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Human twin studies

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https://www.readbyqxmd.com/read/28301762/sex-differences-in-binge-eating-gonadal-hormone-effects-across-development
#1
Kelly L Klump, Kristen M Culbert, Cheryl L Sisk
Eating disorders are highly sexually differentiated disorders that exhibit a female predominance in risk. Most theories focus on psychosocial explanations to the exclusion of biological/genetic influences. The purpose of this descriptive review is to evaluate evidence from animal and human studies in support of gonadal hormone effects on sex differences in binge eating. Although research is in its nascent stages, findings suggest that increased prenatal testosterone exposure in males appears to protect against binge eating...
March 16, 2017: Annual Review of Clinical Psychology
https://www.readbyqxmd.com/read/28296290/game-xp-action-games-as-experimental-paradigms-for-cognitive-science
#2
Wayne D Gray
Why games? How could anyone consider action games an experimental paradigm for Cognitive Science? In 1973, as one of three strategies he proposed for advancing Cognitive Science, Allen Newell exhorted us to "accept a single complex task and do all of it." More specifically, he told us that rather than taking an "experimental psychology as usual approach," we should "focus on a series of experimental and theoretical studies around a single complex task" so as to demonstrate that our theories of human cognition were powerful enough to explain "a genuine slab of human behavior" with the studies fitting into a detailed theoretical picture...
March 13, 2017: Topics in Cognitive Science
https://www.readbyqxmd.com/read/28282074/-epigenetics-2-0-the-multiple-faces-of-the-genome
#3
Marcelo Rubinstein
Epigenetics is the branch of genetics that studies the dynamic relationship between stable genotypes and varying phenotypes. To this end, epigenetics aims to discover the molecular mechanisms that explain how different nutrients and hormones, environmental changes, and emotional, social and cognitive experiences modify gene expression and behaviors, even permanently so. Psychiatry has learned that diseases with strong genetic predisposition, such as schizophrenia, show a concordance of around 50% between monozygotic twins, thus evidencing the importance of the genetic background and the presence of environmental variables that stimulate or block phenotypic development...
September 2016: Vertex: Revista Argentina de Psiquiatriá
https://www.readbyqxmd.com/read/28254163/human-biomonitoring-pilot-study-democophes-in-germany-contribution-to-a-harmonized-european-approach
#4
Gerda Schwedler, Margarete Seiwert, Ulrike Fiddicke, Sissy Ißleb, Jürgen Hölzer, Julia Nendza, Michael Wilhelm, Jürgen Wittsiepe, Holger M Koch, Birgit K Schindler, Thomas Göen, Jörg Hildebrand, Reinhard Joas, Anke Joas, Ludwine Casteleyn, Jürgen Angerer, Argelia Castano, Marta Esteban, Greet Schoeters, Elly Den Hond, Ovnair Sepai, Karen Exley, Louis Bloemen, Lisbeth E Knudsen, Marike Kolossa-Gehring
Human biomonitoring (HBM) is an effective tool to assess human exposure to environmental pollutants, but comparable HBM data in Europe are lacking. In order to expedite harmonization of HBM studies on a European scale, the twin projects COPHES (Consortium to Perform Human Biomonitoring on a European Scale) and DEMOCOPHES (Demonstration of a study to Coordinate and Perform Human Biomonitoring on a European Scale) were formed, comprising 35 partners from 27 European countries. In COPHES a research scheme and guidelines were developed to exemplarily measure in a pilot study mercury in hair, cadmium, cotinine and several phthalate metabolites in urine of 6-11year old children and their mothers in an urban and a rural region...
February 6, 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/28251419/transcriptome-profile-of-the-human-placenta
#5
Marta Majewska, Aleksandra Lipka, Lukasz Paukszto, Jan Pawel Jastrzebski, Kamil Myszczynski, Marek Gowkielewicz, Marcin Jozwik, Mariusz Krzysztof Majewski
The human placenta is a particular organ that inseparably binds the mother and the fetus. The proper development and survival of the conceptus relies on the essential interplay between maternal and fetal factors involved in cooperation within the placenta. In our study, high-throughput sequencing (RNA-seq) was applied to analyze the global transcriptome of the human placenta during uncomplicated pregnancies. The RNA-seq was utilized to identify the global pattern of the gene expression in placentas (N = 4) from women in single and twin pregnancies...
March 1, 2017: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/28249216/three-dimensional-analysis-of-the-uniqueness-of-the-anterior-dentition-in-orthodontically-treated-patients-and-twins
#6
A Franco, G Willems, P H C Souza, O M Tanaka, W Coucke, P Thevissen
Dental uniqueness can be proven if no perfect match in pair-wise morphological comparisons of human dentitions is detected. Establishing these comparisons in a worldwide random population is practically unfeasible due to the need for a large and representative sample size. Sample stratification is an option to reduce sample size. The present study investigated the uniqueness of the human dentition in randomly selected subjects (Group 1), orthodontically treated patients (Group 2), twins (Group 3), and orthodontically treated twins (Group 4) in comparison with a threshold control sample of identical dentitions (Group 5)...
February 26, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28220550/metabolomic-profiling-in-umbilical-venous-plasma-reveals-effects-of-dietary-rumen-protected-arginine-or-n-carbamylglutamate-supplementation-in-nutrient-restricted-hu-sheep-during-pregnancy
#7
L Sun, H Zhang, Y Fan, Y Guo, G Zhang, H Nie, F Wang
Maternal nutrient restriction during pregnancy is a major problem worldwide for human and animal production. Arginine (Arg) is critical to health, growth and reproduction. N-carbamylglutamate (NCG), a key enzyme in arginine synthesis, is not extensively degraded in rumen. The aim of this study was to investigate ameliorating effects of rumen-protected arginine (RP-Arg) and NCG supplementation on dietary in undernourished Hu sheep during gestation. From day 35 to 110 of gestation, 32 Hu ewes carrying twin foetuses were randomly divided into four groups: a control (CG) group (n = 8; fed 100% National Research Council (NRC) requirements for pregnant sheep), a nutrient-restricted (RG) group (n = 8; fed 50% NRC requirements, which included 50% mineral-vitamin mixture) and two treatment (Arg and NCG) groups (n = 8; fed 50% NRC requirements supplemented with 20 g/day RP-Arg or 5 g/day NCG, which included 50% mineral-vitamin mixture)...
February 20, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28214981/neural-mechanism-underling-comprehension-of-narrative-speech-and-its-heritability-study-in-a-large-population
#8
Abbas Babajani-Feremi
Comprehension of narratives constitutes a fundamental part of our everyday life experience. Although the neural mechanism of auditory narrative comprehension has been investigated in some studies, the neural correlates underlying this mechanism and its heritability remain poorly understood. We investigated comprehension of naturalistic speech in a large, healthy adult population (n = 429; 176/253 M/F; 22-36 years of age) consisting of 192 twin pairs (49 monozygotic and 47 dizygotic pairs) and 237 of their siblings...
February 18, 2017: Brain Topography
https://www.readbyqxmd.com/read/28185911/transcriptome-analysis-of-monozygotic-twin-brothers-with-childhood-primary-myelofibrosis
#9
Nan Ding, Zhaojun Zhang, Wenyu Yang, Lan Ren, Yingchi Zhang, Jingliao Zhang, Zhanqi Li, Peihong Zhang, Xiaofan Zhu, Xiaojuan Chen, Xiangdong Fang
Primary myelofibrosis (PMF) is a chronic myeloproliferative disorder in human bone marrow. Over 50% of patients with myelofibrosis have mutations in JAK2, MPL, or CALR. However, these mutations are rarely detected in children, suggesting a difference in the pathogenesis of childhood PMF. In this study, we investigated the response to drug treatment of a monozygotic twin pair with typical childhood PMF. The twin exhibited different clinical outcomes despite following the same treatment regimen. The transcriptomic profiles of patient samples after drug treatment (E2 and Y2) were significantly different between the twin pair, which is consistent with the observation that the drug treatment was effective only in the younger brother, despite the twin being genetically identical...
February 2017: Genomics, Proteomics & Bioinformatics
https://www.readbyqxmd.com/read/28177150/commentary-the-skeleton-is-a-storehouse-of-mineral-that-is-plundered-during-lactation-and-fully-replenished-afterwards
#10
Christopher S Kovacs
During lactation, mammals resorb mineral from the maternal skeleton to provide calcium to milk. Rodents lose 25-35% of skeletal ash weight, ash calcium content, and bone mineral content by DXA, and have compromised material properties of bone, as assessed by crushing vertebrae and 3-pt bend tests of femora or tibiae. The strength, stiffness, and toughness of vertebrae, femora, and tibiae are reduced by as much as 60%. The effects of lactation are not uniform throughout the skeleton, but instead resorption is much more marked in the trabecular-rich spine than in the appendicular skeleton or whole body...
February 8, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28166906/the-morphology-of-the-enamel-dentine-junction-in-neanderthal-molars-gross-morphology-non-metric-traits-and-temporal-trends
#11
Robert M G Martin, Jean-Jacques Hublin, Philipp Gunz, Matthew M Skinner
This study explores the morphological differences between the enamel-dentine junction (EDJ) of maxillary and mandibular molars of Neanderthals (n = 150) and recent modern humans (n = 106), and between an earlier Neanderthal sample (consisting of Pre-Eemian and Eemian Neanderthals dating to before 115 ka) and a later Neanderthal sample (consisting of Post-Eemian Neanderthals dating to after 115 ka). The EDJ was visualised by segmenting microtomographic scans of each molar. A geometric morphometric methodology compared the positioning of the dentine horns, the shape of the marginal ridge between the dentine horns, and the shape of the cervix...
February 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28139950/can-early-%C3%AE-human-chorionic-gonadotropin-predict-birth-of-singletons-and-twins-after-in-vitro-fertilization
#12
Ana Póvoa, Milton Severo, Pedro Xavier, Alexandra Matias, Isaac Blickstein
OBJECTIVE: To assess the predictive value for clinical pregnancy outcome of β-hCG level at 13 d after embryo transfer. METHODS: Retrospective study of IVF clinical pregnancies diagnosed at 6 weeks. We calculated the value of β-hCG level at 13 d after embryo transfer to predict live births. RESULTS: We analyzed 177 IVF cycles between 2009 and 2014 (50 singleton births, 50 twin births, 27 sets with a vanishing twin, 43 first trimester singleton pregnancy loss and seven first trimester total twin pregnancy loss)...
February 21, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28132423/xenopus-an-ideal-model-organism-to-study-laterality-in-conjoined-twins
#13
REVIEW
Matthias Tisler, Axel Schweickert, Martin Blum
Conjoined twins occur at low frequency in all vertebrates including humans. Many twins fused at the chest or abdomen display a very peculiar laterality defect: while the left twin is normal with respect to asymmetric organ morphogenesis and placement (situs solitus), the organ situs is randomized in right twins. Although this phenomenon has fascinated already some of the founders of experimental embryology in the 19th and early 20th century, such as Dareste, Fol, Warynsky and Spemann, its embryological basis has remained enigmatic...
January 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28131012/uniqueness-of-the-anterior-dentition-three-dimensionally-assessed-for-forensic-bitemark-analysis
#14
A Franco, G Willems, Phc Souza, W Coucke, P Thevissen
The uniqueness of the human dentition (UHD) is an important concept in the comparative process in bitemark analysis. During this analysis, the incisal edges of the suspects' teeth are matched with the bitemarks collected from the victim's body or crime scenes. Despite playing an essential part to exclude suspects, the UHD contained in the involved incisal tooth edges remains an assumption on bitemark level. The present study was aimed, first, to investigate three-dimensionally (3D) the UHD within different quantities of dental material from the incisal edges; second, to test these outcomes in a bidimensional (2D) simulation...
February 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/28115509/the-tat-substrate-sufi-is-critical-for-the-ability-of-yersinia-pseudotuberculosis-to-cause-systemic-infection
#15
Ummehan Avican, Tugrul Doruk, Yngve Östberg, Anna Fahlgren, Åke Forsberg
The Twin-arginine translocation (Tat) system targets folded proteins across the inner membrane and it is crucial for virulence in many important human pathogenic bacteria. Tat has been shown to be required for virulence of Yersinia pseudotuberculosis and we recently showed that the system is critical for different virulence related stress responses as well as for iron uptake. In this study, we wanted to address the role of the Tat substrates in in vivo virulence. Therefore, 22 genes encoding potential Tat substrates were mutated and each mutant was evaluated in competitive oral infection of mice...
January 23, 2017: Infection and Immunity
https://www.readbyqxmd.com/read/28105968/situs-inversus-totalis-in-twins-a-brief-review-and-a-life-history-twin-research-twin-studies-of-trisomy-21-monozygotic-twin-concordance-for-bilateral-coronoid-hyperplasia-prenatal-hormonal-effects-in-mixed-sex-non-human-primate-litters-insurance-mandates-and
#16
Nancy L Segal
The presence of situs inversus totalis (full reversal of internal organs) in twins is briefly reviewed. Information gathered from 35-year-old monozygotic (MZ) female twin pair discordant for this condition is presented. This is followed by summaries of research on the frequency of trisomy 21 (Down syndrome) in twins, the first case of MZ twin concordance for bilateral coronoid hyperplasia, prenatal hormonal effects in mixed-sex non-human primate litters, and links between insurance mandates and twinning following in vitro fertilization...
February 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28103232/a-model-of-compound-heterozygous-loss-of-function-alleles-is-broadly-consistent-with-observations-from-complex-disease-gwas-datasets
#17
Jaleal S Sanjak, Anthony D Long, Kevin R Thornton
The genetic component of complex disease risk in humans remains largely unexplained. A corollary is that the allelic spectrum of genetic variants contributing to complex disease risk is unknown. Theoretical models that relate population genetic processes to the maintenance of genetic variation for quantitative traits may suggest profitable avenues for future experimental design. Here we use forward simulation to model a genomic region evolving under a balance between recurrent deleterious mutation and Gaussian stabilizing selection...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28100283/genetic-influences-on-hormonal-markers-of-chronic-hypothalamic-pituitary-adrenal-function-in-human-hair
#18
E M Tucker-Drob, A D Grotzinger, D A Briley, L E Engelhardt, F D Mann, M Patterson, C Kirschbaum, E K Adam, J A Church, J L Tackett, K P Harden
BACKGROUND: Cortisol is the primary output of the hypothalamic-pituitary-adrenal (HPA) axis and is central to the biological stress response, with wide-ranging effects on psychiatric health. Despite well-studied biological pathways of glucocorticoid function, little attention has been paid to the role of genetic variation. Conventional salivary, urinary and serum measures are strongly influenced by diurnal variation and transient reactivity. Recently developed technology can be used to measure cortisol accumulation over several months in hair, thus indexing chronic HPA function...
January 19, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28095889/evolution-of-gut-microbiota-composition-from-birth-to-24-weeks-in-the-infantmet-cohort
#19
Cian J Hill, Denise B Lynch, Kiera Murphy, Marynka Ulaszewska, Ian B Jeffery, Carol Anne O'Shea, Claire Watkins, Eugene Dempsey, Fulvio Mattivi, Kieran Touhy, R Paul Ross, C Anthony Ryan, Paul W O' Toole, Catherine Stanton
BACKGROUND: The gut is the most extensively studied niche of the human microbiome. The aim of this study was to characterise the initial gut microbiota development of a cohort of breastfed infants (n = 192) from 1 to 24 weeks of age. METHODS: V4-V5 region 16S rRNA amplicon Illumina sequencing and, in parallel, bacteriological culture. The metabolomic profile of infant urine at 4 weeks of age was also examined by LC-MS. RESULTS: Full-term (FT), spontaneous vaginally delivered (SVD) infants' microbiota remained stable at both phylum and genus levels during the 24-week period examined...
January 17, 2017: Microbiome
https://www.readbyqxmd.com/read/28056983/influence-of-endometrial-thickness-on-treatment-outcomes-following-in-vitro-fertilization-intracytoplasmic-sperm-injection
#20
Ning-Zhao Ma, Lei Chen, Wei Dai, Zhi-Qin Bu, Lin-Li Hu, Ying-Pu Sun
BACKGROUND: The study was designed to investigate the roles of endometrial thickness (EMT) at the day of human chorionic gonadotropin (hCG) administration on pregnancy outcomes in a large patient population. METHODS: This retrospective cohort study included 9,952 patients undergoing their first IVF/ICSI with autologous oocytes from January 2011 to January 2015. Patients were divided into three groups based on the EMT (group A:≤8 mm; group B: 9-14 mm and group C:≥15 mm)...
January 5, 2017: Reproductive Biology and Endocrinology: RB&E
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