Clin Lab
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Case Reports
A syndrome of insulin resistance resembling Donohue syndrome with patent ductus arteriosus.
Donohue syndrome, a rare autosomal recessive disorder, is associated with the mutation of the insulin receptor gene in the short arm of the 19th chromosome. It is very rare that a syndrome of insulin resistance resembles Donohue syndrome with patent ductus arteriosus. A 14-year-old girl, whose parents were consanguineous, was often admitted for abdominal pain over the past 8 years. ⋯ Most of patients with Donohue syndrome die prematurely. The child surviving for a long time may have a milder form of Donohue syndrome and may be due to a less severe form of the defective gene. Chromosomal abnormalities may be also associated with this disease.
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International guidelines stipulate that primarily cardiac troponin (cTn) assays with a coefficient of variation (CV) < or = 10% at the 99th percentile cutoff should be used for diagnosing myocardial infarction. Point-of-care (POC) assays usually do not meet these criteria. Here, we sought to confirm the manufacturer-recommended 99th percentile cutoff and CV of the POC assay AQT90 FLEX cTnI. ⋯ We confirmed the manufacturer recommended 99th percentile cutoff of 23 ng/L and established a CV of 6.7% at 20 ng/L. These results demonstrated that the POC assay AQT90 FLEX cTnI must be classified as "guideline acceptable".
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The type and frequency of E-cadherin (CDH1) germline variants in China for the early-onset diffuse gastric cancer (EODGC) has not been well established. Our study tend to screen and characterize germline variants for CDH1 gene in EODGC patients and in general population in China. ⋯ No deletions or insertions were found in the CDH1 exon boundaries. All of the variants resulted com- mon polymorphisms. CDH1 germline variants are present in EODGC patients in Chinese population, but they are mainly missense variants with unknown function which are likely associated with lymph node metastasis and OS.
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Randomized Controlled Trial
Serum procalcitonin in cirrhotic patients with septic shock: relationship with adrenal insufficiency and clinical outcomes.
Serum procalcitonin is commonly used to differentiate systemic inflammation due to infection from non-infectious causes. Limited data exist on the value of procalcitonin in predicting relative adrenal insufficiency (RAI). This study evaluated the value of procalcitonin in predicting RAI and mortality in cirrhotic patients with septic shock. ⋯ High serum procalcitonin was highly associated with RAI in cirrhotic patients with septic shock. Procalcitonin was not associated with 28 - day mortality in this patient population.
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Clinical Trial
Clinical utility of a quantitative Rose Bengal slide agglutination test in the diagnosis of human brucellosis in an endemic region.
Brucellosis currently ranks as the most important zoonotic disease in the world. Brucellosis is difficult to diagnose because patients often have nonspecific clinical symptoms that can be attributed to a number of disease agents prevalent in the area. Thus, this has necessitated the dependency of clinicians on microbiological confirmation, very often by sero diagnostic methods. Early and accurate detection of brucellosis is important if specific antibiotic treatment is to be effective for the patients. The use of RBST as a qualitative means of diagnosis is quiet common. However, to date, there are only a handful of reports of the application of RBST as a quantitative diagnostic method in medical literature. The potential usefulness of quantitative Rose Bengal slide agglutination test (RBST) for suspected brucellosis was evaluated as a simple, inexpensive diagnostic tool to be used in clinical practice in an endemic region. ⋯ This technique has an immense value particularly for use in resource poor settings seen in rural areas. It can deliver definitive diagnosis in < 10 minutes to the clinician, which may in turn result in the early initiation of specific treatment and could be applied thus as a bedside methodology. It is not technically demanding and easy to interpret, does not involve heavy capital outlay, or trained personnel and, thus, is potentially useful in resource poor laboratories, particularly in developing regions. In addition, quantitative RBST demonstrates sensitivity and specificity equivalent to that achievable by performing SAT. It can readily be extended to screen a vast number of blood samples particularly in areas where brucellosis is hyperendemic. Quantitative RBST and 2ME have been noted to be of great value in therapeutic monitoring. Our data suggest that RBST titers in a range of 1:8 and 1:16 can undoubtedly be considered diagnostic of brucellosis in conjunction with compatible clinical and epidemiological evidence for the patients residing in areas endemic for the disease. Quantitative RBST is, therefore, recommended for routine use in clinical microbiology laboratories as an accurate and speedy diagnostic assay.