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Materia Socio-medica Sep 2023Twin pregnancies make up 2% to 4% of all births. Incidence of spontaneous twin pregnancies varies around the world, with percentages ranging from 8/1000 to >17/1000...
BACKGROUND
Twin pregnancies make up 2% to 4% of all births. Incidence of spontaneous twin pregnancies varies around the world, with percentages ranging from 8/1000 to >17/1000 births. The variation in twin pregnancy rates is thought to be due to dizygotic pregnancies, since monozygotic pregnancies have a consistent incidence of 3.5/1000 to 4/1000 births. The incidence of twin pregnancies after the widespread use of assisted reproduction has increased significantly.
OBJECTIVE
The purpose of the present study is to investigate factors , who contribute to improve the perinatal outcome in twin pregnancies. Support will be provided by the results of twin pregnancies by the Department of Obstetrics and Gynaecology of Demokrition University of Thrace (Alexandroupolis, Greece) in the last fifteen years.
METHODS
From the above Department, data were collected on the number of twin pregnancies, maternal age, gestational age, mode of delivery (spontaneous delivery or caesarean section), birth weight and rate of twin pregnancies with assisted reproduction.
RESULTS
The results showed the increasing trend of twin pregnancies and births. A total of 304 twin pregnancies were identified (rate 2.75%). The rate of assisted reproduction was 34.83% in our sample, while the rate of cesarean deliveries was 95.5%, showing a large increase in recent years. In ten cases, normal delivery was successfully performed. The gestational age in twin pregnancies that ended with normal delivery was 37.37 + 3 weeks and the fetuses were both cephalic presentations. The main reason for admission of newborns to the NICU Department was prematurity.
CONCLUSION
The constantly improving education of perinatalists and understanding of the pathophysiology may lead to individualization of their treatment, and improvement of their prognosis based on recent scientific data from other international centers.
PubMed: 37795161
DOI: 10.5455/msm.2023.35.215-221 -
European Review For Medical and... Sep 2023Autoimmune diseases (ADs) are common conditions in which an individual's immune system reacts against its healthy cells. This condition is a common cause of morbidity... (Review)
Review
Autoimmune diseases (ADs) are common conditions in which an individual's immune system reacts against its healthy cells. This condition is a common cause of morbidity and mortality, with an estimated prevalence ranging from 5 per 100,000 to more than 500 per 100,000. According to the National Stem Cell Foundation (NSCF), ADs are prevalent in about 4% of the world's population, which creates a burden on society due to the high treatment cost. ADs show a clear gender bias with a higher prevalence among women, occurring at a rate of 2:1 female-to-male ratio. The etiology of ADs includes genetic and environmental factors. ADs are more likely to develop in genetically susceptible individuals. The higher concordance ratio between monozygotic twins compared to dizygotic twins or other siblings validates the role of genetic factors in the pathogenesis of many ADs. ADs diagnosis includes conventional immunoassay such as indirect immunofluorescence, complement fixation, passive agglutination, autoantibodies detection, and most recent advances, including multiplex platforms such as microspots, line-blot, addressable microbeads and barcoded nanoparticles that allow multiplex parallel testing of autoantibodies. ADs treatment includes biological and synthetic drugs that block many pathways and components of the immune system, including Janus kinase (JAK) inhibitors, non-receptor tyrosine-protein kinase (TYK2), and other cytokines. Generally, recent immune-modulatory drugs used in ADs treatment are non-disease specific with broad action and are associated with many side effects like infection and malignant diseases. Furthermore, gene therapy seeks to control the levels of proinflammatory cytokine molecules and lymphocyte infiltration through the delivery and expression of therapeutic genes. Recent genomic-wide association studies (GWAS) have allowed the identification of various genetic loci associated with disease susceptibility and have revealed candidate genes that can be used in targeted therapeutics. This review summarizes recent literature on the genetic factors associated with susceptibility to the 11 most common ADs, namely: Type 1 diabetes mellitus (T1DM), Multiple sclerosis (MS), Grave's disease, Sjögren's syndrome (SS), Celiac disease, Hashimoto's thyroiditis (HT), Anti-phospholipid syndrome (APS), Autoimmune hemolytic anemia, Rheumatoid arthritis (RA), Systemic lupus erythematosus (SLE), and Scleroderma (systemic sclerosis).
Topics: Female; Male; Humans; Genome-Wide Association Study; Sexism; Autoimmune Diseases; Sjogren's Syndrome; Lupus Erythematosus, Systemic; Autoantibodies; Scleroderma, Systemic
PubMed: 37782163
DOI: 10.26355/eurrev_202309_33772 -
Cerebral Cortex (New York, N.Y. : 1991) Nov 2023Similarities between twins have been widely demonstrated, underscoring the remarkable influence of genetics across numerous traits. In this study, we explore the genetic...
Similarities between twins have been widely demonstrated, underscoring the remarkable influence of genetics across numerous traits. In this study, we explore the genetic underpinnings of the human brain by examining MRI data from the Queensland Twin Imaging study. Specifically, this study seeks to compare brain structure and function between twins and unrelated subjects, with an emphasis on describing the effects of genetic factors. To achieve these goals, we employed the source-based morphometry method to extract intrinsic components and elucidate recognizable patterns. Our results show that twins exhibit a higher degree of similarity in gray and white matter density compared with unrelated individuals. In addition, four distinct states of brain activity were identified using coactivation patterns analysis. Furthermore, twins demonstrated a greater degree of similarity in the temporal and spatial features of each state compared with unrelated subjects. Taken together, these results support the hypothesis that twins show greater similarity in both brain structure and dynamic functional brain activity. Further exploration of these methods may advance our understanding of the complex interplay between genes, environment, and brain networks.
Topics: Humans; Magnetic Resonance Imaging; Twins; Brain; White Matter; Head; Twins, Monozygotic; Twins, Dizygotic
PubMed: 37771046
DOI: 10.1093/cercor/bhad345 -
Genes Sep 2023Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently...
Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a multifactorial etiology, including epigenetic gene expression modifications, is considered. The study included six pairs of twins (three pairs of monozygotic twins and three pairs of dizygotic twins) in which one child was born with EA as an isolated defect, while the other twin was healthy. DNA samples were obtained from the blood and esophageal tissue of the child with EA as well as from the blood of the healthy twin. The reduced representation bisulfite sequencing (RRBS) technique was employed for a whole-genome methylation analysis. The analyses focused on comparing the CpG island methylation profiles between patients with EA and their healthy siblings. Hypermethylation in the promoters of 219 genes and hypomethylation in the promoters of 78 genes were observed. A pathway enrichment analysis revealed the statistically significant differences in methylation profile of 10 hypermethylated genes in the Rho GTPase pathway, previously undescribed in the field of EA (, and ).
Topics: Male; Child; Humans; Esophageal Atresia; Twins, Monozygotic; Twins, Dizygotic; CpG Islands; Epigenesis, Genetic; Proto-Oncogene Proteins; Guanine Nucleotide Exchange Factors; Rho Guanine Nucleotide Exchange Factors
PubMed: 37761962
DOI: 10.3390/genes14091822 -
Sleep Medicine Nov 2023Growing evidence suggests concordance between parent and youth sleep. However, no known study has simultaneously examined concordance among siblings' sleep patterns....
STUDY OBJECTIVES
Growing evidence suggests concordance between parent and youth sleep. However, no known study has simultaneously examined concordance among siblings' sleep patterns. This study investigated daily and average concordance in (1) parent-youth and (2) sibling actigraphy-measured sleep, as well as the degree to which sibling concordance varied by sleeping arrangements.
METHODS
516 twin siblings (M = 10.74, 51% female; 30% monozygotic (MZ) twin pairs, 37% same-sex dizygotic pairs (DZ-ss), 33% opposite-sex DZ pairs (DZ-os)) and their primary caregivers (M = 40.59, 95% female) wore wrist-based accelerometers for 7 consecutive nights to measure sleep duration, efficiency, midpoint time, and latency. Primary caregivers also reported on demographics, youth pubertal status, and room-sharing. Two-level multilevel models were estimated to examine daily and average concordance in parent-youth and sibling sleep.
RESULTS
Daily concordance was observed between parent and youth sleep duration and midpoint; average concordance was found for sleep duration, midpoint, and latency. Within sibling dyads, daily and average concordance was evident across all sleep parameters (duration, efficiency, midpoint, latency), with generally stronger concordance patterns for MZ than DZ twin pairs, and for twins who shared a room with their co-twin.
CONCLUSIONS
This is the first known study to document concordance among parent-youth and siblings' actigraphy-measured sleep within the same study (i.e., triad). Our findings can help inform the development of family-level interventions targeting daily and overall sleep hygiene.
Topics: Humans; Adolescent; Female; Child; Adult; Male; Siblings; Actigraphy; Caregivers; Twins, Dizygotic; Sleep; Parent-Child Relations
PubMed: 37757508
DOI: 10.1016/j.sleep.2023.09.014 -
Ultrasound in Obstetrics & Gynecology :... Apr 2024To perform a nationwide study of quadrichorionic quadriamniotic (QCQA) quadruplet pregnancies and to compare the pregnancy outcome in those undergoing fetal reduction...
OBJECTIVES
To perform a nationwide study of quadrichorionic quadriamniotic (QCQA) quadruplet pregnancies and to compare the pregnancy outcome in those undergoing fetal reduction with non-reduced quadruplets and dichorionic diamniotic (DCDA) twin pregnancies from the same time period.
METHODS
This was a retrospective Danish national register-based study performed using data from the national Danish Fetal Medicine Database, which included all QCQA quadruplets and all non-reduced DCDA twin pregnancies with an estimated due date between 2008 and 2018. The primary outcome measure was a composite of adverse pregnancy outcomes, including pregnancy loss or intrauterine death of one or more fetuses. Secondary outcomes included gestational age at delivery, the number of liveborn children, preterm delivery before 28, 32 and 37 gestational weeks and birth weight. Data on pregnancy complications and baseline characteristics were also recorded. Outcomes were compared between reduced and non-reduced quadruplet pregnancies, and between DCDA pregnancies and quadruplet pregnancies reduced to twins. A systematic literature search was performed to describe and compare previous results with our findings.
RESULTS
Included in the study were 33 QCQA quadruplet pregnancies, including three (9.1%) non-reduced pregnancies, 28 (84.8%) that were reduced to twin pregnancy and fewer than three (6.1%) that were reduced to singleton pregnancy, as well as 9563 DCDA twin pregnancies. Overall, the rate of adverse pregnancy outcome was highest in non-reduced quadruplets (66.7%); it was 50% in quadruplets reduced to singletons and 10.7% in quadruplets reduced to twins. The proportion of liveborn infants overall was 91.1% of the total number expected to be liveborn in quadruplet pregnancies reduced to twins. This was statistically significantly different from 97.6% in non-reduced dichorionic twins (P = 0.004), and considerably higher than 58.3% in non-reduced quadruplets. The rates of preterm delivery < 28, < 32 and < 37 weeks were decreased in quadruplets reduced to twins compared with those in non-reduced quadruplet pregnancies. Quadruplets reduced to twins did not achieve equivalent pregnancy outcomes to those of DCDA twins.
CONCLUSION
This national study of QCQA quadruplets has shown that multifetal pregnancy reduction improves pregnancy outcome, including a decreased rate of preterm delivery and higher proportion of liveborn children. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Infant, Newborn; Female; Child; Pregnancy; Humans; Pregnancy Outcome; Pregnancy Reduction, Multifetal; Pregnancy, Quadruplet; Premature Birth; Retrospective Studies; Cohort Studies; Twins, Dizygotic; Pregnancy, Twin; Gestational Age; Denmark
PubMed: 37743648
DOI: 10.1002/uog.27497 -
Acta Ophthalmologica Jun 2024To investigate ocular and systemic factors associated with the retinal arterial wall-to-lumen ratio (WLR) and to determine the relative contribution of genetic and...
PURPOSE
To investigate ocular and systemic factors associated with the retinal arterial wall-to-lumen ratio (WLR) and to determine the relative contribution of genetic and environmental variation to WLR in healthy adults.
METHODS
This cross-sectional twin study included 78 monozygotic and 67 dizygotic same-sex twin pairs aged 58.4 ± 9.8 (mean ± SD) years. Lumen diameter (LD) and outer diameter (OD) of a superotemporal retinal artery were measured using adaptive optics fundus photography, and the WLR was calculated. Linear mixed model regression analysis of associations with WLR comprised the descriptive variables ocular axial length (AL), intraocular pressure (IOP), height, weight, body mass index (BMI), smoking, blood pressure, high density (HDL), low density (LDL) and very low density (VLDL) lipoproteins, total cholesterol and triglycerides. The relative influence of genes and environment on WLR was calculated through polygenetic modelling.
RESULTS
Increasing age and arterial blood pressure were associated with a higher WLR, while increasing retinal artery OD and ocular AL were associated with a lower WLR. Sex, smoking status, BMI, IOP, cholesterol levels or triglycerides had no detectable impact on the WLR. Broad-sense heritability of WLR was 21% (95% CI: 1-41%), while environmental factors accounted for the remaining 79% of the interindividual variance (95% CI: 59-99%).
CONCLUSION
Retinal artery wall thickness was closely linked to increasing age and higher arterial blood pressure, the latter being mediated by the environment over genes.
Topics: Aged; Female; Humans; Male; Middle Aged; Axial Length, Eye; Blood Pressure; Cross-Sectional Studies; Intraocular Pressure; Retinal Artery; Twins, Dizygotic; Twins, Monozygotic
PubMed: 37702272
DOI: 10.1111/aos.15755 -
Scientific Reports Sep 2023Type 1 diabetes (T1D) is characterized by the progressive destruction of pancreatic β-cells, leading to insulin deficiency and lifelong dependency on exogenous insulin....
Type 1 diabetes (T1D) is characterized by the progressive destruction of pancreatic β-cells, leading to insulin deficiency and lifelong dependency on exogenous insulin. Higher estimates of heritability rates in monozygotic twins, followed by dizygotic twins and sib-pairs, indicate the role of genetics in the pathogenesis of T1D. The incidence and prevalence of T1D are alarmingly high in Kuwait. Consanguineous marriages account for 50-70% of all marriages in Kuwait, leading to an excessive burden of recessive allele enrichment and clustering of familial disorders. Thus, genetic studies from this Arab region are expected to lead to the identification of novel gene loci for T1D. In this study, we performed linkage analyses to identify the recurrent genetic variants segregating in high-risk Kuwaiti families with T1D. We studied 18 unrelated Kuwaiti native T1D families using whole exome sequencing data from 86 individuals, of whom 37 were diagnosed with T1D. The study identified three potential loci with a LOD score of ≥ 3, spanning across four candidate genes, namely SLC17A1 (rs1165196:pT269I), SLC17A3 (rs942379: p.S370S), TATDN2 (rs394558:p.V256I), and TMEM131L (rs6848033:p.R190R). Upon examination of missense variants from these genes in the familial T1D dataset, we observed a significantly increased enrichment of the genotype homozygous for the minor allele at SLC17A3 rs56027330_p.G279R accounting for 16.2% in affected children from 6 unrelated Kuwaiti T1D families compared to 1000 genomes Phase 3 data (0.9%). Data from the NephQTL database revealed that the rs1165196, rs942379, rs394558, and rs56027330 SNPs exhibited genotype-based differential expression in either glomerular or tubular tissues. Data from the GTEx database revealed rs942379 and rs394558 as QTL variants altering the expression of TRIM38 and IRAK2 respectively. Global genome-wide association studies indicated that SLC17A1 rs1165196 and other variants from SLC17A3 are associated with uric acid concentrations and gout. Further evidence from the T1D Knowledge portal supported the role of shortlisted variants in T1D pathogenesis and urate metabolism. Our study suggests the involvement of SLC17A1, SLC17A3, TATDN2, and TMEM131L genes in familial T1D in Kuwait. An enrichment selection of genotype homozygous for the minor allele is observed at SLC17A3 rs56027330_p.G279R variant in affected members of Kuwaiti T1D families. Future studies may focus on replicating the findings in a larger T1D cohort and delineate the mechanistic details of the impact of these novel candidate genes on the pathophysiology of T1D.
Topics: Child; Humans; Diabetes Mellitus, Type 1; Kuwait; Exome Sequencing; Genome-Wide Association Study; Insulin; Sodium-Phosphate Cotransporter Proteins, Type I
PubMed: 37696853
DOI: 10.1038/s41598-023-42255-2 -
IScience Sep 2023Functional connectomes (FCs) containing pairwise estimations of functional couplings between pairs of brain regions are commonly represented by correlation matrices. As...
Functional connectomes (FCs) containing pairwise estimations of functional couplings between pairs of brain regions are commonly represented by correlation matrices. As symmetric positive definite matrices, FCs can be transformed via tangent space projections, resulting into tangent-FCs. Tangent-FCs have led to more accurate models predicting brain conditions or aging. Motivated by the fact that tangent-FCs seem to be better biomarkers than FCs, we hypothesized that tangent-FCs have also a higher fingerprint. We explored the effects of six factors: fMRI condition, scan length, parcellation granularity, reference matrix, main-diagonal regularization, and distance metric. Our results showed that identification rates are systematically higher when using tangent-FCs across the "fingerprint gradient" (here including test-retest, monozygotic and dizygotic twins). Highest identification rates were achieved when minimally (0.01) regularizing FCs while performing tangent space projection using Riemann reference matrix and using correlation distance to compare the resulting tangent-FCs. Such configuration was validated in a second dataset (resting-state).
PubMed: 37694156
DOI: 10.1016/j.isci.2023.107624 -
Nordisk Alkohol- & Narkotikatidskrift :... Aug 2023: Heritability of alcohol use disorders (AUDs) varies widely, with reported estimates of 30-78% in twin studies. This variation might be due to methodological...
: Heritability of alcohol use disorders (AUDs) varies widely, with reported estimates of 30-78% in twin studies. This variation might be due to methodological differences (e.g., using different thresholds for AUDs, age differences between samples). : To investigate the heritability of AUDs in a nation-wide sample of male and female twins in late adolescence (18 years). : The study is based on data from 8,330 18-year-old Swedish monozygotic (MZ) and dizygotic (DZ) twins from the Child and Adolescent Twin Study (Sweden). : Univariate sex-limitation twin analyses were performed using (a) total AUDIT score, (b) different AUDIT cut-offs (AUDIT-10: potentially harmful alcohol use and most likely alcohol dependent ; AUDIT-C: potential hazardous alcohol consumption/active alcohol use disorders), and (c) a risk-group classification for alcohol dependence based on AUDIT total score. : Prevalence of potential hazardous alcohol consumption/active alcohol use was 57.1%, and for potentially harmful alcohol use prevalence was 26.5%. Prevalence was higher among females (59.0% and 31.1% respectively) than males (54.4% and 20.0% respectively). Overall, the results of the univariate model fitting indicated that there were qualitative sex differences in the genetic and environmental influences on AUDs, with generally moderate heritability estimates ranging between 0.37 and 0.50. : At odds with previous research, a harmful/hazardous drinking pattern was more common in this age group among females than a low-risk drinking pattern (where males were overrepresented). Heritability estimates were moderate throughout all measures and cut-offs, with equally high contributions from shared and non-shared environment. Sex-limitation models revealed qualitative sex differences for AUDs, suggesting that different genetic and/or environmental factors influence variation in AUDs in males and females.
PubMed: 37663054
DOI: 10.1177/14550725221090383