Satisfaction with a new patient education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents.

Objective: Evaluation of the participant satisfaction with a newly developed interdisciplinary, modular education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents.

Methods: The two-day program including tailored medical information, peer consultation and psychological support aimed to improve diagnosis-specific knowledge and empowerment. Post-training satisfaction was measured using an adapted ZUF-8 questionnaire, scoring from 5 (worst) to a maximum of 26 (best) for persons aged 6-17 and from 10 to 40 points for adults, including 2 open-ended questions.

An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol γ.

The replication accuracy of DNA polymerase gamma (Pol γ) is essential for mitochondrial genome integrity. Mutation of human Pol γ arginine-853 has been linked to neurological diseases. Although not a catalytic residue, Pol γ arginine-853 mutants are void of polymerase activity.

Porcine low-density lipoprotein receptor plays an important role in classical swine fever virus infection.

Several cellular factors have been reported to be required for replication of classical swine fever virus (CSFV), a member of the genus within the family . However, many steps of its replication cycle are still poorly understood. The low-density lipoprotein receptor (LDLR) is involved in cell entry and post-entry processes of different viruses including other members of the .

Using skeletal position to estimate human error rates in telemanipulator operators.

In current telerobotics and telemanipulator applications, operators must perform a wide variety of tasks, often with a high risk associated with failure. A system designed to generate data-based behavioural estimations using observed operator features could be used to reduce risks in industrial teleoperation. This paper describes a non-invasive bio-mechanical feature capture method for teleoperators used to trial novel human-error rate estimators which, in future work, are intended to improve operational safety by providing behavioural and postural feedback to the operator.

Predictors of surgical complications in boys with hypospadias: data from an internationa registry.

Background: Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their occurrence.

Methods: Data from boys with hypospadias born between 2000 and 2020 were obtained from the International Disorders of Sex Development (I-DSD) Registry. Logistic regressions, fisher's exact tests and spearman's correlation tests were performed on the data to assess associations between clinical factors and complication rates.

The Role of Poly(ADP-ribose) Polymerase 1 in Nuclear and Mitochondrial Base Excision Repair.

Poly(ADP-ribose) (PAR) Polymerase 1 (PARP-1), also known as ADP-ribosyl transferase with diphtheria toxin homology 1 (ARTD-1), is a critical player in DNA damage repair, during which it catalyzes the ADP ribosylation of self and target enzymes. While the nuclear localization of PARP-1 has been well established, recent studies also suggest its mitochondrial localization. In this review, we summarize the differences between mitochondrial and nuclear Base Excision Repair (BER) pathways, the involvement of PARP-1 in mitochondrial and nuclear BER, and its functional interplay with other BER enzymes.

Polγ coordinates DNA synthesis and proofreading to ensure mitochondrial genome integrity.

Accurate replication of mitochondrial DNA (mtDNA) by DNA polymerase γ (Polγ) is essential for maintaining cellular energy supplies, metabolism, and cell cycle control. To illustrate the structural mechanism for Polγ coordinating polymerase (pol) and exonuclease (exo) activities to ensure rapid and accurate DNA synthesis, we determined four cryo-EM structures of Polγ captured after accurate or erroneous incorporation to a resolution of 2.4-3.

Surgical therapy for complex pelvic pressure injuries: a review of outcomes for five consecutive years and a proposal for a navigator in the care pathway.

Introduction: An advanced pelvic PI is a challenging problem that requires care from multiple disciplines.

Objective: This study is a critical evaluation of wound recurrences after surgical repair, and an analysis of factors that may contribute to surgical failures. This study also provides a literature review of pelvic PIs and proposes how a navigator embedded in the wound care department could play a role in decreasing surgical failures.

Enhancement of the haemostatic effect of platelets in the presence of high normal concentrations of von Willebrand factor for critically ill patients needing platelet transfusion-a protocol for the will-plate randomised controlled trial.

Introduction: von Willebrand Factor (vWF) is a key protein mediating platelet adhesion on the surface of damaged endothelia. To the best of our knowledge, no trial exists that investigated the effect of platelet transfusion in combination with the administration of balanced vWF in severe blood loss, despite being widely used in clinical practice. The Basel Will-Plate study will investigate the impact of the timely administration of balanced vWF (1:1 vWF and FVIII) in addition to platelet transfusion on the need for blood and coagulation factor transfusion in patients admitted to the intensive care unit (ICU) who suffer from severe bleeding.

Human EXOG Possesses Strong AP Hydrolysis Activity: Implication on Mitochondrial DNA Base Excision Repair.

Most oxidative damage on mitochondrial DNA is corrected by the base excision repair (BER) pathway. However, the enzyme that catalyzes the rate-limiting reaction─deoxyribose phosphate (dRP) removal─in the multienzymatic reaction pathway has not been completely determined in mitochondria. Also unclear is how a logical order of enzymatic reactions is ensured.

Assessing tele-manipulation systems using task performance for glovebox operations.

Tele-manipulation is indispensable for the nuclear industry since teleoperated robots cancel the radiation hazard problem for the operator. The majority of the teleoperated solutions used in the nuclear industry rely on bilateral teleoperation, utilizing a variation of the 4-channel architecture, where the motion and force signals of the local and remote robots are exchanged in the communication channel. However, the performance limitation of teleoperated robots for nuclear decommissioning tasks is not clearly answered in the literature.

Distributed Neural Networks Training for Robotic Manipulation With Consensus Algorithm.

In this article, we propose an algorithm that combines actor-critic-based off-policy method with consensus-based distributed training to deal with multiagent deep reinforcement learning problems. Specifically, convergence analysis of a consensus algorithm for a type of nonlinear system with a Lyapunov method is developed, and we use this result to analyze the convergence properties of the actor training parameters and the critic training parameters in our algorithm. Through the convergence analysis, it can be verified that all agents will converge to the same optimal model as the training time goes to infinity.

Development and evaluation of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents: study protocol of Empower-DSD.

Background: Differences in sexual development (DSD) are rare diseases, which affect the chromosomal, anatomical or gonadal sex differentiation. Although patient education is recommended as essential in a holistic care approach, standardised programmes are still lacking. The present protocol describes the aims, study design and methods of the Empower-DSD project, which developed an age-adapted multidisciplinary education programme to improve the diagnosis-specific knowledge, skills and empowerment of patients and their parents.

Unexplained Gait and Balance Changes: A Case Report of Myxoma Mitigation in a Breast Reduction Patient.

In Fall 2020, a female physical therapist (PT) developed mild changes in gait, infrapatellar tendon pain, and lateral patellar tracking. As a PT in good physical condition, she did not access her employer's occupational health clinic but instead she self-treated. Two months after symptom onset and self-treatment, she was diagnosed with an intramuscular myxoma within her left vastus lateralis, the largest muscle within the quadricep.

Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.

Introduction: Genetic obesity is rare and quite challenging for pediatricians in terms of early identification. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and is found to play an important role in leptin and insulin signaling and therefore in the pathogenesis of obesity and diabetes. Microdeletions in chromosome 16p11.

Radiation Mapping and Laser Profiling Using a Robotic Manipulator.

The use of a robotic arm manipulator as a platform for coincident radiation mapping and laser profiling of radioactive sources on a flat surface is investigated in this work. A combined scanning head, integrating a micro-gamma spectrometer and Time of Flight (ToF) sensor were moved in a raster scan pattern across the surface, autonomously undertaken by the robot arm over a 600 × 260 mm survey area. A series of radioactive sources of different emission intensities were scanned in different configurations to test the accuracy and sensitivity of the system.

Radiation Tolerance Testing Methodology of Robotic Manipulator Prior to Nuclear Waste Handling.

Dramatic cost savings, safety improvements and accelerated nuclear decommissioning are all possible through the application of robotic solutions. Remotely-controlled systems with modern sensing capabilities, actuators and cutting tools have the potential for use in extremely hazardous environments, but operation in facilities used for handling radioactive material presents complex challenges for electronic components. We present a methodology and results obtained from testing in a radiation cell in which we demonstrate the operation of a robotic arm controlled using modern electronics exposed at 10 Gy/h to simulate radioactive conditions in the most hazardous nuclear waste handling facilities.

Poly(ADP-ribose) polymerase 1 regulates mitochondrial DNA repair in an NAD-dependent manner.

Mitochondrial DNA is located in organelle that house essential metabolic reactions and contains high reactive oxygen species. Therefore, mitochondrial DNA suffers more oxidative damage than its nuclear counterpart. Formation of a repair enzyme complex is beneficial to DNA repair.

Fertility education for adolescent cancer patients: Gaps in current clinical practice in Europe.

Objective: As adolescent cancer patients may suffer from infertility following treatment, fertility counselling is essential. Our aim was to explore the current situation in four European countries in terms of (I) education about the risk for infertility, (II) counselling on fertility preservation, (III) patients' knowledge on fertility, (IV) sufficiency of information and (V) uptake of cryopreservation.

Methods: In total, 113 patients (13-20 years) at 11 study centres completed a self-report questionnaire three and six months after cancer diagnosis.

The Contribution of the Left Phrenic Nerve to Innervation of the Esophagogastric Junction.

The contribution of the left phrenic nerve to innervation of the esophagogastric junction. The esophagogastric junction is part of the barrier preventing gastroesophageal reflux. We have investigated the contribution of the phrenic nerves to innervation of the esophagogastric junction in humans and piglets by dissecting 30 embalmed human specimens and 14 piglets.

Fertility-Related Wishes and Concerns of Adolescent Cancer Patients and Their Parents.

Within a multicenter European study, we explored fertility-related wishes, concerns, and decision-making of adolescent cancer patients and their parents. Patients and parents were each asked to complete a fertility-related questionnaire 3 months after initial diagnosis. In total, 113 of 142 (79.

Clinical evaluation of a small implantable cardiac monitor with a long sensing vector.

Introduction: We conducted this study to show the safety and efficacy of a new implantable cardiac monitor (ICM), the BioMonitor 2 (Biotronik SE & Co. KG; Berlin, Germany), and to describe the arrhythmia detection performance.

Methods: The BioMonitor 2 has an extended sensing vector and is implanted close to the heart.

ABHD15 regulates adipose tissue lipolysis and hepatic lipid accumulation.

Objective: Insulin suppresses adipose tissue lipolysis after a meal, playing a key role in metabolic homeostasis. This is mediated via the kinase Akt and its substrate phosphodiesterase 3B (PDE3B). Once phosphorylated and activated, PDE3B hydrolyses cAMP leading to the inactivation of cAMP-dependent protein kinase (PKA) and suppression of lipolysis.