Breast MRI for High-risk Screening
https://libcat.nshealth.ca/en/permalink/provcat46097
Francesco Sardanelli, Franca Podo, editors.
--Cham:
Springer
, c2020.
- Available Online
- View e-Book
- Location
- Online
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…
- Available Online
- View e-Book
- 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
Changing Paradigms in the Management of Breast Cancer
https://libcat.nshealth.ca/en/permalink/provcat43132
Marissa Howard-McNatt, editor.
--Cham:
Springer
, c2018.
- Available Online
- View e-Book
- Location
- Online
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 …
- Available Online
- View e-Book
- 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
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.
- Available Online
- View e-Book
- Location
- Online
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 …
- Available Online
- View e-Book
- 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
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.
- Available Online
- View e-Book
- Location
- Online
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…
- Available Online
- View e-Book
- 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
Clinical Relevance of Genetic Factors in Pulmonary Diseases
https://libcat.nshealth.ca/en/permalink/provcat43400
Takeshi Kaneko, editor.
--Singapore:
Springer
, c2018.
- Available Online
- View e-Book
- Location
- Online
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…
- Available Online
- View e-Book
- Other Authors
- 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
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
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.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
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…
- Available Online
- View e-Book
- 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.
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
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.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- 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.
- Format
- e-Book
- Location
- Online
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.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
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…
- Available Online
- View e-Book
- 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.
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
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.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- 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
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.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
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
- 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.
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
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.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
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.
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
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.
- Available Online
- View e-Book
- Location
- Online
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…
- Available Online
- View e-Book
- 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
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
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- 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
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
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- 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
Medical genetics
https://libcat.nshealth.ca/en/permalink/provcat50913
Jorde, Lynn.
(6th ed.)
--Philadelphia, PA:
Elsevier
, 2020.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- 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
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
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
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
- 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
Textbook of Autoinflammation
https://libcat.nshealth.ca/en/permalink/provcat44144
Philip J. Hashkes, Ronald M. Laxer, Anna Simon, editors.
--Cham:
Springer
, 2019.
- Available Online
- View e-Book
- 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
