Thiamine Deficiency

Thiamine (Vitamin B1), like all vitamin B molecules, are water soluble. So our bodies need to be constantly resupplied with Vitamin B. A deficiency can lead to health problems such as Beriberi and Korsakoff's syndrome.

1. Beriberi
Vitamin B1 acts as a coenzyme in carbohydrate metabolism and in pentose phosphate pathway. Without it, the body cannot properly extract energy from food. Pyruvic acid builds up and causes loss of mental awareness, difficulty breathing, and heart problems.

2. Korsakoff's Syndrome
Korsakoff's syndrome is more common among alcoholics. Like with Beriberi, the brain needs to be able to extract energy from carbohydrates. Without enough energy, the brain cannot properly function. This can lead to degeneration of mammillary bodies or disruptions in signal pathways. As a result, a patient may experience memory loss and confabulation.

Anemia

Anemia is when you have a lack of red blood cells or hemoglobin. A patient can be diagnosed with anemia based on their CBC. We would look specifically at the hematocrit (concentration of red blood cells and concentration of hemoglobin).

We cannot depend on O2 saturation (SpO2) because that reading could still be high in an anemic patient. SpO2 is only an indication of how much of the patient's hemoglobin is carrying oxygen. Even though the patient may have less hemoglobin, the hemoglobin can still be working at full capacity. A low SpO2 (lower than 90%) is called hypoxemia.

Thanks to Jose!

Cataracts

A cataract is a condition in which the lens of the eye become cloudy.

Why is diabetes a risk factor for cataract formation?

The eye contains an anterior and posterior chamber filled with aqueous humor. Aqueous humor contains glucose. If there is a high level of glucose, a lot of it gets converted into sorbitol. The sorbitol collects in the lens and leads to cataract formation.


How do steriod medications lead to cataracts?

Steriods are used as inflammatory medication for conditions like asthma. However they can cause osmotic movement of water into the lens, leading to swelling and opacity. Steriods can also denature the proteins within the eye, leading to opacification.

Thanks to Danny!

DiGeorge Syndrome

For DiGeorge's Syndrome, remember CATCH22!

C - Cardiac defects
A - Abnormal facies
T - Thymic hypoplasia
C - Cleft palate
H - Hypocalcemia
22 - Chromosome 22 mutation

Now why would a mutation on chromosome 22 lead to thymic hypoplasia? Well chromosome 22 is responsible for the development of the thymus from the third and fourth pharyngeal pouches. No thymus, no T-cell formation. No T cells, immunodeficiency.

Thanks to my friends: Tomasz, Danny, and Joy!