Clinical Genetics and Genomics at a Glance
At a Glance
1. Auflage August 2023
180 Seiten, Softcover
Lehrbuch
Comprehensive and accessible overview of genetics in clinical practice with a unique systems-based approach
Clinical Genetics and Genomics at a Glance combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions.
Using the popular "at a Glance" format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond.
Clinical Genetics and Genomics at a Glance uses a systemic approach following all the systems in the body:
* General topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counselling
* Chapters on key conditions with a genetic basis, organised by body systems, for example:
* Cardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac death
* Dermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosa
* Endocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus
Clinical Genetics and Genomics at a Glance is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.
Foreword
Preface
Part 1 Introduction
1 What is Clinical Genetics and Genomic medicine?
2 Inheritance
3 Cytogenetic & Molecular genetic techniques
4 How to read a genetic test report
5 Genetic Counselling
Part 2 Cardiology
6 Structure and Congenital Heart Disease
7 Ischamic Heart Disease
8 Cardiomyopthies
9 Arrhythmias and Sudden Cardiac Death
Part 3 Dermatology
10 Tuberous Sclerosis
11 Gorlin syndrome
12 Dariers Disease
13 Lamellar Icthyosis
14 Mal De Meleda
15 Cutaneous Porphyria
16 Epidermolysis Bullosa
17 Cowden syndrome and Cowden-like syndrome
18 Muir-Torre Syndrome
18 X-linked Icthyosis
20 Birt-Hogg-Dube
Part 4 Endocrinology
21 Disorders of sexual development and differentiation
22 Congenital adrenal hyperplasia
23 Androgen Insensitivity Syndrome
24 Klinefelters syndrome
25 Turners Syndrome
26 Diabetes Mellitus
27 Diabetes Insipidus
28 Fabry-Anderson
Part 5 Metabolic
29 Introduction to the genetics of metabolic disorders
30 Overview of disorders of amino acid metabolism
31 Overview of disorders of carbohydrate metabolism
32 Overview of disorders of lipid metabolism
33 Overview of peroxisomal disorders
34 Disorders of purine and pyrimidine metabolism
Part 6 Gastroenterology
35 IBD
36 Wilsons
37 Heamochromatosis
38 Coeliac Disease
39 Pancreatic cancer
Part 7 Haematology
40 Malignant Haematology
41 Non malignanat Haematology
Part 8 Immunology
42 Severe combined immunodeficiency
43 DNA repair defects
44 Congenital abnormalities affecting the development of the thymus
45 Common variable immunodeficiency
46 X-linked (and autosomal recessive) agammaglobulinaemia
47 Wiskott-Aldrich syndrome
48 Hyperimmunoglobulin M syndromes
49 Hyperimmunoglobulin E syndrome
50 Chronic mucocutaneous candidiasis
51 Genetic disorders associated with immune dysregulation and/or autoimmunity
52 Genetic disorders associated with familial haemophagocytic lymphohistiocytosis
53 Mendelian susceptibility to mycobacterial disease
54 Chronic granulomatous disease
55 Defects in leukocyte migration
56 Defects of Toll like receptors and their signalling pathways
57 Complement deficiencies
58 Autoinflammatory diseases and periodic fever syndromes
Part 9 Neurology
59 SMA
60 MND/ALS
61 Fragile X
62 HD
63 Dementia
64 Parkinsons
65 Myotonic dystrophy
Part 10 Paediatrics and Obstetrics
66 Fetal anomaly screening
67 Prenatal diagnostic testing and Preimplantation Genetic Diagnosis
68 Edwards ' Syndrome
69 Patau syndrome
70 Williams syndrome
71 Di George syndrome
Part 11 Oncology
72 Introduction to Cancer
73 Neurofibromatosis
74 Urological Cancers
75 Peutz-Jegher Syndrome
76 Von Hippel-Lindau
77 Inherited Bowel (Lower GI) Cancers
78 Inherited upper GI cancers
79 Inherited Breast Cancer
80 Retinoblastoma
81 Multiple Endocrine Neoplasia
Part 12 Opthalmology
82 Congential and Childhood Cataracts
83 Colour blindness and Achromatopsia
84 Retinitis Pigmentosa
85 Primary Congential Glaucoma
86 Bardet-Biedl Syndrome
Part 13 Renal
87 PCKD
88 Nephronophthisis
89 Medullary cystic kidney disease
90 Tuberous sclerosis
91 von Hippel-Lindau
92 Alport syndrome
93 Cystinosis
94 Cystinuria
Part 14 MSK
95 Marfans
96 EDS
97 Congenital Limb Deficiencies
98 DMD
99 Charcot-Marie-Tooth (CMT)
100 Ankylosing Spondylitis
101 Skeletal dysplasias
Glossary
Index
Mr Kunal Kulkarni, Senior Clinical Hand Fellow, Pulvertaft Hand Centre, University Hospitals of Derby and Burton NHS Foundation Trust. Mr Kulkarni is a post-CCT Trauma and Orthopaedic Surgeon. He qualified from the University of Oxford and has since completed his postgraduate training across Oxford, London, and the East Midlands. Through his paediatric orthopaedic training, coupled with a sub-specialist interest in Hand and Wrist surgery, he has developed an interest in the role of genetics in musculoskeletal development and pathology. He has a keen interest in both, undergraduate and post-graduate teaching, and serving as active faculty on a number of university and national courses. He has authored two textbooks, with a further two in press, alongside a number of peer-reviewed publications. For the past 15 years he has also run a free educational website for medical students.
Professor Julian G Barwell, Consultant in Clinical Genetics and honorary professor in genomic medicine, University Hospitals of Leicester NHS Trust. Dr Julian Barwell is a consultant in clinical genetics, division 3 clinical lead for the East Midlands Clinical Research Network and an honorary professor in Genomic Medicine at the University Hospitals of Leicester. He has a particular interest in the development and implementation of new digital and genomic technologies into 21st century healthcare.
Professor Pradeep C Vasudevan, Consultant in Clinical Genetics and honorary professor, University of Leicester. He qualified from University of Kerala in 1995. He underwent training in Clinical genetics and Paediatrics at Oxford and Sheffield and joined as a consultant in Clinical Genetics at University Hospitals of Leicester in 2006. He is the Head of Clinical Genetics service at Leicester since 2010 and a honorary professor in department of Genetics at University of Leicester and was also awarded visiting Professorship at Hubei University of medicine, China.
Dr Huw R Dorkins, Consultant in Clinical Genetics, University Hospitals of Leicester. Huw R Dorkins is Fellow and Tutor in Medicine at St Peter's College, University of Oxford where he is also Senior Tutor. He is dually accredited in medical and molecular genetics, and a Fellow of the Royal College of Physicians of London and of the Royal College of Pathologists. He trained in Oxford and has held consultant appointments in London and Leicester. He has served as President of the Medical Genetics section of the Royal Society of Medicine. His interests are in neurogenetics, cancer genetics and medical education. He is Editor in Chief of the Journal of Medical Genetics.
