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1.
Mol Genet Metab ; 131(1-2): 23-37, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33093005

RESUMO

The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guidelines focusing on the diet treatment for inherited metabolic disorders and follows previous publication of guidelines for maple syrup urine disease (2014), phenylketonuria (2016) and propionic acidemia (2019). The purpose of this guideline is to establish harmonization in the treatment and monitoring of individuals with VLCAD of all ages in order to improve clinical outcomes. Six research questions were identified to support guideline development on: nutrition recommendations for the healthy individual, illness management, supplementation, monitoring, physical activity and management during pregnancy. This report describes the methodology used in its development including review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; expert input through two Delphi surveys and a nominal group process; and external review from metabolic physicians and dietitians. It includes the summary statements of the nutrition management recommendations for each research question, followed by a standardized rating based on the strength of the evidence. Online, open access of the full published guideline allows utilization by health care providers, researchers and collaborators who advise, advocate and care for individuals with VLCAD and their families and can be accessed from the Genetic Metabolic Dietitians International (https://GMDI.org) and Southeast Regional Genetics Network (https://southeastgenetics.org/ngp) websites.


Assuntos
Acil-CoA Desidrogenase de Cadeia Longa/genética , Síndrome Congênita de Insuficiência da Medula Óssea/dietoterapia , Erros Inatos do Metabolismo Lipídico/dietoterapia , Doenças Mitocondriais/dietoterapia , Doenças Musculares/dietoterapia , Política Nutricional , Acil-CoA Desidrogenase de Cadeia Longa/metabolismo , Síndrome Congênita de Insuficiência da Medula Óssea/genética , Síndrome Congênita de Insuficiência da Medula Óssea/metabolismo , Síndrome Congênita de Insuficiência da Medula Óssea/patologia , Feminino , Guias como Assunto , Humanos , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/metabolismo , Erros Inatos do Metabolismo Lipídico/patologia , Doenças Mitocondriais/genética , Doenças Mitocondriais/metabolismo , Doenças Mitocondriais/patologia , Doenças Musculares/genética , Doenças Musculares/metabolismo , Doenças Musculares/patologia , Terapia Nutricional , Gravidez
3.
Int J STD AIDS ; 20(7): 465-9, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19541887

RESUMO

Our goal was to define the risks of preterm birth associated with Chlamydia trachomatis (CT) and other sexually transmitted infections (STIs) among pregnant women. We accessed clinical records from July 2005 to February 2008. The study population included all pregnant women who gave birth to a singleton newborn of at least 20 weeks' gestation, and who had antenatal care information. We estimated the impact of CT and other STI on the odds of preterm birth using logistic regression. Overall, 2127 women were included in this analysis. The prevalence of CT infection was 4.7%. CT diagnosis was not associated with preterm birth. In conclusion, this study did not find an association between CT and preterm birth. The lack of an association may be explained by early treatment. Future studies evaluating the timing of screening for STIs may help clarify whether pregnant women would benefit more from earlier screening.


Assuntos
Infecções por Chlamydia/epidemiologia , Chlamydia trachomatis , Complicações Infecciosas na Gravidez/epidemiologia , Nascimento Prematuro/epidemiologia , Infecções Sexualmente Transmissíveis/epidemiologia , Adulto , Estudos de Casos e Controles , Infecções por Chlamydia/diagnóstico , Infecções por Chlamydia/tratamento farmacológico , Infecções por Chlamydia/microbiologia , Feminino , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Modelos Logísticos , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/tratamento farmacológico , Complicações Infecciosas na Gravidez/microbiologia , Cuidado Pré-Natal , Prevalência , Fatores de Risco , Infecções Sexualmente Transmissíveis/diagnóstico , Infecções Sexualmente Transmissíveis/tratamento farmacológico , Infecções Sexualmente Transmissíveis/microbiologia , Adulto Jovem
4.
J Inherit Metab Dis ; 30(6): 880-7, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18034368

RESUMO

The nutritional management of patients with urea cycle disorders (UCDs) involves restriction of dietary protein along with provision of adequate protein-free energy, essential amino acid supplements, and vitamins and minerals in combination with nitrogen-scavenging drugs. The present paper discusses nutrition therapy for a range of circumstances: during an acute hyperammonaemic episode and at hospital discharge; before, during, and after surgery; and for lifelong chronic management of UCDs.


Assuntos
Amônia/metabolismo , Enzimas/deficiência , Hiperamonemia/complicações , Hiperamonemia/diagnóstico , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/diagnóstico , Doenças do Sistema Nervoso/complicações , Doenças do Sistema Nervoso/diagnóstico , Ureia/metabolismo , Adolescente , Adulto , Criança , Pré-Escolar , Dietoterapia/métodos , Enzimas/metabolismo , Feminino , Humanos , Hiperamonemia/dietoterapia , Lactente , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/dietoterapia , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/dietoterapia , Nitrogênio/metabolismo , Ciências da Nutrição , Resultado do Tratamento
5.
Indian J Clin Biochem ; 22(2): 41-3, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23105680

RESUMO

Present clinical study involved two groups of psychosomatic disorders, bronchial asthma and rheumatoid arthritis. In the study, the levels of plasma cortisol, blood glucose, total cholesterol and triglycerides were estimated in 125 clinical subjects, (50 normal controls, and 40 having bronchial asthma and 35 suffering from rheumatoid arthritis. The results showed a significant change in the levels of plasma cortisol and blood glucose in both the stressed clinical groups' vis-à-vis normal controls. The levels of atherogenic lipids (total cholesterol and triglycerides) were found quite elevated in both the diseased groups. However, in rheumatoid arthritis, the physiological changes were relatively more pronounced. The findings of this study indicate that rheumatoid arthritis is a relatively more chronic and late onset disorder as the functional performance of hypothalamopituitary-adrenocortical axis gradually declines with passage of time and the ability of the adrenocortical response to return to normalcy becomes impaired.

6.
Hum Mutat ; 22(6): 434-41, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14635102

RESUMO

Cystathionine beta-synthase (CBS) deficiency is a rare autosomal recessive disorder that is the most frequent cause of clinical homocystinuria. Patients not treated in infancy have multi-systems disorders including dislocated lenses, mental deficiency, osteoporosis, premature arteriosclerosis, and thrombosis. In this paper, we examine the relationship of the clinical and biochemical phenotypes with the genotypes of 12 CBS deficient patients from 11 families from the state of Georgia, USA. By DNA sequencing of all of the coding exons we identified mutations in the CBS genes in 21 of the 22 possible mutant alleles. Ten different missense mutations were identified and one novel splice-site mutation was found. Five of the missense mutations were previously described (G307S, I278T, V320A, T353M, and L101P), while five were novel (A226T, N228S, A231L, D376N, Q526K). Each missense mutation was tested for function by expression in S. cerevisiae and all were found to cause decreased growth rate and to have significantly decreased levels of CBS enzyme activity. The I278T and T353M mutations accounted for 45% of the mutant alleles in this patient cohort. The T353M mutation, found exclusively in four African American patients, was associated with a B(6)-nonresponsive phenotype and detection by newborn screening for hypermethioninemia. The I278T mutation was found exclusively in Caucasian patients and was associated with a B(6)-responsive phenotype. We conclude that these two mutations occurred after ethnic socialization and that the CBS genotype is predictive of phenotype.


Assuntos
Cistationina beta-Sintase/deficiência , Cistationina beta-Sintase/genética , Homocistinúria/genética , Negro ou Afro-Americano/genética , Divisão Celular/efeitos dos fármacos , Divisão Celular/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Feminino , Frequência do Gene , Teste de Complementação Genética , Genótipo , Georgia , Glutationa/farmacologia , Homocistinúria/enzimologia , Homocistinúria/patologia , Humanos , Masculino , Mutação , Mutação de Sentido Incorreto , Fenótipo , Saccharomyces cerevisiae/efeitos dos fármacos , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/crescimento & desenvolvimento , População Branca/genética
7.
Neuroreport ; 3(6): 497-500, 1992 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-1391756

RESUMO

Four week swim exercise schedule (45 min day-1, 6 days each week) in rats led to a significant adaptive change in functional responsiveness of dopamine receptors (auto-receptors) in the nigrostriatal and mesolimbic system that was evident from the modification of behavioural responses elicited by a low dose of apomorphine, a direct acting dopamine receptor agonist. Thus, a remarkable increase in yawning response, development of full blown stereotypy, as well as profound attenuation of locomotory and hypothermic response was observed in exercise-trained rats as compared with the non-exercise group (control), following intraperitoneal administration of 0.3 mg kg-1 of apomorphine.


Assuntos
Apomorfina/farmacologia , Temperatura Corporal/fisiologia , Corpo Estriado/fisiologia , Sistema Límbico/fisiologia , Atividade Motora/fisiologia , Esforço Físico , Receptores Dopaminérgicos/fisiologia , Comportamento Estereotipado/fisiologia , Substância Negra/fisiologia , Bocejo/fisiologia , Análise de Variância , Animais , Temperatura Corporal/efeitos dos fármacos , Corpo Estriado/efeitos dos fármacos , Sistema Límbico/efeitos dos fármacos , Masculino , Atividade Motora/efeitos dos fármacos , Ratos , Ratos Endogâmicos , Receptores Dopaminérgicos/efeitos dos fármacos , Comportamento Estereotipado/efeitos dos fármacos , Substância Negra/efeitos dos fármacos , Natação , Bocejo/efeitos dos fármacos
8.
Physiol Behav ; 52(6): 1095-9, 1992 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-1283013

RESUMO

Alterations of 5HT and its chief metabolite 5HIAA were studied in four regions of the rat brain following acute 1-h swim exercise and 4 week chronic swim exercise (30 min/day, 6 days per week). Acute exercise significantly increased the synthesis and metabolism of 5HT in brain stem. Hypothalamus also showed increased levels of 5HT. However, no changes were observed in the cerebral cortex and hippocampus. Chronic exercise activated not only the synthesis but also the metabolism of 5HT in the cerebral cortex; this neuronal adaptation was sustained even 1 week after the termination of training. In brain stem, increased 5HT turnover was observed immediately after training. In hypothalamus, decrease in 5HT and 5HIAA levels occurred immediately after training, followed by a rebound increase in their levels after 1 week posttraining rest. In hippocampus, a delayed effect was observed, because 5HT level was unaltered immediately after the training, but its turnover decreased after 1 week rest. These findings have been discussed in an attempt to explain the antidepressant effect of exercise based on the 5HT deficiency theory of endogenous depression.


Assuntos
Nível de Alerta/fisiologia , Encéfalo/fisiologia , Esforço Físico/fisiologia , Serotonina/metabolismo , Animais , Ácido Hidroxi-Indolacético/metabolismo , Masculino , Ratos , Ratos Endogâmicos , Natação , Transmissão Sináptica/fisiologia
9.
J Am Diet Assoc ; 100(7): 797-803, 2000 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10916518

RESUMO

OBJECTIVE: To evaluate the effectiveness of an education intervention in a summer camp setting on knowledge, attitudes, and health beliefs regarding metabolic control of phenylketonuria and dietary compliance. DESIGN: An observational study of a weeklong metabolic camp for adolescent girls with phenylketonuria (PKU) who were followed up over the course of 1 year. Observations also were made in 3 subsequent years of camp. INTERVENTION: The camp experience consisted of diet and disease education, sessions on reproductive development, and recreation. Group discussions on attitudes and perceptions about PKU related to dietary compliance were held with nutritionists and a pediatric psychologist. OUTCOME MEASURES: Biochemical and psychological data were collected on the first and last days of the camp to assess short-term effects of the intervention, then at quarterly intervals during the year to determine the long-term impact of the camp. Precamp and Postcamp plasma amino acid data for the subsequent 3 years were also collected. SUBJECTS/SETTING: Analyses were based on 13 adolescent girls with PKU in the first year of a camp at Emory University in Atlanta, Ga, and compared with data from 11 additional campers enrolled the second year, 8 in the third year, and 7 in the fourth year. Mean age +/- standard deviation of first-year campers was 13 +/- 2 years, mean IQ +/- standard deviation was 98 +/- 16, and 9 of 13 girls had menstruated. STATISTICAL ANALYSES PERFORMED: Short-term effects of the intervention were computed by comparing mean levels of response from the baseline period to those from the last day of camp using t tests for dependent samples. Repeated-measures analysis of variance was used to assess the long-term effects of the camp experience over the course of a year at regular quarterly intervals. RESULTS: Short-term effects of the education intervention were significant reductions in dietary phenylalanine intake, plasma phenylalanine levels, and perceived isolation. However, these effects progressively returned to baseline levels over the course of a year. The significant short- and long-term effects of increased knowledge of diet and disease persisted throughout the study period. APPLICATIONS/CONCLUSIONS: Short-term effects of the education intervention resulted in improved metabolic control associated with improved attitudes, increased knowledge of diet and disease, increased perceived support, and decreased barriers to dietary compliance in a camp setting.


Assuntos
Acampamento , Conhecimentos, Atitudes e Prática em Saúde , Educação de Pacientes como Assunto/métodos , Fenilalanina/sangue , Fenilcetonúrias/dietoterapia , Adolescente , Análise de Variância , Atitude Frente a Saúde , Acampamento/classificação , Acampamento/psicologia , Criança , Feminino , Comportamentos Relacionados com a Saúde , Humanos , Cooperação do Paciente , Fenilalanina/administração & dosagem , Fenilcetonúrias/sangue , Fenilcetonúrias/psicologia , Isolamento Social/psicologia , Apoio Social , Inquéritos e Questionários , Fatores de Tempo
10.
J Ethnopharmacol ; 47(2): 75-84, 1995 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-7500639

RESUMO

Ayurveda is considered to be the traditional science of health in India and is based on the principle of subjectivity. All matter is composed of five basic elements, which can be perceived by the five sense organs. All food and drugs are classified according to their pharmacological properties, which are derived from these five elements. To investigate which Ayurvedic plants might have cytostatic activity, an Ayurvedic model for the pathogenesis of cancer was made. Based on this, selection criteria were formed, that were used to select plants from a list of Ayurvedic herbal drugs. Some of the selected species could be collected in India and Nepal. The dried material of 14 species was submitted to ethanol (70% v/v) extraction and the extracts were tested for cytotoxicity on COLO 320 tumour cells, using the microculture tetrazolium (MTT) assay. The IC50-value, the concentration causing 50% growth inhibition of the tumour cells, was used as a parameter for cytotoxicity. Extracts of the flowers of Calotropis procera (Ait.) R. Br. (Asclepiadaceae) and of the nuts of Semecarpus anacardium L.f. (Anacardiaceae) displayed the strongest cytotoxic effect with IC50-values of 1.4 micrograms/ml and 1.6 micrograms/ml, respectively. The extracts of several other plants did not show a cytotoxic effect up to 100 micrograms/ml, the highest concentration tested.


Assuntos
Antineoplásicos/farmacologia , Ayurveda , Extratos Vegetais/farmacologia , Animais , Divisão Celular/efeitos dos fármacos , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/patologia , Corantes/química , Etanol/química , Humanos , Índia , Camundongos , Neoplasias/tratamento farmacológico , Neoplasias/patologia , Neoplasias/fisiopatologia , Nepal , Relação Estrutura-Atividade , Sais de Tetrazólio/química , Células Tumorais Cultivadas
11.
Indian J Gastroenterol ; 22(3): 88-90, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12839379

RESUMO

BACKGROUND: Irritable bowel syndrome (IBS) is generally considered to have a psychogenic component in its physiopathology. AIM: To study the role of serotonin (5-hydroxytryptamine; 5-HT), monoamine oxidase (MAO) and anxiety, and to elucidate the relationship between these in patients with diarrhea-predominant IBS. METHODS: 5-HT and MAO activity and anxiety levels were studied in 20 healthy volunteers (aged 18-25 years; all men) and 57 patients with diarrhea-predominant IBS (30-60 years; all men). RESULTS: The concentrations of 5-HT (0.3 [0.04] microg/ mL) and MAO (15.5 [3.2] U/mL), and the anxiety level score (14.4 [2.9]) were significantly higher (p < 0.001) in patients than in healthy volunteers (0.1 [0.02], 6.4 [1.4] and 3.4 [1.2], respectively). These parameters correlated with each other in both patients and volunteers. CONCLUSIONS: Elevated 5-HT and MAO activity and anxiety may play a role in patients with diarrhea-predominant IBS.


Assuntos
Ansiedade/metabolismo , Doenças Funcionais do Colo/metabolismo , Diarreia/complicações , Monoaminoxidase/metabolismo , Serotonina/metabolismo , Adolescente , Adulto , Biomarcadores/sangue , Doenças Funcionais do Colo/complicações , Diarreia/metabolismo , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Estatística como Assunto
12.
Artigo em Inglês | MEDLINE | ID: mdl-22000478

RESUMO

Low blood docosahexaenoic acid (DHA) is reported in patients with phenylketonuria (PKU); however, the functional implications in adolescents and adults are unknown. This pilot study investigated the effect of supplemental DHA on cognitive performance in 33 females with PKU ages 12-47 years. Participants were randomly assigned to receive DHA (10mg/kg/day) or placebo for 4.5 months. Performance on cognitive processing speed and executive functioning tasks was evaluated at baseline and follow up. Intention-to-treat and per protocol analyses were performed. At follow up, biomarkers of DHA status were significantly higher in the DHA-supplemented group. Performance on the cognitive tasks and reported treatment-related adverse events did not differ. While no evidence of cognitive effect was seen, a larger sample size is needed to be conclusive, which may not be feasible in this population. Supplementation was a safe and effective way to increase biomarkers of DHA status (www.clinicaltrials.gov; Identifier: NCT00892554).


Assuntos
Cognição/efeitos dos fármacos , Suplementos Nutricionais , Ácidos Docosa-Hexaenoicos/uso terapêutico , Nootrópicos/uso terapêutico , Fenilcetonúrias/tratamento farmacológico , Adolescente , Ácidos Docosa-Hexaenoicos/efeitos adversos , Ácidos Docosa-Hexaenoicos/farmacologia , Método Duplo-Cego , Eritrócitos/metabolismo , Ácidos Graxos/sangue , Ácidos Graxos/metabolismo , Feminino , Humanos , Testes de Inteligência , Nootrópicos/efeitos adversos , Nootrópicos/farmacologia , Cooperação do Paciente , Projetos Piloto , Adulto Jovem
13.
Ayu ; 31(2): 153-8, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22131703

RESUMO

Depression is a common diagnosis throughout India. It is one of the major sequelae of modern lifestyle which is full of stress. Several drugs and therapies have been tried but a safe and effective treatment of depressive illness is yet not fully established. The main objective of this experimental study on animal models is to evaluate the antidepressant action of plant drug Vacha (Acorus calamus). The behavioral study was conducted and at the same time 5-HT receptor involvement was evaluated. The experimental study was done in rats to evaluate their Open Field Behavior (OFB), High Plus Maze (HPM) activity and 5-hydroxytryptamine (5-HT) receptor syndrome, before and after feeding Vacha. Concurrent Vacha administration in the depression model prevented the development of behavioral deficit in ambulation and rearing due to stress. Similarly, in High Plus Maze Test (HPMT), exploratory activity of rat was restored with Vacha administration. In adopted model of depression, when the animal was subjected to Vacha administration, the behavioural deficit was prevented very well as compared to stressed group. While eliciting the 5-HT syndrome, only two components out of five were influenced by Vacha, indicating that Vacha does not sensitize postsynaptic 5-HT1A receptors, which explains the behavioral deficit prevention in stressed rat group. Vacha definitely has antidepressant effects in animal model of depression.

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