Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.

Desmoplakin (DSP) is a desmosomal component expressed in skin and heart, essential for desmosome stability and intermediate filament connection. Pathogenic variants in the DSP gene encoding DSP, lead to heterogeneous skin, adnexa and heart-related phenotypes, including skin fragility, woolly hair (WH), palmoplantar keratoderma (PPK) and arrhythmogenic/dilated cardiomyopathy (ACM/DCM). The ambiguity of computer-based prediction analysis of pathogenicity and effect of DSP variants, indicates a necessity for functional analysis.

Correlation between Preoperative MRI Parameters and Oswestry Disability Index in Patients with Lumbar Spinal Stenosis: A Retrospective Study.

: Lumbar spinal stenosis (LSS) is a degenerative condition posing significant challenges in clinical management. Despite the use of radiological parameters and patient-reported outcome measures like the Oswestry Disability Index (ODI) for evaluation, there is limited understanding of their interrelationship. This study aimed to investigate the correlation between preoperative MRI parameters and ODI scores in patients with LSS undergoing surgical treatment.

Cohort study on the relationship between morphologic parameters of paravertebral muscles, BMI and lumbar lordosis on the severity of lumbar stenosis.

Introduction: There is a growing body of literature separately linking lumbar spinal stenosis (LSS) with various factors such as paravertebral muscle (PVM) impaired function/morphology, lordosis or BMI. However, their interplay is yet to be known. The present study aims to investigate the relationship between PVM morphology, BMI and lumbar lordosis in a population with a surgical indication for LSS.

Validation of the Spanish version of the Neal, Griffin and Hart safety behavior scale.

. The safety behavior scale (SBS), developed by Neal, Griffin and Hart, is one of the most widely used conceptualizations in the field of occupational safety. Previous studies have evaluated the psychometric properties of this scale in different populations.

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

Genetic variants in gene-encoding proteins involved in cell−cell connecting structures, such as desmosomes and gap junctions, may cause a skin and/or cardiac phenotype, of which the combination is called cardiocutaneous syndrome. The cardiac phenotype is characterized by cardiomyopathy and/or arrhythmias, while the skin particularly displays phenotypes such as keratoderma, hair abnormalities and skin fragility. The reported variants associated with cardiocutaneous syndrome, in genes DSP, JUP, DSC2, KLHL24, GJA1, are classified by interpretation guidelines from the American College of Medical Genetics and Genomics.

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.

Desmoplakin (DP) is an important component of desmosomes, essential in cell-cell connecting structures in stress-bearing tissues. Over the years, many hundreds of pathogenic variants in DSP have been associated with different cutaneous and cardiac phenotypes or a combination, known as a cardiocutaneous syndrome. Of less than 5% of the reported DSP variants, the effect on the protein has been investigated.

Effects of the COVID-19 pandemic on the mental health of seafarers: A comparison using matched samples.

The COVID-19 pandemic and the measures implemented to curb its transmission have altered workplaces and challenged occupational health and safety in unprecedented ways, with high levels of mental distress reported across several industries. In the maritime industry, occupational health and safety risks, including psychosocial risks, were a concern already before the COVID-19 pandemic. However, knowledge about the prevalence of mental health problems and the factors associated with them is still limited.

Impact of the Difluoromethylene Group in the Organocatalyzed Acylative Kinetic Resolution of α,α-Difluorohydrins.

Due to the omnipresence of chiral organofluorine compounds in pharmaceutical, agrochemical, and material chemistry, the development of enantioselective methods for their preparation is highly desirable. In the present study, the enantioselective organocatalyzed acylation of α,α-difluorohydrins using a commercially available chiral isothiourea is reported through a kinetic resolution (KR) process. It reveals that the difluoromethylene moiety (C(sp )F ) can serve as a directing group through electrostatic fluorine-cation interactions, greatly improving the enantioselectivity of the KR.

Effect of COVID-19 Pandemic on Orthopedic Surgery in Three Centers from Romania.

The COVID-19 pandemic has put an enormous burden on healthcare systems. As a direct consequence, many elective procedures were cancelled and available resources were relocated to emergencies and COVID-19 patients. We aimed to analyze the impact on orthopedic surgery in Romania.

WITHDRAWN: What does safety commitment mean to leaders? A multi-method investigation.

The Publisher regrets that this article is an accidental duplication of an article that has already been published in Journal of Safety Research, 68 (2019) 203-214, https://doi.org/10.1016/j.

Anti-oxidative function of follicular fluid HDL and outcomes of modified natural cycle-IVF.

High density lipoproteins (HDL) are the main cholesterol carriers in follicular fluid (FF), the natural environment of oocyte development. Additionally, HDL have critical biological functions such as anti-oxidative capacity, which have not been studied in reproduction. Therefore, this study aimed to investigate whether the anti-oxidative function of FF-HDL is associated with fertility outcomes.

The Origin of Follicular Bile Acids in the Human Ovary.

Bile acids (BAs) are present in ovarian follicular fluid (FF) and are linked to embryo development. However, information on the source of ovarian BA is scarce. Therefore, we aimed to explore local ovarian synthesis and BA transport from blood into FF.

Early Laparoscopic Ileostomy Reversal After Rectal Cancer Surgery - Technique and Outcomes.

A temporary diverting ileostomy (TDI) is performed in a significant number of patients undergoing colorectal surgery. The best timing for ileostomy reversal (IR), early or late after its formation and the proper technique used for its closure are controversial.The objective of the present study is to describe the particular aspects of the laparoscopic technique of ileostomy reversal and to analyze the outcomes of its early closure.

What does safety commitment mean to leaders? A multi-method investigation.

Introduction: Perceived management safety commitment as an aspect of safety climate or culture is a key influence on safety outcomes in organizations. What is unclear is how perceptions of management commitment are created by leaders.

Method: To address this gap in the literature, we position safety commitment as a leadership construct viewed from the perspectives of the leaders who experience and demonstrate it.

Poor work design begets poor work design: Capacity and willingness antecedents of individual work design behavior.

Few studies have systematically considered how individuals design work. In a replication study ( = 211, Study 1), we showed that students naturally tend to develop simplified, low variety work. In 2 further simulation studies, we quantitatively assessed participants' work design behaviors via 2 new measures ("enriching task allocation" and "enriching work strategy selection").

Differential miRNA Expression Profiles in Cumulus and Mural Granulosa Cells from Human Pre-ovulatory Follicles.

Background: Mural Granulosa Cells (MGCs) and Cumulus Cells (CCs) are two specialized cell types that differentiate from a common progenitor during folliculogenesis. Although these two cell types have specialized functions and gene expression profiles, little is known about their microRNA (miRNA) expression patterns.

Objective: To describe the miRNA profile of mural and cumulus granulosa cells from human preovulatory follicles.

Novel primary amine diazeniumdiolates-Chemical and biological characterization.

Hit, Lead & Candidate Discovery Diazeniumdiolates, also known as NONOates, are extensively used in biochemical, physiological, and pharmacological studies due to their ability to release nitric oxide (NO ) and/or their congeneric nitroxyl (HNO). The purpose of this work was to synthesize a series of primary amine-based diazeniumdiolates as HNO/NO donors and to determine their efficacy as anticancer and antifungal agents in vivo. The seven compounds (3a-3g) were successfully synthesized and characterized, one of which had been previously reported in the literature (3g).

Case series of patients with pathological dyaphiseal fractures from metastatic bone disease.

Introduction: Fractures on pathologic bone have major impact on life quality. The appropriate treatment is not standardized, but the current literature delineates that surgery must provide adequate stabilization for the life expectancy. We aimed to review the epidemiology, treatment outcomes and survival in our department.

The variability of vertebral body volume and pain associated with osteoporotic vertebral fractures: conservative treatment versus percutaneous transpedicular vertebroplasty.

Introduction: Osteoporotic vertebral fractures (OVF) can lead to late collapse which often causes kyphotic spinal deformity, persistent back pain, decreased lung capacity, increased fracture risk and increased mortality. The purpose of our study is to compare the efficacy and safety of vertebroplasty against conservative management of osteoporotic vertebral fractures without neurologic symptoms.

Material And Methods: A total of 66 patients with recent OVF on MRI examination were included in the study.

A Virtual Patient Representation in the Medical Rehabilitation Domain.

This paper proposes a virtual patient (VP) for the medical rehabilitation domain using the digital representation of the real life patient's matchstick skeleton. This virtual patient is used to analyze and track the recovery of the orthopedic patient with malicious posture problems. The creation of the digital patient was realized using a markerless depth camera, the Microsoft Kinect.

Utility of the pedicle subtraction osteotomy for the correction of sagittal spine imbalance.

Introduction: Pedicle substraction osteotomy (PSO) in the lumbar spine is indicated in the treatment of large sagittal deformities of the lumbar spine. Substantial complications associated with PSOs include pseudarthrosis and mechanical failure. The purpose of the present study was to assess the complications of this procedure and the causes of mechanical complications.

Laparoscopic Mesh Sacropexy for Voluminous Rectocele.

The rectocele represents a protrusion of the rectum through the rectovaginal fascia, which appears as a bulge in the posterior vaginal wall. Surgical treatment includes many procedures which can be performed by four types of approaches: transvaginal, transanal, transperineal and transabdominal.Voluminous rectocele cases are rare and often represent a surgical challenge.