Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3'-end of SRCAP using CRISPR/Cas9.

Non-Floating Harbour Syndrome (FLHS) neurodevelopmental disorder (NDD) is a recently described disorder caused by mutations in certain regions of the SRCAP gene. We generated two iPSC lines that contain truncating mutation on both alleles at the 3'-end of SRCAP using CRISPR/Cas9 technology. Both cell lines are pluripotent, differentiate into the 3 germ layers and contain no genomic aberrations or off-target modifications.

Nano-Architecture of Persistent Focal DNA Damage Regions in the Minipig Epidermis Weeks after Acute γ-Irradiation.

Exposure to high acute doses of ionizing radiation (IR) can induce cutaneous radiation syndrome. Weeks after such radiation insults, keratinocyte nuclei of the epidermis exhibit persisting genomic lesions that present as focal accumulations of DNA double-strand break (DSB) damage marker proteins. Knowledge about the nanostructure of these genomic lesions is scarce.

Postirradiation temperature influences DSB repair and dicentric chromosome formation-potential impact for dicentric chromosome analysis in interlaboratory comparisons.

The objective was to investigate the influence of different pre-storage temperatures in the dicentric chromosome analysis (DCA) protocol (22°C vs. 37°C) by using γ-H2AX + 53BP1 foci as a marker for deoxyribonucleic acid (DNA) double-strand break (DSB) damage induction and repair and the formation of dicentric chromosomes as a result of mis-repair. Repair of γ-H2AX + 53BP1 DSB foci was absent in samples that were incubated for 2 h at 22°C after exposure of 0.

Evaluating transport conditions of conventional, widely used EDTA blood tubes for gene expression analysis in comparison to expensive, specialized PAXgene tubes in preparedness for radiological and nuclear events.

Purpose: Gene expression (GE) analysis of a radio-sensitive gene set () has been introduced in the last decade as an early and high-throughput prediction tool of later developing acute hematologic radiation syndrome (H-ARS) severity. The use of special tubes for RNA extraction from peripheral whole blood (PAXgene) represent an established standard in GE studies, although uncommonly used in clinics and not immediately available in the quantities needed in radiological/nuclear (R/N) incidents. On the other hand, EDTA blood tubes are widely utilized in clinical practice.

Radiation-induced double-strand breaks by internal ex vivo irradiation of lymphocytes: Validation of a Monte Carlo simulation model using GATE and Geant4-DNA.

Unlabelled: This study describes a method to validate a radiation transport model that quantifies the number of DNA double-strand breaks (DSB) produced in the lymphocyte nucleus by internal ex vivo irradiation of whole blood with the radionuclides Y, Tc, I, I, Lu, Ra, and Ac in a test vial using the GATE/Geant4 code at the macroscopic level and the Geant4-DNA code at the microscopic level.

Methods: The simulation at the macroscopic level reproduces an 8 mL cylindrical water-equivalent medium contained in a vial that mimics the geometry for internal ex vivo blood irradiation. The lymphocytes were simulated as spheres of 3.

Single chest drain is not inferior to double chest drain after robotic esophagectomy: a propensity score-matched analysis.

Background: Chest drain management has a significant influence on postoperative recovery after robot-assisted minimally invasive esophagectomy (RAMIE). The use of chest drains increases postoperative pain by irritating intercostal nerves and hinders patients from early postoperative mobilization and recovery. To our knowledge, no study has investigated the use of two vs.

Drainless robot-assisted minimally invasive oesophagectomy-randomized controlled trial (RESPECT).

Background: The purpose of this randomized trial is to evaluate the early removal of postoperative drains after robot-assisted minimally invasive oesophagectomy (RAMIE). Evidence is lacking about feasibility, associated pain, recovery, and morbidity.

Methods/design: This is a randomized controlled multicentric trial involving 72 patients undergoing RAMIE.

Fast and label-free intraoperative discrimination of malignant pancreatic tissue by attenuated total reflection infrared spectroscopy.

Significance: Pancreatic surgery is a highly demanding and routinely applied procedure for the treatment of several pancreatic lesions. The outcome of patients with malignant entities crucially depends on the margin resection status of the tumor. Frozen section analysis for intraoperative evaluation of tissue is still time consuming and laborious.

BRAF inhibitors in BRAF V600E-mutated ameloblastoma: systematic review of rare cases in the literature.

Background: Ameloblastoma in 66% of the cases harbor a somatic mutation of the "mitogen-activated protein kinase" signaling pathway (BRAF V600E). In V600E mutations, BRAF is in the permanent "on" state and relays the growth-promoting signals independently of the EGFR pathway. Therefore, mutant BRAF represents a target for handful of new drugs.

Comparison of Laser-Sintered and Milled Patient-Specific Reconstruction Plates for Complications and Outcomes in Mandibular Defects-Comparative Analysis of a Single-Center Cohort.

CAD/CAM-manufactured implants are increasingly becoming the standard in current therapy. The question of whether the manufacturing-related rougher surface of selective laser fusion plates compared to milled, smoother reconstruction plates leads to increased postoperative complications such as infections, plate exposure, and fistulas has not yet been determined. A retrospective analysis of 98 patients who underwent surgical treatment with either a selective laser fusion plate or a milled reconstruction plate at our hospital was performed.

Analysis of Single- and Double-Stranded DNA Damage in Osteoblastic Cells after Hyperbaric Oxygen Exposure.

(1) Background: Hyperbaric oxygen (HBO) exposure induces oxidative stress that may lead to DNA damage, which has been observed in human peripheral blood lymphocytes or non-human cells. Here, we investigated the impact of hyperbaric conditions on two human osteoblastic cell lines: primary human osteoblasts, HOBs, and the osteogenic tumor cell line SAOS-2. (2) Methods: Cells were exposed to HBO in an experimental hyperbaric chamber (4 ATA, 100% oxygen, 37 °C, and 4 h) or sham-exposed (1 ATA, air, 37 °C, and 4 h).

RENEB Inter-Laboratory Comparison 2021: The FISH-Based Translocation Assay.

Translocation analysis using fluorescence in situ hybridization (FISH) is the method of choice for dose assessment in case of chronic or past exposures to ionizing radiation. Although it is a widespread technique, unlike dicentrics, the number of FISH-based inter-laboratory comparisons is small. For this reason, although the current Running the European Network of Biological and Physical retrospective Dosimetry (RENEB) inter-laboratory comparison 2021 was designed as a fast response to a real emergency scenario, it was considered a good opportunity to perform an inter-laboratory comparison using the FISH technique to gain further experience.

RENEB Inter-Laboratory Comparison 2021: The Gamma-H2AX Foci Assay.

The Running the European Network of biological and retrospective dosimetry (RENEB) network of laboratories has a range of biological and physical dosimetry assays that can be deployed in the event of a radiation incident to provide exposure assessment. To maintain operational capability and provide training, RENEB runs regular inter-laboratory comparison (ILC) exercises. The RENEB ILC2021 was carried out with all the biological and physical dosimetry assays employed in the network.

Ex-vivo dose response characterization of the recently identified gene after low level radiation exposures and comparison with gene expression and the γH2AX focus assay.

Objective: Recently, promising radiation-induced EDA2R gene expression (GE) changes after low level radiation could be shown. Stimulated by that, in this study, we intended to independently validate these findings and to further characterize dose-response relationships in comparison to FDXR and the γH2AX-DNA double-strand break (DSB) focus assay, since both assays are already widely used for biodosimetry purposes.

Materials And Methods: Peripheral blood samples from six healthy human donors were irradiated ex vivo (dose: ranging from 2.

Cross-cultural, transnational or interdisciplinary? Eric Wittkower's psychosomatic medicine and transcultural psychiatry in historical context.

This article traces the career, scientific achievements, and emigration of the Berlin-born physician, psychoanalyst, and psychosomatic researcher Eric Wittkower. Trained in Berlin and practicing internal medicine, he became persecuted by the Nazi regime and, after fleeing Germany via Switzerland, continued his professional career in the United Kingdom, where he turned to psychosomatic medicine and worked in the service of the British Army during World War II. After two decades of service in the UK, Wittkower joined McGill University in Canada.

MRONJ of the Mandible-From Decortication to a Complex Jaw Reconstruction Using a CAD/CAM-Guided Bilateral Scapula Flap.

Medication-related osteonecrosis of the jaw (MRONJ) has been an integral part of the maxillofacial patient population for some time. The therapeutic concept ranges from conservative approaches over less extended decortications to major jaw resections, which can result in a considerable loss of quality of life. Based on three case reports, this paper presents the long-term history of patients with MRONJ of the mandible, whose disease ultimately resulted in partial or total mandibular resection and subsequent multisegmental reconstruction using a microvascular anastomosed bone flap.

Effect of femtosecond laser interaction with human fibroblasts: a preliminary study.

In in vitro methods and cell culture models, femtosecond (fs) laser interaction has been employed to assess its effect on the proliferation and morphology of human skin fibroblasts. We cultured a primary human skin fibroblast cell line on a glass plate, passages 17-23. The cells were irradiated with a 90-fs laser at a wavelength of 800 nm and a repetition rate of 82 MHz.

First-Hand Experience and Result with New Robot-Assisted Laser LeFort-I Osteotomy in Orthognathic Surgery: A Case Report.

Background: We report the world's first developer-independent experience with robot-assisted laser Le Fort I osteotomy (LLFO) and drill-hole marking in orthognathic surgery. To overcome the geometric limitations of conventional rotating and piezosurgical instruments for performing osteotomies, we used the stand-alone robot-assisted laser system developed by Advanced Osteotomy Tools. The aim here was to evaluate the precision of this novel procedure in comparison to the standard procedure used in our clinic using a computer-aided design/computer-aided manufacturing (CAD/CAM) cutting guide and patient-specific implant.

Selective Decontamination of the Digestive Tract in Pancreatic Head Resections-A Propensity Score-Matched Analysis.

(1) Background: The postoperative morbidity rate after pancreatic head resection remains high, partly due to infectious complications. The primary aim of this study was to analyze the influence of selective decontamination of the digestive tract (SDD) on the postoperative infection rate after pancreatic surgery. (2) Methods: From January 2019, the standard of care for patients undergoing pancreatic head resections at the Department for Visceral, Thoracic, and Vascular Surgery, University Hospital Dresden was the preoperative oral administration of SDD.

Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy.

Radiological and especially nuclear accidents and incidents pose a threat to populations. In such events, gene expression (GE) analysis of a set of 4 genes (FDXR, DDB2, POU2AF1, WNT3) is an emerging approach for early and high-throughput prediction of the later manifesting severity degrees of the hematological acute radiation syndrome (H-ARS). Validation of this gene set on radiation victims is difficult since these events are rare.

Student experiences of professionalism and role models in an oral and maxillofacial surgery internship: A qualitative study.

Introduction: Dental students have a clear concept of professionalism and the importance of role models. Our aim was to determine how dental students experience their first oral and maxillofacial surgery internship in terms of their concept of professionalism and their perception of role models.

Methods: From June to August 2020, semi-structured telephone interviews were conducted with 22 dental students in their eighth and ninth semesters at the Medical Faculty of the University of Ulm.

Robotic Esophagectomy Compared With Open Esophagectomy Reduces Sarcopenia within the First Postoperative Year: A Propensity Score-Matched Analysis.

Introduction: Sarcopenia is a known risk factor for adverse outcomes after esophageal cancer (EC) surgery. Robot-assisted minimally invasive esophagectomy (RAMIE) offers numerous advantages, including reduced morbidity and mortality. However, no evidence exists to date comparing the development of sarcopenia after RAMIE and open esophagectomy (OE).

Adverse childhood experiences growing up in East or West Germany or abroad.

Background: Adverse childhood experiences (ACEs) are potentially traumatic events that occur before the age of 18. The term encompasses various adverse childhood experiences, e.g.

Trial of Antisense Oligonucleotide Tofersen for ALS.

Background: The intrathecally administered antisense oligonucleotide tofersen reduces synthesis of the superoxide dismutase 1 (SOD1) protein and is being studied in patients with amyotrophic lateral sclerosis (ALS) associated with mutations in ( ALS).

Methods: In this phase 3 trial, we randomly assigned adults with ALS in a 2:1 ratio to receive eight doses of tofersen (100 mg) or placebo over a period of 24 weeks. The primary end point was the change from baseline to week 28 in the total score on the ALS Functional Rating Scale-Revised (ALSFRS-R; range, 0 to 48, with higher scores indicating better function) among participants predicted to have faster-progressing disease.

Neurogenic Thoracic Outlet Syndrome.

Background: Thoracic outlet syndrome (TOS) refers to a group of disorders in which there is compression of and/or damage to the neurovascular structures at the thoracic outlet, i.e., at the transition from chest to neck.