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SI-Generated Mock Exam 1 - Pathophysiology & Pathology Vocabulary

Comprehensive Study Notes for SI-Generated Mock Exam 1

Below are organized, comprehensive study notes derived from the transcript of the mock exam. Each item includes the key concept, the question content, the correct answer (per the provided answer key), and concise explanations or rationale. Where helpful, related foundational principles and real-world relevance are included. Mathematical or quantitative references are presented using LaTeX syntax where applicable.

Genetics, Inheritance, and Cancer Biology

  • Q1: PKD inheritance

    • Concept: Polycystic kidney disease (PKD) is discussed in a Mendelian context.
    • Question: If the mother is homozygous recessive (rr) and the father is heterozygous (Rr) with PKD, what is the chance their child will have PKD?
    • Answer: C) 50%
    • Rationale: PKD is autosomal dominant in classic medical literature. Punnett across rr x Rr yields offspring genotypes Rr (50%) and rr (50%). PKD manifests in those with the dominant allele; thus 50% risk.
    • Real-world note: This illustrates autosomal-dominant risk assessment and genetic counseling for carrier parents.

  • Q16: Genetic mutation that initiates cancer

    • Concept: Oncogenes as drivers of carcinogenesis.
    • Question: Which describes a genetic mutation that sets cancer into motion?
    • Answer: B) Oncogene
    • Rationale: Oncogenes are mutated or overexpressed versions of normal genes (proto-oncogenes) that drive uncontrolled cell growth.
    • Related principle: Initiation of tumorigenesis often involves activation of oncogenes and/or loss of tumor suppressor function.

  • Q17: Chromosomal disorders

    • Concept: Structural or numerical chromosomal changes can disrupt gene function.
    • Question: An alteration in a chromosome where gene functionality is disrupted and does not code proteins correctly describes which?
    • Answer: D) Chromosomal disorder
    • Rationale: Chromosomal disorders involve changes in chromosome number or structure that affect gene dosage or expression.

  • Q18: Philadelphia chromosome in CML

    • Concept: Chromosomal translocations creating fusion genes.
    • Question: What does the Philadelphia chromosome code for in chronic myeloid leukemia (CML)?
    • Answer: C) The abnormal coding for too many leukocytes (leukocytosis)
    • Rationale: Philadelphia chromosome results in BCR-ABL fusion protein, driving increased leukocyte proliferation.

  • Q20: cancer staging basics (T, N, M)

    • Concept: Tumor staging informs cancer prognosis and treatment planning.
    • Question: Biopsy shows T=1, N=1, M=1. Is this cancerous?
    • Answer: A) Yes
    • Rationale: The presence of N and M values indicates lymph node involvement and metastasis, supporting a cancer diagnosis.

  • Q27: Inheritance patterns for recessive diseases (multiple selections)

    • Concept: Recessive disorders require two mutant alleles for disease expression.
    • Question: Which diseases are examples of recessive inheritance? (Select all that apply)
    • Answer: B) Sickle cell anemia, D) McArdle’s disease
    • Rationale: Sickle cell anemia (HbS/HbS) and McArdle’s disease (glycogen storage disease type V) are classic recessive disorders. Other listed items may have different inheritance patterns.

  • Q41: Single-gene dominant disorder

    • Concept: Distinguishing single-gene dominant conditions from others.
    • Question: Which is a single-gene dominant disorder?
    • Answer: B) Polycystic kidney disease
    • Rationale: Autosomal dominant PKD is classically cited as a single-gene dominant condition.

  • Q42: Chromosome-number disorders

    • Concept: Aneuploidy and chromosome number alterations.
    • Question: Which disorder is caused by an alteration in chromosome number?
    • Answer: C) Downs syndrome
    • Rationale: Trisomy 21 is a numerical chromosomal disorder.

  • Q47–Q49: PKD and patient-facing explanations (clinical context)

    • Q47: PKD explanation to patient
    • Concept: PKD inheritance is typically autosomal dominant.
    • Question: How to explain PKD's inheritance to Victor?
    • Answer: B) PKD is an autosomal dominant disorder.
    • Q48: Patient-reported symptoms associated with PKD
    • Concept: PKD commonly presents with back/flank pain and hematuria; infections and stones may occur.
    • Answer: B) The description aligning with back pain, hematuria, stones, infections.
    • Q49: Mechanism of RAAS in PKD context
    • Concept: The RAAS system contributes to fluid and electrolyte balance and blood pressure regulation in kidney disease contexts.
    • Answer: D) Renin → Angiotensin I → Angiotensin II via ACE; Ang II → vasoconstriction + Aldosterone → Na+ and water retention

  • Q50–Q51: Fluid balance systems and tonicity (contextual knowledge)

    • Q50: When in fluid volume overload, which system predominates to correct? (Natriuretic Peptide System, NPS)
    • Answer: D) NPS. There is too much volume; NPS acts to promote natriuresis/diuresis and decrease blood volume.
    • Q51: Hypotonic patient management
    • Concept: Hypotonic state requires hypertonic solutions to raise osmolality.
    • Answer: A) Hypertonic solution (3% NaCl)

  • Q55–Q56: Angiogenesis and ischemia (tumor biology)

    • Q55: Role of angiogenesis in tumor development
    • Answer: B) Angiogenesis reallocate blood flow to the tumor, allowing tumor cells to receive nourishment; promotes tumor growth.
    • Q56: Acute vs chronic ischemia
    • Answer: C) Chronic ischemia is better than acute ischemia because chronic ischemia occurs gradually, allowing adaptation and warning signs (ischemic pain) to develop over time.

  • Q60: Wernicke-Korsakoff syndrome in alcoholics

    • Concept: Thiamine deficiency-related neurocognitive disorder common in alcoholism; memory loss and ataxia are hallmark features.
    • Answer: B) Usually applies to alcoholics; memory loss and ataxia; associated with alcohol use and nutritional deficiency.

  • Q61: Acid-base compensation framework (fill-in-the-blanks with answer key)

    • Statement: Metabolic acidosis is compensated by (1) hyperventilation; metabolic alkalosis is compensated by (2) hypoventilation; (3) hyperventilation causes respiratory alkalosis; (4) hypoventilation causes respiratory acidosis.
    • Answer: A) (1) hyperventilation, (2) hypoventilation, (3) hyperventilation, (4) hypoventilation
    • Rationale: This sequence reflects standard compensatory responses in acid-base disturbances: metabolic acidosis triggers hyperventilation to blow off CO2; metabolic alkalosis triggers hypoventilation; respiratory disturbances are compensated by renal mechanisms (slow) or metabolic adjustments.

Physiology and Cellular Biology: Homeostasis, Injury, and Adaptation

  • Q8: Cellular adaptation due to smoking

    • Concept: Smoking-induced epithelial changes; reversibility upon cessation.
    • Question: What type of cellular adaptation occurs when epithelial changes revert after quitting?
    • Answer: B) Metaplasia
    • Rationale: Metaplasia is a reversible change in which one differentiated cell type is replaced by another; cessation can allow reversal toward normal epithelium.

  • Q9: Aging and prognosis

    • Concept: Aging and immune senescence influence prognosis.
    • Answer: B) as age increases the chance of a poor prognosis increase because of a worn out immune system.

  • Q11: Polar gap and RMP implications

    • Concept: Resting membrane potential and excitability.
    • Answer: C) Muscle cells, when polar gap is shorter, may exhibit spasms due to altered excitability.
    • Note: RMP reference given as −60 mV in the item.

  • Q12: Sickling and cellular injury mechanisms

    • Answer: A) Acute ischemia
    • Rationale: Sickle cell disease causes vaso-occlusion and ischemia leading to tissue injury.

  • Q13: Glucagon action on glycogen

    • Concept: Hormone-driven glycogenolysis.
    • Answer: B) Glycogenolysis
    • Rationale: Glucagon stimulates glycogen breakdown to glucose in liver to raise blood glucose when levels are low.

  • Q14: Antioxidant defenses against free radicals

    • Concept: Enzymatic and non-enzymatic scavengers.
    • Answer: A, B, & D) Superoxide dismutase, Vitamin C, Vitamin E
    • Rationale: These agents help neutralize reactive oxygen species; beta-lactamase is not an antioxidant.

  • Q19: Osmotic physiology of osmolality and pressures

    • Concept: High osmolality affects tonicity, osmotic pressure, and oncotic pressure.
    • Answer: C) high tonicity, high osmotic pressure, high oncotic pressure
    • LaTeX note: In dehydration, osmolality ↑ → tonicity ↑; plasma protein concentration ↑ → oncotic pressure ↑.

  • Q29: Hypopolarization and polar gap

    • Concept: Polarization state and membrane potential.
    • Answer: B) The polar gap has shortened and RMP has become more positive

  • Q31: Disuse atrophy after cast removal

    • Concept: Atrophy arises from reduced cell size during disuse.
    • Answer: A) A decrease in the size of the cells causing a decrease in the size of the leg

  • Q35: Biomarkers for cell damage

    • Concept: Intracellular substances measured to assess cell injury/damage.
    • Answer: D) Creatine kinase, myoglobin, troponin

  • Q36: Metaplasia due to smoking

    • Concept: Reversible epithelial transformation due to chronic irritation.
    • Answer: A) Metaplasia; smoking irritated bronchial lining cells

  • Q38: Positive sequela after lifestyle change

    • Concept: Reversal of adversity can result in beneficial outcomes.
    • Answer: B) Positive sequela

  • Q39: Acid-base imbalance due to antacid overuse

    • Concept: Excess antacids can cause metabolic alkalosis, reflected in high pH and elevated HCO3.
    • Answer: C) pH: 7.50, HCO3: 30

  • Q40: Compensation for metabolic alkalosis

    • Concept: Respiratory compensation in metabolic alkalosis involves hypoventilation to retain CO2.
    • Answer: D) Lungs decreasing the rate and depth of respirations

  • Q43: Compensatory mechanism for poor skin turgor/oliguria

    • Concept: Fluid-volume deficit triggers RAAS activation to conserve water and salt.
    • Answer: A) RAAS

  • Q44: Liver disease and fluid shifts

    • Concept: Liver disease often leads to fluid shifts and edema; the provided key marks “Blood to tissue shift.”
    • Answer: B) Blood to tissue shift

  • Q45: Fluid-retention system

    • Concept: System that retains fluid via hormonal control
    • Answer: C) The Renin Angiotensin-Aldosterone System
    • Note: Some listings use “Renin-Angiotensin-Aldosterone System” (RAAS) convention; in the transcript the wording is “Renin Angiotensin-Aldosterone System.”

  • Q57–Q58: Membrane potential disturbances

    • Q57: Hypopolarization association
    • Answer: B) Hyperkalemia is associated with hypopolarization because diffusion results in the resetting of the cell’s membrane potential to a less negative number.
    • Q58: Hyperpolarization combination
    • Answer: C) Hypercalcemia, hyponatremia, hypokalemia
    • Rationale: Hyperpolarization entails a more negative RMP; disturbances in calcium, sodium, and potassium influence membrane excitability.

  • Q60: Wernicke-Korsakoff syndrome (revisit)

    • Concept: Thiamine deficiency-related neurocognitive disorder in alcoholics; memory loss and ataxia.
    • Answer: B) This syndrome usually applies to alcoholics as they tend to prefer alcohol as their main source of nutrients. It is manifested as memory loss and ataxia.

Acid–Base Balance and Electrolyte Homeostasis

  • Q10–Q13, Q19, Q21, Q25–Q26, Q29, Q31, Q32, Q39–Q41, Q52–Q54, Q56, Q61 (highlights)

    • General concepts:
    • Metabolic acidosis requires hyperventilation for compensation; metabolic alkalosis requires hypoventilation.
    • Respiratory acidosis/alkalosis compensation involves renal adjustments (slower mechanisms).
    • Osmolality and tonicity relate to solute concentrations in body fluids; shifts in osmolality influence cellular water movement.
    • Hypotonic vs hypertonic solutions: hypotonic fluids dilute body compartments; hypertonic fluids draw water out of cells.
    • Benign tumors vs malignant tumors: benign tend to be slow-growing, non-metastatic, well-differentiated.
    • Angiogenesis supports tumor growth by providing a blood supply.

  • Quick reference key equations and terms (LaTeX)

    • Osmolality and tonicity concept (qualitative): Osmolality ↑ implies higher tonicity; osmotically active solute concentration ↑.
    • pH scales and bicarbonate relationships are foundational for acid–base questions; example: for metabolic acidosis, HCO$3^-$ ↓ and pH ↓; compensation via CO$2$ decrease via respiration.
    • Resting Membrane Potential (RMP) example: typical neurons/muscle cells have RMP around −60 to −70 mV; changes in ion gradients shift excitability.
    • For RAAS: Renin → Angiotensin I → Angiotensin II via ACE; Ang II → vasoconstriction; Aldosterone secretion → Na$^+$ and water retention.
    • For Phases of Ischemia: Acute ischemia presents with sharp onset and ischemic pain; chronic ischemia develops gradually with adaptive mechanisms.

Clinical Correlations and Practical Implications

  • Teratogens and pregnancy: High maternal alcohol exposure risks fetal development (Fetal Alcohol Syndrome). Emphasize the need for screening and counseling in prenatal care.
  • Cancer biology and patient counseling: Understanding oncogenes, chromosomal abnormalities, and RAAS involvement in kidney disease helps explain disease progression and treatment rationales (e.g., targeted therapies, diuretics, ACE inhibitors).
  • Acid-base and electrolyte management in the clinic: Recognize patterns indicating metabolic vs. respiratory disturbances and the compensatory mechanisms to guide treatment (e.g., ventilation strategies, IV fluids, electrolyte correction).
  • Sickle cell disease insights: Pathophysiology emphasizes the importance of preventing vaso-occlusive crises and recognizing signs of tissue ischemia; patient education regarding triggers and hydration is key.
  • PKD symptomatology and patient education: Common symptoms include flank pain, hematuria, and infections; family history and genetic counseling are important due to autosomal dominant inheritance.
  • Gout and dietary considerations: High-purine foods and alcohol can exacerbate symptoms; dietary counseling is a practical management component.

Summary of Key Answers (Quick Reference)

  • Q1: C
  • Q2: C
  • Q3: C
  • Q4: B
  • Q5: A
  • Q6: C
  • Q7: A
  • Q8: B
  • Q9: B
  • Q10: C
  • Q11: C
  • Q12: A
  • Q13: B
  • Q14: A, B, & D
  • Q15: D
  • Q16: B
  • Q17: D
  • Q18: C
  • Q19: C
  • Q20: A
  • Q21: B
  • Q22: A
  • Q23: D
  • Q24: C
  • Q25: C
  • Q26: D
  • Q27: B & D
  • Q28: A
  • Q29: B
  • Q30: A
  • Q31: A
  • Q32: C
  • Q33: D
  • Q34: B
  • Q35: D
  • Q36: A
  • Q37: B
  • Q38: B
  • Q39: C
  • Q40: D
  • Q41: B
  • Q42: C
  • Q43: A
  • Q44: B
  • Q45: C
  • Q46: C
  • Q47: B
  • Q48: B
  • Q49: D
  • Q50: D
  • Q51: A
  • Q52: A
  • Q53: C
  • Q54: A
  • Q55: B
  • Q56: C
  • Q57: B
  • Q58: C
  • Q59: C
  • Q60: B
  • Q61: A

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