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Background Controlling blood pressure and glycemic levels is a challenge that requires innovative solutions. Objective To assess the feasibility of implementing a text message intervention among low-income primary care patients, as well as to assess self-reported behavioral change. Methods A set of 200 text messages was developed on healthy eating, physical activity, adherence, and motivation. Participants from Vale do Mucuri, MG, Brazil diagnosed with diabetes or hypertension or undergoing screening for those diseases, received 5 to 8 messages per week for 6 months. They answered a questionnaire to report their satisfaction and behavioral changes. Results Of the 136 patients, 117 (86.0%) answered the questionnaire. Most reported that the messages were very useful (86.3%), easy to understand (90.6%), and were very helpful for behavioral change (65.0%); 84.6% reported that they had started eating healthier. The most frequent reported lifestyle changes were: improved diet quality (85.5%), reduced portions (65.8%), and weight loss (56.4%). The majority of patients shared the messages (60.7%) with family or other acquaintances, considered the number of messages to be adequate (89.7%) and would recommend the program to others (95.7%). Conclusion An intervention based on text messages to promote behavioral change in patients with hypertension or diabetes in primary care is feasible in low-resource settings. Future studies are needed to assess the program’s long-term effects on clinical outcomes.

Background Mindfulness has been applied in the United States and Europe to improve physical and psychological health; however, little is known about its feasibility and efficacy in a Brazilian population. Mindfulness may also be relevant in tackling obesity and eating disorders by decreasing binge eating episodes—partly responsible for weight regain for a large number of people—and increasing awareness of emotional and other triggers for overeating. The aim of the present study protocol is to evaluate and compare the feasibility and efficacy of two mindfulness-based interventions (MBIs) addressing overweight and obesity in primary care patients: a general programme called Mindfulness-Based Health Promotion and a targeted mindful eating protocol called Mindfulness-Based Eating Awareness Training. Methods/design A randomised controlled trial will be conducted to compare treatment as usual separately in primary care with both programmes (health promotion and mindful eating) added to treatment as usual. Two hundred forty adult women with overweight and obesity will be enrolled. The primary outcome will be an assessment of improvement in eating behaviour. Secondary outcomes will be (1) biochemical control; (2) anthropometric parameters, body composition, dietary intake and basal metabolism; and (3) levels of mindfulness, stress, depression, self-compassion and anxiety. At the end of each intervention, a focus group will be held to assess the programme’s impact on the participants’ lives, diet and health. A feasibility study on access to benefits from and importance of MBIs at primary care facilities will be conducted among primary care health care professionals and participants. Monthly maintenance sessions lasting at least 1 hour will be offered, according to each protocol, during the 3-month follow-up periods. Discussion This clinical trial will result in more effective mindfulness-based interventions as a complementary treatment in primary care for people with overweight and obesity. If the findings of this study confirm the effectiveness of mindfulness programmes in this population, it will be possible to improve quality of life and health while optimising public resources and reaching a greater number of people. In addition, on the basis of the evaluation of the feasibility of implementing this intervention in primary care facilities, we expect to be able to suggest the intervention for incorporation into public policy. Trial registration ClinicalTrials.gov, NCT02893150. Registered retrospectively on 30 March 2017. Electronic supplementary material The online version of this article (10.1186/s13063-018-2639-y) contains supplementary material, which is available to authorized users.

Designers podem selecionar mídia a partir de tags geradas por usuários em redes sociais, para melhorar seu design com o objetivo de evocar determinadas emoções. No entanto, eles podem confiar nas classificações realizadas? Será que os usuários sentem as mesmas emoções que aquelas associadas à mídia? Este trabalho tem como objetivo auxiliar a tomada de decisão de designers, explorando as emoções de observadores em imagens classificadas por tags. Um estudo empírico online foi realizado com 410 voluntários, que classificaram imagens do Flickr que tinham sido relacionadas pelos usuários da plataforma às cinco emoções básicas e à tag “neutro”. Os resultados sugerem que existem diferenças entre tags e emoções sentidas por este grupo de pessoas em emoções específicas. Por outro lado, as descobertas indicam que a seleção de imagens para nojo e raiva precisam de critério adicional.

Background Evidence suggests anthropometric indicators of obesity are associated with changes in sleep quality and quantity, and the presence of obstructive sleep apnoea (OSA). Investigations including diverse and objective evaluations of sleep and body composition are scarce. We aimed to evaluate the associations between indicators of sleep impairment and body composition states in a sample from a population‐based study. Methods Participants of the first follow‐up of the EPISONO (São Paulo, Brazil) >50 years were cross‐sectionally evaluated. Sleep was assessed through questionnaires, actigraphy, and polysomnography. Body composition was evaluated by bioelectrical impedance analysis. Appendicular skeletal muscle mass adjusted for body mass index defined sarcopenia (men 30% and women >40%). The overlap between both conditions defined sarcopenic obesity (SO). Final results were obtained by multinomial logistic regression analysis. Results Three hundred fifty‐nine adults [mean (standard deviation) age, 61 (8.8) years; 212 (59.1%) female] were enrolled. Obesity was detected in 22.6% of the sample, sarcopenia in 5.6%, and SO in 16.2%. After controlling for covariates, OSA was associated with SO [odds ratio = 3.14, 95% confidence interval (CI) = 1.49–6.61]. Additionally, nocturnal hypoxaemia was associated with both obesity (adjusted odds ratio = 2.59, 95% CI = 1.49–4.49) and SO (odds ratio = 2.92, 95% CI = 1.39–6.13). Other indicators of poor sleep/sleep disorders were not associated with body composition states. Conclusions Sarcopenic obesity but not obesity alone was associated with OSA. Both obesity and SO but not sarcopenia were associated with nocturnal hypoxaemia. The findings suggest a complex pathophysiologic relationship between adverse body composition states and OSA. Upcoming research on risk factors and therapeutic interventions for OSA should target synchronically the lean and adipose body tissues.

Objective Our aim was to evaluate the impact of yogic meditation in sleep quality of healthy pediatric healthcare professionals. Method Subjects were randomized into a meditation group (MG, n = 32), who attended a yogic meditation class held for eight weeks, or a control group (CG, n = 32). Polysomnography (PSG) and Pittsburgh Sleep Quality Index (PSQI) scores were determined at baseline and after eight weeks. Results The PSQI overall score was lower (p = 0.024) in the MG. Reported sleep latency (p = 0.046) and MG sleep latency (p = 0.028) were lower in the MG at eight weeks. PSG showed a time effect (p = 0.020) on decreasing minutes of wake after sleep onset in the MG. There were strong and significant correlations between PSG and PSQI variables. There was a significant time effect on heart rate (p = 0.001) in the MG. Conclusion Yogic meditation may be used as an integrative health tool to foster improvements in the health-related aspects of healthcare professionals' lives. Trial registration CinicalTrials.gov identifier: NCT02947074; trial registry name: Meditation Practice in Pediatric Healthcare Professionals: A Randomized Controlled Clinical Trial.

Objective/background Obstructive sleep apnea (OSA) is a sleep-related breathing disorder that has a complex phenotype. Currently, few genes have been linked with OSA. Thus, the aim of this study was to conduct a genome-wide association study (GWAS) of the apnea-hypopnea index (AHI) variation along time (delta-AHI) in a prospective cohort. Methods We used data derived from the Sao Paulo Epidemiologic Sleep Study (EPISONO) (n = 1074) cohort, which was followed over eight years (n = 712). Our phenotype of interest was delta-AHI and incident OSA. Further, we were interested on the time-dependent effect of genetic variants. Our final GWAS model used delta-AHI as a dependent variable and the SNPs and covariates as independent variables. We also performed a gene-set and pathway analysis. Results The delta-AHI increased on average 6.1 events/hour (standard deviation = 14.9) over the follow-up. We found two significant and 21 suggestive variants associated with delta-AHI. The strongest association (rs12415421) was observed at ST8SIA6 gene and the other significant hit (rs4731117) was in an intergenic region in linkage disequilibrium with our third hit (rs12669165) in the ASB15 gene. We found an effect of the allele rs12415421 for the OSA incidence. Additionally, we observed that individuals with both risk alleles presented a higher incidence of OSA when compared to those with one or without any risk alleles. Conclusions This study has identified genes in these associated regions with delta-AHI, which seem to be involved in growth and stability of muscle and bone. We also observed an effect of both allele frequencies in the incidence of OSA.

Background Mucopolysaccharidose type I (MPSI) is a lysosomal monogenic disease caused by mutations in the gene for α- l-iduronidase (IDUA). MPSI patients need a constant supply of IDUA to alleviate progression of the disease. IDUA gene transfer using integrative vectors might provide a definitive solution and support advancement to clinical trials, although studies have not yet been satisfactory. To achieve a stable IDUA gene expression in vivo, phiC31 was tested in the present study. Methods Several plasmid vectors were constructed and IDUA –/– mice were treated with cyclophosphamide and transfected with these vectors hydrodynamically via tail veins. IDUA expression was monitored over time. Treated and nontreated mice underwent an open-field test at age 8 months, and IDUA activity and glycosaminoglycan (GAG) content of tissues were evaluated. Results High levels of IDUA activity were detected initially (>1000 U/ml), although these levels decayed over time. The reinjection of vectors produced a similar profile of IDUA decay. Three out of six treated mice had IDUA activity in the livers, and also showed lower GAG content, reduced lysosomes and better locomotion. To investigate unsustained IDUA production, wild-type mice were submitted to the same gene therapy procedure, which generated a similar profile of IDUA decay. Anti-IDUA antibody was detected in the sera of these animals. In addition, we also found three methylated sites in the cytomegalovirus promoter region. Conclusions phiC31-mediated gene therapy resulted in an important improvement in IDUA –/– mice, including locomotion, although the obstacles that need to be overcome to enable long-term gene therapy for MPSI are also noted. Copyright © 2015 John Wiley & Sons, Ltd.

There are a growing number of reports showing the influence of redox modulation in cellular signaling. Although the regulation of hematopoiesis by reactive oxygen species (ROS) and reactive nitrogen species (RNS) has been described, their direct participation in the differentiation of hematopoietic stem cells (HSCs) remains unclear. In this work, the direct role of nitric oxide (NO•), a RNS, in the modulation of hematopoiesis was investigated using two sources of NO•, one produced by endothelial cells stimulated with carbachol in vitro and another using the NO•-donor S-nitroso-N-acetyl-d,l-penicillamine (SNAP) in vivo. Two main NO• effects were observed: proliferation of HSCs—especially of the short-term HSCs—and its commitment and terminal differentiation to the myeloid lineage. NO•-induced proliferation was characterized by the increase in the number of cycling HSCs and hematopoietic progenitor cells positive to BrdU and Ki-67, upregulation of Notch-1, Cx43, PECAM-1, CaR, ERK1/2, Akt, p38, PKC, and c-Myc. NO•-induced HSCs differentiation was characterized by the increase in granulocytic-macrophage progenitors, granulocyte–macrophage colony forming units, mature myeloid cells, upregulation of PU.1, and C/EBPα genes concomitantly to the downregulation of GATA-3 and Ikz-3 genes, activation of Stat5 and downregulation of the other analyzed proteins mentioned above. Also, redox status modulation differed between proliferation and differentiation responses, which is likely associated with the transition of the proliferative to differentiation status. Our findings provide evidence of the role of NO• in inducing HSCs proliferation and myeloid differentiation involving multiple signaling. Stem Cells 2014;32:2949–2960

This study aims to compare the effects of a mandibular advancement device (MAD) with continuous positive airway pressure (CPAP) treatment for obstructive sleep apnea (OSA) on blood pressure (BP), oxidative stress, and heart rate variability (HRV) in a randomized, crossed-over, single-blind, and controlled trial. Twenty-nine moderate-to-severe adult OSA patients underwent MAD, CPAP, and placebo oral appliance treatment. Polysomnography, Epworth sleepiness scale, 24-h ambulatory BP monitoring, oxidative stress parameters (malondialdehyde, catalase, superoxide dismutase, vitamins C, E, B6, B12, folate, homocysteine, uric acid), and HRV were assessed at baseline and after 1 month of each treatment. Diaries were used to evaluate compliance for devices and a pressure–time meter for CPAP. Both active treatments resulted in decreases in apnea and hypopnea index and Epworth sleepiness scale; CPAP showed a greater effect. Frequency of diastolic BP dipping was higher in the MAD group compared with the CPAP group. A significant drop from baseline levels for catalase activity was observed after MAD. For HRV, there was a significant decrease in total power at night with CPAP and MAD compared with POA, and a decrease in index of sleep autonomic variation with MAD compared with baseline levels. Compliance rates were higher with MAD rather than CPAP. Even though CPAP proved to be more effective at attenuating OSA, better compliance with MAD favored the reduction of one of the enzymes which participates in oxidative stress and better autonomic modulation during sleep.

This study aims to evaluate the impact of neonatal arthritis on adult pain threshold, sleep and general behaviours in rats and their lactating dams. Male pups were injected in the hind paw with complete Freund’s adjuvant or saline on postnatal day (PN) 1. After weaning, dams were tested for anxiety, sleep recording or hormone profiling (ACTH, corticosterone and prolactin) and brain sampling (pineal melatonin and hippocampus serotonin). At adulthood (PN90), distinct subgroups of neonatal arthritic (AR) and control rats (CR) were also assessed for anxiety and pain thresholds, sleep recording, and blood/brain sampling. Compared to their respective controls at PN12, dams of arthritic rats (DAR) showed a longer latency in expressing pup retrieval and dam–pup interaction. DAR and AR showed a lower pain threshold, anxiety-like behaviour, and sleep fragmentation. Compared to controls, DAR displayed longer sleep latency, reduced paradoxical sleep latency and sleep efficiency, a decrease in prolactin and serotonin levels and increased melatonin levels. This model of unilateral hindpaw inflammation has a wide range of long-term effects in both lactating dams and their adult offspring.

ObjectiveTo evaluate the prevalence of vitamin B12deficiency and factors associated with vitamin B12status in Amazonian children.DesignGenetic risk score (GRS), socio-economic and nutritional status, and morbidity data were the independent variables used in multiple linear regression models to evaluate factors associated with vitamin B12status in a population-based cross-sectional study. GRS was created by summing a number of known risk alleles for low serum vitamin B12.SettingAcrelândia, western Brazilian Amazon.SubjectsChildren (n988) aged ResultsOverall prevalence of vitamin B12deficiency (β=0·017,P=0·030) and animal protein intake(β=0·219,P=0·003) were positively associated with vitamin B12status. GRS (β=−0·114,Pβ=–0·049,P12status was positively associated with wealth index (β=0·012,PZ-score (β=0·024, P=0·033) and serum vitamin A (β=0·089,P<0·001). Age≥60 months(β=–0·118,P<0·001), GRS (β=–0·048, P<0·001), maternal schooling β=–0·083,P<0·001), low intake of animal-derived foods (β=–0·050,P=0·030), serum homocysteine (β=–0·053,P<0·001), serum folate ≥23·6 nmol/l (β=–0·055,P=0·012) and geohelminth infection (β=–0·141,P=0·017) were negatively associated with vitamin B12status.ConclusionsGRS, poverty, low intake of animal-derived foods, geohelminth infection, vitamin A and folate status were important factors associated with vitamin B12status of children in our study.

Classical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. Mutation p.I278T is very prevalent, has been found in all European countries where it has been looked for with the exception of the Iberian peninsula, and is known to respond to vitamin B6. On the other hand, mutation p.T191M is prevalent in Spain and Portugal and does not respond to B6. We analysed 30 pedigrees from Spain, Portugal, Colombia and Argentina, segregating for homocystinuria. The p.T191M mutation was detected in patients from all four countries and was particularly prevalent in Colombia. The number of p.T191M alleles described in this study, together with those previously published, is 71. The prevalence of p.T191M among CBS mutant alleles in the different countries was: 0.75 in Colombia, 0.52 in Spain, 0.33 in Portugal, 0.25 in Venezuela, 0.20 in Argentina and 0.14 in Brazil. Haplotype analyses suggested a double origin for this mutation. No genotype-phenotype correlation other than the B6-nonresponsiveness could be established for the p.T191M mutation. Additionally, three new mutations, p.M173V, p.I429del and c.69_70+8del10, were found. The p.M173V was associated with a mild, B6-responsive, phenotype.

Oral dyskinesias are implicated in a series of neuropathologies and have been associated to an increase in oxidative stress. Several antioxidants, including vitamin E, decrease reserpine-induced oral dyskinesia (OD) in rodents and we have described a protective role of striatal catalase against the development of OD. The aim of this study was to verify the effects of vitamin C alone or in combination with vitamin E on reserpine-induced OD as well as to determine a possible role of catalase in the antidyskinetic property of these vitamins. Different doses of vitamin C attenuated reserpine-induced increase in OD. A similar treatment with an effective dose of vitamin C concomitant to an effective dose of vitamin E potentiated the antidyskinetic effect of both vitamins when administered alone. The administration of these vitamins alone produced an increase in striatal catalase activity that likewise was potentiated by their combined administration. In addition, the antidyskinetic property of vitamin E and vitamin C was abolished by a concomitant treatment with the catalase inhibitor aminotriazole. These results indicate a beneficial effect of these vitamins and reinforce the critical role of striatal catalase against the development of oral dyskinesias.

Rat cisternal (CSF) hypocretin-1 in cerebrospinal fluid was measured after 6 or 96 h of REM sleep deprivation and following 24 h of REM sleep rebound. REM deprivation was found to increase CSF hypocretin-1 collected at zeitgeber time (ZT) 8 but not ZT0. Decreased CSF hypocretin levels were also observed at ZT8 after 24 h of REM sleep rebound. These results suggest that REM sleep deprivation activates and REM sleep rebound inhibits the hypocretin system. Increased hypocretin tone during REM deprivation may be important in mediating some of the effects of REM sleep deprivation such as antidepressant effects, hyperphagia and increased sympathetic activity.

Elevated levels of homocysteine (Hcy) have been associated with major depressive (MD) illness. As human females show a higher predisposition towards depression, this study examined how Hcy levels in rats are affected by sex and estrous cycle in the learned helplessness (LH) model of depression. Male and female rats in either estrus or diestrus were subjected to LH, with intervals of 4 days between the two stress tests and between tests and sacrifice, in order to accommodate the female estrous cycle. No differences were found in LH behavior between males and females at either estrous phase. Control Hcy levels were significantly lower in females than in males (-36%, P

Mucopolysaccharidose type I (MPSI) is a lysosomal monogenic disease caused by mutations in the gene for α- L-iduronidase (IDUA). MPSI patients need a constant supply of IDUA to alleviate progression of the disease. IDUA gene transfer using integrative vectors might provide a definitive solution and support advancement to clinical trials, although studies have not yet been satisfactory. To achieve a stable IDUA gene expression in vivo, phiC31 was tested in the present study.Several plasmid vectors were constructed and IDUA-/- mice were treated with cyclophosphamide and transfected with these vectors hydrodynamically via tail veins. IDUA expression was monitored over time. Treated and nontreated mice underwent an open-field test at age 8 months, and IDUA activity and glycosaminoglycan (GAG) content of tissues were evaluated.High levels of IDUA activity were detected initially (1000 U/ml), although these levels decayed over time. The reinjection of vectors produced a similar profile of IDUA decay. Three out of six treated mice had IDUA activity in the livers, and also showed lower GAG content, reduced lysosomes and better locomotion. To investigate unsustained IDUA production, wild-type mice were submitted to the same gene therapy procedure, which generated a similar profile of IDUA decay. Anti-IDUA antibody was detected in the sera of these animals. In addition, we also found three methylated sites in the cytomegalovirus promoter region.phiC31-mediated gene therapy resulted in an important improvement in IDUA-/- mice, including locomotion, although the obstacles that need to be overcome to enable long-term gene therapy for MPSI are also noted.

The aim of this study was to evaluate genotoxicity and mutagenicity in peripheral blood and buccal mucosal cells in mucopolysaccharidosis (MPS) I, II or VI patients.A total of 12 patients with MPS type I, II and VI attended at the Institute of Genetics and Inborn Errors of Metabolism treated with enzyme replacement therapy (ERT) and 10 healthy control volunteers were included in this study. Mechanically exfoliated cells from cheek mucosa (left and right side) were used to micronucleus test and single cell gel (comet) assay in peripheral blood cells.The results of this study detected the presence of genetic damage in peripheral blood for all individuals with MPS treated with ERT, regardless of type of MPS as depicted by tail moment results. In addition, an increased number of micronucleated cells were found in buccal cells of MPS type II patients. It was also observed an increase of other nuclear alterations closely related to cytotoxicity as depicted by the frequency of pyknosis, karyolysis and karyorrhexis in buccal mucosa cells of MPS VI patients (p 0.05).Taken together, such results demonstrate that metabolic alterations induced by the enzymatic deficiency characteristic of MPS associated with ERT therapy can induce genotoxicity and mutagenicity in peripheral blood and buccal mucosa cells, respectively. This effect appears to be more pronounced to MPS II.

Objective.To evaluate homocysteine levels in patients with Takayasu arteritis (TA) and in controls, and to analyze associations between homocysteine levels and paraoxonase 1 (PON1) activity, cysteine levels, methotrexate use, disease activity, extent of arterial involvement, and ischemic events in patients with TA.Methods.A cross-sectional study was performed with 29 patients with TA and 30 controls who underwent clinical evaluation and blood sample collection in the fasting state.Results.Among patients with TA, active disease was observed in 9 (31.0%) and previous arterial ischemic events in 10 (34.5%). Therapy with methotrexate was prescribed to 9 (31.0%) patients and it was associated with folic acid in 8 cases. Median homocysteine level was higher in patients with TA [10.9 μmol/l, interquartile range (IQR) 9.6–14.8] than in controls (6.9 μmol/l, IQR 5.1–11.9; p < 0.001). No difference was found regarding mean homocysteine levels between those using methotrexate and those under other therapies (12.8 ± 5.3 μmol/l vs 12.1 ± 3.2 μmol/l, respectively; p = 0.662). TA patients with active disease presented lower homocysteine levels (10.4 ± 2.1 μmol/l) compared to TA patients in remission (13.1 ± 4.2 μmol/l) (p = 0.034). A significant correlation was found between cysteine and homocysteine levels in patients with TA (ρ = 0.676, p < 0.0001), while there was no correlation between homocysteine and PON1 activity (ρ = 0.214, p = 0.265). Median homocysteine levels were higher in patients with ischemic events (13.2 μmol/l, IQR 10.9–17.5) compared to patients with no ischemic events (9.8 μmol/l, IQR 8.7–14.7; p = 0.027) and were associated with arterial ischemia in patients with TA (OR 1.31, 95% CI 1.01–1.71, p = 0.041).Conclusion.Patients with TA presented higher homocysteine levels than controls and homocysteine was associated with an increased risk of arterial ischemic events in TA.

a b s t r a c t The ventrolateral preoptic area (VLPO) has been recognized as one of the key structures responsible for the generation of non-REM (NREM) sleep. The melanin-concentrating hormone (MCH)-containing neurons, which are located in the lateral hypothalamus and incerto-hypothalamic area, project widely throughout the central nervous system and include projections to the VLPO. The MCH has been associ- ated with the central regulation of feeding and energy homeostasis. In addition, recent findings strongly suggest that the MCHergic system promotes sleep. The aim of the present study was to determine if MCH generates sleep by regulating VLPO neuronal activity. To this purpose, we characterized the effect of unilateral and bilateral microinjections of MCH into the VLPO on sleep and wakefulness in the rat. Uni- lateral administration of MCH into the VLPO and adjacent dorsal preoptic area did not modify sleep. On the contrary, bilateral microinjections of MCH (100 ng) into these areas significantly increased light sleep (LS, 39.2 ± 4.8 vs. 21.6 ± 2.5 min, P < 0.05) and total NREM sleep (142.4 ± 23.2 vs. 86.5 ± 10.5 min, P < 0.05) compared to control (saline) microinjections. No effect was observed on REM sleep. We conclude that MCH administration into the VLPO and adjacent dorsal lateral preoptic area promotes the generation of NREM sleep.

Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the diagnosis of the disease, but in female carriers the diagnosis based only on enzyme assays is often inconclusive. In this work, we analyzed 568 individuals from 102 families with suspect of FD. Overall, 51 families presented 38 alterations in the GLA gene, among which 19 were not previously reported in literature. The alterations included 17 missense mutations, 7 nonsense mutations, 7 deletions, 6 insertions and 1 in the splice site. Six alterations (R112C, R118C, R220X, R227X, R342Q and R356W) occurred at CpG dinucleotides. Five mutations not previously described in the literature (A156D, K237X, A292V, I317S, c.1177_1178insG) were correlated with low GLA enzyme activity and with prediction of molecular damages. From the 13 deletions and insertions, 7 occurred in exons 6 or 7 (54%) and 11 led to the formation of a stop codon. The present study highlights the detection of new genomic alterations in the GLA gene in the Brazilian population, facilitating the selection of patients for recombinant enzyme-replacement trials and offering the possibility to perform prenatal diagnosis.

Background Evidence suggests that sleep loss is associated with an increased risk of obesity and diabetes; however, animal models have failed to produce weight gain under sleep deprivation (SD). Previous studies have suggested that this discrepancy could be due to more extreme SD conditions in experimental animals, their higher resting metabolic rate than that of humans, and the decreased opportunity for animals to ingest high-calorie foods. Thus, our objective was to determine whether diets with different textures/compositions could modify feeding behavior and affect the metabolic repercussions in SD in rats. Methods Three groups of male rats were used: one was designated as control, one was sleep deprived for 96 h by the platform technique (SD-96h) and one was SD-96h followed by a 24-h recovery (rebound). In the first experiment, the animals were fed chow pellets (CPs); in the second, they received high-fat diet and in the third, they were fed a liquid diet (LD). Results We observed that SD induces energy deficits that were related to changes in feeding behavior and affected by the type of diet consumed. Regardless of the diet consumed, SD consistently increased animals' glucagon levels and decreased their leptin and triacylglycerol levels and liver glycogen stores. However, such changes were mostly avoided in the rats on the liquid diet. SD induces a wide range of metabolic and hormonal changes that are strongly linked to the severity of weight loss. Conclusions The LD, but not the CP or high-fat diets, favored energy intake, consequently lessening the energy deficit induced by SD.

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Tocopherols promote or inhibit growth in different cell types. in the hematopoietic system, the radioprotective property of tocopherols is thought to act through the expansion of primitive hematopoietic cells. However, the mechanisms activated by tocopherols and which HPs are affected remain poorly understood. To better address these questions, mice were treated with alpha-tocopherol, and its effects were investigated in the BM microenvironment. alpha-Tocopherol induced increased proliferation in HSC/HP cells, leading to BM hyperplasia. in addition, differentiation to the granulocytic/monocytic lineage was enhanced by alpha-tocopherol treatment. alpha-Tocopherol treatment resulted in decreased basal phosphorylation of ERK1/2, PKC, and STAT-5 in HSC/HP cells. in contrast, alpha-tocopherol enhanced ERK1/2 activation in response to IL-3 stimulation in HSC/HP cells without altering the expression of IL-3Rs. Moreover, alpha-tocopherol-induced differentiation and ERK1/2 activation were abolished in mice pretreated with a MEK inhibitor (PD98059); however, pretreatment with PD98059 did not reduce the alpha-tocopherol-mediated increase in HSC/HP cells but instead, further enhanced their proliferation. Therefore, alpha-tocopherol induces expansion of HSC/HP cells by a nonidentified intracellular pathway and granulocytic/monocytic differentiation through ERK1/2 activation. J. Leukoc. Biol. 90: 1111-1117; 2011. Universidade Federal de São Paulo, Dept Bioquim, BR-04044020 São Paulo, Brazil Universidade Federal de São Paulo, Dept Biofis, BR-04044020 São Paulo, Brazil Universidade Federal de São Paulo, Dept Oncol Clin & Expt, BR-04044020 São Paulo, Brazil Universidade Federal de São Paulo, Dept Psicobiol, BR-04044020 São Paulo, Brazil Universidade Federal de São Paulo, Dept Bioquim, BR-04044020 São Paulo, Brazil Universidade Federal de São Paulo, Dept Biofis, BR-04044020 São Paulo, Brazil Universidade Federal de São Paulo, Dept Oncol Clin & Expt, BR-04044020 São Paulo, Brazil Universidade Federal de São Paulo, Dept Psicobiol, BR-04044020 São Paulo, Brazil Web of Science

Objective: To compare the results for homocysteine concentration using chemiluminescence and HPLC methods in samples from school-age children. In addition, to determine the reference values for patients of this age group and assess the real prognostic value of homocysteine in healthy children. Methods: A prospective observational study was undertaken to determine plasma levels of homocysteine using two different assays, HPLC and chemiluminescence, in 185 samples from school-age children living in Santo Andre, with no chronic or inflammatory diseases, and absence of pubertal development. Results: The results were presented in percentiles and reference values were determined within this age group (7-9 years old). Homocysteine concentration ranged from 2.0 to 9.9 µmol/l (r = 0.821 and p < 0.001). Conclusions: It was verified that chemiluminescence is comparable to HPLC when both techniques are used to detect homocysteine in school-age children. There is an important correlation between both methods, which allows investigation of this amino acid as a risk factor for heart diseases.