clinical cases

Question 1

What are clinical features associated with vitamin B12 deficiency?

Answer 1

--glossitis, diarrhea, weight loss 
neurological abnormalities (due to the accumulation of odd number fatty acids that are incorporated into cell membranes of nerves--> methylmoleny CoA cannot be converted to succinyl CoA) 
-secondary folate deficiency leading to macrocytic (megaloblastic) anemia

Question 2

What nutritional deficiency can being a vegan cause?

Answer 2

Vitamin B12 due to a lack of animal products and no nutritional supplements

Question 3

What causes Huntington’s disease?

Answer 3

an expansion of CAG (polyglutamine) repeat in the coding region of a gene.
normal 36 (36-39 may not develop the disease or may experience late onset)
> 40 presents with the disease

Question 4

What are common physical findings associated with Huntington’s Disease?

Answer 4

inappropriate behavior and confusion, jerky movements

Question 5

What is anticipation?

Answer 5

earlier age of onset and severity of symptoms correlates with the number of repeats

Question 6

What are the 10 categories that are used to come up with differential diagnoses?

Answer 6

VINDICATED
Vascular, infectious, neoplastic, degenerative/deficiency/drugs, idiopathic/intoxication/iatrogenic, congenital, autoimmune/allergic/anatomic, traumatic, endocrine/environmental/DO

Question 7

What are the 5 factors of vitamin B12 absorption?

Answer 7

1. dietary intake
2. acid-ppepsin in the stomach to liberate Cbl from binding to proteins
3. pancreatic proteases to free Cbl from binding to R factors
4. secretion of IF by parietal cells to bind Cbl
5. an intact ileum w/ functional Cbl-IF receptors

Question 8

What are the mean corpuscular volumes for the different nutritional anemias?

Answer 8

Microcytic: MCV < 80 (deficiency in iron or copper)
Normocytic: MCV: 80-100
Macrocytic: MCV > 100 (deficiency in vitamin B12 or folate)