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Med-books.by - Библиотека медицинской литературы » Генетика

Apoptotic and Non-apoptotic Cell Death - Nagata S., Nakano H. - 2017 год



Apoptotic and Non-apoptotic Cell Death - Nagata S., Nakano H. - 2017 год

This volume focuses on apoptotic and non-apoptotic programmed cell death, including necroptosis, pyroptosis, and ferroptosis, and presents recent findings in the field. It discusses the crucial role that apoptotic and non-apoptotic cell death play in various pathological conditions, such as skin diseases, inflammatory bowel diseases, and virus infections. Further, it highlights the mechanisms underlying the recognition and clearance of dead cells, and the subsequent biological responses triggered by phagocytosed macrophages and factors released from dying cells. Offering insights into cell death, it is a valuable resource for researchers and clinicians developing novel strategies to treat various diseases that are closely associated with cell death.

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Thompson&Thompson Genetics in Medicine - Nussbaum R.L. - 2016 год



Thompson&Thompson Genetics in Medicine - Nussbaum R.L. - 2016 год

Introduction
Introduction to the Human Genome
The Human Genome: Gene Structure and Function
Human Genetic Diversity: Mutation and Polymorphism
Principles of Clinical Cytogenetics and Genome Analysis
The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes
Patterns of Single-Gene Inheritance
Complex Inheritance of Common Multifactorial Disorders
Genetic Variation in Populations
Identifying the Genetic Basis for Human Disease
The Molecular Basis of Genetic Disease
The Molecular, Biochemical, and Cellular Basis of Genetic Disease
The Treatment of Genetic Disease
Developmental Genetics and Birth Defects
Cancer Genetics and Genomics
Risk Assessment and Genetic Counseling
Prenatal Diagnosis and Screening
Application of Genomics to Medicine and Personalized Health Care
Ethical and Social Issues in Genetics and Genomics

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Primary Aldosteronism: Molecular Genetics, Endocrinology, and Translational Medicine - Hellman P. - 2014 год



Primary Aldosteronism: Molecular Genetics, Endocrinology, and Translational Medicine - Hellman P. - 2014 год

Primary Aldosteronism (PA) is a disease caused by the overproduction of aldosterone hormone from the adrenal glands. PA causes hypertension and the majority with this disease are undiagnosed for PA. There are new insights into this matter by using biochemistry as well as advanced radiology. In 2011, a breakthrough in the genetic derangements came, identifying a mutated potassium channel gene – KCNJ5 – in about 40% of PA with adenoma. Chapters in this book include a history of the disorder, epidemiology, genetics derangements, the KCNJ5 mutations and phenotype and more.

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Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review - Houser C.M. - 2014 год



Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review - Houser C.M. - 2014 год

Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go.

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Behçet's Disease: From Genetics to Therapies - Ishigatsubo Y. - 2015 год



Behçet's Disease: From Genetics to Therapies - Ishigatsubo Y. - 2015 год

This book, besides reviewing basic and clinical aspects of Behçet's disease, covers the latest findings, including genetic studies and treatment with biologics for the disease.
Although the cause of Behçet's disease is still unknown, it is well known that genetic factors, such as HLA-B51, are involved in its development. Recently, novel susceptibility loci including IL10, IL23R-IL12RB2, and endoplasmic reticulum aminopeptidase 1 have been identified, providing new insights into the pathogenesis of the disease. In addition to basic research, the beneficial efficacy of anti-TNF-alpha monoclonal antibodies has also been suggested for not only uveitis associated with the disease but also other subtypes of the disease such as entero-, vasculo-, and neuro- Behçet's disease. Behçet's Disease: From Genetics to Therapies provides essential information both for basic researchers working in the fields of immunology, inflammation, and genetics, and for clinical physicians who are interested in Behçet's disease, such as ophthalmologists, rheumatologists, dermatologists, gastroenterologists, neurologists, and vascular surgeons.​

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Molecular Pathology of Nervous System Tumors: Biological Stratification and Targeted Therapies - Karajannis M.A., Zagzag D. - 2015 год



Molecular Pathology of Nervous System Tumors: Biological Stratification and Targeted Therapies - Karajannis M.A., Zagzag D. - 2015 год

This book serves as a comprehensive guide to the rapidly evolving field of molecular neuropathology of nervous system tumors, as well as the underlying biology and emerging molecular targeted therapies. Special emphasis is given to already established and emerging molecular diagnostic tests in neuropathology, as well as molecular targeted therapies. The book is organized by clinico-pathologic disease entities, and each chapter is written by a team of experts in their field.
The book is of great value and utility for physicians and scientists involved with or interested in the up-to-date diagnosis and treatment of patients with brain tumors.

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The Gene, the Clinic, and the Family: Diagnosing Dysmorphology, Reviving Medical Dominance - Latimer J. - 2013 год



The Gene, the Clinic, and the Family: Diagnosing Dysmorphology, Reviving Medical Dominance - Latimer J. - 2013 год

While some theorists argue that medicine is caught in a relentless process of ‘geneticization’ and others offer a thesis of biomedicalization, there is still little research that explores how these effects are accomplished in practice. Joanna Latimer, whose groundbreaking ethnography on acute medicine gave us the social science classic The Conduct of Care, moves her focus from the bedside to the clinic in this in-depth study of genetic medicine.
Against current thinking that proselytises the rise of laboratory science, Professor Latimer shows how the genetic clinic is at the heart of the revolution in the new genetics. Tracing how work on the abnormal in an embryonic genetic science, dysmorphology, is changing our thinking about the normal, The Gene, the Clinic, and the Family charts new understandings about family, procreation and choice. Far from medicine experiencing the much-proclaimed ‘death of the clinic’, this book shows how medicine is both reasserting its status as a science and revitalising its dominance over society, not only for now but for societies in the future.
This book will appeal to students, scholars and professionals interested in medical sociology, science and technology studies, the anthropology of science, medical science and genetics, as well as genetic counselling.

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Genetic and Molecular Epidemiology of Multiple Myeloma - Lentzsch Suzanne - 2013 год



Genetic and Molecular Epidemiology of Multiple Myeloma - Lentzsch Suzanne - 2013 год

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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Biomarkers in Inborn Errors of Metabolism - Garg Uttam, Smith Laurie D. - 2017 год



Biomarkers in Inborn Errors of Metabolism - Garg Uttam, Smith Laurie D. - 2017 год

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders.
With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation.
Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future.

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Genetic Counseling for Adult Neurogenetic Disease: A Casebook for Clinicians - Goldman J. - 2015 год



Genetic Counseling for Adult Neurogenetic Disease: A Casebook for Clinicians - Goldman J. - 2015 год

The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging.
A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed:
Movement disorders, including Parkinson's disease.
Dementias, including Alzheimer's disease.
Stroke.
Motor neuron diseases.
Neuropathies and channelopathies.
Adult muscular dystrophies.
Neurocutaneous syndromes.
Plus a section on neurological and neuropsychological evaluation.
This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.

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