Breaking Bad
What drug is used in premature babies to increase their chance of survival, and how does it do this?
Betamethasone
Increases surfactant production in the lungs, among other things, that increase development
A young boy comes to the clinic for a routine checkup. The boy is obese, and his mother says she struggles greatly to keep her child from eating all of the time. What two diagnostic tools can be used to diagnose this child, and what would that test most likely show?
DNA methylation analysis
FISH
Absence of active genes in the fathers chromosome 15 (methylation, deletion, or uniparental disomy)
Describe at least two differences between Medicare and Medicaid
Medicare is 65+
Medicaid is Low income
Medicare is Federally Funded
Medicaid is Federal plus State
Daily Double
Name the gene involved in OI, explain the two major steps in collagen synthesis before exiting the cell, and name the vitamin that is needed in this process
COL1A1 or COL1A2
Hydroxylation then glycosylation
Vitamin C
Explain the difference in tri-nucleotide expansions in noncoding vs coding regions. Give an example for each.
Noncoding- Toxic Loss of transcription Fragile X
Coding- Toxic gain of function Huntington
What three drugs are included in the FOLFOX regimen and what is there MOA?
Flurouracil inhibits Thymidylate Synthase
Leucovorin increases the effectiveness of Fluorouracil
Oxaliplatin causes cross-linkages in the DNA
Daily double
A peripheral blood smear slide is presented to you. The slide shows Howell-Jolly Bodies, Target Cells, and spherocytes. What is the diagnosis? Draw what each of them would look like. Explain why the Howell Jolly bodies and target cells are present.
Hereditary Spherocytosis
The patient has had their spleen removed
Describe 3 out of the 5 questions outlines by choosing Wisely. 100 bonus points if you get all 5
Do I need this test or procedure
What are the Risks
Are there simpler, safer options
What happens if I don't do anything
How much does it cost
Explain the three etiologies of imprinting disorders, and name two specific syndromes that were covered
Methylation of Promoters
Uniparental Disomy
Chromosomal Imbalances (Deletions, insertions, etc)
What are the cytoskeletal proteins found on RBCs that can be dysfunctional in Hereditary Spherocytosis? (Name 2)
Band 3, Spectin, Ankrin, Protein 4.2
A female patient comes into the ED with severe abdominal pain, pale skin and lips, and splenomegaly. Lab values: Hb:8.0 g/dL (Drop of over 2 from baseline), MCV 92 fL, Reticulocytosis, Thrombocytopenia, Negative EMA binding assay
What drug may this patient normally be prescribed after this crisis? What is another function of this drug not related to this patient?
Hydroxyurea, Chemotherapy agent
A patient comes into the clinic with an arm fracture. Upon x-ray you see multiple healed fractures throughout the arm. What are two possible explanations for this? What physical exam finding can help you choose the correct explanation?
OI and Child Abuse
Blue Sclerae, bowed legs, short stature
Explain the pitfalls of current rules around pre-existing conditions.
Life insurance and entities other than health insurance can still up premiums and not accept certain people with preexisting conditions.
Explain the three major pathways for single-strand DNA repair and where they are found in the cell cycle. (Note Homologous and NHEJ are not answers)
Nucleotide excision (G1)
Base excision (Throughout)
Mismatch Repair (Late S, early G2)
Name the two Enzymes involved with ethanols conversion to acetaldehyde, and explain when each one is favored.
Alcohol dehydrogenase
CYP2E1 (Why does this one cause more damage)
This medication inhibits PCSK9 and is indicated in cases of high cholesterol. Name it and explain why this decreases serum cholesterol levels.
Alirocumab
Disallows LDL receptors to be degraded leading to more recycled LDL receptors, decreasing serum LDL
A patient comes in with a faulty nucleotide excision repair enzyme. What three disorder are related to this mechanism. How do you differentiate between them based on presentation?
Xeroderma Pigmentosum Severe UV sensitivity, skin cancer, sometimes cognitive impairments
Cockayne Syndrome: severe neurological deficiency, premature aging, and no increased skin cancer risk
Trichothiodystrophy, tiger tail hair, intellectual disability, no high risk of skin cancer
Describe 3 factors related to populations with a high incidence of premature and low birth weight babies.
Food Deserts
Low Prenatal Health Care
Young Pregnancies
Substance Use
Chronic Conditions
A child comes in presenting with bilateral leukocoria. Genetic testing of both parents reveals neither one is a carrier for the defective gene. Explain the most likely genetic basis for the presenting symptoms.
De novo Germline Mutation
What are the two major pathways involved in the progression of colorectal cancer?
Chromosomal instability (APC->KRAS->p53)
Microsatellite instability
A patient comes in with confusion, ataxia, and nystagmus. The patient was found sleeping in his car with an empty fifth of vodka. What therapeutic regimen would you likely give to this patient?
Lactulose in case of Hepatic Encephalopathy
Thiamine and then glucose in case of Wernicke's Encephalopathy
A patient comes into the clinic for a yearly checkup. Upon physical exam, you, as the medical student, identify the patient as having tendinous xanthomas and corneal arcus in both eyes. In the past, this patient had been tested and told they have a deficiency in the LDL receptor. As the medical student who has watched their bootcamp, what is your diagnosis of the patient? If you name the type of dyslipidemia, you get an extra 100 points.
Type 2 Dyslipidemia, Familial Hypercholesterolemia
Describe what presenteeism is, and how this can cause clinical problems.
Presenteeism is working when ill or experiencing health problems
This can make the problems worse, produce worse output, increase risk of others getting sick, etc.
What is the genetic mutation seen in sickle cell disease, and explain how that mutation leads to its cytoskeletal properties?
Glutamate to a valine in the Beta chain
This causes a reduction in charge, making the hemoglobin more likely to aggregate, causing the sickled cells.
Describe the players involved with Liver cirrhosis
Kupffer cells release many inflammatory, pro-fibrogenic factors such as TGF-B, TNF-a, IL-1B
Stellate cells release inflammatory cytokines (TGF-B) and differentiate into myofibroblast-like cells that produce extracellular matrix