Flashcards in 4/6 - UW 49 Deck (39):
Avoidant personality order affects at least 4 of these areas:
1. avoid social contact at work
2. avoids intimate relationships
3. needs certainty of being liked
4. preoccupied with rejection
5. new social situations
6. low self esteem
7. avoids risk
What 3 gene mutations are associated with early onset Alzheimer's?
- Amyloid precursor protein (APP): chr21
- Presenilin 1: chr14
- Presenilin 2: chr1
What disease is ApoE4 mutation associated with?
Late onset Alzheimer disease
What defect is associated with Familial Hypercholesterolemia?
AD mutation in LDL-R
What is the molecular defect in Hypertrophic cardiomyopathy?
AD mutation in the BETA-myosin heavy chain
What is the most common mutation in Duchenne and Becker muscular dystrophy?
DELETION of the dystrophin gene (which encodes the dystrophin protein on chrX p21)
Which muscular dystrophy is more severe, Duchenne or Becker? Why?
Duchenne is more severe, occurs with a frameshift deletion in chrX p21 producing NONfunctional dystrophin protein
What sort of deletion of chrX p21 would lead to Becker MD instead of Duchenne?
Deletion that is a multiple of 3, preserving the reading frame for dystrophin protein (truncated by functional)
What is the function of dystropin protein?
Connects actin to transmembrane proteins attached to ECM
What CV effect does Nitroprusside have?
Short acting, balanced venous AND arterial vasodilator, decreasing LV preload and afterload
In what vitamin deficiency can you commonly see "corkscrew" hairs with perifollicular hemorrhage?
Vit C def (impaired collagen hydroxylation)
What type of lesion will show a "clasp knife" spasticity (initial resistance to passive extension followed by sudden release)?
What is the insular cortex involved in?
- limbic system (integrating emotion and body state)
- ANS control
- Visceral sensation
What disease shows lesions in the caudate nucleus?
What brain defect causes Parkinson's?
Loss of DAergic neurons in the substantia nigra
Where is the lesion in Huntington disease?
What role does the putamen play in movement?
Initiation of movement
Lesions can cause contralateral tremor, bradykinesia, rigidity
Damage to which segment (internal/external) of the globus pallidus results in decreased motion/movement? Increased?
External damage: decreased movement
Internal damage: excessive movement
What is the term for reversal of shunt flow in cardiac defects?
Eisenmenger syndrome (due to irreversible pulm art sclerosis leading to increased pulm vascular resistance)
How does Lactase deficiency lead to diarrhea?
Why does Lactase deficiency cause decreased stool pH?
Bacterial fermentation of undigested lactose produces short chain FAs and excess H+
What is the stool osmotic gap?
290 - 2*(stool Na + K)
Larger gap = more unabsorbed substances = osmotic diarrhea
Smaller gap = secretory diarrhea
Why don't varicose veins cause PE?
Because they're superficial! Not DEEP vein thrombosis
What is Phlegmasia alba dolens?
Painful white leg ("milk leg") due to iliofemoral venous thrombosis in PREGNANT WOMEN
Overexpression of n-myc is seen in what neoplasms?
Small cell carcinoma of the lung
What is DRESS syndrome and what is it associated with?
Drug Reaction Eosinophilia and Systemic Symptoms (fever, LAD, facial edema)
(drug induced herpesvirus reactivation)
Which drugs can induce ANCA associated vasculitis?
Hydralazine (arterial vasodilator)
What drugs are associated with microangiopathic hemolytic anemia?
Chemotherapy (cisplatin, cyclophosphamide)
Long term Lithium treatment requires monitoring what organs?
Kidney (BUN, Cr; nephrogenic DI)
What is Kussmaul sign (not Kussmaul breathing)?
Paradoxical rise in JVP on inspiration due to constrictive pericarditis preventing the RV from accommodating increased venous return
Ceruloplasmin = ???
Wilson's disease tx?
What is the most common appendix tumor?
Carcinoid (after met to liver, can cause wheezing, diarrhea, flushing)
What are clinical signs of platelet defect (vW disease or NSAID use)?
Mucocutaneous bleeding (gums, nose, ecchymoses/petechiae)
What are the clinical signs of coagulopathy?
Hemorrhage (intramuscular, into joints, after surgery)
What does thrombin time measure?
Rate of conversion of fibrinogen to fibrin
What are the most common tumor of the pineal gland?
Germinomas (can cause Parinaud syndrome, ie "dorsal midbrain syndrome": paralysis of upward gaze)
A tumor in what location will cause paralysis of upward gaze?
Pineal gland tumor causing Parinaud syndrome (dorsal midbrain syndrome)