Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.

Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.

Validation of Gene Expression Patterns for Oral Feeding Readiness: Transcriptional Analysis of Set of Genes in Neonatal Salivary Samples.

Background: Neonatal health assessment is crucial for detecting and intervening in various disorders. Traditional gene expression analysis methods often require invasive procedures during sample collection, which may not be feasible or ideal for preterm infants. In recent years, saliva has emerged as a promising noninvasive biofluid for assessing gene expression.

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.

Background: Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis. In this study, we aimed to investigate the correlation between genotype and phenotype in 45 PWS patients who previously underwent methylation-sensitive high-resolution melting (MS-HRM) for diagnosis.

Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation.

Background: Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The isolation of genetic material from oral swabs becomes crucial, especially in settings where blood sample collection is impractical or for vulnerable populations like newborns, who possess limited blood volumes and are often too fragile for invasive procedures. Oral swab samples emerge as an excellent source of DNA, effectively overcoming obstacles associated with rare diseases.

Decidual production of interferon lambda in response to ZIKV persistence: Clinical evidence and modelling.

Zika virus (ZIKV) infections during pregnancy can result in Congenital Zika Syndrome (CZS), a range of severe neurological outcomes in fetuses that primarily occur during early gestational stages possibly due to placental damage. Although some placentas can maintain ZIKV persistence for weeks or months after the initial infection and diagnosis, the impact of this viral persistence is still unknown. Here, we aimed to investigate the immunological repercussion of ZIKV persistence in term placentas.

The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.

Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES) for suspected hereditary pediatric cataracts. Molecular diagnosis of suspected hereditary pediatric cataracts is important for comprehensive genetic counseling.

Magnetic Mesoporous Silica for Targeted Drug Delivery of Chloroquine: Synthesis, Characterization, and In Vitro Evaluation.

Malaria is a dangerous tropical disease, with high morbidity in developing countries. The responsible parasite has developed resistance to the existing drugs; therefore, new drug delivery systems are being studied to increase efficacy by targeting hemozoin, a parasite paramagnetic metabolite. Herein, magnetic mesoporous silica (magMCM) was synthesized using iron oxide particles dispersed in the silica structure for magnetically driven behavior.

Exploring uterine inflammation in postpartum primiparous precocious and conventional and multiparous Bos indicus beef cows.

This study aimed to compare the postpartum uterine dynamics of primiparous precocious (PP), primiparous conventional (PC) and multiparous conventional (MC) Bos indicus beef cows. For this purpose, PP (n = 8), PC (n = 18) and MC (n = 12) cows were enrolled in this study. These cows were evaluated at 20 and 10 days prepartum and weekly from parturition to 42 days postpartum (DPP).

Real-time PCR in the diagnosis of congenital toxoplasmosis.

The diagnosis of congenital toxoplasmosis presents limitations and therefore new options are necessary. The analysis of amniotic fluid by real-time PCR has already proved effective for confirmation of fetal infection. However, its performance in other biological samples is not clear yet.

Impact of Genomic Deletion RD16 on the Expression of the BCG Moreau VapBC47 Toxin-Antitoxin System.

BCG is the only vaccine against tuberculosis. The variable forms of cultivation throughout the years, before seed-lots were developed, allowed in vitro evolution of the original strain, generating a family of vaccines with different phenotypic and genotypic characteristics. Molecular studies revealed regions of difference (RDs) in the genomes of the various BCG strains.

GnRH34 with or without estradiol cypionate in timed AI in Bos indicus beef cows.

Two experiments were performed to evaluate the effects of GnRH treatment on the fertility of suckled Nelore beef cows treated with an estradiol/progesterone (E2/P4)-based protocol for timed artificial insemination (TAI). Experiment 1 focused on determining the effects of estradiol cypionate (EC) on ovulation in TAI cows treated with GnRH 34 h after removal of the intravaginal P4 device (IPD). Suckled cows (n = 26) were treated with 2 mg estradiol benzoate (EB) and IPD containing 1 g P4.

Barriers to employing digital technologies for a circular economy: A multi-level perspective.

Industry 4.0 and digital technologies might significantly impact resource optimization in a smart circular economy. However, adopting digital technologies is not easy due to barriers that may arise during this process.

Internal load in male professional volleyball: a systematic review.

Introduction: The aims of this systematic review were to synthesize the volleyball internal load values presents in the literature, verify the applicability of the different tools for quantification and monitoring these variables, and analyze the similarity with the matches and training loads.

Evidence Acquisition: This review followed the PRISMA statement recommendations, and the search was carried out in the databases: PubMed/NCBI, SportDiscus via EBSCOhost, SciELO and in the Brazilian Library of Theses. Twenty-six studies meet the criteria and were included.

Congenital Zika Syndrome Is Associated With Interferon Alfa Receptor 1.

Host factors that influence Congenital Zika Syndrome (CZS) outcome remain elusive. Interferons have been reported as the main antiviral factor in Zika and other flavivirus infections. Here, we accessed samples from 153 pregnant women (77 without and 76 with CZS) and 143 newborns (77 without and 66 with CZS) exposed to ZIKV conducted a case-control study to verify whether interferon alfa receptor 1 () and interferon lambda 2 and 4 () single nucleotide polymorphisms (SNPs) contribute to CZS outcome, and characterized placenta gene expression profile at term.

Novel Mutation in Causing Pediatric Cataract and Microphthalmia.

Up to 25% of pediatric cataract cases are inherited, with half of the known mutant genes belonging to the crystallin family. Within these, crystallin beta B3 () has the smallest number of reported variants. Clinical ophthalmological and genetic-dysmorphological evaluation were performed in three autosomal dominant family members with pediatric cataract and microphthalmia, as well as one unaffected family member.

Leisure-time exercise is associated with lower depressive symptoms in community dwelling adults.

Physical activity has been associated with enhanced mental health among adults. However, it is not clear in the literature which domains (occupational, transport and leisure-time exercise) and intensities (moderate, vigorous and moderate-to-vigorous) of activity provide the greatest benefits. The aim of the present study was to describe the association of different domains and intensities of physical activity with depressive symptoms in adults.

PCR-based diagnosis is not always useful in the acute acquired toxoplasmosis in immunocompetent individuals.

Toxoplasmosis is the most prevalent zoonosis in the world and is associated with a large spectrum of diseases. Acute acquired toxoplasmosis (AAT) is considered a benign and self-limiting disease but severe postnatal infections have been reported, particularly in South America. Laboratory diagnosis is based on the detection of anti-Toxoplasma gondii IgM, IgG, and presence of low IgG avidity.

Effect of fluoride, casein phosphopeptide-amorphous calcium phosphate and sodium trimetaphosphate combination treatment on the remineralization of caries lesions: An in vitro study.

Objective: To evaluate the effects of combination of treatments with fluoridated toothpastes supplemented with sodium trimetaphosphate (TMP) and casein phosphopeptide-amorphous calcium phosphate (MI Paste Plus®), on the remineralization of dental enamel.

Design: Enamel blocks with artificial caries were randomly allocated into six groups (n = 12), according to the toothpastes: 1) without F-TMP-MI Paste Plus® (Placebo); 2) 1100 ppm F (1100 F), 3) MI Paste Plus®, 4) 1100 F + MI Paste Plus® (1100 F-MI Paste Plus®), 5) 1100 F + 3% TMP (1100 F-TMP) and 6) 1100 F-TMP + MI Paste Plus® (1100 F-TMP-MI Paste Plus®). Blocks were treated 2×/day with slurries of toothpastes (1 min).

Toxoplasmosis in pregnancy: a clinical, diagnostic, and epidemiological study in a referral hospital in Rio de Janeiro, Brazil.

Toxoplasmosis in pregnant women can cause significant morbidity and mortality in the fetus, which may be mitigated by early diagnosis and treatment. Social factors have also been related to the risk of developing the congenital form of toxoplasmosis, since some of these factors interfere directly in the quality of prenatal care. This study aimed to describe the clinical, laboratory, and epidemiological data of pregnant women diagnosed with toxoplasmosis and their newborns followed up at a referral hospital in Rio de Janeiro, Brazil.

Combined effect of casein phosphopeptide-amorphous calcium phosphate and sodium trimetaphosphate on the prevention of enamel demineralization and dental caries: an in vitro study.

Objective: To evaluate the effect of treatment with fluoridated toothpaste supplemented with a combination of sodium trimetaphosphate (TMP) and casein phosphopeptide-amorphous calcium phosphate (MI Paste Plus) on the demineralization of dental enamel.

Methods: Bovine enamel blocks selected by initial surface hardness (SHi) were randomly allocated into six groups (n = 12), according to the test toothpastes: (1) without F-TMP-MI Paste Plus (Placebo); (2) 1100 ppm F (1100F); (3) MI Paste Plus; (4) 1100F + MI Paste Plus (1100F-MI Paste Plus), (5) 1100F + 3 % TMP (1100F-TMP); and (6) 1100F-TMP + MI Paste Plus (1100F-TMP-MI Paste Plus). Blocks were treated two times per day with slurries of toothpaste (1 min), and groups 4 and 6 received an application of MI Paste Plus (3 min).

NEOTROPICAL CARNIVORES: a data set on carnivore distribution in the Neotropics.

Mammalian carnivores are considered a key group in maintaining ecological health and can indicate potential ecological integrity in landscapes where they occur. Carnivores also hold high conservation value and their habitat requirements can guide management and conservation plans. The order Carnivora has 84 species from 8 families in the Neotropical region: Canidae; Felidae; Mephitidae; Mustelidae; Otariidae; Phocidae; Procyonidae; and Ursidae.

A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.

Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct imprinted disorders characterized by genetic abnormalities at 15q11-q13. Early diagnosis of both syndromes provides improved treatment and accurate genetic counseling. Whole blood (WB) is the most common DNA source of many methodologies to detect PWS and AS, however, the need of WB makes a massive screening difficult in newborns due to economic and technical limitations.

Molecular alterations in the extracellular matrix in the brains of newborns with congenital Zika syndrome.

Zika virus (ZIKV) infection during pregnancy can cause a set of severe abnormalities in the fetus known as congenital Zika syndrome (CZS). Experiments with animal models and in vitro systems have substantially contributed to our understanding of the pathophysiology of ZIKV infection. Here, to investigate the molecular basis of CZS in humans, we used a systems biology approach to integrate transcriptomic, proteomic, and genomic data from the postmortem brains of neonates with CZS.

Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome.

Prader-Willi syndrome (PWS) is a complex imprinting disorder related to genomic errors that inactivate paternally-inherited genes on chromosome 15q11-q13 with severe implications on endocrine, cognitive and neurologic systems, metabolism, and behavior. The absence of expression of one or more genes at the PWS critical region contributes to different phenotypes. There are three molecular mechanisms of occurrence: paternal deletion of the 15q11-q13 region; maternal uniparental disomy 15; or imprinting defects.