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Breast MRI for High-risk Screening

https://libcat.nshealth.ca/en/permalink/provcat46097
Francesco Sardanelli, Franca Podo, editors. --Cham: Springer , c2020.
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This book offers a comprehensive overview of the use of breast MRI for screening high-risk women, including those with familial-genetic hereditary predisposition and previous chest radiation therapy, typically lymphoma survivors. It discusses the historical background of studies and research that provided the body of evidence in favor of MRI screening of these women. Technical and clinical topics are treated in dedicated chapters, including models for individualized risk estimation, radiogenomi…
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Other Authors
Sardanelli, Francesco
Podo, Franca
Responsibility
Francesco Sardanelli, Franca Podo, editors
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2020
Physical Description
1 online resource (xxiii, 376 p.) : 84 illus., 32 illus. in color
ISBN
9783030412074
9783030412067 (Print ed.)
9783030412081 (Print ed.)
9783030412098 (Print ed.)
Subjects (MeSH)
Breast Neoplasms - diagnosis
Diagnostic Screening Programs
Female
Genetic Predisposition to Disease
Magnetic Resonance Imaging - methods
Specialty
Diagnostic Imaging
Gynecology
Abstract
This book offers a comprehensive overview of the use of breast MRI for screening high-risk women, including those with familial-genetic hereditary predisposition and previous chest radiation therapy, typically lymphoma survivors. It discusses the historical background of studies and research that provided the body of evidence in favor of MRI screening of these women. Technical and clinical topics are treated in dedicated chapters, including models for individualized risk estimation, radiogenomics of breast cancer in high-risk women, computer-aided detection/diagnosis and machine learning systems applied to breast MRI, and psycho-oncology issues. Alternatives to breast MRI screening such as pharmaco-prevention and prophylactic mastectomy are also discussed, taking into account the public debate on the “Angelina Jolie” effect. The high breast cancer risk model is proposed as a paradigm for personalized medicine. This book will be of interest to radiologists, surgeons, oncologists and to all professionals devoted to female healthcare.
Contents
1. From NMR to Clinical Breast MRI -- 2. The Mantra about Low Specificity of Breast MRI -- 3. Hereditary Breast Cancer: BRCA and Other Susceptibility Genes -- 4. MRI Protocols for Breast Cancer Screening -- 5. Gadolinium-Based Contrast Agents for Breast MRI and Uncertainties About Brain Gadolinium Retention -- 6. Applying the MRI BI-RADS in a High-Risk Population -- 7. CAD and Machine Learning for Breast MRI -- 8. Radiogenomics and Phenotype Presentation of Breast Cancer with a Special Focus on High-Risk Women -- 9. Primary Studies on Breast MRI Screening of High-Risk Women -- 10. Genetic/Familial High-Risk Screening: MRI Alone? -- 11. Systematic Reviews, Meta-Analyses, and Cost-Effective Analyses on Breast MRI Screening of High-Risk Women -- 12. Radioprotection Issues for Women with Hereditary Predisposition for Breast Cancer -- 13. Impact of MRI Screening on High-Risk Patient Outcome -- 14. The Special Case of Previous Chest Radiation Therapy -- 15. Electronic Data Capture Systems for Breast Cancer Research -- 16. Guidelines and Recommendations on High-Risk Breast Cancer Screening All Over the World: Agreements and Differences -- 17. A Soft Option for Primary Prevention: Drugs and Agents -- 18. Surgical Options for Primary Prevention: Prophylactic Mastectomy and Oophorectomy -- 19. Psychological Aspects of High Risk of Breast Cancer -- 20. Calculating, Using and Improving Individual Breast Cancer Risk Estimates -- 21. MRI for Screening Women with a Personal History of Breast Cancer -- 22. Breast MRI Screening for the Intermediate Risk: An Open Issue -- 23. Hypotheses for the Future.
Format
e-Book
Location
Online
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Changing Paradigms in the Management of Breast Cancer

https://libcat.nshealth.ca/en/permalink/provcat43132
Marissa Howard-McNatt, editor. --Cham: Springer , c2018.
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This text is designed to present a comprehensive and state-of the-art approach to the management of breast cancer within the fields of surgery, medical oncology, and radiation oncology. Sections address changes in these fields. These areas include breast imaging, management of the axilla, atypical breast lesions, surgical margins, new techniques in breast reconstruction, and nipple sparing and contralateral mastectomies. Subsequent chapters focus on issues in medical oncology including, triple …
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Other Authors
Howard-McNatt, Marissa
Responsibility
Marissa Howard-McNatt, editor
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2018
Physical Description
1 online resource (xiii, 237 p.) : 42 illus., 35 illus. in color
ISBN
9783319603360
9783319603353 (print ed.)
9783319603377 (print ed.)
9783319868394 (print ed.)
Subjects (MeSH)
Age Factors
Breast Neoplasms - therapy
Genetic Predisposition to Disease
Mastectomy - methods
Specialty
Gynecology
Abstract
This text is designed to present a comprehensive and state-of the-art approach to the management of breast cancer within the fields of surgery, medical oncology, and radiation oncology. Sections address changes in these fields. These areas include breast imaging, management of the axilla, atypical breast lesions, surgical margins, new techniques in breast reconstruction, and nipple sparing and contralateral mastectomies. Subsequent chapters focus on issues in medical oncology including, triple negative breast cancer and metastatic breast disease. New paradigms in radiation oncology are examined. Breast cancer treatment in the elderly and in young women, and genetic risk in breast cancer management is also be discussed. Written by experts in their field, each of these sections addresses advances and changes in the field. A brief review of the existing literature addressing the particular topic follows in each section. The text concludes with chapters on pathological issues and advances in radiation oncology. As access to a comprehensive multidisciplinary resource such as this is currently limited in the literature, Changing Paradigms in the Management of Breast Cancer represents the first single source to provide information on advances and outcomes for the physician caring for breast cancer patients in a multidisciplinary setting.
Contents
Breast Imaging: Tomosynthesis, Elastography, Breast MRI, and Emerging Techniques -- Nipple Sparing Mastectomy -- Contralateral Prophylactic Mastectomy: Current Perspectives -- Management of the Axilla in Breast Cancer -- Margins and Breast Cancer -- Percutaneous Ablation in the Treatment of Breast Cancer -- New Technology and Techniques in Breast Reconstruction -- New Thoughts on Atypias of the Breast: Flat Epithelial Atypia, Atypical Ductal Hyperplasia, and Lobular Neoplasia -- New Techniques in Radiation Oncology -- Radiotherapy and Regional Nodes -- Triple Negative Breast Cancer -- New Treatments for Metastatic Breast Cancer -- Breast Cancer Treatment in Elderly Patients -- Breast Cancer Treatment in Young Women -- Genetic Risk Prediction in Breast Cancer.
Format
e-Book
Location
Online
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Clinical Cardiogenetics

https://libcat.nshealth.ca/en/permalink/provcat40329
Hubert F. Baars, Pieter A. F. M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen, editors. (2nd ed.) --Cham: Springer , c2016.
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This extensively revised second edition provides a thorough basic knowledge on the genetic aspects of cardiovascular disorders. Many cardiologists have not been specifically trained in genetics, let alone in explaining genetics to their patients. While clinics for cardiogenetic disorders have been established in many academic teaching hospitals, it is neither desirable nor feasible that the care for this large group of patients and their relatives remains solely restricted to this small number …
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Baars, Hubert F
Doevendans, Pieter A. F. M
Houweling, Arjan C
van Tintelen, J. Peter
Responsibility
Hubert F. Baars, Pieter A. F. M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen, editors
Edition
2nd ed.
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2016
Physical Description
1 online resource (viii, 405 p. : 93 illus., 55 illus. in color)
ISBN
9783319442037
9783319442020 (print ed.)
Subjects (MeSH)
Cardiovascular Diseases - genetics
Genetic predisposition to disease
Abstract
This extensively revised second edition provides a thorough basic knowledge on the genetic aspects of cardiovascular disorders. Many cardiologists have not been specifically trained in genetics, let alone in explaining genetics to their patients. While clinics for cardiogenetic disorders have been established in many academic teaching hospitals, it is neither desirable nor feasible that the care for this large group of patients and their relatives remains solely restricted to this small number of centers. This book reviews the expertise that all cardiologists, clinical and molecular geneticists, genetic nurses, and social workers need to provide optimal care for individuals with cardiac disease of probable genetic origin and their family members. Clinical Cardiogenetics, Second Edition, compiles the huge amount of information available in a single easy-to-read textbook. It does not require prior expert genetic knowledge and provides a practical clinical primer for cardiologists and other physicians involved in the management of these patients. With the continuing increase in genetic knowledge, and the expanding possibilities to prevent fatal arrhythmias in those individuals at high risk, a steady increase in questions regarding genetics from patients and their relatives in the years to come should be expected. This comprehensive textbook is a valuable tool in dealing with such questions.
Contents
Part I: Genetics -- 1 Introduction to Molecular Genetics -- 2 Clinical Genetics -- Part II: Cardiomyopathies -- 3 Introduction Hereditary Cardiomyopathies -- 4 Hypertrophic Cardiomyopathy -- 5 Dilated Cardiomyopathy -- 6 Arrhythmogenic Cardiomyopathy -- 7 Left Ventricular Noncompaction -- 8 Restrictive Cardiomyopathy -- 9 Mitochondrial Cardiomyopathy -- Part III: Hereditary Arrhythmia Syndromes -- 10 Long QT Syndrome -- 11 Brugada Syndrome -- 12 Catecholaminergic Polymorphic Ventricular Tachycardia -- 13 Short QT Syndrome -- 14 Idiopathic Ventricular Fibrillation -- 15 A Molecular Genetic Perspective on Atrial Fibrillation -- 16 Hereditary Cardiac Conduction Diseases -- Part IV: Hereditary Aortic Diseases -- 17 Heritable Thoracic Aortic Disorders -- 18 Bicuspid Aortic Valve -- Part V: Sudden Cardiac Death in the Young -- 19 Sudden Cardiac Death in the Young; Epidemiology and Cardiogenetic Evaluation of Victims and Their Relatives -- Part VI: Miscellaneous -- 20 The Genetics of Mitral Valve Prolapse -- 21 Genetic Disorders of Lipoprotein Metabolism: Diagnosis and Management -- 22 Genetics of (Premature) Coronary Artery Disease -- 23 Hereditary Neuromuscular Diseases and Cardiac Involvement -- 24 Future of Cardiogenetics -- Index.
Format
e-Book
Location
Online
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Clinical Cardiogenetics

https://libcat.nshealth.ca/en/permalink/provcat45501
Hubert F. Baars, Pieter A. F. M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen, editors. (Third edition) --Cham: Springer , c2020.
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This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes an…
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Other Authors
Baars, Hubert F.
Doevendans, Pieter A.F.M.
Houweling, Arjan C.
van Tintelen, J. Peter
Responsibility
Hubert F. Baars, Pieter A. F. M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen, editors
Edition
Third edition
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2020
Physical Description
1 online resource (xiii, 461 p.) : 131 illus., 122 illus. in color
ISBN
9783030454579
9783030454562 (Print ed.)
9783030454586 (Print ed.)
9783030454593 (Print ed.)
Subjects (MeSH)
Cardiovascular Diseases - genetics
Genetic Predisposition to Disease
Heart Defects, Congenital
Specialty
Cardiology
Genetics, Medical
Abstract
This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion. Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.
Contents
Part I. Genetics -- 1. Introduction to Molecular Genetics -- 2. Clinical Genetics -- Part II. Cardiomyopathies -- 3. Introduction to Hereditary Cardiomyopathies -- 4. Hypertrophic Cardiomyopathy -- 5. Dilated Cardiomyopathy -- 6. Arrhythmogenic Cardiomyopathy -- 7. Left Ventricular Noncompaction -- 8. Restrictive Cardiomyopathy -- 9. Metabolic Cardiomyopathy -- 10. Cardiac Amyloidosis -- 11. Mitochondrial Cardiomyopathies -- Part III. Inherited Arrhythmia Syndromes -- 12. Long QT Syndrome -- 13. Short QT Syndrome -- 14. Brugada Syndrome -- 15. Catecholaminergic Polymorphic Ventricular -- 16. Idiopathic Ventricular Fibrillation and Early Repolarization Syndrome -- 17. Hereditary Cardiac Conduction Diseases -- 18. A Molecular Genetic Perspective on Atrial Fibrillation -- Part IV. Hereditary Thoracic Aortic Diseases -- 19. Heritable Thoracic Aortic Diseases: Syndromal and Isolated (F)TAAD -- 20. Bicuspid Aortic Valve -- Part V. Miscellaneous -- 21. Sudden Cardiac Death in the Young: Post-mortem Investigation and Cardiogenetic Evaluation of Victims and Their Relatives -- 22. Hereditary Neuromuscular Diseases and Cardiac Involvement -- 23. Genetic Disorders of Lipoprotein Metabolism: Diagnosis and Management -- 24. Genetics of (Premature) Coronary Artery Disease -- 25. The Genetics of Mitral Valve Prolapse -- 26. Induced Pluripotent Stem Cells -- 27. Prenatal Diagnosis and Preimplantation Genetic Testing for Inherited Cardiac Diseases.
Format
e-Book
Location
Online
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Clinical Relevance of Genetic Factors in Pulmonary Diseases

https://libcat.nshealth.ca/en/permalink/provcat43400
Takeshi Kaneko, editor. --Singapore: Springer , c2018.
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This book describes the underlying genetic basis of common pulmonary diseases and discusses their pathogenesis and pathophysiology. These insights provide the basis for understanding different subtypes and phonotypes, and will promote better treatment strategies and individualized medicine. The book provides new and valuable information for the development of the areas of study, as well as practical guidelines for clinicians engaged in treating pulmonary diseases. This volume of the Respiratory…
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Kaneko, Takeshi
Responsibility
Takeshi Kaneko, editor
Place of Publication
Singapore
Publisher
Springer
Date of Publication
c2018
Physical Description
1 online resource (ix, 344 p.) : 55 illus., 36 illus. in color
Series
Respiratory Disease Series: Diagnostic Tools and Disease Managements
Series Title
Respiratory disease series
ISBN
9789811081446
9789811081439 (print ed.)
9789811081453 (print ed.)
ISSN
2509-5552
Subjects (MeSH)
Genetic Predisposition to Disease
Lung Diseases - diagnosis
Lung Diseases - genetics
Lung Diseases - physiopathology
Precision Medicine
Risk Factors
Specialty
Genetics, Medical
Pulmonary Medicine
Abstract
This book describes the underlying genetic basis of common pulmonary diseases and discusses their pathogenesis and pathophysiology. These insights provide the basis for understanding different subtypes and phonotypes, and will promote better treatment strategies and individualized medicine. The book provides new and valuable information for the development of the areas of study, as well as practical guidelines for clinicians engaged in treating pulmonary diseases. This volume of the Respiratory Disease Series : Diagnostic Tools and Disease Managements will broaden the understanding of beginning and experienced researchers and clinicians who treat pulmonary diseases. Moreover, residents and clinicians engaged in medical oncology will find it a valuable guide to support them in their day-to-day work.
Contents
Part I. Introduction -- 1. Clinical development of genomic medicine in pulmonary diseases: Are genetic factors enough to determine the phenotype and inheritance of pulmonary diseases? -- 2. Statistical approaches and strategies for complex diseases - Overview - : What is the rationale for the genome-wide approach to understand complex diseases - its application and limitations -- Part II. Genetic Disorders in Pulmonary Disease -- 3. Bronchial asthma: Is asthma inherited? -- 4. COPD - Hereditary (A1-AT) and Non-hereditary: What are the roles of genetic factors in the pathogenesis of COPD? -- 5. Smoking behavior and cessation (nicotine addiction): Are genetic factors involved in smoking behavior? -- 6. Cystic fibrosis, Primary ciliary dyskinesia and Diffuse panbronchiolitis - Hereditary and Non-Hereditary: What are the roles of genetic factors in the pathogenesis of these diseases? -- 7. Pulmonary Fibrosis -Hereditary and Nonhereditary: What are the role of genetic factors in the pathogenesis of pulmonary fibrosis? -- 8. Other diffuse lung diseases - Diffuse cystic lung diseases (LAM, TSC, BHD), Sarcoidosis, Pulmonary alveolar proteinosis, and Pulmonary alveolar microlithiasis: What are the roles of genetic factors in the pathogenesis of these diseases? -- 9. Pulmonary vascular diseases. Pulmonary hypertension and HHT: What are the roles of genetic factors in the pathogenesis of pulmonary vascular diseases? -- 10. Mycobacterial infection—TB and NTM: What are the roles of genetic factors in the pathogenesis of mycobacterial infection? -- 11. Pulmonary malignancies (1). Lung cancer: What are the roles of genetic factors in lung cancer pathogenesis? -- 12. Pulmonary malignancies (2). Mesothelioma: What are the Roles of Genetic Factors in the Pathogenesis of Mesothelioma? -- 13. Genetic Factors in Sleep Disorders: What are the roles of genetic factors in the pathogenesis of sleep disorders? -- 14. Pharmacokinetics, pharmacodynamics, and toxicities: What should we know about genetic factors that affect the pharmacotherapy of pulmonary diseases? -- Part III. Oncogenic Driver Mutation (Somatic Mutations) in Lung Cancer -- 15. EGFR: How important is EGFR mutation status in the management of lung cancer? -- 16. ALK, and others: How important are ALK, and other mutations in the management of lung cancer? -- Part IV. Current Topics -- 17. Application of high-throughput technologies in personal genomics: How is the progress in personal genome service? -- 18. Nucleic acid amplification-based diagnostics for pulmonary diseases : What is the current state and perspectives of nucleic acid amplification technologies used in diagnostics associated with pulmonary diseases?
Format
e-Book
Location
Online
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Confronting hereditary breast and ovarian cancer : identify your risk, understand your options, change your destiny

https://libcat.nshealth.ca/en/permalink/provcat26054
Sue Friedman, Rebecca Sutphen, Kathy Steligo. --Baltimore, MD: Johns Hopkins University Press , 2012.
Call Number
WP 870 F911c 2012
Location
Dickson Building
Call Number
WP 870 F911c 2012
Author
Friedman, Sue
Other Authors
Sutphen, Rebecca
Steligo, Kathy
Responsibility
Sue Friedman, Rebecca Sutphen, Kathy Steligo
Place of Publication
Baltimore, MD
Publisher
Johns Hopkins University Press
Date of Publication
2012
Physical Description
261 p.
ISBN
9781421404080
Subjects (MeSH)
Breast Neoplasms - genetics
Breast Neoplasms - prevention & control
Ovarian Neoplasms - genetics
Ovarian Neoplasms - prevention & control
Genetic Testing
Genetic Predisposition to Disease
Women's Health
Format
Book
Location
Dickson Building
Loan Period
3 weeks
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Emery and Rimoin's principles and practice of medical genetics and genomics : cardiovascular, respiratory, and gastrointestinal disorders

https://libcat.nshealth.ca/en/permalink/provcat43997
editors Reed Pyeritz, Bruce Korf, Wayne Grody. (7th ed.) --London, UK: Elsevier , c2020.
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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spe…
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Other Authors
Pyeritz, Reed
Responsibility
editors Reed Pyeritz, Bruce Korf, Wayne Grody
Edition
7th ed.
Alternate Title
Principles & practice of medical genetics & genomics
Place of Publication
London, UK
Publisher
Elsevier
Date of Publication
c2020
Physical Description
1 online resource, 594 p.
ISBN
9780128125328
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Specialty
Genetics, Medical
Abstract
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine.
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Emery and Rimoin's principles and practice of medical genetics and genomics : cardiovascular, respiratory, and gastrointestinal disorders

https://libcat.nshealth.ca/en/permalink/provcat50645
Pyeritz, Reed E. (7th ed.) --London, England: Academic Press , 2020.
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Online
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Author
Pyeritz, Reed E.
Other Authors
Korf, Bruce R.
Grody, Wayne W.
Edition
7th ed.
Place of Publication
London, England
Publisher
Academic Press
Date of Publication
2020
ISBN
9780128125328
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Notes
Access to this online resource is restricted to IWK Health Centre employees working from inside the hospital network.
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e-Book
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Online
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Emery and Rimoin's principles and practice of medical genetics and genomics : clinical principles and applications

https://libcat.nshealth.ca/en/permalink/provcat43442
editors Reed Pyeritz, Bruce Korf, Wayne Grody. (7th ed.) --London, UK: Elsevier , c2019.
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The Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related t…
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Other Authors
Pyeritz, Reed
Responsibility
editors Reed Pyeritz, Bruce Korf, Wayne Grody
Edition
7th ed.
Alternate Title
Emery & Rimoin's principles and practice of medical genetics & genomics - clinical principles & applications
Principles and practice of medical genetics and genomics
Place of Publication
London, UK
Publisher
Elsevier
Date of Publication
c2019
Physical Description
1 online resource, 397 p.
ISBN
9780128125366
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Specialty
Genetics, Medical
Abstract
The Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.
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Emery and Rimoin's principles and practice of medical genetics and genomics : clinical principles and applications

https://libcat.nshealth.ca/en/permalink/provcat50646
Pyeritz, Reed E. (7th ed.) --London, England: Academic Press , 2019.
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Online
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Author
Pyeritz, Reed E.
Other Authors
Korf, Bruce R.
Grody, Wayne W.
Edition
7th ed.
Place of Publication
London, England
Publisher
Academic Press
Date of Publication
2019
ISBN
9780128125366
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Notes
Access to this online resource is restricted to IWK Health Centre employees working from inside the hospital network.
Format
e-Book
Location
Online
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Emery and Rimoin's principles and practice of medical genetics and genomics : foundations

https://libcat.nshealth.ca/en/permalink/provcat42513
editors Reed Pyeritz, Bruce Korf, Wayne Grod. (7th ed.) --London, UK: Elsevier , c2019.
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For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome s…
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Other Authors
Pyeritz, Reed
Responsibility
editors Reed Pyeritz, Bruce Korf, Wayne Grod
Edition
7th ed.
Alternate Title
Principles & practice of medical genetics & genomics
Place of Publication
London, UK
Publisher
Elsevier
Date of Publication
c2019
Physical Description
1 online resource, 412 p.
ISBN
9780128125373
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Specialty
Genetics, Medical
Abstract
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions.
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Emery and Rimoin's principles and practice of medical genetics and genomics : metabolic disorders

https://libcat.nshealth.ca/en/permalink/provcat45682
editors Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grod. (7th ed.) --London, UK: Elsevier , c2021.
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For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome s…
Available Online
View e-Book
Other Authors
Pyeritz, Reed E.
Responsibility
editors Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grod
Edition
7th ed.
Alternate Title
Principles & practice of medical genetics & genomics
Metabolic disorders
Place of Publication
London, UK
Publisher
Elsevier
Date of Publication
c2021
Physical Description
1 online resource, 572 p.
ISBN
9780128125359
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Specialty
Genetics, Medical
Abstract
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions.
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e-Book
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Genetic cardiomyopathies : a clinical approach

https://libcat.nshealth.ca/en/permalink/provcat32532
Gianfranco Sinagra, Luisa Mestroni, Fulvio Camerini, editors ; foreword by Perry Elliott. --Milan: Springer , c2013.
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Location
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In the last decade, genetics has been emerging as a primary issue in the diagnosis and management of cardiomyopathies. This book is intended to be a state-of-the-art monograph on these diseases, describing their genetic causes, defining the molecular basis and presenting extensive descriptions of genotypeÇôphenotype correlations. Other chapters are focused on the role of clinical observation, on ECG and echocardiography. With its highlight on the most recent discoveries in the field of molecul…
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Other Authors
Sinagra, Gianfranco
Mestroni, Luisa
Camerini, Fulvio
Responsibility
Gianfranco Sinagra, Luisa Mestroni, Fulvio Camerini, editors ; foreword by Perry Elliott
Place of Publication
Milan
Publisher
Springer
Date of Publication
c2013
Physical Description
1 online resource (xi, 166 p.)
ISBN
9788847027572
Subjects (MeSH)
Cardiomyopathies - genetics
Cardiovascular Diseases - genetics
Genetic predisposition to disease
Subjects (LCSH)
Cardiology
Abstract
In the last decade, genetics has been emerging as a primary issue in the diagnosis and management of cardiomyopathies. This book is intended to be a state-of-the-art monograph on these diseases, describing their genetic causes, defining the molecular basis and presenting extensive descriptions of genotypeÇôphenotype correlations. Other chapters are focused on the role of clinical observation, on ECG and echocardiography. With its highlight on the most recent discoveries in the field of molecular genetics as well as on the correct clinical approach to patients with heart muscle disease, the book is aimed at physicians and clinical cardiologists with a particular interest in myocardial diseases and in their genetic causes.
Contents
1 Introduction -- 2 Family History -- 3 The Role of Clinical Observation: Red Flag 1 - Cardiomyopathies and Skeletal Muscle Involvement -- 4 The Role of Clinical Observation: Red Flag 2 - Cardiomyopathies and Arrhythmias -- 5 The Role of Clinical Observation: Red Flag 3 - Cardiomyopathies, WPW Syndrome and Other ECG Abnormalities -- 6 The Role of Clinical Observation: Red Flag 4 - Cardiomyopathies and Sensorineural Hearing Loss -- 7 The Role of Clinical Observation: Red Flag 5 - Right Ventricular Involvement, Arrhythmogenic Right Ventricular Cardiomyopathy and Associated Phenotypes -- 8 The Role of Clinical Observation: Red Flag 6 - Left Ventricular Non-Compaction -- 9 The Role of Clinical Observation: Red Flag 7 - Syndromic and Multisystem Cardiomyopathies -- 10 The Role of Clinical Observation: Red Flag 8 -á Cardiomyopathies in the First Year of Life and Paediatric Cardiomyopathies -- 11 Clinical Genetic Testing in Cardiomyopathies -- 12 Conclusive Remarks.
Format
e-Book
Location
Online
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Hereditary Colorectal Cancer

https://libcat.nshealth.ca/en/permalink/provcat28431
edited by Miguel A. Rodriguez-Bigas, Raul Cutait, Patrick M. Lynch, Ian Tomlinson, Hans F.A. Vasen. --Boston, MA: Springer Science+Business Media , c2010.
Available Online
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Location
Online
Available Online
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Author
Rodriguez-Bigas, Miguel A
Other Authors
Cutait, Raul
Lynch, Patrick M
Tomlinson, Ian
Vasen, Hans F.A
Responsibility
edited by Miguel A. Rodriguez-Bigas, Raul Cutait, Patrick M. Lynch, Ian Tomlinson, Hans F.A. Vasen
Place of Publication
Boston, MA
Publisher
Springer Science+Business Media
Date of Publication
c2010
Series Title
M.D. Anderson Solid Tumor Oncology Series
ISBN
9781441966032
Subjects (MeSH)
Colorectal Neoplasms - genetics
Adenomatous Polyposis Coli
Colorectal Neoplasms, Hereditary Nonpolyposis
Genetic counseling
Genetic predisposition to disease
Subjects (LCSH)
Colorectal diseases
Genetics
Oncology
Cancer - Surgery
Format
e-Book
Location
Online
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Immunoendocrinology : Scientific and Clinical Aspects

https://libcat.nshealth.ca/en/permalink/provcat29955
edited by George S. Eisenbarth. --Totowa, NJ: Springer Science+Business Media , c2011.
Available Online
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Location
Online
Available Online
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Author
Eisenbarth, George S
Responsibility
edited by George S. Eisenbarth
Place of Publication
Totowa, NJ
Publisher
Springer Science+Business Media
Date of Publication
c2011
Series Title
Contemporary endocrinology (Totowa, N.J.)
ISBN
9781603274784
Subjects (MeSH)
Autoimmune Diseases
Autoimmunity
Endocrine System Diseases - immunology
Genetic predisposition to disease
Subjects (LCSH)
Immunology
Endocrinology 
Format
e-Book
Location
Online
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Medical genetics

https://libcat.nshealth.ca/en/permalink/provcat50913
Jorde, Lynn. (6th ed.) --Philadelphia, PA: Elsevier , 2020.
Available Online
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Location
Online
Available Online
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Author
Jorde, Lynn
Other Authors
Carey, John C.
Bamshad, Michael J.
Edition
6th ed.
Place of Publication
Philadelphia, PA
Publisher
Elsevier
Date of Publication
2020
ISBN
9780323597371
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Notes
Access to this online resource is restricted to IWK Health Centre employees working from inside the hospital network.
Format
e-Book
Location
Online
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Medical genetics

https://libcat.nshealth.ca/en/permalink/provcat35054
Lynn B. Jorde, John C. Carey, Michael J. Bamshad. (6th ed.) --Philadelphia, PA: Elsevier , c2020.
Available Online
View e-Book
Access
Registration required for PDF access.
Location
Online
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material.
Available Online
View e-Book
Author
Jorde, Lynn B
Responsibility
Lynn B. Jorde, John C. Carey, Michael J. Bamshad
Edition
6th ed.
Place of Publication
Philadelphia, PA
Publisher
Elsevier
Date of Publication
c2020
Physical Description
1 online resource, 352 p.
ISBN
9780323597371
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Specialty
Genetics, Medical
Abstract
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material.
Access
Registration required for PDF access.
Format
e-Book
Location
Online
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Molecular and genetic analysis of human traits

https://libcat.nshealth.ca/en/permalink/provcat21059
Maroni, Gustavo. --Malden, MA: Blackwell Science , 2001.
Call Number
QZ 50 M354m 2001
Location
Dickson Building
Call Number
QZ 50 M354m 2001
Author
Maroni, Gustavo
Place of Publication
Malden, MA
Publisher
Blackwell Science
Date of Publication
2001
Physical Description
274 p.
ISBN
0632043695
Subjects (MeSH)
Genetics, Medical
Linkage (genetics)
Genome, Human
Genetic predisposition to disease
Format
Book
Location
Dickson Building
Loan Period
3 weeks
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Moyamoya Disease Explored Through RNF213 : Genetics, Molecular Pathology, and Clinical Sciences

https://libcat.nshealth.ca/en/permalink/provcat41964
Akio Koizumi, Kazuhiro Nagata, Kiyohiro Houkin, Teiji Tominaga, Susumu Miyamoto, Shigeo Kure, Elizabeth Tournier-Lasserve, editors. --Singapore: Springer , 2017.
Available Online
View e-Book
Location
Online
This book presents the latest findings on biological, epidemiological, and clinical investigations of RNF213, which is thought to be involved in many biological processes and plays a key role in cerebro- and cardiovascular disease . By discussing the epidemiology and genetic epidemiology of the disease with a particular focus on the molecular function of RNF213, research using animal models, diagnosis, therapy and clinical management around the world, this work makes a valuable contribution to …
Available Online
View e-Book
Other Authors
Koizumi, Akio
Nagata, Kazuhiro
Houkin, Kiyohiro
Tominaga, Teiji
Miyamoto, Susumu
Kure, Shigeo
Tournier-Lasserve, Elizabeth
Responsibility
Akio Koizumi, Kazuhiro Nagata, Kiyohiro Houkin, Teiji Tominaga, Susumu Miyamoto, Shigeo Kure, Elizabeth Tournier-Lasserve, editors
Place of Publication
Singapore
Publisher
Springer
Date of Publication
2017
Physical Description
1 online resource (viii, 185 pages) : 36 illus., 22 illus. in color
Series Title
Current Topics in Environmental Health and Preventive Medicine
ISBN
9789811027116
9789811027109 (print ed.)
ISSN
2364-8333
Subjects (MeSH)
Adenosine Triphosphatases - genetics
Genetic Predisposition to Disease
Moyamoya Disease - genetics
Moyamoya Disease - physiopathology
Ubiquitin-Protein Ligases - genetics
Abstract
This book presents the latest findings on biological, epidemiological, and clinical investigations of RNF213, which is thought to be involved in many biological processes and plays a key role in cerebro- and cardiovascular disease . By discussing the epidemiology and genetic epidemiology of the disease with a particular focus on the molecular function of RNF213, research using animal models, diagnosis, therapy and clinical management around the world, this work makes a valuable contribution to the study of the disease. Moyamoya Disease Explored Through RNF213 is an indispensable resource for both beginning and experienced researchers, pediatricians, neurologists, and neurosurgeons who are seeking comprehensive information on adult and childhood stroke.
Contents
Part I: Prologue -- 1. A prologue to moyamoya disease and RNF213 -- 2. Concept of moyamoya Disease -- Part II: Genetic Epidemiology -- 3. Molecular Epidemiology in East Asian Countries and in the World -- Part III: Biochemistry, Function and Molecular Pathology -- 4. Molecular Biology of Mysterin/RNF213 -- 5. Physiological Role of Mysterin/RNF213 in Zebrafish -- 6. Pathological Investigation on RNF213: Animal Models Knockout and Transgenic Mice in Diabetes and Signal Transduction -- 7. Pathological Investigation on RNF213: Animal Models of Rnf213-knockout and Knock-in Mice -- 8. RNF213 and Circulating Factors in Patients with Moyamoya Disease -- 9. Genetics of Moyamoya beyond RNF213. Monogenic Moyamoya Syndromes -- Part IV: Clinical Management 10. Natural History and Long-term Clinical Outcome after Conservative and Surgical Management -- 11. Significance of RNF213 in Clinical Management in Japan -- 12. Significance of RNF213 in Clinical Management in China -- 13. The Different Forms of Moyamoya Disease and Their Clinical Management -- 14. Vascular Diseases Attributable to RNF213 Other than Moyamoya Disease -- Part V: Epilogue -- 15. Future Clinical Perspectives on RNF213 in Moyamoya Disease.
Format
e-Book
Location
Online
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Textbook of Autoinflammation

https://libcat.nshealth.ca/en/permalink/provcat44144
Philip J. Hashkes, Ronald M. Laxer, Anna Simon, editors. --Cham: Springer , 2019.
Available Online
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Location
Online
This book, the first complete textbook on this novel field in Medicine, comprehensively covers the clinical presentation, pathogenesis, genetics, and latest management strategies for autoinflammatory disorders as well as the basic science of autoinflammation. Relevant concepts such as how translational science of genetics and immunology relates to the innate immune system and autoinflammation are covered. Descriptions of the monogenic and polygenic/complex diseases that fall under the umbrella …
Available Online
View e-Book
Other Authors
Hashkes, Philip J.
Laxer, Ronald M.
Simon, Anna
Responsibility
Philip J. Hashkes, Ronald M. Laxer, Anna Simon, editors
Place of Publication
Cham
Publisher
Springer
Date of Publication
2019
Physical Description
1 online resource (x, 820 p.) : 154 illus., 135 illus. in color
ISBN
9783319986050
9783319986043 (Print ed.)
9783319986067 (Print ed.)
Subjects (MeSH)
Autoimmune Diseases
Genetic Predisposition to Disease
Hereditary Autoinflammatory Diseases
Immunity, Innate - genetics
Inflammation - immunology
Specialty
Allergy and Immunology
Abstract
This book, the first complete textbook on this novel field in Medicine, comprehensively covers the clinical presentation, pathogenesis, genetics, and latest management strategies for autoinflammatory disorders as well as the basic science of autoinflammation. Relevant concepts such as how translational science of genetics and immunology relates to the innate immune system and autoinflammation are covered. Descriptions of the monogenic and polygenic/complex diseases that fall under the umbrella of autoinflammatory diseases are provided. Further topics covered include the latest clinical and genetic diagnostic approaches, concepts on the relationship between autoinflammation and autoimmunity/immunodeficiency, the role of autoinflammation in cancer, treatments and management strategies for these diseases, and potential areas of future development. The Textbook of Autoinflammation systematically describes and reviews diagnostic and treatment options for autoinflammatory disorders as well as all aspects of the concept of autoinflammation, and represents a valuable resource for professionals in a variety of disciplines who encounter these patients or who study autoinflammation.
Contents
Part I. Introduction -- 1 Autoinflammation: Past, Present, and Future -- Part II. Basic Science and Biology of Autoinflammation -- 2. Genetic Aspects of Investigating and Understanding Autoinflammation -- 3. Epigenetics in Autoinflammation -- 4. Pattern Recognition Receptors in Autoinflammation -- 5. Inflammasomes and Autoinflammation -- 6. Cytokines in Autoinflammation -- 7. Proteasomes in Autoinflammation -- 8. Disruption of Protein Homeostasis and Activation of Cellular Stress Pathways in Autoinflammation -- 9. S100 Proteins in Autoinflammation -- Part III. General Approach to Autoinflammatory Diseases -- 1.0 Classification of Genetically Defined Autoinflammatory Diseases -- 11. Clinical Approach to the Diagnosis of Autoinflammatory Diseases -- 12. Genetic Approach to the Diagnosis of Autoinflammatory Diseases -- 13. Monitoring Disease Activity, Damage and Quality of Life -- 14. The Role of International Registries for Rare Autoinflammatory Diseases -- 15. Systemic Amyloidosis -- Part IV. Monogenic Autoinflammatory Diseases -- 16. Familial Mediterranean Fever -- 17. Mevalonate Kinase Deficiency -- 18. Tumor Necrosis Factor (TNF) Receptor-Associated Periodic Syndrome (TRAPS) -- 19. Cryopyrin-Associated Periodic Syndromes (CAPS) -- 20. Autoinflammatory Granulomatous Disease: Blau Syndrome -- 21. Very Early Onset Inflammatory Bowel Disease (VEOIBD) -- 22. Pyogenic Arthritis Pyoderma Gangrenosum and Acne (PAPA) Syndrome -- 23. Deficiency of Adenosine Deaminase 2 (DADA2) -- 24. Genetic Interferonopathies -- 25. Genetic Causes of Inflammatory Bone Disease -- 26. Pustular Forms of Psoriasis Related to Autoinflammation -- 27. Hydatidiform Moles -- 28. Monogenic Autoinflammatory Diseases Associated with Immunodeficiency -- 29. Other Rare Monogenic Autoinflammatory Diseases -- Part V. Complex Autoinflammatory Diseases -- 30. Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Syndrome -- 31. Chronic Non-Bacterial Osteomyelitis -- 32. Systemic Juvenile Idiopathic Arthritis and Adult Onset Still Disease -- 33. Macrophage Activation Syndrome in Rheumatic Diseases -- 34. Gouty Inflammation -- 35. Behçet Disease -- 36. Idiopathic Recurrent Pericarditis -- 37. Schnitzler Syndrome -- Part VI. The Relationship Between Autoinflammation and Other Inflammatory and Common Diseases -- 38. Autoinflammation and Autoimmunity -- 39. Interleukin-1 Mediated Autoinflammation from Heart Disease to Cancer -- Part VII. Pharmaceutical Agents for Treatment of the Autoinflammatory Diseases -- 40. Colchicine -- 41. Interleukin (IL)-1 Blocking Compounds and Their Use in Autoinflammatory Diseases -- 42. Corticosteroid, Other Biologic and Small Molecule Therapies in Systemic Autoinflammatory Disorders.
Format
e-Book
Location
Online
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