DiGeorge syndrome is a 22q11.2 microdeletion.

Embryologically, the neural crest fails to

migrate into the derivatives of the third and fourth pharyngeal/branchial pouches. The
consequent parathyroid and thymic hypoplasia results in hypocalcemia and T cell deficiency,
respectively. Patient will have Trousseau sign positive as well as Chvostek sign positive.

Glucagonoma presents with hyperglycemia (often as newly diagnosed DM) and necrolytic
migratory erythema (blistering erythematous plagues with central clearing) affecting the groin,
face, and extremities. The diagnosis is made by detecting elevated glucagon levels. Physical
examination shows coalescing erythematous plagues with crusting and scaling at the borders
and central areas of brownish induration.

Thiazide diuretics causes hypercalcemia by increasing the distal tubular reabsorption of Ca 2+.
The increased circulating calcium levels result in suppression of parathyroid hormones, which
distinguishes this effect from hyperparathyroidism.

Graves ophthalmopathy is caused by stimulation of orbital fibroblasts by thyrotropin receptor

antibodies and cytokines released by activated T-cell. Excess deposition of extracellular
glycosaminoglycans and inflammatory infiltration lead to expansion of extraocular muscles and
retro-orbital tissues. Glucocorticoids improve graves ophthalmopathy by decreasing the
severity of inflammation and reducing the excess extraocular volume.

Acid maltase (alpha-glucosidase) deficiency presents in early infancy with cardiomegaly,

macroglossia and profound muscular hypotonia. Abnormal glycogen accumulation within
lysosomes vesicles is seen on muscle biopsy (PAS positive). Baby will present with poor feeding,
hepatomegaly and hypotonia in all 4 limbs.

Glucocorticoids are predominantly catabolic, causing muscle weakness, skin thinning, impaired
wound healing, osteoporosis, and immunosuppression. However, they also cause increased
hepatic synthesis of gluconeogenic and glycogenic proteins to increase glucose availability. This,
along with peripheral antagonism of insulin, contributes to the development of hyperglycemia.

The cardiac function curve for compensated heart failure is characterized by normal resting
cardiac output with elevated right atrial pressure. Myocardial damage from a heart attack
would cause a depressed cardiac function curve and MSFP would increase secondary to
retention of salt and water. Decompensated HF is characterized by depressed cardiac output
with severely increased preload.
The piriform recesses are small cavities that lie on either side of the laryngeal orifice. They are
bound medially by the aryepiglottic folds and laterally by the thyroid cartilage and thyrohyoid
membrane. During normal swallowing, food is diverted by the epiglottis laterally through the
piriform recesses into the esophagus without endangering the airway. A thin layer of mucosa
overlying the piriform recess is all that protects the superficially coursing internal laryngeal
nerve, a branch of the superior laryngeal nerve (part of vagus nerve). Damage to the internal
laryngeal nerve can occur when foreign bodies (fish bone or chicken) become lodged in the
piriform recess or during attempts to retrieve them. The resulting reduction in laryngeal
sensation can impair the cough reflex.