Dizygotic Twin Infants: Controversial Case Study Series/Twin Research Reviews: Twin and Non-twin ICSI Conceptions; Emory University Twin Study; Labor in Multiple Pregnancy After Previous C-Section Delivery; Cell-Free DNA Fetal Fraction in Twin Pregnancies/News Reports: Twin Survivor of Auschwitz; Twins Trading Places; Identical Twin Foals; Twins Born in Different Decades; Twins Ambulette Service.

This article describes a 1930s case study series involving dizygotic female twin infants. The twins' development was evaluated following periods of intentionally restricted practice and minimal social stimulation. In the opinion of the author of the current article, the study is very unsettling and unacceptable, despite the lack of institutional review boards at that time. This discussion is followed by twin research reviews of recent papers concerning twin and non-twin intracytoplasmic sperm injection conceptions, the Emory University Twin Study of cardiac and brain functions, labor trials in multiple pregnancies after previous C-section delivery and cell-free DNA fetal fraction in twin pregnancies. The article concludes with news items of a twin survivor of Auschwitz, a situation in which twins traded places, the rare birth of identical twin foals, the novel delivery of co-twins in different decades and the Twins Ambulette Service.

Genetic Approaches to Bronchopulmonary Dysplasia.

Bronchopulmonary dysplasia (BPD) remains a common and challenging complication of prematurity, with limited effective strategies at the neonatologist's disposal. Throughout the years, our understanding of this complex syndrome has broadened. Instead of solely attributing this disease to the effects of prematurity and injuries to the lung from mechanical ventilation, it is now accepted to be a multifactorial disease. Recent research efforts have focused on investigating the gene-environment interactions that may influence an infant's susceptibility toward the development of BPD. So far, success has been limited but promising, offering hope that in the future, novel therapies will be available to ameliorate the risk for BPD.

Prediction of drug response and adverse drug reactions: From twin studies to Next Generation Sequencing.

Understanding and predicting inter-individual differences related to the success of drug therapy is of tremendous importance, both during drug development and for clinical applications. Importantly, while seminal twin studies indicate that the majority of inter-individual differences in drug disposition are driven by hereditary factors, common genetic polymorphisms explain only less than half of this genetically encoded variability. Recent progress in Next Generation Sequencing (NGS) technologies has for the first time allowed to comprehensively map the genetic landscape of human pharmacogenes. Importantly, these projects have unveiled vast numbers of rare genetic variants, which are estimated to contribute substantially to the missing heritability of drug metabolism phenotypes. However, functional interpretation of these rare variants remains challenging and constitutes one of the important frontiers of contemporary pharmacogenomics. Furthermore, NGS technologies face challenges in the interrogation of genes residing in complex genomic regions, such as CYP2D6 and HLA genes. We here provide an update of the implementation of pharmacogenomic variations in the clinical setting and present emerging strategies that facilitate the translation of NGS data into clinically useful information. Importantly, we anticipate that these developments will soon result in a paradigm shift of pre-emptive genotyping away from the interrogation to candidate variants and towards the comprehensive profiling of an individuals genotype, thus allowing for a true individualization of patient drug treatment regimens.

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 Twinning After In Vitro Fertilization / News Reports: First Report of Identical Twin Puppies; Twins Sisters Turn 100; Remembering an Identical Twin Production Designer; New York City Marathon Quadruplets.

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. The final section of this article describes twin-related events reported in the news, namely, the first recorded birth of identical twin puppies; the 100th birthday celebration of a pair of fraternal female twins, the passing of an award-winning identical twin production designer, and the first running of the New York City Marathon by a set of quadruplets.

Brazilian Twin Registry: A Bright Future for Twin Studies/Twin Research: Twin Study of Alcohol Consumption and Mortality; Oxygen Uptake in Adolescent Twins/In the News: Superfecundated Twins In Vietnam; Adolescent Twin Relations; Twin and Triplet Co-Workers; A Special Twin Ultrasound; Monozygotic Twins With Different Skin Color; Identical Twin Returns from Space.

The establishment of the Brazilian Twin Registry for the study of genetic, social, and cultural influences on behavior is one of eleven newly funded projects in the Department of Psychology at the University of São Paulo. These 11 interrelated projects form the core of the university's Center for Applied Research on Well-Being and Human Behavior. An overview of the planned twin research and activities to date is presented. Next, two recent twin studies are reviewed, one on the relationship between alcohol consumption and mortality, and the other on factors affecting maximal oxygen uptake. Twins cited in the media include the first identified superfecundated twins in Vietnam, adolescent twin relations, twins and triplets who work together, monozygotic twins with different skin tones and a co-twin control study that addresses the effects of space travel.

Influencias genéticas y ambientales sobre el índice de masa corporal en una población española adolescente gemelar / Genetic and environmental contributions to body mass index in a Spanish adolescent twin sample

Fundamento y objetivo: Los estudios familiares y gemelares han demostrado que los factores genéticos son responsables del 47-90% de la variancia interindividual del índice de masa corporal (IMC). El objetivo de la presente investigación fue evaluar los factores genéticos y ambientales que contribuyen a las diferencias en el IMC, y en función del sexo, en una muestra gemelar de escolares de la Comunidad Valenciana. Material y método: Quinientas ochenta y cuatro parejas de gemelos de 13 a 18 años de edad completaron el estudio: 82 parejas monocigóticas (MC) y 87 dicigóticas (DC) varones, 118 (MC) y 102 (DC) mujeres, y 195 parejas (DC) de sexo opuesto. Para determinar la cigosidad, los profesores rellenaron un cuestionario de similitud física y pesaron y tallaron a los participantes. Se calculó el IMC y se estableció el estado nutricional según la edad. Se llevó a cabo una modelización del IMC que permitió establecer los componentes genéticos y ambientales (comunes y específicos) de su variancia. Resultados: Se observó un 7,1% de sobrepeso y un 2,8% de obesidad. La heredabilidad del IMC se estimó en un 88% en niños y en un 72,1% en niñas. Los factores ambientales específicos explicaron el resto de la variancia del IMC (en niños el 12% y en niñas el 8,8%). Solo en las niñas apareció una contribución de los factores ambientales comunes. Conclusiones: La influencia genética sobre el IMC es intensa durante la adolescencia, con ligeras variaciones en función del sexo, siendo solo las niñas vulnerables a las influencias ambientales comunes (AU)

Background and objective: Twin and family studies support large genetic influences on variability in body mass index (BMI), with heritability estimates ranging from 47% to over 90%. Our objective was to study the relative contributions of genetics and environment to BMI, evaluating sex differences, in an adolescent twin sample from Valencia, Spain. Material and methods: Five hundred eighty-four pairs of adolescent twins between 13 and 18 years of age completed the study (82 monozygotic [MZ] and 87 dizygotic [DZ] pairs of male twins, 118 MZ and 102 DZ pairs of female twins, and 195 opposite-sex pairs of DZ twins). To determine zygosity, teachers responded a questionnaire on physical similarity. They also measured the participant's height and weight. BMI was calculated and weight status was determined according to age. We used twin models to assess genetic and environmental (common and unique) factors affecting BMI. Results: There was a 7.1% frequency of overweight and 2.8% of obesity. The estimated heritability of BMI was 88.0% in boys and 72.1% in girls, with the remaining variance attributable to non-shared environment in boys (12.0%) and 8.8% in girls. It was only in girls that common environment had an effect on BMI. Conclusions: Genetics appears to play an important role in explaining the variability in BMI in the adolescence, with slight variations between boys and girls. Common environmental factors exert their influence on BMI only in girls (AU)

[Advances in research based on twins reared apart].

The design of twins reared apart, very rare genetic epidemiological resources has been hailed as fascinating experiment of nature. However, not so many studies have been based on it due to the difficulty in recruiting the participants. It also makes the only existing research on twins raised apart particularly valuable. How to utilize these resources fully will be the focus of this research area. This review will overview its design background, basic hypothesis, and current status of research and give advice for the research in this field in China.

Stolen twin: fascination and curiosity/twin research reports: evolution of sleep length; dental treatment of craniopagus twins; cryopreserved double embryo transfer; gender options in multiple pregnancy/current events: appendectomy in one twin; autistic twin marathon runners; 3D facial recognition; twin biathletes.

The story of her allegedly stolen twin brother in Armenia is recounted by a 'singleton twin' living in the United States. The behavioral consequences and societal implications of this loss are considered. This case is followed by twin research reports on the evolution of sleep length, dental treatment of craniopagus conjoined twins, cryopreserved double embryo transfer (DET), and gender options in multiple pregnancy. Current events include the diagnosis of appendectomy in one identical twin, the accomplishments of autistic twin marathon runners, the power of three-dimensional (3D) facial recognition, and the goals of twin biathletes heading to the 2014 Sochi Olympics in Russia.

Twin, association and current "omics" studies.

This paper describes the estimation of heritability, the genetic analysis of comorbid traits based on twin designs and on indices based on measured genetic relatedness. Next, approaches to identify genes and to examine the modification of heritability are described. The paper concludes with a discussion on the continued value of twin studies.

Ageing, genes, environment and epigenetics: what twin studies tell us now, and in the future.

Compared with younger people, older people are much more variable in their organ function, and these large individual differences contribute to the complexity of geriatric medicine. What determines this variability? Is it due to the accumulation of different life experiences, or because of the variation in the genes we are born with, or an interaction of both? This paper reviews key findings from ageing twin cohorts probing these questions. Twin studies are the perfect natural experiment to dissect out genes and life experiences. We discuss the paradox that ageing is strongly determined by heritable factors (an influence that often gets stronger with time), yet longevity and lifespan seem not to be so heritable. We then focus on the intriguing question of why DNA sequence-identical twins might age differently. Animal studies are increasingly showing that epigenetic modifications occurring in early development and adulthood, might be key to ageing phenomena but this is difficult to investigate longitudinally in human populations, due to ethical problems of intervention and long lifespan. We propose that identical twin studies using new and existing cohorts may be useful human models in which to investigate the interaction between the environment and genetics, mediated by epigenetic modifications.

The Italian Twin Register: new cohorts and tools, current projects and future perspectives of a developing resource.

Since its start as a database of "possible twins", the Italian Twin Register has developed remarkably in terms of twin approach and recruitment, data-management tools, the cohorts enrolled, and the breadth of information gathered, making the Italian Twin Register a valuable resource for genetic epidemiological research. The Italian Twin Register is a random population of twins at both the national level and within targeted geographical areas or birth cohorts. Further, the Register is linked with disease records and has recently implemented a web-based method for volunteer twin recruitment specifically designed to promote the Register and to disseminate information on genetic epidemiology. To date, approximately 9000 twins have joined the Italian Twin Register, the majority of whom (approximately 70%) represent young adults aged 20 at time of enrollment. Although the total number of twins recruited to date is far below the expected figure initially predicted, the newly established standardized procedures guarantee an increase of around 2000 twins each year. Following the collaboration between the Italian Twin Register and the main Italian nonprofit association for blood donors, twin DNA sampling and storage has recently accelerated contributing to the large amount of phenotypic data collected. The Italian Twin Register is currently involved in both population and clinical based studies on various complex phenotypes and diseases, some conducted within large European consortia.

The Swedish Twin Registry in the third millennium: an update.

The Swedish Twin Registry was first established in the late 1950s. Today it includes more than 170,000 twins--in principle, all twins born in Sweden since 1886. In this article we describe some ongoing and recently completed projects based on the registry. In particular, we describe recent efforts to screen all twins born between 1959 and 1985, and young twin pairs when they turn 9 and 12 years of age. For these studies, we present initial frequencies of common conditions and exposures.

The Australian Twin ADHD Project: current status and future directions.

This article describes the Australian Twin Attention-deficit/hyperactivity disorder (ADHD) Project (ATAP), the results of research conducted using this database and plans for future studies. Information has been actively collected from Australian families with twin children since 1991 for the ATAP database. The value of assessing siblings as well as twins is emphasized. Much work has gone into continuing the involvement of families in the study though this does become more difficult when twins reach maturity. The main focus of the project is ADHD in children and adolescents plus comorbid conditions including conduct disorder, oppositional defiant disorder, and generalized anxiety disorder. A major challenge has been how to retain continuity in the assessments, while at the same time covering changes in psychiatric classification, such as the move to Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American Psychiatric Association, 1994). Changes in the scale can affect the reports of twin similarity. Over the years, these twins have become part of other twin studies and future plans include linking different twin databases to investigate the relationships between childhood behavior and adult conditions. Recruitment, assessment and retention of twin families require a major commitment but create a significant resource for collaboration in areas outside the original aim.

The Danish Twin Registry in the new millennium.

The Danish Twin Registry is the oldest national twin register in the world, initiated in 1954, and, by the end of 2005, contained more than 75,000 twin pairs born in the between 1870 and 2004. The Danish Twin Registry is used as a source for studies on the genetic influence on normal variation in clinical parameters associated with the metabolic syndrome and cardiovascular diseases, clinical studies of specific diseases, and aging and age-related health problems. The combination of survey data, clinical data and linkage to national health-related registers enables follow-up studies of both the general twin population and twins from clinical studies. This paper summarizes the newest extension of the register and gives examples of new developments and phenotypes studied.

The danish twin registry: past and present.

The Danish Twin Registry was established formally in 1954 and thus celebrates its 50th anniversary in 2004. Here we give an account of its founding and the early years, and a brief summary of more recent progress.

Etiology of primary headaches: the importance of genes and environment.

Results from twin studies show that genes play an important role for susceptibility to migraine. The propensity for migraine to run in some families but not in others arises predominantly from alleles shared by family members and not the shared family environment, and that environmental influences on migraine are unique to the affected family member. The main genetic and environmental architecture for the other two major primary headaches, tension-type and cluster, remains to be elucidated. This review focuses on recent advances in twin studies of primary headaches and the future prospects are outlined.