The Perspective of Rehabilitation Nurses on Physical Exercise in the Rehabilitation of Older People in the Community: A Qualitative Study.

In the face of an increasingly aging population, nurses have to design and implement programs aimed at the elderly in order to keep them healthy and maintain their quality of life. Structured physical exercise and overall physical activity play a major role in maintaining an active lifestyle, improving health, preventing disease, and helping to maintain older people's quality of life. To investigate the importance of implementing physical exercise programs for the older person in the community, taking into account the perspective of the rehabilitation nurse specialist, this is a qualitative, exploratory, and descriptive study with nine rehabilitation nurses from various regions of Portugal who have experience of implementing physical exercise programs with the elderly. This study used semi-structured interviews, one of the most common data collection procedures in social and health research. Content analysis was used to analyze the data. The study received a positive opinion from the Ethics Committee. The participants' perspectives focused on the following subjects: "Physical exercise program for the elderly in the community", "Importance of physical exercise in the rehabilitation of the elderly in the community", "People's adherence to the programs", "Gains in health resulting from the implementation of these strategies" and "Gains from group activities". A set of indicators emerged from the analysis. Nurses recognize the importance of using structured physical exercise programs adjusted to the rehabilitation of the older person, with gains in promoting active and healthy aging.

Cardiovascular rhythmicity in overweight and obese children / Ritmicidade cardiovascular em crianças com sobrepeso e obesidade

Abstract Introduction: Obesity is thought to play a role in the disruption of cardiac rhythmicity in obese children, but this is mostly an unexplored field of investigation. We aimed to evaluate the impact of overweight and obesity on circadian and ultradian cardiovascular rhythmicity of prepubertal children, in comparison with normal weight counterparts. Methods: We performed a cross sectional study of 316 children, followed in the birth cohort Generation XXI (Portugal). Anthropometrics and 24-hour ambulatory blood pressure were measured and profiles were examined with Fourier analysis for circadian and ultradian blood pressure (BP) and heart rate (HR) rhythms. Results: Overweight/obese children presented more frequently a non-dipping BP pattern than normal weight counterparts (31.5% vs. 21.6%, p = 0.047). The prevalence of 24-hour mean arterial pressure (MAP) and 8-hour HR rhythmicity was significantly lower in obese children (79.3% vs. 88.0%, p = 0.038 and 33.3% vs. 45.2%, p = 0.031, respectively). The prevalence of the remaining MAP and HR rhythmicity was similar in both groups. No differences were found in the median values of amplitudes and acrophases of MAP and HR rhythms. Discussion: The alterations found in rhythmicity suggest that circadian and ultradian rhythmicity analysis might be sensitive in detecting early cardiovascular dysregulations, but future studies are needed to reinforce our findings and to better understand their long-term implications.

Resumo Introdução: Acredita-se que a obesidade desempenhe um papel na desregulação da ritmicidade cardíaca em crianças obesas, mas esse é um campo de investigação ainda pouco explorado. O objetivo deste trabalho foi avaliar o impacto do sobrepeso e da obesidade na ritmicidade cardiovascular circadiana e ultradiana de crianças pré-púberes, em comparação com crianças com peso normal. Métodos: Realizamos um estudo transversal com 316 crianças, acompanhadas na coorte de nascimentos Geração XXI (Portugal). Foram medidos dados antropométricos e a pressão arterial ambulatorial de 24 horas, e os perfis foram examinados com uma análise de Fourier para ritmos circadianos e ultradianos de pressão arterial (PA) e frequência cardíaca (FC). Resultados: Crianças com sobrepeso/obesidade apresentaram mais frequentemente um padrão de PA não-dipper em comparação com crianças com peso normal (31,5% vs. 21,6%; p = 0,047). A prevalência da pressão arterial média (PAM) de 24 horas e da ritmicidade da FC de 8 horas foi significativamente menor em crianças obesas (79,3% vs. 88,0%; p = 0,038 e 33,3% vs. 45,2%; p = 0,031, respectivamente). A prevalência das restantes ritmicidades da PAM e da FC foi semelhante em ambos os grupos. Não foram encontradas diferenças nos valores medianos das amplitudes e acrofases dos ritmos de PAM e FC. Discussão: As alterações encontradas na ritmicidade sugerem que a análise da ritmicidade circadiana e ultradiana pode ser sensível na detecção de desregulações cardiovasculares precoces, mas são necessários novos estudos para reforçar nossos achados e entender melhor suas implicações a longo prazo.

Cardiovascular rhythmicity in overweight and obese children.

INTRODUCTION: Obesity is thought to play a role in the disruption of cardiac rhythmicity in obese children, but this is mostly an unexplored field of investigation. We aimed to evaluate the impact of overweight and obesity on circadian and ultradian cardiovascular rhythmicity of prepubertal children, in comparison with normal weight counterparts. METHODS: We performed a cross sectional study of 316 children, followed in the birth cohort Generation XXI (Portugal). Anthropometrics and 24-hour ambulatory blood pressure were measured and profiles were examined with Fourier analysis for circadian and ultradian blood pressure (BP) and heart rate (HR) rhythms. RESULTS: Overweight/obese children presented more frequently a non-dipping BP pattern than normal weight counterparts (31.5% vs. 21.6%, p = 0.047). The prevalence of 24-hour mean arterial pressure (MAP) and 8-hour HR rhythmicity was significantly lower in obese children (79.3% vs. 88.0%, p = 0.038 and 33.3% vs. 45.2%, p = 0.031, respectively). The prevalence of the remaining MAP and HR rhythmicity was similar in both groups. No differences were found in the median values of amplitudes and acrophases of MAP and HR rhythms. DISCUSSION: The alterations found in rhythmicity suggest that circadian and ultradian rhythmicity analysis might be sensitive in detecting early cardiovascular dysregulations, but future studies are needed to reinforce our findings and to better understand their long-term implications.

Escola sem partido e conservadorismo moral: instrumentalização da religião, sexualidade e gênero / School without party and moral conservatism: the instrumentalization of religion, sexuality and gender / Escuela sin partido y conservadurismo moral: la instrumentalización de la religión, sexualidad y género

Este artigo tem por objetivo identificar e discutir alguns estratagemas psicológicos utilizados por movimentos conservadores e autoritários recentemente difundidos no Brasil - em especial, pelo Movimento Escola sem Partido -, em relação a temas como sexualidade e gênero, que atualmente foram incluídos como essenciais à formação escolar. Com esse propósito, empenhamo-nos em compreender a perspectiva cultural em que se apoiam e o modo como a articulam, ideologicamente, para inviabilizar o debate sobre eles. A partir da análise dos Projetos de Lei 246/2019 e 1859/2015, identificamos estratégias conservadoras que, autoritariamente, deslegitimam sua inclusão na formação escolar. Dentre elas, pareceu-nos urgente investigar a instrumentalização da religião, pois favorece a subordinação da crença religiosa, sobretudo associada ao conservadorismo moral imbricado na tradição cristã brasileira, ao discurso político autoritário. Assim como os movimentos fascistas que, nos Estados Unidos da década de 1930, reivindicavam um ordenamento autoritário e opressor da sociedade por meio do apelo a conteúdos religiosos instrumentalizados para esse fim, atualmente, o discurso religioso também é utilizado como forma de suscitar adesão ao conservadorismo social e político e de justificar preconceitos arraigados. Constatamos que a instrumentalização da religião é uma forma de justificar a permanência de valores conservadores na escola e na sociedade, bem como de reiterar o modelo de família heterossexual monogâmica e a ordem patriarcal. Por meio de estratagemas como esses, os movimentos conservadores e autoritários, articulados em função da negação da diversidade sexual e de gênero, impedem que a escola se constitua como espaço democrático e diverso.(AU)

This paper identifies and discusses the psychological ploys employed by recent conservative and authoritarian movements in Brazil, particularly the School without Party movement, against topics like sexuality and gender, which are currently included as essential to school education. To do so, we sought to understand their cultural basis and how they are ideologically articulated to prevent school debate around these topics. By analyzing Bills 246/2019 and 1859/2015, we identified some conservative strategies that authoritatively delegitimize their inclusion in school education. Chief among them is the instrumentalization of religion, since it favors subordinating religious belief, mainly associated with traditional Christian moral conservatism, to authoritarian political discourse. Similar to the fascist movements in the 1930s United States that claimed an authoritarian and oppressive ordering of society by appealing to religious content, religious speech is currently instrumentalized to encourage social and political conservatism adherence and to justify deep-seated prejudices. Religion instrumentalization is used to justify upholding conservative values at school and in society, as well as to reiterate the monogamous heterosexual family model and patriarchy. Through such ploys, authoritarian and conservative movements, articulated around denying sexual and gender diversity, prevent the school from becoming a democratic and diverse environment.(AU)

Este artículo tiene por objetivo identificar y discutir algunas de las estratagemas psicológicas que utilizan los movimientos conservadores y autoritarios, difundidas recientemente en Brasil, en particular por el Movimiento Escuela sin Partido, con relación a temas como sexualidad y género, que actualmente se incluyeron en la formación escolar. Con este propósito, se pretende comprender la base cultural en la que se han apoyado y cómo la articulan ideológicamente para hacer inviable el debate sobre ellas. A partir de análisis de los Proyectos de Ley 246/2019 y 1859/2015, se identificaron estrategias conservadoras que, autoritariamente, deslegitiman la inclusión de estos temas en la formación escolar. Entre ellas, parece urgente analizar la instrumentalización de la religión, porque favorece la subordinación de la creencia religiosa al discurso político autoritario, sobre todo asociada al conservadurismo moral presente en las vertientes del cristianismo brasileño. Al igual que los movimientos fascistas en los Estados Unidos en los años 1930 que reivindicaban una planificación autoritaria de la sociedad mediante un llamado a contenidos religiosos instrumentalizados, actualmente se utiliza el discurso religioso como forma de promover la adhesión al conservadurismo social y político y de justificar los prejuicios. Se constata que la instrumentalización de la religión es un modo de justificar la permanencia de valores conservadores en la escuela, así como de confirmar el modelo de familia heterosexual monógama y el orden patriarcal. Estos estratagemas que son utilizados por los movimientos conservadores y autoritarios, articulados en función de la negación de la diversidad sexual y de género, impiden que la escuela sea democrática y diversa.(AU)

Determinants of skeletal fragility in acromegaly: a systematic review and meta-analysis.

PURPOSE: Vertebral fractures (VFs) are a potential complication in acromegaly. However, the etiology of this skeletal fragility is unknown. This review aimed to evaluate the effect of acromegaly on VFs, bone turnover, areal bone mineral density (aBMD), and bone quality/microarchitecture. The effect of disease activity and gonadal status in these determinants of skeletal fragility was also evaluated. METHODS: Articles published in English until September 6, 2020 on PubMed and Embase that reported at least one determinant of skeletal fragility in acromegalic patients, were included. Odds ratio (OR) to evaluate the risk of VFs and the standardized mean difference (SMD) to evaluate bone turnover, aBMD and bone quality/microarchitecture were calculated. RESULTS: Fifty-eight studies met eligibility criteria, assembling a total of 2412 acromegalic patients. Of these, 49 studies were included in the meta-analysis. Acromegalic patients, when compared to non-acromegalic patients, had higher risk of VFs [OR 7.00; 95% confidence interval (CI) 2.80-17.52; p < 0.0001], higher bone formation (SMD 1.14; 95% CI 0.69-1.59; p < 0.00001), higher bone resorption (SMD 0.60; 95% CI 0.09-1.10; p = 0.02) and higher aBMD at the femoral neck (SMD 0.36; 95% CI 0.15-0.57; p = 0.0009). No significant differences were found regarding aBMD at lumbar spine. Considering the results of the different techniques evaluating bone quality/microarchitecture, the main reported alterations were a decrease in trabecular bone thickness and density, and an increase in trabecular separation. The presence of active disease and/or hypogonadism were associated with worst results. CONCLUSION: Patients with acromegaly are at increased risk of VFs, mainly because of deterioration in bone microarchitecture.

Oleoresins and naturally occurring compounds of Copaifera genus as antibacterial and antivirulence agents against periodontal pathogens.

Invasion of periodontal tissues by Porphyromonas gingivalis and Aggregatibacter actinomycetemcomitans can be associated with aggressive forms of periodontitis. Oleoresins from different copaifera species and their compounds display various pharmacological properties. The present study evaluates the antibacterial and antivirulence activity of oleoresins obtained from different copaifera species and of ten isolated compounds against two causative agents of periodontitis. The following assays were performed: determination of the minimum inhibitory concentration (MIC), determination of the minimum bactericidal concentration (MBC), and determination of the antibiofilm activity by inhibition of biofilm formation and biofilm eradication tests. The antivirulence activity was assessed by hemagglutination, P. gingivalis Arg-X and Lis-X cysteine protease inhibition assay, and A. actinomycetemcomitans leukotoxin inhibition assay. The MIC and MBC of the oleoresins and isolated compounds 1, 2, and 3 ranged from 1.59 to 50 µg/mL against P. gingivalis (ATCC 33277) and clinical isolates and from 6.25 to 400 µg/mL against A. actinomycetemcomitans (ATCC 43717) and clinical isolates. About the antibiofilm activity, the oleoresins and isolated compounds 1, 2, and 3 inhibited biofilm formation by at least 50% and eradicated pre-formed P. gingivalis and A. actinomycetemcomitans biofilms in the monospecies and multispecies modes. A promising activity concerning cysteine protease and leucotoxin inhibition was also evident. In addition, molecular docking analysis was performed. The investigated oleoresins and their compounds may play an important role in the search for novel sources of agents that can act against periodontal pathogens.

Production of Lysozyme-PLGA-Loaded Microparticles for Controlled Release Using Hot-Melt Extrusion.

Biopharmaceuticals are usually administered intravenously with frequent dosing regimens which may decrease patient compliance. Controlled-release formulations allow to reduce the frequency of injections while providing a constant dosing of the biopharmaceutical over extended periods. These formulations are typically produced by emulsions, requiring high amounts of organic solvents and have limited productivity. Hot-melt extrusion (HME) is an alternative technology to produce controlled drug delivery systems. It is a continuous solvent-free process, leading to a small ecological footprint and higher productivity. However, it may induce thermolabile compounds' degradation. In this work, the impact of the formulation and extrusion temperature on lysozyme's bioactivity and release profile of poly(lactic-co-glycolic acid) (PLGA)-based extended release formulations were evaluated using a design-of-experiments (DoE) approach. The lysozyme-loaded PLGA microparticles were produced by HME followed by milling. It was observed that the in vitro release (IVR) profile was mainly affected by the drug load; higher drug load led to higher burst and total lysozyme release after 14 days. HME temperature seemed to decrease lysozyme's activity although this correlation was not statistically significant (p value = 0.0490). Adding polyethylene glycol 400 (PEG 400) as a plasticizer to the formulation had no significant impact on the lysozyme release profile. The burst release was effectively mitigated with the inclusion of a washing step. Washing the microparticles with water reduced the burst release by 80% whereas washing them with a poly(vinyl alcohol) (PVA) aqueous solution eliminated it. In conclusion, HME is demonstrated to be suitable in producing controlled-release microparticles of small biopharmaceuticals. Graphical abstract.

Dihydrofolate Reductase (DHFR) del19bp Polymorphism and Down Syndrome Offspring.

Down syndrome (DS) is the most common form of mental disability of genetic etiology. Nondisjunction of chromosome 21 is the leading cause of the syndrome. In general, free trisomy 21 cases originate from missegregation in maternal meiosis. Several reports have suggested an association between genetic variants in genes encoding folate metabolizing enzymes and the predisposition to chromosome missegregation. We have conducted a case-control study of 109 DS case mothers (MDS) and 248 control mothers (CM) to assess the association between DHFR del19bp polymorphism and an increased risk of bearing a DS child. Genomic DNA was extracted from buccal cells, and molecular analysis of DHFR del19pb polymorphism was performed by polymerase chain reaction (PCR). Both MDS and CM allelic and genotypic distributions were in Hardy-Weinberg equilibrium. The frequency of DHFR del19pb-mutated allele was 0.54 in MDS and 0.46 in CM. Overall analysis showed that the mutant allele was borderline associated with DS risk (OR 1.38; 95% CI 1.00-1.89; P = 0.05) and a weak positive association for del/del and/or wt/del genotypes of DHFR del19pb polymorphism compared to homozygous wt/wt genotype was identified (OR = 1.75; 95% CI 1.01-3.03; P = 0.05). When we have analyzed data stratified by age, there is an increased risk of bearing a DS child associated with the polymorphic allele (OR = 1.49; 95% CI 1.03-2.16; P = 0.03), suggesting that DHFR del 19-bp polymorphism could be an independent risk factor for DS in women aged < 40 years old.

Arterial stiffness in children and adolescents with and without continuous insulin infusion.

Background Arterial stiffness is a consequence of aging, but there are several diseases that contribute to this process. The evaluation of pulse wave velocity (PWV) allows a dynamic evaluation of vascular distensibility and the detection of atherosclerosis at an early stage. It was intended to evaluate the PWV in children and adolescents with type 1 diabetes mellitus (T1DM) and to compare their outcome according to the type of treatment used. Methods Forty-eight patients were randomly selected. Inclusion criteria: T1DM, under intensive insulin therapy (multiple daily insulin administrations [MDI] or continuous insulin infusion system [CIIS]). Exclusion criteria: existence of another chronic pathology or microvascular complications. Echocardiography was performed and three measurements of PWV were done, with their mean calculated. Results Most of the children and adolescents presented a PWV ≥ the 75th centile. There was a statistically significant difference for hemoglobin A1c (HbA1c) (7.8 in CIIS vs. 9 in MDI, p < 0.05). There were not statistically significant differences in the PWV between the two groups. This can be attributed to the fact that children with CIIS are those who previously presented greater glycemic instability. There was a significant correlation between PWV and disease duration (Pearson's correlation coefficient [r] = 0.314, p = 0.036). Conclusions This study showed that in children and adolescents with T1DM, there is an important prevalence of arterial stiffness, translated by an increase in PWV. This increase in PWV appears to exist even in very young children with little disease evolution time.

Physiological response, antioxidant enzyme activities and conservation of banana treated with ethanol vapor.

Ethanol can inhibit ethylene and retard decay of several fruit. However, the effect of ethanol on ethylene and oxidative stress has not yet been observed in bananas. In this work, the effect of ethanol (vapor phase) on physiology and conservation of the banana cv. 'Prata' was investigated. Initially, a group of bananas was analyzed during 8 h of exposure to ethanol, and then another group of bananas was exposed to ethanol for 4 h and then analyzed during 12 days of storage. Ethanol and ethylene concentrations, respiration rate, superoxide dismutase and catalase activities, physico-chemical characteristics and fruit decay were evaluated. Ethanol reduced ethylene production and respiration rate of the banana only when it reached 4 h of exposure, and this was associated with a maximum absorption of ethanol in the fruit peel. Ethanol increased superoxide dismutase and catalase activities from fruit peel only in the first 2 h of exposure to ethanol, i.e. ethanol did not generate significant oxidative stress. During storage, ethanol inhibited ethylene production and was also able to delay fruit decay, but it was not able to influence the respiration rate, conversion of sugars, and fresh weight loss of the fruits. This study showed that ethanol vapor has an inhibitory effect on ethylene metabolism, but it has no potential to control post-harvest ripening of the banana cv. 'Prata'. On the other hand, ethanol delays decay, and this extends fruit shelf life, which is commercially advantageous.

Early myocardial changes induced by doxorubicin in the nonfailing dilated ventricle.

Several studies have demonstrated that administration of doxorubicin (DOXO) results in cardiotoxicity, which eventually progresses to dilated cardiomyopathy. The present work aimed to evaluate the early myocardial changes of DOXO-induced cardiotoxicity. Male New Zealand White rabbits were injected intravenously with DOXO twice weekly for 8 wk [DOXO-induced heart failure (DOXO-HF)] or with an equivolumetric dose of saline (control). Echocardiographic evaluation was performed, and myocardial samples were collected to evaluate myocardial cellular and molecular modifications. The DOXO-HF group presented cardiac hypertrophy and higher left ventricular cavity diameters, showing a dilated phenotype but preserved ejection fraction. Concerning cardiomyocyte function, the DOXO-HF group presented a trend toward increased active tension without significant differences in passive tension. The myocardial GSSG-to-GSH ratio and interstitial fibrosis were increased and Bax-to- Bcl-2 ratio presented a trend toward an increase, suggesting the activation of apoptosis signaling pathways. The macromolecule titin shifted toward the more compliant isoform (N2BA), whereas the stiffer one (N2B) was shown to be hypophosphorylated. Differential protein analysis from the aggregate-enriched fraction through gel liquid chromatography-tandem mass spectrometry revealed an increase in the histidine-rich glycoprotein fragment in DOXO-HF animals. This work describes novel and early myocardial effects of DOXO-induced cardiotoxicity. Thus, tracking these changes appears to be of extreme relevance for the early detection of cardiac damage (as soon as ventricular dilation becomes evident) before irreversible cardiac function deterioration occurs (reduced ejection fraction). Moreover, it allows for the adjustment of the therapeutic approach and thus the prevention of cardiomyopathy progression. NEW & NOTEWORTHY Identification of early myocardial effects of doxorubicin in the heart is essential to hinder the development of cardiac complications and adjust the therapeutic approach. This study describes doxorubicin-induced cellular and molecular modifications before the onset of dilated cardiomyopathy. Myocardial samples from doxorubicin-treated rabbits showed a tendency for higher cardiomyocyte active tension, titin isoform shift from N2B to N2BA, hypophosphorylation of N2B, increased apoptotic genes, left ventricular interstitial fibrosis, and increased aggregation of histidine-rich glycoprotein.

Neurocognitive profiles in adolescents and young adults with congenital heart disease.

INTRODUCTION AND OBJECTIVES: The objectives of this study were to assess the neuropsychological performance (NP) of adolescents and young adults with congenital heart disease (CHD), comparing them with a group of healthy controls, to determine whether there are different neurocognitive phenotypes in CHD, and to identify their relation to sociodemographic, neonatal, clinical and psychological adjustment variables. METHODS: A total of 217 CHD patients (116 male, aged 15.73±2.68 years) and 80 controls (35 male, age 16.76±2.22 years) underwent an extensive neuropsychological assessment and analysis of psychological adjustment. RESULTS: CHD patients had significantly poorer NP than healthy controls in all neurocognitive domains. Three different phenotypes of NP in CHD patients were identified: non-impaired (NI), moderately impaired (MI) and globally impaired (GI). They differed in all dimensions of NP. The GI cluster showed fewer years of schooling (p=0.025) and lower neonatal indicators such as head circumference (p=0.019), 1-min Apgar score (p=0.006), birth weight (p=0.05) and length (p=0.034) than the NI cluster. In the MI and GI clusters, there were more cyanotic forms of disease, including tetralogy of Fallot and transposition of the great arteries. The GI cluster presented more difficulties with psychological adjustment, including social (p=0.038), attention (p=0.001) and aggressive (p=0.003) problems. CONCLUSIONS: CHD patients have poorer NP than controls. NP in the CHD group can be classified in three clusters that reflect different levels of neuropsychological functioning, which is sensitive to social, neonatal and psychological adjustment variables.

Pulmonary involvement in neonatal lupus: a challenging diagnosis - case report and literature review.

INTRODUCTION: Pulmonary involvement is relatively frequent in adult and juvenile patients with Systemic Lupus Erythematosus (SLE), but its occurrence in newborns with Neonatal Lupus Erythematosus (NLE) is exceedingly rare. CASE REPORT: A mother with SLE and positive anti-SSA/Ro and anti-SSB/La delivered a preterm newborn with third-degree heart block and positive anti-SSA/Ro confirmed postnatally. A temporary pacemaker was placed at D3 and a definitive pacemaker only at D15 due to sepsis with concurrent mild respiratory failure. Despite adequate antibiotic therapy, negative cultures and decreasing inflammatory parameters, at D17 severe respiratory failure ensued, requiring mechanical ventilation. Chest x-ray showed symmetrical interstitial infiltrates. Acute Lupus Pneumonitis (ALP) and Pulmonary Embolism were suspected and the chest angio-CT revealed diffuse ground glass opacities. After 3 methylprednisolone pulses he improved rapidly. DISCUSSION: The diagnosis of ALP in NLE, mostly one of exclusion, is a challenge. A high degree of suspicion and a multidisciplinary approach to these patients are fundamental in order not to delay establishing a diagnosis. Although few reports in the literature, early aggressive treatments are probably crucial for a favorable outcome without long-term sequelae.

DNA (cytosine-5)-methyltransferase 3B (DNMT 3B) polymorphism and risk of Down syndrome offspring.

Down syndrome (DS) is the most common form of human genetic mental retardation. Several polymorphisms in genes coding folic acid cycle enzymes have been associated to the risk of bearing a DS child; however, the results are controversial. S-adenosyl-l-methionine (SAM) is an important intermediate of folic acid pathway and acts as methyl donor and substrate for DNA (cytosine-5)-methyltransferase 3B (DNMT3B - EC 2.1.1.37) de novo methylation processes during embryogenesis. Recent studies suggest that a functional polymorphism of DNMT 3B in maternal genotype may be associated with a decreased risk of having a DS child. We herein investigate the association of this polymorphism with the occurrence of DS in a Brazilian population. We have genotyped 111 mothers of DS infants (MDS) and 212 control mothers (CM) through PCR-RFLP. The observed genotypic frequencies were CC = 0.22; CT = 0.49 and TT = 0.29 in CM, and CC = 0.30; CT = 0.52 and TT = 0.18 in MDS. Allelic frequencies were C = 0.47 and T = 0.53 in CM and C = 0.56 and T = 0.44 in MDS. No deviation of HWE was observed, and both DNMT 3B rs2424913 genotype (χ2 = 4.53; DF = 1; P = 0.03) and allelic (χ2 = 4.90; DF = 1; P = 0.03) frequencies show significant differences between MDS and CM. The presence of the mutant DNMT 3B T allele decreases 30% the risk of bearing a DS child (OR = 0.69; 95% CI: 0.50-0.96; P = 0.03), and the risk is diminished up to 45% in association with the homozygous genotype (OR = 0.54; 95% CI: 0.31-0.96; P = 0.04). Our results suggest that women harboring the single nucleotide polymorphism DNMT 3B rs2424913 have a decreased risk of a DS pregnancy, and further studies are necessary to confirm this protective effect.

Neonatal lupus - case series of a tertiary hospital.

Neonatal lupus (NL) is a very rare condition with an estimated incidence of 1 in 20.000 pregnancies. It is caused by the transplacental passage of autoantibodies anti-Ro/SSA, antiSa/SSB antibodies and/or anti-U1 RNP antibodies into the fetal circulation. The mother may be completely asymptomatic or have a known inflammatory rheumatic disease, such as Sjögren syndrome (SS) or Systemic Lupus Erythematosus (SLE). Clinical manifestations are diverse, being the most common cutaneous and cardiac. The authors present a case series of eight cases diagnosed with NL between January 2008 and December 2016 in a tertiary hospital and a brief revision of the literature.

Neonatal dilated cardiomyopathy.

Cardiomyopathies are rare diseases of the heart muscle, of multiple causes, that manifest with various structural and functional phenotypes but are invariably associated with cardiac dysfunction. Dilated cardiomyopathy is the commonest cardiomyopathy in children, and the majority present before one year of age. Its etiology may be acquired or genetic. Myocarditis is an important cause and is responsible for the majority of acquired cases. Inherited (familial) forms of dilated cardiomyopathy may occur in 25-50% of patients. Echocardiographic and tissue Doppler studies are the basis for diagnosis of dilated cardiomyopathy in most patients. Marked dilatation of the left ventricle with global hypokinesis is the hallmark of the disease. This review will cover the classification, epidemiology and management of newborns with dilated cardiomyopathy. In particular, a comprehensive and up-to-date review of the genetic study of dilated cardiomyopathy and of detailed echocardiographic assessment of these patients will be presented.

Determinants of carotid-femoral pulse wave velocity in prepubertal children.

BACKGROUND: Pulse wave velocity (PWV) is a noninvasive technique to evaluate arterial stiffness, a dynamic property of the vessels, reflecting their structure and function. Childhood obesity is associated with several cardiovascular comorbidities and to the progression of atherosclerosis. We aimed to compare carotid-femoral PWV between normal weight and overweight/obese prepubertal children and to quantify its association with other cardiovascular risk factors. METHODS: Cross-sectional study of 315 children aged 8-9years. Anthropometrics, 24-h ambulatory blood pressure (BP) and carotid-femoral PWV were measured. Classification of obesity was according to World Health Organization (WHO) body mass index (BMI)-for-age reference values. RESULTS: Compared to normal weight children, overweight and obese children presented significantly higher levels of PWV (4.95 (P25-P75: 4.61-5.23), 5.00 (4.71-5.33), 5.10 (4.82-5.50) m/s, respectively; ptrend<0.001). Significant positive correlations were found between PWV and total cholesterol, LDL cholesterol, triglycerides, fasting insulin and insulin resistance levels (HOMA-IR) and with high-sensitivity C-reactive protein (hs-CRP). In a multivariate linear regression model adjusted for sex, age, height and 24-h systolic blood pressure z-score, the independent determinants of PWV were BMI, HOMA-IR and the absence of dipping. CONCLUSIONS: The association between PWV and the loss of dipping and insulin resistance levels, independently of the BMI, reinforces the contribution of these comorbidities to vascular injury in early life.

Early cardiac changes induced by a hypercaloric Western-type diet in "subclinical" obesity.

"Obesity cardiomyopathy" effects have been widely described; however, the specific contribution of metabolic changes and altered adipokine secretion are still uncharacterized. Moreover, a diagnosis based on body mass index might not be the most accurate to identify increased adiposity and its outcomes. In this study, we aimed to determine the impact of a Western-type diet [hypercaloric diet (HCD)] ingestion on biventricular structure and function, as well as the metabolic and endocrine changes that occur before the establishment of overt obesity. Wistar rats were fed for 6 wk with a regular diet or HCD. At the end of the protocol, metabolic tests, cardiac structure, and functional evaluation were performed, and blood and tissue samples collected to perform histological, molecular biology, and functional studies. The animals that ingested the HCD presented increased adiposity and larger adipocyte cross-sectional area, but similar body weight compared with the regular diet group. At the cardiac level, HCD induced biventricular cardiomyocyte hypertrophy, fibrosis, increased stiffness, and impaired relaxation. Galectin-3 plasma expression was likewise elevated in the same animals. The nutritional modulation also altered the secretory pattern of the adipose tissue, originating a proinflammatory systemic environment. In this study, we observed that before "clinical" overweight or frank obesity is established, the ingestion of a HCD-induced cardiac remodeling manifests by increased biventricular stiffness and diastolic dysfunction. The mechanism triggering the cardiac alterations appears to be the proinflammatory environment promoted by the adipose tissue dysfunction. Furthermore, galectin-3, a profibrotic molecule, might be a potential biomarker for the myocardial alterations promoted by the HCD before overweight or obesity.

Association of myeloperoxidase levels with cardiometabolic factors and renal function in prepubertal children.

INTRODUCTION: Myeloperoxidase (MPO), an enzyme linking obesity and cardiovascular (CV) risk in adults, has rarely been studied in young children and no studies assessed its association with renal function. We sought to explore a possible association between serum MPO levels, obesity, CV risk factors and renal function in prepubertal children. MATERIALS/METHODS: Cross-sectional evaluation of 309 children aged 8-9 years (161 normal weight, 148 overweight/obese), members of the birth cohort Generation I (Portugal). Anthropometrics (body mass index (BMI), waist-to-height ratio (WHtR) and % body fat mass (%BFM) by bioelectrical impedance analysis), 24-h ambulatory blood pressure monitoring and pulse wave velocity (PWV) were measured. Insulin resistance was estimated by the HOMA index (considering serum fasting glucose and insulin determinations). Serum MPO levels were assessed by immunoenzymatic assay. RESULTS: MPO levels were positively associated with obesity indices (BMI z-score, WHtR and %BFM). Higher MPO levels were associated with higher 24-h and night-time mean arterial pressure, with nondipping and with higher values of insulin resistance. In normal weight children, the endothelial function, as evaluated indirectly by PWV, was an independent predictor of MPO levels. In overweight/obese children, estimated glomerular filtration rate increased significantly across tertiles of MPO (Ptrend = 0·031) and this association held after adjustment for age, sex, neutrophil and monocyte counts and CV risk factors. CONCLUSIONS: Our results reinforce the role of MPO as a risk marker in obesity and related CV morbidities in young children. MPO levels associate with the dipping pattern and PWV and, among overweight/obese children, an association exists between MPO and renal function.

Gender and obesity modify the impact of salt intake on blood pressure in children.

BACKGROUND: Most modifiable risk factors for high blood pressure (BP), such as obesity and salt intake, are imprinted in childhood and persist into adulthood. The aim of our study was to evaluate the intake of salt in children and to assess its impact on BP taking into account gender and nutritional status. METHODS: A total of 298 children aged 8-9 years were evaluated in a cross-sectional study. Anthropometric measurements and 24-h ambulatory monitoring were performed, and salt intake was determined by 24-h urinary sodium excretion. RESULTS: The average estimated salt intake among the entire cohort of children enrolled in the study was 6.5 ± 2.2 g/day, and it was significantly higher in boys than in girls (6.8 ± 2.4 vs. 6.1 ± 1.9 g/day, respectively; p = 0.018) and in overweight/obese children than in normal weight children (6.8 ± 2.4 vs. 6.1 ± 2.0 g/day, respectively; p = 0.006). Salt intake exceeded the upper limit of the US Dietary Reference Intake in 72% of children. Daytime systolic BP increased by 1.00 mmHg (95% confidence interval 0.40-1.59) per gram of daily salt intake in overweight/obese boys, but not in normal weight boys or in girls. CONCLUSIONS: Our results demonstrate an extremely high salt intake among 8- to 9-year-old Portuguese children. Higher salt intake was associated with higher systolic BP in boys, specifically in those who were overweight/obese. Longitudinal studies are needed to further evaluate the causal relationship between obesity and high BP and the mechanism by which salt intake modulates this relationship. Nonetheless, based on our results, we urge that dietary salt reduction interventions, along with measures to fight the global epidemic of obesity, be implemented as early in life as possible.