MicroRNA expression profiling in the adult offspring of rats with periodontal disease.

Objective: The present study investigated the relationship between maternal periodontal disease, insulin resistance, activation of inflammatory pathways and epigenetic modifications in adult offspring.

Design: Therefore, female Wistar rats were divided into control and experimental groups. Seven days after the induction of periodontal disease, female rats from both groups were mated with healthy male rats.

A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.

Background: New paradigms of diagnosis and treatment have changed the neurodegenerative trajectory for individuals with spinal muscular atrophy (SMA). Registries are a critical tool to provide real-world data on treatment patterns, their effects and health care provision within this evolving paradigm of care. This study aimed to evaluate the phenotypic and genotypic landscape, treatment patterns and health impact of SMA in Australia through the national registry.

Food consumption markers and sociodemographic factors associated with obesity among adult women registered in the Food and Nutrition Monitoring System (SISVAN) in Brazil: a cohort study, 2015-2019.

Introduction: Carrying out studies using data from Food and Nutritional Monitoring is crucial given the current epidemiological scenario. This scenario reveals a coexistence of malnutrition and nutritional deficiencies alongside overweight and obesity, particularly among adult women in Brazil. Analyzing the microdata generated by the system is essential for accurately representing food and nutrition indicators in the country.

Evidence of validity of the Risk Self-Medication Questionnaire focused on Health Literacy.

Objectives: to analyze the validity evidence of the internal structure of the Risk Self-Medication Questionnaire Focused on Health Literacy.

Methods: a psychometric study with 499 adults. The internal structure was assessed with exploratory and confirmatory factor analysis to prove the adjustment.

Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.

Background: The rapidly evolving clinical landscape of Duchenne muscular dystrophy (DMD) is driving innovative approaches for early diagnosis through genomic newborn bloodspot screening (NBS). However, the potential impact of these programs on families and healthcare systems remains unexplored. This study assessed the perceived benefits, harms, barriers, and enablers for DMD NBS amongst primary caregivers of children with DMD and healthcare professionals (HCPs).

DHDDS and NUS1: A Converging Pathway and Common Phenotype.

Background: Variants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) cause a neurodevelopmental disorder, classically with prominent epilepsy. Recent reports suggest a complex movement disorder and an overlapping phenotype has been postulated due to their combined role in dolichol synthesis.

Cases: We describe three patients with heterozygous variants in DHDDS and five with variants affecting NUS1.

Construction and validity of a storyboard about breast cancer for women deprived of liberty.

Objectives: to build storyboards based on health literacy about breast cancer for women deprived of liberty for later production of videos and e-books.

Methods: a methodological study, construction and validity of storyboards with 10 expert judges. The Educational Content Validation Instrument in Health and the Suitability Assessment of Materials were used.

Molecular epidemiology of SARS-CoV-2 variants in circulation in the state of Maranhão, Brazil.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a coronavirus belonging to the beta CoV genus, responsible for SARS in humans, which became known as COVID-19. The emergence of variants of this virus is related to the presence of cases of reinfection, reduced vaccine effectiveness and greater transmission of the virus. Objective: In this study, we evaluated the molecular epidemiology of SARS-CoV-2 lineages circulating in the state of Maranhão.

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.

Glycogen storage type V (GSD V-McArdle Syndrome) is a rare neuromuscular disorder characterised by severe pain early after the onset of physical activity. A recent series indicated a diagnostic delay of 29 years; hence reports of children affected by the disorder are uncommon (Lucia et al., 2021, , 31, 1296-1310).

CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation.

Background: Defining the presence of acute and chronic brain inflammation remains a challenge to clinicians due to the heterogeneity of clinical presentations and aetiologies. However, defining the presence of neuroinflammation, and monitoring the effects of therapy is important given its reversible and potentially damaging nature. We investigated the utility of CSF metabolites in the diagnosis of primary neuroinflammatory disorders such as encephalitis and explored the potential pathogenic role of inflammation in epilepsy.

It Takes Two to Tango, Part II: Synthesis of A-Ring Functionalised Quinones Containing Two Redox-Active Centres with Antitumour Activities.

In 2021, our research group published the prominent anticancer activity achieved through the successful combination of two redox centres (-quinone/-quinone or quinone/selenium-containing triazole) through a copper-catalyzed azide-alkyne cycloaddition (CuAAC) reaction. The combination of two naphthoquinoidal substrates towards a synergetic product was indicated, but not fully explored. Herein, we report the synthesis of 15 new quinone-based derivatives prepared from click chemistry reactions and their subsequent evaluation against nine cancer cell lines and the murine fibroblast line L929.

Previous gut microbiota has an effect on postprandial insulin response after intervention with yacon syrup as a source of fructooligosaccharides: a randomized, crossover, double-blind clinical trial.

Objectives: The use of prebiotics has an effect on postprandial glucose and insulin concentrations; however, the interaction between the previous profile of the intestinal microbiota and the effect of supplementation with prebiotics is not clear. Our objective was to evaluate the effect of previous intestinal microbiota profile on the postprandial insulin response to yacon syrup, used as a source of fructooligosaccharides (FOSs), in young women. The product presents high levels of FOS.

Association of coffee intake and its polyphenols with mammographic findings in women who visited the Brazilian Public Health Service.

Objective: this study aimed to evaluate if there is an association of intake of coffee and its polyphenols with mammographic findings in women treated at a breast care service unit of the Unified Health System (SUS), Brazil. Research methods and procedures: this was a cross-sectional study with 532 women treated at a health service. The participants were divided according to their mammographic reports into two groups: without and with altered findings.

Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study.

Background: In light of a new therapeutic era for spinal muscular atrophy (SMA), newborn screening has been proposed as a gateway to facilitate expedient diagnosis and access to therapeutics. However, there is paucity of evidence on health outcomes outside the homogenous populations in clinical trials to justify broader implementation of newborn screening for SMA. In this real-world study, we aimed to investigate the effectiveness of newborn screening coupled with access to disease-modifying therapeutics, as an intervention for SMA.

Psychometric properties of the Brazilian version of the European Health Literacy Survey Questionnaire short form.

The aim of this study was to analyze the psychometric properties of the Portuguese Brazilian version of the instrument for measuring health literacy European Health Literacy Survey Questionnaire short form (HLS-EU-Q16). The study sample consisted of 783 Brazilian adults with a mean age of 38.6 years.

Cultural adaptation and content validity evidence of the Nutritional Literacy Scale Brazilian version.

Objective: To investigate the evidence of content validity and reliability of the Brazilian version of the Nutritional Literacy Scale (NLS) after the cultural adaptation process.

Methods: Psychometric study of 1,197 users of the National Health Service (Brazilian SUS). The NLS was culturally adapted to Brazilian Portuguese and six items of the original scale were modified to improve its understanding, giving rise to the Brazilian version of the scale named NLS-BR.

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.

Duchenne muscular dystrophy (DMD), an X-linked recessive condition is maternally inherited in two-thirds of affected boys. It is important to establish carrier status of female relatives to restore reproductive confidence for non-carriers and facilitate reproductive options and cardiac surveillance for carriers. This study investigates disease incidence within an Australian model of cascade screening and evolving genetic diagnostic technologies.

Urgent computed tomography angiography in paediatric stroke.

Aim: To improve delivery of acute therapies for acute ischaemic stroke (AIS).

Method: We identified factors influencing the speed of diagnosis and delivery of acute therapies in a prospective cohort of 21 children with suspected AIS (eight with AIS, 13 stroke mimics) and explored them in a retrospective cohort with confirmed AIS.

Results: Approximately half of the prospective and total AIS cohorts presented with acute, sustained hemiparesis, and were diagnosed relatively quickly.

Food and Nutrition Surveillance System: temporal trend of coverage and nutritional status of adults registered on the system, Brazil, 2008-2019.

Objective: To analyze the temporal trend of Food and Nutrition Surveillance System (SISVAN) coverage and nutritional status of adults undergoing follow-up in the Brazilian Primary Health Care, 2008-2019.

Methods: This was an ecological time series study using data on Brazilian macro-regions. The annual percent change in the classification of nutritional status and total coverage was estimated using the Prais-Winsten regression model.

Higher carbohydrate quality index is associated with better adequate micronutrient consumption in Brazilian women.

Introduction: inadequate consumption of micronutrients is an emerging public health problem that can compromise health. Objectives: to assess whether the quality of dietary carbohydrates is associated with the consumption of 13 micronutrients in a sample of women monitored by the Brazilian Unified Health System. Methods: this cross-sectional study included 648 women monitored by the Brazilian Unified Health System.

Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy.

Objective: To provide a greater understanding of the tolerability, safety and clinical outcomes of onasemnogene abeparvovec in real-world practice, in a broad population of infants with spinal muscular atrophy (SMA).

Methods: A prospective cohort study of children with SMA treated with onasemnogene abeparvovec at Sydney Children's Hospital Network, Australia was conducted from August 2019 to November 2021. Safety outcomes included clinical and laboratory evaluations.

Women with Abnormal Mammographic Findings and High Neutrophil-to-Lymphocyte Ratio have the Worst Dietary Carbohydrate Quality Index.

Introduction: There are gaps in knowledge in breast cancer prevention studies focusing on interactions among mammographic findings, inflammation, and diet, especially those related to carbohydrates.

Objective: We aimed to verify the association among mammographic findings, inflammatory markers, and carbohydrate quality index (CQI) in women.

Methodology: This was a cross-sectional study of 532 women assisted in a healthcare service.

[Recommendation of tooth extraction and associated factors: cross-sectional study in the Kiriri indigenous population].

The scope of this cross-sectional study was to evaluate the prevalence and the associated factors of the recommendation of dental extraction in the adult Kiriri Indigenous population of northeastern Brazil. A total of 225 natives (≥19 years) were evaluated. The extraction criteria were teeth with clinical attachment loss ≥50% in at least 3 sites, and residual roots.

Evaluating the psychometric properties of the eHealth Literacy Scale in Brazilian adults.

Objective: To translate and adapt the eHealth Literacy Scale for the cultural reality of Brazil and to evaluate the psychometric properties of its Brazilian Portuguese version.

Methods: The instrument was translated and adapted to Brazilian Portuguese and applied to a sample of 502 individuals from 18 to 80 years old who lived in the surrounding areas of six Family Health Units of a city in the countryside of the state of São Paulo, Brazil. The data was evaluated using exploratory and confirmatory factor analysis, item response theory, and instrument reliability measures (Cronbach's alpha and McDonald's omega).