Genetics for Ophthalmologists: The Molecular Genetic Basis of Ophthalmic Disorders

 Genetics, Ophthalmology  Comments Off on Genetics for Ophthalmologists: The Molecular Genetic Basis of Ophthalmic Disorders
Jun 202019
 

Over the past decade advances in molecular biology have transformed our understanding of the genetic basis of a broad range of ophthalmic conditions and of the disease processes that underlie them. This work gives a concise summary of the current clinical understanding of genetic ophthalmology and how it may be applied to diagnosis management and counselling of patients with inherited eye diseases. In addition the book gives detailed information of recent advances in genetic eye disease and how disease pathophysiology correlates with this molecular genetic information. It is aimed at general and specialist ophthalmologists, at trainees or all levels as well as at clinical and molecular geneticists interested in the genetics of eye disease.
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Controlled Genetic Manipulations (Neuromethods, v65)

 Genetics  Comments Off on Controlled Genetic Manipulations (Neuromethods, v65)
Jun 122019
 

The current demand for the development of techniques for controlled genetic manipulations is driven by the anatomical and physiological complexity of the brain and by the need for experimental models that can address this complexity through selective manipulation of defined components of the system: specific neuronal populations or selected synapses.  In Controlled Genetic Manipulations, expert researchers present detailed chapters to supply basic technical information about controlled genetic manipulations and to provide examples of creative implementation of this methodology when addressing a unique biological problem. Some chapters of the book describe the most recent developments in the basic methodology, which includes use of Cre-recombinase, methods for delivery of genetic material into the brain and the use of optogenetics, whereas other chapters focus on applying these techniques to addressing particular biological questions like structural and functional mapping of neuronal circuits, analysis of specific synaptic connections, modeling or gene therapy of neurological disorders.  As part of the Neuromethods series, chapters include key implementation advice that is crucial for getting optimal results.   Authoritative and practical, Controlled Genetic Manipulations serves as a valuable guide to a variety of techniques, provided by many of the pioneers of the approaches.
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Labster Virtual Lab Experiments: Genetics of Human Diseases

 Genetics  Comments Off on Labster Virtual Lab Experiments: Genetics of Human Diseases
May 142019
 

This textbook helps you to prepare for your next exams and practical courses by combining theory with virtual lab simulations. The “Labster Virtual Lab Experiments” series gives you a unique opportunity to apply your newly acquired knowledge in a learning game that simulates exciting laboratory experiments. Try out different techniques and work with machines that you otherwise wouldn’t have access to.
In this book, you’ll learn the fundamental concepts of the genetics of human diseases focusing on:
Monogenic Disorders – Cytogenetics – Medical Genetics – Viral Gene Therapy
In each chapter, you’ll be introduced to one virtual lab simulation and a true-to-life challenge. Following a theory section, you’ll be able to play the relevant simulation that includes quiz questions to reinforce your understanding of the covered topics. 3D animations will show you molecular processes not otherwise visible to the human eye.
If you have purchased a printed copy of this book, you get free access to five simulations for the duration of six months. If you’re using the e-book version, you can sign up and buy access to the simulations at www.labster.com/springer.
If you like this book, try out other topics in this series, including “Basic Biology”, “Basic Genetics”, and “Basic Biochemistry”.

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The Primal Connection: Follow Your Genetic Blueprint to Health and Happiness

 Genetics  Comments Off on The Primal Connection: Follow Your Genetic Blueprint to Health and Happiness
Apr 262019
 

Are You Hyperconnected … and Disconnected? The frenetic pace of modern life distracts us from a painful truth: we are disconnected. Disconnected from our DNA recipe, forged through the selection pressure of human evolution, to enjoy health, happiness, and peace of mind. Horns, office chatter, and whirring machines batter our ears with incessant noise. Artificial light and digital stimulation overstress our nervous systems day and night. Traffic jams, long lines, interruptions, distractions, and big egos pervade daily life in such a manner that we don’t even realize the piece–or rather the peace–that’s gone missing.In The Primal Connection, Mark Sisson, the leading voice in the Evolutionary Health movement, and bestselling author of The Primal Blueprint, presents innovative, step-by-step guidelines to reconnect you with the hard-wiring of the human brain, trigger the release of feel-good hormones, and promote optimal gene expression. The Primal Connection is about setting your own daily pace, redefining your core values, and making time for play, for thrilling adventures, for quiet reflection, for friends and family, and for optimal rest and rejuvenation–while still enjoying the comfort and convenience of modern life!Time To Get Primal!*Go barefoot–cures foot and back pain*Play in the dirt–boosts mood and immune function*Wear sunglasses at night–promotes sound sleep*Family before Facebook–strengthens your inner circle*Commune with nature–relieves stress at the biochemical level*Power down when you should–learn to single-task*Cultivate an attitude of gratitude–appreciate simple gifts, roll with punches*Redefine wealth–includes free time, fun, and fitness tooPrimal Connection Q&A With Author Mark SissonQ: How does this book differ from The Primal Blueprint?A: The Primal Blueprint focused on the ten lifestyle laws of our hunter-gatherer ancestors, with particular emphasis on what seem to be the most urgent and obvious life changing elements of the Evolutionary Health movement: eating primal foods (meat, fish, fowl, eggs, vegetables, fruits, nuts and seeds) and exercising in a manner aligned with optimal gene expression (frequent comfortably paced movement coupled with brief, intense strength and sprint workouts). The Primal Connection extends the primal theme to matters of the psyche and the disconnects inherent with high tech modern life and how to fix things.Q: How are the connections categorized?A: There are six sections of the book offering scientific rationale and step-by-step action plans to make assorted connections as follows:*Inner Dialogue: Reject self-doubt and gain mastery over your thoughts and actions. Learn the “ten habits of highly effective hunter-gatherers”: dealing with personal conflict, letting go of the past, reevaluating your definition of affluence, and trusting your gut instincts.*Body: Learn how to safely and gradually transition to a barefoot-dominant lifestyle, including workouts. Learn correct posture and movement mechanics–maybe for the first time ever! Understand the transformative power of touch and how to leverage it in daily life. Learn the importance of frequent, comfortably paced movement, including taking regular breaks from prolonged sedentary periods, and even how to create a standup work environment to enhance concentration, circulation, and fat metabolism. *Nature: Relieve stress at the biochemical level simply by immersing into pleasant natural surroundings. Improve your indoor environment with creative efforts to integrate natural sounds, light, and plant life, and the use of energy-boosting negative ion generators. Garden, play in the mud, or otherwise get dirty (and let your kids do it too!) to turbocharge your immune system and actually strengthen your resistance to infection. *Daily Rhythm: Obtain adequate sun exposure to large skin surface areas to ensure healthy vitamin D levels–one of the most overlooked, and health critical–connections you can make. Optimize sleep by observing mellow, darkened evenings in a quiet, cool, stress-free environment. Engage in solo, silent retreats to recharge your batteries. Prioritize work and entertainment stimulation, and discipline use of technology to remain focused, creative, and productive.*Social: Envision an “inner circle” of close friends or family members, numbering around twelve people or less, to focus the majority of your social time and energy. Nurture a larger social circle or perhaps another two dozen people with whom you can maintain meaningful, reciprocative relationships. Deemphasize attempts to connect superficially with a larger group of people through social media. *Play: Rediscover your innate cravings for daily doses of spontaneous, physical fun! Play helps nurture your creativity and complex problem-solving skills, without results-oriented pressure. The net effect is to increase confidence and enthusiasm for the challenges you face with your core daily responsibilities.Q: What are the overarching themes of The Primal Connection?A: You’ll embrace three critical themes that will help you withstand the destructive forces of modern life. First, your genes expect certain inputs to make you healthy, strong, and happy. If you create a different experience–slamming junk food or blasting artificial light and digital stimulation after dark, you’ll compromise long-term health, period. Your genes don’t know, or care, whether the inputs they receive are health-promoting or health-compromising, they are simply programmed to fight for homeostasis at all times. Drink a soda and your genes respond by prompting the release of insulin to regulate blood sugar levels. In this refrain, the development of type 2 diabetes from prolonged excessive insulin production, and the subsequent resistance of cells to respond to insulin, is not a genetic defect but an example of gene expression at work. Your genes will fight valiantly to moderate the wildly excessive intake of carbohydrates in the Standard American Diet by producing insulin until this genetic mechanism becomes utterly exhausted and a diabetic condition develops. The second theme is that abundance and scarcity are often mismatched with our genetic expectations. For example, our ancestors had abundant leisure time and scarce material possessions. This is something our brains are still wired to expect and appreciate, but the exact opposite often plays out today. Consequently, we feel stressed and anxious about busy schedules and consumerist, “affluenza” mentalities because they in conflict with our hard-wired genetic reference point. As Dr. Art DeVany, PhD expressed, “Modern life leaves our minds restless and under-utilized because we are confined, inactive, and comfortable. We cannot be satisfied with more and more, because we are evolved for another lifeway in which material goods do not matter. The result is that we are deeply unsatisfied with modern life and don’t know why.” Our genes simply don’t know what to make of all our “stuff”, and our lack of physical or cognitive down time to get refreshed and rejuvenated for the challenges of daily life. The third theme is that your deep primal drive to pursue behaviors that generate feelgood hormones–the key to prevailing in the survival of the fittest game–must today be tempered with common sense and evaluation of long-term repercussions. For example, we are hard-wired for a sweet tooth because we experienced an adaptive benefit to avoid poisonous plants (plant life that is sweet is universally safe to consume and rich in calories and antioxidants–survival promoting!) and consume seasonal fruits and tubers that enabled our bodies to store energy for winter months of minimal caloric intake. Yep, our ancestors fattened up for the winter! Today, with massive amounts of sugar at our disposal and few modern citizens wishing to fatten up for the winter months, it makes sense to temper this sweet tooth wiring with sensible caloric intake that is aligned with long-term health. For example, emphasizing seasonal fruit intake but refraining from year-round intake of overly cultivated, overly sweetened fruits. The same is true for the massive amount of digital stimulation we are exposed to daily. We are hardwired to be attuned to novel stimulation in our environment and kick into the fight of flight response at a moment’s notice. Today, the fight or flight response is one of the most egregiously abused genetic mechanisms in the human body. What was once reserved for a predator attack is now accessed every time we fall behind on our quarterly reports or blaze through a stream of text messages on a busy subway ride home after work.Q: What are some examples of actual Primal Connections?Go barefoot: Forget motion control shoes, custom-made orthodics and other modern comforts and supports that weaken your feet, promote inefficient mechanics and promote pain and injury. Transitioning to a barefoot or minimalist shoe lifestyle promotes correct walking, running and standing technique and relieves foot and back pain. The Primal Connection details the right way to do it so you don’t get injured or discouraged.Darken your evenings: Soon after the sun sets, our genes are programmed for an elegant chain of hormonal processes that make us feel sleepy and facilitate a smooth transition from a wakeful state to sound sleep. Unfortunately, today’s artificial light and digital stimulation after dark short-circuit our circadian rhythms, one of the most fundamental and health-critical natural cycles on the planet. Make your evenings as dark and mellow as possible by wearing orange or yellow-tinted sunglasses, switching to orange light bulbs or candlelight around your house, and avoiding digital screen use in the final hours before bedtime. Mellow, darkened evenings will help reconnect you with your circadian rhythm, promoting restorative sleep and high energy mornings. Play around in the dirt: Gardeni…
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ABC of Clinical Genetics

 Genetics  Comments Off on ABC of Clinical Genetics
Apr 252019
 

This ABC is a concise, highly illustrated introduction to genetic mechanisms involved in inherited disorders. The new edition has been extensively updated with new and revised chapters to encompass rapid advances in the field. Basic genetic concepts are explained along with the application of new technologies in clinical practice. Information on relevant web sites are also included along with recommended texts for further reading.
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Clinical and Genetic Aspects of Sudden Cardiac Death in Sports Medicine

 Cardiovascular, Genetics  Comments Off on Clinical and Genetic Aspects of Sudden Cardiac Death in Sports Medicine
Apr 192019
 


Sudden cardiac death is the leading cause of non-traumatic mortality in young (<35 years old) athletes, with recent data suggesting the incidence to be higher than what was previously estimated. The vast majority of deaths are caused by silent hereditary or congenital cardiac disorders.

Over the last decade, advances in our understanding of both the genetic and clinical mechanisms underlying these conditions, particularly those associated with a structurally normal heart, have led to advances in diagnosis and management including interventions and lifestyle modifications that aim to minimize the risk of sudden cardiac death (SDC). Coupled with effective screening programs, other strategies such as emergency response planning and the use of automated external defibrillators have also emerged as strategies in preventing and treating sudden cardiac arrest.

This book aims to provide an overview of the genetic and clinical aspects of SCD in young athletes, with particular emphasis on the specific issues related to diagnosis and management that these unique group of individuals pose to a physician. Specific diagnostic and management dilemmas will be illustrated through clinical cases and the most up-to-date guidelines regarding participation in sport outlined.

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Polyketides. Biosynthesis, Biological Activity, and Genetic Engineering

 Genetics  Comments Off on Polyketides. Biosynthesis, Biological Activity, and Genetic Engineering
Apr 032019
 

Polyketides represent an array of often structurally complex natural products produced by diverse organisms, many of which are pharmacologically valuable. This book provides an excellent overview of the chemistry, genetics, physiology, and enzymology of these compounds. The biosynthesis of polyketides represents a fascinating and dynamic area of investigation, and many new paradigms have recently emerged. The complexity of many of these molecules often renders their production via synthetic chemistry impractical; therefore an understanding of the chemistry and biology of systems producing these compounds will directly impact efforts toward the large scale industrial production of polyketides and polyketide-derivatives. The topics covered in this book range from the cloning and characterization of novel poyketide syntheses, structural and functional analysis of enzyme catalysis, the genetic engineering of new polyketide syntheses enzymes by rational design, and large-scale polyketide production strategies using heterologous systems. Academic and industrial leaders from around the world working in the fields of medicine, microbiology, and plant biology have included some of their latest results for this volume.

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Fetal Cardiology: Embryology, Genetics, Physiology, Echocardiographic Evaluation, Diagnosis, and Perinatal Management

 Cardiovascular, Genetics, Physiology  Comments Off on Fetal Cardiology: Embryology, Genetics, Physiology, Echocardiographic Evaluation, Diagnosis, and Perinatal Management
Feb 262019
 

The third edition of this established reference is the product of the combined efforts of many professionals – obstetricians, pediatric cardiologists, sonographers, molecular biologists, and medical physicists – and is a comprehensive guide intended for anyone interested in scanning the fetal cardiac system.

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Molecular Diagnosis of Genetic Diseases

 Genetics  Comments Off on Molecular Diagnosis of Genetic Diseases
Feb 172019
 

Expert clinical investigators present their best and most reliable methods for the molecular diagnosis of common genetic disorders. The methods-organized by disease or diagnostic area-are robust and reproducible. They contain not only essential day-to-day benchtop wisdom and instruction, but also offer possibilities for introducing new molecular genetic diagnostic tests, as well as invaluable advice on controls, quality standards, and interpretation. Among the genetic diseases discussed are Duchenne/Becker muscular dystrophy, familial adenomatous polyposis, X-chromosome inactivation, Prader-Willi and Angelman syndromes, Huntington’s disease, myotonic dystrophy, fragile X disease, cystic fibrosis, familial hypochloresterolemia, and the hemoglobinopathies.
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Genetic and Molecular Epidemiology of Multiple Myeloma

 Epidemiology, Genetics  Comments Off on Genetic and Molecular Epidemiology of Multiple Myeloma
Feb 152019
 

Multiple myeloma is a plasma cell malignancy characterized by complex heterogenous cytogenetic abnormalities that accounts for 1.4% of all cancers, and approximately 10% of hematologic malignancies. The clinical manifestations of multiple myeloma include lytic bone lesions, cytopenia, hypercalcemia, renal dysfunction, hyperviscosity of the blood, immunodeficiency, and peripheral neuropathy. Based on the clinical and genetic data, probably all cases of multiple myeloma arise from an asymptomatic monoclonal gammopathy of unknown significance. The exact mechanism of the transition from MGUS to overt multiple myeloma is still not well understood. Recent oncogenomic studies have further advanced our understanding of the molecular pathogenesis of multiple myeloma. This book will give a comprehensive overview of the genetic and molecular epidemiology of multiple myeloma in order to get a more refined and conclusive understanding of this disease.
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