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1.
Front Cell Infect Microbiol ; 11: 676988, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34350131

RESUMO

Objective: The objectives are to estimate the vertical transmission rate in twins relative to singleton pregnancies, to evaluate whether discordance within twin pairs is rare, and to characterize concordance within monozygotic and dizygotic twin pairs in relation to hereditability. Methods: We first sought to estimate the vertical transmission rate of congenital CMV infection in twins by gathering cohort-based studies of congenital CMV in which vertical transmission in both singleton and twin pregnancies was reported. This also allowed us to compare singleton and twin infection rates. From the above studies and other large cohorts of congenitally infected infants, the percentage of discordantly infected twin pairs determined whether this is a rare phenomenon. Theorizing discordance is not rare, we then analyzed data from cases with twin outcomes for congenital CMV infection, according to whether the twins were monozygotic or dizygotic, and calculated their corresponding concordance rates to estimate the broad-sense heritability. Lastly, we described other factors that might affect vertical transmission. Results: From five articles following at-risk pregnancies, the rate of vertical transmission in twin pregnancies is 58.7% (95% CI 43.3-72.3%) whereas in singleton pregnancies it is 31.4% (95% CI: 29.0-34.0%) p = 0.0002. Of ten studies of larger cohorts of infants with congenital CMV infection, 21 of 42 twin pairs with at least one twin infected were discordant for congenital CMV (50.0%, 95% CI: 34.4-65.6%) indicating discordance of congenital CMV infection in twin pairs is not rare. Of 28 studies covering 37 twin pairs where at least one twin had congenital CMV, and zygosity was known, eleven of thirteen monozygotic twin pairs (84.6%; 95% CI: 53.7-97.3%) were concordant for CMV infection, and nine of twenty-four dizygotic twin pairs (37.5%; 95% CI: 19.6-59.2%) were concordant for infection giving an estimated hereditability of 94.2%. Within these 37 twin pairs, factors such as primary or recurrent maternal infection, prematurity, growth discordance, and sex are described; however, in many of these cases these factors are unknown. Conclusion: The rate of vertical transmission of congenital CMV is higher for twins than singletons. Discordance of congenital CMV in twins is not rare and suggests a possible genetic susceptibility to congenital CMV.


Assuntos
Citomegalovirus , Gravidez de Gêmeos , Citomegalovirus/genética , Doenças em Gêmeos , Feminino , Humanos , Gravidez , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
2.
Transl Psychiatry ; 11(1): 416, 2021 08 02.
Artigo em Inglês | MEDLINE | ID: mdl-34341332

RESUMO

Depression is currently the leading cause of disability around the world. We conducted an epigenome-wide association study (EWAS) in a sample of 58 depression score-discordant monozygotic twin pairs, aiming to detect specific epigenetic variants potentially related to depression and further integrate with gene expression profile data. Association between the methylation level of each CpG site and depression score was tested by applying a linear mixed effect model. Weighted gene co-expression network analysis (WGCNA) was performed for gene expression data. The association of DNA methylation levels of 66 CpG sites with depression score reached the level of P < 1 × 10-4. These top CpG sites were located at 34 genes, especially PTPRN2, HES5, GATA2, PRDM7, and KCNIP1. Many ontology enrichments were highlighted, including Notch signaling pathway, Huntington disease, p53 pathway by glucose deprivation, hedgehog signaling pathway, DNA binding, and nucleic acid metabolic process. We detected 19 differentially methylated regions (DMRs), some of which were located at GRIK2, DGKA, and NIPA2. While integrating with gene expression data, HELZ2, PTPRN2, GATA2, and ZNF624 were differentially expressed. In WGCNA, one specific module was positively correlated with depression score (r = 0.62, P = 0.002). Some common genes (including BMP2, PRDM7, KCNIP1, and GRIK2) and enrichment terms (including complement and coagulation cascades pathway, DNA binding, neuron fate specification, glial cell differentiation, and thyroid gland development) were both identified in methylation analysis and WGCNA. Our study identifies specific epigenetic variations which are significantly involved in regions, functional genes, biological function, and pathways that mediate depression disorder.


Assuntos
Metilação de DNA , Gêmeos Monozigóticos , Biomarcadores , Ilhas de CpG/genética , DNA , Depressão , Epigênese Genética , Proteínas Hedgehog , Humanos , Transcriptoma , Gêmeos Monozigóticos/genética
4.
BMJ Case Rep ; 14(7)2021 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-34326114

RESUMO

In twin pregnancies, amnionicity and chorionicity are crucial as they strongly determine prenatal and perinatal management. First trimester ultrasound allows a highly reliable diagnosis of amnionicity and chorionicity, making it an internationally accepted standard in antenatal care. However, in rare cases, amnionicity can change from diamniotic to monoamniotic throughout pregnancy, substantially impacting perinatal management. We report the case of a confirmed monochorionic diamniotic twin pregnancy with a diagnosis of spontaneous septostomy of the dividing membrane (SSDM) at 28 weeks of gestation, resulting in a pseudomonoamniotic pregnancy. Even though SSDM is a rare condition and its sonographic diagnosis might be challenging, it should be considered if, in a known diamniotic pregnancy, there is a sudden failure to visualise the intertwin membrane truly separating both twins.


Assuntos
Córion , Ultrassonografia Pré-Natal , Âmnio/diagnóstico por imagem , Âmnio/cirurgia , Córion/diagnóstico por imagem , Feminino , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Gravidez de Gêmeos , Gêmeos , Gêmeos Monozigóticos
5.
J Obstet Gynaecol Res ; 47(9): 3127-3135, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34137119

RESUMO

INTRODUCTION: Our study compared the prospective risks of intrauterine fetal death (IUFD), neonatal death (NND), perinatal death (PND), and neonatal morbidities in monochorionic diamniotic (MCDA) and dichorionic diamniotic (DCDA) twin pregnancies. METHODS: This retrospective cohort study included twin pregnancies who had antenatal care and delivery in a public hospital from 2011 to 2018. Exclusion criteria included monoamnionicity, one/both twin miscarriage, twin-twin transfusion syndrome, or lethal congenital abnormalities. All twins were managed in multiple pregnancy clinic with standardized protocols. Gestational age-specific IUFD, NND, PND, and neonatal morbidity rates were compared according to chorionicity. RESULTS: Three hundred seventy-eight MCDA and 1282 DCDA twins were included. MCDA twins had higher risks of PND (1.9% vs. 0.7% in DCDA twins, p = 0.05), composite neonatal morbidity (p = 0.01), preterm delivery (p < 0.01), and low birth weight (p < 0.01). The prospective risk of IUFD was 0.6% and 0.4% for MCDA and DCDA twins, respectively after 34 weeks' gestation. No NND occurred among deliveries after 30 weeks. The risk of neonatal morbidity of MCDA twins fell from 22.7% at 34 weeks to 2.7% at 37 weeks (p < 0.01). For DCDA twins, the risk of morbidity fell insignificantly from 36 to 38 weeks (4.0% vs. 3.4%, p = 0.60). Logistic regression analysis suggested that the increased risk of perinatal morbidities was related to the higher rate of preterm delivery in MCDA twins rather than chorionicity. CONCLUSION: With close fetal monitoring, the risk of late IUFD in twin pregnancies without major complications is low. Perinatal morbidity can be minimized by avoiding late preterm deliveries in twin pregnancies.


Assuntos
Gravidez de Gêmeos , Natimorto , Feminino , Humanos , Recém-Nascido , Gravidez , Estudos Prospectivos , Estudos Retrospectivos , Natimorto/epidemiologia , Gêmeos Dizigóticos , Gêmeos Monozigóticos
6.
Acta Obstet Gynecol Scand ; 100(9): 1688-1693, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34075586

RESUMO

INTRODUCTION: This study aimed to explore the differences in placental characteristics among three types of selective fetal growth restriction (sFGR) in monochorionic diamniotic twin pregnancies. MATERIAL AND METHODS: A total of 123 placentas with sFGR between April 2013 and October 2019 were retrospectively analyzed after dye injection. Placental characteristics were compared among the three types. RESULTS: The gestational age at diagnosis and delivery was less in sFGR II and III than in sFGR I (22.9 [21.7-33.6], 23.3 [20.0-26.1] and 25.7 [19.0-35.0] weeks, p < 0.001; 32.3 [31.6-35.1], 34.1 [29.9-34.7] and 35.5 [34.0-37.0] weeks, p < 0.001). The birthweight discordance ratio was less in sFGR I than in sFGR II (0.28 [0.14-0.43] and 0.30 [0.23-0.37], p < 0.001). The prevalence of a thick artery-artery anastomosis was higher in sFGR III than in sFGR I or II (81.8%, 44.9% and 48.6%, p = 0.010). The placental territory discordance ratio was higher in sFGR II and III than in sFGR I (0.60 [0.17-0.88], 0.60 [0.01-0.80] and 0.50 [0.01-0.71], p = 0.001). CONCLUSIONS: Compared with sFGR I, the earlier onset time of sFGR II and III might be due to their higher placental territory discordance. The prevalence of thick artery-artery anastomoses was expected to be higher in sFGR III than in sFGR I or II.


Assuntos
Retardo do Crescimento Fetal/diagnóstico por imagem , Placenta/fisiopatologia , Gravidez de Gêmeos , Gêmeos Monozigóticos , Ultrassonografia Pré-Natal , Artérias Umbilicais/fisiologia , Adulto , Velocidade do Fluxo Sanguíneo , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Gravidez , Fluxo Pulsátil , Estudos Retrospectivos , Adulto Jovem
7.
J Psychiatr Res ; 140: 197-204, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34118637

RESUMO

Cognitive impairment is the most prominent symptom in neurodegenerative disorders affecting quality of life and mortality. However, despite years of research, the molecular mechanism underlying the regulation of cognitive function and its impairment is poorly understood. This study aims to elucidate the role of long non-coding RNAs (lncRNAs) expression and lncRNA-mRNA interaction networks, by analyzing lncRNA expression in whole blood samples of 400 middle and old aged monozygotic twins in association with cognitive function using both linear models and a generalized correlation coefficient (GCC) to capture the diverse patterns of correlation. We detected 13 probes (p < 1e-03) displaying nonlinear and 7 probes (p < 1e-03) showing linear correlations. After combining the results, we identified 20 lncRNA probes with p < 1e-03. The top lncRNA probes were annotated to genes, along with the non-coding MALAT1, that play roles in neurodegenerative diseases. The top lncRNAs were linked to functional clusters including peptidyl-glycine modification, vascular smooth muscle cells, mitotic spindle organization and protein tyrosine phosphatase. In addition, mapping of the top significant lncRNAs to the lncRNA-mRNA interaction network detected significantly enriched biological pathways involving neuroactive ligand-receptor interaction, proteasome and chemokines. We show that GCC served as a complementary approach in detecting lncRNAs missed by the conventional linear models. A combination of GCC and linear models identified lncRNAs of diverse patterns of association enriched for GO biological and molecular functions meaningful in cognitive performance and cognitive decline. The novel lncRNA regulatory network further contributed to detect significant pathways implicated in cognition.


Assuntos
RNA Longo não Codificante , Idoso , Cognição , Perfilação da Expressão Gênica , Redes Reguladoras de Genes , Humanos , Pessoa de Meia-Idade , Qualidade de Vida , RNA Longo não Codificante/genética , Gêmeos Monozigóticos/genética
8.
Obstet Gynecol Clin North Am ; 48(2): 401-417, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33972074

RESUMO

Multifetal gestation pregnancies present a clinical challenge due to unique complications including growth issues, prematurity, maternal risk, and pathologic processes, such as selective intrauterine growth restriction (sIUGR), twin-to-twin transfusion syndrome (TTTS), and twin anemia-polycythemia sequence. If sIUGR is found, then management may involve some combination of increased surveillance, fetal procedures, and/or delivery. The combination of sIUGR with TTTS or other comorbidities increases the risk of pregnancy complications. Multifetal pregnancy reduction is an option when a problem is confined to a single fetus or when weighing the risks and benefits of a multifetal gestation in comparison to a singleton pregnancy.


Assuntos
Desenvolvimento Fetal , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/terapia , Gravidez de Gêmeos , Anemia/epidemiologia , Comorbidade , Parto Obstétrico/métodos , Feminino , Retardo do Crescimento Fetal/epidemiologia , Transfusão Feto-Fetal/epidemiologia , Humanos , Policitemia/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Redução de Gravidez Multifetal/métodos , Fatores de Risco , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Ultrassonografia Pré-Natal/métodos
10.
Aging (Albany NY) ; 13(10): 14039-14052, 2021 05 25.
Artigo em Inglês | MEDLINE | ID: mdl-34032609

RESUMO

We investigated whether lifestyle influences epigenetic aging in 143 monozygotic twin pairs discordant for the combined healthy lifestyle score. Twins were scored for four lifestyle factors as unhealthy or healthy; non-smoker, moderate drinker, adequate fruit and vegetable intake, and sufficient physical activity. The combined healthy lifestyle score was calculated for each participant by summing the binary score for each factor. Individual and co-twin analyses were used to assess the relationship between single or combined lifestyle scores, along with DNA methylation age acceleration (AA) calculated using Horvath's and Li's epigenetic clocks, focusing on AA and intrinsic epigenetic age acceleration (IEAA) measures. Compared with the twins that scored no or one healthy lifestyle point, those who scored four healthy lifestyle points had lower Li_IEAA with similar results observed in the co-twin analysis. No significant relationships were found in analyses based on Horvath's clock, although the direction of correlations was consistent with that determined using Li's clock. Smoking and drinking did not significantly affect DNA methylation AA; however, physical activity and intake of vegetables and fruits did, although the influence varied depending on the epigenetic clock. Our findings suggest that a healthy lifestyle may be an important way to delay aging and prevent age-related diseases.


Assuntos
Envelhecimento/genética , Epigênese Genética , Estilo de Vida Saudável , Gêmeos Monozigóticos/genética , Consumo de Bebidas Alcoólicas , Metilação de DNA/genética , Exercício Físico , Feminino , Frutas , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Fumar , Verduras
11.
Int J Mol Sci ; 22(7)2021 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-33810554

RESUMO

Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous overgrowth disease. BWS is caused by (epi)genetic defects at the 11p15 chromosomal region, which harbors two clusters of imprinted genes, IGF2/H19 and CDKN1C/KCNQ1OT1, regulated by differential methylation of imprinting control regions, H19/IGF2:IG DMR and KCNQ1OT1:TSS DMR, respectively. A subset of BWS patients show multi-locus imprinting disturbances (MLID), with methylation defects extended to other imprinted genes in addition to the disease-specific locus. Specific (epi)genotype-phenotype correlations have been defined in order to help clinicians in the classification of patients and referring them to a timely diagnosis and a tailored follow-up. However, specific phenotypic correlations have not been identified among MLID patients, thus causing a debate on the usefulness of multi-locus testing in clinical diagnosis. Finally, the high incidence of BWS monozygotic twins with discordant phenotypes, the high frequency of BWS among babies conceived by assisted reproductive technologies, and the female prevalence among BWS-MLID cases provide new insights into the timing of imprint establishment during embryo development. In this review, we provide an overview on the clinical and molecular diagnosis of single- and multi-locus BWS in pre- and post-natal settings, and a comprehensive analysis of the literature in order to define possible (epi)genotype-phenotype correlations in MLID patients.


Assuntos
Síndrome de Beckwith-Wiedemann/diagnóstico , Síndrome de Beckwith-Wiedemann/genética , Impressão Genômica , Análise por Conglomerados , Inibidor de Quinase Dependente de Ciclina p57/genética , Metilação de DNA , Epigênese Genética , Feminino , Inativação Gênica , Estudos de Associação Genética , Humanos , Fator de Crescimento Insulin-Like II/genética , Masculino , Fenótipo , Canais de Potássio de Abertura Dependente da Tensão da Membrana/genética , Diagnóstico Pré-Natal , Técnicas de Reprodução Assistida , Gêmeos Monozigóticos , Inativação do Cromossomo X
12.
Twin Res Hum Genet ; 24(1): 89-94, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33900160

RESUMO

Modern reproductive technology and revisions of conventional family structures have yielded a curious array of twin-like sibships. Many of these pairings pose the same rearing questions and educational issues for parents and teachers as do ordinary monozygotic and dizygotic twins. This article considers how we classify these sibships, given the important implications for the pair members, their families, their friends and the professionals who care for them. Next, reviews of research on twins' birth weight and brain development, twinning and vocabulary knowledge, fetal loss in twin pregnancy and twin-family Olympic medal winners are presented. The final topic covers recent media attention to young twin soldiers, a twin-run laundry, a male-female pair's political differences, a twin-based graphic novel and twin sisters' deliveries.


Assuntos
Distinções e Prêmios , Militares , Peso ao Nascer , Encéfalo , Feminino , Humanos , Masculino , Política , Gravidez , Gravidez de Gêmeos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos , Vocabulário
13.
Twin Res Hum Genet ; 24(1): 14-21, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33900162

RESUMO

The objective of this study was to investigate how different obesity measures link to circulating metabolites, and whether the connections are due to genetic or environmental factors. A cross-sectional analysis was performed on follow-up survey data at the Chinese National Twin Registry (CNTR), which was conducted in four areas of China (Shandong, Jiangsu, Zhejiang and Sichuan) in 2013. The survey collected detailed questionnaire information and conducted physical examinations, fasting blood sampling and untargeted metabolomic measurements among 439 adult twins. Linear regression models and bioinformatics analysis were used to examine the relation of obesity measures, including body mass index (BMI), waist circumference (WC) and waist-to-hip ratio (WHR) with serum metabolite levels and related pathways. A co-twin control study was additionally conducted among 15 obesity-discordant monozygotic (MZ) pairs (intrapair BMI difference >3 kg/m2) to examine any differences in metabolites controlling for genetic factors. Eleven metabolites were associated with BMI, WC and WHR after controlling for genetic and shared environmental factors. Pathway analysis identified pathways such as phenylalanine metabolism, purine metabolism, valine, leucine and isoleucine biosynthesis that were associated with obesity. A wide range of unfavorable alterations in the serum metabolome was associated with obesity. Obesity-discordant twin analysis suggests that these associations are independent of genetic liability.


Assuntos
Obesidade , Gêmeos Monozigóticos , Adulto , Índice de Massa Corporal , China , Estudos Transversais , Humanos , Obesidade/genética , Gêmeos Monozigóticos/genética
14.
J Obstet Gynaecol Res ; 47(7): 2338-2346, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33899318

RESUMO

AIM: To investigate the prevalence of qualitative abnormal umbilical artery Doppler waveforms (Abnormal UA) during the early second trimester and the subsequent variation of waveforms in monochorionic diamniotic (MCDA) twin pregnancies. METHODS: This prospective cohort study included 153 MCDA twin pregnancies. Pulsed Doppler examinations for UA were performed at four points, including the free-loop (FL) and near the placental cord insertion site (CI) of each UA, between 16 and 17 weeks' gestation. Cases were classified into positive diastolic waveforms (Type I), persistent Abnormal UA (Type II), and intermittent Abnormal UA (Type III). When the diastolic velocity in UA Doppler was positive twice after different sequential recordings, the cases were determined to have achieved normalization. Follow-up Doppler examinations of the UA were performed at 24, 28, and 32 weeks' gestation. RESULTS: Of all 153 cases, 38 (25%; 19 Type II and 19 Type III cases) showed Abnormal UA at the first examination. Abnormal UA was detectable at FL in all selective intrauterine growth restriction (sIUGR) cases, whereas it was noted only at CI site in some non-sIUGR cases. Abnormal UA normalized in 12 (63%) Type II and 15 (79%) Type III cases. CONCLUSIONS: A quarter of MCDA twin pregnancies in the early second trimester demonstrated Abnormal UA. In MCDA twins with Abnormal UA between 16 and 17 weeks' gestation, it is preferable to follow them up to consider the possibility of normalization of Abnormal UA as well as features of UA waveforms specific to FL and CI.


Assuntos
Gravidez de Gêmeos , Artérias Umbilicais , Feminino , Retardo do Crescimento Fetal , Humanos , Placenta , Gravidez , Segundo Trimestre da Gravidez , Prevalência , Estudos Prospectivos , Gêmeos Monozigóticos , Ultrassonografia Pré-Natal , Artérias Umbilicais/diagnóstico por imagem
16.
Neuroscience ; 465: 60-70, 2021 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-33887385

RESUMO

Twins provide a valuable perspective for exploring the pathological mechanism of autism spectrum disorder (ASD). We aim to analyze differences in the topological properties of the white matter (WM) network between monozygotic twins with ASD (MZCo-ASD) and children with typical development (TD). We enrolled 67 subjects aged 2-9 years. Twenty-three pairs of MZCo-ASD and 21 singleton children with TD completed clinical assessments and diffusion tensor imaging (DTI). Graph theory was used to compare the topological properties of the WM network between the two groups, and analyzed their correlations with the severity of clinical symptoms. We found that the global efficiency (Eg) of MZCo-ASD is weaker than that of TD children, while the shortest path length (Lp) of MZCo-ASD is longer than that of TD children, and MZCo-ASD have three unique hubs (the bilateral dorsolateral superior frontal gyrus and right insula). Eg and Lp were both correlated with the repetitive behavior scores of the Autism Diagnostic Interview-Revised (ADI-R) in the MZCo-ASD group, and the nodal efficiency of the dorsal superior frontal gyrus (SFGdor) was correlated with the ADI-R scores of repetitive behaviors. Left SFGdor nodal efficiency was correlated with Repetitive Behavior and Communication, two core symptoms of autism. The results implicated that MZCo-ASD had atypical brain structural network attributes and node distributions. Using MZCo-ASD, we found that the WM topological properties that correlate with the severity of ASD core symptoms were Eg, Lp, and the nodal efficiency of the SFGdor.


Assuntos
Transtorno do Espectro Autista , Substância Branca , Transtorno do Espectro Autista/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Criança , Imagem de Tensor de Difusão , Humanos , Gêmeos Monozigóticos , Substância Branca/diagnóstico por imagem
17.
Am J Perinatol ; 38(7): 747-752, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33853148

RESUMO

OBJECTIVE: A majority of studies evaluating the risk of vertical transmission and adverse outcomes in pregnancies with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are mostly based on third-trimester infections. There is limited data available on pregnancy sequelae of maternal infection in the first or second trimester. STUDY DESIGN: We present a patient with monochorionic-diamniotic twins that develops coronavirus disease 2019 infection at 15 weeks of gestation. The pregnancy is further complicated by stage II twin-twin transfusion syndrome. She undergoes laser ablation, which is complicated by development of a subchorionic hematoma. The patient then develops Escherichia coli bacteremia, resulting in septic shock and preterm labor followed by previable delivery at 21 weeks of gestation. Amniotic fluid and placenta were negative for SARS-CoV-2 by real-time polymerase chain reaction. CONCLUSION: This case of SARS-CoV-2 argues against transplacental transmission after a second-trimester infection but brings attention to the possible downstream complications that may arise following early infection. KEY POINTS: · Vertical transmission of SARS-CoV-2 is not evident after a second-trimester infection.. · Antepartum coronavirus disease 2019 may cause vascular placental changes and placental insufficiency.. · SARS-CoV-2 is associated with a maternal hypercoagulable state with adverse perinatal outcomes..


Assuntos
COVID-19 , Infecções por Escherichia coli , Transfusão Feto-Fetal , Placenta , Complicações Infecciosas na Gravidez , Segundo Trimestre da Gravidez , Choque Séptico , Adulto , COVID-19/complicações , COVID-19/diagnóstico , COVID-19/fisiopatologia , Infecções por Escherichia coli/complicações , Infecções por Escherichia coli/diagnóstico , Feminino , Transfusão Feto-Fetal/diagnóstico , Transfusão Feto-Fetal/etiologia , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Placenta/diagnóstico por imagem , Placenta/fisiopatologia , Gravidez , Complicações Infecciosas na Gravidez/fisiopatologia , Complicações Infecciosas na Gravidez/virologia , Resultado da Gravidez , Gravidez de Gêmeos , Nascimento Prematuro/etiologia , Nascimento Prematuro/virologia , SARS-CoV-2 , Choque Séptico/diagnóstico , Choque Séptico/etiologia , Gêmeos Monozigóticos , Ultrassonografia Pré-Natal/métodos
18.
Chin Med J (Engl) ; 134(9): 1031-1042, 2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-33813508

RESUMO

ABSTRACT: Type 1 diabetes (T1D) is an autoimmune disease that resulted from the severe destruction of the insulin-producing ß cells in the pancreases of individuals with a genetic predisposition. Genome-wide studies have identified HLA and other risk genes associated with T1D susceptibility in humans. However, evidence obtained from the incomplete concordance of diabetes incidence among monozygotic twins suggests that environmental factors also play critical roles in T1D pathogenesis. Epigenetics is a rapidly growing field that serves as a bridge to link T1D risk genes and environmental exposures, thereby modulating the expression of critical genes relevant to T1D development beyond the changes of DNA sequences. Indeed, there is compelling evidence that epigenetic changes induced by environmental insults are implicated in T1D pathogenesis. Herein, we sought to summarize the recent progress in terms of epigenetic mechanisms in T1D initiation and progression, and discuss their potential as biomarkers and therapeutic targets in the T1D setting.


Assuntos
Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 1/genética , Epigênese Genética/genética , Predisposição Genética para Doença/genética , Humanos , Incidência , Gêmeos Monozigóticos
19.
Medicina (Kaunas) ; 57(5)2021 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-33925456

RESUMO

Background and Objectives: Aortic arch calcification (AoAC) is associated with a variety of cardiovascular complications. The measurement and grading of AoAC using posteroanterior (PA) chest X-rays are well established. The cardiothoracic ratio (CTR) can be simultaneously measured with PA chest X-rays and used as an index of cardiomegaly. The genetic and environmental contributions to the degree of the AoAC and CTR are not well understood. The purpose of this study was to investigate the effect of genetics and environmental factors on the AoAC and CTR. Materials and Methods: A total of 684 twins from the South Korean twin registry (261 monozygotic, MZ and 81 dizygotic, DZ pairs; mean age 38.6 ± 7.9 years, male/female = 264/420) underwent PA chest X-rays. Cardiovascular risk factors and anthropometric data were also collected. The AoAC and CTR were measured and graded using a standardized method. A structural equation method was used to calculate the proportion of variance explained by genetic and environmental factors behind AoAC and CTR. Results: The within-pair differences were low regarding the grade of AoAC, with only a few twin pairs showing large intra-pair differences. We found that the thoracic width showed high heritability (0.67, 95% CI: 0.59-0.73, p = 1). Moderate heritability was detected regarding cardiac width (0.54, 95% CI: 0.45-0.62, p = 0.572) and CTR (0.54, 95% CI: 0.44-0.62, p = 0.701). Conclusions: The heritable component was significant regarding thoracic width, cardiac width, and the CTR.


Assuntos
Aorta Torácica , Gêmeos , Adulto , Antropometria , Aorta Torácica/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
20.
Medicina (Kaunas) ; 57(3)2021 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-33809761

RESUMO

Background and Objectives: The gut microbiota is associated with human health and dietary nutrition. Various studies have been reported in this regard, but it is difficult to clearly analyze human gut microbiota as individual differences are significant. The causes of these individual differences in intestinal microflora are genetic and/or environmental. In this study, we focused on differences between identical twins in Japan to clarify the effects of nutrients consumed on the entire gut microbiome, while excluding genetic differences. Materials and Methods: We selected healthy Japanese monozygotic twins for the study and confirmed their zygosity by matching 15 short tandem repeat loci. Their fecal samples were subjected to 16S rRNA sequencing and bioinformatics analyses to identify and compare the fluctuations in intestinal bacteria. Results: We identified 12 genera sensitive to environmental factors, and found that Lactobacillus was relatively unaffected by environmental factors. Moreover, we identified protein, fat, and some nutrient intake that can affect 12 genera, which have been identified to be more sensitive to environmental factors. Among the 12 genera, Bacteroides had a positive correlation with retinol equivalent intake (rs = 0.38), Lachnospira had a significantly negative correlation with protein, sodium, iron, vitamin D, vitamin B6, and vitamin B12 intake (rs = -0.38, -0.41, -0.39, -0.63, -0.42, -0.49, respectively), Lachnospiraceae ND3007 group had a positive correlation with fat intake (rs = 0.39), and Lachnospiraceae UCG-008 group had a negative correlation with the saturated fatty acid intake (rs = -0.45). Conclusions: Our study is the first to focus on the relationship between human gut microbiota and nutrient intake using samples from Japanese twins to exclude the effects of genetic factors. These findings will broaden our understanding of the more intuitive relationship between nutrient intake and the gut microbiota and can be a useful basis for finding useful biomarkers that contribute to human health.


Assuntos
Microbioma Gastrointestinal , Ingestão de Alimentos , Microbioma Gastrointestinal/genética , Humanos , Japão , RNA Ribossômico 16S/genética , Gêmeos Monozigóticos/genética
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