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1.
Eur Child Adolesc Psychiatry ; 31(2): 229-238, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33320300

RESUMO

Suicide is one of the leading causes of death in adolescents and help-seeking behaviour for suicidal behaviour is low. School-based screenings can identify adolescents at risk for suicidal behaviour and might have the potential to facilitate service use and reduce suicidal behaviour. The aim of this study was to assess associations of a two-stage school-based screening with service use and suicidality in adolescents (aged 15 ± 0.9 years) from 11 European countries after one year. Students participating in the 'Saving and Empowering Young Lives in Europe' (SEYLE) study completed a self-report questionnaire including items on suicidal behaviour. Those screening positive for current suicidality (first screening stage) were invited to an interview with a mental health professional (second stage) who referred them for treatment, if necessary. At 12-month follow-up, students completed the same self-report questionnaire including questions on service use within the past year. Of the N = 12,395 SEYLE participants, 516 (4.2%) screened positive for current suicidality and were invited to the interview. Of these, 362 completed the 12-month follow-up with 136 (37.6%) self-selecting to attend the interview (screening completers). The majority of both screening completers (81.9%) and non-completers (91.6%) had not received professional treatment within one year, with completers being slightly more likely to receive it (χ2(1) = 8.948, V = 0.157, p ≤ 0.01). Screening completion was associated with higher service use (OR 2.695, se 1.017, p ≤ 0.01) and lower suicidality at follow-up (OR 0.505, se 0.114, p ≤ 0.01) after controlling for potential confounders. This school-based screening offered limited evidence for the improvement of service use for suicidality. Similar future programmes might improve interview attendance rate and address adolescents' barriers to care.


Assuntos
Ideação Suicida , Prevenção do Suicídio , Adolescente , Humanos , Saúde Mental , Fatores de Risco , Estudantes , Inquéritos e Questionários
2.
Patient Educ Couns ; 102(6): 1111-1118, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30744965

RESUMO

OBJECTIVE: Unexplained medical terminology impedes clinician/parent communication. We describe jargon use in a pediatric surgical setting. METHODS: We evaluated encounters between parents of children with sleep-disordered breathing (SDB; n = 64) and otolaryngologists (n = 8). Participants completed questionnaires evaluating demographics, clinical features, and parental role in decision-making via a 4-point categorical item. Two coders reviewed consultations for occurrence of clinician and parent utterance of medical jargon. Descriptive statistics established a profile of jargon use, and logistic regression evaluated associations between communication factors with jargon use. RESULTS: Unexplained medical jargon was common (mean total utterances per visit = 28.9,SD = 19.5,Range = 5-100), including SDB-specific jargon (M = 8.3,SD = 8.8), other medical terminology (M = 13.9,SD = 12) and contextual terms (M = 3.8,SD = 4). Parents used jargon a mean of 4.3 times (SD = 4.6). Clinicians used more jargon in consults where they perceived parents as having greater involvement in decision-making (OR = 3.4,p < 0.05) and when parents used more jargon (OR = 1.2,p < 0.05). CONCLUSIONS: Jargon use in pediatric surgical consultations is common and could serve as a barrier to informed or shared parent decision-making. This study provides a foundation for further research into patterns of jargon use across surgical populations. PRACTICE IMPLICATIONS: Results will be integrated into communication training to enhance clinician communication, foster self-awareness in language use, and create strategies to evaluate parental understanding.


Assuntos
Tomada de Decisões , Pais/psicologia , Relações Profissional-Família , Terminologia como Assunto , Adulto , Criança , Feminino , Humanos , Masculino , Síndromes da Apneia do Sono , Inquéritos e Questionários
3.
Eur Child Adolesc Psychiatry ; 26(11): 1319-1329, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28386649

RESUMO

Early onset and long-term smoking are associated with physical and psychological health problems. The aim of the presented analysis was to investigate risk and influencing factors for different smoking status in a big sample of European adolescents. In the context of the "saving and empowering young lives in Europe" (SEYLE) study we surveyed 12,328 adolescents at the age of 13-17 from 11 countries. The survey took place in a school-based context using a questionnaire. Overall 58% reported the onset of ever-smoking under the age of 14 and 30.9% smoke on a daily basis. Multinomial logistic regression model showed significant positive associations between adolescent smoking and internalizing problems (suicidal behavior, direct self-injurious behavior, anxiety), externalizing problems (conduct problems, hyperactivity, substance consumption) and family problems (parental substance consumption, broken home). Our data show that smoking among adolescents is still a major public health problem and adolescents who smoke are at higher risk for mental problems. Further, adolescent smoking is associated with broken home families and parental behaviors. Therefore, early preventive measures are necessary not only for adolescents, but also for their parents.


Assuntos
Fumar/efeitos adversos , Adolescente , Etnicidade , Europa (Continente) , Feminino , Humanos , Masculino , Inquéritos e Questionários
4.
J Affect Disord ; 183: 68-74, 2015 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-26001665

RESUMO

BACKGROUND: Joiner's interpersonal theory of suicide (IPTS) proposes that suicide results from the combination of a perception of burdening others, social alienation, and the capability for self-harm. The theory gained some empirical support, however the overall model has yet to be tested. This study aimed to test the main predictions of IPTS in a large community sample of Israeli adolescents. METHOD: 1196 Israeli Jewish and Arab high-school pupils participating in the SEYLE project completed a self-report questionnaire measuring perceived burdensomeness, thwarted belongingness, health risk behaviors, and non-suicidal self-injury (risk variables), and suicidal ideation and suicide attempts (outcome measures). The data were tested in cross-sectional regression models. RESULTS: Consistent with IPTS, perceived burdensomeness was found to interact with thwarted belongingness, predicting suicidal ideation. Depression mediated most of the effect of thwarted belongingness and perceived burdensomeness on suicidal ideation. Acquired capability for self-harm, as measured by health risk behaviors and direct non-suicidal self-injurious behaviors, predicted suicide attempt. However, this mechanism operated independently from ideation rather than in interaction with it, at variance with IPTS-based predictions. LIMITATIONS: The cross-sectional design precludes conclusions about causality and directionality. Proxy measures were used to test the interpersonal theory constructs. CONCLUSION: The findings support some of the IPTS predictions but not all, and imply two separate pathways for suicidal behavior in adolescents: one related to internalizing psychopathology and the other to self-harm behaviors. This conceptualization has clinical implications for the differential identification of adolescents at risk for suicidal behavior and for the development of prevention strategies.


Assuntos
Comportamento do Adolescente/psicologia , Relações Interpessoais , Assunção de Riscos , Comportamento Autodestrutivo/psicologia , Ideação Suicida , Adolescente , Árabes/estatística & dados numéricos , Estudos Transversais , Depressão , Feminino , Humanos , Judeus/estatística & dados numéricos , Masculino , Teoria Psicológica , Fatores de Risco , Suicídio/psicologia , Tentativa de Suicídio/psicologia , Inquéritos e Questionários
5.
Ir Med J ; 107(10): 310-3, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25551899

RESUMO

This study examined victimisation, substance misuse, relationships, sexual activity, mental health difficulties and suicidal behaviour among adolescents with sexual orientation concerns in comparison to those without such concerns. 1112 Irish students (mean age 14 yrs) in 17 mixed-gender secondary schools completed a self-report questionnaire with standardised scales and measures of psychosocial difficulties. 58 students (5%) reported having concerns regarding their sexual orientation. Compared with their peers, they had higher levels of mental health difficulties and a markedly-increased prevalence of attempted suicide (29% vs. 2%), physical assault (40% vs. 8%), sexual assault (16%vs. 1%) and substance misuse. Almost all those (90%) with sexual orientation concerns reported having had sex compared to just 4% of their peers. These results highlight the significant difficulties associated with sexual orientation concerns in adolescents in Ireland. Early and targeted interventions are essential to address their needs.


Assuntos
Comportamento do Adolescente/psicologia , Bullying/psicologia , Comportamento Sexual/psicologia , Estudantes/psicologia , Estudantes/estatística & dados numéricos , Adolescente , Consumo de Bebidas Alcoólicas/psicologia , Feminino , Humanos , Relações Interpessoais , Masculino , Ideação Suicida
6.
Psychopathology ; 46(1): 1-13, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-22854219

RESUMO

BACKGROUND: Pathological Internet use (PIU) has been conceptualized as an impulse-control disorder that shares characteristics with behavioral addiction. Research has indicated a potential link between PIU and psychopathology; however, the significance of the correlation remains ambiguous. The primary objective of this systematic review was to identify and evaluate studies performed on the correlation between PIU and comorbid psychopathology; the secondary aims were to map the geographical distribution of studies, present a current synthesis of the evidence, and assess the quality of available research. SAMPLING AND METHODS: An electronic literature search was conducted using the following databases: MEDLINE, PsycARTICLES, PsychINFO, Global Health, and Web of Science. PIU and known synonyms were included in the search. Data were extracted based on PIU and psychopathology, including depression, anxiety, symptoms of attention deficit and hyperactivity disorder (ADHD), obsessive-compulsive symptoms, social phobia and hostility/aggression. Effect sizes for the correlations observed were identified from either the respective publication or calculated using Cohen's d or R(2). The potential effect of publication bias was assessed using a funnel plot model and evaluated by Egger's test based on a linear regression. RESULTS: The majority of research was conducted in Asia and comprised cross-sectional designs. Only one prospective study was identified. Twenty articles met the preset inclusion and exclusion criteria; 75% reported significant correlations of PIU with depression, 57% with anxiety, 100% with symptoms of ADHD, 60% with obsessive-compulsive symptoms, and 66% with hostility/aggression. No study reported associations between PIU and social phobia. The majority of studies reported a higher rate of PIU among males than females. The relative risks ranged from an OR of 1.02 to an OR of 11.66. The strongest correlations were observed between PIU and depression; the weakest was hostility/aggression. CONCLUSIONS: Depression and symptoms of ADHD appeared to have the most significant and consistent correlation with PIU. Associations were reported to be higher among males in all age groups. Limitations included heterogeneity in the definition and diagnosis of PIU. More studies with prospective designs in Western countries are critically needed.


Assuntos
Transtornos de Ansiedade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Comportamento Aditivo/epidemiologia , Transtornos Disruptivos, de Controle do Impulso e da Conduta/epidemiologia , Internet , Agressão/psicologia , Transtornos de Ansiedade/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Comportamento Aditivo/psicologia , Comorbidade , Transtornos Disruptivos, de Controle do Impulso e da Conduta/psicologia , Feminino , Hostilidade , Humanos , Masculino
7.
Teratology ; 60(3): 124-9, 1999 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10471895

RESUMO

Electric and magnetic fields are of concern as risk factors for adverse reproductive outcomes, including congenital anomalies. Among residential exposures to electric and magnetic fields, electric bed-heating devices such as electric blankets may be a substantial source of such exposures, and their use is fairly common. Two population-based case-control studies were analyzed to investigate whether the periconceptional use of electric blankets, bed warmers, or electrically heated waterbeds increased the risk of women to deliver infants or fetuses with neural tube defects (NTDs) or orofacial clefts. We obtained information on bed-heating devices from 538 NTD cases and their 539 controls in one study, and 265 NTD cases and 481 controls and 652 orofacial cleft cases and their 734 controls from another study. Our results revealed a few modestly elevated risks of certain anomaly phenotypes with maternal use of certain bed-heating devices, but risks tended to be imprecise. In general, women who reported more frequent use of a bed-heating device, or longer duration of use, did not appear to have a higher risk for delivering offspring with anomalies than were women who reported less frequent or shorter-duration use.


Assuntos
Campos Eletromagnéticos/efeitos adversos , Face/anormalidades , Defeitos do Tubo Neural/etiologia , Feminino , Humanos , Exposição Materna , Gravidez , Fatores de Risco
8.
Am J Surg Pathol ; 23(7): 809-14, 1999 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10403304

RESUMO

Mullerian adenosarcoma is an uncommon variant of uterine sarcoma. Twelve uterine adenosarcomas were diagnosed during a 42-month period at the Washington Hospital Center in Washington, DC. Based on estimated incidence data derived from the US Department of Defense beneficiary population, an estimated relative risk of 15.4 (95% confidence interval, 7.7-31.0) was calculated, indicating a significantly increased incidence of adenosarcoma in the population studied (p<0.0000001). Among 10 patients who underwent hysterectomy, six (60%) of their tumors had sarcomatous overgrowth. In comparison with the previously reported proportion of adenosarcomas with sarcomatous overgrowth, approximately 16%, the proportion with sarcomatous overgrowth was significantly higher than expected (p<0.01). Mullerian adenosarcoma with sarcomatous overgrowth was first described in 1989 and suggests that the cluster of adenosarcomas reported herein may be due in part to the current classification of some uterine tumors as adenosarcoma with sarcomatous overgrowth that previously would have been classified as other types of uterine sarcoma. Nonetheless, even after reviewing and updating the classification of all sarcomas diagnosed at the Washington Hospital Center from 1985 to 1998, the ratio of adenosarcomas to uterine adenocarcinomas during the 1994-1998 period was 4.7 times (p<0.005) that of the 1985-1993 period, suggesting a more modest but real increase in the occurrence of this tumor. Correct classification of mullerian adenosarcomas with sarcomatous overgrowth is important because the limited available data suggest that the prognosis is notably worse than that for adenosarcomas without sarcomatous overgrowth.


Assuntos
Adenossarcoma/epidemiologia , Adenossarcoma/patologia , Tumor Mulleriano Misto/epidemiologia , Tumor Mulleriano Misto/patologia , Neoplasias Uterinas/epidemiologia , Neoplasias Uterinas/patologia , Adenossarcoma/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise por Conglomerados , District of Columbia , Feminino , Seguimentos , Humanos , Incidência , Pessoa de Meia-Idade , Tumor Mulleriano Misto/mortalidade , Risco , Resultado do Tratamento , Neoplasias Uterinas/mortalidade
9.
Epidemiology ; 10(1): 60-6, 1999 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9888281

RESUMO

We explored the relation between various potential sources of maternal periconceptional pregnancy exposures to pesticides and congenital anomalies in offspring. Data were derived from a case-control study of fetuses and liveborn infants with orofacial clefts, neural tube defects, conotruncal defects, or limb anomalies, among 1987-1989 California births and fetal deaths. We conducted telephone interviews with mothers of 662 (85% of eligible) orofacial cleft cases, 265 (84%) neural tube defect cases, 207 (87%) conotruncal defect cases, 165 (84%) limb cases, and 734 (78%) nonmalformed controls. The odds ratio (OR) estimates did not indicate increased risk for any of the studied anomaly groups among women whose self-reported occupational tasks were considered by an industrial hygienist likely to involve pesticide exposures. Paternal occupational exposure to pesticides, as reported by the mother, revealed elevated ORs for only two of the cleft phenotypes [OR = 1.7 [95% confidence interval (CI) = 0.9-3.4] for multiple cleft lip with/without cleft palate and OR = 1.6 [95% CI = 0.7-3.4] for multiple cleft palate]. Use of pesticide products for household gardening, by mothers or by professional applicators, was associated with ORs > or =1.5 for most of the studied anomalies. Use of pesticide products for the control of pests in or around homes was not associated with elevated risks for most of the studied anomalies, although women who reported that a professional applied pesticides to their homes had increased risks for neural tube defect-affected pregnancies [OR = 1.6 (95% CI = 1.1-2.5)] and limb anomalies [OR = 1.6 (95% CI = 1.0-2.7)]. Having a pet cat or dog and treating its fleas was not associated with increased anomaly risk. Women who reported living within 0.25 miles of an agricultural crop revealed increased risks for offspring with neural tube defects [OR = 1.5 (95%CI = 1.1-2.1)]. For many of the comparisons, data were sparse, resulting in imprecise effect estimation. Despite our investigating multiple sources of potential pesticide exposures, without more specific information on chemical and level of exposure, we could not adequately discriminate whether the observed effects are valid, whether biased exposure reporting contributed to the observed elevated risks, or whether nonspecific measurement of exposure was responsible for many of the observed estimated risks not being elevated.


Assuntos
Anormalidades Congênitas/epidemiologia , Exposição Materna/estatística & dados numéricos , Praguicidas , Adulto , Estudos de Casos e Controles , Anormalidades Congênitas/etiologia , Feminino , Humanos , Recém-Nascido , Masculino , Exposição Materna/efeitos adversos , Análise Multivariada , Exposição Paterna , Praguicidas/efeitos adversos , Gravidez , Resultado da Gravidez , Medição de Risco
10.
Am J Public Health ; 88(11): 1674-80, 1998 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9807535

RESUMO

OBJECTIVES: This study evaluated the contributions of lower socioeconomic status (SES) and neighborhood socioeconomic characteristics to neural tube defect etiology. The influence of additional factors, including periconceptional multivitamin use and race/ethnicity, was also explored. METHODS: Data derived from a case-control study of California pregnancies from 1989 to 1991. Mothers of 538 (87.8% of eligible) case infants/fetuses with neural tube defects and mothers of 539 (88.2%) nonmalformed infants were interviewed about their SES. Reported addresses were linked to 1990 US census information to characterize neighborhoods. RESULTS: Twofold elevated risks were observed for several SES indicators. Risks were somewhat confounded by vitamin use, race/ethnicity, age, body mass index, and fever but remained elevated after adjustment. A risk gradient was seen with increasing number of lower SES indicators. Women with 1 to 3 and 4 to 6 lower SES indicators had adjusted odds ratios of 1.6 (1.1-2.2) and 3.2 (1.9-5.4), respectively, compared with women with no lower SES indicators. CONCLUSIONS: Both lower SES and residence in a SES-lower neighborhood increased the risk of an neural tube defect-affected pregnancy, with risks increasing across a gradient of SES indicators.


Assuntos
Defeitos do Tubo Neural/etiologia , Pobreza/estatística & dados numéricos , Características de Residência/estatística & dados numéricos , Condições Sociais/estatística & dados numéricos , Adulto , California , Estudos de Casos e Controles , Feminino , Humanos , Estado Nutricional , Razão de Chances , Gravidez , Grupos Raciais , Fatores de Risco , Inquéritos e Questionários
11.
Am J Med Genet ; 79(1): 42-7, 1998 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-9738868

RESUMO

To investigate variations in the prevalence of oral cleft anomalies according to parental race and ethnicity and maternal country of birth, the authors analyzed a cohort of 2,221,755 live births and fetal deaths delivered between 1983 and 1992 to residents of California. A total of 2,329 cleft lip with or without cleft palate (CL +/- P) cases and 1,475 cleft palate alone (CP) cases were identified by the California Birth Defects Monitoring Program, a population-based registry. Compared to Whites, the prevalence of CL +/- P was lower among African Americans (prevalence ratio (PR) = 0.56, 95% confidence interval (CI) = 0.45-0.69), higher among Native Americans (PR = 1.81, CI = 1.20-2.69), and the same among the Japanese (PR = 1.07, CI = 0.62-1.82) and Chinese (PR = 0.96, CI = 0.71-1.29). The risk of CL +/- P was slightly lower among the offspring of foreign-born Chinese women relative to U.S.-born Chinese women (PR = 0.71, CI = 0.33-1.57), and slightly higher among foreign-born Filipinos relative to their U.S.-born counterparts (PR = 1.37, CI = 0.57-3.53), although confidence intervals around these risk estimates were wide owing to sparse data. For CP, lower prevalences were observed among African Americans (PR = 0.72, CI = 0.58-0.91) and Hispanics (PR = 0.77, CI = 0.67-0.87) than among Whites. The risk of CP was higher among foreign-born Filipinos compared to U.S.-born Filipinos (PR = 1.52, CI = 0.58-4.33), although the confidence interval around this estimate included unity. These prevalence variations may reflect differences in both environmental and genetic factors affecting clefting risk.


Assuntos
Fissura Palatina/etnologia , Fissura Palatina/epidemiologia , California/epidemiologia , Fenda Labial/epidemiologia , Fenda Labial/etnologia , Feminino , Humanos , Masculino , Prevalência
12.
Cleft Palate Craniofac J ; 35(4): 366-70, 1998 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9684776

RESUMO

OBJECTIVE: We previously demonstrated a strong association between periconceptional maternal cigarette smoking, infant transforming growth factor-alpha (TGFa) genotype, and risk of orofacial clefts. Because serum folate may be decreased by cigarette smoking and because maternal periconceptional use of multivitamins containing folic acid has been associated with a reduced risk of clefting, we explored whether a potential relation existed between infant TGFa genotype, maternal multivitamin use, and risk of orofacial cleft phenotypes. DESIGN: Data were derived from a population-based case-control study of fetuses and live-born infants among a cohort of 1987 to 1989 California births (n = 548,844). Information concerning periconceptional multivitamin use was obtained via telephone interviews with mothers of 731 (84.7% of eligible) orofacial cleft case infants, and of 734 (78.2%) nonmalformed control infants. DNA was obtained from newborn screening bloodspots and genotyped for the Taql polymorphism of TGFa. Among infants of interviewed mothers, genotypes were available for 571 (78.1%) case infants and 640 (87.2%) control infants. SETTING: The study encompassed all hospitals in selected California counties. MAIN OUTCOME MEASURE: The main outcome measures were the risks of specific cleft phenotypes among infants with uncommon TGFa genotypes and whose mothers did not use multivitamins periconceptionally. RESULTS: Compared with infants homozygous for the common TGFa genotype and whose mothers used multivitamins, increased clefting risks were observed for infants with the A2 genotype (homozygous or heterozygous) and whose mothers did not use multivitamins. Risk estimates were 3.0 (1.4-6.6 [95% confidence interval]) for isolated cleft lip with or without cleft palate (CLP), 2.4 (0.69-11.6) for multiple CLP, 2.6 (0.97-7.7) for isolated cleft palate (CP), 4.2 (1.3-16.2) for multiple CP, and 8.1 (2.6-27.7) for "known-syndrome" clefts. Clefting risks for infants with the A2 genotype and whose mothers used multivitamins were substantially smaller, as were the risks for infants with the A1 genotype whose mothers did not use multivitamins. CONCLUSION: These data provide preliminary evidence for a gene-nutrient interaction in risk of clefting.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Cuidado Pré-Concepcional , Fator de Crescimento Transformador alfa/genética , Vitaminas/uso terapêutico , Adulto , Estudos de Casos e Controles , Estudos de Coortes , Intervalos de Confiança , DNA/genética , Feminino , Ácido Fólico/administração & dosagem , Ácido Fólico/sangue , Ácido Fólico/uso terapêutico , Genótipo , Heterozigoto , Homozigoto , Humanos , Recém-Nascido , Entrevistas como Assunto , Masculino , Razão de Chances , Fenótipo , Polimorfismo Genético/genética , Vigilância da População , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Fatores de Risco , Fumar/efeitos adversos , Fumar/sangue , Vitaminas/administração & dosagem
13.
Am J Epidemiol ; 148(1): 30-7, 1998 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-9663401

RESUMO

Maternal periconceptional use of vitamin supplements containing folic acid substantially reduces the risk of neural tube defects (NTDs) in the offspring. The mechanism underlying this reduction in risk is unknown. Several recent studies have reported an association between homozygosity for a variant form (the C677T genotype) of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and risk for NTDs in individuals. It has been hypothesized that maternal folic acid supplementation prevents NTDs by partially correcting reduced MTHFR activity associated with the variant form of the enzyme. Using data from two California case-control interview studies (1987-1991 birth cohorts), the authors investigated whether an interaction for spina bifida risk existed between infant MTHFR C677T genotype and maternal use of supplements containing folic acid. The authors genotyped the allelic variants of MTHFR in 214 liveborn case infants with spina bifida and 503 control infants for whom information on maternal periconceptional vitamin use was available. The percentage of all case infants with the C677T MTHFR mutation, for both homozygous (TT) and heterozygous (TC) genotypes, was slightly higher than that of controls. The C677T genotype was substantially more frequent among both case and control Hispanic infants than among non-Hispanic infants. Among all infants whose mothers did not periconceptionally use vitamins containing folic acid, the risk of spina bifida, as measured by the odds ratio, was 1.6 (95% confidence interval (CI) 0.8-3.1) for all infants with the TT genotype and 2.0 (95% CI 0.5-7.4) for non-Hispanic white infants with the TT genotype, as compared with infants with the CC genotype. This result indicates a modestly increased risk associated with the C677T genotype. A lower risk estimate (odds ratio=1.2, 95% CI 0.4-4.0) was observed among infants whose mothers periconceptionally used vitamin supplements containing folic acid. This population-based California study found a modestly increased risk of spina bifida among infants who were homozygous for the C677T genotype, but only minimal evidence of an interaction between the C677T genotype and maternal folic acid intake in the occurrence of spina bifida. If this mutant MTHFR genotype plays a role in the association between maternal vitamin use and NTD risk, it may be a small role, or it may be conditional on maternal genotype.


Assuntos
Suplementos Nutricionais , Ácido Fólico/administração & dosagem , Metilenotetra-Hidrofolato Desidrogenase (NADP)/genética , Disrafismo Espinal/epidemiologia , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Recém-Nascido , Razão de Chances , Mutação Puntual , Gravidez , Risco , Vitaminas/administração & dosagem
14.
Am J Med Genet ; 76(4): 310-7, 1998 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-9545095

RESUMO

Defects of neural tube closure are among the most common of all human malformations. Epidemiological and genetic studies indicate that most of these defects are multifactorial in origin with genetic and environmental causes. Although periconceptional supplementation of the maternal diet with folic acid has been shown to reduce the recurrence and occurrence of neural tube defects (NTDs) by up to 70%, the underlying mechanism remains unknown. Folic acid enters cells of certain tissues via a receptor-mediated process known as potocytosis. The folate receptor alpha (FR-alpha) gene codes for the protein responsible for binding folate, which is the first, and only, folate-dependent step in folate transport. The FR-alpha exons, which code for mature protein and the intron-exon boundaries, were examined for mutations in three separate studies. Initial screening was performed by single-stranded conformational polymorphism (SSCP) analysis in a subset of 1,688 samples obtained from a population-based case-control study of NTDs in California. In the second study, the DNA sequence of exons 5 and 6 was determined in a group of 50 NTD affected individuals. The final experiment involved using dideoxy fingerprinting (ddF) to screen a population-based case-control sample of 219 individuals who were stratified into four sub-groups on the basis of folate intake and pregnancy outcome. No polymorphism was detected in any of the four exons examined. It is unlikely that the beneficial effects of maternal folate supplementation in preventing NTDs acts through a mechanism involving pharmacological correction of a variant form of folate receptor alpha.


Assuntos
Proteínas de Transporte/genética , Mutação , Receptores de Superfície Celular/genética , Disrafismo Espinal/genética , Estudos de Casos e Controles , Impressões Digitais de DNA , Suplementos Nutricionais , Éxons/genética , Feminino , Receptores de Folato com Âncoras de GPI , Ácido Fólico/administração & dosagem , Variação Genética , Humanos , Recém-Nascido , Masculino , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita Simples , Gravidez , Resultado da Gravidez , Análise de Sequência de DNA , Disrafismo Espinal/epidemiologia , Tetra-Hidrofolatos/metabolismo
15.
Am J Public Health ; 87(9): 1467-71, 1997 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-9314798

RESUMO

OBJECTIVES: This study investigated a previously reported 50% or more increased risk for neural tube defect-affected pregnancies among Latina women compared with White women. METHODS: Data were derived from a population-based case-control study of fetuses and live-born infants with neural tube defects in a 1989-through-1991 California birth cohort. Interviews were conducted with mothers of 538 (88% of eligible) infants/fetuses with neural tube defects and mothers of 539 (88%) nonmalformed control infants. RESULTS: The risk for a neural tube defect-affected pregnancy was approximately twice as high among women of Mexican descent than among White women (odds ratio = 1.9, 95% confidence interval [CI] = 1.5, 2.8). The odds ratio for Mexico-born Mexican women compared with White women was 2.4 (95% CI = 1.7, 3.2), whereas the risk for US-born women of Mexican and other racial/ethnic descent was not substantially higher than that for Whites. The higher risk among Mexico-born Mexican women was not attributable to differences in numerous studied parental characteristics and exposures. CONCLUSIONS: Given that nearly 20% of all California births are to Mexico-born Mexican women, the increased risks observed are relevant to the population burden of neural tube defects.


Assuntos
Americanos Mexicanos , Defeitos do Tubo Neural/etnologia , População Branca , Adulto , California/epidemiologia , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Masculino , Idade Materna , Gravidez , Fatores de Risco , Apoio Social , Fatores Socioeconômicos
16.
Am J Med Genet ; 71(1): 93-6, 1997 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-9215776

RESUMO

It is well established that maternal multivitamin supplementation reduces the risk of neural tube defects and evidence suggests that it may be associated with other reproductive outcomes. The present study was prompted by a report from a randomized trial in Hungary which showed a 40% increase in multiple births among periconceptional vitamin users. Retrospectively collected data on multivitamin supplementation were obtained on multiple and singleton births from three separate studies: Atlanta Birth Defects Case-Control Study (ABDCCS) malformed and nonmalformed infants born 1968-1980, California Birth Defects Monitoring Program (CBDMP) malformed and nonmalformed infants born 1987-1989, and Boston University Slone Epidemiology Unit Birth Defects Study (SEU-BDS) malformed infants born 1987-1994. Supplementation was divided into three mutually exclusive categories based on timing: "periconceptional" use--before through at least the third month after conception; "early" use--beginning in the first month and continuing through at least the third month after conception; and "later" use--beginning in the second or third month after conception. For periconceptional use, four of five datasets showed a 30 to 60% greater prevalence of supplementation among mothers of multiple births. In contrast, this pattern was not evident for "early" and "later" use. Overall, the study findings are tentative, due to a lack of consistency across all five datasets and they should not alter recent recommendations related to folate supplementation for the prevention of neural tube defects.


Assuntos
Gravidez Múltipla/efeitos dos fármacos , Vitaminas/farmacologia , Anormalidades Congênitas/epidemiologia , Bases de Dados Factuais , Feminino , Humanos , Masculino , Gravidez , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Estados Unidos/epidemiologia , Vitaminas/administração & dosagem
18.
Teratology ; 53(6): 374-7, 1996 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-8910983

RESUMO

In this population-based case-control study, we explored the association of selected parental and infant characteristics from the birth certificates of children with conotruncal heart defects. We compared 252 cases to a random sample of 5,000 nonmalformed infants from a cohort of 341,839 California live births for 1987-1988. The prevalence of conotruncal defects was 0.732 per 1,000 total births. A decreased risk (OR = 0.55, 95% CI0.33-0.89) for delivering infants with conotruncal defects was found among mothers born in Mexico compared to mothers born in California. An increased risk was observed for Native American mothers compared to non-Hispanic whites (OR = 2.6, 95% CI 1.1-6.0). We also compared risks associated with the individual diagnoses that comprise the group of conotruncal defects. Only minor differences in risk estimates between the anatomic diagnoses were observed, lending support to the methodologic approach of using conotruncal defects as a single category of heart defects in etiologic investigations.


Assuntos
Cardiopatias Congênitas/epidemiologia , California/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Idade Materna , Idade Paterna , Prevalência , Grupos Raciais , Fatores de Risco
19.
Teratology ; 53(4): 261-7, 1996 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-8864168

RESUMO

Risks for selected congenital anomalies from parental smoking were investigated in a case-control study in California. Mothers of 207 infants with conotruncal heart defects, 264 infants with neural tube defects, 178 infants with limb deficiencies, and 481 live born control infants delivered in 1987-1988 were interviewed by telephone. Modestly elevated risks were observed for conotruncal heart defects and limb deficiencies, associated primarily with both parents smoking. An odds ratio of 1.9 (95 percent confidence interval 1.2-3.1) was observed for conotruncal heart defects and an odds ratio of 1.7 (95% confidence interval 0.96-2.9) for limb deficiencies when both parents smoked compared to neither parent smoking. We did not observe increased risks associated with maternal smoking in the absence of paternal smoking, although an increased risk associated with paternal smoking in the absence of maternal smoking was observed for limb deficiencies in offspring. For conotruncal defects, the risks associated with parental smoking differed among race/ethnic groups. Parental smoking was not associated with increased risks for neural tube defects. Observed risks did not change substantially when adjusted for maternal vitamin use, alcohol use, and gravidity. Some heterogeneity in risk was observed for phenotypic case subgroups, but data were too sparse to draw firm inferences.


Assuntos
Cardiopatias Congênitas/etiologia , Deformidades Congênitas dos Membros , Defeitos do Tubo Neural/etiologia , Exposição Paterna , Fumar/efeitos adversos , Estudos de Casos e Controles , Humanos , Recém-Nascido , Masculino
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