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Questions and Answers
What is a major side effect of chimeric antigen receptor T cell therapy?
What is a major side effect of chimeric antigen receptor T cell therapy?
Which vitamin deficiency leads to scurvy due to its role in collagen synthesis?
Which vitamin deficiency leads to scurvy due to its role in collagen synthesis?
Which condition results from a lateral medullary infarct?
Which condition results from a lateral medullary infarct?
In which of the following conditions are IgA deficiency patients at risk during blood transfusions?
In which of the following conditions are IgA deficiency patients at risk during blood transfusions?
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What is the primary role of glucokinase in pancreatic beta cells?
What is the primary role of glucokinase in pancreatic beta cells?
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Which symptom is associated with acute bacterial prostatitis?
Which symptom is associated with acute bacterial prostatitis?
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What typically triggers hereditary angioedema associated with C1 inhibitor deficiency?
What typically triggers hereditary angioedema associated with C1 inhibitor deficiency?
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Patients with phenylketonuria need supplementation of which amino acid?
Patients with phenylketonuria need supplementation of which amino acid?
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What type of particles can bypass ciliated airways to reach the alveoli?
What type of particles can bypass ciliated airways to reach the alveoli?
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What neurological condition is characterized by symptoms incompatible with anatomy or pathophysiology?
What neurological condition is characterized by symptoms incompatible with anatomy or pathophysiology?
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What is the primary cause of Porphyria cutanea tarda?
What is the primary cause of Porphyria cutanea tarda?
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What component of the urinary tract is formed from the metanephric blastema?
What component of the urinary tract is formed from the metanephric blastema?
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In skeletal muscle contraction, which molecule binds calcium released from the sarcoplasmic reticulum?
In skeletal muscle contraction, which molecule binds calcium released from the sarcoplasmic reticulum?
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What genetic mutation is associated with early onset Alzheimer's disease?
What genetic mutation is associated with early onset Alzheimer's disease?
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What type of infection is associated with Pseudomonas aeruginosa, particularly in hair follicles?
What type of infection is associated with Pseudomonas aeruginosa, particularly in hair follicles?
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What is a significant characteristic of the HbC variant compared to normal hemoglobin?
What is a significant characteristic of the HbC variant compared to normal hemoglobin?
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What is a common fetal abnormality associated with Down syndrome?
What is a common fetal abnormality associated with Down syndrome?
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What is a consequence of pernicious anemia on gastric physiology?
What is a consequence of pernicious anemia on gastric physiology?
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Which symptom is commonly associated with a pituitary adenoma?
Which symptom is commonly associated with a pituitary adenoma?
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What is the result of blunt lower abdominal trauma regarding bladder effects?
What is the result of blunt lower abdominal trauma regarding bladder effects?
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What clinical features are associated with Porphyria cutanea tarda?
What clinical features are associated with Porphyria cutanea tarda?
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What is the consequence of valproate on folate metabolism?
What is the consequence of valproate on folate metabolism?
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Which structure is responsible for forming the collecting tubules during kidney development?
Which structure is responsible for forming the collecting tubules during kidney development?
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What is the primary effect of mutations in the glucokinase gene?
What is the primary effect of mutations in the glucokinase gene?
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In skeletal muscle contraction, what role does troponin C play?
In skeletal muscle contraction, what role does troponin C play?
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Which genetic factor is linked to late onset Alzheimer's disease?
Which genetic factor is linked to late onset Alzheimer's disease?
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In patients with locked-in syndrome, which ability remains intact?
In patients with locked-in syndrome, which ability remains intact?
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What is a defining characteristic of Pseudomonas aeruginosa?
What is a defining characteristic of Pseudomonas aeruginosa?
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What defines the clinical presentation of Wallenberg syndrome?
What defines the clinical presentation of Wallenberg syndrome?
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What causes the erythrocyte sickling in HbS individuals?
What causes the erythrocyte sickling in HbS individuals?
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What condition is indicated by a midline mass that moves with swallowing?
What condition is indicated by a midline mass that moves with swallowing?
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What is the result of excessive IgA in blood products for a patient with IgA deficiency?
What is the result of excessive IgA in blood products for a patient with IgA deficiency?
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What consequence arises from the destruction of parietal cells in pernicious anemia?
What consequence arises from the destruction of parietal cells in pernicious anemia?
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Which neurological symptom is commonly associated with Niemann-Pick disease?
Which neurological symptom is commonly associated with Niemann-Pick disease?
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What is the primary symptom associated with conversion disorder?
What is the primary symptom associated with conversion disorder?
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What is a consequence of blunt lower abdominal trauma regarding bladder function?
What is a consequence of blunt lower abdominal trauma regarding bladder function?
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Which mechanism leads to respiratory papillomatosis in infants?
Which mechanism leads to respiratory papillomatosis in infants?
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Which abnormality commonly occurs in fetuses with Down syndrome?
Which abnormality commonly occurs in fetuses with Down syndrome?
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What defines acute bacterial prostatitis?
What defines acute bacterial prostatitis?
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Which statement is accurate regarding fine particles and the respiratory system?
Which statement is accurate regarding fine particles and the respiratory system?
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Study Notes
Porphyria Cutanea Tarda
- Caused by a deficiency in the enzyme uroporphyrinogen decarboxylase.
- Presents with sun-exposed blisters, edema, itching, pain, and redness.
Urinary Tract Development
- The mature urinary tract forms from the metanephros, comprised of the metanephric blastema and metanephric diverticulum.
- The metanephric blastema gives rise to the glomeruli, Bowman's space, proximal tubules, loop of Henle, and distal convoluted tubule (DCT).
- The metanephric diverticulum forms the collecting tubules, major and minor calyces, renal pelvis, and ureters.
Skeletal Muscle Contraction
- Calcium release from the sarcoplasmic reticulum triggers muscle contraction.
- Calcium binds to troponin C, allowing actin to bind to myosin.
Alzheimer's Disease
- Early-onset: Associated with mutations in the APP gene on chromosome 21, presenilin 1, and presenilin 2.
- Late-onset: Associated with the apolipoprotein E4 genotype.
Pseudomonas Aeruginosa Infection
- Causes hot tub folliculitis, presenting as a rash on the trunk and extremities.
- Gram-negative, oxidase-positive, non-lactose fermenting, motile rods that produce a green pigment.
Interferons Alpha and Beta
- Produced by humans in response to viral infections.
- Halt protein synthesis and promote apoptosis of infected cells.
Sickle Cell Disease (HbS)
- Caused by a replacement of glutamic acid with nonpolar valine in hemoglobin.
- This creates a hydrophobic pocket leading to erythrocyte sickling.
Hemoglobin C Disease (HbC)
- Glutamic acid is replaced by polar lysine.
- The positive charge of lysine results in decreased mobility of HbC.
Down Syndrome
- Associated with decreased maternal serum alpha-fetoprotein and increased nuchal translucency.
- Characterized by a failure of duodenal recanalization, leading to duodenal atresia.
Niemann-Pick Disease
- Autosomal recessive disorder common in the Ashkenazi Jewish population.
- Caused by a deficiency in sphingomyelinase.
- Presents with neurologic regression, hepatosplenomegaly, and retinal opacification.
Bladder Rupture
- Blunt lower abdominal trauma can increase intravesical pressure, leading to rupture of the bladder dome.
- Urine leaks into the intraperitoneal cavity.
Pernicious Anemia
- Destruction of parietal cells in the upper glandular layer of the gastric body and fundus.
- Parietal cell deficiency leads to megaloblastic anemia and neurologic dysfunction.
Pituitary Adenoma
- Tumor in the anterior pituitary.
- Can cause amenorrhea (due to excessive prolactin secretion), headaches, and bitemporal hemianopia.
- The anterior pituitary originates from surface ectoderm.
Vitamin C Deficiency (Scurvy)
- Vitamin C is essential for the hydroxylation of proline and lysine residues during collagen synthesis.
- Deficiency leads to scurvy.
Cardiac Output Calculation
- Cardiac output equals the rate of oxygen consumption divided by the arteriovenous oxygen content difference.
Inferior Alveolar Nerve
- Part of the mandibular nerve.
- Provides sensation to the chin and lower lip.
mRNA Vaccines
- Deliver mRNA molecules encoding foreign proteins into the cytoplasm of host cells.
- mRNA is translated by ribosomes and displayed on cell surfaces.
Fine Particle Inhalation
- Fine particles can bypass ciliated airways and reach respiratory bronchioles and alveoli.
- Phagocytized by alveolar macrophages.
Chimeric Antigen Receptor (CAR) T-Cell Therapy
- T cells from a patient with malignancy are extracted and genetically modified with a CAR gene targeting a protein overexpressed by the cancer.
- Modified T cells are reinfused back into the patient.
- Side effects include cytokine storm and hypogammaglobulinemia.
- Cytokine storm can be treated with interleukin-6 (IL-6) inhibitors.
Wallenberg Syndrome
- Caused by a lateral medullary infarct.
- Presents with vertigo, ataxia, loss of pain/temperature sensation on the ipsilateral face and contralateral body, and ipsilateral Horner syndrome.
Human Papillomavirus (HPV)
- Infects stratified squamous epithelium, including the true vocal cords, cervix, and anus.
- Infants can acquire respiratory papillomatosis during passage through an HPV-infected birth canal.
Phenylketonuria (PKU)
- Characterized by neurologic abnormalities and a musty odor.
- Requires tyrosine supplementation.
Acute Bacterial Prostatitis
- Presents with fever, dysuria, and prostatic tenderness.
- Caused by gram-negative bacilli, primarily E. coli.
IgA Deficiency
- Causes recurrent sinopulmonary and gastrointestinal infections.
- Individuals with IgA deficiency can have anaphylactic reactions to blood transfusions due to small amounts of IgA in blood products.
C1 Inhibitor Deficiency
- Causes hereditary angioedema, which can be triggered by transfusions.
Thyroglossal Duct Cyst
- Results from the failure of the thyroglossal duct to atrophy in utero.
- Cysts can form anywhere along the path of thyroid descent.
- Midline mass that moves with swallowing.
Peripheral Neuropathy
- Dorsal columns are involved in vibration, proprioception, and light touch.
- Sensation from the lower limbs is carried by the gracile fasciculus, located medially.
- Sensation from the upper limbs is carried by the cuneate fasciculus, located laterally.
Conversion Disorder
- Neurological symptoms are incompatible with anatomy or known pathophysiology.
Factitious Disorder
- Falsification of symptoms in the absence of obvious external rewards.
Malingering
- Falsification of illness for obvious external rewards.
Somatic Symptom Disorder
- Excessive thoughts, anxiety, and behaviors in response to symptoms.
Valproate
- Impairs folate metabolism, increasing the risk of neural tube closure defects.
Glucokinase
- Functions as a glucose sensor, controlling pancreatic beta cell function by regulating glucose entry into the glycolytic pathway.
Maturity Onset Diabetes of the Young (MODY)
- Caused by mutations in the glucokinase gene, requiring higher glucose levels to stimulate insulin secretion.
Locked-In Syndrome
- Caused by ischemic injury to the bilateral ventral pons.
- Patients are unable to move or speak but retain consciousness, sensation, eye opening, and vertical eye movements.
Porphyria Cutanea Tarda
- Caused by uroporphyrinogen decarboxylase deficiency
- Presents with blisters on sun-exposed areas, edema, pruritus, pain and erythema
Urinary Tract Development
- The mature urinary tract develops from the metanephros
- The metanephric blastema gives rise to glomeruli, Bowman's space, proximal tubules, loop of Henle and DCT
- The metanephric diverticulum forms collecting tubules, major and minor calyces, renal pelvis and ureters
Skeletal Muscle Contraction
- Calcium is released from the sarcoplasmic reticulum and binds to troponin C
- This allows actin to bind to myosin
Alzheimer's Disease
- Early-onset Alzheimer's is associated with mutations in:
- APP gene on chromosome 21
- Presenilin 1
- Presenilin 2
- Late-onset Alzheimer's is associated with the apolipoprotein E4 genotype
Pseudomonas Aeruginosa
- Gram-negative, oxidase-positive, non-lactose fermenting, motile rods
- Produces a green pigment
- Causes hot tub folliculitis, a rash on the trunk and extremities
Interferons Alpha and Beta
- Produced by humans in response to viral infections
- Halt protein synthesis and promote apoptosis of infected cells
Sickle Cell Disease
- HbS occurs due to a replacement of glutamic acid with nonpolar valine
- This creates a hydrophobic pocket, causing erythrocyte sickling
Hemoglobin C Disease
- Glutamic acid is replaced with polar lysine
- The positive charge of lysine decreases HbC mobility
Down Syndrome
- Decreased maternal serum alpha-fetoprotein and increased nuchal translucency
- Failure of duodenal recanalization, leading to duodenal atresia
Niemann-Pick Disease
- Autosomal recessive disease common in Ashkenazi Jewish populations
- Sphingomyelinase deficiency causes neurologic regression, hepatosplenomegaly and retinal opacification
Bladder Rupture
- Blunt lower abdominal trauma can increase intravesical pressure and rupture the bladder dome
- This spills urine into the intraperitoneal cavity
Pernicious Anemia
- Destruction of parietal cells in the upper glandular layer of the gastric body and fundus
- Deficiency of parietal cells leads to megaloblastic anemia and neurologic dysfunction
Pituitary Adenoma
- Tumor in the anterior pituitary
- Causes amenorrhea due to excessive prolactin secretion, headaches and bitemporal hemianopia
- Originates from surface ectoderm
Vitamin C Deficiency
- Vitamin C is needed for hydroxylation of proline and lysine residues during collagen synthesis
- Deficiency leads to scurvy
Cardiac Output
- Cardiac output = rate of O2 consumption / arteriovenous O2 content difference
Inferior Alveolar Nerve
- Part of the mandibular nerve
- Provides sensation to the chin and lower lip
mRNA Vaccines
- Deliver mRNA molecules encoding foreign protein into the cytoplasm of host cells
- The mRNA is translated by ribosomes and displayed on cell surfaces
Fine Particle Inhalation
- Particles can travel past ciliated airways into respiratory bronchioles and alveoli
- Phagocytized by alveolar macrophages
Chimeric Antigen Receptor T Cell Therapy (CAR T-Cell Therapy)
- Extracts T cells from a patient with malignancy
- Insertions a CAR gene against a protein overexpressed by malignancy
- Reinfuses modified T cells back into the patient
- Side effects include cytokine storm (treated with IL-6) and hypogammaglobulinemia
Wallenberg Syndrome
- Lateral medullary infarct
- Symptoms include vertigo, ataxia, loss of pain/temperature sensation on the ipsilateral face and contralateral body
- Also includes ipsilateral Horner syndrome
Human Papillomavirus (HPV)
- Infects stratified squamous epithelium (true vocal cords, cervix, anus)
- Infants can acquire respiratory papillomatosis during passage through an HPV infected birth canal
Phenylketonuria
- Presents with neurologic abnormalities and a musty odor
- Requires tyrosine supplementation
Acute Bacterial Prostatitis
- Fever, dysuria, prostatic tenderness
- Caused by gram-negative bacilli like E.coli
IgA Deficiency
- Recurrent sinopulmonary and GI infections
- Anaphylactic reaction to blood transfusions due to small amounts of IgA in blood products
C1 Inhibitor Deficiency
- Hereditary angioedema that can be triggered by transfusions
Thyroglossal Duct Cyst
- Failed atrophy of the thyroglossal duct in utero
- Located anywhere along the path of the thyroid descent
- Midline mass that moves with swallowing
Peripheral Neuropathy
- Dorsal columns are involved in vibration, proprioception, and light touch
- Sensation from lower limbs is carried by the gracile fasciculus (medially)
- Sensation from upper limbs is carried by the cuneate fasciculus (laterally)
Conversion Disorder
- Neurological symptoms incompatible with anatomy or pathophysiology
Factitious Disorder
- Falsification of symptoms in the absence of obvious external rewards
Malingering
- Falsification of illness for obvious external rewards
Somatic Symptom Disorder
- Excessive thoughts, anxiety and behaviors in response to symptoms
Valproate
- Impairs folate metabolism, increasing the risk of neural tube closure defects
Glucokinase
- Functions as a glucose sensor
- Controls pancreatic beta cells by controlling the rate of glucose entry into the glycolytic pathway
Glucokinase Gene Mutations
- Higher glucose levels are required to stimulate insulin secretion
- Cause of maturity-onset diabetes of the young
Locked-In Syndrome
- Ischemic injury to the bilateral ventral pons
- Patients are unable to move or speak but retain consciousness, sensation, eye opening and vertical eye movements
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Description
This quiz covers important topics in pathophysiology, including Porphyria Cutanea Tarda, urinary tract development, and skeletal muscle contraction. It also touches on Alzheimer's Disease and the mechanisms of infection by Pseudomonas Aeruginosa. Test your knowledge across these key areas of human biology and medicine.
