An Intro to An Intro To Disease

Medicine is NOTHING without disease.

Time to understand how the body fails.

This review will focus on how on one disease

but milking it.
Case To Consider
A 3-year-old boy is brought to his pediatrician with a fever, tachypnea,
and a cough productive of rusty sputum.

What is the differential diagnosis?

Case To Consider
A 3-year-old boy is brought to his pediatrician with a fever, tachypnea,
and a cough productive of rusty sputum.

What is the differential diagnosis?

• Upper Respiratory Infection (URI)
• Acute Sinusitis
• Aspiration
• IgA and IgG Subclass Deficiencies
• Bronchopulmonary Dysplasia
Case To Consider
A 3-year-old boy is brought to his pediatrician with a fever, tachypnea,
and a cough productive of rusty sputum. He has a history of recurrent
lung and skin infections. He has had several fungal infections of his skin,
as well as an abscess that formed where he scraped his arm.

What does fungal infections imply?

Case To Consider
A 3-year-old boy is brought to his pediatrician with a fever, tachypnea,
and a cough productive of rusty sputum. He has a history of recurrent
lung and skin infections. He has had several fungal infections of his skin,
as well as an abscess that formed where he scraped his arm.

What does fungal infections imply?

- Immunodeficiency
Case To Consider
A 3-year-old boy is brought to his pediatrician with a fever, tachypnea,
and a cough productive of rusty sputum. He has a history of recurrent
lung and skin infections. He has had several fungal infections of his skin,
as well as an abscess that formed where he scraped his arm. An x-ray of
the chest shows a normal thymic shadow but some hilar
lymphadenopathy.
What disease does the normal thymic shadow rule out?
Case To Consider
A 3-year-old boy is brought to his pediatrician with a fever, tachypnea,
and a cough productive of rusty sputum. He has a history of recurrent
lung and skin infections. He has had several fungal infections of his skin,
as well as an abscess that formed where he scraped his arm. An x-ray of
the chest shows a normal thymic shadow but some hilar
lymphadenopathy.
What disease does the normal thymic shadow rule out?
DiGeorge (22q11.2 delection syndrome)
Case To Consider
A 3-year-old boy is brought to his pediatrician with a fever, tachypnea,
and a cough productive of rusty sputum. He has a history of recurrent
lung and skin infections. He has had several fungal infections of his skin,
as well as an abscess that formed where he scraped his arm. An x-ray of
the chest shows a normal thymic shadow but some hilar
lymphadenopathy. Further questioning of the parents reveals a
maternal male cousin who died at 5 years of age from severe
pneumonia and a maternal uncle who has had two surgeries for
intracranial fungal infections.
Questions
A 3-year-old female is found to have unusual susceptibility to infections
by catalase-producing organisms. This patient likely has a problem with
the function of which of the following cell types?

A. B cells
B. T cells
C. Natural killer cells
D. Neutrophils
E. Eosinophils
Questions
A 3-year-old female is found to have unusual susceptibility to infections
by catalase-producing organisms. This patient likely has a problem with
the function of which of the following cell types?

A. B cells
B. T cells
C. Natural killer cells
D. Neutrophils
E. Eosinophils
Questions
A 5-year-old female suffers from recurrent infections by Aspergillus
species, Pseudomonas species, and Staphylococcus aureus. The
patient's neutrophils are examined in the laboratory and they fail to
react during the nitroblue tetrazolium test. Which of the following is
most likely dysfunctional in this patient?

A. Lymphocytes
B. Immunoglobulin class switching
C. Superoxide dismutase
D. Myeloperoxidase
E. Respiratory burst
Questions
A 5-year-old female suffers from recurrent infections by Aspergillus
species, Pseudomonas species, and Staphylococcus aureus. The
patient's neutrophils are examined in the laboratory and they fail to
react during the nitroblue tetrazolium test. Which of the following is
most likely dysfunctional in this patient?

A. Lymphocytes
B. Immunoglobulin class switching
C. Superoxide dismutase
D. Myeloperoxidase
E. Respiratory burst
Questions
A 5-year-old female suffers from recurrent infections by Aspergillus
species, Pseudomonas species, and Staphylococcus aureus. The
patient's neutrophils are examined in the laboratory and they fail to
react during the nitroblue tetrazolium test. Which of the following is
most likely dysfunctional in this patient?

A. Lymphocytes
B. Immunoglobulin class switching
C. Superoxide dismutase
D. Myeloperoxidase
E. Respiratory burst
Questions
A father brings his 3-year-old son to the pediatrician because he is concerned
about his health. He states that throughout his son's life he has had
recurrent infections despite proper treatment and hygiene. Upon reviewing
the patient's chart, the pediatrician notices that the child has been infected
multiple times with S. aureus, Aspergillus, and E. coli. Which of the following
would confirm the most likely cause of this patient's symptoms?

A. Negative nitroblue-tetrazolium test

B. Normal dihydrorhodamine (DHR) flow cytometry test
C. Positive nitroblue-tetrazolium test
D. Increased IgM, Decreased IgG, IgA, and IgE
E. Increased IgE and IgA, Decreased IgM
Questions
A father brings his 3-year-old son to the pediatrician because he is concerned
about his health. He states that throughout his son's life he has had
recurrent infections despite proper treatment and hygiene. Upon reviewing
the patient's chart, the pediatrician notices that the child has been infected
multiple times with S. aureus, Aspergillus, and E. coli. Which of the following
would confirm the most likely cause of this patient's symptoms?

A. Negative nitroblue-tetrazolium test

B. Normal dihydrorhodamine (DHR) flow cytometry test
C. Positive nitroblue-tetrazolium test
D. Increased IgM, Decreased IgG, IgA, and IgE
E. Increased IgE and IgA, Decreased IgM
Questions
A 2-year-old girl comes to the clinic because of pain in her right thigh. Her
past medical history is significant for one episode of aspergillus pneumonia,
recurrent impetigo secondary to staphylococcus aureus infection, and severe
diaper rash secondary to candidiasis infection. Examination findings are
suggestive of osteomyelitis. Reflecting on her past medical history and
current presentation concerns are raised about a more serious underlying
etiology that has predisposed her to recurrent infections. Which of the
following tests is most likely to be abnormal?

A. Flow cytometry using CD11 and CD 18 monoclonal antibodies

B. Myeloperoxidase staining of neutrophils
C. Dihydrorhodamine test
D. Sweat chloride test
E. T cell and absolute lymphocyte count
Questions
A 2-year-old girl comes to the clinic because of pain in her right thigh. Her
past medical history is significant for one episode of aspergillus pneumonia,
recurrent impetigo secondary to staphylococcus aureus infection, and severe
diaper rash secondary to candidiasis infection. Examination findings are
suggestive of osteomyelitis. Reflecting on her past medical history and
current presentation concerns are raised about a more serious underlying
etiology that has predisposed her to recurrent infections. Which of the
following tests is most likely to be abnormal?

A. Flow cytometry using CD11 and CD 18 monoclonal antibodies

B. Myeloperoxidase staining of neutrophils
C. Dihydrorhodamine test
D. Sweat chloride test
E. T cell and absolute lymphocyte count
Questions
A 7-year-old girl comes to the clinic because of candidiasis, recurrent UTIs,
and recurrent skin infections which have been cultured and found to be
caused by Staphylococcus aureus. Physical examination shows that the
patient has oral thrush and discoloration in the axillary and groin regions.
The patient's mother reports that her daughter has been seen multiple times
for intertrigo. Which of the following diagnostic tools would be most helpful
in confirming this patient's diagnosis?

A. Blood smear
B. FISH
C. Dihydrorhodamine test
D. Chest X-ray
E. Lymph node biopsy
Questions
A 7-year-old girl comes to the clinic because of candidiasis, recurrent UTIs,
and recurrent skin infections which have been cultured and found to be
caused by Staphylococcus aureus. Physical examination shows that the
patient has oral thrush and discoloration in the axillary and groin regions.
The patient's mother reports that her daughter has been seen multiple times
for intertrigo. Which of the following diagnostic tools would be most helpful
in confirming this patient's diagnosis?

A. Blood smear
B. FISH
C. Dihydrorhodamine test
D. Chest X-ray
E. Lymph node biopsy
Questions
A 5-year-old boy comes to the clinic because of persistent nonproductive
cough and recurrent opportunistic infections. His mother reports that the
symptoms first started 2 years ago and previous physicians suspected an
immune deficiency disorder. A chest X-ray shows patchy infiltrates and
diffuse clouding. Bronchiolar lavage identifies numerous neutrophils
arranged in isolated conglomerates. Nitroblue tetrazolium dye reduction test
is negative. Which enzyme is most likely to be deficient in this child?

A. Alpha-ketoglutarate dehydrogenase
B. Dihydrofolate reductase
C. Glutathione reductase
D. NADPH oxidase
E. Topoisomerase
Questions
A 5-year-old boy comes to the clinic because of persistent nonproductive
cough and recurrent opportunistic infections. His mother reports that the
symptoms first started 2 years ago and previous physicians suspected an
immune deficiency disorder. A chest X-ray shows patchy infiltrates and
diffuse clouding. Bronchiolar lavage identifies numerous neutrophils
arranged in isolated conglomerates. Nitroblue tetrazolium dye reduction test
is negative. Which enzyme is most likely to be deficient in this child?

A. Alpha-ketoglutarate dehydrogenase
B. Dihydrofolate reductase
C. Glutathione reductase
D. NADPH oxidase
E. Topoisomerase
Wrap Up
What medical treatments are available for this condition?

What therapy or procedure provides a definitive cure for this patient?

Wrap Up
What medical treatments are available for this condition?
Antibiotics
Interferon-α, an immunomodulatory

What therapy or procedure provides a definitive cure for this patient?

Bone marrow transplantation
Time for Statistics
Number Needed To Treat
A placebo-controlled clinical trial is conducted to assess whether natalizumab, a
monoclonal antibody against α4-integrin, is effective in the treatment of multiple
sclerosis. A total of 1000 patients are enrolled and assigned to one of two groups.
Half of the study participants are randomly assigned to receive natalizumab, and
half receive placebo. The investigators report that 15 patients receiving
natalizumab and 25 patients receiving placebo experience relapse of the disease.
Based on these results, which of the following is the best estimate of the number
needed to treat with natalizumab to prevent relapse in a single person?

A. 20
B. 34
C. 40
D. 50
E. 60
Number Needed To Treat
A placebo-controlled clinical trial is conducted to assess whether natalizumab, a
monoclonal antibody against α4-integrin, is effective in the treatment of multiple
sclerosis. A total of 1000 patients are enrolled and assigned to one of two groups.
Half of the study participants are randomly assigned to receive natalizumab, and
half receive placebo. The investigators report that 15 patients receiving
natalizumab and 25 patients receiving placebo experience relapse of the disease.
Based on these results, which of the following is the best estimate of the number
needed to treat with natalizumab to prevent relapse in a single person?

A. 20
B. 34
C. 40
D. 50
E. 60
Number Needed To Treat
A placebo-controlled clinical trial is conducted to assess whether a new oral
hypoglycemic agent is more effective than standard therapy. A total of 1000
patients with diabetes mellitus are enrolled and assigned to one of two groups. Half
of the study participants are randomly assigned to receive the new drug, and half
receive placebo. The investigators report that 250 patients receiving drug and 150
patients receiving placebo achieve the target level of glycemic control. Based on
these results, which of the following is the best estimate of the number needed to
treat of the new drug?

A. 1
B. 2
C. 3
D. 4
E. 5
Number Needed To Treat
A placebo-controlled clinical trial is conducted to assess whether a new oral
hypoglycemic agent is more effective than standard therapy. A total of 1000
patients with diabetes mellitus are enrolled and assigned to one of two groups. Half
of the study participants are randomly assigned to receive the new drug, and half
receive placebo. The investigators report that 250 patients receiving drug and 150
patients receiving placebo achieve the target level of glycemic control. Based on
these results, which of the following is the best estimate of the number needed to
treat of the new drug?

A. 1
B. 2
C. 3
D. 4
E. 5
A 45-year-old women comes to his physician after flying from London to
Hawaii, with chest pain and no leg swelling. After consulting Dr. Google,
she is concerned that she might have a pulmonary embolism. In
counseling this patient about the screening test most widely used, you
tell the patient that if the result is positive, a confirmatory test will be
needed. This screening test can be said to have a high level of which of
the following?

A. Negative predictive value

B. Positive predictive value
C. Prevalence
D. Sensitivity
E. Specificity
A 45-year-old women comes to his physician after flying from London to
Hawaii, with chest pain and no leg swelling. After consulting Dr. Google,
she is concerned that she might have a pulmonary embolism. In
counseling this patient about the screening test most widely used, you
tell the patient that if the result is positive, a confirmatory test will be
needed. This screening test can be said to have a high level of which of
the following?

A. Negative predictive value

B. Positive predictive value
C. Prevalence
Screening tests have high senSitivity,
D. Sensitivity
Confirmatory tests have high speCificity
E. Specificity
A new program is working on screening a city with a population of
30,000 for diabetes mellitus. 10% of this population is known to have
diabetes mellitus. A diagnostic test using serum fructose-6-phosphate is
used for the screening. The sensitivity of the test is 80% and the
specificity is 95%. Within this population, how many diabetic patients
will fail to be identified?

A. 600
B. 1,350
C. 2,400
D. 3,000
E. 7,000
A new program is working on screening a city with a population of
30,000 for diabetes mellitus. 10% of this population is known to have
diabetes mellitus. A diagnostic test using serum fructose-6-phosphate is
used for the screening. The sensitivity of the test is 80% and the
specificity is 95%. Within this population, how many diabetic patients
will fail to be identified?

A. 600
B. 1,350
C. 2,400
D. 3,000
E. 7,000