Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod-cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes.

DIAGNOSTIC YIELD OF AN INHERITED RETINAL DISEASE GENE PANEL IN RETINOPATHY OF UNKNOWN ORIGIN.

Purpose: Evaluating the presence of class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in patients with retinopathy of unknown origin (RUO).

Methods: Multicentric retrospective study of RUO cases diagnosed between January 2012 and February 2022. General and ophthalmologic history, complete ophthalmologic examination, antiretinal antibodies, and IRD gene panel results were analyzed in every patient.

A 22-year follow-up cross-sectional study on periapical health in relation to the quality of root canal treatment in a Belgian population.

Aim: To investigate the prevalence of apical periodontitis (AP) and the technical standard of root canal treatment in a Belgian population, assess the association of different variables with periapical status, and compare the results to a similar study conducted 22 years previously.

Methodology: In this cross-sectional study, 614 panoramic radiographs of first-time adult attendees at the Dental School of the University Hospital of Ghent were examined. Recorded patient-level parameters included gender, age, number of teeth, number of root filled teeth, presence of any AP lesion, and number of implants.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Background: 5' untranslated regions (5'UTRs) are essential modulators of protein translation. Predicting the impact of 5'UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a comprehensive prioritization strategy and functional assays to evaluate 5'UTR variation in two large cohorts of patients with inherited retinal diseases (IRDs).

Visualisation of microalgal lipid bodies through electron microscopy.

In this study, transmission electron microscopy (TEM) and cryo-scanning electron microscopy (cryo-SEM) were evaluated for their ability to detect lipid bodies in microalgae. To do so, Phaeodactylum tricornutum and Nannochloropsis oculata cells were harvested in both the mid-exponential and early stationary growth phase. Two different cryo-SEM cutting methods were compared: cryo-planing and freeze-fracturing.

Anaesthetist prediction of postoperative opioid use: a multicentre prospective cohort study.

Background: The Apfel simplified risk score includes four risk factors: female sex, non-smoking status, postoperative nausea and vomiting or motion sickness history, and postoperative opioid use. The score is calculated preoperatively, so postoperative opioid use must be predicted. We aimed to determine whether anaesthetists can predict patients' postoperative opioid use and dose.

Comparative efficacy of materials used in patients undergoing pulpotomy or direct pulp capping in carious teeth: A systematic review and meta-analysis.

Objectives: Different materials have been used for capping the pulp after exposure during caries removal in permanent teeth. The purpose of this study was to collate and analyze all pertinent evidence from randomized controlled trials (RCTs) on different materials used in patients undergoing pulpotomy or direct pulp capping in carious teeth.

Materials And Methods: Trials comparing two or more capping agents used for direct pulp capping (DPC) or pulpotomy were considered eligible.

Resin comparison for serial block face scanning volume electron microscopy.

Serial Block Face Scanning Electron Microscopy (SBF-SEM) is one of several volume electron microscopy (vEM) techniques whose purpose is to reveal the nanostructure of cells and tissues in three dimensions. As one of the earliest, and possibly most widely adopted of the disruptive vEM techniques there have been hundreds of publications using the method, although very few comparative studies of specimen preparation parameters. While some studies have focused on staining and specimen acquisition no comparison of resin embedding has yet been conducted.

Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.

Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disease (PID) characterized by a regulatory T cell defect resulting in immune dysregulation and autoimmunity. We present two siblings born to consanguineous parents of North African descent with LRBA deficiency and central nervous system (CNS) manifestations. As no concise overview of these manifestations is available in literature, we compared our patient's presentation with a reviewed synthesis of the available literature.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability.

mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand .

Herpes simplex virus 1 (HSV-1) infects several billion people worldwide and can cause life-threatening herpes simplex encephalitis (HSE) in some patients. Monogenic defects in components of the type I interferon system have been identified in patients with HSE, emphasizing the role of inborn errors of immunity underlying HSE pathogenesis. Here, we identify compound heterozygous loss-of-function mutations in the gene encoding for transcription factor IIIA (TFIIIA), a component of the RNA polymerase III complex, in a patient with common variable immunodeficiency and HSE.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency.

Protocols for cleaning the incisor access cavity contaminated with epoxy resin sealer.

This study compared different methods for cleaning the sealer-contaminated access cavity of upper incisors. After standard endodontic access, the canals of 50 extracted maxillary incisors were chemomechanically prepared and obturated with gutta-percha and epoxy resin sealer. Teeth were randomly assigned to one of five different pulp chamber cleaning protocols (n = 10): air/water spray, ethanol-saturated cotton pellet (CP), ethanol-saturated microbrush reaching the root filling (MB), MB + air polishing (PROPHYflex; KaVo), or MB + etching with 37% phosphoric acid.

Antibiotics at replantation of avulsed permanent teeth? A systematic review.

Objectives: At present there is no clear consensus whether systemic antibiotics should be administered at replantation of an avulsed permanent tooth. This systematic review and meta-analysis assessed the evidence on effectiveness and harms of the administration of systemic antibiotics at replantation of avulsed permanent teeth.

Methods: In August 2020 a systematic literature search was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, for systematic reviews, randomized controlled trials (RCT) and observational controlled studies in MEDLINE, PreMedline, Embase, and the Cochrane databases.

Natural variation at the odorant receptor locus is associated with changes in olfactory behaviour.

In insects, many critical olfactory behaviours are mediated by the large odorant receptor () gene family, which determines the response properties of different classes of olfactory receptor neurons (ORNs). While ORN responses are generally conserved within and between species, variant alleles of the locus have previously been shown to alter the response profile of an ORN class called ab3A. These alleles show potential clinal variation, suggesting that selection is acting at this locus.

A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.

Severe Combined Immune Deficiency (SCID) is a primary deficiency of the immune system in which opportunistic and recurring infections are often fatal during neonatal or infant life. SCID is caused by an increasing number of genetic defects that induce an abrogation of T lymphocyte development or function in which B and NK cells might be affected as well. Because of the increased availability and usage of next-generation sequencing (NGS), many novel variants in SCID genes are being identified and cause a heterogeneous disease spectrum.

Do stool types have an influence on cervicothoracic muscle activity and cervicothoracic posture among dentists/dental students?

It has been shown that the type of stool influences lumbar posture and muscle activity during dental work. Studies investigating the effect on cervicothoracic muscle activity and posture are scarce though. The present study investigated the effect of different stool types on cervicothoracic muscle activity and posture during a dental procedure.

ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.

Purpose: To describe an isolated maculopathy and an intermediate rod-cone dystrophy phenotype as the milder end of the RDH12-related retinal dystrophy spectrum.

Methods: Seven patients (17-34 years of age) underwent an extensive ophthalmic workup including psychophysical and electrophysiological testing and multimodal imaging.

Results: Three patients have isolated macular disease.

Long-Read Sequencing to Unravel Complex Structural Variants of Leading to Cone-Rod Dystrophy and Hearing Loss.

Inactivating variants as well as a missense variant in the centrosomal gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart from this, a complex structural variant (SV) implicating has been reported in CRDHL. Here we aimed to expand the genetic architecture of typical CRDHL by the identification of complex SVs of the region and characterization of their underlying mechanisms.

Postoperative pain after ultrasonically and laser-activated irrigation during root canal treatment: a randomized clinical trial.

Aim: To compare the intensity of postoperative pain after primary root canal treatment of asymptomatic teeth when using ultrasonically (UAI) or laser-activated irrigation (LAI).

Methodology: In this superiority randomized clinical trial (ClinicalTrials.gov ID: NCT03981237) with parallel design, fifty-six patients with an asymptomatic tooth in need of primary root canal treatment were enrolled.

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.

We describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP) carrier phenotype in their mother. Two affected sons, two unaffected daughters, and their mother underwent detailed ophthalmological assessments including Goldmann perimetry, color vision testing, multimodal imaging and ISCEV-standard electroretinography. Genetic testing consisted of targeted next-generation sequencing (NGS) of known XLRP genes and whole exome sequencing (WES) of known inherited retinal disease genes (RetNet-WES).