The diagnosis of Whipple's disease

Article Abstract:

Whipple's disease is a rare bacterial infection that can be hard to diagnose because it affects widely different organs. It typically causes joint disease and intestinal malabsorption. In a 1995 report, researchers used the polymerase chain reaction to diagnose Whipple's disease in a woman with an eye infection. They found evidence of the bacterium in samples of her eye fluid and gastrointestinal tract. Electron microscopy can also reveal the characteristic shape of the bacterium in tissue samples. The detection by PCR of the bacterium in blood cells could lead to a simple, noninvasive diagnostic test. Many patients with Whipple's disease have symptoms similar to sarcoidosis. The PCR test for the Whipple's disease bacterium could rule out the disease in patients with suspected sarcoidosis.

Editorial, Polymerase chain reaction, Malabsorption syndromes, Whipple's disease

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Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

Article Abstract:

Not all the cells in patients with some genetic mutations will actually have the mutation. This occurs often when a gene spontaneously mutates. Some cells will have the mutated gene and others will not. This condition is called mosaicism because the cells constitute a mosaic. A 12-year-old girl with a history of seizures and autism was tested for a possible genetic disorder. Several different tests had to be done on several different body tissues. She was eventually diagnosed with tuberous sclerosis, a disease characterized by tumor formation in various organs. Only one-third of her white blood cells had the gene mutation that causes this disease.

Analysis, Gene mutations, Gene mutation, Identification and classification, Genetic screening, Genetic testing, Tuberous sclerosis

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