RESUMEN
BACKGROUND: The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. METHODS: Information on clinical and laboratory data at initial full assessment and during the course of the disease, treatment, outcome and quality of life was obtained in a survey-based, retrospective study from physicians caring for patients with the CblE or CblG defect. In addition, data on enzyme studies in cultured skin fibroblasts and mutations in the MTRR and MTR gene were analysed. RESULTS: In 11 cblE and 13 cblG patients, failure to thrive, feeding problems, delayed milestones, muscular hypotonia, cognitive impairment and macrocytic anaemia were the most frequent symptoms. Delay in diagnosis depended on age at first symptom and clinical pattern at presentation and correlated significantly with impaired communication abilities at follow-up. Eighteen/22 patients presented with brain atrophy or white matter disease. Biochemical response to treatment with variable combinations of betaine, cobalamin, folate was significant. The overall course was considered improving (n = 8) or stable (n = 15) in 96% of patients, however the average number of CNS symptoms per patient increased significantly over time and 16 of 23 patients were classified as developmentally delayed or severely handicapped. In vitro enzyme analysis data showed no correlation with outcome. Predominantly private mutations were detected and no genotype- phenotype correlations evident. CONCLUSIONS: The majority of patients with the cblE and cblG defect show limited clinical response to treatment and have neurocognitive impairment.
Asunto(s)
5-Metiltetrahidrofolato-Homocisteína S-Metiltransferasa/deficiencia , Errores Innatos del Metabolismo de los Aminoácidos , Vitamina B 12/metabolismo , 5-Metiltetrahidrofolato-Homocisteína S-Metiltransferasa/genética , 5-Metiltetrahidrofolato-Homocisteína S-Metiltransferasa/metabolismo , Adolescente , Edad de Inicio , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/genética , Errores Innatos del Metabolismo de los Aminoácidos/terapia , Células Cultivadas , Niño , Preescolar , Progresión de la Enfermedad , Femenino , Ferredoxina-NADP Reductasa/deficiencia , Ferredoxina-NADP Reductasa/genética , Ferredoxina-NADP Reductasa/metabolismo , Humanos , Lactante , Recién Nacido , Masculino , Metilación , Embarazo , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
OBJECTIVE: Increased levels of 8-isoprostane were found in various human lung diseases suggesting 8-isoprostane as a marker of pulmonary oxidative stress in vivo. The exact role in pediatric lung diseases has not been defined yet. The goal of this study was to clarify the role of 8-isoprostane in nasally exhaled breath condensate as possible marker of oxidative stress in children with different lung diseases. METHODS: Levels of 8-isoprostane were measured in nasally exhaled breath condensate of 29 cystic fibrosis patients, 19 children with a history of wheezing episodes, 8 infants with acute respiratory tract infection and 53 healthy subjects using a specific enzyme immunoassay. RESULTS: Levels of 8-isoprostane did neither discriminate between different disease groups nor correlate with lung function in cystic fibrosis patients. CONCLUSIONS: Levels of 8-isoprostane in nasally exhaled breath condensate do not reflect oxidative stress in children with different lung diseases.
Asunto(s)
Dinoprost/análogos & derivados , Enfermedades Pulmonares/metabolismo , Estrés Oxidativo , Adolescente , Adulto , Factores de Edad , Biomarcadores/análisis , Pruebas Respiratorias , Niño , Preescolar , Dinoprost/análisis , Humanos , Inmunoensayo , Lactante , Pruebas de Función Respiratoria , Estadísticas no ParamétricasRESUMEN
BACKGROUND: We examined agreement between self and proxy reports of paternal drinking and smoking behaviour using data collected as part of the prospective, population-based Avon (England) Longitudinal Study of Pregnancy and Childhood. METHODS: Information on the smoking and drinking habits of pregnant women's male partners was obtained through self-administered questionnaires completed by pregnant participants and by their partners. For dichotomous indicators (e.g. smoker versus non-smoker), we evaluated self/proxy agreement by calculating Kappa coefficients and per cent agreement. For ordinal measures of smoking and drinking amounts, we calculated per cent perfect agreement, per cent agreement within one category, and Spearman correlation coefficients. Data from 8414 respondent pairs were included in the analyses. RESULTS: Men's and women's reports of paternal smoking and drinking status were in nearly complete agreement (95% and 98%, respectively). For analyses of smoking and drinking amounts, agreement within one category remained high (90% and 98% for smoking and drinking, respectively), but perfect agreement on amount was somewhat lower (81% and 71%, respectively). Per cent perfect agreement on smoking amount was especially low (50%) when non-smokers were excluded. When couples' reports were not in perfect agreement, women tended to report lower amounts of smoking and drinking for their partners compared to the men's self reports. CONCLUSIONS: Our results suggest that women's proxy reports of their partners' drinking and smoking status can be used with considerable confidence in reproductive epidemiological studies when the enrollment of both women and men as participants is infeasible for financial or logistical reasons. Caution is warranted, however, when proxy reports are used for more detailed information on smoking and drinking amounts.
Asunto(s)
Consumo de Bebidas Alcohólicas/epidemiología , Fumar/epidemiología , Esposos/estadística & datos numéricos , Adulto , Escolaridad , Inglaterra/epidemiología , Métodos Epidemiológicos , Femenino , Humanos , Estudios Longitudinales , Masculino , Estado Civil , Exposición Materna , Persona de Mediana Edad , Variaciones Dependientes del Observador , Embarazo , Resultado del Embarazo , Estudios Prospectivos , Reproducibilidad de los Resultados , Reproducción , Factores de Riesgo , Encuestas y Cuestionarios , Población BlancaRESUMEN
When the two sexes were contrasted, Pima Indian males showed larger crown dimensions and more pronounced expressions of two morphologic variables, the Carabelli trait and the lower canine distal accessory ridge. In addition, a significant positive relationship was found between crown size and degree of expression of the morphologic traits. When regression analysis was utilized to control for male-female tooth size differences, the moderate dimorphism shown by Carabelli trait was reduced by about half. The more dimorphic distal accessory ridge, related primarily to mesio-distal diameter, also showed a lesser sex difference when crown size effects were held constant. While size dimorphism does contribute to morphologic dimorphism, factors unrelated to crown size still contribute the majority of variance present in trait expression both within and between sexes.
Asunto(s)
Caracteres Sexuales , Diente/anatomía & histología , Diente Canino/anatomía & histología , Femenino , Humanos , Indígenas Norteamericanos , Masculino , Diente Molar/anatomía & histología , Odontometría , Análisis de RegresiónRESUMEN
We examined the association of maternal drinking before and during early pregnancy on infant birthweight, using data collected from a population-based cohort in Avon Country, England. Participants completed several self-administered questionnaires during their index pregnancy. Our analysis included 10,539 women who provided drinking data and delivered a liveborn singleton child. Infants born to women who reported drinking one to two drinks daily with at least one binge, or three or more drinks daily with or without binges, had an adjusted mean birthweight approximately 150 gm less than that of infants whose mothers reported abstaining during (but not before) pregnancy. Mean birthweights were similar for infants of prepregnancy drinkers who drank weekly in early pregnancy, less than weekly, or not at all.
Asunto(s)
Consumo de Bebidas Alcohólicas/efectos adversos , Peso al Nacer/efectos de los fármacos , Fertilización/efectos de los fármacos , Conducta Materna/efectos de los fármacos , Primer Trimestre del Embarazo/efectos de los fármacos , Consumo de Bebidas Alcohólicas/epidemiología , Consumo de Bebidas Alcohólicas/psicología , Estudios de Cohortes , Inglaterra/epidemiología , Femenino , Edad Gestacional , Humanos , Recién Nacido , Edad Materna , Conducta Materna/psicología , Embarazo , Encuestas y CuestionariosRESUMEN
Workers in abattoirs and meatpacking plants have potential for exposure to bovine leukemia virus (BLV) and bovine papilloma viruses (BPV), which are oncogenic in cattle. These workers also have increased exposure to human papilloma viruses (HPV) and certain chemical carcinogens. We investigated whether such a group showed increased risk of cancers. We report mortality results after an additional 9-year follow-up of a previously studied group of 5,522 workers in abattoirs and 4,589 workers in meatpacking plants. Excess risk of all cancers combined, cancers of the lung, buccal cavity and pharynx, esophagus, colon, bladder, kidney, and bone was observed. Since factors such as tobacco smoking, alcohol, and diet, which have known associations with some of these cancers, were not taken into account, the significance of these findings is not known, except for lung cancer, for which occupational factors are probably involved. Because some of these findings have been consistently reported before, studies that will control for confounding factors as well are now urgently needed.
Asunto(s)
Mataderos , Industria para Empaquetado de Carne , Neoplasias/mortalidad , Enfermedades Profesionales/mortalidad , Papillomavirus Bovino 1 , Carcinógenos , Estudios de Cohortes , Neoplasias del Colon/mortalidad , Factores de Confusión Epidemiológicos , Neoplasias Esofágicas/mortalidad , Femenino , Estudios de Seguimiento , Humanos , Virus de la Leucemia Bovina , Neoplasias Pulmonares/mortalidad , Masculino , Persona de Mediana Edad , New Jersey/epidemiología , Exposición Profesional , Papillomaviridae , Factores de Riesgo , Factores SexualesRESUMEN
Previous studies of paternal drinking and fetal growth in both animals and human have produced conflicting results. We evaluated the association between paternal drinking before conception and infant birth weight in a cohort of 9,845 liveborn singleton infant born to couples who participated in the Avon Longitudinal Study of Pregnancy and Childhood (ALSPAC), ALSPAC is a population-based cohort study in which women and their partners completed several self-administered questionnaires over the course of pregnancy. Of participating male partners, 20% were reportedly daily drinkers before conception, and 8% were considered moderately heavy or very heavy drinkers. Because maternal drinking is highly correlated with paternal, the analyses were stratified by maternal drinking in early pregnancy. We also adjusted for confounders and known predictors of birth weight. For all three maternal drinking strata, all adjusted mean differences in birth weight across levels of paternal drinking were similar, and all had confidence intervals that included zero. These findings persisted even after adjustment for other covariates and after stratification by parental smoking, race, and education. The size of the ALSPAC cohort, the large number of heavy drinkers, and the availability of data from the fathers themselves support the conclusion that paternal drinking before conception is not an important predictor of infant birth weight in humans.
Asunto(s)
Consumo de Bebidas Alcohólicas/efectos adversos , Alcoholismo/complicaciones , Peso al Nacer , Fertilización , Adulto , Estudios Transversales , Inglaterra , Padre , Femenino , Edad Gestacional , Humanos , Recién Nacido , Masculino , Persona de Mediana Edad , Embarazo , Encuestas y CuestionariosRESUMEN
Asymmetry in mesiodistal and buccolingual crown diameters and in eight morphologic crown traits of permanent first and second molars was analyzed in a large Pima Indian sample. Analysis of antimeric differences indicates no consistent evidence for directional asymmetry in Pima molars for either dimensions or morphologic traits. Second molars show greater degrees of metric and morphologic asymmetry than first molars. There is no conclusive evidence for either sex differences in magnitude of asymmetry or relationships between tooth size and morphologic asymmetry. Nonparametric correlations computed between asymmetry in crown dimensions and morphological traits show no significant interaction except where morphological trait development affected crown measurements. The distributions of antimeric differences for dimensional and morphologic traits demonstrate significant leptokurtic deviations from normality. This indicates fluctuating asymmetry in Pima Indians may result from several different sources of developmental variation.
Asunto(s)
Indígenas Norteamericanos , Diente Molar/anatomía & histología , Arizona , Femenino , Humanos , Masculino , Odontometría , Factores SexualesRESUMEN
Fourteen morphologic crown traits were observed in a sample of 1528 Pima Indians of south-central Arizona. Pima dentitions are characterized by high frequencies of shoveling, incisor winging, the hypocone, the lower canine distal accessory ridge, cusp 6, and the protostylid. They exhibit low frequencies of the metaconule and lower premolar multiple lingual cusps and moderate frequencies of the canine tubercle, Carabelli's trait, cusp 7, and lower second molars with four cusps and X groove patterns. When Pima crown trait frequencies were compared to those of 13 Southwest Indian samples, their closest affinities were to other Uto-Aztecan groups, the Papago and Hopi. The Pima are most divergent from Athapaskans and are also clearly removed from Yuman speaking groups and the Zuni. In general, the pattern of dental morphologic variation in the Southwest corresponds closely to linguistic divisions.