Podcast
Questions and Answers
What symptom is NOT typically associated with S&S kidney issues?
What symptom is NOT typically associated with S&S kidney issues?
- Hematuria
- Increased hair growth (correct)
- Frequent kidney infections
- Pain at costovertebral angles
Which of the following represents a characteristic of sex-linked inheritance in males?
Which of the following represents a characteristic of sex-linked inheritance in males?
- Males inherit only one X chromosome (correct)
- Males have two X chromosomes
- Males have no Y chromosome
- Males have two Y chromosomes
Which type of disorder is most commonly associated with sex-linked inheritance?
Which type of disorder is most commonly associated with sex-linked inheritance?
- Autosomal dominant disorders
- X-linked recessive disorders (correct)
- X-linked dominant disorders
- Y-linked disorders
What does the “big” letter signify in X-linked recessive notation?
What does the “big” letter signify in X-linked recessive notation?
What does the prefix 'Onco' signify in medical terminology?
What does the prefix 'Onco' signify in medical terminology?
Which of the following best describes multifactorial genetic disorders?
Which of the following best describes multifactorial genetic disorders?
Which of the following diseases is influenced by a mix of environmental and inherited components?
Which of the following diseases is influenced by a mix of environmental and inherited components?
What is a teratogen?
What is a teratogen?
Which condition is specifically a teratogenic disorder?
Which condition is specifically a teratogenic disorder?
Congenital defects can be attributed to:
Congenital defects can be attributed to:
What is the common term for chromosomal disorders?
What is the common term for chromosomal disorders?
Which factor contributed to 'thalidomide babies'?
Which factor contributed to 'thalidomide babies'?
What is the primary function of genes?
What is the primary function of genes?
What happens when there is a mutation in a gene?
What happens when there is a mutation in a gene?
What is the structure that carries genes within a cell?
What is the structure that carries genes within a cell?
How many chromosomes does a human inherit from each parent?
How many chromosomes does a human inherit from each parent?
Which of the following best describes a gene?
Which of the following best describes a gene?
What could be the potential outcome of a gene mutation affecting lactase?
What could be the potential outcome of a gene mutation affecting lactase?
In what shape does DNA take when it is visible as a chromosome?
In what shape does DNA take when it is visible as a chromosome?
What can be inferred when a gene coding for a functional protein is mutated?
What can be inferred when a gene coding for a functional protein is mutated?
What is the genotype of a person who inherits a sickle-cell disease gene from one parent and a normal Hgb-coding gene from the other parent?
What is the genotype of a person who inherits a sickle-cell disease gene from one parent and a normal Hgb-coding gene from the other parent?
What does it mean for an individual to be a carrier of sickle cell anemia?
What does it mean for an individual to be a carrier of sickle cell anemia?
Which genotype indicates a person who does not have sickle cell disease and cannot pass on the disease?
Which genotype indicates a person who does not have sickle cell disease and cannot pass on the disease?
What is the phenotype of a carrier who exhibits milder symptoms of sickle cell disease?
What is the phenotype of a carrier who exhibits milder symptoms of sickle cell disease?
In autosomal dominant disorders, which scenario is TRUE?
In autosomal dominant disorders, which scenario is TRUE?
Which statement is FALSE about the genotype Dd regarding sickle cell disease?
Which statement is FALSE about the genotype Dd regarding sickle cell disease?
What is an important characteristic of a person with genotype dd?
What is an important characteristic of a person with genotype dd?
What is the primary difference between autosomal dominant and autosomal recessive disorders?
What is the primary difference between autosomal dominant and autosomal recessive disorders?
What is the primary consequence of a deficiency of ATP in cells?
What is the primary consequence of a deficiency of ATP in cells?
Which pH range is considered normal for blood?
Which pH range is considered normal for blood?
What leads to acidosis during anaerobic metabolism?
What leads to acidosis during anaerobic metabolism?
How does the body typically counteract its natural tendency toward acidity?
How does the body typically counteract its natural tendency toward acidity?
What is a potential consequence of relying on gluconeogenesis during hypoxia?
What is a potential consequence of relying on gluconeogenesis during hypoxia?
Which of these is NOT a result of hypoxia?
Which of these is NOT a result of hypoxia?
What is the role of glycogen in cellular metabolism?
What is the role of glycogen in cellular metabolism?
What effect does anaerobic glycolysis have on the body's pH?
What effect does anaerobic glycolysis have on the body's pH?
What is one cause of metabolic alkalosis?
What is one cause of metabolic alkalosis?
Which condition is indicated by a low pH (< 7.35) associated with high CO2 retention?
Which condition is indicated by a low pH (< 7.35) associated with high CO2 retention?
How do the kidneys compensate for respiratory alkalosis?
How do the kidneys compensate for respiratory alkalosis?
What is a common psychological trigger for respiratory alkalosis?
What is a common psychological trigger for respiratory alkalosis?
During metabolic acidosis, what most commonly happens to the pH level?
During metabolic acidosis, what most commonly happens to the pH level?
What is the primary physiological cause of respiratory alkalosis?
What is the primary physiological cause of respiratory alkalosis?
Which of the following statements is true regarding metabolic alkalosis?
Which of the following statements is true regarding metabolic alkalosis?
What happens to the HCO3 levels during metabolic acidosis?
What happens to the HCO3 levels during metabolic acidosis?
Flashcards
Gene
Gene
A segment of DNA responsible for coding a specific protein, determining traits and characteristics.
Gene mutation
Gene mutation
A change in the sequence of nucleotides within a gene, leading to altered protein function.
Gene replication
Gene replication
The process of creating a copy of a gene.
Chromosome
Chromosome
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DNA helix
DNA helix
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Protein synthesis
Protein synthesis
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DNA
DNA
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Protein malfunction
Protein malfunction
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Multifactorial Genetic Disorder
Multifactorial Genetic Disorder
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Onco-
Onco-
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Oncogene
Oncogene
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Teratogen
Teratogen
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Congenital Defects
Congenital Defects
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Fetal Alcohol Syndrome (FAS)
Fetal Alcohol Syndrome (FAS)
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Chromosomal Disorders (Aberrations)
Chromosomal Disorders (Aberrations)
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Heterozygous genotype
Heterozygous genotype
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Carrier
Carrier
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Sickle-cell trait
Sickle-cell trait
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Homozygous normal
Homozygous normal
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Autosomal dominant disorder
Autosomal dominant disorder
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Autosomal genes
Autosomal genes
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Genotype
Genotype
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Phenotype
Phenotype
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X-linked gene pairs
X-linked gene pairs
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X-linked dominant disorders
X-linked dominant disorders
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X-linked recessive disorders
X-linked recessive disorders
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Y-linked disorders
Y-linked disorders
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Sex-linked vs. X-linked disorders
Sex-linked vs. X-linked disorders
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Acidosis
Acidosis
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Anaerobic Glycolysis
Anaerobic Glycolysis
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Normal blood pH
Normal blood pH
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Maintaining Blood pH
Maintaining Blood pH
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Gluconeogenesis
Gluconeogenesis
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Glycogen
Glycogen
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ATP (Adenosine Triphosphate)
ATP (Adenosine Triphosphate)
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Hypoxia
Hypoxia
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Metabolic alkalosis
Metabolic alkalosis
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Respiratory alkalosis
Respiratory alkalosis
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Respiratory acidosis
Respiratory acidosis
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Metabolic acidosis
Metabolic acidosis
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Respiratory compensation
Respiratory compensation
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Metabolic compensation
Metabolic compensation
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Alkalosis
Alkalosis
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Study Notes
Required Reading Document #1: Basic Concepts, Genetic Influence in Disease, and Intracellular Function and Disorders
- This document provides basic concepts of pathophysiology and implications for nursing.
- Students should read this document and other documents mentioned.
- Students are responsible for assigned coursework and assignments.
- All content links pathophysiology with clinical manifestations. This includes how pathophysiology results in symptoms and how recognizing symptoms helps identify a disease process.
Basic Concepts of Pathophysiology & Implications for Nursing
-
Objectives/outcomes: Students should be able to describe/discuss/identify concepts underlying physiology and pathophysiology and apply these to disease processes.
-
Outline:
- Overview of physiology and pathophysiology.
- Concepts of homeostasis, compensation, and decompensation.
- Disease vs. disorder vs. syndrome.
- Terminology/elements leading up to a disease, causes of a disease, and the disease course.
Physiology
- Study of functions and processes occurring in the body, mainly normal processes.
Pathophysiology
- Study of the underlying changes in body physiology that result from disease or injury.
Examples of Physiologic/Pathophysiologic Concepts
- Physiologic amenorrhea (cessation of menstrual flow due to, for example, pregnancy or menopause) vs. pathophysiologic amenorrhea (cessation due to cancer).
- Physiologic albuminuria vs. pathophysiologic albuminuria.
Homeostasis
- Maintaining constant internal conditions (e.g., temperature, pH).
- Body constantly works to return to balance when faced with stressors.
Compensation and Decompensation
- Return to homeostasis after a stressor.
- Achieved by control mechanisms (compensatory responses).
- Failure to compensate, either rapidly or slowly, can result in decompensation.
- Example: sweating in response to high temperature.
Pathology
- A harmful condition of the body.
Disorder
- A disturbance in the healthiness of the body.
Syndrome
- A collection of symptoms.
Terms Relating to Elements Leading Up to Disease
- Risk factors: Factors that increase the probability of a disease occurring (e.g., genetics, age, lifestyle).
- Precipitating factors: Events that trigger a disease or disorder (e.g., stress, exertion triggering an asthma attack).
Terms Relating to Causes of Disease
- Etiology: The cause of a disease (e.g., a virus, a genetic defect).
- Idiopathic: A disease with an unknown cause.
- Iatrogenic: A problem resulting from medical treatment (e.g., kidney failure caused by inappropriate antibiotic use).
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