Pain in idiopathic scoliosis not associated with known genetic variants for pain.

Introduction: Back pain is common in idiopathic scoliosis. The aim of this study was to study known genetic variants associated with pain in individuals with idiopathic scoliosis.

Methods: We included 1442 individuals with juvenile or adolescent idiopathic scoliosis from Sweden and Denmark.

Orthopteran Neo-Sex Chromosomes Reveal Dynamics of Recombination Suppression and Evolution of Supergenes.

The early evolution of sex chromosomes has remained obscure for more than a century. The Vandiemenella viatica species group of morabine grasshoppers is highly suited for studying the early stages of sex chromosome divergence and degeneration of the Y chromosome. This stems from the fact that neo-XY sex chromosomes have independently evolved multiple times by X-autosome fusions with different autosomes.

Chromosome-level genome assembly of the morabine grasshopper Vandiemenella viatica19.

Morabine grasshoppers in the Vandiemenella viatica species group, which show karyotype diversity, have been studied for their ecological distribution and speciation in relation to their genetic and chromosomal diversity. They are good models for studying sex chromosome evolution as "old" and newly emerged sex chromosomes co-exist within the group. Here we present a reference genome for the viatica19 chromosomal race, that possesses the ancestral karyotype within the group.

Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults.

Reading skills and developmental dyslexia, characterized by difficulties in developing reading skills, have been associated with brain anomalies within the language network. Genetic factors contribute to developmental dyslexia risk, but the mechanisms by which these genes influence reading skills remain unclear. In this preregistered study (https://osf.

Association of genetic variation in with adolescent idiopathic scoliosis.

Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than fivefold greater risk of severe disease compared to boys. Despite its medical impact, the molecular mechanisms that drive AIS are largely unknown. We previously defined a female-specific AIS genetic risk locus in an enhancer near the gene.

A cross-sectional study of sensory-motor neuropsychological function among sewage plant and sewage net workers exposed to hydrogen sulphide when handling wastewater.

Objectives: Workers at sewage treatment plants are exposed to a complex mixture of toxins, including hydrogen sulphide (H2S). An issue of concern among sewage workers, is possible negative nervous system effects from low-level H2S exposure. Empirical neuropsychological evidence indicates both that low-dose exposure to H2S exposure affects the nervous system, and the contrary, that such exposure may facilitate nervous system function, since H2S is an endogenously produced central nervous system (CNS) gasotransmitter.

Long-chain polyphosphates inhibit type I interferon signaling and augment LPS-induced cytokine secretion in human leukocytes.

Inorganic polyphosphates are evolutionarily conserved bioactive phosphate polymers found as various chain lengths in all living organisms. In mammals, polyphosphates play a vital role in the regulation of cellular metabolism, coagulation, and inflammation. Long-chain polyphosphates are found along with endotoxins in pathogenic gram-negative bacteria and can participate in bacterial virulence.

Human endometrial cell-type-specific RNA sequencing provides new insights into the embryo-endometrium interplay.

Study Question: Which genes regulate receptivity in the epithelial and stromal cellular compartments of the human endometrium, and which molecules are interacting in the implantation process between the blastocyst and the endometrial cells?

Summary Answer: A set of receptivity-specific genes in the endometrial epithelial and stromal cells was identified, and the role of galectins (LGALS1 and LGALS3), integrin β1 (ITGB1), basigin (BSG) and osteopontin (SPP1) in embryo-endometrium dialogue among many other protein-protein interactions were highlighted.

What Is Known Already: The molecular dialogue taking place between the human embryo and the endometrium is poorly understood due to ethical and technical reasons, leaving human embryo implantation mostly uncharted.

Study Design Size Duration: Paired pre-receptive and receptive phase endometrial tissue samples from 16 healthy women were used for RNA sequencing.

Idiopathic scoliosis: a systematic review and meta-analysis of heritability.

Purpose: Idiopathic scoliosis is the most common spinal deformity and affects 1-3% of children and adolescents. Idiopathic scoliosis may run in families and the purpose of this systematic review was to describe the degree of heritability.

Methods: We searched Medline, Web of Science and EMBASE for family and twin studies reporting heritability estimates for idiopathic scoliosis, or studies from which heritability estimates could be calculated.

Viral infection-related gene upregulation in monocytes in children with signs of β-cell autoimmunity.

Objective: The pathogenesis of type 1 diabetes (T1D) is associated with genetic predisposition and immunological changes during presymptomatic disease. Differences in immune cell subset numbers and phenotypes between T1D patients and healthy controls have been described; however, the role and function of these changes in the pathogenesis is still unclear. Here we aimed to analyze the transcriptomic landscapes of peripheral blood mononuclear cells (PBMCs) during presymptomatic disease.

Detailed Multiplex Analysis of SARS-CoV-2 Specific Antibodies in COVID-19 Disease.

A detailed understanding of the antibody response against SARS-CoV-2 is of high importance, especially with the emergence of novel vaccines. A multiplex-based assay, analyzing IgG, IgM, and IgA antibodies against the receptor binding domain (RBD), spike 1 (S1), and nucleocapsid proteins of the SARS-CoV-2 virus was set up. The multiplex-based analysis was calibrated against the Elecsys Anti-SARS-CoV-2 assay on a Roche Cobas instrument, using positive and negative samples.

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.

Background: Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues. Mutations in at least 69 genes have been implicated in PPK, but further novel candidate genes and mutations are still to be found.

Objectives: To identify mutations underlying PPK in a cohort of 64 patients.

Nasal upregulation of in dog-sensitised children with severe allergic airway disease.

Background: The clinical presentation of children sensitised to dog dander varies from asymptomatic to severe allergic airway disease, but the genetic mechanisms underlying these differences are not clear. The objective of the present study was to investigate nasal transcriptomic profiles associated with dog dander sensitisation in school children and to reveal clinical symptoms related with these profiles.

Methods: RNA was extracted from nasal epithelial cell brushings of children sensitised to dog dander and healthy controls.

Implant survival and biologic complications of implant fixed complete dental prostheses: An up to 5-year retrospective study.

Statement Of Problem: Limited information is available on the association between prosthesis-associated risk factors and biologic complications for patients with implant fixed complete dental prostheses (IFCDPs).

Purpose: The purpose of this retrospective study was to assess the implant survival and biologic complications of IFCDPs up to 5 years of follow-up.

Material And Methods: Patients who had received IFCDPs between August 1, 2009 and August 1, 2014 were identified through an electronic health record review.

Distinct whole-blood transcriptome profile of children with metabolic healthy overweight/obesity compared to metabolic unhealthy overweight/obesity.

Background: Youth populations with overweight/obesity (OW/OB) exhibit heterogeneity in cardiometabolic health phenotypes. The underlying mechanisms for those differences are still unclear. This study aimed to analyze the whole-blood transcriptome profile (RNA-seq) of children with metabolic healthy overweight/obesity (MHO) and metabolic unhealthy overweight/obesity (MUO) phenotypes.

Multi-omic studies on missense PLG variants in families with otitis media.

Otitis media (OM), a very common disease in young children, can result in hearing loss. In order to potentially replicate previously reported associations between OM and PLG, exome and Sanger sequencing, RNA-sequencing of saliva and middle ear samples, 16S rRNA sequencing, molecular modeling, and statistical analyses including transmission disequilibrium tests (TDT) were performed in a multi-ethnic cohort of 718 families and simplex cases with OM. We identified four rare PLG variants c.

Otitis media susceptibility and shifts in the head and neck microbiome due to variants.

Background: Otitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility.

Methods: We performed exome and Sanger sequencing of >1000 DNA samples from 551 multiethnic families with OM and unrelated individuals, RNA-sequencing and microbiome sequencing and analyses of swabs from the outer ear, middle ear, nasopharynx and oral cavity.

Prosthesis Survival Rates and Prosthetic Complications of Implant-Supported Fixed Dental Prostheses in Partially Edentulous Patients.

Purpose: To determine the prevalence and distribution of prosthetic complications affecting implant-supported fixed dental prostheses (ISFDPs).

Materials And Methods: Subjects previously treated with one or more ISFDP(s) were identified from an electronic health record search and recalled for comprehensive clinical examination. Past prosthesis failures and complications were identified from the patient records while any existing complications, not previously recorded, were assessed during examination.

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

Background: Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, it has been suggested that disrupted left-right asymmetry of the brain may play a role in neurodevelopmental disorders such as DD.

Peri-Implant Diseases and Biologic Complications at Implant-Supported Fixed Dental Prostheses in Partially Edentulous Patients.

Purpose: This is a single center, retrospective study to assess the prevalence of peri-implant disease and biologic complications in a cohort of partially edentulous subjects in relation to selected prosthetic factors.

Materials And Methods: Subjects previously treated with one or more implant-supported fixed dental prosthesis (ISFDPs) were recalled for a comprehensive examination. Clinical and radiographic records were taken and questionnaires were administered.

Survival rates and prosthetic complications of implant fixed complete dental prostheses: An up to 5-year retrospective study.

Statement Of Problem: Implant fixed complete dental prostheses (IFCDPs) are widely used in the rehabilitation of completely edentulous patients, yet limited information is available on the relationship between prosthetic complications and patient-associated and prosthesis-associated risk factors.

Purpose: The purpose of this retrospective study was to assess the prosthetic complication and survival rates of IFCDPs after a mean observational period of 3.5 years.