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Genetics for nurses /

Genetics for Nurses has been designed considering the syllabi requirements laid down by the Indian Nursing Council and the leading nursing colleges. The book has a variety of case studies and review questions to support the theoretical concepts and is an unique offering to the undergraduate students...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Parvathi, V. Deepa
Formato: Electrónico eBook
Idioma:Inglés
Publicado: New Delhi : Dorling Kindersley (India)/Pearson, ©2013.
Colección:Always learning.
Temas:
Acceso en línea:Texto completo (Requiere registro previo con correo institucional)
Tabla de Contenidos:
  • Cover
  • Contents
  • Foreword
  • Preface
  • Acknowledgements
  • About the Author
  • Chapter 1: Practical Application of Genetics in Nursing and Roles of a Nurse
  • Roles of a Nurse
  • Career Focus
  • Review Question
  • Chapter 2: Review of Cellular Division: Mitosis and Meiosis
  • Introduction to Prokaryotic and Eukaryotic Cell
  • Shape
  • Size
  • Number
  • Cell wall
  • Plasma membrane
  • Cytoplasm
  • Nucleus
  • Cell Division
  • An Overview of the Cell Cycle
  • The Mechanics of Cell Division
  • An overview of the M phase
  • Cytoskeletal machines perform both mitosis and cytokinesis
  • Two mechanisms help ensure that mitosis always precedes cytokinesis
  • Mitosis in Detail
  • Prophase
  • Prometaphase
  • Metaphase
  • Anaphase
  • Telophase
  • Cytokinesis
  • Meiosis
  • Introduction
  • Meiosis I
  • Interphase I
  • Prophase I
  • Leptotene
  • Zygotene
  • Pachytene
  • Diplotene
  • Diakinesis
  • Metaphase I
  • Anaphase I
  • Telophase I
  • Meiosis II
  • Interphase II
  • Prophase II
  • Metaphase II
  • Anaphase II
  • Review Questions
  • Chapter 3: Structure and Organization of Genetic Material
  • Characteristics and Structure of DNA and Chromosomes-DNA Packaging and Chromosome Condensation
  • Structure of chromosomes
  • Chromosomal DNA and its packaging in the chromatin fibre
  • Eukaryotic DNA is packaged into a set of chromosomes
  • Nucleosomes are the basic unit of eukaryotic chromosome structure
  • Forms of chromosomes-metacentric, submetacentric, and acrocentric
  • Chromosomes and Sex Determination
  • XX-XY sex determination in humans
  • The role of sex chromosomes in phenotype and fertility
  • Review Questions
  • Chapter 4: Errors in Transmission
  • Overview of Chromosome Morphology
  • Types of chromosome mutations
  • Structural chromosomal abnormalities
  • Chromosome rearrangements
  • Duplications
  • Deletions
  • Inversions
  • Translocations.
  • Numerical chromosomal abnormalities
  • Aneuploidy
  • Types of Aneuploidy
  • Aneuploidy in humans
  • Polyploidy
  • Chromosome mutations and cancer
  • Review Questions
  • Chapter 5: Classical Genetics: Mendelian Theory of Inheritance
  • Principles of Genetics: Mendelian Principles
  • Early life of Johann Gregor Mendel (1822-1884)
  • Mendel's Experimental Organism: the Pea Plant
  • Mendel's Experiment: Monohybrid and Dihybrid Crosses
  • Monohybrid cross
  • Mendel's conclusions from the monohybrid cross
  • Dihybrid cross and the principle of independent assortment
  • Review Questions
  • Chapter 6: Patterns and Mechanisms of Inheritance in Humans
  • Pedigree
  • Patterns of Inheritance in Humans
  • Autosomal dominant inheritance
  • Autosomal recessive inheritance
  • X-linked dominant inheritance
  • X-linked recessive inheritance
  • Y-linked inheritance
  • Mitochondrial inheritance
  • Multifactorial inheritance
  • Review Questions
  • Chapter 7: Multiple Alleles and Blood Groups
  • The ABO Blood Group
  • Function of IA, IB and i Alleles of the ABO Gene
  • Other Genetic Systems that Exhibit Multiple Allelism
  • Review Questions
  • Chapter 8: Prenatal Nutrition
  • Maternal Nutritional Status
  • Nutritional supplementation during pregnancy
  • Physiological changes during pregnancy
  • Nutritional requirements during pregnancy
  • Food Allergies
  • Symptoms
  • Some common food allergies
  • Diagnostic test available for food allergies
  • Review Questions
  • Chapter 9: Conditions Affecting the Mother
  • Infections During Pregnancy
  • Bacterial infections
  • Group B beta-hemolytic streptococci (GBS)
  • Group A beta-hemolytic streptococcus
  • (Streptococcus pyogenes)
  • Listeria monocytogenes
  • Haemophilus influenzae
  • Escherichia coli
  • Viral infections
  • Rubella
  • Cytomegalovirus
  • Herpes simplex virus
  • Effect of Drugs, Chemicals and Radiation.
  • Effect of drugs
  • Anticonvulsant drugs
  • Phenytoin
  • Carbamazepine
  • Valproic acid
  • Antidepressants
  • Lithium
  • Isotretinoin
  • Coumarin derivatives
  • Effects of alcohol
  • Spontaneous abortion and stillbirths
  • Low birth weight
  • Neurobehavioural and neural abnormality
  • Neural development
  • Prevention
  • Effect of chemicals
  • Effects of radiation
  • Radiobiology
  • Effects of ionizing radiation in pregnancy
  • Maternal Drug Therapy
  • Review Questions
  • Chapter 10: Genetic Testing and Diagnosis
  • Newborn Screening
  • Heterozygote Screening
  • Presymptomatic Testing
  • Prenatal Genetic Testing and Diagnosis
  • Indications for Prenatal Diagnosis (PND)
  • Methods of Prenatal Diagnosis
  • Principles of Screening Tests
  • Non-invasive Testing
  • Ultrasound diagnosis of foetal anomalies
  • Maternal serum screening
  • Triple screening
  • Foetal cell sorting
  • Invasive Testing
  • Amniocentesis
  • Chorionic villus sampling
  • Cordocentesis
  • Preimplantation genetic diagnosis
  • Review Questions
  • Chapter 11: Impact of Genetic Condition on Families and Genetic Counselling
  • Impact of Genetic Condition on Families
  • Genetic Counselling
  • Genetic services (Counselling and genetic diagnostic testing)
  • Presymptomatic testing
  • Carrier testing
  • Prenatal testing
  • Review Questions
  • Chapter 12: Consanguinity
  • Consanguineous Marriage and Risk of Inheriting Genetic Disorder
  • Review Questions
  • Chapter 13: Advanced Maternal Age
  • Aneuploidies and Advanced Maternal Age
  • Older egg model: In advanced maternal age
  • Trisomy
  • Monosomy
  • Mosaicism
  • Autosomal Aneuploidies
  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Sex Chromosome Aneuploidies
  • Monosomy X (Turner syndrome)
  • 47,XXY (Klinefelter syndrome)
  • Review Questions
  • Chapter 14: Down Syndrome (Trisomy 21)
  • Overview.
  • Genetics of Down Syndrome
  • Advanced Maternal Age in Down Syndrome
  • Characteristic Features/Phenotype of Down Syndrome
  • Medical Conditions Associated with Down Syndrome
  • Down Syndrome Management
  • Down Syndrome Diagnosis
  • Prenatal screening and diagnosis
  • Review Questions
  • Chapter 15: Infertility
  • Factors Affecting Fertility
  • Causes of Subfertility-Male and Female Subfertility
  • Male Subfertility
  • Clinical assessment
  • Treatment options for subfertile men
  • Female Subfertility
  • Chromosomal
  • Diagnosis of anovulatory subfertility
  • Management of anovulation
  • Tubal subfertility
  • Causes of tubal damage
  • Diagnosis of tubal subfertility
  • Endometriosis
  • Fibroids
  • Assisted Reproductive Techniques
  • Review Questions
  • Chapter 16: Spontaneous Abortion
  • Definition
  • Pathophysiology
  • Potential causes of spontaneous pregnancy loss
  • Mechanism of Abortion
  • Incidence
  • Clinical Types of Abortion
  • Threatened abortion
  • Inevitable abortion
  • Treatment
  • Incomplete abortion
  • Treatment
  • Complete abortion
  • Treatment
  • Missed abortion
  • Treatment
  • Septic abortion
  • Treatment
  • Risk of Recurrent Pregnancy Loss
  • Factors Involved in Recurrent Early Pregnancy Loss
  • Foetal death or disease
  • Genetic Factors
  • Skewed X chromosome inactivation (XCI)
  • Premature centromeric division
  • Non-genetic Factors
  • Anatomical factors
  • Endocrine factors
  • Infectious factors
  • Nutritional causes
  • Immunological factors
  • Miscellaneous Factors
  • Maternal factors
  • Male factors
  • Indian Scenario
  • Detection of recurrent abortions
  • Investigation for recurrent pregnancy loss
  • Review Questions
  • Chapter 17: Congenital Abnormalities, Dysmorphism, and Developmental Delay
  • Congenital Abnormalities (Birth Defects) and Dysmorphology
  • Clinical Dysmorphology-Classification of Foetal and Birth Defects.
  • Malformation
  • Deformation
  • Disruption
  • Dysplasia
  • Diagnostic Approach to the Dysmorphic Foetus
  • Single-system defect
  • Syndrome
  • Sequence/cascade
  • Teratology
  • Environmental risk parameters or modifiers
  • Basic Principles of Teratology
  • Developmental Milestones
  • Normal development
  • Developmental delay
  • Diagnosis
  • Identification
  • Developmental disorders
  • Learning disability (LD)
  • Attention deficit hyperactivity disorder (ADHD)-Behavioural disorder
  • Review Questions
  • Chapter 18: Neural Tube Defects
  • Screening of NTD with Maternal Serum Alpha-Fetoprotein (AFP)
  • Ultrasound Evaluation of NTDS
  • Prevention of NTD
  • Genetic Susceptibility for NTD and Folic Acid Intake
  • Fortification During Pregnancy
  • Review Questions
  • Chapter 19: The Nature of Cancer
  • Cancer as a Genetic Disease
  • The clonal evolution of tumours
  • The role of environment in cancer
  • Genes that contribute to cancer
  • DNA Repair Genes
  • Genes affecting chromosome segregation
  • Sequences that regulate telomerase
  • Genes that promote vascularization and the spread of tumours
  • Chromosome Mutations and Cancer
  • The Molecular Genetics of Colorectal Cancer
  • Review Questions
  • Chapter 20: Inborn Errors of Metabolism
  • Classification of Inherited Metabolic Diseases
  • Enzyme Defects (Aminoacidopathies)
  • Defects in Purine Metabolism (Lesch Nyhan Syndrome)
  • Lysosomal Storage Diseases
  • Tay Sach's disease
  • Mucopolysaccharidoses
  • Chapter 21: Haematological Disorders and Genetic Haemochromatosis
  • Haemoglobinopathies
  • Haemolytic anemias-Sickle cell disease
  • Thalassemia
  • Alpha thalassemias
  • Beta thalassemias
  • Genetic Haemochromatosis (GH)
  • Review Questions
  • Chapter 22: Mental Illness/Mental Disorder
  • Normal Mental Health
  • Diagnosis
  • Management options
  • Review Questions
  • Chapter 23: The Human Genome Project.