کتابچه راهنمای ژنتیک و ژنومیک بالینی بزرگسالان Handbook of Clinical Adult Genetics and Genomics_ A Practice-based Approach

فهرست مطالب: List of contributors xv Foreword xxi Preface xxiii Section I The Practice of Adult Genetics 1 1. Introduction to the practice of adult genetics 3 SHWETA U. DHAR Overview of the field of adult genetics 3 Why is it necessary to learn more about this? 3 How are we teaching our medical students? 5 How are we training our genetics residents? 5 Who will impart genetic care to adult patients? 5 Why do we need a book like this? 6 References 6 2. Basic concepts of genetics and genomics 9 JENNIFER E. POSEY Introduction 9 Functional elements of the human genome 9 Human genomic variation 12 Modes of inheritance 14 Relevance to clinical care 18 References 19 3. Genetic evaluation of an adult 21 AERON M. SMALL, MONICA GIOVANNI AND MICHAEL F. MURRAY Introduction 21 Approach to the patient 21 Understanding the family context 24 How to apply diagnostic DNA technologies 26 Understanding the genetic and genomic contribution to disease 27 Follow-up and management 28 References 29 4. Genetic counseling for adults 31 TANYA N. EBLE, WENDY R. UHLMANN AND LAUREN E. HIPP Introduction 31 Finding healthcare providers with genetics expertise 31 Resources for patients and clinicians 32 Principles of genetic counseling in the evaluation of adults 32 Unique considerations for genetics evaluation and testing in adults 37 Case management for adults 39 References 40 5. Genetic testing in adults 43 SANDESH C.S. NAGAMANI AND JILL A. ROSENFELD Introduction 43 Basic principles and practical approach to genetic testing in adults 44 Cytogenetic testing 44 Sequencing tests 48 Other tests 50 Variant interpretation 51 Genome sequencing 53 Direct-to-consumer testing 54 Clinical vignettes 54 References 56 6. Transitioning to adult care 59 JOHN CHRISTOPHER BERENS, MARIA BLAZO AND CYNTHIA PEACOCK Introduction 59 Psychosocial considerations 60 Education and employment 62 Health insurance 64 Medical decision-making and guardianship 65 Transition planning 66 Conclusion 68 References 68 7. Preconception and prenatal care 71 SANDRA DARILEK, SARAH HUGUENARD AND IGNATIA B. VAN DEN VEYVER Introduction 71 Reproductive Carrier Screening 71 Maternal screening for fetal aneuploidy 73 Prenatal diagnostic testing 75 Preimplantation genetic testing 76 Parental genetic disease and reproduction 78 References 80 Section II Genetic disorders in adults 83 8. Cancer syndromes 85 SHWETA U. DHAR AND HUMA RANA Introduction 85 Evaluation for a hereditary cancer syndrome 86 BAP1 tumor predisposition syndrome 92 Birt Hogg Dube 93 DICER1-related pleuropulmonary blastoma familial tumor and dysplasia syndrome 94 Familial atypical multiple mole melanoma syndrome 95 Hereditary breast and ovarian cancer syndrome 96 Hereditary leiomyomatosis and renal cell carcinoma 100 Hereditary paraganglioma and pheochromocytoma 101 LiFraumeni syndrome 102 Prostate cancer syndrome 104 PTEN hamartoma tumor syndrome includes Cowden syndrome, BannayanRileyRuvalcaba syndrome 105 References 108 9. Cardiac disorders 109 JEFFREY ADDISON, LUISA MESTRONI AND MATTHEW R.G. TAYLOR Introduction 109 Cardiomyopathies 109 Inherited arrhythmogenic disorders 116 Tranthyretin amyloidosis 122 References 124 10. Hereditary connective tissue disorders 127 DAVID R. MURDOCK, HARRY C. DIETZ III AND GRETCHEN MACCARRICK Introduction 127 Conditions with a primary vascular phenotype or aortopathy 128 Conditions with musculoskeletal and skin manifestations 137 Other conditions with phenotypic overlap 143 References 144 11. Disorders that impact reproduction 147 J. SCOTT GABRIELSEN AND DOLORES J. LAMB Introduction 147 Disorders that impact male fertility 148 Disorders that impact female fertility 151 Disorders that impact both male and female fertility 153 Disorders of sex development 156 References 161 12. Endocrine disorders 163 DINA WINOGRAD, AVNI MODY, ASHOK BALASUBRAMANYAM AND SUSAN L. SAMSON Introduction 163 Monogenic causes of DM 163 Genetic syndromes affecting multiple endocrine glands 168 Genetic disorders of calcium metabolism 174 Genetic disorders caused by Gs-alpha subunit 176 Genetic disorders affecting the adrenal glands 179 References 182 13. Gastrointestinal disorders 185 JENNIFER WEISS, ANNA ZAKAS AND JESSICA HAUSE Introduction 185 Diseases of the Colon 185 Diseases of the Stomach 195 Diseases of the Pancreas 199 Diseases of the Liver 205 References 210 14. Hematological disorders 213 SARVARI YELLAPRAGADA AND KATIE LEE BERGSTROM Introduction 213 Bleeding disorders 213 Bone marrow failure disorders 218 Thrombophilia 219 Red cell defects 221 Hematological malignancies 227 References 229 15. Immunologic disorders 231 WOJCIECH WISZNIEWSKI Introduction 231 Disorders with antibody deficiency 233 Disorders with T-cell deficiency 239 Complement deficiencies 242 Autoinflamatory disorders 244 References 246 16. Intellectual and developmental disabilities 249 JAIME VENGOECHEA AND AIXA GONZALEZ GARCIA Introduction 249 Syndromic intellectual disability 252 Nonsyndromic intellectual disability 257 Conclusion 257 References 258 17. Metabolic disorders 261 LINDSAY BURRAGE AND RONIT MAROM Introduction 261 Metabolic stroke 267 Neuropsychiatric symptoms 270 Rhabdomyolysis 274 Peripheral neuropathy 276 References 280 18. Mitochondrial disorders 283 JAYA GANESH AND FERNANDO SCAGLIA Introduction 283 Evaluation of mitochondrial disorders 285 Genetic testing 294 Genetic counseling 299 References 300 19. Neurologic disorders 305 FUKI M. HISAMA AND THOMAS D. BIRD Introduction 305 Neurogenetic disorders 306 Movement disorders 306 Motor neuron and neuromuscular diseases 311 Dementias 316 Paroxysmal disorders 320 References 323 20. Pulmonary disorders 325 SHWETA U. DHAR AND SANDESH C.S. NAGAMANI Introduction 325 Obstructive lung disease 325 Restrictive lung disease 330 Spontaneous pneumothorax 332 Vascular disorders 333 Lung cancer 336 References 337 21. Psychiatric disorders 339 MEGAN E. TUCKER Introduction 339 Mental health conditions 340 Genetic conditions associated with an increased risk for mental illness 342 References 351 22. Renal disorders 353 MIR REZA BEKHEIRNIA AND NASIM BEKHEIRNIA Introduction 353 Cystic renal diseases 353 Inherited glomerulopathies 356 Common genetic disorders with renal involvement 361 Hereditary renal cell carcinoma 363 Genomic medicine in adult nephrology 366 References 366 23. Skeletal disorders 369 SANDESH C.S. NAGAMANI AND BRENDAN LEE Introduction 369 GSDs that present with altered BMD 370 GSDs with abnormal bone mineralization 375 FGFR3-related chondrodysplasia 377 References 379 24. Skin disorders 381 KRYSTAL M. JONES AND MOISE L. LEVY Introduction 381 Pigmentation disorders 381 Photosensitivity disorders 386 The porphyrias 389 Neurocutaneous disorders 392 Disorders of the epidermis 396 Vascular anomalies 401 References 403 Section III Access to Genetic Services 405 25. Billing and reimbursement 407 DAVID FLANNERY AND ADNAN ALSADAH Introduction 407 Referral to a clinical genetic service 407 CPT coding for clinical services 408 Documentation 409 New payment models 411 Billing for clinical services 411 Billing for genetic laboratory services 413 References 416 26. Telegenetics and other care models 417 EDWARD D. ESPLIN, RUTH K. ABRAMSON AND DAVID FLANNERY Introduction 417 Use of Telemedicine/Telehealth in adult genetics 418 Equipment and technology for telegenetic services 421 Software applications (commonly known as apps) 421 Use of telegenetic services to support rural health providers 422 E-consults and videoconsults 422 Commercial use of telegenetics 423 Standards and regulatory policy applicable to TM for genetic services 424 Billing and reimbursement for TM services 426 Conclusions 427 References 428 27. Ethical, Legal, and Social Implications 431 CHRISTI J. GUERRINI, AMY L. MCGUIRE AND GABRIEL LAZARO-MUNOZ Introduction 431 Decision-making and informed consent 432 Disclosure of results 435 Privacy and discrimination 438 References 441 Section IV Future Directions 443 28. Precision medicine in the genomic era 445 TREVOR D. HADLEY AND SANDESH C.S. NAGAMANI Introduction 445 Precision medicine initiative 446 Applicability of precision medicine in the clinic 446 Direct-to-consumer genetic testing and precision medicine 449 Challenges and future directions 450 References 451 29. Pharmacogenomics 453 LILEI ZHANG AND KEVIN E. GLINTON Introduction 453 Clinical applications of pharmacogenomics 453 Clinical resources and adaptation of pharmacogenomics 458 Challenges and future directions 459 References 461 30. Gene therapy and gene editing 463 NICOLA BRUNETTI-PIERRI Introduction 463 Gene therapy strategies and vectors 463 Ex vivo gene therapy 464 In vivo gene therapy 466 Genome editing 471 Current status, future challenges, and conclusions 473 References 474 Index 479 مشخصات فایل
عنوان (Title):	Handbook of Clinical Adult Genetics and Genomics_ A Practice-based Approach
نام فایل (File name):	596-www.GeneProtocols.ir-Handbook of Clinical Adult Genetics and Genomics_ A Practice-based Approach(2020).pdf
نام فارسی فایل (Title in Persian):	کتابچه راهنمای ژنتیک و ژنومیک بالینی بزرگسالان _ رویکرد عملی
ایجاد کننده:	Shweta Dhar (editor), Sandesh Sreenath Chakravarthy Nagamani (editor), Tanya Eble (editor)
زبان (Language):	انگلیسی English
سال انتشار:	2020
شابک ISBN:	0128173440, 9780128173442
نوع سند (Doc. type):	کتاب
فرمت (File extention):	PDF
حجم فایل (File size):	7.76
تعداد صفحات (Book length in pages):	508