Polimorfismo de proteína 5, 10-metilentetrahidrofolatoreductasa en población venezolana / Polymorphisms proteína 5, 10-metilentetrahidrofolatoreductasa in venezuelan people

El folato es un miembro del grupo de la vitamina B y está relacionado con enfermedades crónicas como anemia megaloblástica, enfermedad cardiovascular, cáncer, disfunción cognitiva y riesgo de defectos del tubo neural. La proteína 5,10-metilentetrahidrofolato reductasa (MTHFR) juega un papel clave en el metabolismo del folato mediante la síntesis de nucleótidos y reacciones de metilación. El gen MTHFR se encuentra en el cromosoma 1 (1p36.3), y se han descrito dos alelos comunes, el alelo C677T (termolábil) y el alelo A1298C.El objetivo de este estudio es evaluar la distribución de los polimorfismos genéticos en MTHFR C677T y A1298C en la población venezolana. METODOS: estudio de tipo transversal, descriptivo, experimental y correlacional Las muestras de sangre se colectaron en 314 donantes no emparentados y sanos de la población. Los polimorfismos de un solo nucleótido(SNP) MTHFR 677C>T y 1298A>C se analizaron mediante polimorfismo de longitud de fragmento de restricción de reacción en cadena de polimerasa (PCR-RFLP). El desequilibrio de ligamiento (LD) entre pares de SNP se calculó mediante la prueba X. usando Prism 5 (GraphPad software, Inc). RESULTADOS: Encontramos mayor frecuencia genotípica de heterocigotos para el polimorfismo MTHFR C677T en la población general venezolana, con excepción del grupo caucásico. El polimorfismo MTHFR A1298C en el 70%de la población de estudio es homocigoto de tipo salvaje, encontrándose una baja frecuencia de homocigoto mutado. CONCLUSIONES: Se encontraron diferencias significativas entre grupos étnicos, destacando la importancia del genotipado racial de estos polimorfismos en la población venezolana(AU)

Folate is a member of the vitamin B and it has also been indicated that may be related to chronic diseases such as megaloblastic anemia, cardiovascular disease, cognitive dysfunction and risk of neural tube. Methylenetetrahydro folatereductase (MTHFR) is a key enzyme of folate pathway by nucleotide synthesis and methylation reactions. Several polymorphisms were reported in MTHFR gene but C677Tand A1298 polymorphism are most studied and these have been reported to be risk factor for several diseases/disorders. The present study was designed to determine the frequency of MTHFR polymorphisms in Venezuelan healthy population. METHODS: The blood samples were collected from 314 unrelated and healthy donors from population. Both the MTHFR 677C>T and 1298A>C single nucleotide polymorphisms (SNPs) were analyzed by Polymerase chainreaction-restriction fragment length polymorphism (PCR-RFLP). Linkage disequilibrium (LD) between pair of SNPs was calculated through the .. test using Prism 5 (GraphPad sftoware, Inc). RESULTS: We find higher genotypic frequency of heterozygotes for the MTHFR C677T polymorphism in the Venezuelan general population, with the exception of the Caucasian group. MTHFR A1298C polymorphism in 70%of the study population is homozygous wild type, finding alow frequency of homozygous mutated. CONCLUSIONS: Significant differences between ethnic groups were found,highlighting the importance of racial genotyping of these polymorphisms in the Venezuelan population(AU)

Comparison of sublingual and intramuscular administration of vitamin b12 for the treatment of vitamin b12 deficiency in children

Abstract Background: In most countries, contrary to some disadvantages, such as pain, relatively higher cost, and poor adherence to treatment, intramuscular (IM) route is still the primary treatment method for Vitamin B12 (VB12) deficiency. In recent years, because of these difficulties, new treatment methods are being sought for VB12 deficiency. Objectives: We aimed to compare sublingual (SL) and IM routes of VB12 administration in children with VB12 deficiency and to compare the efficacy of methylcobalamin and cyanocobalamin therapy in these children. Methods: This retrospective study comprised 129 patients with VB12 deficiency (serum Vitamin 12 level ≤ 200 pg/mL) aged 5-18 years. Based on the formulations of Vitamin 12, we divided the patients into three treatment groups as IM cyanocobalamin, SL cyanocobalamin, and SL methylcobalamin. Results: After Vitamin 12 therapy, serum Vitamin 12 levels increased significantly in all patients, and there was a statistically significant difference between the treatment groups (p < 0.05). Conclusions: SL cyanocobalamin and methylcobalamin were found as effective as IM cyanocobalamin for children with Vitamin 12 deficiency in correcting serum Vitamin 12 level and hematologic abnormalities.

Percepções de gestantes acerca do cuidado pré-natal na atenção primária à saúde / Percepciones de gestantes acerca del cuidado prenatal en la atención primaria a la salud / Perceptions of pregnant women about prenatal care in primary health care

Resumo OBJETIVO Compreender as percepções das gestantes acerca do cuidado recebido durante o pré-natal, no âmbito da atenção primária à saúde. MÉTODO Estudo qualitativo, baseado na Grounded Theory. A coleta de dados foi realizada de agosto a dezembro de 2016, através de entrevista semiestruturada com 12 gestantes que realizaram acompanhamento pré-natal na atenção primária do município de Florianópolis/SC/Brasil. A coleta e análise dos dados foram realizadas concomitantemente. Na análise de dados utilizou-se a codificação aberta e axial. RESULTADOS Foram elaboradas três categorias, sendo elas: O cuidado antes e durante a gestação. Participação em grupos de gestantes e, Cuidado de qualidade durante a gestação. CONCLUSÃO As percepções das gestantes acerca do cuidado recebido durante o pré-natal estão relacionadas à atenção dispensada, ao acolhimento humanizado, consideração da subjetividade da gestante e amparo nos momentos difíceis que tornam este período satisfatório.

Resumen OBJETIVO Comprender las percepciones de las gestantes acerca del cuidado recibido durante el prenatal, en el ámbito de la atención primaria a la salud. MÉTODO Estudio cualitativo, basado en la Grounded Theory. La recolección de datos fue realizada de agosto a diciembre de 2016, a través de entrevista semiestructurada con 12 gestantes en la atención primaria a la salud del municipio de Florianópolis/SC/Brasil. La recolección y análisis de los datos se realizaron concomitantemente. En el análisis de datos se utilizó la codificación abierta y axial. RESULTADOS Fueron elaboradas tres categorías, siendo ellas: El cuidado antes y durante la gestación, Participación en grupos de gestantes y, Cuidado de calidad durante la gestación. CONCLUSIÓN Las percepciones de las gestantes acerca del cuidado recibido durante el prenatal están relacionadas la atención dispensada, acogida humanizada, consideración de la subjetividad de la gestante y amparo en los momentos difíciles que hacen este período satisfactorio.

Abstract OBJECTIVE To understand the perceptions of pregnant women about the care received during prenatal care, in the field of primary health care. METHOD Qualitative study, based on Grounded Theory. Data collection was performed from August to December 2016, through a semi-structured interview with 12 pregnant women who received prenatal care in the city of Florianópolis/SC/Brazil. Data collection and analysis were performed concomitantly. Data analysis was performed using open and axial coding. RESULTS Three categories were elaborated: Care before and during gestation, Participation in groups of pregnant women, and Quality care during pregnancy. CONCLUSION The perceptions of the pregnant women about the care received during the prenatal care is related to the care given, humanized reception, consideration of the pregnant woman's subjectivity and support in the difficult moments that make this period satisfactory.

Encefalopatía de Wernicke secundario a hiperémesis gravídica: la importancia del diagnóstico temprano / Wernicke encephalopathy secondary to hyperemesis gravidarum: importance of early diagnosis

RESUMEN Introducción: La hiperémesis gravídica (HG) es una condición frecuente en el embarazo, que puede resultar en complicaciones potencialmente letales como la encefalopatía de Wernicke (EW), síndrome que al ser reconocido y tratado tardíamente puede traducirse en una alta morbi-mortalidad materna y fetal. Objetivo: Describir el primer caso de EW secundario a HG en Colombia y realizar una revisión de la literatura publicada sobre su diagnóstico y tratamiento. Materiales y métodos: Se describe un caso de EW secundario a HG en el que se brindó un manejo interdisciplinario. Se realizó una revisión de la literatura con los términos "encefalopatía de Wernicke", "hiperémesis gravídica" y "embarazo" incluyendo reportes de casos, series de casos, artículos de revisión, investigaciones originales o cartas al editor en inglés, español y francés, en donde se analizaron el método y tiempo del diagnóstico, pauta de tratamiento y estado funcional final. Resultados: Se incluyeron 69 publicaciones y se identificaron 89 casos. En 23 de ellos se presentó pérdida gestacional, sólo en el 12,4% de los casos se reportó el nivel de tiamina, de los cuales en el 90% se encontraba disminuido y de los casos en donde se reportó estado funcional final en el 5,9% la gestante falleció. Conclusión: La EW secundaria a HG es una complicación potencialmente letal. Debe sospecharse ante cualquier alteración neurológica e historia de emesis persistente. El diagnóstico y tratamiento oportuno interdisciplinario son fundamentales para disminuir el riesgo de secuelas que limitan la capacidad funcional con alto impacto en la calidad de vida.

ABSTRACT Introduction: Hyperemesis gravidarum (HG) is a frequent condition in pregnancy, which can result in potentially lethal complications such as Wernicke encephalopathy (WE), a syndrome that can be translated into a high maternal and fetal morbidity and mortality if it is recognized and treated late. Objective: To describe the first case of WE due to HG in Colombia and to review the published literature about its diagnosis and treatment. Materials and methods: We describe a case of WE due to HG with an interdisciplinary approach. A review of the literature was performed with the terms "Wernicke's encephalopathy", "hyperemesis gravidarum" and "pregnancy" including case reports, case series, review articles, original investigations or letters to the editor in English, Spanish and French, where the method and time of the diagnosis, treatment regimen and sequelae were analyzed. Results: Sixty-nine publications were included and 89 cases were identified. In 23 of them had a gestational loss, only in 12.4% of the cases the thiamine level was reported, in which 90% was diminished and in the cases where the final functional status was reported in 5.9% of the pregnant woman died. Conclusion: WE due to HG is a potentially lethal complication. In any neurological disturbance and history of persistent emesis it should be suspected. Timely interdisciplinary diagnosis and treatment are essential to reduce the risk of sequelae that limit functional capacity with a high impact on quality of life.

Neuropatia óptica tóxica por inalação de metanol / Optic neuropathy toxic after methanol inhalation

Resumo A intoxicação por metanol é um evento considerado raro, principalmente quando feita por via inalatória. Retratou-se neste presente estudo um relato de caso de um paciente que desenvolveu neurite óptica tóxica após exposição ao metanol e ácido acético por via inalatória em seu ambiente de trabalho. Foi descrito sobre as terapias obtidas na literatura, bem como as manifestações clínicas e o manejo a este paciente.

Abstract The methanol toxicity is considered rare event , especially when taken by inhalation . It was portrayed in the present study a case report of a patient who developed toxic optic neuritis after exposure to methanol and acetic acid by inhalation in the workplace . It was described for the therapies from the literature as well as the clinical manifestations and management in this patient.

The mortality rate after hospital discharge in patients with myelomeningocele decreased after implementation of mandatory flour fortification with folic acid / Redução da taxa de mortalidade após a alta hospitalar em pacientes com mielomeningocele depois da implementação da fortificação obrigatória das farinhas com ácido fólico

ABSTRACT Objective: To evaluate the mandatory folic acid fortification of flour on mortality rates after the hospital discharge of children born with myelomeningocele, the most affected age group and the most frequent cause of death. Methods: A retrospective study of 383 children born with myelomeningocele from January 1990 to December 2013 in a high-fetal-risk reference hospital. Results: A total of 39 patients died (10.1%),of which 23 (6%) died after discharge. Most children who died were younger than 12 months of age. The most frequent cause of death was infection of the central nervous system, followed by urinary tract sepsis and infections of the respiratory system. Symptomatic Chiari II malformation was the most frequent comorbidity factor. Conclusion: Although there was no significant difference in infant mortality before and after folic acid fortification, there was a significant reduction in deaths after hospital discharge in babies born after implementation of mandatory folic acid fortification

RESUMO Objetivo: Avaliar a fortificação obrigatória de farinhas com ácido fólico nas taxas de mortalidade após a alta hospitalar de crianças nascidas com mielomeningocele, a faixa etária mais atingida e a causa mais freqüente de morte. Métodos: Estudo retrospectivo de 383 crianças nascidas com mielomeningocele de janeiro de 1990 a dezembro de 2013, em um hospital de referência de alto risco fetal. Resultados: Um total de 39 pacientes morreram (10,1%), dos quais 23 (6%) morreram após a alta. A maioria das crianças que morreram não alcançaram 12 meses de idade. A causa mais frequente de morte foi infecção do sistema nervoso central, seguido por sépsis, infecções do trato urinário e do sistema respiratório. A malformação de Chiari Tipo II foi a comorbidade mais freqüente. Conclusão: Apesar de não haver diferença significativa na frequência de mortalidade de recém-nascidos, antes e depois da fortificação obrigatória com ácido fólico, houve uma redução significativa no número de mortes após a alta hospitalar em bebês nascidos após a implementação da fortificação obrigatória das farinhas com ácido fólico.

Polimorfismo do gene timidilato sintase e nível plasmático total de homocisteína em um grupo de pacientes turcos com artrite reumatoide: relação com a atividade da doença e toxicidade ao metotrexato / Thymidylate synthase genetic polymorphism and plasma total homocysteine level in a group of Turkish patients with rheumatoid arthritis: relationship with disease activity and methotrexate toxicity

Resumo Introdução: Relata-se que o polimorfismo do gene timidilato sintase (TS) e a homocisteína têm relação com o metabolismo do metotrexato (MTX), com achados conflitantes. O objetivo deste estudo foi determinar os níveis de homocisteína e a frequência de polimorfismos de repetição tripla (TS3R) e dupla (TS2R) do gene TS em um grupo de pacientes turcos com AR e avaliar sua associação com a toxicidade ao MTX e a atividade da doença. Métodos: Foram incluídos no estudo 64 pacientes com AR e 31 indivíduos no grupo controle, com média de 48,7 ± 12,5 e 46,2 ± 13,4 anos. Foram obtidas as características demográficas e foi registrado o número de pacientes que relataram efeitos adversos ao MTX no grupo AR. Foram analisados os níveis de homocisteína e os polimorfismos TS2R/TS3R. Foi determinada a distribuição de genótipos de acordo com a toxicidade ao MTX e a atividade da doença. Resultados: Os dados demográficos foram semelhantes entre os pacientes e controles. Todos faziam suplementação de ácido fólico a uma dose média de 5 mg/semana. Dos 64 pacientes, 36 apresentaram efeitos adversos ao tratamento com MTX. Encontrou-se uma frequência de polimorfismos TS2R e TS3R semelhante nos grupos AR e controle. Encontrou-se que os polimorfismos TS2R e TS3R eram semelhantes em pacientes com e sem eventos adversos relacionados com o MTX. O nível médio de homocisteína também foi similar em pacientes com e sem polimorfismo do gene TS, mas era mais elevado (12,45 μmol/L vs. 10,7 μmol/L) em pacientes com do que sem efeitos adversos relacionados com o MTX. O nível médio de homocisteína se correlacionou com o VHS no grupo AR. Conclusões: Os níveis de homocisteína podem afetar a atividade da doença e a toxicidade ao MTX, mas os polimorfismos 2 R e 3 R no gene TS não se correlacionaram com a toxicidade ao MTX em pacientes com AR que recebem suplementação de ácido fólico. São necessários mais estudos para esclarecer os polimorfismos em outras enzimas que podem ser responsáveis pela toxicidade ao MTX em pacientes com AR.

Abstract Background: The polymorphism of thymidylate synthase (TS) gene and homocysteine are reported to have a relationship to methotrexate (MTX) metabolism, with conflicting results. The aim of this study was to determine homocysteine levels and the frequency of TS gene triple repeat (TS3R) and double repeat (TS2R) polymorphisms in a group of Turkish RA patients and evaluate its association with MTX toxicity and disease activity. Methods: Sixty-four patients with RA and 31 control subjects with a mean age of 48.7 ± 12.5 and 46.2 ± 13.4 years were enrolled for the study. Demographic characteristics were obtained and a number of patients with MTX-related adverse affects were recorded in the patient group. The homocysteine levels and TS2R/TS3R polymorphisms of the TS gene were analyzed and the distribution of genotypes according to MTX toxicity and disease activity was determined. Results: The demographic properties were similar between the patient and control subjects. Folic acid supplementation with a mean dose of 5 mg folic acid/week was present in all patients. Thirty-six of the 64 patients showed adverse effects to MTX treatment. The respective frequency of TS2R and TS3R polymorphisms was found to be similar in the patient and control groups. TS2R and TS3R gene polymorphisms were found to be similar in patients with and without MTX-related adverse events. The mean homocysteine level was also similar in patients with and without TS gene polymorphism, but was found to be higher (12.45 μmol/L vs 10.7 μmol/L) in patients with MTX-related side effects than in patients without side effects. The mean level of homocysteine was correlated with levels of ESR in the patient group. Conclusions: In conclusion, homocysteine levels might affect the disease activity and toxicity of MTX but 2R and 3R polymorphisms in the TS gene were not related with MTX-related toxicity in RA patients receiving folate supplementation. Further studies are needed to illuminate the polymorphisms in other enzymes that might be responsible for the MTX toxicity in patients suffering from RA.

Folic acid intake by pregnant women from Vale do Jequitinhonha, Brazil, and the contribution of fortified foods / Consumo de ácido fólico por gestantes do Vale do Jequitinhonha, Brasil, e a contribuição dos alimentos fortificados

The folate deficiency can result in irreversible health damage, such as the neural tube defects. The aim of this article is to determine the folate intake of pregnant women in Vale do Jequitinhonha, Minas Gerais state, Brazil, one of the poorest regions in the world. A descriptive, cross-sectional study was done in 2013 with 492 pregnant women attending the basic health units run by the public health service (Sistema Único de Saúde, SUS) in 15 municipalities. A standard questionnaire was used to gather the data, which included socioeconomic indicators and a food frequency questionnaire. The data were analyzed and compared statistically based on prevalence ratios and 95% confidence intervals. The prevalence of inadequate folate intake was associated with some socioeconomic factors: it was higher amongst the low income and less educated women, in younger women and those who had fewer meals per day. The prevalence of inadequate folate intake in the diet was 94.7% when the contribution of food fortification was not considered, 49.2% taking into account fortified foods, and 17.1% considering food folate, fortified foods, and supplementation with folic acid. We conclude that fortifying foods with folic acid at the current levels reduces the inadequacy of folate intake in the diet, but not enough to assure safe levels and to meet the nutritional requirements of pregnant women in Brazil.

A deficiência de folato pode acarretar prejuízos irreversíveis como os defeitos do tubo neural. O objetivo deste artigo é determinar o padrão de consumo de folato por gestantes no Vale do Jequitinhonha, Minas Gerais, Brasil, uma das regiões mais pobres do mundo. A pesquisa descritiva do tipo transversal foi realizada com 492 gestantes atendidas em Unidades Básicas de Saúde do SUS em 15 municípios do Vale do Jequitinhonha no ano de 2013. Para a coleta de dados foi utilizado um questionário padronizado, que inclui um questionário socioeconômico e inquérito de frequência alimentar. Os dados foram analisados e comparados estatisticamente através de razão de prevalências e intervalo de confiança de 95%. A prevalência de consumo insuficiente de folato mostrou-se associada com alguns fatores socioeconômicos: foi maior em gestantes com baixa renda, de baixa escolaridade e em gestantes mais jovens e que realizavam menos refeições por dia. Observou-se que a prevalência de consumo insuficiente de folato na dieta foi de 94,7% desconsiderando a inclusão de alimentos fortificados, 49,2% considerando a dieta com alimentos fortificados e 17,1% considerando a dieta, a fortificação e a suplementação medicamentosa com ácido fólico. Conclui-se que a fortificação de alimentos com ácido fólico nos níveis atuais reduz a inadequação do consumo na dieta, mas não é suficiente para suprir as necessidade e garantir os níveis seguros da oferta deste nutriente entre gestantes brasileiras.

Radioquimioterapia adyuvante en cáncer gástrico completamente resecado: experiencia del Instituto Nacional del Cáncer de Chile / Adjuvant chemoradiotherapy in advanced gastric cancer: Experience in 168 patients

Background: Gastric cancer is one of the most lethal tumors in the Chilean population. Aim: To report the results of adjuvant chemoradiotherapy in advanced gastric cancer. Material and Methods: Review of medical records of patients with locoregionally advanced gastric cancer, subjected to a curative resection and treated with adjuvant chemoradiotherapy. The treatment was based on the INT 0116/SWOG protocol, which includes 5-fuorouracil as a single agent. Patients were followed for a median of 58 months. Results: the records of 168 patients (99 men) treated between 2004 and 2011, were reviewed. Median survival was 41 months. Median lapses between surgery and onset of chemo and radiotherapy were 12 and 17 weeks, respectively. Overall three and five years survival was 53 and 41%, respectively. On multivariate analysis the factors associated with a lower survival were an antral location of the tumor, presence of signet ring cells and more than 15 involved lymph nodes. Conclusions: Three and five years survival of gastric cancer patients subjected to adjuvant chemoradiotherapy was 53 and 41% respectively. These results are similar to those reported elsewhere.

Valores de referencia de niacina para la población venezolana / Reference values of niacin for the Venezuelan population

La niacina es una vitamina hidrosoluble, conocida también como ácido nicotínico o vitamina B3. La nicotinamida es un derivado de la niacina (amida del ácido nicotínico), y es utilizada por el cuerpo para producir las coenzimas nicotinamida adenina dinucleótido (NAD) y nicotinamida adenina dinucleótido fosfato (NADP). En esta revisión de los requerimientos de niacina para Venezuela, encontramos que los datos nacionales no son suficientes para establecer las recomendaciones de consumo de este nutriente, por lo tanto, al igual que en la revisión del año 2000, las recomendaciones actuales se basan en las definidas para la población de Estados Unidos. Las Ingestas Dietéticas Recomendadas (RDAs) para Venezuela son: menores de 1 año (2-4 mg/día), niños entre 1 y 8 años (6-8 mg/día), niños entre 9 y 13 años (12 mg/día), adolescentes y adultos del sexo femenino (14 mg/día), adolescentes y adultos del sexo masculino (16 mg/día), embarazadas (18 mg/día) y lactancia (17 mg/ día). En cuanto al Requerimiento Promedio Estimado (EAR): 5-9 mg/día para niños, 11 mg/día para adolescentes y adultos del sexo femenino y 12 mg/día para adolescentes y adultos del sexo masculino, aumentado a 14 mg/día para embarazadas y a 13 mg/ día durante la lactancia. Los Niveles de Ingesta Máximos Tolerables (UL) son: niños entre 1 y 3 años (10 mg/día), niños entre 4 y 8 años (15 mg/día), niños entre 9 y 13 años (20 mg/día), adolescentes (30 mg/día) y adultos (35 mg/día). Es necesario realizar estudios donde se evalúe el estado nutricional de esta vitamina en diferentes grupos de la población, que incluya no solo la estimación del consumo, sino la utilización de indicadores bioquímicos, como la medición de los niveles de las coenzimas NAD y NADP en eritrocitos o sangre completa y la determinación de los principales metabolitos urinarios de la vitamina.

Niacin is a water soluble vitamin, also known as nicotinic acid or Vitamin B3. Nicotinamide is a derivative of niacin (amide of nicotinic acid), and is used by the body to produce the coenzyme nicotinamide adenine dinucleotide (NAD) and nicotinamide adenine dinucleotide phosphate (NADP). In preparing this review about the niacin requirements for Venezuela, it was found that there is not enough national data to establish recommendations, therefore, as in the 2000 review of the Venezuelan Recommended Dietary Allowances (RDAs), the actual recommendations for intake of niacin, are based on those reported for the United States population. The RDAs for Venezuela are: 2-4 mg/day for infants less than 1 year old, 6-8 mg/ day for children between 1 and 8 years, 12 mg/day for children between 9 and 13 years, 14 mg/day for adolescents and female adults, 16 mg/day for adolescents and adult males, 18 mg/day during pregnancy and 17 mg/day during lactation. The estimated average requirement (EAR) is: 6-9 mg/day for children, 11 mg/ day for adolescents and female adults and 12 mg/day for adolescents and adult males, increasing to 14 mg/day during pregnancy and to 13 mg/day during lactation. The niacin Tolerable Upper Intake Levels (UL) are: 10 mg/day for children between 1 and 3 years, 15 mg/day for children between 4 and 8 years, 20 mg/day for children between 9 and 13 years, 30 mg/day for adolescents and 35 mg/day for adults. It is necessary to perform studies where the nutritional status of this vitamin is evaluated for different population groups, including not only the estimation of consumption, but the use of biochemical indicators, such as measuring the levels of the coenzymes NAD and NADP in erythrocytes or whole blood and determination of the major urinary metabolites of the vitamin.

Doença de Marchiafava-Bignami: uma rara entidade com prognóstico sombrio / Marchiafava-Bignami disease: a rare entity with a poor outcome

A doença de Marchiafava-Bignami é uma entidade rara, caracterizada por uma degeneração primária do corpo caloso, associada com o consumo crônico do etanol. A doença pode, ocasionalmente, ocorrer em pacientes não etilistas cronicamente desnutridos. Uma deficiência de vitaminas do complexo B é considerada como a hipótese etiopatogênica principal, uma vez que muitos pacientes obtiveram uma melhora após a administração desses compostos. Algumas vezes, entretanto, tal resposta terapêutica não foi observada. O diagnóstico definitivo da doença de Marchiafava-Bignami pode ser problemático e depende das características de estudos de neuroimagem, especialmente a ressonância magnética. Seu tratamento, dessa forma, é ainda controverso, com resultados variáveis. Como estão implicados fatores nutricionais, analogamente à encefalopatia de Wernicke, alguns autores recomendam a reposição de vitaminas do complexo B, particularmente da B1. O presente artigo relata a forma aguda da doença de Marchiafava-Bignami em um paciente masculino dependente do álcool, que apresentou discreta melhora após a administração parenteral das vitaminas do complexo B. Como consequência de suas más condições neurológicas e imunológicas, ele desenvolveu infecções pulmonares múltiplas e permaneceu, por longo tempo, na unidade de terapia intensiva. Seu óbito ocorreu por sepse causada por um fungo raro, o Rhodotorula mucilaginosa. O artigo é um relato clínico da evolução desse paciente, com a apresentação de seus dados de neuroimagem, acompanhada por uma revisão sobre doença de Marchiafava-Bignami e sobre as infecções por Rhodotorula dentro da perspectiva da unidade de cuidado intensivo.

Marchiafava-Bignami disease is a rare affliction characterized by primary degeneration of the corpus callosum associated with chronic consumption of ethanol. The disease may occasionally occur in patients who are not alcoholics but are chronically malnourished. A complex deficiency of group B vitamins is the main etiopathogenic hypothesis, and many patients improve after the administration of these compounds. However, a good response is not always observed. The definitive diagnosis of Marchiafava-Bignami disease can be problematic and is based on features of neuroimaging studies, especially magnetic resonance imaging. Its treatment is still controversial and shows variable results. Because nutritional factors are implicated, as in Wernicke's encephalopathy, some authors claim that replacement of B vitamins is beneficial. The present article is a case report of a severe acute form of Marchiafava-Bignami disease in an alcohol-dependent male patient who improved after the administration of parenteral B vitamins. As a consequence of his neurological and immunologic conditions, he developed multiple pulmonary infections and had a protracted course in the intensive care unit. He eventually died of sepsis associated with an uncommon fungus, Rhodotorula mucilaginosa. The present article reports the clinical and neuroimaging data from this patient and contains a review of Marchiafava-Bignami disease and Rhodotorula infections in the intensive care unit.

Falla de la profilaxis con cotrimoxazol para la neumonía por Pneumocystis jiroveci con el uso concomitante de leucovorina: Reporte de un caso / Failure of cotrimoxazole prophylaxis for Pneumocystis jiroveci pneumonia with concomitant use of leucovorin: Case report

The concomitant use of leucovorin and cotrimoxazole in PCP can lead to therapeutic failure and increased risk of death due to antagonism. It is important to keep this possible antagonistic interaction in mind even during prophylaxis. This paper presents a case with this failure outcome.

Folic acid in cleft lip, alveolus and palate prevention: Awareness among dental professionals.

Objectives : To determine the awareness amongst dental students, practitioners and maxillofacial surgeons the role of folic acid in the prevention of CLAP and its clinical use. Materials and Methods : Questionnaire based study involving a sample base of 1100, comprising of dental students, practitioners and specialist maxillofacial surgeons. Results : hundred percent of the sample population were aware of CLAP disorders, of which 9.5 % believed that CLAP could be prevented. 3.8 % of the population were able to correlate folic acid to CLAP while a negligible 0.03 % could provide the dosage. Conclusion : Educating healthcare providers and, in turn, the prospective parents on benefits folic acid would not only help in reducing the incidence of CLAP but also significantly influence the economics of the patients afflicted with CLAP disorders.

Fortificación de la harina de trigo con ácido fólico en Chile: Consecuencias no intencionadas / Flour fortifcation with folic acid in Chile: Unintended consequences

Background: High daily intake of folic acid (FA) could determine health risks in some populations. Aim: To review the Chilean FA wheat four fortifcation and to identify the existence of populations at risk. Material and Methods: We categorized the FA levels in four samples (percentil P) (2005-2008) and estimated intake of FA (mg/d) in adults from apparent bread consumption according to different levels (P20, 50 and 95) and children consumption (8-13 years) considering socioeconomic status (SES), bread/g/d intake (P20, 50 and 75) and regulated level of four fortifcation (2.2 mg FA/100 g). Daily Dietary Folate Equivalent (DFE) consumption was estimated from serum folate in adults and elderly people (both sexes). We calculated the percentage of population with FA intakes over the estimated average requirement (EAR) and maximum level (UL) pre and post-fortifcation. Results: There is great variability in FA four: 10-20 percent samples without FA and 10-30 percent with levels > 2.2 mg/100 g. Adult daily consumption (2-4 day/loaves) could determine FA intakes close to UL. Children daily bread consumption (low socioeconomic level) > P75 have intakes close to UL. Post-fortifcation estimated daily DFE from serum folate in women, men and elderly people show: 99 percent of women, 100 percent of men and the elderly people have intakes higher than EAR. Additionally 2.3 percent of women and 6 percent of men would have intakes near the UL. Conclusions: The four FA levels and serum folate levels in some populations show increased FA post-fortifcation intakes, which could lead to greater risk suggesting a revision of the fortifcation level.

Vitamina B en paciente alcohólico: relato de un caso / Vitamine B in alcoholic patient: case report

Métodos: A partir del año 2007 se efectúan estudios en nuestro Instituto para precisar una dosis adecuada de complejo B a aplicar en el Síndrome de Deprivación Alcohólico (Ibáñez y Bustamante) Resultados: Después de tres semanas de tratamiento con benzodiacepina y complejo B (tiamina) según el nuevo protocolo se logra una recuperación motora y mental de un paciente con un Síndrome Korsakoiwideo alcohólico y un cuadro de paraparesia. Conclusión: Los resultados sugieren que la encefalopatía de Wernicke tratada con dosis superiores a 300 mg/diarios de tiamina puede tener un resultado altamente beneficioso para el paciente con síndrome de deprivación alcohólico.

Method: Since 2007, different studies have been made in our Institute, in order to find the right dose of Vitamin B Complex in cases of Alcohol Withdrawal Syndrome (Ibáñez y Bustamante). Results: After a 3 weeks treatment with Benzodiazepine and Vitamin B Complex (Thiamine), according to the new protocol, a patient with Alcoholic Korsakow Syndrome and Paraparesis, recovers his mental and motor functions. Conclusions: Wernicke’s encephalopathy can be treated with high doses of Thiamine (around 300 mg/a day), on patients with Alcohol Withdrawal Syndrome with highly good results.

Influence of folic acid on plasma homocysteine levels & arterial endothelial function in patients with unstable angina.

Background & objectives: High plasma homocysteine (Hcy) levels are known to be associated with coronary artery disease, but the precise level associated with an increased risk is yet controversial. Whether the beneficial effects of folic acid on arterial endothelial function persist over longer periods is not known. This study was carried out to assess whether folic acid supplementation could produce improvements in Hcy levels and arterial endothelial function in the patients with unstable angina (UA) and hyperhomocysteinaemia. Methods: The plasma Hcy levels of 52 cases with UA and 30 control subjects were measured by using high-performance liquid chromatography (HPLC) with fluorescence detection, plasma folic acid and vitamin B12 levels were also measured. The patients with hyperhomocysteinaemia were treated with 5 mg of folic acid for 8 wk, and then rechecked the plasma levels of Hcy, folic acid and vitamin B12 at the end of 4th and 8th wk. Arterial endothelial function was measured as flow-mediated dilation of the brachial artery using high-resolution B-mode ultrasound in 22 cases with UA and hyperhomocysteinaemia before and after folic acid treatment. Results: The plasma Hcy level was significant higher in the patients with UA than in the controls (19.2 ± 4.9 vs 10.7 ± 5.3 μmol/l, P<0.01). The plasma levels of folic acid and vitamin B12 were significant lower in the patients with UA than in the controls. There were 22(42.3%) patients with hyperhomocysteinaemia in UA group. After 4 and 8 wk of administration of folic acid, the Hcy level reduced by 20.3 and 55.3 per cent in the UA patients with hyperhomocysteinaemia, respectively. Flow-mediated dilation also improved significantly, from 6.4 ± 1.9 to 9.0 ± 1.2 per cent (P<0.05) after 8 wk treatment with folic acid. Interpretation & conclusions: Plasma Hcy level was elevated in patients with UA. Folic acid can reduce the plasma Hcy levels and improve arterial endothelial function in the UA patients with hyperhomocysteinaemia.

Biotinidase deficiency with hypertonia as unusual feature.

We report 3 cases of biotinidase deficiency presenting in early infancy with neurological and cutaneous manifestations. All of them had hypertonia (spasticity). Response to oral biotin was excellent. One of the cases showed 7D3I biotidase deficient mutation.

Isoniazid Toxicity Presenting As Status Epilepticus and Severe Metabolic Acidosis.

Isoniazid (INH) is an integral component of treatment of tuberculosis. An acute overdose is potentially fatal and is characterized by the clinical triad of repetitive seizures unresponsive to the usual anticonvulsants, metabolic acidosis with a high anion gap and coma. The diagnosis of INH overdose should be considered in any patient who presents to emergency medical services (EMS) with the triad. We report a patient presenting with multiple generalised tonic clonic (GTC) convulsions with severe metabolic acidosis as a manifestation of INH toxicity. ©

Homocystinuria due to cystathionine beta synthase deficiency.

A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient was treated with oral pyridoxine therapy for three months. The child responded well to this therapy and the muscle spasms as well as skin manifestations such as cutis marmorata subsided. The treatment is being continued; the case is reported here because of its rarity. Homocysteinuria arising due to cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder of methionine metabolism that produces increased levels of urinary homocysteine and methionine It manifests itself in vascular, central nervous system, cutaneous, and connective tissue disturbances and phenotypically resembles Marfan's syndrome. Skin manifestations include malar flush, thin hair, and cutis reticulata / marmorata.