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The science of human genetics has advanced at an exponential pace since the double-helix structure of DNA was identified in 1953. Within only 25 years of that discovery, the first gene was sequenced. Subsequent efforts in the span of a few decades have brought advanced next-generation sequencing and new tools for genome editing, allowing scientists to write and rewrite the code of life. We are now realizing that genetics represents yet another system of information technology that follows Moore’s law, stating that computer processing power roughly doubles every two years. Importantly, with such rapid and sophisticated advancements, any tools or studies applicable to adult genetics can now also be applied to embryos.Genetic disorders affect 1% of live births and are responsible for 20% of pediatric hospitalizations and 20% of infant mortality. Many disorders are caused by recessive or X-linked genetic mutations carried by 85% of humans. Because assisted reproduction has armed us with technologies like in vitro fertilization that provide access to human embryos, we began to screen some genetic diseases simply by selecting sex. The first live births following preimplantation genetic testing (PGT) to identify sex in X-linked disease were reported by Alan Handyside in 1990. This groundbreaking work used the identification of male embryos and selective transfer of unaffected normal or carrier females as proof-of-concept to avoid genetic diseases, paving the way to extend the concept to PGT for monogenic diseases (PGT-M), including Mendelian single-gene defects (autosomal dominant/recessive, X-linked dominant/recessive), severe childhood lethality or early-onset disease, cancer predisposition, and HLA typing for histocompatible cord-blood stem cells’ transplantation. Later, we moved onto the identification and selection of euploid embryos by analysing all 23 pairs of chromosomes in 4–8 cells from the trophectoderm, called PGT for aneuploidy (PGT-A). PGT-A currently leverages next-generation sequencing technologies to uncover meiotic- and mitotic-origin aneuploidies affecting whole chromosomes, as well as duplications/deletions of small chromosome regions. A step forward was the use of structural chromosome rearrangements (PGT-SR) to identify Robertsonian and reciprocal translocations, inversions, and balanced vs. unbalanced rearrangements. Another advancement came with PGT for polygenic risk scoring (PGT-P). This technique takes us from learning how to read simple words to starting to understand poetry (i.e., evolving from PGT-M/A/SR to PGT-P for multifactorial, polygenic risk prediction). Moreover, we are moving from embryo selection to intervention because the genetic code is not only readable, but also re-writeable. Indeed, gene editing is now possible using tools like CRISPR/Cas9, which are applicable to all species, including human embryos.

Research & information: general --- extracellular vesicles --- exosomes --- microvesicles --- apoptotic bodies --- DNA --- preimplantation embryos --- murine blastocysts --- embryo --- uterus --- window of implantation --- PGT-A --- PGT-SR --- mosaicism --- embryo genetics --- chromosomal abnormality --- preimplantation genetic testing --- PGT-P --- polygenic risk scoring --- genomic index --- relative risk reduction --- combined preimplantation genetic testing --- Preimplantation genetic testing for monogenic disorders (PGT-M) --- Preimplantation genetic testing for aneuploidy assessment (PGT-A) --- Autosomal dominant polycystic kidney disease (ADPKD) --- male infertility --- advanced maternal age --- aneuploidy --- NGS --- segmental --- translocations --- monogenic disease --- multiplex PCR --- SNP array --- genome editing --- genetic diseases --- embryos --- vitrification --- ovarian response --- female age --- genetic testing --- reproductive health --- next-generation sequencing --- whole exome sequencing --- perinatal care --- infertility --- aneuploidies --- polygenic disease --- blastocyst --- endometrium --- implantation

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The science of human genetics has advanced at an exponential pace since the double-helix structure of DNA was identified in 1953. Within only 25 years of that discovery, the first gene was sequenced. Subsequent efforts in the span of a few decades have brought advanced next-generation sequencing and new tools for genome editing, allowing scientists to write and rewrite the code of life. We are now realizing that genetics represents yet another system of information technology that follows Moore’s law, stating that computer processing power roughly doubles every two years. Importantly, with such rapid and sophisticated advancements, any tools or studies applicable to adult genetics can now also be applied to embryos.Genetic disorders affect 1% of live births and are responsible for 20% of pediatric hospitalizations and 20% of infant mortality. Many disorders are caused by recessive or X-linked genetic mutations carried by 85% of humans. Because assisted reproduction has armed us with technologies like in vitro fertilization that provide access to human embryos, we began to screen some genetic diseases simply by selecting sex. The first live births following preimplantation genetic testing (PGT) to identify sex in X-linked disease were reported by Alan Handyside in 1990. This groundbreaking work used the identification of male embryos and selective transfer of unaffected normal or carrier females as proof-of-concept to avoid genetic diseases, paving the way to extend the concept to PGT for monogenic diseases (PGT-M), including Mendelian single-gene defects (autosomal dominant/recessive, X-linked dominant/recessive), severe childhood lethality or early-onset disease, cancer predisposition, and HLA typing for histocompatible cord-blood stem cells’ transplantation. Later, we moved onto the identification and selection of euploid embryos by analysing all 23 pairs of chromosomes in 4–8 cells from the trophectoderm, called PGT for aneuploidy (PGT-A). PGT-A currently leverages next-generation sequencing technologies to uncover meiotic- and mitotic-origin aneuploidies affecting whole chromosomes, as well as duplications/deletions of small chromosome regions. A step forward was the use of structural chromosome rearrangements (PGT-SR) to identify Robertsonian and reciprocal translocations, inversions, and balanced vs. unbalanced rearrangements. Another advancement came with PGT for polygenic risk scoring (PGT-P). This technique takes us from learning how to read simple words to starting to understand poetry (i.e., evolving from PGT-M/A/SR to PGT-P for multifactorial, polygenic risk prediction). Moreover, we are moving from embryo selection to intervention because the genetic code is not only readable, but also re-writeable. Indeed, gene editing is now possible using tools like CRISPR/Cas9, which are applicable to all species, including human embryos.

extracellular vesicles --- exosomes --- microvesicles --- apoptotic bodies --- DNA --- preimplantation embryos --- murine blastocysts --- embryo --- uterus --- window of implantation --- PGT-A --- PGT-SR --- mosaicism --- embryo genetics --- chromosomal abnormality --- preimplantation genetic testing --- PGT-P --- polygenic risk scoring --- genomic index --- relative risk reduction --- combined preimplantation genetic testing --- Preimplantation genetic testing for monogenic disorders (PGT-M) --- Preimplantation genetic testing for aneuploidy assessment (PGT-A) --- Autosomal dominant polycystic kidney disease (ADPKD) --- male infertility --- advanced maternal age --- aneuploidy --- NGS --- segmental --- translocations --- monogenic disease --- multiplex PCR --- SNP array --- genome editing --- genetic diseases --- embryos --- vitrification --- ovarian response --- female age --- genetic testing --- reproductive health --- next-generation sequencing --- whole exome sequencing --- perinatal care --- infertility --- aneuploidies --- polygenic disease --- blastocyst --- endometrium --- implantation

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Molecular biology --- Human genetics --- Genetic Diseases, Inborn --- Genetic Testing --- Genetics, Medical --- methods --- Medical genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetic aspects --- Genetics, Medical - methods

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"Over the last two decades, spurred particularly by the decoding of the genome, neuroscience has advanced to become the primary basis of clinical psychiatry, even as environmental risk factors for mental disorders have been deemphasized. In this thoroughly revised, second edition of Nature and Nurture in Mental Disorders, the author argues that an overreliance on biology at the expense of environment has been detrimental to the field-that, in fact, the "nature versus nurture" dichotomy is unnecessary. Instead, he posits a biopsychosocial model that acknowledges the role an individual's predisposing genetic factors, interacting with environmental stressors, play in the etiology of many mental disorders. The first several chapters of the book provide an overview of the theories that affect the study of genes, the environment, and their interaction, examining what the empirical evidence has revealed about each of these issues. Subsequent chapters apply the integrated model to a variety of disorders, reviewing the evidence on how genes and environment interact to shape disorders including depressive disorders, PTSD, neurodevelopmental disorders, eating disorders, and personality disorders. By rejecting both biological and psychosocial reductionism in favor of an interactive model, Nature and Nurture in Mental Disorders offers practicing clinicians a path toward a more flexible, effective treatment model. And where controversy or debate still exist, an extensive reference list provided at the end of the book, updated for this edition to reflect the most current literature, encourages further study and exploration"--

Mental Disorders --- Mental disorders --- Genetic Predisposition to Disease --- Stress, Psychological --- Models, Psychological --- genetics --- psychology --- Mental illness --- Stress (Psychology) --- Psychology, Pathological. --- Genetic Predisposition to Disease. --- Stress, Psychological. --- Models, Psychological. --- Genetic aspects. --- genetics. --- psychology. --- Model, Mental --- Model, Psychological --- Models, Mental --- Models, Psychologic --- Psychological Models --- Mental Model --- Mental Models --- Model, Psychologic --- Psychologic Model --- Psychologic Models --- Psychological Model --- Psychological Stress --- Stress, Psychologic --- Stressor, Psychological --- Life Stress --- Life Stresses --- Psychologic Stress --- Psychological Stresses --- Psychological Stressor --- Psychological Stressors --- Stress, Life --- Stresses, Life --- Stresses, Psychological --- Stressors, Psychological --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Abnormal psychology --- Diseases, Mental --- Mental diseases --- Pathological psychology --- Psychology, Abnormal --- Psychopathology --- Neurology --- Brain --- Criminal psychology --- Mental health --- Psychiatry --- Psychoanalysis --- Emotional stress --- Mental stress --- Psychological stress --- Tension (Psychology) --- Psychology --- Diathesis-stress model (Psychology) --- Life change events --- Type A behavior --- Diseases --- Mental Disorders - genetics --- Mental disorders - psychology

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The foundations of sports cardiology include promoting physical activity and providing a safe environment for training and competition for all athletes at all levels, from professional to recreational. To combine these two aims, reliable tools to perform preparticipation screenings are needed. Moreover, those at high risk of potentially life-threatening events should be advised to limit their training load, while others should be reassured that there is no exercise-related cardiovascular risk. We are currently witnessing the advent of new portable devices for remote and mobile heart monitoring and several new and promising biochemical markers, which can support athletes’ diagnostic processes. In this Special Issue of the Diagnostics journal entitled “Diagnostic Challenges in Sports Cardiology”, we present a series of 13 manuscripts, including eight original works, three reviews, and two case reports, which give a glimpse into the current research topics in the area of sports cardiology.

Medicine --- professional ultramarathon runner --- echocardiography --- electrocardiogram --- magnetic resonance imaging --- Cardiac 31P-MR spectroscopy --- blood tests --- running --- exercise --- marathon --- troponin --- risk factor --- AVNRT --- endurance training --- HRM --- triathlon --- exertion cardiac arrhythmia --- Holter ECG --- sudden cardiac arrest --- CPVT --- catecholaminergic polymorphic ventricular tachycardia --- genetic testing --- cardiovascular capacity --- performance --- cross-country skiing amateur --- heart --- vegan --- athletes’ hearts --- runners --- diet --- biomarkers --- amateur --- sports cardiology --- microRNA --- endurance sport --- adaptive changes --- cardiac hypertrophy --- cardiac fibrosis --- asymptomatic preexcitation --- athlete --- WPW --- heart rate --- respiratory rate --- heart rate variability --- reliability --- repeatability --- modern penthatlon --- athletes --- heart rate monitor --- ECG --- portable/wearable monitoring system --- endurance running --- cycling --- long-term assessment --- arrhythmia --- exertion rhythm disorders --- QARDIO MD system --- modern pentathlon --- physiological state --- autonomic nervous system --- caffeine --- anabolic androgenic steroids --- heart disease --- cardiac magnetic resonance imaging --- n/a --- athletes' hearts