial appendage closure (group B).

Real world experience with the TREO device in standard EVAR: Mid-term results of 150 cases from a German Multicenter study.

The objective of the study was to analyze mid-term results of unselected patients treated with the TREO (Terumo Aortic, Florida, USA) device at six German hospital sites. A multicenter, retrospective analysis of patients treated within and outside instructions for use (IFU) from January 2017 to November 2020 was performed. Primary outcomes were technical success, mortality and endograft related complications according to IFU status.

Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.

Background:  Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms (, , , , ) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports.

A multicenter, matched case-control analysis comparing burden of illness among patients with tuberous sclerosis complex related epilepsy, generalized idiopathic epilepsy, and focal epilepsy in Germany.

Background: Depending on the underlying etiology and epilepsy type, the burden of disease for patients with seizures can vary significantly. This analysis aimed to compare direct and indirect costs and quality of life (QoL) among adults with tuberous sclerosis complex (TSC) related with epilepsy, idiopathic generalized epilepsy (IGE), and focal epilepsy (FE) in Germany.

Methods: Questionnaire responses from 92 patients with TSC and epilepsy were matched by age and gender, with responses from 92 patients with IGE and 92 patients with FE collected in independent studies.

Early identification and awareness of child abuse and neglect among physicians and teachers.

Background: Child abuse and neglect (CAN) causes enormous suffering for those affected.

Objective: The study investigated the current state of knowledge concerning the recognition of CAN and protocols for suspected cases amongst physicians and teachers.

Methods: In a pilot study conducted in Mecklenburg-Western Pomerania from May 2020 to June 2021, we invited teachers and physicians working with children to complete an online questionnaire containing mainly multiple-choice-questions.

Mass Spectrometry Reveals Molecular Effects of Citrulline Supplementation during Bone Fracture Healing in a Rat Model.

Bone fracture healing is a complex process in which specific molecular knowledge is still lacking. The citrulline-arginine-nitric oxide metabolism is one of the involved pathways, and its enrichment via citrulline supplementation can enhance fracture healing. This study investigated the molecular effects of citrulline supplementation during the different fracture healing phases in a rat model.

Effectiveness of Neuropediatric Inpatient Rehabilitation.

Aim: Inpatient rehabilitation plays an important role in treating neurological diseases in children and adolescents. However, there is a lack of current research concerning this matter. This retrospective study aims to analyze the effectiveness of neuropediatric inpatient rehabilitation, to identify influencing factors, and to examine the importance of inpatient rehabilitation programs.

Nonspecific Presentation of an Infected Aorto-Iliac Artery Stent Following Endovascular Revision and Stent Insertion.

Over the last few decades, the use of covered stent grafts became increasingly popular; as it plays a pivotal role in the management of various atherosclerotic diseases that are rising in both incidence and prevalence. Subsequently, vascular stent infections, although rare, are becoming a well-recognized complication with possibly devastating consequences, owing to the difficulties associated with its diagnosis and treatment. This has prompted significant interest in the condition regarding its pathophysiology, modifiable and non-modifiable risk factors, diagnostic and therapeutic approaches, and the possible implementation of prophylactic measures.

Effect of Hyperthermic Intraperitoneal Chemotherapy on Cytoreductive Surgery in Gastric Cancer With Synchronous Peritoneal Metastases: The Phase III GASTRIPEC-I Trial.

Purpose: In patients with peritoneal metastasis (PM) from gastric cancer (GC), chemotherapy is the treatment of choice. Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) are still being debated. This randomized, controlled, open-label, multicenter phase III trial (EudraCT 2006-006088-22; ClinicalTrials.

[Atherectomy with a Novel Device Offering Wider Options].

Catheter-based atherectomy has been discussed for some years, although the conclusions have been controversial. Recent study data did show the feasibility of multifunctional atherectomy devices for complex lesion morphologies, with moderate material use. This is then thus an alternative to bypass surgery, although a direct comparison is lacking.

ZILVERPASS Study: ZILVER PTX Stent versus Prosthetic Above-the-Knee Bypass Surgery in Femoropopliteal Lesions, 5-year Results.

Purpose: To report the 60-month safety and effectiveness results of a multicenter, prospective, randomized controlled trial comparing the ZILVER PTX paclitaxel-eluting stent to prosthetic above-the-knee bypass for the treatment of symptomatic TransAtlantic Inter-Society Consensus (TASC) C and D femoropopliteal lesions.

Materials And Methods: Patients were enrolled between October 2013 and July 2017. One of the secondary outcomes was primary patency at 60 months, defined as no evidence of binary restenosis or occlusion within the target lesion or bypass graft based on a duplex ultrasound peak systolic velocity ratio < 2.

Echocardiographic determination of right ventricular volumes and ejection fraction: Validation of a truncated cone and rhomboid pyramid formula.

Background: Echocardiographic assessment of right ventricular (RV) measurements may be challenging. The aim of this study was to develop a formula for calculation of RV volumes and function based on measurements of linear dimensions by 2-dimensional (2D) transthoracic echocardiography (TTE) in comparison to cardiovascular magnetic resonance (CMR).

Methods: 129 consecutive patients with standard TTE and RV analysis by CMR were included.

[Geriatric assessment in dentistry : A review of chewing function tests].

Due to increasing life expectancy and the associated demographic changes, more and more people are dependent on care. To identify a possible need for dental treatment, chewing function tests as assessment instruments have proven their effectiveness. In this article, the reader is given an overview of existing chewing function tests and their implementation.

Patient Selection Criteria and Procedural Standardization for Carotid Artery Stenting-A Single Center Experience.

The gold standard for the treatment of carotid artery stenosis is the carotid endarterectomy (CEA). According to current guidelines, carotid artery stenting (CAS) is an alternative. Randomized control trials (RCTs) show significantly higher rates of peri-interventional strokes after CAS compared to CEA.

ZILVERPASS Study: ZILVER PTX Stent vs. Bypass Surgery in Femoropopliteal Lesions, 3 year results and economic analysis.

Background: To report the 3-year safety and effectiveness results of a multicenter, prospective, randomized controlled trial comparing the ZILVER PTX paclitaxel-eluting stent to surgical bypass and to conduct a health economic analysis up to 3-year follow-up of the two treatment modalities.

Methods: This is a study in symptomatic TransAtlantic Inter-Society Consensus (TASC) C and D femoropopliteal lesions comparing endovascular ZILVER PTX stenting vs. surgical bypass surgery using a prosthetic graft (ClinicalTrials.