Refining cPRA calculation to improve HLA compatibility assessment in organ transplantation: A detailed picture of the Paris waiting list.

The determination of panel reactive antibodies (cPRA) scores plays a critical role in assessing the immunological compatibility between organ transplant recipients and potential donors. Traditional cPRA methods focus on a limited number of HLA loci using physical cytotoxicity tests. However, advancements such as the Luminex single antigen (LSA) assay, which uses mean fluorescence intensity (MFI) of individualised HLA antigens for antibody evaluation, provide a foundation for a more precise assessment.

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Background: Personalized targeted therapies have transformed management of several solid tumors. Timely and accurate detection of clinically relevant genetic variants in tumor is central to the implementation of molecular targeted therapies. To facilitate precise molecular testing in solid tumors, targeted next-generation sequencing (NGS) assays have emerged as a valuable tool.

Steroids Provide Temporary Improvement of Refractory Pain Following Subarachnoid Hemorrhage.

Introduction: Evidence for optimal analgesia following subarachnoid hemorrhage (SAH) is limited. Steroid therapy for pain refractory to standard regimens is common despite lack of evidence for its efficacy. We sought to determine if steroids reduced pain or utilization of other analgesics when given for refractory headache following SAH.

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.

Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known as ATBF1, is a zinc-finger homeodomain transcription factor involved in multiple biological processes including cell differentiation and tumorigenesis.

Implementation of Upper Extremity Trauma Registry: A Pilot Study.

Background: Hand traumas are common in young men and their complications can have negative effects on their occupation and economic activities. On the other hand, most of the hand injuries are related to occupation accidents and thus necessitates preventive measures. The goal of a clinical registry is assisting epidemiologic surveys, quality improvement preventions.

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.

The challenges and ambiguities in providing an accurate diagnosis for patients with neurodevelopmental disorders have led researchers to apply epigenetics as a technique to validate the diagnosis provided based on the clinical examination and genetic testing results. Genome-wide DNA methylation analysis has recently been adapted for clinical testing of patients with genetic neurodevelopmental disorders. In this paper, preliminary data demonstrating a DNA methylation signature for Renpenning syndrome (RENS1 - OMIM 309500), which is an X-linked recessive neurodevelopmental disorder caused by variants in polyglutamine-binding protein 1 (PQBP1) is reported.

Emotional Schemas and Psychological Distress: Mediating Role of Resilience and Cognitive Flexibility.

This study aimed to explore the structural relation of emotional schemas with psychological distress and evaluate the mediating role of resilience and cognitive flexibility in this relationship. Participants were 300 students that voluntarily completed a questionnaire package that included the Leahy Emotional Schema Scale (LESS-P), Connor-Davidson Resilience Scale (CD-RISC), Cognitive Flexibility Inventory (CFI), and Depression Anxiety Stress Scale (DASS-21). Then, we utilized the LISREL software for structural equation modeling.

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.

Since the identification of and exon 12 mutations as driver mutations in polycythemia vera (PV) in 2005, molecular testing of these mutations for patients with erythrocytosis has become a routine clinical practice. However, the incidence of myeloid mutations other than the common mutation in unselected patients referred for elevated hemoglobin is not well studied. This study aimed to characterize the mutational landscape in a real-world population of patients referred for erythrocytosis using a targeted next-generation sequencing (NGS)-based assay.

Single-Cell Chromatin Accessibility Data Combined with GWAS Improves Detection of Relevant Cell Types in 59 Complex Phenotypes.

Several disease risk variants reside on non-coding regions of DNA, particularly in open chromatin regions of specific cell types. Identifying the cell types relevant to complex traits through the integration of chromatin accessibility data and genome-wide association studies (GWAS) data can help to elucidate the mechanisms of these traits. In this study, we created a collection of associations between the combinations of chromatin accessibility data (bulk and single-cell) with an array of 201 complex phenotypes.

Conformational fingerprinting of allosteric modulators in metabotropic glutamate receptor 2.

Activation of G protein-coupled receptors (GPCRs) is an allosteric process. It involves conformational coupling between the orthosteric ligand binding site and the G protein binding site. Factors that bind at non-cognate ligand binding sites to alter the allosteric activation process are classified as allosteric modulators and represent a promising class of therapeutics with distinct modes of binding and action.

Personality traits and college students' internet addiction: The mediating roles of general health and self-esteem.

This research aimed to explore the gender-related differences in Internet addiction levels, the associated factors behind Internet addiction, and the mediating roles of general health and self-esteem in the relationship between personality traits and Internet addiction among college students. A total of 318 college students in Iran participating in this study completed sociodemographic information form and self-report measures of Internet addiction, personality traits, general health, and self-esteem. The results showed higher frequencies of low and moderate-severe levels of addiction among female and male students, respectively.

Heart Rate Variability May Predict the Severity of Appendicitis: A Cross-Sectional Study.

Objective: To evaluate the role of heart rate variability (HRV) in predicting pre-operative severity of appendicitis.

Methods: In this cross-sectional study, 171 cases of acute appendicitis who underwent appendectomy were enrolled. Pre-anesthetic pulse rate of included patients were documented while the severity of appendicitis was determined by intra-operative evidences reported by two independent surgeons.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Purpose: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants.

Methods: Individuals with protein altering variants in SOX11 were identified through exome and genome sequencing and international data sharing. Deep clinical phenotyping was undertaken by referring clinicians.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes.

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711.

Exploring Biological Impacts of Prenatal Nutrition and Selection for Residual Feed Intake on Beef Cattle Using Omics Technologies: A Review.

Approximately 70% of the cost of beef production is impacted by dietary intake. Maximizing production efficiency of beef cattle requires not only genetic selection to maximize feed efficiency (i.e.

Use of heart rate variability to predict hospital length of stay for COVID-19 patients: A prospective observational study.

Background: As the COVID-19 pandemic continues, determining hospital demands has become a vital priority. Heart rate variability (HRV) has been linked to both the presence of viral infection and its severity. We investigate the possibility of using HRV parameters in comparison to other clinical parameters for predicting the hospital length of stay (LOS) for COVID-19 patients.

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Background: Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygous variants in lysine methyltransferase 2B (KMT2B), encoding a histone H3 methyltransferase, have been associated with a childhood-onset, progressive and complex form of dystonia (dystonia 28, DYT28). Since 2016, more than one hundred rare KMT2B variants have been reported, including frameshift, nonsense, splice site, missense and other in-frame changes, many having an uncertain clinical impact.

Isolated Congenital Absence of Right Lower Lateral Cartilage and Reconstruction with Septal Cartilage: A Case Report and Review of Literature.

Congenital anomalies of the nose are rare but may be associated with syndromes affecting craniofacial structures. Herein, we report a case of a congenital absence of lower lateral cartilage seen during an open rhinoplasty in a 23-yr-old lady with no underlying health conditions. Medical and surgical history were unremarkable and there were no evidences conducted of any previous traumatic facial injuries.

The Role of Recombinant Fibroblast Growth Factor 1 in Enhancing the Angiogenesis in Random Cutaneous Flaps in Animal Model of Rat.

Background: Randomized skin flaps have been used as a basic treatment modality for covering skin defects for a long time but they have always been in the risk of an inherent ischemia. Fibroblast growth factor 1 is a known angiogenic factor in in vitro studies which has shown conflicting results in in vivo investigation. We aimed to determine the effect of recombinant fibroblast growth factor on the angiogenesis rate of random cutaneous flap in animal model of rats.