Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.

Inherited retinal diseases (IRDs) are a group of rare genetic eye conditions that cause blindness. Despite progress in identifying genes associated with IRDs, improvements are necessary for classifying rare autosomal dominant (AD) disorders. AD diseases are highly heterogenous, with causal variants being restricted to specific amino acid changes within certain protein domains, making AD conditions difficult to classify.

Expanding the phenotypic and genotypic spectrum of patients with -related retinopathy.

Background: Variants in HGSNAT have historically been associated with syndromic mucopolysaccharidosis type IIIC (MPSIIIC) but more recent studies demonstrate cases of HGSNAT-related non-syndromic retinitis pigmentosa. We describe and expand the genotypic and phenotypic spectrum of this disease.

Materials And Methods: This is a retrospective, observational, case series of 11 patients with pericentral retinitis pigmentosa due to variants in HGSNAT gene without a syndromic diagnosis of MPSIIIC.

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene panel or whole exome sequencing. In this study, we aimed to investigate the contributions of structural variants (SVs) to settling the molecular diagnosis of IRD with whole-genome sequencing (WGS). A cohort of 755 IRD patients whose pathogenic mutations remain undefined were subjected to WGS.

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene panel or whole exome sequencing. In this study, we aimed to investigate the contributions of structural variants (SVs) to settling the molecular diagnosis of IRD with whole-genome sequencing (WGS). A cohort of 755 IRD patients whose pathogenic mutations remain undefined was subjected to WGS.

Quantitative evaluation of very early cartilage damage in experimental osteoarthritis using scanning electron microscopy.

Objective: To describe parametric changes observed using scanning electron microscopy (SEM) in very early stages in posttraumatic osteoarthritis (OA) models in mice.

Methods: Mice (5/group) had their knees subjected to anterior cruciate ligament transection (ACLT), ACLT plus meniscectomy (MNCT) or sham surgery, sacrificed after 3, 7 or 14 days, had the articular cartilage evaluated under optical microscopy using Osteoarthritis Research Society International (OARSI) parameters as well as cartilage thickness, roughness, and a damage index using SEM.

Results: Alterations of the cartilage under optical microscopy were not significantly relevant among groups.

In-person and virtual assessment of oral radiology skills and competences by the Objective Structured Clinical Examination.

Purpose: Clinical education is an essential part of the Dental School curriculum and assessment is a fundamental component of the teaching-learning process.

Objectives: With the purpose of implementing a structured and objective assessment method in the teaching of Oral Radiology, undergraduate dentistry students were submitted to an assessment of clinical competences and skills in radiology by the Objective Structured Clinical Examination (OSCE), applied both in-person and virtually (VOSCE).

Methods: The same group of students was evaluated by the OSCE and VOSCE in six-station circuits that involved the assessment of clinical skills in Oral Radiology.

Birdshot retinochoroiditis in Brazil: a multicenter review of 40 patients.

Background: Birdshot retinochoroiditis (BRC) is a rare and chronic bilateral uveitis mostly found in Caucasians. As few data are available about the clinical course of BRC in Hispanic patients, we aimed to report the clinical findings and the evolution of BRC in Brazilian patients.

Methods: This retrospective cohort multicenter nationwide study was performed by analyzing the records of patients with BRC diagnoses from Brazilian ophthalmological centers from April 1995 to May 2020.

EYS-Associated Sector Retinitis Pigmentosa.

Purpose: Sector retinitis pigmentosa (RP) is a rare form of rod-cone degeneration typically associated with mutations in the RHO gene. We describe six unrelated patients presenting with this atypical phenotype in association with biallelic mutations in EYS gene.

Methods: Multinational, multicentre cross-sectional case series.

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.

Purpose: Leber congenital amaurosis due to CEP290 mutations (LCA10) is an inherited retinal disease that often results in severe visual impairment or blindness in early childhood. Currently, there are no approved treatments, highlighting the considerable unmet medical need associated with LCA10. We aimed to review the clinical characteristics of LCA10, its impact on patients and society, and the investigational treatment strategies currently in development.

Cardiac autonomic control following resistance exercise with different set configurations in apparently healthy young men: A crossover study.

We compared the heart rate variability (HRV) after a low-intensity resistance exercise (LI-RE) with short (SSC/LI-RE) and long (LSC/LI-RE) set configurations, composed of 10 and 20 repetitions, respectively. Randomly, ten young males performed one session of both RE protocols. Time- and frequency-domain, and nonlinear HRV parameters were assessed at baseline and 20-30 and 50-60 min after protocols.

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.

Purpose: Previous studies suggest that ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. However, no pathogenic variant in ceramide synthases has been identified in human patients and knockout of various ceramide synthases in mice has not led to photoreceptor degeneration.

Methods: Exome sequencing was used to identify candidate disease genes in patients with vision loss as confirmed by standard evaluation methods, including electroretinography (ERG) and optical coherence tomography.

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Leber congenital amaurosis (LCA) and early-onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of all retinal dystrophies in the world population and about 10% in Brazil. Clinical findings and molecular basis of syndromic and nonsyndromic LCA/EORD in a Brazilian sample (152 patients/137 families) were studied.

Pathogenicity Reclasssification of Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.

A challenge in molecular diagnosis and genetic counseling is the interpretation of variants of uncertain significance. Proper pathogenicity classification of new variants is important for the conclusion of molecular diagnosis and the medical management of patient treatments. The purpose of this study was to reclassify two missense variants, c.

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a molecular diagnosis is essential to assigning an accurate clinical diagnosis. Using our gene panel that targets 300 genes that are known to cause retinal disease, including 24 genes reported to cause LCA, we sequenced 43 unrelated probands with Brazilian ancestry.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis after conventional exon sequencing and variant interpretation. Here, we evaluated how many patients with an inherited retinal disease (IRD) have variants of uncertain significance (VUS) that are disrupting splicing in a known IRD gene by means other than affecting the canonical dinucleotide splice site. Three in silico splice-affecting variant predictors were leveraged to annotate and prioritize variants for splicing functional validation.

Association between Obstructive Sleep Apnea and Myocardial Infarction: A Systematic Review.

Obstructive sleep apnea (OSA) has been associated to cardiovascular risk factors. However, the association between OSA and cardiovascular disease is still controversial. The objective of the present study was to verify the association between OSA and myocardial infarction (MI).

Safety zone for posterosuperior shoulder access: study on cadavers.

Objective: The posterosuperior shoulder access used in surgical treatment for acromioclavicular dislocation was constructed through dissection of 20 shoulders from 10 recently chilled adult cadavers, and the distances from this route to the nearby neurovascular structures were analyzed.

Methods: A Kirschner wire was introduced into the top of the base of the coracoid process through the posterosuperior shoulder access, in the area of the origin of the conoid and trapezoid ligaments, thus reproducing the path for inserting two anchors for anatomical reconstruction of the coracoclavicular ligaments. The smallest distance from the insertion point of the Kirschner wire to the suprascapular nerve and artery/vein was measured.

Chromosomal polymorphism in Rineloricaria lanceolata Günther, 1868 (Loricariidae: Loricariinae) of the Paraguay basin (Mato Grosso do Sul, Brazil): evidence of fusions and their consequences in the population.

Rineloricaria is the most species-rich genus of the Loricariinae (armored catfish) with 65 valid species. However, the karyotype structure is known only for eight species in this group. This study provides cytogenetic data for Rineloricaria lanceolata collected from the upper Paraguay basin (Mato Grosso do Sul).

Evaluation of patients undergoing rotator cuff suture with the modified mason-allen technique.

Objective: : The purpose of this study was to clinically evaluate patients who underwent Arthroscopic Rotator Cuff Repair (RC) using the Modified Manson-Allen technique.

Methods: : We evaluated 79 patients who underwent shoulder arthroscopy. The lesions were repaired using the modified Mason-Allen suture between 2003 and 2009, divided by Cofield classification and clinically evaluated by the scoring system of the University of Los Angeles (UCLA) in the pre- and postoperative periods.

Herpes zoster optic neuritis.

Herpes zoster (HZ) is an acute infection caused by reactivation of the latent varicella-zoster virus [1]. Herpes zoster ophthalmicus (HZO) occurs when inflammation spreads from the ganglion of Gasser to the ophthalmic branch of the trigeminal nerve. Optic neuritis, a very rare sequela of HZO [2-4], can occur simultaneously to the acute vesicular skin eruption or, more frequently, as a postherpetic complication.

Low-level infrared laser therapy in chemotherapy-induced oral mucositis: a randomized placebo-controlled trial in children.

Background: Oral mucositis (OM) is one of the most frequent complications of chemotherapy for which there is no standard therapy; treatment is mostly conservative. This study was conducted to determine whether low-intensity laser therapy (LLLT) can reduce the duration of chemotherapy-induced OM.

Procedure: A placebo-controlled randomized trial was carried out using LLLT or placebo (sham treatment).