Chromosomal abnormality in patients with secondary amenorrhea

Secondary amenorrhea is a condition in which there is cessation of menses after at least one menstruation. It is a symptom of different diseases, such as hormonal disturbances which range from pituitary to ovarian origin, as well as chromosomal abnormalities. Knowledge of the distinct cause of secondary amenorrhea is of tremendous benefit for the management and monitoring of patients. In this study, we determine the chromosomal abnormalities in patients with secondary amenorrhea in Southwest Iran. We selected 94 patients with secondary amenorrhea who referred to our Cytogenetic Ward from 2004 until 2009. For karyotyping, peripheral blood lymphocyte cultures were set up by conventional technique. In this study, 5.3% [n=5] of patients with secondary amenorrhea presented with chromosomal abnormalities, of which all contained an X element. The chromosomal abnormalities were:i]45, X [n=1]; ii]47, XXX [n=1]; iii] 45, X [13]/45, Xi[X]q[17] [n=1]; iv]45, X[12]/46,X,+mar[12] [n=1]; and v] 46,X,del[Xq][q23q28] [n=1]. Our study revealed that some causes of secondary amenorrhea could be due to chromosomal abnormalities. Therefore, cytogenetic studies should be important tests in the evaluation of patients with secondary amenorrhea

[Diagnostic accuracy of helicobacter stool antigen in dyspeptic patients before eradication therapy]

The aim of this study was to assess and compare the diagnostic accuracy of Helicobacter pylori stool antigen [HpSA] test with three other invasive and non-invasive diagnostic methods. A total of Fifty-two dyspeptic patients were included. None of the patients had previous eradication therapy for Helicobacter pylori. Endoscopic biopsy samples were obtained for histology examination and Rapid Urease Test [RUT]. Urea Breath Test [UBT] and HpSA were also performed. Patients were considered Helicobacter pylori positive when 2 of 3 tests [histology examination, RUT and UBT] were positive [gold standard]. Diagnostic accuracy of HpSA was assessed performing a Receiver Operating Curve [ROC] analysis. Twenty-three Were men and 29 Were women, with a mean age of 42.3 years of the Patients. The prevalence of Helicobacter pylori infection was 67.3%. ROC curve analysis was showed a significant area under curve of 94.6% [p=0.0001]. Cut-off value was estimated to be 0.1. The sensitivity, specificity, positive and negative predictive values of HpSA wa 91.4%, 94.1%, 97% and 84%, respectively. HpSA level significantly increased with increasing in bacterial load. HpSA was proved to be a highly accurate, simple and non-invasive test for the diagnosis of Helicobater pylori infection before treatment in dyspeptic patients

Primary glomus tumor of the liver

Primary glomus tumors are extremely rare in the liver. To this date, only two cases of primary glomus tumors of the liver have been reported in the literature. This report is the third case of this specified tumor. The patient was a 50 year-old Iranian woman who presented with a history of epigastric pain and nausea. Abdominal computed tomography [CT] scan showed a huge hepatic mass that replaced the entire left lobe. Surgical biopsy showed that the specimen consisted of a vascular network confined by the proliferation of epithelioid cells with round-to-oval nuclei and eosinophilic cytoplasms. The cells expressed diffuse reactivity for vimentin, smooth muscle actin and CD34, whereas no reactivity was observed with carcinoembryonic antigen, synaptophysin, chromogranin, cytokeratin, and human melanoma black 45. We conclude that glomus tumors must be considered in the differential diagnosis of hepatic masses, with immunohistochemical staining for smooth muscle actin being a useful method to prove the diagnosis

Familial lecithin-cholesterol acyltransferase deficiency

Familial lecithin-cholesterol acyltransferase deficiency is an uncommon autosomal recessive disorder from a heritable defect in esterification of plasma cholesterol. In 1968, the disease was described by Gjone and Norum in Norway. Our case was a 38-year-old woman. Her disease was manifested by presence of lower extremities edema, proteinuria, corneal opacities, increased plasma cholesterol, and hemolytic anemia. Suspicion of the disease was based on renal biopsy, which revealed mesangial expansion and capillary wall widening with clusters of foamy cells in the mesangium. Immunofluorescence study was nonspecific, but specific findings of electron microscopy showed deposition of lipid in the glomerular basement membrane and mesangium. This is the first report of lecithin-cholesterol acyltransferase deficiency in Iran. The diagnosis was confirmed by a low high-density lipoprotein cholesterol concentration, decreased activity of lecithin-cholesterol acyltransferase in plasma, and positive familial history of the disease