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Questions and Answers
Choose the TRUE statement regarding Charcot-Marie-Tooth disease (hereditary sensory and motor neuropathy)
Patients with Lesch Nyhan syndrome frequently have hyperuricemia which can lead to gouty arthritis. Lesch-Nyhan syndrome is a deficiency in which enzyme?
Which of the following joints is the LEAST likely to be affected by gout?
Choose the TRUE statement regarding the diagnosis of MS.
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Choose the TRUE statement about Bell's palsy.
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Choose the clinical feature that is typical of an INITIAL (not late) presentation of multiple sclerosis.
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Choose the TRUE statement regarding polyneuropathies.
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Which of the following is the mechanism of action of allopurinol?
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The coenzyme form of which vitamin helps supply the C (carbon) needed for purine ring synthesis?
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Which of the following is TRUE regarding purine synthesis de novo?
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A patient presents with recurrent fungal and viral infections as well as abnormalities in her aorta that have been present since birth. Which of the following conditions best fits this clinical pattern?
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Which of the following sets of clinical features are typical of hereditary angioedema?
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Choose the most common primary immunodeficiency:
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Which of the following is TRUE regarding Moraxella catarrhalis?
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Choose the bacterium that is more likely to cause otitis externa, NOT otitis media.
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Which of the following is an example of a secondary immunodeficiency?
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Which of the following antigout against is good for both prophylactic acid?
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Which viral infection is thought to be linked to development of Bell’s palsy?
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Choose the TRUE statement regarding virulence factors of Neisseria meningitidis.
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Which of the following organisms is NOT a common cause of meningitis?
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Which of the following types of infection best characterizes the immunosuppression due to isolated IgA deficiency?
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Which of the following is associated with immunosuppression due to glucocorticoid use?
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Why does demyelination lead to death of neurons in MS patients?
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Which of the following types of infection best characterizes the immunosuppression due to isolated IgA deficiency?
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Study Notes
Lesch-Nyhan Syndrome
- Lesch-Nyhan syndrome is a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
- Patients with Lesch-Nyhan syndrome frequently have hyperuricemia, which can lead to gouty arthritis.
Charcot-Marie-Tooth Disease
- Charcot-Marie-Tooth disease is also known as hereditary sensory and motor neuropathy.
Gout
- Gout is characterized by an overproduction and accumulation of uric acid, leading to inflammation and pain.
- Allopurinol is a medication used to treat gout by reducing the production of uric acid.
Multiple Sclerosis
- Initial presentation of multiple sclerosis often includes vision problems, numbness, weakness, or tingling in the face, arms, or legs.
- Demyelination in multiple sclerosis leads to death of neurons.
Bell's Palsy
- Bell's palsy is thought to be linked to viral infections.
Polyneuropathies
- Polyneuropathies are a group of disorders that affect multiple nerves.
Purine Synthesis
- Folate is the coenzyme form of vitamin B9 that helps supply the carbon needed for purine ring synthesis.
- De novo purine synthesis is the process by which the body creates new purine molecules from scratch.
Immunodeficiency
- Isolated IgA deficiency is a primary immunodeficiency characterized by an inability to produce immunoglobulin A (IgA) antibodies.
- Glucocorticoid use is a common cause of secondary immunodeficiency.
Infectious Diseases
- Moraxella catarrhalis is a bacterium that can cause otitis externa, but not otitis media.
- Neisseria meningitidis has virulence factors that contribute to its ability to cause meningitis.
- Pseudomonas aeruginosa is a bacterium that can cause otitis externa.
- Hereditary angioedema is a condition characterized by recurring episodes of swelling.
Other
- Human Immunodeficiency Virus (HIV) is an example of a secondary immunodeficiency.
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Description
Test your knowledge on Charcot-Marie-Tooth disease (hereditary sensory and motor neuropathy) by choosing the TRUE statement among the options provided.