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Questions and Answers
If both parents are carriers for an autosomal recessive trait, what is the probability that their offspring will be affected?
If both parents are carriers for an autosomal recessive trait, what is the probability that their offspring will be affected?
- 25% (correct)
- 75%
- 50%
- 100%
Which of these is an example of a disease caused by autosomal recessive inheritance?
Which of these is an example of a disease caused by autosomal recessive inheritance?
- Breast cancer
- Sickle cell anemia (correct)
- Coronary artery disease
- Alzheimer's disease
In the context of epigenetics, what is the primary effect of DNA methylation on gene expression?
In the context of epigenetics, what is the primary effect of DNA methylation on gene expression?
- Silencing of genes (correct)
- Changes in signaling pathways
- Activation of genes
- Increased gene transcription
What is the consequence of histone acetylation?
What is the consequence of histone acetylation?
Which of these statements best describes the function of microRNAs (miRNAs)?
Which of these statements best describes the function of microRNAs (miRNAs)?
Which cellular entity plays a crucial role in determining the fate of cells, ensuring specific genes are expressed in the correct cell types?
Which cellular entity plays a crucial role in determining the fate of cells, ensuring specific genes are expressed in the correct cell types?
What is the primary characteristic of a gene that has undergone genomic imprinting?
What is the primary characteristic of a gene that has undergone genomic imprinting?
A patient presents with muscle weakness, loss of muscle tone, and paralysis. Which of the following electrolyte imbalances is MOST likely the cause?
A patient presents with muscle weakness, loss of muscle tone, and paralysis. Which of the following electrolyte imbalances is MOST likely the cause?
A patient is admitted with a diagnosis of compulsive water intoxication. Which of the following is a likely treatment for this patient's condition?
A patient is admitted with a diagnosis of compulsive water intoxication. Which of the following is a likely treatment for this patient's condition?
A patient with chronic obstructive pulmonary disease (COPD) is experiencing increased COâ‚‚ retention. This is MOST likely to result in which acid-base imbalance?
A patient with chronic obstructive pulmonary disease (COPD) is experiencing increased COâ‚‚ retention. This is MOST likely to result in which acid-base imbalance?
A patient with a known history of diabetic ketoacidosis (DKA) has been admitted to the hospital. Which acid base imbalance is MOST likely to be present?
A patient with a known history of diabetic ketoacidosis (DKA) has been admitted to the hospital. Which acid base imbalance is MOST likely to be present?
A patient is experiencing vomiting and has been taking diuretics. Which acid-base imbalance are they MOST at risk for developing?
A patient is experiencing vomiting and has been taking diuretics. Which acid-base imbalance are they MOST at risk for developing?
Which of the following is a primary characteristic that distinguishes prokaryotic cells from eukaryotic cells?
Which of the following is a primary characteristic that distinguishes prokaryotic cells from eukaryotic cells?
A patient is experiencing a severe allergic reaction with symptoms including laryngeal edema and vascular collapse. What is the most likely underlying mechanism?
A patient is experiencing a severe allergic reaction with symptoms including laryngeal edema and vascular collapse. What is the most likely underlying mechanism?
Which cellular component is primarily responsible for the synthesis of lipids and the detoxification of substances?
Which cellular component is primarily responsible for the synthesis of lipids and the detoxification of substances?
A patient has a chronic, multisystem autoimmune disease characterized by autoantibodies. Which of the following conditions is most consistent with these symptoms?
A patient has a chronic, multisystem autoimmune disease characterized by autoantibodies. Which of the following conditions is most consistent with these symptoms?
What is the primary function of the peroxisomes within a cell?
What is the primary function of the peroxisomes within a cell?
A patient experiences a transplant rejection. Which type of immune reaction is responsible?
A patient experiences a transplant rejection. Which type of immune reaction is responsible?
What is a key function of the microbiome in maintaining host health?
What is a key function of the microbiome in maintaining host health?
Which cellular structure is responsible for processing and packaging proteins for transport?
Which cellular structure is responsible for processing and packaging proteins for transport?
A patient has recurrent, severe infections since birth. Which is the most likely underlying cause?
A patient has recurrent, severe infections since birth. Which is the most likely underlying cause?
Which of the following transport mechanisms moves substances against their concentration gradient?
Which of the following transport mechanisms moves substances against their concentration gradient?
What is the primary role of cAMP as a second messenger within a cell?
What is the primary role of cAMP as a second messenger within a cell?
Which of the following is NOT a characteristic of stem cells?
Which of the following is NOT a characteristic of stem cells?
What effect does hypoxia typically have on cells?
What effect does hypoxia typically have on cells?
Which transport mechanism involves the movement of water across a membrane?
Which transport mechanism involves the movement of water across a membrane?
What would be classified as an example of a first messenger?
What would be classified as an example of a first messenger?
The process where a cell expels substances out of the cell is called:
The process where a cell expels substances out of the cell is called:
Which cellular process is directly associated with hydrostatic pressure?
Which cellular process is directly associated with hydrostatic pressure?
What is a defining characteristic of free radicals that gives them the ability to damage cells?
What is a defining characteristic of free radicals that gives them the ability to damage cells?
How do chemical agents affect cells?
How do chemical agents affect cells?
What is the primary function of the Renin-Angiotensin-Aldosterone System (RAAS)?
What is the primary function of the Renin-Angiotensin-Aldosterone System (RAAS)?
Which of the following best describes the effect of Angiotensin II on blood pressure?
Which of the following best describes the effect of Angiotensin II on blood pressure?
Which of the conditions below would most likely lead to hypermagnesemia?
Which of the conditions below would most likely lead to hypermagnesemia?
Which of these clinical signs is most indicative of hypocalcemia?
Which of these clinical signs is most indicative of hypocalcemia?
Which of the following is NOT associated with hypercalcemia?
Which of the following is NOT associated with hypercalcemia?
What is the primary source of angiotensinogen required for the RAAS?
What is the primary source of angiotensinogen required for the RAAS?
Which of the following is a common etiology of hypomagnesemia?
Which of the following is a common etiology of hypomagnesemia?
A patient is experiencing muscle weakness, hypotension and bradycardia. Which electrolyte imbalance is most likely responsible?
A patient is experiencing muscle weakness, hypotension and bradycardia. Which electrolyte imbalance is most likely responsible?
What is the primary mechanism by which the RAAS increases blood pressure?
What is the primary mechanism by which the RAAS increases blood pressure?
A patient presents with tetany and positive Chvostek's sign. Which electrolyte imbalance is most likely?
A patient presents with tetany and positive Chvostek's sign. Which electrolyte imbalance is most likely?
Flashcards
Autosomal recessive inheritance
Autosomal recessive inheritance
A pattern of inheritance where a child inherits a mutated gene from both parents, resulting in a disease manifestation. If only one parent is a carrier, the child will be a carrier but unaffected.
Cystic Fibrosis
Cystic Fibrosis
A condition caused by a faulty gene on chromosome 7, affecting the lungs and pancreas, leading to thick mucus buildup and potentially fatal complications.
Epigenetics
Epigenetics
Chemical modifications to DNA that regulate gene expression without changing the underlying DNA sequence.
DNA methylation
DNA methylation
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Histone modification
Histone modification
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MicroRNAs (miRNAs)
MicroRNAs (miRNAs)
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Genomic imprinting
Genomic imprinting
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Hypokalemia
Hypokalemia
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Hyperkalemia
Hyperkalemia
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Hyponatremia
Hyponatremia
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Hypernatremia
Hypernatremia
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Respiratory Acidosis
Respiratory Acidosis
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Diffusion
Diffusion
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Osmosis
Osmosis
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Filtration
Filtration
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Active Transport
Active Transport
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Na+/K+ Pump
Na+/K+ Pump
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Endocytosis
Endocytosis
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Exocytosis
Exocytosis
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First Messengers
First Messengers
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Second Messengers
Second Messengers
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Stem Cells
Stem Cells
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Infarction
Infarction
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Renin-Angiotensin-Aldosterone System (RAAS)
Renin-Angiotensin-Aldosterone System (RAAS)
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Hypomagnesemia
Hypomagnesemia
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Hypermagnesemia
Hypermagnesemia
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Physical Injury
Physical Injury
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Genetics
Genetics
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Immune Reactions
Immune Reactions
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Nutritional Imbalances
Nutritional Imbalances
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Anaphylaxis
Anaphylaxis
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Immune Deficiency
Immune Deficiency
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Primary Immune Deficiency
Primary Immune Deficiency
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Secondary Immune Deficiency
Secondary Immune Deficiency
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Autoimmunity
Autoimmunity
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Alloimmunity
Alloimmunity
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Microbiome
Microbiome
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Prokaryotes
Prokaryotes
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Eukaryotes
Eukaryotes
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Study Notes
Innate Immunity
- Immunity types include innate resistance (natural barriers and inflammatory response) and adaptive (acquired) immunity.
- Lines of defense include the first line (natural barriers), second line (inflammation), and third line (adaptive immunity).
- First line of defense consists of physical and mechanical barriers like skin, low temperature/pH of skin, linings of GI, GU, and respiratory tracts, and biochemical barriers (e.g., antibacterial peptides in mucus, perspiration, saliva, tears).
First Line of Defense
- Physical barriers include skin and low temperature/pH of the skin.
- Mechanical barriers include linings of GI, GU, and respiratory tracts, sloughing off of cells, coughing, sneezing, vomiting, urinating, and mucus and cilia.
- Biochemical barriers include substances that trap or destroy microorganisms, as well as antibacterial peptides in mucus, perspiration, saliva, tears, and earwax.
Second Line of Defense: Inflammation
- Causes include infection, mechanical damage, ischemia, nutrient deprivation, temperature extremes, and radiation.
- Functions include preventing and limiting infection, controlling inflammation, and preparing the area for healing.
- Characteristics of inflammation include rapid initiation and no memory cells, as well a cardinal signs like redness, heat, swelling, pain, and loss of function.
- Vascular response involves blood vessel dilation and increased vascular permeability, with WBC adherence to vessel walls and migration through vessels.
- Plasma protein systems play a role in inflammation, including complement (destroying pathogens directly), clotting (forming a mesh to stop bleeding and prevent infection), and kinin systems.
Cellular Responders in Inflammation
- Cellular mediators include Mast cells, granulocytes (neutrophils, eosinophils, basophils), monocytes, macrophages, natural killer cells, lymphocytes, and cellular fragments (platelets).
- Biochemical mediators originate from destroyed cells and modulate activity of other inflammatory cells.
- Pattern Recognition Receptors (PRRs) recognize pathogen-associated molecular patterns (e.g., Toll-like receptors (TLRs)).
Phagocytosis
- Key cells involved include neutrophils, macrophages, and eosinophils.
- Functions include ingestion and disposal of foreign material and bacteria, dead cells, and macrophages.
Manifestations of Inflammation
- Local signs include heat, redness, swelling, pain, and loss of function. Systemic signs include fever, leukocytosis, and increased plasma protein synthesis.
- Types of exudates include serous (watery), fibrinous (thick clotted), purulent (pus), and hemorrhagic (containing blood).
- Chronic inflammation lasts two weeks or longer and is caused by unsuccessful acute response, microorganisms, toxins, and irritants. Characteristics include dense infiltration of macrophages and lymphocytes, as well as granuloma formation.
Wound Healing
- Wound healing stages include inflammation, reconstruction (begins 3–4 days post-injury), and remodeling (scar formation).
- Types of wound healing are primary intention (minimal tissue loss) and secondary intention (significant tissue replacement).
- Dysfunctions can include ischemia, hemorrhage, hypovolemia, infection, malnutrition, and medications, resulting in conditions such as Keloids, contractures and dehiscence.
Adaptive Immunity
- Adaptive immunity is characterized by recognizing foreign substances, providing long-term protection, and having memory.
- Key components include T cells (cellular immunity) and B cells (humoral immunity), along with antibodies (immunoglobulins—IgG, IgA, IgM, IgE).
Hypersensitivity Reactions
- Types of hypersensitivity reactions include Type I (IgE-mediated), Type II (tissue-specific), Type III (immune complex-mediated), and Type IV (T-cell-mediated).
Autoimmunity and Alloimmunity
- Autoimmunity involves the immune system attacking self-antigens (e.g., lupus).
- Alloimmunity involves a reaction against beneficial foreign tissues (e.g., transplants, transfusions).
Immune Deficiencies
- Types of deficiencies include primary (congenital) and secondary (acquired).
Chronic Inflammation
- Characteristics include dense infiltration of lymphocytes and macrophages, and granuloma formation
Active vs. Passive Immunity
- Active immunity is acquired through natural exposure (e.g., infection) or immunization (e.g., vaccination), resulting in long-term immunity.
- Passive immunity involves transferring preformed antibodies or T lymphocytes from a donor to a recipient (e.g., maternal antibodies to a fetus), leading to temporary immunity.
Types of Antibodies
- IgE is involved in allergies and parasitic infections.
- IgM is the first responder in infections.
- IgG provides long-term immunity and can cross the placenta.
- IgA is found in secretions (e.g., saliva, tears, breast milk).
Antigen Presenting Cells (APCs)
- APCs include dendritic cells, macrophages, and B lymphocytes.
- Their function is to process and present antigens to T-helper cells.
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