MedicoNotebook

4 Neiman pick , Tay Sach , Hunter's

This story is about a boy called Niemann who was fond of fried foods

one fine morning, he decided to have cherries fried in oil for lunch

so he set out to pick cherries from the lawn. he went riding on his pet zebra

he reached the garden & started picking up cherries

while our dude Neiman was busy picking up cherries,
he was being watched by
a old hunter

The hunter wanted to steal the zebra

But

Another boy
TaySach was in the garden picking up onions

Tay sach was a brave boy

he scared away the hunter

neiman was happy on seeing this
& befriended taysachs
as a token of friendship, he gifted taysach cherries & oil for a great lunch

he also gave taysach a ride on his zebra back home

moral of this weird story

neiman pick dis
*zebra body
*cherry red spot
*staining with oil red o

tay sach dis
*zebra bodies
*cherry red spot
*staining with oil red o
*onion ring deposits in skin

hunter disease
*zebra bodies

-----------------------------

1. They're all autosomal recessive, with the exception of Fabry's and Hunter's, which are both X-linked recessive.

2. Hurler and Hunter's both start with an H, and both accumulateHeparan sulfate. (Hopefully that will help you remember that they accumulate dermatan sulfate too).

3. Ashkenazi Jews have a higher risk of Gaucher's, Niemann-Pick, and Tay-Sachs.

4. Gaucher's spares the Brain., has crummpled tissue paper appearance.

5. Remember: "globoid cells" = Krabbe's.

6. "Cherry-Red" (spot on macula) is hyphenated. So are "Niemann-Pick" and "Tay-Sachs." :)

7. Hunters is X-linked. I view a Hunter shooting his bow at a X (target).

8. Niemann-Picks - Sphingomyelinase. No man picks is nose with is Sphinger (finger).

9. As above regarding Hunter's vs Hurlers. Hurlers you get corneal clouding, so you cannot be a good hunter.

10. HurLer's is alpha-L-iduronidase. Hunters, which is a similar disease, is the other one (iduronate sulfatase). "I just remember one, then know that the other one is the other one."

11. Metachromatic Leukodystrophy : Arysulfatase A deficiency

0 Stratified cuboidal epithelium

The ducts of all the following glands consist of stratified cuboidal epithelium except ?
A) Sweat glands
B) Sebaceous glands
C) Salivary glands
D) Pancreas

ANSWER:

2 Coarctation of Aorta - 1st two ribs spared from Notching

Rib notching with coarctation:

Inferior rib notching is seen mostly in adults (post-ductal coarctation) over age 20 and is not seen in infants who usually have pre-ductal coarctation.
Location: ribs 3-9 (most pronounced in 3rd +4th ribs, less pronounced in lower ribs); 1st+ 2nd ribs do not participate because the posterior intercostal arteries originate from the costocervical trunk (not post stenotic Aorta).
Site: central + lateral thirds of posterior rib.

Almost always Bilateral with exceptions:

Unilateral on left side: left aortic arch with aberrant right subclavian artery below coarctation.
Unilateral on right side:
-- normal aortic arch with coarctation proximal to origin of left subclavian artery
-- right aortic arch with anomalous left subclavian artery below coarctation.

Thorax - Blood Supply:

First two posterior intercostal arteries <--- from superior intercostal artery <--- from costocervical trunk <--- from subclavian artery.
Posterior intercostal arteries - 3rd and below are branches from thoracic aorta.

Anterior intercostal arteries receive their supply:

upper 6: from internal thoracic artery
lower 5: from its branch (muscolophrenic artery).

Internal thoracic artery comes off subclavian artery also.

What happens in Coarctation ?

Coarctation of thoracic aorta results in absent flow in posterior intercostal arteries (3rd and below).

However, Internal thoracic artery & musclophrenic artery sends blood to anterior intercostal arteries which continues into posterior intercostal arteries (3rd and below).

The 1st and 2nd posterior intercostal arteries receive blood from subclavian (unlike rest of posterior intercostal arteries).

Why are 1st two ribs spared ?

The high pressure first two posterior intercostals anastomose with the first two anterior intercostals which are also high pressured, so the anastomosis does not enlarge. (Hence no notching)

But 3rd posterior intercostals and those below it, are from descending aorta beyond the coarctation, so they have low pressure. The blood from anterior intercostals which are high pressured rushes into the low pressured posterior intercostals thus enlarging the anastamosis forming collaterals.

Ref: http://au.answers.yahoo.com/question/index?qid=20100618000909AAWKP8R

2 Coarctation with anomalous post-coarctation origin of the right subclavian artery.

Q. A 16 year old with headache and hypertension has a chest radiograph which demonstrates plain radiographic signs of coarctation of the aorta. Further investigations reveal anomalous post-coarctation origin of the right subclavian artery. The ribs most likely to demonstrate inferior rib notching would be:

a. Left third to ninth ribs

b. Bilateral third to ninth ribs

c. Right third to ninth ribs

d. Bilateral first and second ribs

ANSWER:

Question source : http://www.cambridge.org/aus/catalogue/catalogue.asp?isbn=9780511671395&ss=exc