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Genes & Diseases May 2024
PubMed: 38274377
DOI: 10.1016/j.gendis.2023.05.001 -
Genome Biology Jan 2024Various laboratory-developed metabolomic methods lead to big challenges in inter-laboratory comparability and effective integration of diverse datasets.
BACKGROUND
Various laboratory-developed metabolomic methods lead to big challenges in inter-laboratory comparability and effective integration of diverse datasets.
RESULTS
As part of the Quartet Project, we establish a publicly available suite of four metabolite reference materials derived from B lymphoblastoid cell lines from a family of parents and monozygotic twin daughters. We generate comprehensive LC-MS-based metabolomic data from the Quartet reference materials using targeted and untargeted strategies in different laboratories. The Quartet multi-sample-based signal-to-noise ratio enables objective assessment of the reliability of intra-batch and cross-batch metabolomics profiling in detecting intrinsic biological differences among the four groups of samples. Significant variations in the reliability of the metabolomics profiling are identified across laboratories. Importantly, ratio-based metabolomics profiling, by scaling the absolute values of a study sample relative to those of a common reference sample, enables cross-laboratory quantitative data integration. Thus, we construct the ratio-based high-confidence reference datasets between two reference samples, providing "ground truth" for inter-laboratory accuracy assessment, which enables objective evaluation of quantitative metabolomics profiling using various instruments and protocols.
CONCLUSIONS
Our study provides the community with rich resources and best practices for inter-laboratory proficiency tests and data integration, ensuring reliability of large-scale and longitudinal metabolomic studies.
Topics: Humans; Reproducibility of Results; Cell Line; Liquid Chromatography-Mass Spectrometry; Metabolomics; Twins, Monozygotic
PubMed: 38268000
DOI: 10.1186/s13059-024-03168-z -
Alzheimer's Research & Therapy Jan 2024Plant-based diets may provide protection against cognitive decline and Alzheimer's disease, but observational data have not been consistent. Previous studies include...
BACKGROUND
Plant-based diets may provide protection against cognitive decline and Alzheimer's disease, but observational data have not been consistent. Previous studies include early life confounding from socioeconomic conditions and genetics that are known to influence both cognitive performance and diet behaviour. This study investigated associations between Mediterranean (MED) diet and MIND diets and cognitive performance accounting for shared genotype and early-life environmental exposures in female twins.
METHODS
Diet scores were examined in 509 female twins enrolled in TwinsUK study. The Cambridge Neuropsychological Test Automated Battery was used to assess cognition at baseline and 10 years later (in n = 275). A co-twin case-control study for discordant monozygotic (MZ) twins examined effects of diet on cognitive performance independent of genetic factors. Differences in relative abundance of taxa at 10-year follow-up were explored in subsamples.
RESULTS
Each 1-point increase in MIND or MED diet score was associated with 1.75 (95% CI: - 2.96, - 0.54, p = 0.005 and q = 0.11) and 1.67 (95% CI: - 2.71, - 0.65, p = 0.002 and q = 0.02) fewer respective errors in paired-associates learning. Within each MZ pair, the twin with the high diet score had better preservation in spatial span especially for MED diet (p = 0.02). There were no differences between diet scores and 10-year change in the other cognitive tests. MIND diet adherence was associated with higher relative abundance of Ruminococcaceae UCG-010 (0.30% (95% CI 0.17, 0.62), q = 0.05) which was also associated with less decline in global cognition over 10 years (0.22 (95% CI 0.06, 0.39), p = 0.01).
CONCLUSIONS
MIND or MED diets could help to preserve some cognitive abilities in midlife, particularly episodic and visuospatial working memory. Effects may be mediated by high dietary fibre content and increased abundance of short-chain fatty acid producing gut bacteria. Longer follow-up with repeated measures of cognition will determine whether diet can influence changes in cognition occurring in older age.
Topics: Humans; Case-Control Studies; Cognition; Cognitive Dysfunction; Dietary Patterns; United Kingdom
PubMed: 38263271
DOI: 10.1186/s13195-024-01387-x -
International Journal of Legal Medicine May 2024The possibility of using epigenetics in forensic investigation has gradually risen over the last few years. Epigenetic changes with their dynamic nature can either be... (Review)
Review
The possibility of using epigenetics in forensic investigation has gradually risen over the last few years. Epigenetic changes with their dynamic nature can either be inherited or accumulated throughout a lifetime and be reversible, prompting investigation of their use across various fields. In forensic sciences, multiple applications have been proposed, such as the discrimination of monozygotic twins, identifying the source of a biological trace left at a crime scene, age prediction, determination of body fluids and tissues, human behavior association, wound healing progression, and determination of the post-mortem interval (PMI). Despite all these applications, not all the studies considered the impact of PMI and post-sampling effects on the epigenetic modifications and the tissue-specificity of the epigenetic marks.This review aims to highlight the substantial forensic significance that epigenetics could support in various forensic investigations. First, basic concepts in epigenetics, describing the main epigenetic modifications and their functions, in particular, DNA methylation, histone modifications, and non-coding RNA, with a particular focus on forensic applications, were covered. For each epigenetic marker, post-mortem stability and tissue-specificity, factors that should be carefully considered in the study of epigenetic biomarkers in the forensic context, have been discussed. The advantages and limitations of using post-mortem tissues have been also addressed, proposing directions for these innovative strategies to analyze forensic specimens.
Topics: Humans; DNA Methylation; Epigenesis, Genetic; Body Fluids; Biomarkers; Autopsy; Forensic Medicine
PubMed: 38242965
DOI: 10.1007/s00414-024-03165-8 -
Frontiers in Nutrition 2023Monochorionic, diamniotic (MCDA) monozygotic twins share nearly all genetic variation and a common placenta . Despite this, MCDA twins are often discordant for a range...
INTRODUCTION
Monochorionic, diamniotic (MCDA) monozygotic twins share nearly all genetic variation and a common placenta . Despite this, MCDA twins are often discordant for a range of common phenotypes, including early growth and birth weight. As such, MCDA twins represent a unique model to explore variation in early growth attributable primarily to environmental factors.
METHODS
MCDA twins with a range of within-pair birth weight discordance were sampled from the peri/postnatal epigenetic twin study (PETS, Melbourne; = 26 pairs), Beijing twin study (BTS, Beijing; = 25), and the Chongqing longitudinal twin study (LoTiS, Chongqing; = 22). All PETS participants were of European-Australian ancestry, while all Chinese participants had Han ancestry. The average of the birth weight difference between the larger and smaller co-twins for all twin pairs was determined and metabolomic profiles of amino acids, TCA cycle intermediates, fatty acids, organic acids, and their derivatives generated from cord blood plasma by gas chromatograph mass spectrometry. Within and between co-twin pair analyses were performed to identify metabolites specifically associated with discordance in birth weight. Multivariable regression and pathway enrichment analyses between different regions were performed to evaluate the geographical effects on the metabolism of MCDA twin pairs.
RESULTS
PETS twins showed a markedly different metabolic profile at birth compared to the two Chinese samples. Within-pair analysis revealed an association of glutathione, creatinine, and levulinic acid with birth weight discordance. Caffeine, phenylalanine, and several saturated fatty acid levels were uniquely elevated in PETS twins and were associated with maternal BMI and average within pair birth weight, in addition to birth weight discordance. LoTiS twins had higher levels of glutathione, tyrosine, and gamma-linolenic acid relative to PETS and BTS twins, potentially associated with eating habits.
CONCLUSION
This study highlights the potential role of underlying genetic variation (shared by MZ twins) (non-shared by MZ twins) and location-specific (shared by MZ twins) environmental factors, in regulating the cord blood metabolome of uncomplicated MCDA twins. Future research is needed to unravel these complex relationships that may play a key role in phenotypic metabolic alterations of twins independent of genetic diversity.
PubMed: 38239842
DOI: 10.3389/fnut.2023.1259777 -
Cureus Dec 2023A conjoined twin is an uncommon congenital condition that has a very high morbidity and mortality prevalence. Identical twins united in utero are known as conjoined...
A conjoined twin is an uncommon congenital condition that has a very high morbidity and mortality prevalence. Identical twins united in utero are known as conjoined twins. It's an uncommon occurrence that poses a special difficulty for paediatric surgeons and obstetricians. Conjoined twins are a complicated by-product of monozygotic twinning, which raises the risk of death in the womb. One of the more prevalent varieties of conjoined twins is the thoraco-omphalopagus type, in which the heart is involved in an anterior, chest-based fusion. This case involves a 26-year-old woman who was diagnosed at 19 weeks with conjoined thoraco-omphalopagus twins using ultrasonography.
PubMed: 38222177
DOI: 10.7759/cureus.50444 -
International Orthodontics Mar 2024This study aimed to discover the genetic and environmental factors that contribute to the mandibular development of untreated monozygotic and dizygotic twins.
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.
Topics: Adolescent; Female; Humans; Male; Environment; Mandible; Retrospective Studies; Twins, Dizygotic; Twins, Monozygotic; Cohort Studies
PubMed: 38217936
DOI: 10.1016/j.ortho.2023.100842 -
Zeitschrift Fur Gastroenterologie Jan 2024Hepatocellular carcinoma (HCC) is, to date, the most common malignant tumor of the liver and is commonly staged with the Milan criteria. While deceased-donor liver...
Hepatocellular carcinoma (HCC) is, to date, the most common malignant tumor of the liver and is commonly staged with the Milan criteria. While deceased-donor liver transplantations (DDLT) are reserved for patients within the Milan criteria, living-donor liver transplantation (LDLT) might be a curative option for patients outside the Milan criteria. We here report a case of a 32-year-old woman who developed a giant, unresectable HCC out of a hepatocellular adenoma (HCA) after a pregnancy. The genetically identical twin sister donated her left hemi-liver after ethical approval and preoperative screening. No long-term immunosuppressive therapy was necessary, and after more than eight years, both are in perfect health and the recipient gave birth to a second child. This case shows that in certain situations large HCCs outside the standard criteria can be cured by LT. Careful evaluation of both donor and recipient should be performed for indications like this to assure optimal clinical outcome.
Topics: Adult; Female; Humans; Carcinoma, Hepatocellular; Liver Neoplasms; Liver Transplantation; Living Donors; Twins, Monozygotic
PubMed: 38195109
DOI: 10.1055/a-2214-1712 -
Preventive Medicine Reports Jan 2024Exposure to stressful life events is common, and it is linked to increased psychological issues. As most likely people respond to stressors depending on environmental...
Exposure to stressful life events is common, and it is linked to increased psychological issues. As most likely people respond to stressors depending on environmental and genetic factors, we assessed in a twin study the association of some personal characteristics such as resilience and self-perception with anxiety, depression and stress in the late Covid pandemic period, to verify the underlying genetic and shared familial components. With this design, the strength of the associations was compared between individual-level and intrapair-level analyses. From June 2020 to December 2021, the Italian Twin Registry conducted a three-wave longitudinal study among adult twins using validated questionnaires, and 1,763 adult twins participated in the study (mean age 46 years, 67 % females, 70 % monozygotic). A regression-based within-pair differences model was applied to control for genetic and shared environmental confounding. Results showed that anxiety was linked negatively with resilience, social support and perceived health, and positively with risk perception and hypochondria. Depression was associated negatively with resilience, social support and perceived health, and positively with financial concern and hypochondria. Stress was associated negatively with resilience and perceived health, and positively with financial concern, risk perception and hypochondria. These results suggest potential etiological effects of the above-mentioned risk factors. While our findings need to be confirmed by longitudinal studies, they propose potential etiological models for mental disorders, indicating that addressing in the clinical practice factors such as self-perception, personality traits (resilience), environmental resources (social support), and comorbid disorders (hypochondria) could have therapeutic benefits while treating certain common mental disorders.
PubMed: 38192297
DOI: 10.1016/j.pmedr.2023.102559 -
Journal of Medical Cases Dec 2023Fetus-in-fetu (FIF) is a rare, congenital anomaly involving the presence of one of a pair of twins within the body of the other. It is postulated that this pathology...
Fetus-in-fetu (FIF) is a rare, congenital anomaly involving the presence of one of a pair of twins within the body of the other. It is postulated that this pathology occurs during embryogenesis of a diamniotic-monochorionic twin pregnancy with unequal division of the blastocele, which results in monozygotic, monochorionic, and diamniotic twins of unequal sizes. Presentation as an abdominal mass during the neonatal period or infancy is most common, although late diagnosis during the adult years may also occur. We report a 1-day-old, full-term female neonate who presented for exploratory laparotomy and excision of a FIF. We present the use of a combined general-regional technique using caudal epidural anesthesia. The etiology, presentation, appropriate workup, and treatment of FIF are presented. Previous anecdotal reports of anesthetic care for excision of FIF are reviewed.
PubMed: 38186560
DOI: 10.14740/jmc4164