Concise Paediatrics, Second Edition

Rachel Sidwell, Mike Thomson

• Publisher: CRC Press
• Year: 2020
• ISBN:
  9781000083262
• Edition: 2
• Topic: Medicine
• Subtopic: Medical Theory, Practice & Reference

Concise Paediatrics, Second Edition is essential reading for all postgraduates training in paediatrics, particularly when preparing for the MRCPCH exam, and for general practice trainees preparing for the DCH exam. As a comprehensive but concise reference to any condition they are likely to encounter on the wards or in the accident and em

1
Genetics

• Clinical application of genetics
• Basic cell genetics
• Mutations
• Techniques for DNA analysis and mutation detection
• Chromosomal disorders
• Single gene defects (Mendelian inheritance)
• Factors affecting inheritance patterns
• Multifactorial inheritance
• Dysmorphology

Clinical Application Of Genetics

Genetics is a rapidly advancing and fascinating field of medicine, which has particular relevance in paediatrics. Increasingly, medical genetics is becoming central to our understanding of many diseases, and not just rare disorders. A large proportion of paediatric admissions are due to genetic diseases, as are a large proportion (50%) of paediatric deaths.

Genetic Counselling

This involves:

• Making or confirming a diagnosis
• Discussing the natural history of the disorder and relevant management
• Discussing risks to other family members of developing or passing on the disorder
• Options for screening and prenatal diagnosis

Genetic Screening

Genetic screening is the search in a population for individuals possessing certain genotypes (variations of a specific gene) that:

• Are known to be associated with disease or predisposition to disease, or
• May lead to disease in their offspring

Disorders such as thalassaemia are amenable to population screening as the test can be performed by a buccal smear or blood test; the carrier frequency is common in specific populations; gene carriers themselves are not at increased risk of disease; and a specific prenatal test can be offered to couples identified to be at risk.

Genetic carrier testing is the search in at-risk individuals for a specific genotype known to be associated with disease in that family.

Prenatal Diagnosis

This involves both screening tests that give a probability of disease and diagnostic tests that give a definite diagnosis.

• Screening tests include the antenatal nuchal ultrasound scan (USS), which identifies a pregnancy at increased risk of Down syndrome, and then definitive testing via a chorionic villus biopsy (CVS) or amniocentesis may be offered.
• Diagnostic tests include DNA analysis of a fetal sample for DNA changes known to be associated with disease in that family, e.g. analysis of the cystic fibrosis gene in a CVS sample, where b...

Table of contents

• Cover
• Half Title
• Title Page
• Copyright Page
• Table of Contents
• Contributor
• Preface
• 1. Genetics
• 2. Immunology
• 3. Infectious diseases
• 4. Cardiology
• 5. Ear, nose and throat disorders
• 6. Respiratory disorders
• 7. Gastrointestinal disorders
• 8. Liver disorders
• 9. Renal disorders
• 10. Endocrinology, growth and puberty
• 11. Metabolic disorders
• 12. Dermatology
• 13. Rheumatic and musculoskeletal disorders
• 14. Neurological and neuromuscular disorders
• 15. Ophthalmology
• 16. Haematology
• 17. Oncology
• 18. Neonatology
• 19. Surgical conditions
• 20. Emergencies, accidents, non-accidental injury and the law
• Index