Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

Autoimmune polyendocrinopathy syndrome type 1 (APS1) is characterized by the presence of at least two out of three clinical features, which include Addison's disease, hypoparathyroidism, and chronic mucocutaneous candidiasis. This disorder is caused by mutations in the AIRE (autoimmune regulator) gene. While several AIRE mutations have been described in APS1 patients of various ethnic origins, the genetic cause of APS1 in Arab patients requires further investigation. This study describes seven Arab families, in which 18 patients had APS1. In addition to the cardinal features of APS1, some patients exhibited alopecia, diabetes mellitus, nephrocalcinosis and other phenotypes associated with APS1. DNA sequencing of the AIRE gene of patients from this study identified four novel and one recurrent mutation. These mutations likely result in loss of AIRE function in the patients. In addition, it was noted that the non-pathogenic c.834C> G mutation (rs1800520, encoding for p.Ser278Arg) occurs with high incidence in the AIRE gene of Arab individuals. Furthermore, this investigation demonstrates inflammation of the hair follicles in APS1 patients with alopecia universalis. We conclude that Arab APS1 patients carry novel and recurrent mutations in the AIRE gene.

Expedient liquid chromatographic method with fluorescence detection for montelukast sodium in micro-samples of plasma.

This study describes an expedient assay for the analysis of the asthma medication, montelukast sodium (Singulair, MK-0476), in human plasma samples. After a simple extraction of the plasma, the drug and internal standard, quinine bisulfate, were measured by HPLC. The chromatographic system consisted of a single pump, a refrigerated autosampler, a C8 4-microm particle size radial compression cartridge at 40 degrees C and a fluorescence detector with the excitation and emission wavelengths set at 350 and 400 nm, respectively. The mobile phase which was delivered at 1.0 ml/min, was prepared by adding 200 ml of 0.025 M sodium acetate, pH adjusted to 4.0 with acetic acid, to 800 ml of acetonitrile, with 50 microl triethylamine. With a run time of only 10 min per sample, this assay had an overall recovery of >97% with a detection limit of 1 ng/ml. The inter- and intra-run relative standard deviations at 0.05, 0.2 and 1.0 microg/ml were all <9.2%, while the analytical recovery at the same concentrations were within 7.7% of the amount added.

Brucella peritonitis.

We report the case of a patient with peritonitis caused by Brucella melitensis who also had chronic liver disease. At first the patient was treated for bacterial peritonitis but when a lymphocytic ascites was aspirated antituberculosis chemotherapy was given. However, the serological tests for brucellosis were strongly positive and subsequently B. melitensis was isolated from ascitic fluid.