Archive | January 2011

Echolalia

Repetition of words or sounds said by others.

Normal:

In infants it is a normal part of language development.

Abnormal:

In adults with mental health disorders it refers to the mechanical and meaningless repetition of the words of another person (as in schizophrenia).

In children with autism.

In individuals with seizure disorders.

Epidermolysis bullosa

A connective tissue disease. Skin is fragile and tears easily as a result of mild trauma.

Etiology:

An inherited disorder caused from a mutation in the keratin or collagen gene.

Incidence of 1/50,000.

Its severity ranges from mild to lethal.

Manifestations:
 causing blisters in the skin and mucosal membranes.

Sick Sinus Syndrome

Irregular firing by the SA node causes a slower-than-normal heart rate (sometimes alternating with rapid heart rates).

Diagram below show electrical conduction pathway through the heart.

Gout

A disorder of purine metabolism and form of arthritis.

Uric acid  crystallizes in the form of monosodium urate, precipitating in joints, on tendons, and in the surrounding tissues. Uric acid is the purine metabolism end product.

Pathophysiology:

Uric acid crystallization and precipitation triggers are not well understood. Factors believed to be important in triggering an acute episode of arthritis include cool temperatures and rapid changes in uric acid levels.

Etiology:

  • Diet: increased protein intake, alcohol consumption or high dietary fructose intake
  • Sudden weight loss
  • chemotherapy
  • Genetic predisposition
  • Hypouremic acid secretion by the kidneys

Medical conditions such as:

  • metabolic syndrome
  • abdominal obesity
  • Hypertension
  • insulin resistance
  • lipid dyscrasias

Medications correlated with gout include:

  • cyclosporins
  • immunosuppressants
  • diuretics

 

Manifestations:

  • presents with recurrent attacks of acute inflammatory arthritis, particularly of the big toe
  • Hyperuricemia

Treatment and Management:

  1. Medications – non-steroidal anti-inflammatories, colchicine and glucocorticoids
  2. Dietary Changes (lower protein intake and increase dairy product consumption)
  3. Maintain physical fitness level
  4. Treatment and management of insulin resistance