Early diagnosis for metabolic encephalopathy caused by inborn errors of metabolism is very important for the initiation of early treatment and also for prevention of sequela. Metabolic encephalopathy in the form of seizures can result from many inborn errors of metabolism and considering the large number of disorders causing metabolic encephalopathy, enzyme assays or conventional molecular tests are expensive and take considerably long period of time which results in delayed treatment. In our center we have used next generation DNA sequencing technology as an initial diagnostic test to look for about 700 disorders at the same time for the etiologic diagnosis of a 4-month-old female infant suffering from intractable seizures. The patient was found to have glycine encephalopathy resulting from a previously defined mutation in the GLDC gene. The diagnostic result was obtained much sooner than other conventional investigations. Up to our knowledge, this would be the first case with glycine encephalopathy in the literature who was approached by this novel panel method initially. Although currently, classical evaluation methods such as physical examination, biochemical and conventional molecular investigations are still accepted as the gold standards to clarify the etiology of the metabolic encephalopathy it is obvious that next generation sequence analysis will play a very significant role in the future.
ÖZET
Anahtar sözcükler: Clostridium difficile, ishal, toksin
SUMMARY The Investigation of Frequency of Clostridium difficile Toxin A/B in Stool Samples of Patients with Diarrhea
Clostridium difficile is one of the most important causes of diarrhea associated with antibiotics. Toxigenic strains of C.difficile lead to various clinical symptoms, ranging from asymptomatic colonization to pseudomembranous colitis. The most widely used test for diagnosing C.difficile associated colitis is a test that detects toxins produced by C.difficile in stool samples.In our study, stool samples of 592 patients with diarrhea were studied for prevalence of C.
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