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1.
Int. j. cardiovasc. sci. (Impr.) ; 36: e20220050, 2023. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1430492

ABSTRACT

Abstract 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.

2.
J. bras. pneumol ; 49(3): e20230027, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1440440

ABSTRACT

ABSTRACT Objective: To analyze the relationship between one-minute sit-to-stand test (1MSTST) parameters and a diagnosis of post COVID-19 condition in a cohort of patients who previously had COVID-19. Methods: This was a prospective cohort study of patients with post COVID-19 condition referred for body plethysmography at a tertiary university hospital. Post COVID-19 condition was defined in accordance with the current WHO criteria. Results: Fifty-three patients were analyzed. Of those, 25 (47.2%) met the clinical criteria for post COVID-19 condition. HR was lower in the patients with post COVID-19 condition than in those without it at 30 s after initiation of the 1MSTST (86.2 ± 14.3 bpm vs. 101.2 ± 14.7 bpm; p < 0.001) and at the end of the test (94.4 ± 18.2 bpm vs. 117.3 ± 15.3 bpm; p < 0.001). The ratio between HR at the end of the 1MSTST and age-predicted maximal HR (HRend/HRmax) was lower in the group of patients with post COVID-19 condition (p < 0.001). An HRend/HRmax of < 62.65% showed a sensitivity of 78.6% and a specificity of 82.0% for post COVID-19 condition. Mean SpO2 at the end of the 1MSTST was lower in the patients with post COVID-19 condition than in those without it (94.9 ± 3.6% vs. 96.8 ± 2.4%; p = 0.030). The former group of patients did fewer repetitions on the 1MSTST than did the latter (p = 0.020). Conclusions: Lower SpO2 and HR at the end of the 1MSTST, as well as lower HR at 30 s after initiation of the test, were associated with post COVID-19 condition. In the appropriate clinical setting, an HRend/HRmax of < 62.65% should raise awareness for the possibility of post COVID-19 condition.


RESUMO Objetivo: Analisar a relação entre parâmetros do teste de se sentar e levantar durante um minuto (TSL1) e o diagnóstico de síndrome pós-COVID-19 em uma coorte de pacientes que anteriormente apresentaram COVID-19. Métodos: Estudo prospectivo de coorte de pacientes com síndrome pós-COVID-19 encaminhados para realizar pletismografia corporal em um hospital universitário terciário. A síndrome pós-COVID-19 foi definida conforme os critérios atuais da OMS. Resultados: Foram analisados 53 pacientes. Destes, 25 (47,2%) preencheram os critérios clínicos de síndrome pós-COVID-19. A FC foi menor nos pacientes com síndrome pós-COVID-19 do que naqueles sem a síndrome 30 s após o início do TSL1 (86,2 ± 14,3 bpm vs. 101,2 ± 14,7 bpm; p < 0,001) e no fim do teste (94,4 ± 18,2 bpm vs. 117,3 ± 15,3 bpm; p < 0,001). A relação entre a FC no fim do TSL1 e a FC máxima prevista para a idade (FCfim/FCmáx) foi menor nos pacientes com síndrome pós-COVID-19 (p < 0,001). A relação FCfim/FCmáx < 62,65% apresentou sensibilidade de 78,6% e especificidade de 82,0% para síndrome pós-COVID-19. A média da SpO2 no fim do TSL1 foi menor nos pacientes com síndrome pós-COVID-19 do que naqueles sem a síndrome (94,9 ± 3,6% vs. 96,8 ± 2,4%; p = 0,030). Os pacientes com síndrome pós-COVID-19 realizaram menos repetições durante o TSL1 do que os sem a síndrome (p = 0,020). Conclusões: SpO2 e FC mais baixas no fim do TSL1 e FC mais baixa 30 s após o início do teste apresentaram relação com síndrome pós-COVID-19. No contexto clínico apropriado, a relação FCfim/FCmáx < 62,65% deve alertar para a possibilidade de síndrome pós-COVID-19.

3.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 37(3): 312-317, July-Sept. 2019. tab, graf
Article in English | LILACS | ID: biblio-1041342

ABSTRACT

ABSTRACT Objective: To report the stabilization of urinary glycosaminoglicans (GAG) excretion and clinical improvements in patients with mucopolysaccharidosis type I (MPS I) under an alternative dose regimen of laronidase of 1.2 mg/kg every other week. Methods: We participated in a dose-optimization trial for laronidase in MPS-I patients using four alternative regimens: 0.58 mg/kg every week, 1.2 mg/kg every two weeks, 1.2 mg/kg every week and 1.8 mg/kg every other week (EOW). After the trial ended, the patients resumed the recommended dose and regimen of 0.58 mg/kg every week. Under this regimen, some patients presented difficulties in venous access and were unable to commute weekly to the treatment center. Therefore, we used an alternative regimen that consisted of 1.2 mg/kg EOW in eight patients. A retrospective study of medical records of MPS-I patients who underwent both enzyme replacement therapy (ERT) regimens, of 0.58 mg/kg every week and 1.2 mg/kg EOW, was done. Results: Patients remained clinically stable under the alternative regimen, did not present elevation of urinary GAG nor any adverse event. Conclusions: The switch of dose regimen to 1.2 mg/kg EOW of laronidase was safe, and did not cause any clinical worsening in patients who had been previously under standard dose ERT.


RESUMO Objetivo: Descrever a manutenção dos níveis de glicosaminoglicano (GAG) excretados na urina e da estabilização clínica em pacientes com mucopolissacaridose do tipo I (MPS I) com o uso da laronidase num regime de dose alternativo de 1,2 mg/kg a cada duas semanas. Método: Alguns pacientes do nosso serviço participaram de um estudo de otimização de dose da laronidase para o tratamento da MPS I no qual foram comparados quatro esquemas terapêuticos: 0,58 mg/kg/semana, 1,2 mg/kg a cada duas semanas, 1,2 mg/kg/semana e 1,8 mg/kg a cada duas semanas. Após o término do estudo, todos os pacientes passaram a receber a terapia de reposição enzimática (TRE) na dose padrão de bula, que é de 0,58 mg/kg/semana, e nesse regime alguns pais se queixaram da dificuldade em comparecer ao centro todas as semanas, além da dificuldade de se obter acesso para punção venosa. Com base nessas queixas, oito pacientes passaram a receber a TRE no regime alternativo de 1,2 mg/kg a cada duas semanas. Foi feito o estudo retrospectivo de dados de prontuário de pacientes com MPS I que fizeram TRE com laronidase nas doses 0,58 mg/kg/semana e 1,2 mg/kg a cada duas semanas. Resultados: Os pacientes mantiveram-se clinicamente estáveis, não apresentaram aumento dos níveis de GAG urinários nem eventos adversos durante o regime alternativo de dose. Conclusões: A mudança para o esquema de 1,2 mg/kg de laronidase a cada duas semanas foi segura e não acarretou piora clínica nos pacientes que já estavam em TRE na dose padrão.


Subject(s)
Humans , Male , Female , Child , Adolescent , Young Adult , Mucopolysaccharidosis I/drug therapy , Enzyme Replacement Therapy/methods , Iduronidase/therapeutic use , Retrospective Studies , Treatment Outcome , Mucopolysaccharidosis I/physiopathology
4.
Rev. epidemiol. controle infecç ; 9(2): 167-176, 2019. ilus
Article in Portuguese | LILACS | ID: biblio-1021795

ABSTRACT

Justificativa e Objetivos: O Brasil vem apresentando uma intensa transição epidemiológica, diante desse novo cenário, o Ministério da Saúde decidiu criar os Núcleos Hospitalares de Epidemiologia (NHE) em hospitais de referência no Brasil. Levando em consideração esse cenário suscitaram-se inquietações no sentido de conhecer a funcionalidade dos NHE, avaliar a partir de uma revisão de literatura o funcionamento dos Núcleos de Vigilância Epidemiológica no Brasil. Conteúdo: Realizou-se uma revisão integrativa da bibliografia brasileira do tipo qualitativa, realizada a partir de 10 publicações científicas em língua Portuguesa entre os anos de 2007 a 2017, indexadas na BVS e BDTD no período de janeiro a março de 2018. Conclusão: Os Núcleos Hospitalares de Epidemiologia destacam-se como um setor de referência para a realização da notificação compulsória e para o manejo com as situações de doenças e agravos de notificação compulsória dentro do ambiente hospitalar. Apesar de sua importância neste contexto, verificou-se o não cumprimento das exigências e competências estabelecidas na portaria 2.529/2004.(AU)


Background and Objectives: Brazil has been presenting an intense epidemiological transition, concerning this new scenario, the Ministry of Health decided to create through Administrative Rule No. 2,529 from November 23rd, 2004, the Hospital Epidemiology Centers in reference hospitals (NHE) in Brazil. Regarding this, there were concerns about the functionality of NHE. From the review of literature, to evaluate the functioning of Epidemiological Surveillance Nucleus in Brazil. Content: An integrative review of the qualitative Brazilian bibliography was carried out, based on 10 scientific publications published in Portuguese between 2007 and 2017, indexed in VHL and BDTD database libraries in the period from January to March 2018. Conclusion: NHE's stand out as a sector of reference for the accomplishment of compulsory notification and for handling diseases situations and compulsory notification aggravations within the hospital environment. On the other hand, we still face the non-compliance of the demands and competences established in Administrative Rule number 2529/2004.(AU)


Justificación y Objetivos: Brasil viene presentando una intensa transición epidemiológica. Delante de ese nuevo escenario, el Ministerio de Salud decidió crear, a través del Decreto n° 2.529 de 23 de noviembre de 2004, los Núcleos Hospitalarios de Epidemiologia en hospitales de referencia en Brasil. Teniendo en cuenta ese escenario, se han suscitado inquietudes en el sentido de conocer la funcionalidad de los NHE, evaluar, a partir de una revisión de literatura, el funcionamiento de los Núcleos de Vigilancia Epidemiológica en Brasil. Contenido: Se ha llevado a cabo una revisión integradora de la bibliografía brasileña de tipo cualitativa, realizada a partir de 10 publicaciones científicas, publicadas en lengua portuguesa entre los años de 2007 a 2017, e indexadas en las bibliotecas de bases de datos BVS y BDTDen el período de enero a marzo de 2018. Conclusión: Los NHE se destacan como un sector de referencia para la realización de la notificación compulsoria y para el manejo de las situaciones, enfermedades y agravios de dicha notificación dentro del ambiente hospitalario. Por otro lado, nos deparamos aún con el incumplimiento de las exigencias y competencias establecidas en el Decreto 2.529/2004.(AU)


Subject(s)
Humans , Brazil , Epidemiological Monitoring , Epidemiology
5.
Arq. neuropsiquiatr ; 76(12): 831-839, Dec. 2018. tab, graf
Article in English | LILACS | ID: biblio-983856

ABSTRACT

ABSTRACT Considering aging as a phenomenon in which there is a decline in essential processes for cell survival, we investigated the autophagic and proteasome pathways in three different groups: young, older and oldest old male adults. The expression profile of autophagic pathway-related genes was carried out in peripheral blood, and the proteasome quantification was performed in plasma. No significant changes were found in plasma proteasome concentrations or in correlations between proteasome concentrations and ages. However, some autophagy- and/or apoptosis-related genes were differentially expressed. In addition, the network and enrichment analysis showed an interaction between four of the five differentially expressed genes and an association of these genes with the transcriptional process. Considering that the oldest old individuals maintained both the expression of genes linked to the autophagic machinery, and the proteasome levels, when compared with the older group, we concluded that these factors could be considered crucial for successful aging.


RESUMO Considerando o envelhecimento como um fenômeno em que há um declínio nos processos essenciais a sobrevivência celular, investigamos as vias autofágica e proteassômica em três grupos: jovens, idosos e longevos. O perfil de expressão dos genes relacionados à via autofágica foi analisado em sangue periférico, e a quantificação do proteassoma realizada em plasma. Não foram encontradas alterações significativas nas concentrações plasmáticas de proteassoma ou na correlação entre as concentrações de proteassoma e as idades. No entanto, alguns genes relacionados a autofagia e / ou apoptose foram expressos diferencialmente. Além disso, as análises de rede e de enriquecimento mostraram uma interação entre quatro dos cinco genes diferencialmente expressos e a associação desses ao processo transcricional. Considerando que os indivíduos longevos mantiveram tanto a expressão de genes ligados à maquinaria autofágica, quanto os níveis de proteassoma quando comparados aos idosos, concluímos que esses fatores poderiam ser considerados cruciais para o envelhecimento bem-sucedido.


Subject(s)
Humans , Male , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Autophagy/genetics , Aging/genetics , Aging/metabolism , Longevity/genetics , Autophagy/physiology , Brazil , Gene Expression Regulation , Apoptosis/genetics , Proteasome Endopeptidase Complex/genetics , Proteasome Endopeptidase Complex/metabolism , Longevity/physiology
6.
Rev. APS ; 21(4): 504-515, 20181001.
Article in Portuguese | LILACS | ID: biblio-1102557

ABSTRACT

O Sistema Único de Saúde (SUS) amplia o conceito de saúde e orienta a organização do Sistema em princípios doutrinários e operacionais. O desconhecimento da população sobre o acesso democrático e o funcionamento do SUS pode dificultar a resolução dos problemas de saúde. Dessa forma, foi avaliado o nível de conhecimento da população residente em Juiz de Fora ­ MG sobre o sistema, por meio de um estudo transversal realizado na Região Sanitária 9 (RS9), que possui três Unidades de Atenção Primária à Saúde (UAPS). Foi aplicado um questionário semiestruturado, que buscou identificar o conhecimento sobre os aspectos e o funcionamento do SUS em uma amostra de 457 indivíduos, com representação das populações vinculadas às três UAPS, durante agosto de 2014 a julho de 2015. Dentre os resultados, evidenciou-se que 70% dos entrevistados nunca receberam informação relacionada ao funcionamento do SUS, além de existir uma relação inversa entre renda e grau de informação sobre o sistema. Algumas variáveis apresentaram associação estatística significante, como o desconhecimento do caráter público e universal do SUS e o fato de a UAPS e o pronto-socorro ou emergência terem sido as unidades de saúde mais apontadas como primeira escolha, quando precisam de atendimento de saúde. Logo, conclui-se que existe uma falha na disseminação do conhecimento acerca dos serviços oferecidos.


The Single Health System (SUS) amplifies the concept of health and orients the System's organization in doctrinal and operational principles. The population's lack of knowledge in relation to the democratic access and the functioning of the SUS can hinder the resolution of health problems. Thus, the knowledge of the residents in Juiz de Fora - MG about the health system was assessed through a cross-sectional study. These individuals reside in Sanitary District number 9 (RS9), which contains three Primary Health Care Units (UAPS). A semi­structured questionnaire was applied, with the goal of identifying the citizen's information about SUS's aspects and functioning. The study was made with a sample of 457 individuals, representative of the population linked to the three UAPS, from August 2014 to July 2015. Within the results, it was identified that 70% of the interviewees never received information related to the functioning of the SUS. There also exists an inverse relation between income and level of information about the system. Some variables, presented significant statistical association, such as the lack of information about the SUS's public and universal character, and the fact that the UAPS and the emergency centers are designated as the first health units chosen in case of health care needs. Therefore, it is concluded that there is a failure in the dissemination of knowledge about the services offered.


Subject(s)
Unified Health System , Knowledge , Perception , Primary Health Care , Health Evaluation , Health Centers , Health Policy , Health Services Accessibility
7.
Arq. neuropsiquiatr ; 76(4): 247-251, Apr. 2018. tab, graf
Article in English | LILACS | ID: biblio-888382

ABSTRACT

ABSTRACT Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with "unexplained" limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations. Of the 24 patients with dried blood spots, one patient (4.2%) showed low GAA enzyme activity (NaG/AaGIA: 40.42; %INH: 87.22%). In this patient, genetic analysis confirmed two heterozygous mutations in the GAA gene (c.-32-13T>G/p.Arg854Ter). Our data confirm that clinicians should look for late-onset Pompe disease in patients whose clinical manifestation is an "unexplained" limb-girdle weakness even without vacuolar myopathy in muscle biopsy.


RESUMO A doença de Pompe é uma doença hereditária causada pela deficiência da enzima alfa-glicosidase ácida (GAA). Estudo observacional foi realizado, em um único centro, para determinar a prevalência da doença de Pompe de início tardio (LOPD) em uma população brasileira de alto risco, usando teste em gota seca (DBS) como ferramenta principal de triagem para detectar a deficiência da GAA. DBS foi coletado para avaliar a atividade da GAA em 24 pacientes com fraqueza muscular de cinturas "não explicada" sem miopatia vacuolar na biópsia muscular. As amostras com atividade enzimática reduzida foram também submetidas a análise de mutações no gene GAA. Dos 24 pacientes com DBS, baixa atividade da enzima GAA (NaG/AaGIA: 40.42; %INH: 87.22%) foi encontrada em um paciente (4.2%). Nessa paciente, a análise genética confirmou duas mutações em heterozigose composta no gene GAA (c.-32-13T > G/p.Arg854Ter). Nossos resultados confirmam que LOPD deve ser investigada quando a manifestação clínica é uma fraqueza muscular de cinturas "não explicada", mesmo na ausência de miopatia vacuolar na biópsia muscular.


Subject(s)
Humans , Male , Female , Adult , Glycogen Storage Disease Type II/diagnosis , Muscular Dystrophies, Limb-Girdle/diagnosis , Muscular Dystrophies, Limb-Girdle/blood , alpha-Glucosidases/blood , Biopsy , Glycogen Storage Disease Type II/pathology , Glycogen Storage Disease Type II/blood , Prevalence , Muscular Dystrophies, Limb-Girdle/pathology
8.
Nutrire Rev. Soc. Bras. Aliment. Nutr ; 43: 1-7, Mar. 2018. tab, graf
Article in English | LILACS | ID: biblio-881550

ABSTRACT

Background: Mucopoly saccharidosis (MPS) are inborn errors of metabolism (IEM) recognized by deficient enzymes enrolled in glycosaminoglycans catabolism. The resulting accumulation of glycosaminoglycans leads to clinical progressive and generalized manifestations. Considering the severity of MPS and the relevance of establishing dietetic strategies to these patients, the present study was tailored to evaluate the food intake in patients with MPS types I, II, and VI. Methods: Food intake in patients with MPS I, II, and VI was assessed. A descriptive cross-sectional study was conducted. Energetic demand based on estimated necessity of energy equations and reported food intake was analyzed. Total energetic value and nutrients (vitamins B1, B2, C, calcium, iron, and phosphate) were analyzed inaccordance with the standardized interval for macronutrient distribution and the method of apparent adequacy for nutrient intake. Results: Food intake of 17 patients (6- to 30-year-olds) was considered adequate regarding macronutrients. Children and adolescents failed in presenting this parameter. Macronutrients were satisfactory in both groups. Children and adolescents displayed increased intake of iron and vitamins B1 (p< 0.05), B2, B3, and C (p< 0.077)and probability of adequacy≥50%. Calcium and phosphorus intake was greater in adults. Conclusions: The results obtained demonstrated that patients with MPS have nutrition deficiency in their diet, which may directly or indirectly influence the course of the disease.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Feeding Behavior , Mucopolysaccharidoses/diet therapy , Nutritional Status
9.
J. inborn errors metab. screen ; 6: e180007, 2018. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1090964

ABSTRACT

Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis.

10.
An. acad. bras. ciênc ; 89(1): 273-283, Jan,-Mar. 2017. tab, graf
Article in English | LILACS | ID: biblio-886645

ABSTRACT

ABSTRACT Tryptophan is the only precursor of serotonin and mediates serotonergic activity in the brain. Previous studies have shown that the administration of tryptophan or tryptophan depletion significantly alters cognition, mood and anxiety. Nevertheless, the neurobiological alterations that follow these changes have not yet been fully investigated. The aim of this study was to verify the effects of a tryptophan-enriched diet on immunoreactivity to Fos-protein in the rat brain. Sixteen male Wistar rats were distributed into two groups that either received standard chow diet or a tryptophan-enriched diet for a period of thirty days. On the morning of the 31st day, animals were euthanized and subsequently analyzed for Fos-immunoreactivity (Fos-ir) in the dorsal and median raphe nuclei and in regions that receive serotonin innervation from these two brain areas. Treatment with a tryptophan-enriched diet increased Fos-ir in the prefrontal cortex, nucleus accumbens, paraventricular hypothalamus, arcuate and ventromedial hypothalamus, dorsolateral and dorsomedial periaqueductal grey and dorsal and median raphe nucleus. These observations suggest that the physiological and behavioral alterations that follow the administration of tryptophan are associated with the activation of brain regions that regulate cognition and mood/anxiety-related responses.


Subject(s)
Animals , Male , Anxiety/drug therapy , Brain/drug effects , Proto-Oncogene Proteins c-fos/drug effects , Cognition/drug effects , Antidepressive Agents, Second-Generation/administration & dosage , Affect/drug effects , Anxiety/metabolism , Time Factors , Tryptophan/administration & dosage , Brain/metabolism , Immunohistochemistry , Serotonin/metabolism , Reproducibility of Results , Treatment Outcome , Proto-Oncogene Proteins c-fos/metabolism , Rats, Wistar , Dietary Supplements , Diet Therapy/methods
11.
Article in English | LILACS-Express | LILACS | ID: biblio-1090940

ABSTRACT

Abstract Psychiatric disorders are highly prevalent all over the world with a great impact on public health. Altered homocysteine metabolism is implicated in the pathogenesis of many of these disorders, as it can interfere in normal methylation of subcellular components, promote neuroexcitotoxicity, and induce oxidative stress and inflammation. There are cumulative data implicating these mechanisms in the development of autism, schizophrenia, depression, bipolar disorder, and Alzheimer disease. Altered homocysteine metabolism is multifactorial in its origin. On one hand, genetic factors act as predisposing factors through brain development and function, and on the other hand, environmental factors give the opportunity for nutritional interventions improving metabolic status and possibly also clinical parameters. This article provides a review on the association of 1-carbon metabolism and autism, schizophrenia, depression, bipolar disorder, and dementia and goes through studies on the role of different cofactors and metabolites involved in this pathway.

12.
Article in English | LILACS-Express | LILACS | ID: biblio-1090942

ABSTRACT

Abstract Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only the identification of a pathogenic mutation in the GLA gene allows for a definite diagnosis. The hurdle to be overcome in this field is to determine whether a mutation that has never been described determines a ''classic'' or ''nonclassic'' phenotype, because this will have an impact on the decision-making for treatment initiation. Besides the enzymatic determination and GLA gene mutation determination, researchers are still searching for a good biomarker, and it seems that plasma lyso-Gb3 is a useful tool that correlates to the degree of substrate storage in organs. The ideal time for treatment initiation for children and nonclassic phenotype remains unclear.

13.
Clin. biomed. res ; 37(2): 73-80, 2017. graf, tab
Article in English | LILACS | ID: biblio-847904

ABSTRACT

Introduction: The purpose of this study was to investigate the effects of isolated vitamin B6 (VB6 ) supplementation on experimental hyperhomocysteinemia (Hhe) induced by homocysteine thiolactone (HcyT). Methods: Fifteen male Wistar rats were divided into three groups according to their treatment. Animals received water and food ad libitum and an intragastric probe was used to administer water for 60 days (groups: CB6, HcyT, and HB6 ). On the 30th day of treatment, two groups were supplemented with VB6 in the drinking water (groups: CB6 and HB6 ). After 60 days of treatment, homocysteine (Hcy), cysteine, and hydrogen peroxide concentration, nuclear factor (erythroid-derived 2)-like 2 (NRF2) and glutathione S-transferase (GST) immunocontent, and superoxide dismutase (SOD), catalase (CAT), and GST activities were measured. Results: The HcyT group showed an increase in Hcy concentration (62%) in relation to the CB6 group. Additionally, GST immunocontent was enhanced (51%) in the HB6 group compared to the HcyT group. Also, SOD activity was lower (17%) in the HB6 group compared to the CB6 group, and CAT activity was higher in the HcyT group (53%) compared to the CB6 group. Ejection fraction (EF) was improved in the HB6 group compared to the HcyT group. E/A ratio was enhanced in the HB6 group compared to the CB6 group. Correlations were found between CAT activity with myocardial performance index (MPI) (r = 0.71; P = 0.06) and E/A ratio (r = 0.6; P = 0.01), and between EF and GST activity (r = 0.62; P = 0.02). Conclusions: These findings indicate that isolated VB6 supplementation may lead to the reduction of Hcy concentration and promotes additional benefits to oxidative stress and heart function parameters (AU)


Subject(s)
Animals , Rats , Heart/drug effects , Hyperhomocysteinemia/drug therapy , Oxidative Stress/drug effects , Vitamin B 6/therapeutic use , Cardiovascular Diseases/etiology , Models, Animal , Rats, Wistar
14.
Rev. bras. cineantropom. desempenho hum ; 16(5): 533-544, Sept-Oct/2014. tab, graf
Article in English | LILACS | ID: lil-722253

ABSTRACT

The aim of this crossover study was to evaluate the effect of a grape concentrate (test drink [TD]) on oxidative stress markers (thiobarbituric acid reactive substances [TBARS], catalase [CAT], superoxide dismutase [SOD], and glutathione [GSH]). Six triathletes had their physical fitness, body fat composition (%BF) and food intake evaluated. Afterwards, the athletes received two doses of 300 mL of the TD (45.8g of polyphenols/kg) or a placebo drink (PL), at breakfast and after a training session (100 km of cycling, 6 km of running and 1.5 km of swimming). Blood samples (5 ml) were collected after an overnight fasting, immediately after exercise, and one hour after exercise. The triathletes presented the following characteristics (mean and standard-deviation): 43.8±10.2 years old, VO2máx 45±5.15 mL/kg/min, %BF 13.6±4.2 %, training 270.8±87.1 km/week, 3.1±1.88 hours/training/day. There was a significant increase in SOD from the 1st to the 2nd (p=0.027) and 3rd (p=0.02) blood tests, in response to exercise, regardless of the drink consumed. One hour after exercise, the increase in glutathione values was greater when the PL was consumed (27.5%) in relation to the TD intake (1.8%). In both tests, exercise increased TBARS values; however, when PL was consumed, subjects' values were higher (PL=2.5±1.1 nmol/ml vs. BT=1.77±1.3 nmol/ml). When PL was consumed, mean CAT values (BT=34.2±6.9 U/mgHb vs. PL=24.6±12.5 U/mgHb) reduced from the 1st to the 2nd blood test (28.6%). TBARS, CAT and GSH values suggest that the TD presents potential to modulate exercise-induced oxidative stress.


O objetivo deste estudo crossover foi avaliar o efeito de um concentrado de uva (bebida teste - BT) sobre biomarcadores do estresse oxidativo (substâncias reativas ao ácido tiobarbitúrico - TBARS, catalase - CAT, superóxido dismutase - SOD e glutationa - GSH). Seis triatletas do sexo masculino foram avaliados quanto à aptidão física, percentual de gordura (%G) e ingestão alimentar. Posteriormente, em duas ocasiões, os atletas receberam duas doses de 300 ml de BT (45,8g de polifenóis/kg) ou bebida placebo (PL) no desjejum e após uma sessão de treinamento (100 km de ciclismo, 6 km de corrida e 1,5 km de natação). Amostras de sangue (5 ml) foram coletadas em jejum, imediatamente após o exercício e 1h após o mesmo. Caracterização da amostra: idade: 43,8±10,2 anos, VO2máx: 45±5,15 ml/kg/min, %G: 13,6±4,2%, volume de treino: 270,8±87,1 km/semana e 3,1±1,88 horas/treino/dia. Houve aumento significativo da atividade de SOD da 1ª para as 2ª (p=0,027) e 3ª coletas (p=0,02) em resposta ao exercício, independente da bebida consumida. Os valores de GSH foram superiores 1 hora após o exercício quando houve consumo do PL (27,5%) em relação ao consumo da BT (1,8%). Ainda, o exercício elevou as concentrações de TBARS, mas no grupo PL os valores médios foram superiores (PL=2,5±1,2 nmol/ml vs. BT=1,77±1,3 nmol/ml). Em relação à atividade da CAT, os valores médios (BT=34,2±6,9 U/mgHb vs. PL=24,6±12,5 U/mgHb) foram menores quando comparadas 1ª e 2ª coletas (28,6%) para os atletas que consumiram PL. Os resultados referentes à concentração de TBARS, atividade de CAT e níveis de GSH sugerem que a BT modulou o estresse oxidativo induzido pelo exercício.

15.
Psychol. neurosci. (Impr.) ; 7(2): 125-130, Jan.-June 2014. ilus
Article in English | LILACS | ID: lil-718327

ABSTRACT

The present study evaluated the effects of postnatal intermittent hypoxia on locomotor activity and neuronal cell survival in early adulthood rats. During a critical period of brain development on postnatal day (PD) 7-11, male rat pups were exposed to intermittent hypoxia and randomly assigned to three experimental groups: (1) intermittent hypoxia, (2) normoxia, and (3) control (unhandled). One and a half months later on PD56, a behavioral test was conducted, and cell survival was estimated in the hilus, dental gyrus, and CA1 and CA3 subfields of the hippocampus, nucleus accumbens shell and core, dorsal and ventral striatum, and prefrontal cortex. Our results showed that intermittent hypoxia produced hyperactivity that correlated well with psychomotor agitation observed in patients with schizophrenia. Moreover, post-hypoxic rats exhibited a reduction of the number of neurons in the hilar region of the hippocampus and dorsal striatum, structures that have been neuropathologically associated with schizophrenia.These findings suggest that intermittent hypoxia can modify the pattern of locomotor activity and selectively affect neurons in rats tested in early adulthood...


Subject(s)
Animals , Rats , Cell Hypoxia , Cell Survival , Motor Activity , Schizophrenia
16.
Clinics ; 68(4): 449-455, abr. 2013. tab, graf
Article in English | LILACS | ID: lil-674234

ABSTRACT

OBJECTIVES: The aim of this study was to investigate neuropsychological performance and biomarkers of oxidative stress in patients with obstructive sleep apnea and the relationships between these factors. METHODS: This was an observational, cross-sectional study of 14 patients (36.0±6.5 years old) with obstructive sleep apnea and 13 controls (37.3±6.9 years old). All of the participants were clinically evaluated and underwent full-night polysomnography as well as neuropsychological tests. Blood samples were used to assay superoxide dismutase, catalase, glutathione and homocysteine, as well as vitamins E, C, B11 and B12. RESULTS: The patients performed poorly relative to the controls on several neuropsychological tests, such as the attention test and tests of long-term memory and working memory/executive function. They also had lower levels of vitamin E (p<0.006), superoxide dismutase (p<0.001) and vitamin B11 (p<0.001), as well as higher concentrations of homocysteine (p<0.02). Serum concentrations of vitamin C, catalase, glutathione and vitamin B12 were unaltered. Vitamin E levels were related to performance in the backward digit span task (F = 15.9; p = 0.002) and this correlation remained after controlling for age and body mass index (F = 6.3, p = 0.01). A relationship between superoxide dismutase concentrations and executive non-perseveration errors in the Wisconsin Card Sorting Test (F = 7.9; p = 0.01) was also observed. CONCLUSIONS: Decreased levels of antioxidants and lower performance on the neuropsychological tasks were observed in patients with obstructive sleep apnea. This study suggests that an imbalance between antioxidants and pro-oxidants may contribute to neuropsychological alterations in this patient population. .


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Cognition/physiology , Oxidative Stress , Sleep Apnea, Obstructive/physiopathology , Antioxidants/analysis , Body Mass Index , Biomarkers/blood , Continuous Positive Airway Pressure , Cross-Sectional Studies , Homocysteine/blood , Memory, Short-Term , Neuropsychological Tests , Polysomnography , Sleep Apnea, Obstructive/blood , Sleep Apnea, Obstructive/psychology , Superoxide Dismutase/blood , Vitamin B Complex/blood , Vitamin E/blood
17.
Clinics ; 67(6): 565-572, 2012. ilus, tab
Article in English | LILACS | ID: lil-640204

ABSTRACT

OBJECTIVES: This study evaluated the effect of Continuous Positive Airway Pressure treatment on oxidative stress parameters and the quality of life of elderly patients with obstructive sleep apnea syndrome. METHODS: In total, 30 obstructive sleep apnea syndrome patients and 27 subjects without obstructive sleep apnea syndrome were included in this study. Both groups underwent quality of life and oxidative stress evaluations at baseline and after six months. Polysomnography was performed in both groups at baseline and a second time in the obstructive sleep apnea syndrome group after six months of Continuous Positive Airway Pressure treatment. All of the variables were compared between the control and obstructive sleep apnea syndrome groups in this prospective case-control study. RESULTS: The baseline concentrations of the antioxidant enzyme catalase were higher in the obstructive sleep apnea syndrome group than the control group. After Continuous Positive Airway Pressure treatment, the obstructive sleep apnea syndrome group exhibited a reduction in the level of oxidative stress, as indicated by a decrease in the level of lipid peroxidation measured by the malondialdehyde (MDA) concentration [pre: 2.7 nmol malondialdehyde/mL (95% 1.6-3.7) vs. post: 1.3 nmol MDA/mL (0.7-1.9), p<0.01]. Additionally, improvements were observed in two domains covered by the SF-36 questionnaire: functional capacity [pre: 77.4 (69.2-85.5) vs. post: 83.4 (76.9-89.9), p = 0.002] and pain [pre: 65.4 (52.8-78.1) vs. post: 77.8 (67.2-88.3), p = 0.004]. CONCLUSION: Our study demonstrated that the use of Continuous Positive Airway Pressure to treat obstructive sleep apnea syndrome in elderly patients reduced oxidative stress and improved the quality of life.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Continuous Positive Airway Pressure , Oxidative Stress , Quality of Life , Sleep Apnea, Obstructive/therapy , Epidemiologic Methods , Polysomnography , Sleep Apnea, Obstructive/blood , Sleep Apnea, Obstructive/physiopathology , Time Factors , Treatment Outcome
18.
Cad. saúde pública ; 27(5): 975-984, maio 2011. graf, tab
Article in Portuguese | LILACS | ID: lil-588983

ABSTRACT

Este estudo objetivou investigar a duração do sono e fatores associados em escolares trabalhadores e não trabalhadores. Foram coletadas informações sobre o padrão do ciclo vigília/sono de 863 adolescentes de 10 a 19 anos em escolas de São Paulo, Brasil. Análises ajustadas foram aplicadas para comparação da duração do sono entre trabalhadores e não trabalhadores. O porcentual de adolescentes trabalhadores foi de 18,4 por cento e 52 por cento dos jovens que trabalhavam apresentaram oito ou menos horas de sono. A prevalência de baixa duração do sono foi maior nos trabalhadores dos sexos masculino (p = 0,017) e feminino (p < 0,001). Os estudantes trabalhadores apresentaram menor duração do sono mesmo com ajuste pela classe socioeconômica (p < 0,001). Apesar de existirem mais trabalhadores no turno da noite, no modelo ajustado pelo sexo e nível socioeconômico, os estudantes trabalhadores do turno da tarde apresentaram maior prevalência de baixa duração do sono (RP = 2,53; IC95 por cento: 1,68-4,12).

The aim of this study was to investigate the duration of sleep and associated factors in working and non-working students. Data were analyzed on the sleep-wake cycle in 863 teenage students in São Paulo, Brazil. Adjusted analyses were performed to compare sleep duration in working and non-working students. 18.4 percent of the group worked, and 52 percent of the working students slept eight hours or less per night. Prevalence of short sleep duration was higher in working students of both sexes (males, p = 0.017; females, p < 0.001). Working students showed short sleep duration in the analysis adjusted for socioeconomic status, but short sleep was more frequent in older adolescents (p = 0.004) and in lower (p = 0.001) and middle (p = 0.011) socioeconomic classes. Although more working students were in night school, in the model adjusted for gender and socioeconomic status, working students in afternoon courses showed higher prevalence of short sleep duration (PR = 2.53; 95 percentCI: 1.68-4.12).

Subject(s)
Adolescent , Child , Female , Humans , Male , Students , Sleep/physiology , Work , Work Schedule Tolerance/physiology , Brazil , Prevalence , Socioeconomic Factors , Surveys and Questionnaires , Time Factors
19.
Rev. bras. ter. intensiva ; 22(4): 327-332, out.-dez. 2010. graf, tab
Article in Portuguese | LILACS | ID: lil-572682

ABSTRACT

OBJETIVO: Homocisteína e a sepse estão ambos associados à inflamação e ativação endotelial. O objetivo desse estudo foi verificar se o nível plasmático de homocisteína está relacionado à gravidade do quadro séptico. MÉTODOS: Estudo clínico, prospectivo e observacional, incluindo pacientes com sepse grave ou choque séptico com menos de 48 horas de instalação da disfunção orgânica. Os níveis de homocisteína foram determinados no dia da inclusão no estudo e nos dias 3, 7, 14. A associação entre homocisteína com o escore Sequential Organ Failure Assessment (SOFA) foi avaliada pelo teste de Sperman e com mortalidade pelo teste de Mann-Whitney. Os resultados foram considerados significativos se p<0,05. RESULTADOS: Foram incluídos 21 pacientes e feitas 60 coletas para avaliação da homocisteina total (mediana de 6,92 (5,27 - 9,74 μmol/l). O teste de correlação Spearman não mostrou associação entre homocisteina e SOFA (r = -0,15 e p = 0,26). Também não foi encontrada correlação da medida de homocisteína na data de admissão do estudo e a diferença do SOFA obtido no 3º dia e o SOFA da admissão (deltaSOFA) (r = 0,04 e p = 0,87). A variação da homocisteína do 3º dia e a admissão no estudo (deltaHmc) e a variação do SOFA no mesmo período não estavam correlacionadas (r = -0,11 e p = 0,66). A homocisteina da admissão não se correlacionou com mortalidade na UTI (p=0,46) ou com a mortalidade hospitalar.(p=0,13). Mesmo quando foi utilizado o deltaHmc não houve correlação (p=012 e p=0,99, respectivamente). CONCLUSÃO: O nível basal de homocisteína ou sua variação nos primeiros dias da disfunção não estiveram relacionadas com a piora dos parâmetros funcionais dos sistemas orgânicos ou mortalidade nos pacientes sépticos.


OBJECTIVE: Homocysteine and sepsis are both associated with inflammation and endothelial activation. Therefore this study was aimed to evaluate if the plasma homocystein level is related with the septic patient clinical severity. METHODS: Severe sepsis or septic shock patients, with less than 48 hours from organ dysfunction start, were admitted to this prospective observational study. Homocysteine levels were determined by the time of study admission and then on the Days 3, 7 and 14. The homocysteine association with the Sequential Organ Failure Assessment (SOFA) score was evaluated using the Sperman test, and its association with mortality using the Mann-Whitney test. A p<0.05 value was considered statistically significant. RESULTS: Twenty one patients were enrolled, and 60 blood samples were collected to measure total homocysteine [median 6.92 (5.27 - 9.74 μmol/L)]. The Sperman correlation test showed no association between homocysteine and SOFA ( r=0.15 and p=0.26). Also no correlation was found for the homocysteine level by the study admission time and the difference between the Day 3 SOFA score versus by study admission (deltaSOFA) (r=0.04 and p=0.87). Homocysteine variation between the Day 3 and the study admission (deltaHmc) and SOFA score variation in the same period were not correlated (r=-0.11 and p=0.66). Homocysteine by the study admission was not correlated with death in intensive care unit rate (p= 0.46) or in-hospital death rate (p = 0.13). This was also true for deltaHmc (p=0.12 and p=0.99, respectively). CONCLUSION: Baseline homocysteine levels and its variations within the first dysfunction days were not related with septic patients' worsened organ function parameters or mortality.

20.
Einstein (Säo Paulo) ; 8(2)abr.-jun. 2010. graf, tab
Article in English, Portuguese | LILACS | ID: lil-550961

ABSTRACT

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 mumol/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.


Objetivo: Comparar os resultados da concentração de homocisteína usando os métodos de quimioluminescência e HPLC em amostras de crianças escolares. Determinar os valores de referência desse grupo etário e avaliar o valor prognóstico real da homocisteína em crianças saudáveis. Métodos: Um estudo prospectivo observacional foi executado para determinar os níveis de homocisteína usando dois ensaios diversos, o HPLC e a quimioluminescência, em 185 amostras de crianças em idade escolar moradoras da cidade de Santo André, que não apresentassem doenças crônicas ou inflamatórias, na ausência de desenvolvimento puberal. Resultados: Os resultados foram apresentados em percentis e os valores de referência foram determinados para esse grupo etário (7-9 anos). As concentrações de homocisteína variaram de 2,0 a 9,9 miumol/l (r = 0,821 e p < 0,001). Conclusões: Verificamos que o método da quimioluminescência é comparável ao método HPLC quando as técnicas são usadas para detectar a homocisteína em crianças em idade escolar. Houve importante correlação entre os dois métodos, o que permite a investigação desse aminoácido como um fator de risco para doenças cardíacas.


Subject(s)
Humans , Male , Female , Child , Chromatography, High Pressure Liquid , Homocysteine , Luminescent Measurements
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