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Human Genetics in Nursing
Suresh K Sharma
CHAPTER 1:
Introduction
CONCEPT OF GENETICS
BASIC GENETIC TERMS
PRACTICAL APPLICATIONS OF GENETICS IN NURSING
IMPACT OF GENETIC CONDITIONS ON FAMILIES
Factors influencing the Impact of Genetic Conditions on Families
Role of Nurses in Managing the Impact of Genetic Conditions on Families
REVIEW OF CELLULAR DIVISION
Cell Cycle
M phase
Interphase
G0 Phase
MITOSIS
Phases of Mitosis
MEIOSIS
Process
Meiosis-phases
Meiosis-I
Prophase I
Synchronous Processes
Metaphase-I
Anaphase-I
Telophase-I
Meiosis II
Regulation of Cell Division and Growth
CHARACTERISTICS AND STRUCTURE OF GENES
Type of Genes
Functions of Genes
Nucleic Acid
Deoxyribonucleic Acid (DNA)
Ribonucleic Acid (RNA)
Biological Role of RNA
Comparison of RNA and DNA
Synthesis of RNA
DNA Replication
PROTEIN BIOSYNTHESIS
GENETIC CODE
NAMING GENES
CHROMOSOME
Functions of Chromosome
CHROMOSOMES—SEX DETERMINATION
Chromosomal Determination of Sex
Sex of Offspring (Fig. 1.25)
CHROMOSOMAL ABERRATIONS (CHROMOSOMAL MUTATION)
Incidence
MECHANISM OF INHERITANCE
LAWS OF INHERITANCE
MENDELIAN THEORY OF INHERITANCE
PATTERNS OF INHERITANCE
AUTOSOMAL DOMINANT
AUTOSOMAL RECESSIVE
SEX-LINKED INHERITANCE
CODOMINANT PATTERN OF INHERITANCE
MITOCHONDRIAL PATTERN OF INHERITANCE
Example
MULTIFACTORIAL PATTERN OF INHERITANCE
Examples
FACTS ABOUT TRANSMISSION OF GENETIC DISORDERS
MULTIPLE ALLELES AND BLOOD GROUPS
Multiple Alleles
Blood Group System
ABO Blood Group System
The Rhesus (Rh) System
GENE MUTATION (ERRORS OF TRANSMISSION)
Causes of Gene Mutation
Types or Mechanism of Gene Mutation
EFFECT OF GENE MUTATIONS ON HEALTH AND DEVELOPMENT
REDUCED PENETRANCE AND VARIABLE EXPRESSIVITY
ANTICIPATION
CHAPTER 2:
Emerging Paradigm of Genetics in Nursing
GENETIC NURSING PRACTICE MILESTONES
ROLE OF NURSES IN GENETICS
IMPORTANCE OF GENETICS IN NURSING CURRICULUM
BARRIERS AND APPROACHES FOR IMPLEMENTATION OF GENETICS IN NURSING
ASSUMPTIONS REGARDING GENETICS AND HEALTH CARE IN FUTURE
CHAPTER 3:
Maternal and Prenatal Genetics
GENETICS AND INFECTION
Toxoplasmosis
Varicella
Mumps
Measles (Rubeola)
HIV/AIDS Infection
Syphilis
Rubella
Cytomegalovirus (CMV)
Herpes Simplex Virus (HSV)
Fifth Disease (Erythema Infectiosum)
Bacterial Infection
Role of Nurses
CONSANGUINITY ATOPY
Genetic Aspect of Consanguinity
Negative Effects of Consanguinity
Role of Nurses
PRENATAL NUTRITION AND FOOD ALLERGIES
Facts of Prenatal Nutrition and Food Allergies in Children
Prevention of Food Allergy
ROLE OF PRENATAL NUTRITION IN PREVENTION OF GENETIC DISORDERS
MATERNAL AGE
Genetic Aspect of Advanced Maternal Age
Role of Nurses
MATERNAL DRUG THERAPY
Role of Nurses
EFFECTS OF RADIATIONS, DRUGS AND CHEMICALS
Effects of Chemicals and Drugs
Role of Nurses
Effects of Radiations
Genetic Aspect of Radiations
Effect of Medical Radiation Procedures
Radiation Exposure and Termination of Pregnancy
Role of Nurses
PRENATAL TESTING AND DIAGNOSIS
Purposes of Prenatal Diagnosis
Indications for Prenatal Testing and Diagnosis
Prenatal Screening
Types of Prenatal Testing and Diagnosis
NON-INVASIVE TESTS
Ultrasound (Fig. 3.5)
Fetal Echocardiography (Fig. 3.6)
Fetal Radiology
INVASIVE TESTS
Amniocentesis (Fig. 3.7)
Indications for Amniocentesis
Procedure of Amniocentesis
Diagnostic Testing of Amniotic Fluid
Risks and Complications of Amniocentesis
CHORIONIC VILLUS SAMPLING (CVS)
Indications
Contraindications
Procedure and Practical Points
Risk and Complications
FETAL BLOOD SAMPLING (FBS)
Indications
Procedure of Blood Sampling
Risks and Complications
MATERNAL BLOOD TESTS
FETAL TISSUE SAMPLING
FETOSCOPY
PREIMPLANTATION PRENATAL DIAGNOSIS
Indications of PGD
Genetic Analysis Techniques of PGD
Ethical Issues of Prenatal Testing
Role of Nurses
INFERTILITY
Subfertility
Primary vs Secondary Infertility
Causes
Genetic Basis of Infertility
Genetic Diseases Resulting in Infertility
Genetic Conditions with Pre-testicular Effects
Genetic Conditions with Testicular Effects
Genetic Conditions with Post-testicular Effects
Diagnosis of Infertility
Medical Management of Infertility
Role of Nurses
SPONTANEOUS ABORTIONS
Types of Spontaneous Abortions
Etiology
Genetic Causes
Maternal Health Issues
Environment
Clinical Manifestations
Diagnosis of Spontaneous Abortion
Management of Spontaneous Abortion
Role of Nurses
NEURAL TUBE DEFECTS (NTD)
Epidemiology
Risk Factors
Presentation and Management
Cranial Dysraphism
Spinal Dysraphism
Prenatal Screening
Investigations
Management
Complications
Role of Nurses
DOWN SYNDROME
Risk Factors
Clinical Manifestation
Prenatal Screening and Diagnosis
Role of Nurses
CHAPTER 4:
Neonatal and Children Testing or Screening
MEANING AND PURPOSE
NEWBORN SCREENING
Important Elements in Newborn Screening
Common Disorders can be Screened in Newborns
GENETIC TESTING AND SCREENING IN CHILDREN
Approach to Genetic Testing in Children
Category I
Category II
Category III and IV
Should Children be Tested/Screened?
CONGENITAL ABNORMALITIES
Types
Causes
Genetic Testing/Screening
Management
DEVELOPMENTAL DELAY
Risk Factors for Developmental Delay
Warning Signs of a Developmental Delay
Screening of Developmental Delay
Battelle Developmental Inventory Screening Test (BDIST)
Bayley Infant Neurodevelopmental Screener (BINS)
Child Development Inventories (CDI)
The Denver Developmental Screening Test (DDST)
Early Intervention Services for Developmental Delay
DYSMORPHISM
Types of Dysmorphism
Etiology
Common Dysmorphic Syndromes
Genetic Testing/Screening
Management
Role of Nurses in Genetic Testing for Neonates and Children
CHAPTER 5:
Genetic Conditions of Adolescents and Adults
GENETIC STATISTICS
NAMING GENETIC CONDITIONS
COMMON GENETIC CONDITIONS DISCUSSED IN CHAPTER
CANCER GENETICS: FAMILIAL CANCER
Familial Cancer
Family Cancer-Predisposing Syndrome
Genetic Testing
Management of Familial Cancer
Cancer Gene Therapy
Chemoprevention
Risk-Reducing Surgery
INBORN ERRORS OF METABOLISM (IEM)
Classification of Inborn Errors of Metabolism
Clinical Manifestations
Diagnosis
Management
Phenylketonuria
Clinical Manifestations
Diagnosis (Screening)
Treatment
Maple Syrup Urine Disease
Clinical Manifestations
Diagnosis
Management
Gaucher's Syndrome
Clinical Manifestations
Type 1: Gaucher Disease
Type 2: Gaucher Disease
Type 3: Gaucher Disease
Diagnosis
General Assessment
Complications
Management
BLOOD GROUP ALLELES AND HEMATOLOGICAL DISORDERS
Blood Group Alleles
Hematological Disorders
Hemolytic Anemia
Hereditary Coagulopathies
HEMOLYTIC DISEASE OF NEWBORN
Pathogenesis
Clinical Manifestation
Management
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
Signs and Symptoms
Diagnosis
Treatment
HEREDITARY SPHEROCYTOSIS
Pathogenesis
Clinical Manifestations
Diagnosis
Management
THALASSEMIA
Alpha Thalassemia
Beta Thalassemia
Clinical Manifestations
Diagnosis
Blood
Imaging
Other Tests
Staging
Complications
Management
SICKLE-CELL ANEMIA
Causes and Pathology Sickle Cell Anemia
Sickle Cell Trait
Inheritance Pattern
Clinical Manifestations
Diagnosis
Complications of Sickle Cell Anemia
Management
BLACKFAN-DIAMOND ANEMIA
HEMOPHILIA
Types and Causes
Inheritance Pattern and Genetic Pathology
Clinical Manifestations
Diagnosis
Management
VON WILLEBRAND DISEASE (VWD)
Types of von Willebrand Disease
Inheritance Pattern and Genetic Pathology
Clinical Manifestations
Diagnosis
Management
Specific Treatments
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA (CAMT)
GENETIC HEMOCHROMATOSIS
Etiology and Genetic Basis
Inheritance Pattern
Clinical Manifestations
Factors affecting Clinical Presentation
Diagnosis
Management
HUNTINGTON'S DISEASE
Genetic Basis
Inheritance Pattern
Clinical Manifestations
Diagnosis
Management
MENTAL ILLNESS
Causes of Mental Illness
Genetics of Depression
Genetics of Schizophrenia
Genetics of Bipolar Disorder
Genetic Testing in Mental Illnesses
Management
THERAPEUTIC APPROACHES FOR GENETIC DISORDERS
NURSING MANAGEMENT IN GENETIC DISORDERS
Assessment
Nursing Diagnosis, Outcomes, and Interventions
Nursing Diagnosis
Expected Outcomes
Nursing Interventions
Nursing Diagnosis
Expected Outcomes
Nursing Interventions
Nursing Diagnosis
Expected Outcomes
Nursing Interventions
Nursing Diagnosis
Expected outcomes
Nursing Interventions
Nursing Diagnosis
Expected Outcomes
Nursing Interventions
Nursing Diagnosis
Expected Outcomes
Nursing Interventions
Nursing Diagnosis
Expected Outcomes
Nursing Interventions
Nursing Diagnosis
Expected Outcomes
Nursing Interventions
Nursing Diagnosis
Expected Outcomes
Nursing Interventions
Nursing Diagnosis
Expected Outcomes
Nursing Interventions
CHAPTER 6:
Services Related to Genetics
GENETIC TESTING
Purposes of Genetic Testing
Types of Genetic Testing
Benefits of Genetic Testing
Negative Outcomes of Genetic Testing
Interpreting Genetic Test Results
Ethical, Legal, and Social Issues in Genetic Testing
Role of Nurses in Genetic Testing
HUMAN GENOME PROJECT
Meaning and Importance of Genome
Goals of Human Genome Project
Accomplishments of Human Genome Project
Ethical, Legal, and Social Implications of Human Genome Project
Nursing and the Human Genome Project
GENOMIC ERA
Significant Advancement in Genomic Era
Negative Aspects of Genomic Era
Positive Aspects of Genomic Era
GENE THERAPY
Types of Gene Therapy
Somatic Gene Therapy
Germ Line Gene Therapy
Approaches of Gene Therapy
Vectors used in Gene Therapy
Shortcomings of Gene Therapy
Facts of Gene Therapy
Pharmacological Gene Therapy
Ethical Issues Regarding Gene Therapy
Role of Nurses in Gene Therapy
THE EUGENIC MOVEMENT
Purpose of Eugenic Movements
Types of Eugenic Movement
GENETIC COUNSELING
Purpose of Genetic Counseling
Beneficiaries of Genetic Counseling
Phases of Genetic Counseling
ROLE OF NURSES IN GENETIC COUNSELING
PHARMACOGENOMICS
FURTHER READING
Glossary
TERMS RELATED TO CHROMOSOMES AND INHERITANCE
TERMS RELATED TO HUMAN PROJECT
INDEX
TOC
Index
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