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Clinical Case Reports Mar 2024To raise awareness about the increasing incidence of superfetation and heterotopic pregnancy in patients with ovarian induction, their insidious symptoms of abdominal...
KEY CLINICAL MESSAGE
To raise awareness about the increasing incidence of superfetation and heterotopic pregnancy in patients with ovarian induction, their insidious symptoms of abdominal pain, anemia, and hemodynamic instability in early pregnancy, and the usefulness of transvaginal ultrasound (TVUS) and quantitative beta human chorionic gonadotrophin (b-hCG) for diagnosis.
ABSTRACT
Superfetation, occurrence of ovulation, fertilization, and implantation during an ongoing pregnancy and heterotopic pregnancy (HP) simultaneous presence of intrauterine and extrauterine pregnancies are infrequent phenomena. We report a case where both coexisted, challenges in diagnosis and management and association with the widespread use of assisted reproductive technologies (ARTs). A 32-year-old woman, who previously underwent ovulation induction therapy, presented with abdominal pain at 8 weeks pregnancy according to her last menstrual period. The patient had high quantitative serum beta-human chorionic gonadotropin (b-hCG) (30,883 mIU/mL). She was vitally stable and not anemic. Transvaginal ultrasound (TVUS) revealed two pregnancies at different gestational ages: an intrauterine pregnancy at 5 weeks and 3 days, and a right intact tubal ectopic pregnancy at 10 weeks and 5 days. Superfetation resulting in HP was then diagnosed. Subsequently, the patient underwent right laparoscopic salpingectomy. The intrauterine pregnancy progressed normally, resulting in delivery of a healthy full-term neonate via Cesarean section at 38 weeks. Superfetation is typically rare from suppression of follicular development and ovulation during pregnancy. Various theories have been proposed to explain its etiology, including polyovulation, delayed blastocyst implantation, and abnormal estrogen and b-hCG surges. In superfetation, an embryo resulting from a previous conception coexists with another embryo, either intrauterine, resulting in diamniotic dizygotic twins with significantly different gestational ages, or extrauterine resulting in HP. Despite being particularly challenging to diagnose because its presenting symptoms can overlap with those of other more common clinical conditions in early pregnancy, HP is increasingly seen with ARTs. In addition, the treatment of HP is versatile, ranging from expectant management to laparoscopic surgery. High level of suspicion for HP and superfetation is crucial in patients who, after ART, present with abdominal pain, hemodynamic instability, or anemia. Additionally, patients planning to undergo subsequent ART cycles should be thoroughly screened with b-hCG and TVUS to exclude an ongoing intrauterine or extrauterine pregnancy.
PubMed: 38505479
DOI: 10.1002/ccr3.8571 -
Translational Psychiatry Mar 2024Flow is a phenomenon where one experiences optimal challenge, marked by an intense, effortless, and rewarding concentration on a task. Past research shows that flow...
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.
Topics: Humans; Cross-Sectional Studies; Prospective Studies; Twins, Dizygotic; Anxiety; Anxiety Disorders; Twins, Monozygotic
PubMed: 38480692
DOI: 10.1038/s41398-024-02855-6 -
JAMA Psychiatry Jun 2024Exposure to adverse childhood experiences (ACEs) has consistently been associated with multiple negative mental health outcomes extending into adulthood. However, given...
IMPORTANCE
Exposure to adverse childhood experiences (ACEs) has consistently been associated with multiple negative mental health outcomes extending into adulthood. However, given that ACEs and psychiatric disorders cluster within families, it remains to be comprehensively assessed to what extent familial confounding contributes to associations between ACEs and clinically confirmed adult psychiatric disorders.
OBJECTIVE
To investigate whether associations between ACEs and adult mental health outcomes remain after adjusting for familial (genetic and environmental) confounding.
DESIGN, SETTING, AND PARTICIPANTS
This Swedish twin cohort study used a discordant twin pair design based on monozygotic (MZ) and dizygotic (DZ) twins. A total of 25 252 adult twins (aged 18-47 years) from the Swedish Twin Registry born between 1959 and 1998 were followed up from age 19 years until 2016, with a maximum follow-up time of 39 years. Data were analyzed from April 2022 to November 2023.
EXPOSURES
A total of 7 ACEs, including family violence, emotional abuse or neglect, physical neglect, physical abuse, sexual abuse, rape, and hate crime, were assessed with items from the Life Stressor Checklist-Revised in a web-based survey.
MAIN OUTCOMES AND MEASURES
Adult (ages >18 years) clinical diagnosis of psychiatric disorders (ie, depressive, anxiety, alcohol or drug misuse, or stress-related disorders) were obtained from the Swedish National Patient Register.
RESULTS
Of 25 252 twins included in the study (15 038 female [59.6%]; mean [SD] age at ACE assessment, 29.9 [8.7] years), 9751 individuals (38.6%) reported exposure to at least 1 ACE. A greater number of ACEs was associated with increased odds of any psychiatric disorder in the full cohort (odds ratio [OR] per additional ACE, 1.52; 95% CI, 1.48-1.57). The association remained but ORs per additional ACE were attenuated in DZ (1.29; 95% CI, 1.14-1.47) and MZ (1.20; 95% CI, 1.02-1.40) twin pairs. Individuals who were exposed to sexual abuse compared with those who were not exposed had increased odds of any clinically confirmed psychiatric disorder in all comparisons: full cohort (OR, 3.09; 95% CI, 2.68-3.56), DZ twin pairs (OR, 2.10; 95% CI, 1.33-3.32), and MZ twin pairs (1.80; 95% CI, 1.04-3.11).
CONCLUSIONS AND RELEVANCE
This study found that associations between ACEs and adult mental health outcomes remained after controlling for shared genetic and environmental factors, which was particularly evident after multiple ACEs or sexual abuse. These findings suggest that targeted interventions may be associated with reduced risks of future psychopathology.
Topics: Humans; Adult; Female; Male; Adverse Childhood Experiences; Sweden; Middle Aged; Young Adult; Adolescent; Mental Disorders; Registries; Cohort Studies; Twins, Monozygotic; Twins, Dizygotic; Mental Health
PubMed: 38446452
DOI: 10.1001/jamapsychiatry.2024.0039 -
Journal of Biological Rhythms Jun 2024The association between circadian rhythms and diseases has been well established, while the association with mental health is less explored. Given the heritable nature...
The association between circadian rhythms and diseases has been well established, while the association with mental health is less explored. Given the heritable nature of circadian rhythms, this study aimed to investigate the relationship between genes underlying circadian rhythms and mental health outcomes, as well as a possible gene-environment correlation for circadian rhythms. Polygenic scores (PGSs) represent the genetic predisposition to develop a certain trait or disease. In a sample from the Netherlands Twin Register ( = 14,021), PGSs were calculated for two circadian rhythm measures: morningness and relative amplitude (RA). The PGSs were used to predict mental health outcomes such as subjective happiness, quality of life, and depressive symptoms. In addition, we performed the same prediction analysis in a within-family design in a subset of dizygotic twins. The PGS for morningness significantly predicted morningness ( = 1.55%) and depressive symptoms ( = 0.22%). The PGS for RA significantly predicted general health ( = 0.12%) and depressive symptoms ( = 0.20%). Item analysis of the depressive symptoms showed that 4 out of 14 items were significantly associated with the PGSs. Overall, the results showed that people with a genetic predisposition of being a morning person or with a high RA are likely to have fewer depressive symptoms. The four associated depressive symptoms described symptoms related to decision-making, energy, and feeling worthless or inferior, rather than sleep. Based on our findings future research should include a substantial role for circadian rhythms in depression research and should further explore the gene-environment correlation in circadian rhythms.
Topics: Humans; Circadian Rhythm; Male; Female; Depression; Adult; Middle Aged; Quality of Life; Multifactorial Inheritance; Netherlands; Twins, Dizygotic; Mental Health; Sleep; Genetic Predisposition to Disease; Aged; Young Adult; Chronotype
PubMed: 38425306
DOI: 10.1177/07487304241230577 -
BMC Pregnancy and Childbirth Feb 2024To date, there are no clinical guidelines for dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane (PV-ROM) before 24 weeks of...
Selective feticide in dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane before 24 weeks may be a safe therapeutic alternative to ongoing pregnancy.
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.
Topics: Female; Pregnancy; Humans; Infant; Pregnancy Outcome; Retrospective Studies; Pregnancy Reduction, Multifetal; Twins, Dizygotic; Abortion, Induced; Fetal Membranes, Premature Rupture; Pregnancy, Twin
PubMed: 38408929
DOI: 10.1186/s12884-024-06361-x -
PloS One 2024Alcohol intent (the susceptibility to initiating alcohol use) and alcohol sips (the initiation of alcohol) in youth are a multifactorial puzzle with many components....
INTRODUCTION
Alcohol intent (the susceptibility to initiating alcohol use) and alcohol sips (the initiation of alcohol) in youth are a multifactorial puzzle with many components. This research aims to examine the connection between genetic and environmental factors across sex, race and ethnicity.
METHODS
Data was obtained from the twin hub of the Adolescent Brain Cognitive Development (ABCD) study at baseline (2016-2018). Variance component models were conducted to dissect the additive genetic (A), common (C) and unique environmental (E) effects on alcohol traits. The proportion of the total alcohol phenotypic variation attributable to additive genetic factors is reported as heritability (h2).
RESULTS
The sample (n = 1,772) included an approximately equal male-female distribution. The 886 same-sex twin pairs were 60.4% dizygotic (DZ), 39.6% monozygotic (MZ), 65.4% non-Hispanic Whites, 13.9% non-Hispanic Blacks, 10.8% of Hispanics with a mean age of 121.2 months. Overall, genetic predisposition was moderate for alcohol intent (h2 = 28%, p = .006) and low for alcohol initiation (h2 = 4%, p = 0.83). Hispanics (h2 = 53%, p < .0001) and Blacks (h2 = 48%, p < .0001) demonstrated higher alcohol intent due to additive genetic factors than Whites (h2 = 34%, p < .0001). Common environmental factors explained more variation in alcohol sips in females (c2 = 63%, p = .001) than in males (c2 = 55%, p = .003). Unique environmental factors largely attributed to alcohol intent, while common environmental factors explained the substantial variation in alcohol initiation.
CONCLUSION
Sex and racial/ethnic disparities in genetic and environmental risk factors for susceptibility to alcohol initiation can lead to significant health disparities. Certain populations may be at greater risk for alcohol use due to their genetic and ecological factors at an early age.
Topics: Adolescent; Child; Female; Humans; Male; Alcohol Drinking; Ethnicity; Twins; Racial Groups
PubMed: 38359015
DOI: 10.1371/journal.pone.0298456 -
Systematic identification of the role of gut microbiota in mental disorders: a TwinsUK cohort study.Scientific Reports Feb 2024Mental disorders are complex disorders influenced by multiple genetic, environmental, and biological factors. Specific microbiota imbalances seem to affect mental health...
Mental disorders are complex disorders influenced by multiple genetic, environmental, and biological factors. Specific microbiota imbalances seem to affect mental health status. However, the mechanisms by which microbiota disturbances impact the presence of depression, stress, anxiety, and eating disorders remain poorly understood. Currently, there are no robust biomarkers identified. We proposed a novel pyramid-layer design to accurately identify microbial/metabolomic signatures underlying mental disorders in the TwinsUK registry. Monozygotic and dizygotic twins discordant for mental disorders were screened, in a pairwise manner, for differentially abundant bacterial genera and circulating metabolites. In addition, multivariate analyses were performed, accounting for individual-level confounders. Our pyramid-layer study design allowed us to overcome the limitations of cross-sectional study designs with significant confounder effects and resulted in an association of the abundance of genus Parabacteroides with the diagnosis of mental disorders. Future research should explore the potential role of Parabacteroides as a mediator of mental health status. Our results indicate the potential role of the microbiome as a modifier in mental disorders that might contribute to the development of novel methodologies to assess personal risk and intervention strategies.
Topics: Humans; Gastrointestinal Microbiome; Cohort Studies; Cross-Sectional Studies; Mental Disorders; Microbiota
PubMed: 38351227
DOI: 10.1038/s41598-024-53929-w -
Investigative Ophthalmology & Visual... Feb 2024Temporal-to-nasal macular ganglion cell layer thickness ratios are reduced in albinism. We explored similar ratios in a large twin cohort to investigate ranges in...
PURPOSE
Temporal-to-nasal macular ganglion cell layer thickness ratios are reduced in albinism. We explored similar ratios in a large twin cohort to investigate ranges in healthy adults, correlations with age, and heritability.
METHODS
More than 1000 twin pairs from TwinsUK underwent macular optical coherence tomography (OCT) scans. Automated segmentation yielded thicknesses for the combined ganglion cell and inner plexiform layer (GCIPL) in Early Treatment of Diabetic Retinopathy Study subfields. Participants with diseases likely to affect these layers or segmentation accuracy were excluded. Inner and outer ratios were defined as the ratio of temporal-to-nasal GCIPL thickness for inner and outer subfields respectively. Corresponding ratios were obtained from a smaller cohort undergoing OCTs with a different device (three-dimensional (3D)-OCT, Topcon, Japan).
RESULTS
Scans from 2300 twins (1150 pairs) were included (mean [SD] age, 53.9 (16.5) years). Mean (SD) inner and outer ratios were 0.89 (0.09) and 0.84 (0.11), correlating negatively with age (coefficients, -0.17 and -0.21, respectively). In males (150 pairs) ratios were higher and did not correlate significantly with age. Intrapair correlation coefficients were higher in monozygotic than dizygotic pairs; age-adjusted heritability estimates were 0.20 and 0.23 for inner and outer ratios, respectively. For the second cohort (n = 166), mean (SD) ratios were 0.93 (0.08) and 0.91 (0.09), significantly greater than for the larger cohort.
CONCLUSIONS
Our study gives reference values for temporal-to-nasal macular GCIPL subfield ratios. Weak negative correlations with age emerged. Genetic factors may contribute to ∼20% to 23% of the variance in healthy individuals. The ratios differ according to the OCT platform used.
Topics: Adult; Male; Humans; Middle Aged; Cross-Sectional Studies; Retina; Neurons; Diabetic Retinopathy; Nerve Fibers; Tomography, Optical Coherence
PubMed: 38349786
DOI: 10.1167/iovs.65.2.26 -
Family Medicine and Community Health Feb 2024This paper proposes the utilisation of twin studies as a novel and powerful methodological approach to investigate critical research questions pertaining to cancer...
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.
Topics: Male; Humans; Semen; Neoplasms; Twins, Monozygotic; Twins, Dizygotic; Primary Health Care
PubMed: 38341219
DOI: 10.1136/fmch-2023-002623