Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 7.012
Filtrar
1.
Sci Immunol ; 9(94): eadj7168, 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38579017

RESUMO

Although human twin studies have revealed the combined contribution of heritable and environmental factors in shaping immune system variability in blood, the contribution of these factors to immune system variability in tissues remains unexplored. The human uterus undergoes constant regeneration and is exposed to distinct environmental factors. To assess uterine immune system variation, we performed a system-level analysis of endometrial and peripheral blood immune cells in monozygotic twins. Although most immune cell phenotypes in peripheral blood showed high genetic heritability, more variation was found in endometrial immune cells, indicating a stronger influence by environmental factors. Cytomegalovirus infection was identified to influence peripheral blood immune cell variability but had limited effect on endometrial immune cells. Instead, hormonal contraception shaped the local endometrial milieu and immune cell composition with minor influence on the systemic immune system. These results highlight that the magnitude of human immune system variation and factors influencing it can be tissue specific.


Assuntos
Gêmeos Dizigóticos , Gêmeos Monozigóticos , Feminino , Humanos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Endométrio , Útero , Sistema Imunitário
2.
Transl Psychiatry ; 14(1): 144, 2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38480692

RESUMO

Flow is a phenomenon where one experiences optimal challenge, marked by an intense, effortless, and rewarding concentration on a task. Past research shows that flow proneness is associated with good mental and cardiovascular health. However, this research has been primarily cross-sectional, based on self-report data, and has not controlled for potential confounding effects of neuroticism. In a large, longitudinal twin sample (N = 9361), we used nationwide patient registry data to test whether flow proneness predicted registry-based diagnoses of depression, anxiety, schizophrenia, bipolar disorder, stress-related disorders, or cardiovascular diseases. We used survival analyses taking time to diagnosis into account to test if (a) there is a relationship between flow proneness and health diagnoses over time, (b) neuroticism confounds this relationship, and (c) the relationship remains present within discordant monozygotic twin pairs (N = 952), thereby controlling for genetic and shared environmental confounding. Individuals with higher flow proneness had a decreased risk of receiving diagnoses for depression (16%; CI [14%, 18%]), anxiety (16%; CI [13%, 18%]), schizophrenia (15%; CI [4%, 25%]), bipolar (12%; CI [6%, 18%]), stress-related (9%; CI [9%, 12%]), and cardiovascular disorders (4%; CI [1%, 8%]). When controlling for neuroticism, higher flow proneness still decreased the risk of depression (6%; CI [3%, 9%]) and anxiety diagnoses (5%; CI [1%, 8%]). Monozygotic twins who experienced more flow than their co-twin had a lower risk for depression (16%; CI [5%, 26%]) and anxiety (13%; CI [1%, 24%]), though only the association with depression remained significant when also controlling for neuroticism (13%; CI [1%, 24%]). Findings are in line with a causal protective role of flow experiences on depression and potentially anxiety and highlight that neuroticism and familial factors are notable confounding factors in observed associations between flow proneness and health outcomes.


Assuntos
Ansiedade , Gêmeos Dizigóticos , Humanos , Estudos Transversais , Estudos Prospectivos , Gêmeos Dizigóticos/genética , Transtornos de Ansiedade/genética , Gêmeos Monozigóticos/genética
3.
BMC Pregnancy Childbirth ; 24(1): 166, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38408929

RESUMO

BACKGROUND: To date, there are no clinical guidelines for dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane (PV-ROM) before 24 weeks of gestation. The typical management options including expectant management and/or pregnant termination, induce the risks of fetal mortality and morbidity. OBJECTIVE: To explore the feasibility selective feticide in DCDA twins complicated with PV-ROM. STUDY DESIGN: A Retrospective cohort study, enrolling 28 DCDA twins suffering from PV-ROM in a tertiary medical center from Jan 01 2012 to Jan 01 2022. The obstetric outcome was compared between selective feticide group and expectant management group. RESULTS: There were 12 cases managed expectantly and 16 underwent selective feticide. More cases suffered from oligohydramnios in expectant management group compared to selective feticide group (P = 0.008). Among 13 cases with ROM of upper sac, the mean gestational age at delivery was (33.9 ± 4.9) weeks in the selective feticide group, which was significantly higher than that in the expectant management (P = 0.038). Five fetuses (83.3%) with selective feticide delivered after 32 weeks, whereas only one (14.3%) case in expectant management group (P = 0.029). However, in the subgroup with ROM of lower sac, no significant difference of the mean gestation age at delivery between groups and none of cases delivered after 32 weeks. CONCLUSION: There was a trend towards an increase in latency interval in DCDA twins with PV-ROM following selective feticide, compared to that with expectant management. Furthermore, selective feticide in cases with PV-ROM of upper sac has a favorable outcome.


Assuntos
Aborto Induzido , Ruptura Prematura de Membranas Fetais , Feminino , Gravidez , Humanos , Lactente , Resultado da Gravidez , Estudos Retrospectivos , Redução de Gravidez Multifetal , Gêmeos Dizigóticos , Gravidez de Gêmeos
4.
Eur Spine J ; 33(4): 1381-1384, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38416191

RESUMO

PURPOSE: Previous studies have suggested that genetic factors are important in the development of degenerative disk disease (DDD). However, the concordance rates for the phenotypes requiring surgery are unknown. The purpose of this study was to determine the concordance rates for DDD requiring surgery by studying monozygotic (MZ) and dizygotic (DZ) twin pairs. METHODS: Patients, aged between 18 and 85 years, operated for DDD between 1996 and 2022 were identified in the national Swedish spine register (Swespine) and matched with the Swedish twin registry (STR) to identify MZ and DZ twins. Pairwise and probandwise concordance rates were calculated. RESULTS: We identified 11,207 patients, 53% women, operated for DDD. By matching the Swespine patients with the STR, we identified 121 twin pairs (37 MZ and 84 DZ) where one or both twins were surgically treated for DDD. The total twin incidence for operated DDD was 1.1%. For DDD requiring surgery, we found no concordant MZ pair and no concordant DZ pair where both twins were operated for DDD. When we evaluated pairs where at least one twin was operated for DDD, we found two concordant MZ pairs (the co-twins were operated for spinal stenosis) and two  concordant DZ pairs (one co-twin operated for spinal stenosis and one (co-twin operated for disk herniation). CONCLUSIONS: Our findings suggest that genetic factors are probably not a major etiologic component in most cases of DDD requiring surgery. The findings of this study can be used for counseling patients about the risk for requiring DDD surgery.


Assuntos
Estenose Espinal , Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Masculino , Gêmeos Monozigóticos/genética , Doenças em Gêmeos/epidemiologia , Doenças em Gêmeos/cirurgia , Doenças em Gêmeos/genética , Gêmeos Dizigóticos/genética , Incidência
5.
Fam Med Community Health ; 12(Suppl 2)2024 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-38341219

RESUMO

This paper proposes the utilisation of twin studies as a novel and powerful methodological approach to investigate critical research questions pertaining to cancer prevention, screening, diagnosis, treatment and survivorship within primary care contexts. The inherent genetic similarity between monozygotic (MZ) (identical) twins provides a unique opportunity to disentangle genetic and environmental influences on cancer-related outcomes. MZ twins share virtually identical genetic makeup, offering a unique opportunity to discern the relative contributions of genetic and environmental factors to cancer-related outcomes. In contrast, dizygotic (DZ) twins, also known as fraternal twins, develop from two separate eggs fertilised by two different sperm and share on average 50% of their genetic material, the same level of genetic similarity found in non-twin siblings. Comparisons between MZ and DZ twins enable researchers to disentangle hereditary factors from shared environmental influences. This methodology has the potential to advance our understanding of the multifaceted interplay between genetic predisposition, lifestyle factors and healthcare interventions in the context of cancer care. This paper outlines the rationale, design considerations and potential applications of twin studies in primary care-based cancer research.


Assuntos
Neoplasias , Sêmen , Masculino , Humanos , Neoplasias/genética , Neoplasias/terapia , Gêmeos Monozigóticos/genética , Gêmeos Dizigóticos/genética , Atenção Primária à Saúde
6.
Int Orthod ; 22(1): 100842, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38217936

RESUMO

INTRODUCTION: This study aimed to discover the genetic and environmental factors that contribute to the mandibular development of untreated monozygotic and dizygotic twins. MATERIAL AND METHODS: The sample, taken from the Forsyth Moorrees Twin Study, included 52 untreated monozygotic twins (36 male, 16 female) and 46 untreated dizygotic twins (23 male, 23 female). At the ages of 12 and 17, lateral cephalograms were collected and traced to assess total mandibular length, mandibular ramus length, mandibular corpus length, gonial angle, SNB, and bony chin prominence. The genetic and environmental components of variation were assessed using multilevel mixed-effects structural equation modelling. RESULTS: At 12 years of age, high additive genetic influences were observed for total mandibular length (74%), gonial angle (76%), SNB (41%), and bony chin prominence (64%), whereas strong dominant genetic components were observed for corpus length (72%), and mandibular ramus length was under unique environment influence (54%). At 17 years of age, only total mandibular length (45%), ramus length (53%), gonial angle (76%), and bony chin prominence (68%) were under strong additive genetic control, while the remainder were under strong dominant genetic control. CONCLUSIONS: Although monozygotic and dizygotic twins share at least a portion of their DNA, additive, dominant, or environmental components were discovered during adolescence. Nonetheless, by the age of 17, the majority of the mandibular traits are under either additive or dominant genetic impact.


Assuntos
Gêmeos Dizigóticos , Gêmeos Monozigóticos , Adolescente , Feminino , Humanos , Masculino , Meio Ambiente , Mandíbula , Estudos Retrospectivos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Estudos de Coortes
7.
BMC Pregnancy Childbirth ; 24(1): 10, 2024 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-38166739

RESUMO

BACKGROUND: Accurate prenatal recognition of discordant fetal growth in twins is critical for deciding suitable management strategies. We explored the predictive value of the level of maternal second-trimester placental growth factor (PLGF) as a novel indicator of discordant fetal growth. METHODS: A total of 860 women pregnant with twins were enrolled, including 168 women with monochorionic twins (31 cases of discordant fetal growth and 137 without) and 692 with dichorionic twins (79 cases of discordant fetal growth and 613 without). Maternal second-trimester PLGF concentrations were measured via immunofluorescence. RESULTS: Maternal second-trimester PLGF levels were significantly lower in women pregnant with twins who subsequently developed discordant fetal growth than in those who did not (monochorionic twin pregnancy: P < 0.001; dichorionic twin pregnancy: P < 0.001). A 3-4 fold difference in median PLGF concentrations was detected between the two groups with both monochorionic and dichorionic twin pregnancies. Maternal second-trimester PLGF levels were significantly correlated with birth weight differences (monochorionic twin pregnancy: r = - 0.331, P < 0.001; dichorionic twin pregnancy: r = - 0.234, P < 0.001). A receiver operating characteristic curve was used to evaluate the predictive efficiency. In monochorionic twin pregnancies, the area under the curve (AUC) was 0.751 (95% confidence interval [CI]: 0.649-0.852), and the cutoff value was 187.5 pg/mL with a sensitivity of 77.4% and specificity of 71.0%. In dichorionic twin pregnancies, the AUC was 0.716 (95% CI; 0.655-0.777), and the cutoff value was 252.5 pg/mL with a sensitivity of 65.1% and specificity of 69.6%. Based on the above cutoff values, univariate and multivariate logistic regression analyses were performed to calculate the odds ratios (OR) for the PLGF levels. After adjustment for potential confounding factors, low PLGF concentrations still significantly increased the risk of discordant fetal growth (monochorionic twin pregnancy: adjusted OR: 7.039, 95% CI: 2.798-17.710, P < 0.001; dichorionic twin pregnancy: adjusted OR: 4.279, 95% CI: 2.572-7.120, P < 0.001). CONCLUSIONS: A low maternal second-trimester PLGF level is considered a remarkable risk factor and potential predictor of discordant fetal growth. This finding provides a complementary screening strategy for the prediction of discordant fetal growth and offers a unique perspective for the subsequent research in this field.


Assuntos
Desenvolvimento Fetal , Fator de Crescimento Placentário , Gêmeos Dizigóticos , Feminino , Humanos , Gravidez , Fator de Crescimento Placentário/sangue , Fator de Crescimento Placentário/química , Gravidez de Gêmeos , Estudos Retrospectivos
8.
Behav Genet ; 54(1): 63-72, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38184818

RESUMO

Nutrition and diet are key modifiable risk factors for the rising burden of non-communicable diseases like cardio-vascular diseases and diabetes in low- and middle- income countries (LMICs). The nutritional transition in dietary behaviours in LMICs has most likely contributed to this problem. Although traditionally assumed to be environmental, dietary choices are also genetically influenced. Twin study designs can be used to investigate the relative influence of genes and environment on nutrition intake, eating behaviours and associated psychological health. The overall aim of this project is to: provide proof-of-concept for the feasibility of using dietary (biomarker) data within the Children-of-Twin design in nutrition studies, develop laboratory skills and statistical genetic skills and establish a Sri Lankan-specific food composition database. Currently, a pilot study is being conducted with 304 individuals (38 Monozygotic twin pairs, 38 Dizygotic twin pairs and their male or female adult offspring). Questionnaire data on nutritional intake, eating behaviours, psychological well-being, physical health, and bio-specimens are being collected. A Sri Lankan-specific food composition database was developed, training sessions on macro and micro element analysis in biological samples and statistical genetics skills development were conducted and Community Engagement and Involvement programs were carried out in two districts of Sri Lanka.


Assuntos
Gêmeos Dizigóticos , Gêmeos Monozigóticos , Adulto , Feminino , Humanos , Masculino , Doenças em Gêmeos/genética , Estudos de Viabilidade , Projetos Piloto , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Crianças Adultas
9.
Ultrasound Obstet Gynecol ; 63(2): 198-205, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37325858

RESUMO

OBJECTIVE: Maternal cardiac function plays a crucial role in placental function and development. The maternal hemodynamic changes in twin pregnancy are more pronounced than those in singleton pregnancy, presumably due to a greater plasma volume expansion. In view of the correlation between maternal cardiac and placental function, it is plausible that chorionicity could influence maternal cardiac function. The aim of this study was to compare the longitudinal maternal hemodynamic changes between uncomplicated dichorionic (DC) and monochorionic (MC) twin pregnancies and in comparison to singleton pregnancies. METHODS: Included in the study were 40 MC diamniotic and 35 DC diamniotic uncomplicated twin pregnancies. These were compared with a group of 294 healthy singleton pregnancies from a previous cross-sectional study. All participants underwent a hemodynamic evaluation using an Ultrasound Cardiac Output Monitor (USCOM®), at three different stages in pregnancy (11-15 weeks, 20-24 weeks and 29-33 weeks). The following parameters were recorded: mean arterial pressure (MAP), stroke volume (SV), stroke volume index (SVI), heart rate, cardiac output (CO), cardiac index (CI), systemic vascular resistance (SVR), systemic vascular resistance index (SVRI), stroke volume variation, Smith-Madigan inotropy index (INO) and potential-to-kinetic-energy ratio (PKR). RESULTS: In the first trimester, DC and MC twin pregnancies showed lower MAP, SVR and PKR and higher CO and SV in comparison to singleton pregnancy. In the second trimester, maternal CO (8.33 vs 7.30 L/min, P = 0.03) and CI (4.52 vs 4.00 L/min/m2 , P = 0.02) were significantly higher in MC compared with DC twin pregnancy. In the third trimester, compared with in singleton pregnancy, women with MC twin pregnancy showed significantly higher PKR (24.06 vs 20.13, P = 0.03) and SVRI (1837.20 vs 1698.48 dynes × s/cm5 /m2 , P = 0.03), and significantly lower SV (78.80 vs 88.80 mL, P = 0.01), SVI (42.79 vs 50.31 mL/m2 , P < 0.01) and INO (1.70 vs 1.87 W/m2 , P = 0.03); these differences were not observed between DC twin and singleton pregnancies. CONCLUSIONS: Maternal cardiovascular function undergoes significant change during uncomplicated twin pregnancy and chorionicity influences maternal hemodynamics. In both MC and DC twin pregnancy, hemodynamic changes are detectable as early as the first trimester, showing higher maternal CO and lower SVR compared with singleton pregnancy. In DC twin pregnancy, the maternal hemodynamics remain stable during the rest of pregnancy. In contrast, in MC twin pregnancy, the rise in maternal CO continues in the second trimester in order to sustain the greater placental growth. There is a subsequent crossover, with a reduction in cardiovascular performance during the third trimester. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Placenta , Gravidez de Gêmeos , Gravidez , Feminino , Humanos , Gravidez de Gêmeos/fisiologia , Hemodinâmica/fisiologia , Débito Cardíaco/fisiologia , Gêmeos Dizigóticos
10.
Cancer Epidemiol Biomarkers Prev ; 33(2): 306-313, 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38059829

RESUMO

BACKGROUND: Cirrus is an automated risk predictor for breast cancer that comprises texture-based mammographic features and is mostly independent of mammographic density. We investigated genetic and environmental variance of variation in Cirrus. METHODS: We measured Cirrus for 3,195 breast cancer-free participants, including 527 pairs of monozygotic (MZ) twins, 271 pairs of dizygotic (DZ) twins, and 1,599 siblings of twins. Multivariate normal models were used to estimate the variance and familial correlations of age-adjusted Cirrus as a function of age. The classic twin model was expanded to allow the shared environment effects to differ by zygosity. The SNP-based heritability was estimated for a subset of 2,356 participants. RESULTS: There was no evidence that the variance or familial correlations depended on age. The familial correlations were 0.52 (SE, 0.03) for MZ pairs and 0.16(SE, 0.03) for DZ and non-twin sister pairs combined. Shared environmental factors specific to MZ pairs accounted for 20% of the variance. Additive genetic factors accounted for 32% (SE = 5%) of the variance, consistent with the SNP-based heritability of 36% (SE = 16%). CONCLUSION: Cirrus is substantially familial due to genetic factors and an influence of shared environmental factors that was evident for MZ twin pairs only. The latter could be due to nongenetic factors operating in utero or in early life that are shared by MZ twins. IMPACT: Early-life factors, shared more by MZ pairs than DZ/non-twin sister pairs, could play a role in the variation in Cirrus, consistent with early life being recognized as a critical window of vulnerability to breast carcinogens.


Assuntos
Neoplasias da Mama , Feminino , Humanos , Mama , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/genética , Mamografia , Fatores de Risco , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
11.
Hum Reprod ; 39(1): 35-42, 2024 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-38052159

RESUMO

Spontaneous dizygotic (DZ) twins, i.e. twins conceived without the use of ARTs, run in families and their prevalence varies widely around the globe. In contrast, monozygotic (MZ) twins occur at a constant rate across time and geographical regions and, with some rare exceptions, do not cluster in families. The leading hypothesis for MZ twins, which arise when a zygote splits during preimplantation stages of development, is random occurrence. We have found the first series of genes underlying the liability of being the mother of DZ twins and have shown that being an MZ twin is strongly associated with a stable DNA methylation signature in child and adult somatic tissues. Because identical twins keep this molecular signature across the lifespan, this discovery opens up completely new possibilities for the retrospective diagnosis of whether a person is an MZ twin whose co-twin may have vanished in the early stages of pregnancy. Here, we summarize the gene finding results for mothers of DZ twins based on genetic association studies followed by meta-analysis, and further present the striking epigenetic results for MZ twins.


Assuntos
Gêmeos Dizigóticos , Gêmeos Monozigóticos , Feminino , Humanos , Gravidez , Fertilização , Estudos de Associação Genética , Estudos Retrospectivos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Recém-Nascido
12.
Artigo em Inglês | MEDLINE | ID: mdl-37862467

RESUMO

OBJECTIVES: The educational gradient in late-life health is well established. Despite this, there are still ambiguities concerning the role of underlying confounding by genetic influences and gene-environment (GE) interplay. Here, we investigate the role of educational factors (attained and genetic propensities) on health and mortality in late life using genetic propensity for educational attainment (as measured by a genome-wide polygenic score, PGSEdu) and attained education. METHODS: By utilizing genetically informative twin data from the Swedish Twin Registry (n = 14,570), we investigated influences of the educational measures, familial confounding as well as the possible presence of passive GE correlation on both objective and subjective indicators of late-life health, that is, the Frailty Index, Multimorbidity, Self-rated health, cardiovascular disease, and all-cause mortality. RESULTS: Using between-within models to adjust for shared familial factors, we found that the relationship between educational level and health and mortality later in life persisted despite controlling for familial confounding. PGSEdu and attained education both uniquely predicted late-life health and mortality, even when mutually adjusted. Between-within models of PGSEdu on the health outcomes in dizygotic twins showed weak evidence for passive GE correlation (prGE) in the education-health relationship. DISCUSSION: Both genetic propensity to education and attained education are (partly) independently associated with health in late life. These results lend further support for a causal education-health relationship but also raise the importance of genetic contributions and GE interplay.


Assuntos
Sucesso Acadêmico , Doenças Cardiovasculares , Humanos , Escolaridade , Gêmeos Dizigóticos/genética
13.
Int Dent J ; 74(1): 66-70, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37482503

RESUMO

OBJECTIVE: The aim of this research was to collate and analyse the data on the oral health knowledge and the related habits of a Hungarian cohort of monozygotic (MZ) and dizygotic (DZ) twins using the newly developed World Health Organisation Oral Health Questionnaire for Adults (Annex 7). METHOD: A total of 15 sets of MZ twins and 14 sets of DZ twins (58 individuals) aged between 18 and 71 years were enrolled in the study. Each participant had to fill out a web-based questionnaire which comprised 23 questions (Google Forms). The data were collated and the oral health/hygiene habits of MZ and DZ twins were compared. RESULTS: No significant differences were detected between MZ and DZ twins with regards to their daily tooth-cleaning habits or the tooth-cleaning products used by the 2 groups. For instance, when asked how often they clean their teeth, 80% of MZ twins and 71% of DZ twins responded similarly. Further, both groups provided similar responses when questioned about the use of fluoride toothpaste, frequency of dental visits, and dental counselling received as well as a number of other parameters such as snacking of sweets and fear of visiting dentists. CONCLUSIONS: Our pilot analysis of the questionnaire responses from MZ and DZ twins in Hungary did not indicate any significant differences in their oral care habits in general. Further studies with a large cohort are required to confirm or refute our findings.


Assuntos
Saúde Bucal , Gêmeos Dizigóticos , Adulto , Humanos , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Projetos Piloto , Hungria , Hábitos
14.
Am J Obstet Gynecol ; 230(1): 83.e1-83.e11, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37487855

RESUMO

BACKGROUND: Crown-rump length discordance, defined as ≥10% discordance, has been investigated as an early sonographic marker of subsequent growth abnormalities and is associated with an increased risk of fetal loss in twin pregnancies. Previous studies have not investigated the prevalence of fetal aneuploidy or structural anomalies in twins with discordance or the independent association of crown-rump length discordance with adverse perinatal outcomes. Moreover, data are limited on cell-free DNA screening for aneuploidy in dichorionic twins with discordance. OBJECTIVE: This study aimed to evaluate whether crown-rump length discordance in dichorionic twins between 11 and 14 weeks of gestation is associated with a higher risk of aneuploidy, structural anomalies, or adverse perinatal outcomes and to assess the performance of cell-free DNA screening in dichorionic twin pregnancies with crown-rump length discordance. STUDY DESIGN: This was a secondary analysis of a multicenter retrospective cohort study that evaluated the performance of cell-free DNA screening for the common trisomies in twin pregnancies from December 2011 to February 2020. For this secondary analysis, we included live dichorionic pregnancies with crown-rump length measurements between 11 and 14 weeks of gestation. First, we compared twin pregnancies with discordant crown-rump lengths with twin pregnancies with concordant crown-rump lengths and analyzed the prevalence of aneuploidy and fetal structural anomalies in either twin. Second, we compared the prevalence of a composite adverse perinatal outcome, which included preterm birth at <34 weeks of gestation, hypertensive disorders of pregnancy, stillbirth or miscarriage, small-for-gestational-age birthweight, and birthweight discordance. Moreover, we assessed the performance of cell-free DNA screening in pregnancies with and without crown-rump length discordance. Outcomes were compared with multivariable regression to adjust for confounders. RESULTS: Of 987 dichorionic twins, 142 (14%) had crown-rump length discordance. The prevalence of aneuploidy was higher in twins with crown-rump length discordance than in twins with concordance (9.9% vs 3.9%, respectively; adjusted relative risk, 2.7; 95% confidence interval, 1.4-4.9). Similarly, structural anomalies (adjusted relative risk, 2.5; 95% confidence interval, 1.4-4.4]) and composite adverse perinatal outcomes (adjusted relative risk, 1.2; 95% confidence interval, 1.04-1.3) were significantly higher in twins with discordance. A stratified analysis demonstrated that even without other ultrasound markers, there were increased risks of aneuploidy (adjusted relative risk, 3.5; 95% confidence interval, 1.5-8.4) and structural anomalies (adjusted relative risk, 2.7; 95% confidence interval, 1.5-4.8) in twins with CRL discordance. Cell-free DNA screening had high negative predictive values for trisomy 21, trisomy 18, and trisomy 13, regardless of crown-rump length discordance, with 1 false-negative for trisomy 21 in a twin pregnancy with discordance. CONCLUSION: Crown-rump length discordance in dichorionic twins is associated with an increased risk of aneuploidy, structural anomalies, and adverse perinatal outcomes, even without other sonographic abnormalities. Cell-free DNA screening demonstrated high sensitivity and negative predictive values irrespective of crown-rump length discordance; however, 1 false-negative result illustrated that there is a role for diagnostic testing. These data may prove useful in identifying twin pregnancies that may benefit from increased screening and surveillance and are not ascertained by other early sonographic markers.


Assuntos
Ácidos Nucleicos Livres , Síndrome de Down , Nascimento Prematuro , Gravidez , Feminino , Recém-Nascido , Humanos , Estatura Cabeça-Cóccix , Resultado da Gravidez , Peso ao Nascer , Estudos Retrospectivos , Nascimento Prematuro/etiologia , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal/efeitos adversos , Gêmeos Dizigóticos , Gravidez de Gêmeos , Trissomia
15.
Appl Neuropsychol Child ; 13(1): 84-91, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37480577

RESUMO

In 2005, the 3q29 deletion syndrome was identified and defined as a rare chromosomal anomaly that effects approximately one in 30,000-40,000 children. It has a complex neuropsychiatric profile, often resulting in developmental delays, intellectual disabilities, attentional deficits, classic physical traits, and behavioral health disturbances, including social and emotional issues. Rarely has this syndrome been seen and evaluated in fraternal twins, only one of whom has the 3q29 deletion syndrome. This case study highlights Twin 1's strengths and weaknesses and compares her 2020 neuropsychological data, including a comparison of her Reitan-Indiana Neuropsychological Battery (RINB) results to her 2022 profile, which reveals a failure-to-thrive profile.


Assuntos
Transtornos Cromossômicos , Deficiência Intelectual , Criança , Feminino , Humanos , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/psicologia , Deleção Cromossômica , Gêmeos Dizigóticos , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Deficiência Intelectual/genética , Deficiência Intelectual/psicologia
16.
Ultrasound Obstet Gynecol ; 63(2): 181-188, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37842873

RESUMO

OBJECTIVE: To derive reference distributions of estimated fetal weight (EFW) in twins relative to singletons. METHODS: Gestational-age- and chorionicity-specific reference distributions for singleton percentiles and EFW were fitted to data on 4391 twin pregnancies with two liveborn fetuses from four European centers, including 3323 dichorionic (DC) and 1068 monochorionic diamniotic (MCDA) twin pregnancies. Gestational age was derived using the larger of the two crown-rump length measurements obtained during the first trimester of pregnancy. EFW was obtained from ultrasound measurements of head circumference, abdominal circumference and femur length using the Hadlock formula. Singleton percentiles were obtained using the Fetal Medicine Foundation population weight charts for singleton pregnancies. Hierarchical models were fitted to singleton Z-scores with autoregressive terms for serial correlations within the same fetus and between twins from the same pregnancy. Separate models were fitted for DC and MCDA twins. RESULTS: Fetuses from twin pregnancies tended to be smaller than singletons at the earliest gestational ages (16 weeks for MCDA and 20 weeks for DC twins). This was followed by a period of catch-up growth until around 24 weeks. After that, both DC and MCDA twins showed reduced growth. In DC twins, the EFW corresponding to the 50th percentile was at the 50th percentile of singleton pregnancies at 23 weeks, the 43rd percentile at 28 weeks, the 32nd percentile at 32 weeks and the 22nd percentile at 36 weeks. In MCDA twins, the EFW corresponding to the 50th percentile was at the 36th percentile of singleton pregnancies at 24 weeks, the 29th percentile at 28 weeks, the 19th percentile at 32 weeks and the 12th percentile at 36 weeks. CONCLUSIONS: In DC and, to a greater extent, MCDA twin pregnancies, fetal growth is reduced compared with that observed in singleton pregnancies. Furthermore, after 24 weeks, the divergence in growth trajectories between twin and singleton pregnancies becomes more pronounced as gestational age increases. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Desenvolvimento Fetal , Perinatologia , Gravidez , Feminino , Humanos , Gravidez de Gêmeos , Idade Gestacional , Peso Fetal , Gêmeos Dizigóticos , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/epidemiologia
17.
PLoS One ; 18(12): e0294162, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38055659

RESUMO

OBJECTIVE: The relationship between obesity and mental health is complex and is moderated by the level of obesity, age, sex, and social and genetic factors. In the current study, we used a unique co-twin control design, with twin pairs discordant for body mass index (BMI), to control for shared genetic and environmental effects between obesity and several dimensions of mental health. METHODS: We studied 74 monozygotic (MZ) twin pairs, of whom 36 were BMI-discordant (intra-pair difference in BMI ≥ 3 kg/m2), and 77 dizygotic (DZ) twin pairs (46 BMI-discordant). We assessed subjective health, especially mental health and mental well-being (depression, anxiety, self-esteem, health-related quality of life, life satisfaction, and social well-being) through questionnaires. RESULTS: Heavier MZ co-twins from BMI-discordant pairs had poorer general health (58.8±3.0 vs. 72.4±3.8, P = 0.001, FDR = 0.017 on a scale from 0 to 100 where higher scores indicate more positive results), physical functioning (90.3±1.1 vs. 95.5±2.2, P = 0.024, FDR = 0.122), energy levels (55.6±3.4 vs. 66.6±3.3, P = 0.013, FDR = 0.109), and emotional well-being (65.9±3.2 vs. 75.4±2.9, P = 0.031, FDR = 0.122), as well as a tendency for depressive symptoms (8.4±1.3 vs. 5.6±0.9, P = 0.071, FDR = 0.166) compared to their leaner co-twins. Heavier DZ co-twins had poorer total physical well-being (91.6±1.9 vs. 95.6±1.0, P = 0.035, FDR = 0.356) and more depressive symptoms (4.3±0.9 vs. 2.4±0.5, P = 0.016, FDR = 0.345 on a scale from 0 to 63 where lower scores indicate fewer depressive symptoms) than their leaner co-twins. Association analyses, using all twin pairs, confirmed that higher BMI within pairs linked to general health, physical functioning and depressive symptoms. No association was found between BMI and anxiety, self-esteem, life satisfaction, or social well-being. CONCLUSIONS: In conclusion, this study underscores the notable association between elevated BMI and physical well-being and to a lesser extent between elevated BMI and depressive symptoms, while revealing no discernible connections with anxiety, self-esteem, life satisfaction, or social well-being.


Assuntos
Qualidade de Vida , Gêmeos Monozigóticos , Humanos , Adulto Jovem , Índice de Massa Corporal , Nível de Saúde , Obesidade/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
18.
Obesity (Silver Spring) ; 31(12): 3086-3094, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37987187

RESUMO

OBJECTIVE: This study investigated 36-year BMI trajectories in twins whose BMI in young adulthood was below, within, or above their genetically predicted BMI, with a focus on twin pairs with large intrapair BMI differences (within-pair ΔBMI ≥ 3 kg/m2 ). METHODS: Together, 3227 like-sexed twin pairs (34% monozygotic) were examined at age ~30 years in 1975 and followed up in 1981, 1990, and 2011. An individual's observed BMI in 1975 was considered within (±2.0), below (<-2.0), or above (>+2.0) genetically predicted BMI, measured by a polygenic risk score of 996,919 single nucleotide polymorphisms. RESULTS: In monozygotic and dizygotic twin pairs with large intrapair BMI differences, the co-twin with a higher observed BMI in 1975 deviated above predicted BMI more frequently (~2/3) than the co-twin with a lower BMI deviated below prediction (~1/3). Individuals below, within, and above prediction in 1975 reached, respectively, normal weight, overweight, and obesity by 2011, with a mean BMI increase of 4.5 (95% CI: 4.3-4.8). CONCLUSIONS: Categorizing BMI as below, within, or above polygenic risk score-predicted BMI helps identifying individuals who have been resistant or susceptible to weight gain. This may provide new insights into determinants and consequences of obesity.


Assuntos
Obesidade , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Adulto , Humanos , Índice de Massa Corporal , Finlândia/epidemiologia , Estudos Longitudinais , Obesidade/epidemiologia , Obesidade/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Masculino , Feminino
19.
BMC Oral Health ; 23(1): 735, 2023 10 09.
Artigo em Inglês | MEDLINE | ID: mdl-37814291

RESUMO

OBJECTIVE: The aims of this study were to investigate and compare the prevalence of dental caries and the frequency of oral habits, molar relationships and occlusal traits between children of multiple births, and singletons, and to determine the relative contributions of genetics and environmental factors to these parameters by using twin study design. METHODS: The study group consisted of 345 multiple births (34 monozygotic and 122 dizygotic twin pairs, 11 sets of triplets) and 345 singletons between the ages of 2 and 17. The prevalence of dental caries, and the frequency of tooth brushing, the children's oral habits, molar relationships, and occlusal traits were recorded. RESULTS: The percentage of children who brushed their teeth more than twice daily was statistically significantly higher in multiple births than in singletons. Higher correlation coefficients were found in dental caries index, except for decayed, filled (df) (2-5 age group) and filled (f) (6-11 age group), in the monozygotic twin pairs compared to those in the dizygotic twin pairs. In children between the ages of 6 and 11 years, mouth breathing, bruxism, lip biting, and pencil biting were higher in singletons than in children of multiple births. There were statistically significant differences between children of multiple births and singletons, with increased overjet in the 2-5 year age group being observed. CONCLUSION: When analyzing these parameters, environmental factors must also be investigated. Due to the low incidence of twin births, longitudinal follow-up studies with more twin pairs are necessary to determine whether these results are generalizable.


Assuntos
Bruxismo , Cárie Dentária , Dente , Adolescente , Criança , Pré-Escolar , Humanos , Cárie Dentária/epidemiologia , Cárie Dentária/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
20.
Sci Rep ; 13(1): 17456, 2023 10 14.
Artigo em Inglês | MEDLINE | ID: mdl-37838734

RESUMO

Considerable evidence supports the role of present-moment attention, a central feature of mindfulness, in subjective wellbeing maintenance and enhancement. Yet it is not clear why such a relation exists. This study examined the genetic and environmental contributions of present-moment attention to subjective wellbeing. Consistent with the "generalist genes hypothesis" and prior evidence, we hypothesized that presence and subjective wellbeing would show a substantial genetic correlation and smaller environmental correlation. Using a large epidemiological sample of healthy 16-year-old twins in the United Kingdom (N = 1136 monozygotic (MZ) and dizygotic (DZ) twin pairs), genetic overlap was found between presence and the cognitive component of subjective wellbeing (life satisfaction), and to a lesser extent, the affective component of subjective wellbeing (operationalized as happiness). The non-shared environmental overlap between these constructs was substantial. This study provides the first evidence known to us showing that present-centered attention, a primary component of mindfulness, has both genetic and environmental overlap with subjective wellbeing. The findings have implications for understanding mechanisms by which presence is associated with positive emotions and life satisfaction, and suggest, pending additional research, that mindfulness-based interventions to enhance wellbeing may be best suited to those with a genetic propensity toward mindful presence.


Assuntos
Atenção Plena , Gêmeos Dizigóticos , Humanos , Adolescente , Gêmeos Dizigóticos/genética , Gêmeos Dizigóticos/psicologia , Felicidade , Reino Unido , Gêmeos Monozigóticos/genética , Gêmeos Monozigóticos/psicologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...