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Most common cause of neural tube defects

Folate deficiency

* MC nutritional deficit in US

1

MCC of congenital malformation in US

Ethanol use during pregnancy

3

MCC of congenital intellectual disability in US?

Fetal alcohol syndrome

4

3 amino acids modfied in the golgi appartus

1. asparagine
2. serine
3. threonine

5

hyperflexible joints, arachnodactyly, aortic dissection, lens dislocation

Marfan syndrome

(defective fibrillin, which holds together trophoelastin subunits)

6

Heriditary nephritis, cataracts, sensorineural hearing loss

Alport syndrome

(defective Type IV collagen, found in basement membrane of eye, ear, kindey); cant see, cant pee, cant hear high C

7

Unilateral facial drooping involving the forehead

Bell's palsy

*if forehead unaffected, think stroke

8

Ptosis, miosis and anhydrosis

Horner's syndrome

*lesion of spinal cord above T1

9

Worst HA of life

Subarachnoid hemorrhage

10

lucid interval

epidural hematoma

11

Bloody CSF

subarachnoid hemorrhage

12

MCC of subdural hematoma (anatomically)

torn bridging veins
(hitting head of old person/ alcoholic; shaking baby syndrome)

13

MCC of epidural hematoma

Rupture of middle meningeal artery(banch of maxillary)--> frequently secondary to fracture of temporal bone

14

Urinary incontinence, ataxia, cognitive dysfunction

Normal pressure hydrocephalus (wet, wacky, wild)

*sx due to expansion of ventricles compressing corona radiata

15

Amyloid deposits in gray matter of brain

senile plaques (Alzheimers)

16

Drooling, sweating, agitated farmer

Organophosphate poisoning

17

Medical treatment for pheochromocytoma

Alpha antagonist--> usually phenoxybenzamine (binds irreversibly)

18

selective A1 antagonist used to treat BPH

Tamsulosin--> is specific for alpha 1A, Alpha 1D receptors found in the prostate; little effects on the alpha 1b receptors found in vasculature

19

continuous machine like heart murmur

patent ductus arteriosus (PDA)

* is a non-cyanotic shunt (L to R)

20

"boot-shaped heart"

Tetralogy of Fallot

* is a sign of right ventricular hypertrophy; can be indicative of pulmonary HTN in adult

21

rib notching, or pulsating pulses on ribs

coarctation of aorta

22

MCC congenital cardiac anomaly

VSD (ventricular septal defect)

23

MCC congenital cause of early cyanosis

Tetralogy of Fallot

* review the 4 issues
*transposition of the great vessels may be a close 2nd, causes profound cyanosis

24

bounding pulses, head-bobbing, diastolic murmur

aortic regutgitation

* bounding pulses due to the wide pulse pressures (normal systolic, but diastolic much lower due to loss of blood through incompetent aortic valve

25

bone enlargement, bone pain, arthritis

Paget's disease of bone

26

vertebral compression fractures

osteoporosis

27

positive anterior drawer sign

torn ACL

28

swollen, hard, painful finger joints (which hand joints involved)

osteoarthritis

(DIP and PIP)

29

swollen, boggy, painful finger joints (which joints involved)

rheumatoid arthritis

(PIP and MIP--> spares the DIPs)

30

swollen, red, acutely painful great toe joint

gout

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