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Niemann pick

Niemann pick is a type of lysosomal storage disease and is an inherited condition that involves the metabolism of lipids. This leads to a breakdown in the of use and transport of fats and cholesterol in the body. The disease affects the body's ability to mobilize fat within cells. When this fat (cholesterol and lipids) accumulates in large amounts, it causes dysfunction of the cell and untimely death of a person. Harmful levels of lipids accumulate in the spleen, lungs, liver, bone marrow and brain. Niemann pick disease is more common in children. The disease is classified into three major types namely Niemann pick A, B and C. Niemann pick Type A and Type B are caused by the deficiency in an enzyme called acid sphingomyelinase. This enzyme is found within the lysosome cells and is an essential component in metabolizing a lipid called sphingomyelin.

Symptoms are related to the type of disease.

Type A: occurs in children. Children may not survive as the condition affects the nervous system. Symptoms include:

  • Enlarged spleen and liver
  • Progressive deterioration of the nervous system
  • Stunted growth
  • No weight gain.

Type B: occurs in childhood, known as the non-neurological type as the nervous system is not affected. Children survive into adulthood.

  • Growth retardation
  • Splenomegaly
  • High cholesterol and lipid levels in the blood
  • Low platelet levels
  • Lung infection
  • Problems in the functioning of the lungs.

Type C: can occur in children or in adults

  • Severe liver disease
  • Breathing difficulties
  • Seizures
  • Poor muscle tone
  • Developmental delay
  • Eye problem
  • Problems in feeding
  • Lack of coordination.

Other general symptoms include:

  • Seizures
  • Cataplexy (sudden loss of muscle tone)
  • Dystonia (excessive muscle contraction)
  • Accumulation of sphingomyelin in the central nervous system shows symptoms and signs like slurred speech (dysarthria) and abnormal swallowing (dysphagia)
  • Recurrent pneumonia
  • Difficulty in swallowing and eating
  • Sleep disturbances
  • Sleep inversion (sleepiness during the day and wakefulness during the night)
  • Bones are affected.

Diagnosis depends on the type of Niemann pick disease

For Type A or B: Blood sample or bone marrow sample is used to measure the level of acid sphingomyelinase in the blood.
For Type C: A small sample is skin is taken to test how the cells move and store cholesterol.

Other tests may include brain MRI, genetic testing and eye test to confirm if there is difficulty in normal eye movement

Syphilis Test RPR

The Syphilis test, RPR test is an initial screening test used to diagnose syphilis. Syphilis RPR (Rapid Plasma Reagin) test is a non-treponemal test. A nontreponemal test uses a mixture of cardiolipin with lipids to detect reagin, which is present in the sera of patients with syphilis. Cardiolipins are released when a treponeme bacteria damages cells. If cardiolipin is found in the blood sample, it means an active infection. All reactive nontreponemal tests should be followed up with treponemal testing (FTA-ABS test) to confirm the diagnosis. The FTA-ABS test will help distinguish between syphilis and other infections. Syphilis RPR test is also used to see how treatment for syphilis is working. After treatment with antibiotics, the levels of syphilis antibodies should fall. These levels can be monitored with another RPR test. Unchanged or rising levels can mean a persistent infection. No special preparation is required on the part of the individual who is to be tested.


Phospholipids

Phospholipids are the principal components of cell membranes. These lipids form a bilayer enclosing the cytoplasm and other cell components and allow selective permeation into and out of the cell. These phospholipids protect the cell from chemicals, toxins, pathogens and free radicals. The phosphate head portion is hydrophilic (capable of mixing with water) while the lipid tail is hydrophobic; thus making phospholipids 'amphipathic'. Phospholipids are not triglycerides. Fatty acids are better absorbed from phospholipids as they dissolve in aqueous solutions. Phospholipids are often added to supplements and infant milk powder. Phospholipids are good carriers of Omega 3 PUFAs that are good for infant growth.


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Collection of Pages - Last revised Date: September 22, 2019