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1.
Rev Bras Ginecol Obstet ; 43(4): 317-322, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33979892

RESUMO

Fetal thyroid complications in pregnancy are uncommon, and are commonly related to the passage of substances through the placenta. The excessive iodine intake during the pregnancy is a well-known mechanism of fetal thyroid enlargement or goiter, and invasive procedures have been proposed for the treatment of fetal thyroid pathologies. In the present report, we demonstrate two cases from different centers of prenatal diagnosis of fetal thyroid enlargement and/or goiter in three fetuses (one pair of twins, wherein both fetuses were affected, and one singleton pregnancy). The anamnesis revealed the ingestion of iodine by the patients, prescribed from inadequate vitamin supplementation. In both cases, the cessation of iodine supplement intake resulted in a marked reduction of the volume of the fetal thyroid glands, demonstrating that conservative treatment may be an option in those cases. Also, clinicians must be aware that patients may be exposed to harmful dosages or substances during pregnancy.


As complicações fetais da tireoide na gravidez são incomuns e são comumente relacionadas à passagem de substâncias pela placenta. A ingestão excessiva de iodo durante a gravidez é um mecanismo bem conhecido de aumento da tireoide ou bócio fetal, e procedimentos invasivos foram propostos para o tratamento de patologias da tireoide fetal. No presente relato de caso, demonstramos dois casos de diferentes centros de diagnóstico pré-natal de aumento da tireoide fetal e/ou bócio em três fetos (um par de gêmeos, em que ambos os fetos foram afetados, e uma gravidez única). A anamnese revelou a ingestão de iodo pelos pacientes prescrita por suplementação inadequada de vitaminas. Nos dois casos, a interrupção da ingestão de suplemento de iodo resultou em uma redução acentuada do volume das glândulas tireoides fetais, demonstrando que o tratamento conservador pode ser uma opção nestes casos. Além disso, os médicos devem estar cientes de que as pacientes podem ser expostas a doses ou substâncias nocivas durante a gravidez.


Assuntos
Suplementos Nutricionais/efeitos adversos , Doenças Fetais/etiologia , Bócio/etiologia , Iodo/efeitos adversos , Cuidado Pré-Natal , Adulto , Doenças em Gêmeos/diagnóstico por imagem , Doenças em Gêmeos/etiologia , Feminino , Doenças Fetais/diagnóstico por imagem , Bócio/diagnóstico por imagem , Humanos , Imageamento Tridimensional , Iodo/administração & dosagem , Imageamento por Ressonância Magnética , Gravidez , Cuidado Pré-Natal/métodos , Autocuidado/efeitos adversos , Ultrassonografia Pré-Natal
2.
Rev. bras. ginecol. obstet ; 43(4): 317-322, Apr. 2021. graf
Artigo em Inglês | LILACS | ID: biblio-1280043

RESUMO

Abstract Fetal thyroid complications in pregnancy are uncommon, and are commonly related to the passage of substances through the placenta. The excessive iodine intake during the pregnancy is a well-known mechanism of fetal thyroid enlargement or goiter, and invasive procedures have been proposed for the treatment of fetal thyroid pathologies. In the present report, we demonstrate two cases from different centers of prenatal diagnosis of fetal thyroid enlargement and/or goiter in three fetuses (one pair of twins, wherein both fetuses were affected, and one singleton pregnancy). The anamnesis revealed the ingestion of iodine by the patients, prescribed from inadequate vitamin supplementation. In both cases, the cessation of iodine supplement intake resulted in a marked reduction of the volume of the fetal thyroid glands, demonstrating that conservative treatmentmay be an option in those cases. Also, clinicians must be aware that patients may be exposed to harmful dosages or substances during pregnancy.


Resumo As complicações fetais da tireoide na gravidez são incomuns e são comumente relacionadas à passagem de substâncias pela placenta. A ingestão excessiva de iodo durante a gravidez é um mecanismo bem conhecido de aumento da tireoide ou bócio fetal, e procedimentos invasivos foram propostos para o tratamento de patologias da tireoide fetal. No presente relato de caso, demonstramos dois casos de diferentes centros de diagnóstico pré-natal de aumento da tireoide fetal e/ou bócio em três fetos (um par de gêmeos, em que ambos os fetos foram afetados, e uma gravidez única). A anamnese revelou a ingestão de iodo pelos pacientes prescrita por suplementação inadequada de vitaminas. Nos dois casos, a interrupção da ingestão de suplemento de iodo resultou em uma redução acentuada do volume das glândulas tireoides fetais, demonstrando que o tratamento conservador pode ser uma opção nestes casos. Além disso, os médicos devem estar cientes de que as pacientes podem ser expostas a doses ou substâncias nocivas durante a gravidez.


Assuntos
Humanos , Feminino , Gravidez , Adulto , Cuidado Pré-Natal/métodos , Suplementos Nutricionais/efeitos adversos , Bócio/etiologia , Iodo/efeitos adversos , Autocuidado/efeitos adversos , Imageamento por Ressonância Magnética , Ultrassonografia Pré-Natal , Imageamento Tridimensional , Doenças em Gêmeos/etiologia , Doenças em Gêmeos/diagnóstico por imagem , Doenças Fetais/etiologia , Doenças Fetais/diagnóstico por imagem , Bócio/diagnóstico por imagem , Iodo/administração & dosagem
3.
J Obstet Gynaecol ; 41(8): 1199-1204, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33682597

RESUMO

Monochorionic (MC) pregnancy is a high risk pregnancy with well-defined specific complications, such as twin-to-twin transfusion syndrome (TTTS) and twin anaemia-polycythaemia sequence (TAPS). Laser photocoagulation (LPC) is an effective treatment for both complications. In the current retrospective study, we determined the incidence of MC pregnancy complications in a tertiary care centre during a 10-year period. Single foetal death (FD) beyond 14 weeks' gestation was significantly higher when complicated by either TTTS, TAPS or selective foetal growth restriction (21.4%, 16.7% and 9.1% versus 1.6%, p<.001, p=.02 and p=.04, respectively). We also demonstrated that twins' weight discordance >20% is an independent risk factor for single or double FD after LPC. Consequently, prior to LPC, patients should be counselled that early diagnosis of TTTS, advanced Quintero stages and weight discordances >20% are potential risk factors for FD. Further studies are needed to identify additional risk factors for TTTS and TAPS outcome after LPC.Impact StatementWhat is already known on this subject? Monochorionic (MC) pregnancy is a high risk pregnancy with well-defined specific complications, such as twin-twin transfusion syndrome (TTTS) and twin anaemia-polycythaemia sequence (TAPS). Laser photocoagulation (LPC) is an effective treatment for both complications.What the results of this study add? The results of the current study determined the incidence of MC pregnancy complications in a tertiary care centre in Brussels, and identified that twins' weight discordance >20% is an independent risk factor for single or double foetal death after LPC.What the implications are of these findings for clinical practice and/or further research? Prior to laser coagulation, patients should be counselled that early diagnosis of TTTS, Quintero stages 3 or 4 and weight discordances >20% are potential risk factors for foetal demise. Further studies are needed to identify additional risk factors for TTTS and TAPS outcome after LPC.


Assuntos
Doenças em Gêmeos/cirurgia , Terapia com Luz de Baixa Intensidade/métodos , Resultado da Gravidez/epidemiologia , Gravidez de Gêmeos/estatística & dados numéricos , Gêmeos Monozigóticos/estatística & dados numéricos , Adulto , Anemia Neonatal/embriologia , Anemia Neonatal/cirurgia , Doenças em Gêmeos/embriologia , Feminino , Morte Fetal , Retardo do Crescimento Fetal/cirurgia , Transfusão Feto-Fetal/embriologia , Transfusão Feto-Fetal/cirurgia , Idade Gestacional , Hospitais de Ensino , Humanos , Policitemia/embriologia , Policitemia/cirurgia , Gravidez , Estudos Retrospectivos , Centros de Atenção Terciária , Resultado do Tratamento
4.
Behav Genet ; 51(4): 394-404, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33604755

RESUMO

Anxiety not only concerns mental wellbeing but also negatively impacts other areas of health. Yet, there is limited research on (a) the genetic and environmental aetiology of such relationships; (b) sex differences in aetiology and (c) non-European samples. In this study, we investigated the genetic and environmental variation and covariation of anxiety symptoms and eight components of health-related quality of life (QoL), as measured by the short form health survey (SF-36), using genetic twin model fitting analysis. Data was drawn from the Colombo Twin and Singleton Study (COTASS), a population-based sample in Sri Lanka with data on twins (N = 2921) and singletons (N = 1027). Individual differences in anxiety and QoL traits showed more shared environmental (family) effects in women. Men did not show familial effects. Anxiety negatively correlated with all eight components of QoL, mostly driven by overlapping unique (individual-specific) environmental effects in both sexes and overlapping shared environmental effects in women. This is the first study in a South Asian population supporting the association between poor mental health and reduced QoL, highlighting the value of integrated healthcare services. Associations were largely environmental, on both individual and family levels, which could be informative for therapy and intervention.


Assuntos
Qualidade de Vida , Gêmeos , Ansiedade/genética , Doenças em Gêmeos , Feminino , Humanos , Masculino , Sri Lanka
5.
Ann Ist Super Sanita ; 56(3): 351-358, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32959801

RESUMO

INTRODUCTION AND OBJECTIVES: In Italy, four minors have died in the last year as a result of male circumcision (MC) procedures performed for cultural and religious reasons by unqualified persons in unhygienic conditions. RESULTS AND DISCUSSION: After illustrating the historical and ethical outlines of the moral admissibility of MC within a comparative perspective, we examine the features of the Italian healthcare system with particular regard both to the heterogeneity of services available in the various Regions and to the risks engendered by excluding MC from the public health setting. CONCLUSION: In order to adequately safeguard public health, particularly that of minors, there is a pressing need for thorough discussion of whether the National Health Service should perform MC on minors free of charge or, at least, for a reduced fee. The implementation of targeted campaigns may raise awareness of the importance of proper safety measures in MC.


Assuntos
Comportamento Ritualístico , Circuncisão Masculina/efeitos adversos , Responsabilidade Social , Pré-Escolar , Circuncisão Masculina/ética , Circuncisão Masculina/história , Circuncisão Masculina/legislação & jurisprudência , Doenças em Gêmeos , Medicina Baseada em Evidências , Educação em Saúde , História do Século XIX , História do Século XXI , História Antiga , História Medieval , Humanos , Lactente , Recém-Nascido , Itália/epidemiologia , Masculino , Motivação , Consentimento dos Pais , Doenças do Pênis/prevenção & controle , Saúde Pública , Religião e Medicina , Infecção dos Ferimentos/etiologia , Infecção dos Ferimentos/mortalidade
6.
Mol Genet Metab ; 129(3): 236-242, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31917109

RESUMO

Disorders of the white matter are genetically very heterogeneous including several genes involved in mitochondrial bioenergetics. Diagnosis of the underlying cause is aided by pattern recognition on neuroimaging and by next-generation sequencing. Recently, genetic changes in the complex I assembly factor NUBPL have been characterized by a consistent recognizable pattern of leukoencephalopathy affecting deep white matter including the corpus callosum and cerebellum. Here, we report twin boys with biallelic variants in NUBPL, an unreported c.351 G > A; p.(Met117Ile) and a previously reported pathological variant c. 693 + 1 G > A. Brain magnetic resonance imaging showed abnormal T2 hyperintense signal involving the periventricular white matter, external capsule, corpus callosum, and, prominently, the bilateral thalami. The neuroimaging pattern evolved over 18 months with marked diffuse white matter signal abnormality, volume loss, and new areas of signal abnormality in the cerebellar folia and vermis. Magnetic resonance spectroscopy showed elevated lactate. Functional studies in cultured fibroblasts confirmed pathogenicity of the genetic variants. Complex I activity of the respiratory chain was deficient spectrophotometrically and on blue native gel with in-gel activity staining. There was absent assembly and loss of proteins of the matrix arm of complex I when traced with an antibody to NDUFS2, and incomplete assembly of the membrane arm when traced with an NDUFB6 antibody. There was decreased NUBPL protein on Western blot in patient fibroblasts compared to controls. Compromised NUBPL activity impairs assembly of the matrix arm of complex I and produces a severe, rapidly-progressive leukoencephalopathy with thalamic involvement on MRI, further expanding the neuroimaging phenotype.


Assuntos
Doenças em Gêmeos/genética , Complexo I de Transporte de Elétrons/metabolismo , Leucoencefalopatias/genética , Mitocôndrias/metabolismo , Proteínas Mitocondriais/genética , Tálamo/diagnóstico por imagem , Linhagem Celular , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Doenças em Gêmeos/diagnóstico por imagem , Doenças em Gêmeos/metabolismo , Doenças em Gêmeos/fisiopatologia , Complexo I de Transporte de Elétrons/deficiência , Complexo I de Transporte de Elétrons/genética , Cápsula Externa/diagnóstico por imagem , Cápsula Externa/patologia , Olho/fisiopatologia , Fibroblastos/metabolismo , Humanos , Lactente , Ácido Láctico/metabolismo , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/metabolismo , Leucoencefalopatias/fisiopatologia , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino , Mitocôndrias/genética , Proteínas Mitocondriais/metabolismo , Mutação , NADH Desidrogenase/metabolismo , Gêmeos Monozigóticos/genética , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Sequenciamento do Exoma
7.
Sci Rep ; 9(1): 12606, 2019 08 30.
Artigo em Inglês | MEDLINE | ID: mdl-31471550

RESUMO

The association between active musical engagement (as leisure activity or professionally) and mental health is still unclear, with earlier studies reporting contrasting findings. Here we tested whether musical engagement predicts (1) a diagnosis of depression, anxiety, schizophrenia, bipolar or stress-related disorders based on nationwide patient registers or (2) self-reported depressive, burnout and schizotypal symptoms in 10,776 Swedish twins. Information was available on the years individuals played an instrument, including their start and stop date if applicable, and their level of achievement. Survival analyses were used to test the effect of musical engagement on the incidence of psychiatric disorders. Regression analyses were applied for self-reported psychiatric symptoms. Additionally, we conducted co-twin control analyses to further explore the association while controlling for genetic and shared environmental confounding. Results showed that overall individuals playing a musical instrument (independent of their musical achievement) may have a somewhat increased risk for mental health problems, though only significant for self-reported mental health measures. When controlling for familial liability associations diminished, suggesting that the association is likely not due to a causal negative effect of playing music, but rather to shared underlying environmental or genetic factors influencing both musicianship and mental health problems.


Assuntos
Transtornos Mentais/terapia , Saúde Mental , Musicoterapia/métodos , Música/psicologia , Adulto , Transtornos de Ansiedade/psicologia , Transtornos de Ansiedade/terapia , Transtorno Depressivo/psicologia , Transtorno Depressivo/terapia , Doenças em Gêmeos , Feminino , Humanos , Masculino , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Avaliação de Resultados em Cuidados de Saúde , Fatores de Risco , Esquizofrenia/patologia , Esquizofrenia/terapia , Psicologia do Esquizofrênico , Análise de Sobrevida , Suécia/epidemiologia
8.
Transl Psychiatry ; 9(1): 192, 2019 08 20.
Artigo em Inglês | MEDLINE | ID: mdl-31431615

RESUMO

Our recent study has demonstrated that increased connectivity in the cerebello-thalamo-cortical (CTC) circuitry is a state-independent neural trait that can potentially predict the onset of psychosis. One possible cause of such "trait" abnormality would be genetic predisposition. Here, we tested this hypothesis using multi-paradigm functional magnetic resonance imaging (fMRI) data from two independent twin cohorts. In a sample of 85 monozygotic (MZ) and 52 dizygotic (DZ) healthy twin pairs acquired from the Human Connectome Project, we showed that the connectivity pattern of the identified CTC circuitry was more similar in the MZ twins (r = 0.54) compared with that in the DZ twins (r = 0.22). The structural equation modeling analysis revealed a heritability estimate of 0.52 for the CTC connectivity, suggesting a moderately strong genetic effect. Moreover, using an independent schizophrenia cotwin sample (10 discordant MZ cotwins, 30 discordant DZ cotwins, and 32 control cotwins), we observed a significant linear relationship between genetic distance to schizophrenia and the connectivity strength in the CTC circuitry (i.e., schizophrenia MZ cotwins > schizophrenia DZ cotwins > control twins, P = 0.045). The present data provide converging evidence that increased connectivity in the CTC circuitry is likely to be a heritable trait that is associated with the genetic risk of schizophrenia.


Assuntos
Encéfalo/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Córtex Cerebral/diagnóstico por imagem , Doenças em Gêmeos/diagnóstico por imagem , Rede Nervosa/diagnóstico por imagem , Esquizofrenia/diagnóstico por imagem , Tálamo/diagnóstico por imagem , Adulto , Conectoma , Doenças em Gêmeos/genética , Feminino , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Esquizofrenia/genética
9.
Am J Obstet Gynecol ; 221(2): B2-B12, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31002766

RESUMO

We sought to review the state of the science for research on multiple gestations. A literature search was performed with the use of PubMed for studies to quantify the representation of multiple gestations for a sample period (2012-2016) that were limited to phase III and IV randomized controlled trials, that were written in English, and that addressed at least 1 of 4 major pregnancy complications: fetal growth restriction or small-for-gestational-age fetus, gestational diabetes mellitus, preeclampsia, and preterm delivery. Of the 226 studies that are included in the analysis, multiple pregnancies were most represented in studies of preterm delivery: 17% of trials recruited both singleton and multiple pregnancies; another 18% of trials recruited only multiple pregnancies. For trials that studied preeclampsia, fetal growth restriction, and gestational diabetes mellitus, 17%, 8%, and 2%, respectively, recruited both singleton and multiple gestations. None of the trials on these 3 topics were limited to women with a multiple pregnancy. Women with a multiple pregnancy are at risk for complications similar to those of women with singleton pregnancies, but their risk is usually higher. Also, the pathophysiologic condition for some complications differs in multiple gestations from those that occur in singleton gestations. Conditions that are unique to multiple pregnancies include excess placenta, placental crowding or inability of the uteroplacental unit to support the normal growth of multiple fetuses, or suboptimal placental implantation sites with an increased risk of abnormal placental location. Other adverse outcomes in multiple gestations are also influenced by twin-specific risk factors, most notably chorionicity. Although twins have been well represented in many studies of preterm birth, these studies have failed to identify adequate predictive tests (short cervical length established over 2 decades ago remains the single best predictor), to establish effective interventions, and to differentiate the underlying pathophysiologic condition of twin preterm birth. Questions about fetal growth also remain. Twin growth deviates from that of singleton gestations starting at approximately 32 weeks of gestation; however, research with long-term follow-up is needed to better distinguish pathologic and physiologic growth deviations, which include growth discordance among pairs (or more). There are virtually no clinical trials that are specific to twins for gestational diabetes mellitus or preeclampsia, and subgroups for multiple pregnancies in existing trials are not large enough to allow definite conclusions. Another important area is the determination of appropriate maternal nutrition or micronutrient supplementation to optimize pregnancy and child health. There are also unique aspects to consider for research design in multiple gestations, such as designation and tracking of the correct fetus prenatally and through delivery. The correct statistical methods must be used to account for correlated data because multiple fetuses share the same mother and intrauterine environment. In summary, multiple gestations often are excluded from research studies, despite a disproportionate contribution to national rates of perinatal morbidity, mortality, and health-care costs. It is important to consider the enrollment of multifetal pregnancies in studies that target mainly women with singleton gestations, even when sample size is inadequate, so that insights that are specific to multiple gestations can be obtained when results of smaller studies are pooled together. The care of pregnant women with multiple gestations presents unique challenges; unfortunately, evidence-based clinical management that includes the diagnosis and treatment of common obstetrics problems are not well-defined for this population.


Assuntos
Gravidez Múltipla , Pesquisa Biomédica , Doenças em Gêmeos , Feminino , Desenvolvimento Fetal , Predisposição Genética para Doença , Humanos , Gravidez , Complicações na Gravidez , Nascimento Prematuro/prevenção & controle , Ensaios Clínicos Controlados Aleatórios como Assunto , Projetos de Pesquisa , Sociedades Médicas
10.
Eur Child Adolesc Psychiatry ; 28(9): 1241-1251, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30758734

RESUMO

To get additional insight into the phenotype of attentional problems, we examined to what extent genetic and environmental factors explain covariation between lack of dispositional mindfulness and attention-deficit/hyperactivity disorder (ADHD) traits in youth, and explored the incremental validity of these constructs in predicting life satisfaction. We used data from a UK population-representative sample of adolescent twins (N = 1092 pairs) on lack of dispositional mindfulness [Mindful Attention Awareness Scale (MAAS)], ADHD traits [Conners' Parent Rating Scale-Revised (CPRS-R): inattentive (INATT) and hyperactivity/impulsivity (HYP/IMP) symptom dimensions] and life satisfaction (Students' Life Satisfaction Scale). Twin model fitting analyses were conducted. Phenotypic correlations (rp) between MAAS and CPRS-R (INATT: rp = 0.18, HYP/IMP: rp = 0.13) were small, but significant and largely explained by shared genes for INATT (% rp INATT-MAAS due to genes: 93%, genetic correlation rA = 0.37) and HYP/IMP (% rp HYP/IMP-MAAS due to genes: 81%; genetic correlation rA = 0.21) with no significant contribution of environmental factors. MAAS, INATT and HYP/IMP significantly and independently predicted life satisfaction. Lack of dispositional mindfulness, assessed as self-reported perceived lapses of attention (MAAS), taps into an aspect of attentional functioning that is phenotypically and genetically distinct from parent-rated ADHD traits. The clinically relevant incremental validity of both scales implicates that MAAS could be used to explore the underlying mechanisms of an aspect of attentional functioning that uniquely affects life satisfaction and is not captured by DSM-based ADHD scales. Further future research could identify if lack of dispositional mindfulness and high ADHD traits can be targeted by different therapeutic approaches resulting in different effects on life satisfaction.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Doenças em Gêmeos/genética , Atenção Plena/métodos , Adolescente , Atenção , Exposição Ambiental , Feminino , Humanos , Masculino
11.
Biochim Biophys Acta Mol Basis Dis ; 1864(2): 601-606, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29197660

RESUMO

BACKGROUND: Fatigue is a sensation of unbearable tiredness that frequently accompanies chronic widespread musculoskeletal pain (CWP) and inflammatory joint disease. Its mechanisms are poorly understood and there is a lack of effective biomarkers for diagnosis and onset prediction. We studied the circulating metabolome in a population sample characterised for CWP to identify biomarkers showing specificity for fatigue. MATERIAL AND METHODS: Untargeted metabolomic profiling was conducted on fasting plasma and serum samples of 1106 females with and without CWP from the TwinsUK cohort. Linear mixed-effects models accounting for covariates were used to determine relationships between fatigue and metabolites. Receiver operating curve (ROC)-analysis was used to determine predictive value of metabolites for fatigue. RESULTS: While no association between fatigue and metabolites was identified in twins without CWP (n=711), in participants with CWP (n=395), levels of eicosapentaenoate (EPA) ω-3 fatty acid were significantly reduced in those with fatigue (ß=-0.452±0.116; p=1.2×10-4). A significant association between fatigue and two other metabolites also emerged when BMI was excluded from the model: 3-carboxy-4-methyl-5-propyl-2-furanpropanoate (CMPF), and C-glycosyltryptophan (p=1.5×10-4 and p=3.1×10-4, respectively). ROC analysis has identified a combination of 15 circulating metabolites with good predictive potential for fatigue in CWP (AUC=75%; 95% CI 69-80%). CONCLUSION: The results of this agnostic metabolomics screening show that fatigue is metabolically distinct from CWP, and is associated with a decrease in circulating levels of EPA. Our panel of circulating metabolites provides the starting point for a diagnostic test for fatigue in CWP.


Assuntos
Dor Crônica/sangue , Fadiga/sangue , Metaboloma , Adulto , Idoso , Área Sob a Curva , Biomarcadores , Proteína C-Reativa/química , Dor Crônica/diagnóstico , Dor Crônica/terapia , Estudos de Coortes , Doenças em Gêmeos , Ácido Eicosapentaenoico/sangue , Fadiga/diagnóstico , Fadiga/terapia , Ácidos Graxos Ômega-3/sangue , Feminino , Furanos/sangue , Furanos/química , Glicosilação , Humanos , Inflamação , Modelos Lineares , Pessoa de Meia-Idade , Dor Musculoesquelética/patologia , Propionatos/sangue , Propionatos/química , Curva ROC , Fatores de Risco , Triptofano/química , Reino Unido
12.
Artigo em Inglês | MEDLINE | ID: mdl-28941767

RESUMO

Multiple lines of research have reported thalamic abnormalities in individuals with autism spectrum disorder (ASD) that are associated with social communication impairments (SCI), restricted and repetitive behaviors (RRB), or sensory processing abnormalities (SPA). Thus, the thalamus may represent a common neurobiological structure that is shared across symptom domains in ASD. Same-sex monozygotic (MZ) and dizygotic (DZ) twin pairs with and without ASD underwent cognitive/behavioral evaluation and magnetic resonance imaging to assess the thalamus. Neurometabolites were measured with 1H magnetic resonance spectroscopy (MRS) utilizing a multi-voxel PRESS sequence and were referenced to creatine+phosphocreatine (tCr). N-acetyl aspartate (NAA), a marker of neuronal integrity, was reduced in twins with ASD (n=47) compared to typically-developing (TD) controls (n=33), and this finding was confirmed in a sub-sample of co-twins discordant for ASD (n=11). NAA in the thalamus was correlated to a similar extent with SCI, RRB, and SPA, such that reduced neuronal integrity was associated with greater symptom severity. Glutamate+glutamine (Glx) was also reduced in affected versus unaffected co-twins. Additionally, NAA and Glx appeared to be primarily genetically-mediated, based on comparisons between MZ and DZ twin pairs. Thus, thalamic abnormalities may be influenced by genetic susceptibility for ASD but are likely not domain-specific.


Assuntos
Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/metabolismo , Espectroscopia de Prótons por Ressonância Magnética , Tálamo/diagnóstico por imagem , Tálamo/metabolismo , Adolescente , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Transtorno do Espectro Autista/genética , Criança , Estudos de Coortes , Doenças em Gêmeos , Feminino , Lateralidade Funcional , Humanos , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Índice de Gravidade de Doença , Gêmeos Dizigóticos , Gêmeos Monozigóticos
15.
Ophthalmology ; 123(6): 1237-44, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-27016950

RESUMO

PURPOSE: To determine the heritability of nuclear cataract progression and to explore prospectively the effect of dietary micronutrients on the progression of nuclear cataract. DESIGN: Prospective cohort study. PARTICIPANTS: Cross-sectional nuclear cataract and dietary measurements were available for 2054 white female twins from the TwinsUK cohort. Follow-up cataract measurements were available for 324 of the twins (151 monozygotic and 173 dizygotic twins). METHODS: Nuclear cataract was measured using a quantitative measure of nuclear density obtained from digital Scheimpflug images. Dietary data were available from EPIC food frequency questionnaires. Heritability was modeled using maximum likelihood structural equation twin modeling. Association between nuclear cataract change and micronutrients was investigated using linear and multinomial regression analysis. The mean interval between baseline and follow-up examination was 9.4 years. MAIN OUTCOME MEASURES: Nuclear cataract progression. RESULTS: The best-fitting model estimated that the heritability of nuclear cataract progression was 35% (95% confidence interval [CI], 13-54), and individual environmental factors explained the remaining 65% (95% CI, 46-87) of variance. Dietary vitamin C was protective against both nuclear cataract at baseline and nuclear cataract progression (ß = -0.0002, P = 0.01 and ß = -0.001, P = 0.03, respectively), whereas manganese and intake of micronutrient supplements were protective against nuclear cataract at baseline only (ß = -0.009, P = 0.03 and ß = -0.03, P = 0.01, respectively). CONCLUSIONS: Genetic factors explained 35% of the variation in progression of nuclear cataract over a 10-year period. Environmental factors accounted for the remaining variance, and in particular, dietary vitamin C protected against cataract progression assessed approximately 10 years after baseline.


Assuntos
Catarata/congênito , Dieta , Doenças em Gêmeos/genética , Característica Quantitativa Herdável , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Idoso , Idoso de 80 Anos ou mais , Catarata/diagnóstico , Catarata/genética , Estudos Transversais , Inquéritos sobre Dietas , Progressão da Doença , Comportamento Alimentar , Feminino , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , População Branca/genética
16.
J Urol ; 196(2): 473-7, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26907510

RESUMO

PURPOSE: We explore the influence of co-occurring somatic illnesses on prevalent overactive bladder in women of premenopausal age. MATERIALS AND METHODS: Data for the present study were derived from a nationwide survey on complex diseases among all twins in the Swedish Twin Registry born 1959 to 1985. The present study was limited to female twins participating in the survey (12,850). Generalized estimating equations were used to estimate odds ratios with 95% CIs. Environmental and genetic influences were assessed in co-twin control analysis. RESULTS: Generalized estimating equations analysis showed a significant association between overactive bladder and migraine (OR 1.34, 95% CI 1.15-1.57), fibromyalgia (1.83, 1.54-2.18), chronic fatigue (1.81, 1.49-2.19) and eating disorders (1.56, 1.24-1.96). There was also a significant association with allergic disorders including asthma (1.24, 1.01-1.52) and eczema (1.22, 1.04-1.43). Among reproductive disorders, urinary tract infections (1.60, 1.40-1.84), dysmenorrhea (1.53, 1.33-1.76) and pelvic pain (1.60, 1.31-1.94) showed the strongest association with overactive bladder. Results from co-twin control analysis indicated that the significant associations observed in generalized estimating equations analysis were influenced by environmental and genetic factors without a common pathway model. CONCLUSIONS: Our results suggest a multifactorial and complex pathogenesis of overactive bladder in which associations between various somatic illnesses and overactive bladder may be affected by environmental and genetic factors.


Assuntos
Doenças em Gêmeos/epidemiologia , Transtornos Psicofisiológicos/epidemiologia , Bexiga Urinária Hiperativa/epidemiologia , Adulto , Comorbidade , Doenças em Gêmeos/psicologia , Feminino , Humanos , Sistema de Registros , Suécia/epidemiologia , Bexiga Urinária Hiperativa/psicologia
18.
Int J Clin Exp Pathol ; 8(7): 8506-11, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26339425

RESUMO

Variations in the JAGGED1 gene have been found to cause Alagille syndrome. Nevertheless, no particular hotspots in the gene have been found; any part of the entire coding regions for JAGGED1 may be involved. Twin sisters with jaundice visited our hospital and were diagnosed with Alagille syndrome. The gene variations in their JAGGED1 coding sequences were evaluated by complementary DNA sequencing. The 12-month-old twin sisters have broad foreheads, deep-set eyes, pointed chins, and triangular faces with jaundice. Clinical testing showed the presence of posterior embryotoxon, butterfly vertebrae, and atrial septal defect. Biochemical indexes showed cholestasis and liver damage. Three conserved variations were identified within exons 22 (c.2612C>G), 24 (c.2957T>A), and 26 (c.3417T>C) in the JAGGED1 coding sequence. The predicted consequences for c.2612C>G, c.2957T>A, and c.3417T>C were p.Pro871Arg, p.Leu986*, and p.Tyr1139=, respectively. The T to A change in the JAGGED1 coding sequence at 2957 will generate a stop codon and might lead to deletion of amino acid 233 at the C terminal of the JAGGED1 protein. Our data suggest that gene variations of c.2612C>G, c.2957T>A, and c.3417T>C, especially c.2957T>A, might have contributed to the pathogenesis of Alagille syndrome in these Chinese twin sisters and provided new gene evidences for Alagille syndrome.


Assuntos
Síndrome de Alagille/genética , Povo Asiático/genética , Proteínas de Ligação ao Cálcio/genética , Doenças em Gêmeos/genética , Variação Genética , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteínas de Membrana/genética , Síndrome de Alagille/diagnóstico , Síndrome de Alagille/etnologia , China , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/etnologia , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Proteína Jagged-1 , Fenótipo , Análise de Sequência de DNA , Proteínas Serrate-Jagged
19.
Ann Dermatol Venereol ; 142(6-7): 434-7, 2015.
Artigo em Francês | MEDLINE | ID: mdl-25999263

RESUMO

BACKGROUND: Although the oleander plant is practically ubiquitous throughout the Mediterranean area, very few publications refer to its cutaneous toxicity. PATIENTS AND METHODS: Herein, we report two cases of irritant contact dermatitis caused by oleander. The patients in question were twins who had oleander leaves applied directly to their face for 20minutes. The initial lesions consisted of periorbital erythema, followed by the emergence of papules and macules. Vesicles and crusts appeared over the ensuing 24hours. Treatment included withdrawal of the toxic agent, prescription of oral antihistamines, and the topical application of dermocorticoids to the lesions for two weeks. The outcome on the 9th day was slightly hypochromic and atrophic. Complete restitutio ad integrum of the skin was observed after 30 days. DISCUSSION: In our patients, a joint effect of ultraviolet radiation (phytophotodermatitis) and chlorine from the swimming pool cannot be ruled out. Although the substances present in oleanders (irritant saponins and glycosides) can cause chemical irritant dermatitis, immunological reactions cannot be excluded. The lack of signs of systemic toxicity observed is the result of the factors governing transdermal diffusion of the toxic glycosides found in oleander. CONCLUSION: These two cases provide a timely reminder, both for the general public and for healthcare professionals, of the potential biohazards of oleander, not only because of its systemic toxicity but also because of the risks associated with cutaneous exposure.


Assuntos
Dermatite de Contato/etiologia , Doenças em Gêmeos/etiologia , Dermatoses Faciais/etiologia , Irritantes/toxicidade , Nerium/toxicidade , Adolescente , Vesícula/etiologia , Feminino , Glicosídeos/farmacocinética , Glicosídeos/toxicidade , Halogenação , Humanos , Masculino , Folhas de Planta/toxicidade , Plantas Tóxicas/toxicidade , Saponinas/farmacocinética , Saponinas/toxicidade , Absorção Cutânea , Piscinas , Raios Ultravioleta/efeitos adversos
20.
Depress Anxiety ; 32(4): 254-61, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25639257

RESUMO

BACKGROUND: Mindfulness-based therapies have been shown to be effective in treating depression and reducing cognitive biases. Anxiety sensitivity is one cognitive bias that may play a role in the association between mindfulness and depressive symptoms. It refers to an enhanced sensitivity toward symptoms of anxiety, with a belief that these are harmful. Currently, little is known about the mechanisms underpinning the association between mindfulness, depression, and anxiety sensitivity. The aim of this study was to examine the role of genetic and environmental factors in trait mindfulness, and its genetic and environmental overlap with depressive symptoms and anxiety sensitivity. METHODS: Over 2,100 16-year-old twins from a population-based study rated their mindfulness, depressive symptoms, and anxiety sensitivity. RESULTS: Twin modeling analyses revealed that mindfulness is 32% heritable and 66% due to nonshared environmental factors, with no significant influence of shared environment. Genetic influences explained over half of the moderate phenotypic associations between low mindfulness, depressive symptoms, and anxiety sensitivity. About two-thirds of genetic influences and almost all nonshared environmental influences on mindfulness were independent of depression and anxiety sensitivity. CONCLUSIONS: This is the first study to show that both genes and environment play an important role in the etiology of mindfulness in adolescence. Future research should identify the specific environmental factors that influence trait mindfulness during development to inform targeted treatment and resilience interventions. Shared genetic liability underpinning the co-occurrence of low mindfulness, depression, and anxiety sensitivity suggests that the biological pathways shared between these traits should also be examined.


Assuntos
Ansiedade , Depressão , Doenças em Gêmeos , Meio Ambiente , Interação Gene-Ambiente , Atenção Plena , Adolescente , Ansiedade/epidemiologia , Ansiedade/etiologia , Ansiedade/genética , Depressão/epidemiologia , Depressão/etiologia , Depressão/genética , Doenças em Gêmeos/etiologia , Inglaterra/epidemiologia , Feminino , Humanos , Masculino , Atenção Plena/estatística & dados numéricos , País de Gales/epidemiologia
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