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Human twin studies

Ron J Smith
BACKGROUND: Siege, a process of political domination aimed at isolating an entire population, is a unique threat to health-care provision. The aim of this study was to qualitatively examine the effects of the Israeli siege on the practices and systems that underlie health in the Gaza Strip. METHODS: Data were from participant observation between 2009 and 2017, including 20 interviews with doctors and health administrators in non-governmental organisations (NGO), government, and UN sectors...
February 21, 2018: Lancet
Matthew S Panizzon, Richard L Hauger, Hong Xian, Kristen Jacobson, Michael J Lyons, Carol E Franz, William S Kremen
Animal and human research suggests that testosterone is associated with hippocampal structure and function. Studies examining the association between testosterone and either hippocampal structure or hippocampal-mediated cognitive processes have overwhelmingly focused on the effects of testosterone alone, without considering the interaction of other neuroendocrine factors. The aim of the present study was to examine the interactive effects of testosterone and cortisol in relation to hippocampal volume and episodic memory in a sample of late-middle aged men from the Vietnam Era Twin Study of Aging...
March 9, 2018: Psychoneuroendocrinology
Neeraja Purandare, Mallika Somayajulu, Maik Hüttemann, Lawrence I Grossman, Siddhesh Aras
Coiled-coil-helix-coiled-coil-helix domain-containing 10 (CHCHD10) and CHCHD2 (MNRR1) are homologous proteins with 58% sequence identity and belong to the twin CX9C family of proteins that mediate cellular stress responses. Despite the identification of several neurodegeneration-associated mutations in the CHCHD10 gene, few studies have assessed its physiological role. Here, we investigated CHCHD10's function as a regulator of oxidative phosphorylation in the mitochondria and the nucleus. We show that CHCHD10 co-purifies with cytochrome c oxidase (COX) and up-regulates COX activity by serving as a scaffolding protein required for MNRR1 phosphorylation, mediated by ARG (ABL proto-oncogene 2, non-receptor tyrosine kinase [ABL2])...
March 14, 2018: Journal of Biological Chemistry
Kathrine Vauvert R Hviid, Sara Sofia Malchau, Anja Pinborg, Henriette Svarre Nielsen
BACKGROUND: The incidence of monozygotic twins (MZT) after ART appears to be higher than the incidence after spontaneous conceptions contradicting the aim of ART to avoid multiple pregnancies because of the associated risks. OBJECTIVE AND RATIONALE: The aim was to study the frequency of MZT after IVF and ICSI and how it is influenced by the day of embryo transfer, maternal age, zona pellucida manipulation, controlled ovarian stimulation, stimulation protocol, culture media and embryo quality...
March 12, 2018: Human Reproduction Update
Julia Missitzi, Nickos Geladas, Angelica Misitzi, Leonidas Misitzis, Joseph Classen, Vassilis Klissouras
Heritability studies using the twin model have provided the basis to disentangle genetic and environmental factors that contribute to several complex human traits. However, the relative importance of these factors to individual differences in proprioception is largely unknown, inspite of the fact that proprioceptive senses are of great importance in allowing us to respond to stimuli steming from the space around us and react to altering circumstances. Hence, a total of 44 healthy male twins (11 MZ and 11 DZ pairs), 19-28 yrs old were examined for movement, position and force sense at the elbow joint and their heritability estimates were computed...
March 8, 2018: Journal of Applied Physiology
Rita Schüler, Nicole Seebeck, Martin A Osterhoff, Veronica Witte, Agnes Flöel, Andreas Busjahn, Alexander Jais, Jens C Brüning, Turid Frahnow, Stefan Kabisch, Olga Pivovarova, Silke Hornemann, Michael Kruse, Andreas F H Pfeiffer
OBJECTIVE: Reduction of brain glucose transporter GLUT1 results in severe neurological dysfunction. VEGF is required to restore and maintain brain glucose uptake across the blood brain barrier via GLUT1, which was shown to be acutely diminished in response to a high fat diet (HFD) in mice. The genetic and HFD-related regulation and association of VEGF and GLUT1 (SLC2A1) in humans was investigated in the NUtriGenomic Analysis in Twins (NUGAT) study. METHODS: 92 healthy and non-obese twins were standardized to a high-carbohydrate low-fat diet for 6 weeks before switched to a 6-week HFD under isocaloric conditions...
February 12, 2018: Molecular Metabolism
Namitha Mohandas, Sebastian Bass-Stringer, Jovana Maksimovic, Kylie Crompton, Yuk J Loke, Janet Walstab, Susan M Reid, David J Amor, Dinah Reddihough, Jeffrey M Craig
Background: Cerebral palsy (CP) is a clinical description for a group of motor disorders that are heterogeneous with respect to causes, symptoms and severity. A diagnosis of CP cannot usually be made at birth and in some cases may be delayed until 2-3 years of age. This limits opportunities for early intervention that could otherwise improve long-term outcomes. CP has been recorded in monozygotic twins discordant for the disorder, indicating a potential role of non-genetic factors such as intrauterine infection, hypoxia-ischaemia, haemorrhage and thrombosis...
2018: Clinical Epigenetics
Biqing Chen, Zijian Zhu, Yingying Wang, Xiaohu Ding, Xiaobo Guo, Mingguang He, Wan Fang, Qin Zhou, Shanbi Zhou, Han Lei, Ailong Huang, Tingmei Chen, Dongsheng Ni, Yuping Gu, Jianing Liu, Yi Rao
Social conformity is fundamental to human societies and has been studied for more than six decades, but our understanding of its mechanisms remains limited. Individual differences in conformity have been attributed to social and cultural environmental influences, but not to genes. Here we demonstrate a genetic contribution to conformity after analyzing 1,140 twins and single-nucleotide polymorphism (SNP)-based studies of 2,130 young adults. A two-step genome-wide association study (GWAS) revealed replicable associations in 9 genomic loci, and a meta-analysis of three GWAS with a sample size of ~2,600 further confirmed one locus, corresponding to the NAV3 (Neuron Navigator 3) gene which encodes a protein important for axon outgrowth and guidance...
February 26, 2018: Journal of Human Genetics
Albert Castellheim, Sebastian Lundström, Mattias Molin, Ralf Kuja-Halkola, Carina Gillberg, Christopher Gillberg
BACKGROUND: The role of general anesthetics as a risk factor for possible neurodevelopmental disorders (NDDs) in humans is unresolved. The investigation of the role of anesthetics in the development of postgeneral anesthesia (anesthesia onward) NDDs has proven to be complicated, partly because of the inherent confounding in clinical cohort studies, and partly by the fact that anesthetics are only one part in the complex process of anesthesia-surgery. METHODS: Utilizing the Swedish databases Child and Adolescent Twins Study in Sweden (CATSS) and National Patient Register (NPR), we investigated twins discordant for anesthesia, born between 1997 and 2004 for traits of NDDs...
February 21, 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
Andrew D Grotzinger, Daniel A Briley, Laura E Engelhardt, Frank D Mann, Megan W Patterson, Jennifer L Tackett, Elliot M Tucker-Drob, K Paige Harden
Puberty is a complex biopsychosocial process that can affect an array of psychiatric and medical disorders emerging in adolescence. Although the pubertal process is driven by neuroendocrine changes, few quantitative genetic studies have directly measured puberty-relevant hormones. Hair samples can now be assayed for accumulation of hormones over several months. In contrast to more conventional salivary measures, hair measures are not confounded by diurnal variation or hormonal reactivity. In an ethnically and socioeconomically diverse sample of 1286 child and adolescent twins and multiples from 672 unique families, we estimated genetic and environmental influences on hair concentrations of testosterone, DHEA, and progesterone across the period of 8-18 years of age...
February 12, 2018: Psychoneuroendocrinology
Larissa Barbosa Lopes, Samira Ali Abbas, Elyse Moritz, Juliana Oliveira Martins, Akemi Kuroda Chiba, Dante Mário Langhi, José O Bordin
BACKGROUND: Neonatal alloimmune neutropenia results from maternal alloimmunization to human neutrophil antigens. The alloantibodies involved in neonatal alloimmune neutropenia are against human neutrophil antigens HNA-1a, HNA-1b, HNA-1c, HNA-1d, HNA-2, HNA-3a, HNA-4a, HNA-4b, and HNA-5a; however, to date, antibodies specific to HNA-3b have not been reported. STUDY DESIGN AND METHODS: Blood samples from 10,000 unselected neonates were analyzed, resulting in the selection of 88 neutropenic newborns (neutrophil count <1...
February 16, 2018: Transfusion
Virginia Neyro, Valéry Elie, Yves Médard, Evelyne Jacqz-Aigrain
Growth and maturation changes are mainly responsible for differences in drug pharmacokinetics and pharmacodynamics observed between adults and children, especially neonates. Ontogeny of drug metabolizing enzymes and transporters play an important role in drugs inter-individual pharmacokinetic variability but data are limited in both term and preterm neonates. This study aimed to characterize mRNA expression of the main drug metabolizing enzymes and transport proteins involved in drug disposition, using umbilical cord blood (UCB), according to gender, gestational age and genetic background...
February 13, 2018: Fundamental & Clinical Pharmacology
Daiki Hira, Tomoyuki Okuda, Ayano Mizutani, Nao Tomida, Hirokazu Okamoto
This study is aimed at developing a novel analytical method to identify optimal inhalation flow patterns for commercial dry powder inhalers (DPIs) and pressurized metered dose inhalers (pMDIs). As typical commercial DPI and pMDI, Pulmicort® Turbuhaler® and Sultanol® Inhaler were evaluated by an in-vitro inhalation performance testing system with a flow pattern simulator. An 8-stage Andersen cascade impactor (ACI) or twin stage liquid impinger (TSLI) was applied to determine the inhalation performance. The peak flow rate (PFR) of the inhalation flow pattern was set from 15 to 80 L/min in reference to our previous study...
February 8, 2018: Journal of Pharmaceutical Sciences
Patrick L Kinney
PURPOSE OF REVIEW: I review literature on the impacts of climate change on air quality and human health, with a focus on articles published from 2013 on ozone and airborne particles. Selected previous literature is discussed where relevant in tracing the origins of our current knowledge. RECENT FINDINGS: Climate and weather have strong influences on the spatial and temporal distribution of air pollution concentrations. Emissions of ozone and PM2.5 precursors increase at higher ambient temperatures...
February 7, 2018: Current Environmental Health Reports
Yoshie Kametani, Takashi Shiina, Ryuji Suzuki, Erika Sasaki, Sonoko Habu
The common marmoset (CM; Callithrix jacchus) is a small New World monkey with a high rate of pregnancy and is maintained in closed colonies as an experimental animal species. Although CMs are used for immunological research, such as studies of autoimmune disease and infectious disease, their immunological characteristics are less defined than those of other nonhuman primates. We and others have analyzed antigen recognition-related molecules, the development of hematopoietic stem cells (HSCs), and the molecules involved in the immune response...
February 8, 2018: Experimental Animals
C V Bishop, R L Stouffer, D L Takahashi, E C Mishler, M C Wilcox, O D Slayden, C A True
STUDY QUESTION: What are the impacts of elevated testosterone (T) and an obesogenic western-style diet (WSD), either independently or together, on fertility and metabolic adaptations of pregnancy in primates? SUMMARY ANSWER: Testosterone increases the time to achieve pregnancy, while a WSD reduces overall fertility, and the combination of testosterone and WSD additionally impairs glucose tolerance and causes pregnancy loss. WHAT IS KNOWN ALREADY: Both hyperandrogenemia and obesity are hallmarks of polycystic ovary syndrome, which is a leading cause of infertility among women worldwide...
February 1, 2018: Human Reproduction
Ronit Machtinger, Jia Zhong, Abdallah Mansur, Michal Adir, Catherine Racowsky, Russ Hauser, Kasey Brennan, Oskar Karlsson, Andrea A Baccarelli
Phthalates are endocrine disrupting chemicals (EDCs) that can cross the placenta and affect the fetal epigenome. Among various epigenetic regulators of gene expression, long non-coding RNAs (lncRNAs) are important players that may also be involved in the manifestation of EDC toxicity. We sought to explore the association between maternal urinary phthalate metabolite concentrations and lncRNA expression in human placenta to better understand potential mechanisms through which lncRNAs participate in mediating phthalate toxicity...
January 29, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
Salvatore Mangione, Chayan Chakraborti, Giuseppe Staltari, Rebecca Harrison, Allan R Tunkel, Kevin T Liou, Elizabeth Cerceo, Megan Voeller, Wendy L Bedwell, Keaton Fletcher, Marc J Kahn
BACKGROUND: Literature, music, theater, and visual arts play an uncertain and limited role in medical education. One of the arguments often advanced in favor of teaching the humanities refers to their capacity to foster traits that not only improve practice, but might also reduce physician burnout-an increasing scourge in today's medicine. Yet, research remains limited. OBJECTIVE: To test the hypothesis that medical students with higher exposure to the humanities would report higher levels of positive physician qualities (e...
January 29, 2018: Journal of General Internal Medicine
Carrie E Bearden, David C Glahn
OBJECTIVE: Human cognition has long been known to be under substantial genetic control. With the complete mapping of the human genome, genome-wide association studies for many complex traits have proliferated; however, the highly polygenic nature of intelligence has made the identification of the precise genes that influence both global and specific cognitive abilities more difficult than anticipated. METHOD: Here, we review the latest developments in the genomics of cognition, including a discussion of methodological advances in the genetic analysis of complex traits, and shared genetic contributions to cognitive abilities and neuropsychiatric disorders...
November 2017: Neuropsychology
Lucas Calais-Ferreira, Vinicius C Oliveira, Jeffrey M Craig, Louisa B Flander, John L Hopper, Luci F Teixeira-Salmella, Paulo H Ferreira
BACKGROUND: Musculoskeletal conditions are highly prevalent in our ageing society and are therefore incurring substantial increases in population levels of years lived with disability (YLD). An evidence-based approach to the prognosis, prevention, and treatment of those disorders can allow an overall improvement in the quality of life of patients, while also softening the burden on national health care systems. METHODS: In this Masterclass article, we provide an overview of the most relevant twin study designs, their advantages, limitations and major contributions to the investigation of traits related to the domain of musculoskeletal physical therapy...
December 27, 2017: Brazilian Journal of Physical Therapy
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