Transvaginal sonography with concomitant TV-UCD is low-cost, easily performed, and repeated technique for particularly deep myometrial invasion. Because of its high costs and time-consuming, MRI may be recommended in the cases with poor quality of TVS. Because depending solely on imaging methods could lead to insufficient treatment schedules, intraoperative frozen section should also be performed for myometrial assessment.
Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males) of 313 CKD patients (0.95%) were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%), tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%), heat intolerance (71%), and abdominal pain (57%). The most frequent manifestations in female patients were fatigue and cornea verticillata (50%), and tinnitus, vertigo and angiokeratoma (25%). Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fabry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin.
An endometrial thickness >8 mm is more likely than that of 8 mm or less to be indicated with endometrial biopsy in premenopausal uterine bleeding. Pipelle endometrial biopsy is an accurate diagnostic procedure for the detection of high-grade endometrial lesions in premenopausal women.
This study was undertaken to compare the diagnostic performance of transvaginal sonography (TVS), magnetic resonance imaging (MRI), and frozen section for detection of cervical involvement in endometrial cancer. The study included 64 consecutive patients with endometrial cancer. The subjects were evaluated with TVS and MRI by two radiologists and the frozen sections by a pathologist. The diagnostic accuracies of TVS, MRI and frozen section were compared using the McNemar test. The accuracy rates of TVS, MRI and frozen section were 90.6%, 92.2% and 95.5%, respectively. There were no statistical significant differences in overall diagnostic performance for the preoperative and intraoperative assessment of cervical involvement, although frozen section seemed to be slightly superior to the imaging techniques. TVS and MRI have similar performance in determination of cervical involvement. However, although time consuming and expensive, MRI may be recommended in cases with poor quality TVS. Frozen section may be advocated where preop-tests are equivocal.
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