Genetics
Match the correct type of genetic mutations.
Word bank: Silent Missense Nonsense Frameshift
Change in single amino acid.
Stop codons are inserted randomly.
Mutation where there are no consequences.
Insertions of one or more base pairs that alter the way DNA is read.
Missense “Mistake” (1 wrong amino acid)
Nonsense “Nonfunctional” (STOP too soon)
Frameshift (Everything shifts)
The body’s circadian rhythm is regulated by:
Melatonin
Melatonin, produced by the pineal gland, helps regulate the body’s circadian rhythm, influencing sleep-wake cycles.
Which hormone system is active when there is low blood pressure to the kidneys?
RAAS
The renin-angiotensin-aldosterone system (RAAS) is activated when blood pressure is low, stimulating the release of aldosterone to increase sodium and water reabsorption, raising blood pressure.
What is the primary function of hemoglobin in red blood cells?
To carry oxygen to tissues and transport carbon dioxide to the lungs
Which hormone is deficient in diabetes insipidus?
Antidiuretic Hormone
Diabetes insipidus is characterized by a deficiency in antidiuretic hormone (ADH), which results in the kidneys being unable to concentrate urine, leading to excessive urination and thirst.
Which of the following is an example of a phenotype?
11 toes - Visible physical trait
Blood type A - Measurable trait of blood proteins
The pitch of a person’s voice - Observable characteristic
Genotype = The Genetic Code (What’s inside your DNA)
Phenotype = The Physical Trait (What you can see or measure)
Which of the following is NOT an effect of prolonged cortisol exposure?
Increased inflammation
Prolonged cortisol exposure typically has anti-inflammatory effects and can suppress the immune system, leading to immunosuppression, not increased inflammation.
Which of the following is responsible for pulling fluid back into the capillary?
Capillary oncotic
Capillary oncotic pressure (due to plasma proteins like albumin) pulls fluid back into the capillaries from the interstitial space.
Which of the following is NOT a component of Virchow’s triad?
Increased cardiac output
Virchow’s triad includes endothelial injury, stasis of blood flow, and hypercoagulability, which are all factors contributing to thrombosis. Increased cardiac output is not part of the triad.
True or false: Hyperthyroidism is associated with weight gain, cold intolerance, and slow metabolism.
False
Hyperthyroidism is associated with weight loss, heat intolerance, and an increased metabolism, not weight gain, cold intolerance, and slow metabolism.
Which genetic mutation results from a single nucleotide change that substitutes one base pair for another?
b. Base pair substitution
Which disorder is characterized by excess cortisol production?
Cushing’s Disease
Cushing’s disease is caused by the overproduction of cortisol, typically due to a pituitary tumor that secretes excess ACTH, which stimulates cortisol release from the adrenal glands.
What does a serum sodium level of 150 mEq/L indicate?
Hypernatremia
A sodium level of 150 mEq/L is above the normal range (135-145 mEq/L), indicating hypernatremia, which often results from dehydration or excessive sodium intake.
A deficiency in intrinsic factor leads to which type of anemia?
Pernicious
Pernicious anemia occurs due to a lack of intrinsic factor, which is necessary for vitamin B12 absorption in the small intestine, leading to B12 deficiency and impaired red blood cell production.
A patient with adrenal insufficiency (Addison’s disease) would have elevated levels of which hormone?
ACTH
In Addison’s disease, the adrenal glands fail to produce sufficient cortisol and aldosterone. As a result, the pituitary gland compensates by increasing ACTH levels.
A couple are both carriers for an autosomal recessive disorder. What probability will their child be affected?
25%
For an autosomal recessive disorder, if both parents are carriers, there is a 25% chance the child will inherit two mutated alleles (one from each parent) and be affected.
Which of the following are physiological effects during the fight or flight response?
a. Increased heart rate
c. Vasoconstriction
d. Bronchodilation
The fight-or-flight response, mediated by catecholamines (e.g., epinephrine), increases heart rate, constricts blood vessels to prioritize blood flow to vital organs, and dilates airways (bronchodilation) to improve oxygen delivery.
A patient with a pH of 7.25, PaCO2 of 50, and HCO3 of 24 is in which acid-base imbalance?
Respiratory acidosis
Respiratory acidosis is characterized by low pH (acidity) and elevated PaCO2, which indicates CO2 retention due to impaired ventilation. The bicarbonate (HCO3) level is normal as the kidneys have not had time to compensate.
A patient with sickle cell anemia is at risk for which complication?
Vaso-occlusive crisis
In sickle cell anemia, red blood cells become crescent-shaped (sickled) and sticky, blocking blood flow in small vessels known as vaso-occlusive crisis which leads to severe pain, organ damage, and increased stroke risk.
Which of the following are signs of hyperthyroidism? SATA
Increased heart rate
Tremors
Heat intolerance
Hyperthyroidism causes symptoms like rapid heart rate, tremors, and heat intolerance. Weight loss (not gain) is common, and cold intolerance is seen in hypothyroidism, not hyperthyroidism.
Which of the following disorders is caused by trisomy due to nondisjunction?
Down Syndrome
Chronic stress can increase a person’s risk for which of the following? SATA.
Autoimmune diseases (disrupts immune regulation)
Ulcerative colitis (increases inflammation)
Type 2 diabetes mellitus (cortisol levels increase glucose levels and insulin resistance as well)
What are the effects of natriuretic peptides like ANP and BNP? SATA
Vasodilation
Increased sodium and water excretion
“Body’s natural diuretics”- their job is to get rid of extra fluid to lower blood pressure and reduce heart strain
A male patient presents to the ED complaining of weakness and dizziness. Upon examination, the nurse notes pallor and tachycardia. He also has a laceration to his leg with ongoing bleeding despite applying pressure.
Lab values are as follows:
Hemoglobin (Hb): 7 g/dL
Hematocrit (Hct): 30%
Based on the provided information, what is the likely cause of the patient’s symptoms?
Iron Deficiency
This patient has active bleeding from a leg laceration and shows signs of anemia (low Hb, pallor, tachycardia). His blood loss is the most likely cause of his symptoms, making ‘Blood Loss Anemia’ the correct answer.
Which of the following symptoms are associated with Syndrome of Inappropriate Antidiuretic Hormone (SIADH)?
Hyponatremia
Low urine output
Confusion
Vomiting
SIADH is caused by excess antidiuretic hormone, which leads to water retention, dilutional hyponatremia, and concentrated urine output which can result in neurological symptoms (confusion, seizures) and GI symptoms (vomiting).