Genital TB may present as on abdominopelvic mass mimicking ovarian malignancy because clinical and laboratory findings are similar. Family history is very important and should be considered for differential diagnosis. Three cases of genital TB with presentation of abdominopelvic masses and with no signs and symptoms of TB were presented. Two of them had positive family history of pulmonary TB. Tissue diagnosis was the best method for diagnosis of genital TB, but it should be reminded that if positive family history of TB was present, mini laparotomy should be done to take biopsy and to make rapid diagnosis before treatment.
Background
Uterine leiomyomas (ULMs) are benign uterine tumors that are estrogen-dependent. Recent studies suggest that the abnormal expression of the steroid receptor RNA activator 1 (SRA1) long non-coding RNA (lncRNA) might participate in the mechanisms of tumorigenesis of some hormone-dependent tumors including breast cancer. SRA1 is known to enhance the transcriptional activity of steroid receptors and also promotes steroidogenesis. The level of steroid hormones, such as estrogen and the progesterone, and their receptors play an important role in the development and growth of leiomyoma. The aim of the present study was to determine the expression level of lncRNA SRA1 in ULM tissues considering the
MED12
mutation pattern.
Methods
Mutation screening was performed for
MED12
exons 1 and 2 and the intronic flanking regions using Sanger sequencing in 60 ULM tissues. Quantitative real-time polymerase chain reaction (qRT-PCRs) was performed in order to estimate the expression of lncRNA SRA1 in leiomyoma samples with and without
MED12
gene mutations. The expression results were analyzed by using LinReg and REST software.
Results
Mutations were detected in exon 2 of the
MED12
in 28 (46.67%) ULM samples; including, 21 (75%) missense mutations and 7 (25%) in-frame deletions. No mutation was detected in the
MED12
exon 1. LncRNA SRA1 was over-expressed in ULM samples without
MED12
mutation compared with ULM samples harboring
MED12
mutation (Expression ratio=2.5,
P
-value=0.004).
Conclusion
Present results suggest that lncRNA SRA1 may explain the phenotypic difference observed in the tumor size of ULM samples considering
MED12
mutation pattern. Therefore, it serves as a good therapeutic target and provides new insight into understanding the disease molecular mechanism.
Abstract- The birth of a neonate with chromosomal abnormalities, e.g. Down syndrome has very serious problems for family, society, and for the neonate itself, and therefore prenatal evaluation is imperative in determining the fate of the fetus. This research aimed to assess the association and accuracy of amniocentesis with first-trimester combined screening. In this study, specimens from 1066 cases were analyzed for free Beta human chorionic gonadotropin, pregnancy-associated plasma protein A, along with nuchal translucency and nasal bone ultrasonography from October 2013 till November 2014. Upon observing positive screening, mothers underwent amniocentesis. Finally the amniocentesis results were compared with that of first-trimester screening. Our results determined a direct relation between the high age of the mother and gravidity with P of 0.001 and 0.020 with positive first-trimester screening. Our study attained a 92% accuracy rate of amniocentesis due to one case of mosaicism of trisomy 21, that was not diagnosed, because it was not requested by physician. Only 12 (17.1%) cases out of 70 (mothers with positive first-trimester screening) showed positive amniocentesis, which had a significant relationship with chromosomal abnormality. First trimester combined screening has very high accuracy (94.6%) in prediction of genetic abnormalities. The probability of positive first-trimester screening is directly influenced by number of factors, including the mother age and gravidity. Amniocentesis is necessary for all of mothers with positive first-trimester screening and will almost always detect chromosomal abnormalities.
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