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1.
Support Care Cancer ; 28(9): 4235-4240, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31900617

RESUMO

PURPOSE: The value of testing for folate deficiency has been scrutinized recently given low prevalence of deficiency with widespread dietary fortification. Numerous studies have shown folate testing to be low yield overall. However, the value of such testing in the inpatient cancer population has not been defined. METHODS: We queried all folate tests performed during 2017 at our center on admitted cancer patients. We used diagnosis codes and manual chart review to assess risk factors for folate deficiency. Descriptive statistics were used to summarize characteristics of patients undergoing folate testing, the frequency of vitamin B12 co-testing, and repeat folate testing. Fisher's exact test was used to compare the proportion of deficient vs. not deficient tests based on the presence of risk factors. A Cox proportional hazards model was fit to examine the association between folate deficiency and survival. RESULTS: In total, 937 patients had 1065 tests performed during 2017. Among all tests, 7.0% indicated folate deficiency. In patients who underwent two folate tests in a single hospitalization, 89% were deficient neither instance. Risk factors for folate deficiency were equally common in instances with deficient compared with replete testing (25.3 vs. 20.4%, P = 0.334). Folate deficiency was associated with higher risk for death (HR 1.49, 95% CI 1.10-2.03, P = 0.01). CONCLUSION: Folate deficiency was present in 7% of hospitalized cancer patients and associated with shorter overall survival. Repeat testing in the same patient over time was low yield. Traditional risk factors for folate deficiency do not appear to apply in this patient population.


Assuntos
Deficiência de Ácido Fólico/diagnóstico , Ácido Fólico/sangue , Centros Médicos Acadêmicos/estatística & dados numéricos , Idoso , Dieta , Feminino , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/epidemiologia , Deficiência de Ácido Fólico/mortalidade , Humanos , Pacientes Internados/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Prevalência , Modelos de Riscos Proporcionais , Fatores de Risco , Vitamina B 12/análise
2.
Nutrients ; 11(12)2019 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-31756911

RESUMO

BACKGROUND: Within Cambodia, micronutrient deficiencies continue to be prevalent in vulnerable groups, such as women and children. Fortification of staple foods such as rice could be a promising strategy for Cambodia to improve micronutrient status. OBJECTIVE: Our objective was to investigate the impact of multiple-micronutrient fortified rice (MMFR), distributed through a World Food Program school-meals program (WFP-SMP) on serum zinc concentrations and folate status in a double-blind, cluster-randomized, placebo-controlled trial. METHODS: Sixteen schools were randomly assigned to receive one of three different types of extruded-fortified rice (UltraRice Original (URO), UltraRice New (URN), or NutriRice) or unfortified rice (placebo) six days a week for six months. A total of 1950 schoolchildren (6-16 years old) participated in the study. Serum zinc (all groups) and folate (only in NutriRice and placebo group) concentrations were assessed from morning non-fasting antecubital blood samples and were measured at three time points (baseline and after three and six months). RESULTS: After six months of intervention, serum zinc concentrations were significantly increased in all fortified rice group compared to placebo and baseline (0.98, 0.85 and 1.40 µmol/L for URO, URN and NutriRice, respectively) (interaction effect: p < 0.001 for all). Children in the intervention groups had a risk of zinc deficiencies of around one third (0.35, 039, and 0.28 for URO, URN, and NutriRice, respectively) compared to the placebo (p < 0.001 for all). The children receiving NutriRice had higher serum folate concentrations at endline compared to children receiving normal rice (+ 2.25 ng/mL, p = 0.007). CONCLUSIONS: This study showed that the high prevalence of zinc and folate deficiency in Cambodia can be improved through the provision of MMFR. As rice is the staple diet for Cambodia, MMFR should be considered to be included in the school meal program and possibilities should be explored to introduce MMFR to the general population.


Assuntos
Fenômenos Fisiológicos da Nutrição do Adolescente , Fenômenos Fisiológicos da Nutrição Infantil , Deficiência de Ácido Fólico/dietoterapia , Ácido Fólico/sangue , Alimentos Fortificados/análise , Estado Nutricional , Valor Nutritivo , Oryza/química , Zinco/sangue , Adolescente , Fatores Etários , Biomarcadores/sangue , Camboja , Criança , Método Duplo-Cego , Feminino , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/fisiopatologia , Humanos , Masculino , Recomendações Nutricionais , Fatores de Tempo , Zinco/deficiência
3.
Nutrients ; 11(10)2019 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-31581726

RESUMO

Periconceptional folic acid (FA) supplementation is recommended to prevent neural tube defects (NTDs), but little information is known about its use in Vietnam. It is important that FA supplements start to be taken when planning a pregnancy and continued through the first trimester to prevent NTDs, as the neural tube closes in the first month of pregnancy. However, FA supplementation in Vietnam is usually recommended to commence from the first antenatal visit, which is usually at 16 weeks, and very few women take FA before their first visit. This multicenter study aimed to determine the prevalence of FA supplement use and associated maternal characteristics in Vietnam. FA supplementation was assessed in 2030 singleton pregnant women between 2015 and 2016. In total, 654 (32.2%) women reported taking either supplements containing FA alone or multivitamins containing FA, and 505 (24.9%) reported correctly taking supplements containing FA alone. Women who were aged 30 years or over, had low education levels, had formal employment, and whose current pregnancy was first or unplanned were less likely to supplement with FA. Education programs are needed to encourage FA supplementation when contemplating pregnancy.


Assuntos
Suplementos Nutricionais , Deficiência de Ácido Fólico/prevenção & controle , Ácido Fólico/administração & dosagem , Fenômenos Fisiológicos da Nutrição Materna , Defeitos do Tubo Neural/prevenção & controle , Estado Nutricional , Complicações na Gravidez/prevenção & controle , Cuidado Pré-Natal , Adulto , Escolaridade , Emprego , Feminino , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/epidemiologia , Deficiência de Ácido Fólico/fisiopatologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/fisiopatologia , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/fisiopatologia , Medição de Risco , Fatores de Risco , Vietnã/epidemiologia , Adulto Jovem
4.
Ugeskr Laeger ; 181(27)2019 Jul 01.
Artigo em Dinamarquês | MEDLINE | ID: mdl-31267942

RESUMO

In this case report, a 26-year-old pregnant woman presented with headache, visual disturbances, mega-loblastic anaemia, thrombocytopenia and proteinuria in her third trimester. These symptoms were initially misinterpreted as HELLP-syndrome, but due to normal blood pressure and liver function the patient was diagnosed with severe folate deficiency despite her daily supplements of folate to avoid neural tube defects and deficiency. The reason was onset of coeliac disease during pregnancy. Careful examination may help discriminate HELLP-syndrome from folate deficiency and thus avoid preterm delivery.


Assuntos
Deficiência de Ácido Fólico , Síndrome HELLP , Pré-Eclâmpsia , Adulto , Diagnóstico Diferencial , Feminino , Ácido Fólico , Deficiência de Ácido Fólico/diagnóstico , Humanos , Pré-Eclâmpsia/diagnóstico , Gravidez , Terceiro Trimestre da Gravidez
5.
Am J Clin Nutr ; 109(5): 1452-1461, 2019 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-31005964

RESUMO

BACKGROUND: For women of reproductive age, a population-level red blood cell (RBC) folate concentration below the threshold 906 nmol/L or 400 ng/mL indicates folate insufficiency and suboptimal neural tube defect (NTD) prevention. A corresponding population plasma/serum folate concentration threshold for optimal NTD prevention has not been established. OBJECTIVE: The aim of this study was to examine the association between plasma and RBC folate concentrations and estimated a population plasma folate insufficiency threshold (pf-IT) corresponding to the RBC folate insufficiency threshold (RBCf-IT) of 906 nmol/L. METHODS: We analyzed data on women of reproductive age (n = 1673) who participated in a population-based, randomized folic acid supplementation trial in northern China. Of these women, 565 women with anemia and/or vitamin B-12 deficiency were ineligible for folic acid intervention (nonintervention group); the other 1108 received folic acid supplementation for 6 mo (intervention group). We developed a Bayesian linear model to estimate the pf-IT corresponding to RBCf-IT by time from supplementation initiation, folic acid dosage, methyltetrahydrofolate reductase (MTHFR) genotype, body mass index (BMI), vitamin B-12 status, or anemia status. RESULTS: Using plasma and RBC folate concentrations of the intervention group, the estimated median pf-IT was 25.5 nmol/L (95% credible interval: 24.6, 26.4). The median pf-ITs were similar between the baseline and postsupplementation samples (25.7 compared with 25.2 nmol/L) but differed moderately (±3-4 nmol/L) by MTHFR genotype and BMI. Using the full population-based baseline sample (intervention and nonintervention), the median pf-IT was higher for women with vitamin B-12 deficiency (34.6 nmol/L) and marginal deficiency (29.8 nmol/L) compared with the sufficient group (25.6 nmol/L). CONCLUSIONS: The relation between RBC and plasma folate concentrations was modified by BMI and genotype and substantially by low plasma vitamin B-12. This suggests that the threshold of 25.5 nmol/L for optimal NTD prevention may be appropriate in populations with similar characteristics, but it should not be used in vitamin B-12 insufficient populations. This trial was registered at clinicaltrials.gov as NCT00207558.


Assuntos
Suplementos Nutricionais , Eritrócitos/metabolismo , Deficiência de Ácido Fólico/diagnóstico , Ácido Fólico/uso terapêutico , Defeitos do Tubo Neural/prevenção & controle , Cuidado Pré-Concepcional/métodos , Vitamina B 12/sangue , Adulto , Teorema de Bayes , Índice de Massa Corporal , China , Feminino , Ácido Fólico/sangue , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/tratamento farmacológico , Genótipo , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Terapia Nutricional , Saúde da População , Cuidado Pré-Concepcional/normas , Gravidez , Valores de Referência , Deficiência de Vitamina B 12/sangue , Adulto Jovem
6.
Mov Disord ; 34(5): 625-636, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30913345

RESUMO

The term "cerebral palsy mimic" is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral palsy. Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cerebral palsy syndrome should always be identified if possible. This is particularly important in the case of genetic or metabolic disorders that have specific disease-modifying treatment. In this article, we discuss clinical features that should alert the clinician to the possibility of a cerebral palsy mimic, provide a practical framework for selecting and interpreting neuroimaging, biochemical, and genetic investigations, and highlight selected conditions that may present with predominant spasticity, dystonia/chorea, and ataxia. Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosis and genetic counseling. © 2019 International Parkinson and Movement Disorder Society.


Assuntos
Paralisia Cerebral/diagnóstico , Diagnóstico Diferencial , Transtornos dos Movimentos/diagnóstico , Adenilil Ciclases/genética , Ataxia/fisiopatologia , Ataxia Telangiectasia/diagnóstico , Ataxia Telangiectasia/genética , Ataxia Telangiectasia/fisiopatologia , Ataxia Telangiectasia/terapia , Encéfalo/diagnóstico por imagem , Encefalopatias Metabólicas Congênitas/diagnóstico , Encefalopatias Metabólicas Congênitas/genética , Encefalopatias Metabólicas Congênitas/fisiopatologia , Encefalopatias Metabólicas Congênitas/terapia , Erros Inatos do Metabolismo dos Carboidratos/diagnóstico , Erros Inatos do Metabolismo dos Carboidratos/genética , Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia , Erros Inatos do Metabolismo dos Carboidratos/terapia , Paralisia Cerebral/fisiopatologia , Coreia/fisiopatologia , Creatina/deficiência , Creatina/genética , Discinesias/diagnóstico , Discinesias/genética , Discinesias/fisiopatologia , Discinesias/terapia , Distonia/fisiopatologia , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/genética , Deficiência de Ácido Fólico/fisiopatologia , Deficiência de Ácido Fólico/terapia , Subunidades alfa Gi-Go de Proteínas de Ligação ao GTP/genética , Humanos , Hiperargininemia/diagnóstico , Hiperargininemia/genética , Hiperargininemia/fisiopatologia , Hiperargininemia/terapia , Síndrome de Lesch-Nyhan/diagnóstico , Síndrome de Lesch-Nyhan/genética , Síndrome de Lesch-Nyhan/fisiopatologia , Síndrome de Lesch-Nyhan/terapia , Imagem por Ressonância Magnética , Retardo Mental Ligado ao Cromossomo X/diagnóstico , Retardo Mental Ligado ao Cromossomo X/genética , Retardo Mental Ligado ao Cromossomo X/fisiopatologia , Retardo Mental Ligado ao Cromossomo X/terapia , Proteínas de Transporte de Monossacarídeos/deficiência , Proteínas de Transporte de Monossacarídeos/genética , Transtornos dos Movimentos/genética , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/terapia , Deficiência Múltipla de Carboxilase/diagnóstico , Deficiência Múltipla de Carboxilase/genética
7.
Ital J Pediatr ; 45(1): 37, 2019 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-30867013

RESUMO

BACKGROUND: Neural tube defects (NTDs) are birth defects of the brain, spine, or spinal cord invoked by the insufficient intake of folic acid in the early stages of pregnancy and have a complex etiology involving both genetic and environmental factors. So the study aimed to explore the association between alterations in maternal one-carbon metabolism and NTDs in the offspring. METHODS: We conducted a case-control study to get a deeper insight into this association, as well as into the role of genetic polymorphisms. Plasma concentrations of folate, homocysteine (Hcy), S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH) and genotypes and alleles distributions of 52 SNPs in 8 genes were compared for 61 women with NTDs-affected offspring and 61 women with healthy ones. RESULTS: There were significant differences between groups with regard to plasma folate, SAM, SAH and SAM/SAH levels. Logistic regression results revealed a significant association between maternal plasma folate level and risk of NTDs in the offspring. For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259). For MTHFR rs1801133 polymorphism, mothers having TT and CT genotypes were more likely to affect NTDs in the offspring (OR = 4.105, 95%CI: 1.271-13.258; OR = 3.333, 95%CI: 1.068-10.400). Moreover, mothers carrying T allele had a higher risk of NTDs in the offspring (OR = 1.798, 95%CI: 1.070-3.021). For MTRR rs1801394 polymorphism, the frequency of G allele was significantly higher in cases than in controls (OR = 1.763, 95%CI: 1.023-3.036). Mothers with NTDs-affected children had higher AG genotype in RFC1 rs1051226 polymorphism than controls, manifesting an increased risk for NTDs (OR = 3.923, 95%CI: 1.361-11.308). CONCLUSION: Folic acid deficiency, MTHFD1 rs2236225, MTHFR rs1801133, MTRR rs1801349 and RFC1 rs1051226 polymorphisms may be maternal risk factors of NTDs.


Assuntos
Deficiência de Ácido Fólico/genética , Predisposição Genética para Doença/epidemiologia , Defeitos do Tubo Neural/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Carbono/metabolismo , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , China , Feminino , Ferredoxina-NADP Redutase/genética , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/epidemiologia , Marcadores Genéticos/genética , Genótipo , Humanos , Recém-Nascido , Modelos Logísticos , Masculino , Metilenotetra-Hidrofolato Desidrogenase (NADP)/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Antígenos de Histocompatibilidade Menor/genética , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/fisiopatologia , Razão de Chances , Gravidez , Valores de Referência
9.
Mov Disord ; 34(5): 598-613, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30557456

RESUMO

There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neurological and neurological manifestations, commonly with onset during childhood. Movement disorders are among the most common neurological problems in inborn errors of metabolism, but, in many cases, remain poorly defined. Although movement disorders are usually not the only and often not the presenting symptom, their recognition can facilitate a diagnosis. Movement disorders contribute substantially to the morbidity in inborn errors of metabolism and can have a significant impact on quality of life. Common metabolic movement disorders include the monoamine neurotransmitter disorders, disorders of amino and organic acid metabolism, metal storage disorders, lysosomal storage disorders, congenital disorders of autophagy, disorders of creatine metabolism, vitamin-responsive disorders, and disorders of energy metabolism. Importantly, disease-modifying therapies exist for a number of inborn errors of metabolism, and early recognition and treatment can prevent irreversible CNS damage and reduce morbidity and mortality. A phenomenology-based approach, based on the predominant movement disorder, can facilitate a differential diagnosis and can guide biochemical, molecular, and imaging testing. The complexity of metabolic movement disorders demands an interdisciplinary approach and close collaboration of pediatric neurologists, neurologists, geneticists, and experts in metabolism. In this review, we develop a general framework for a phenomenology-based approach to movement disorders in inborn errors of metabolism and discuss an approach to identifying the "top ten" of treatable inborn errors of metabolism that present with movement disorders-diagnoses that should never be missed. © 2018 International Parkinson and Movement Disorder Society.


Assuntos
Erros Inatos do Metabolismo/fisiopatologia , Transtornos dos Movimentos/fisiopatologia , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia , Erros Inatos do Metabolismo dos Aminoácidos/terapia , Ataxia/complicações , Ataxia/diagnóstico , Ataxia/etiologia , Ataxia/fisiopatologia , Ataxia/terapia , Doenças dos Gânglios da Base/complicações , Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/fisiopatologia , Doenças dos Gânglios da Base/terapia , Encefalopatias Metabólicas/complicações , Encefalopatias Metabólicas/diagnóstico , Encefalopatias Metabólicas/fisiopatologia , Encefalopatias Metabólicas/terapia , Erros Inatos do Metabolismo dos Carboidratos/complicações , Erros Inatos do Metabolismo dos Carboidratos/diagnóstico , Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia , Erros Inatos do Metabolismo dos Carboidratos/terapia , Coreia/etiologia , Coreia/fisiopatologia , Distonia/etiologia , Distonia/fisiopatologia , Distúrbios Distônicos/complicações , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/etiologia , Distúrbios Distônicos/fisiopatologia , Distúrbios Distônicos/terapia , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/fisiopatologia , Deficiência de Ácido Fólico/terapia , Glutaril-CoA Desidrogenase/deficiência , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/fisiopatologia , Degeneração Hepatolenticular/terapia , Humanos , Doenças Metabólicas/complicações , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/fisiopatologia , Doenças Metabólicas/terapia , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/terapia , Proteínas de Transporte de Monossacarídeos/deficiência , Transtornos dos Movimentos/etiologia , Espasticidade Muscular/etiologia
10.
BMC Ophthalmol ; 18(Suppl 1): 220, 2018 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-30255822

RESUMO

BACKGROUND: Retinal vascular occlusions are uncommon in young people and require more in-depth investigation into the cause. Studies have revealed that a high level of circulating homocysteine poses a risk for retinal vaso-occlusive events across a wide age range. This case report reflects on how the interplay of genetic mutation and vitamin deficiency can cause a pathological level of homocysteine with resultant branch retinal artery occlusion in a young patient. CASE PRESENTATION: A 16-year-old boy presented to eye casualty with acute inferior visual field loss in the left eye. Visual acuity remained normal at 6/6 each eye and the event was painless. Initial assessment, and retinal photography revealed a left superior hemi-field branch retinal artery occlusion with macular sparing. Given the patient's age, extensive investigation into the cause was carried out. Positive findings were of an elevated level of homocysteine as a result of vitamin B12 and folic acid deficiency as well as a genetic mutation in the MTHFR gene (encoding MTHFR enzyme which is vital in normal homocysteine metabolism). Vitamin B12 and folic acid were replaced which in turn normalized the patient's homocysteine levels. At two months, the patient's visual fields had also improved, and no further vascular event had occurred. CONCLUSIONS: This case report has highlighted the link between hyperhomocysteinaemia and retinal artery occlusion. However, despite vitamin replacement being shown to normalize homocysteine levels, no evidence exists to date as to whether this will reduce the risk of further retinal vascular occlusion.


Assuntos
Deficiência de Ácido Fólico/diagnóstico , Hiper-Homocisteinemia/complicações , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Oclusão da Artéria Retiniana/etiologia , Deficiência de Vitamina B 12/diagnóstico , Adolescente , Ácido Fólico/uso terapêutico , Predisposição Genética para Doença/genética , Genótipo , Homocisteína/sangue , Humanos , Hiper-Homocisteinemia/sangue , Hiper-Homocisteinemia/diagnóstico , Hiper-Homocisteinemia/tratamento farmacológico , Masculino , Desnutrição/diagnóstico , Oclusão da Artéria Retiniana/sangue , Oclusão da Artéria Retiniana/diagnóstico , Oclusão da Artéria Retiniana/tratamento farmacológico , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia , Acuidade Visual/fisiologia , Testes de Campo Visual , Campos Visuais , Vitamina B 12/uso terapêutico
11.
Psychiatr Danub ; 30(3): 310-316, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30267523

RESUMO

BACKGROUND: In our study, we aimed to evaluate the serum homocysteine levels, pyridoxine, folate and vitamin B12 levels in children with attention deficit hyperactivity disorders (ADHD). SUBJECTS AND METHODS: This study included 30 newly diagnosed drug-naive children with ADHD (23 males and 7 female, mean age 9.3±1.8 years) and 30 sex-and age matched healthy controls. The diagnosis of ADHD was made according to DSM-V criteria. Children and adolescents were administered the Schedule for Affective Disorders and Schizophrenia for School Aged Children, Present and Lifetime Version, the Conners' Parent Rating Scale-Revised, Long Form, the Conners' Teacher Rating Scale and the Wechsler Intelligence Scale for Children Revised (WISC-R) for all participants. Homocysteine, pyridoxine, folate and vitamin B12 levels were measured with enzyme-linked immunosorbent assay. RESULTS: Homocysteine, pyridoxine, folate and vitamin B12 levels were significantly lower in children with ADHD compared with their controls (p<0.05). A positive significant correlation was observed between the all WISC-R scores and vitamin B12 level in patients (r=0.408, p=0.025). CONCLUSIONS: The results obtained in this study showed that reduced homocysteine, pyridoxine, folate and vitamin B12 levels could be a risk factor in the etiology of ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/sangue , Ácido Fólico/sangue , Homocisteína/sangue , Piridoxina/sangue , Vitamina B 12/sangue , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Escala de Avaliação Comportamental , Criança , Ensaio de Imunoadsorção Enzimática , Feminino , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/diagnóstico , Homocisteína/deficiência , Humanos , Masculino , Valores de Referência , Fatores de Risco , Deficiência de Vitamina B 12/sangue , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 6/sangue , Deficiência de Vitamina B 6/diagnóstico , Escalas de Wechsler
12.
J Clin Pathol ; 71(11): 949-956, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30228213

RESUMO

Folate (vitamin B9) plays a crucial role in fundamental cellular processes, including nucleic acid biosynthesis, methyl group biogenesis and amino acid metabolism. The detection and correction of folate deficiency prevents megaloblastic anaemia and reduces the risk of neural tube defects. Coexisting deficiencies of folate and vitamin B12 are associated with cognitive decline, depression and neuropathy. Folate deficiency and excess has also been implicated in some cancers. Excessive exposure to folic acid, a synthetic compound used in supplements and fortified foods, has also been linked to adverse health effects. Of at least three distinct laboratory markers of folate status, it is the total abundance of folate in serum/plasma that is used by the majority of laboratories. The analysis of folate in red cells is also commonly performed. Since the folate content of red cells is fixed during erythropoiesis, this marker is indicative of folate status over the preceding ~4 months. Poor stability, variation in polyglutamate chain length and unreliable extraction from red cells are factors that make the analysis of folate challenging. The clinical use of measuring specific folate species has also been explored. 5-Methyltetrahydrofolate, the main form of folate found in blood, is essential for the vitamin B12-dependent methionine synthase mediated remethylation of homocysteine to methionine. As such, homocysteine measurement reflects cellular folate and vitamin B12 use. When interpreting homocysteine results, age, sex and pregnancy, specific reference ranges should be applied. The evaluation of folate status using combined markers of abundance and cellular use has been adopted by some laboratories. In the presence of discordance between laboratory results and strong clinical features of deficiency, treatment should not be delayed. High folate status should be followed up with the assessment of vitamin B12 status, a review of previous results and reassessment of folic acid supplementation regime.


Assuntos
Análise Química do Sangue/métodos , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/diagnóstico , Ácido Fólico/sangue , Benchmarking , Biomarcadores/sangue , Análise Química do Sangue/normas , Calibragem , Eritrócitos/metabolismo , Receptores de Folato com Âncoras de GPI/sangue , Ácido Fólico/efeitos adversos , Transportadores de Ácido Fólico/sangue , Homocisteína/sangue , Humanos , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Tetra-Hidrofolatos/sangue
13.
Nutrients ; 10(5)2018 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-29783689

RESUMO

Cobalamin and folate are crucial micronutrients during infancy and they are required for growth and cognitive development. Due to the monotonous and predominantly vegetarian-based complementary feeding and poor maternal micronutrient status, infants from low- and middle-income countries are susceptible to cobalamin deficiency. However, data on plasma cobalamin and folate and the functional markers methylmalonic acid and total homocysteine from breastfed infants in Nepal are still needed. We collected plasma samples from 316 6⁻11-month-old breastfed infants with a length-for-age of less than minus one z-score and analyzed blood for plasma folate, cobalamin, methylmalonic acid and total homocysteine concentrations. Cobalamin deficiency (plasma cobalamin 10 µmol/L) and methylmalonic acid (>0.28 µmol/L) indicating functional cobalamin deficiency were found among 53% and 75% of the infants, respectively. Based on a combined indicator of cobalamin status, 58% were found to have low cobalamin status. However, folate deficiency (.


Assuntos
Aleitamento Materno , Ácido Fólico/sangue , Fenômenos Fisiológicos da Nutrição do Lactente , Vitamina B 12/sangue , Biomarcadores/sangue , Estudos Transversais , Feminino , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/diagnóstico , Homocisteína/sangue , Humanos , Lactente , Masculino , Ácido Metilmalônico/sangue , Nepal , Estado Nutricional , Deficiência de Vitamina B 12/sangue , Deficiência de Vitamina B 12/diagnóstico
14.
Am J Med ; 131(8): 939-944, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29729235

RESUMO

PURPOSE: The red blood cell (RBC) folate test is a laboratory test with limited clinical utility. Previous attempts to reduce physician ordering of unnecessary laboratory tests, including folate levels, have resulted in only modest success. The objective of this study was to assess the effectiveness and impacts of restricting RBC folate ordering in the electronic health record (EHR). METHODS: This was a retrospective observational study that took place from January 2010 to December 2016 at a large academic healthcare network in Toronto, Canada. All inpatients and outpatients who underwent at least 1 RBC folate or vitamin B12 test during the study period were included. Ordering an RBC folate test was restricted to clinicians in gastroenterology and hematology. The option to order the test was removed from other physicians' computerized order entry screens in the EHR in June 2013. RESULTS: RBC folate testing decreased by 94.4% during the study, from a mean of 493.0 ± 48.0 tests per month prior to intervention to 27.6 ± 10.3 tests per month after intervention (P < .001). CONCLUSIONS: Restricting RBC folate ordering in the EHR resulted in a large and sustained reduction in RBC folate testing. Significant cost savings, estimated at more than a quarter of a million Canadian dollars over 3 years, were achieved. There was no significant clinical impact of the intervention on the diagnosis of folate deficiency.


Assuntos
Registros Eletrônicos de Saúde , Eritrócitos/química , Ácido Fólico/sangue , Sistemas de Registro de Ordens Médicas , Procedimentos Desnecessários/estatística & dados numéricos , Redução de Custos/estatística & dados numéricos , Feminino , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/diagnóstico , Custos Hospitalares/estatística & dados numéricos , Humanos , Masculino , Estudos Retrospectivos , Procedimentos Desnecessários/economia , Vitamina B 12/sangue
15.
Mol Genet Metab ; 124(1): 87-93, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29661558

RESUMO

INTRODUCTION: Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders. High-dose folinic acid treatment restores many neurologic deficits. STUDY AIMS AND METHODS: Among 36 patients from 33 families the infantile-onset CFD syndrome was diagnosed based on typical clinical features and low CSF folate. All parents were healthy. Three families had 2 affected siblings, while parents from 4 families were first cousins. We analysed serum FR autoantibodies and the FOLR1 and FOLR2 genes. Among three consanguineous families homozygosity mapping attempted to identify a monogenetic cause. Whole exome sequencing (WES) was performed in the fourth consanguineous family, where two siblings also suffered from polyneuropathy as an atypical finding. RESULTS: Boys (72%) outnumbered girls (28%). Most patients (89%) had serum FR autoantibodies fluctuating over 5-6 weeks. Two children had a genetic FOLR1 variant without pathological significance. Homozygosity mapping failed to detect a single autosomal recessive gene. WES revealed an autosomal recessive polynucleotide kinase 3´phosphatase (PNKP) gene abnormality in the siblings with polyneuropathy. DISCUSSION: Infantile-onset CFD was characterized by serum FR autoantibodies as its predominant pathology whereas pathogenic FOLR1 gene mutations were absent. Homozygosity mapping excluded autosomal recessive inheritance of any single responsible gene. WES in one consanguineous family identified a PNKP gene abnormality that explained the polyneuropathy and also its contribution to the infantile CFD syndrome because the PNKP gene plays a dual role in both neurodevelopment and immune-regulatory function. Further research for candidate genes predisposing to FRα-autoimmunity is suggested to include X-chromosomal and non-coding DNA regions.


Assuntos
Autoanticorpos/sangue , Encefalopatias Metabólicas Congênitas/genética , Receptor 1 de Folato/imunologia , Deficiência de Ácido Fólico/genética , Adolescente , Encefalopatias Metabólicas Congênitas/líquido cefalorraquidiano , Encefalopatias Metabólicas Congênitas/diagnóstico , Criança , Pré-Escolar , Consanguinidade , Enzimas Reparadoras do DNA/genética , Diagnóstico Diferencial , Família , Feminino , Receptor 1 de Folato/genética , Receptor 2 de Folato/genética , Ácido Fólico/líquido cefalorraquidiano , Deficiência de Ácido Fólico/líquido cefalorraquidiano , Deficiência de Ácido Fólico/diagnóstico , Humanos , Lactente , Masculino , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Polineuropatias/etiologia , Sequenciamento Completo do Exoma , Adulto Jovem
16.
Discov Med ; 25(136): 67-74, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29579413

RESUMO

"Anemias beyond iron, vitamin B12, and folate deficiencies" covers a wide array of everything which lies beyond commonly seen anemias caused by deficiencies of three micronutrients. Although anemias due to deficiencies of iron, B12, and folate are common in daily practice and account for at least one-third of anemia etiologies in older adults, it is not uncommon to encounter other nutritional and toxin-induced underproduction anemias. The combination of thorough clinical examination, careful peripheral blood smear review, and judicious selection of supporting laboratory studies is typically sufficient to make an assertive diagnosis of those cases. Moreover, the recognition of overlapping features with primary hematologic disorders and the diagnostic limitations of conventional testing are important for clinicians to determine when to refer to a hematologist. Herein, we discuss clinical features and diagnostic approaches to unusual underproduction anemias due to deficiencies of vitamin B6 and copper, and toxic effects of alcohol and lead.


Assuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Anemia , Deficiência de Ácido Fólico , Ferro/deficiência , Chumbo/toxicidade , Deficiência de Vitamina B 12 , Anemia/sangue , Anemia/diagnóstico , Anemia/terapia , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/terapia , Humanos , Deficiência de Vitamina B 12/sangue , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/terapia
17.
Nutrients ; 10(2)2018 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-29466283

RESUMO

The intrauterine environment is critical for fetal growth and organ development. Evidence from animal models indicates that the developing kidney is vulnerable to suboptimal maternal nutrition and changes in health status. However, evidence from human studies are yet to be synthesised. Therefore, the aim of the current study was to systematically review current research on the relationship between maternal nutrition during pregnancy and offspring kidney structure and function in humans. A search of five databases identified 9501 articles, of which three experimental and seven observational studies met the inclusion criteria. Nutrients reviewed to date included vitamin A (n = 3), folate and vitamin B12 (n = 2), iron (n = 1), vitamin D (n = 1), total energy (n = 2) and protein (n = 1). Seven studies were assessed as being of "positive" and three of "neutral" quality. A variety of populations were studied, with limited studies investigating maternal nutrition during pregnancy, while measurements of offspring kidney outcomes were diverse across studies. There was a lack of consistency in the timing of follow-up for offspring kidney structure and/or function assessments, thus limiting comparability between studies. Deficiencies in maternal folate, vitamin A, and total energy during pregnancy were associated with detrimental impacts on kidney structure and function, measured by kidney volume, proteinuria, eGFRcystC and mean creatinine clearance in the offspring. Additional experimental and longitudinal prospective studies are warranted to confirm this relationship, especially in Indigenous populations where the risk of renal disease is greater.


Assuntos
Ingestão de Energia , Deficiência de Ácido Fólico/complicações , Nefropatias/etiologia , Rim/fisiopatologia , Fenômenos Fisiológicos da Nutrição Materna , Estado Nutricional , Efeitos Tardios da Exposição Pré-Natal , Deficiência de Vitamina A/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/fisiopatologia , Humanos , Lactente , Recém-Nascido , Nefropatias/diagnóstico , Nefropatias/fisiopatologia , Pessoa de Meia-Idade , Gravidez , Prognóstico , Fatores de Risco , Deficiência de Vitamina A/diagnóstico , Deficiência de Vitamina A/fisiopatologia , Adulto Jovem
18.
Rev. Col. Méd. Cir. Guatem ; 156(2): 54-60, nov. 2017. graf
Artigo em Espanhol | LILACS | ID: biblio-986501

RESUMO

Antecedentes: Las anomalías del tubo neural son frecuentes en Guatemala. Una mayor frecuencia se observa en el antiplano guatemalteco, con mayor concentración de población indígena y con mayor depauperación económica. Observaciones de especialistas indican que en el primer semestre del año son mucho más frecuentes que en el segundo. Estas observaciones señalan que algo existe en el ambiente, probablemente en el ambiente alimentario, relacionado con el consumo de maíz, base dietética del guatemalteco. En el grano de este cereal, existe, fumomisinas (micotoxinas producidas por hongos) en gran cantidad, que tienen un efecto inhibidor de la captación celular de ácido fólico, micronutriente íntimamente relacionado con el cierre temprano del tubo neural. Objetivo: Demostrar si es cierto que existe mayor frecuencia de anomalías del tubo neural en Guatemala en el primer semestre del año que en el segundo, principalmente en los denominados meses de verano. Sugerir hipótesis futuras que expliquen este comportamiento epidemiológico. Metodología: Estudio descriptivo-analítico retrospectivo en la Unidad de Espina Bífida del Hospital General San Juan de Dios y en las 8 áreas geoeconómicas de Guatemala, analizando una sola variable: La fecha de nacimiento de niños y niñas que presentaron anomalías del tubo neural de diferente tipo. Resultados: Se demuestra que en efecto las anomalías del tubo neural son más frecuentes en el primer semestre del año que en el segundo. Principalmente en los meses de marzo-abril. Y que ocurren con menos frecuencia en el segundo semestre. Estos datos se podrían vincular con el consumo dietético de maíz, grano que también tiene diferencias estacionales en cuanto a su producción, almacenamiento, preparación y consumo (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Disrafismo Espinal/complicações , Fumonisinas/efeitos adversos , Desnutrição/complicações , Grupos Populacionais , Deficiência de Ácido Fólico/diagnóstico , Malformações do Sistema Nervoso/complicações , Defeitos do Tubo Neural/epidemiologia , Epidemiologia Descritiva , Guatemala/epidemiologia
19.
Congenit Anom (Kyoto) ; 57(5): 138-141, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28603928

RESUMO

Folate functions as a coenzyme to transfer one-carbon units that are necessary for deoxythymidylate synthesis, purine synthesis, and various methylation reactions. Ingested folate becomes a functional molecule through intestinal absorption, circulation, transport to cells, and various modifications to its structure. Associations between nutritional folate status and chronic diseases such as cardiovascular disease, cancer, and cognitive dysfunction have been reported. It has also been reported that maternal folate nutritional status is related to the risk of neural tube defects (NTDs) in the offspring. It has also been recommended that folate be consumed in the diet to promote the maintenance of good health. To reduce the risk of NTDs, supplementation with folic acid (a synthetic form of folate) during the periconceptional period has also been recommended. This paper describes the basic features and nutritional role of folate.


Assuntos
Suplementos Nutricionais , Deficiência de Ácido Fólico/prevenção & controle , Ácido Fólico/metabolismo , Defeitos do Tubo Neural/prevenção & controle , Tubo Neural/metabolismo , Embrião de Mamíferos , Feminino , Feto , Ácido Fólico/administração & dosagem , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/metabolismo , Deficiência de Ácido Fólico/patologia , Humanos , Redes e Vias Metabólicas/fisiologia , Tubo Neural/anormalidades , Tubo Neural/efeitos dos fármacos , Tubo Neural/embriologia , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/metabolismo , Defeitos do Tubo Neural/patologia , Recomendações Nutricionais
20.
Appl Physiol Nutr Metab ; 42(10): 1092-1096, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28644929

RESUMO

Short interpregnancy intervals (SIPI) have been associated with increased risks for adverse neonatal outcomes including preterm delivery and infants small for gestational age (SGA). It has been suggested that mechanistically, adverse neonatal outcomes after SIPI arise due to insufficient recovery of depleted maternal folate levels prior to the second pregnancy. However, empirical data are lacking regarding physiological folate levels in pregnant women with SIPI and relationships between quantified physiological folate levels and outcomes like SGA. Therefore, we sought to test 2 hypotheses, specifically that compared with controls women with SIPI would: (i) have lower red blood cell folate (RBCF) levels and (ii) be more likely to have SGA infants (defined as <10th percentile). Using data collected in British Columbia, Canada, for a larger study on perinatal psychopathology, we documented supplementation use and compared prenatal RBCF levels and proportion of SGA infants between women with SIPI (second child conceived ≤24 months after previous birth, n = 26) and matched controls (no previous pregnancies, or >24 months between pregnancies, n = 52). There were no significant differences in either mean RBCF levels (Welch's t test, p = 0.7) or proportion of SGA infants (Fisher's exact test, p = 0.7) between women with SIPI and matched controls. We report the first data about RBCF levels in the context of SIPI. If confirmed, our finding of no relationship between these variables in this population suggests that continued folic acid supplementation following an initial pregnancy mitigates folate depletion. We found no relationship between SIPI and SGA.


Assuntos
Intervalo entre Nascimentos , Suplementos Nutricionais , Eritrócitos/metabolismo , Deficiência de Ácido Fólico/prevenção & controle , Ácido Fólico/administração & dosagem , Ácido Fólico/sangue , Recém-Nascido Pequeno para a Idade Gestacional , Saúde Materna , Adulto , Biomarcadores/sangue , Peso ao Nascer , Colúmbia Britânica , Estudos de Casos e Controles , Feminino , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/diagnóstico , Idade Gestacional , Humanos , Recém-Nascido , Gravidez , Dados Preliminares , Fatores de Risco , Fatores de Tempo , Adulto Jovem
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