Analysis of thrombophilic genetic mutations in patients with Sheehan's syndrome: is thrombophilia responsible for the pathogenesis of Sheehan's syndrome?

The gene mutations of Factor V R506Q (FV-Leiden), prothrombin (FII G20210A), methylene tetrahydrofolate reductase (MTHFR) C677T and A1298C and PAI-1 4G/5G are well-established risk factors for thrombosis. We aimed to investigate the prevalence of these gene mutations and their possible impact on the development of pathogenesis in patients with Sheehan's syndrome (SS). 40 female patients with SS compared to a control group of 45 healthy women. The presence of FV-Leiden, FII G20210A, MTHFR C677T, MTHFR A1298C and PAI-1 4G/5G gene mutations were assessed by polymerase chain reaction analysis with a light cycler analyzer. An odds ratio of greater than one is considered to increase the risk of SS disease as found in Factor V Leiden, FII G20210A, MTHFR C677T, MTHFR A1298C and PAI-1 4G/5G polymorphism, as follows respectively: 1.13, 1.85, 6.00, 8.14 and 1.45. MTHFR C677T and MTHFR A1298C polymorphism were found significantly higher in SS patients than the control group (P<0.001), however FV-Leiden, FII G20210A and PAI-1 4G/5G polymorphism showed no significant difference (P>0.05). The level of plasma total homocysteine (tHcy) was significantly higher in patients with SS than in the control group (P<0.001). We suggest that the genetic mutations of FV-Leiden, FII G20210A, MTHFR C677T, MTHFR A1298C and PAI-1 4G/5G increase the risk of SS. Also, high plasma tHcy levels may be a risk factor for the development of SS.

Factor V Leiden and G20210A prothrombin mutations in patients with recurrent pregnancy loss: data from the southeast of Turkey.

Factor V Leiden (FV-Leiden) and prothrombin gene mutations (FII G20210A) are well-established independent risk factors for thrombosis. In the recent years, many studies have suggested that these mutations are associated with an increased risk of recurrent pregnancy loss (RPL). We aimed to investigate the prevalence of these molecular defects in subjects with a history of early RPL. One hundred and fourteen women with three or more consecutive unexplained first-trimester miscarriages were compared to 185 parous women with uncomplicated pregnancies from the same ethnic origin. The presence of FV-Leiden and FII G20210A mutations was assessed by polymerase chain reaction analysis. Overall, 11 out of the 114 women with early RPL (9.6%) had either FV-Leiden or FII G20210A mutation, as compared with 16 out of the 185 women with normal pregnancies (8.6%; p = 0.756). The prevalence of FV-Leiden mutation was 7.9% (9/114) in patient group, compared with 7% (13/185) in control group (p = 0.780). One hundred and two patients were primary and 12 were secondary aborters. All FV-Leiden positive cases were primary aborters (8.8%; 9/102, p = 0.584). Concerning the FII G20210A, two out of 114 (1.7%) were first-trimester RPL (primary aborters) and three out of 185 (1.6%) controls were carriers of the FII G20210A mutation (1.7 vs 1.6%, p = 0.931). The results obtained from patients with first-trimester RPL and the control group have no statistical significant differences in the prevalence of FV-Leiden and FII G20210A mutations. These results suggest that mutations have no role in etiology of first-trimester recurrent abortions.

Diagnosis of bladder outlet obstruction in men with lower urinary tract symptoms: comparison of near infrared spectroscopy algorithm and pressure flow study in a prospective study.

OBJECTIVE: To investigate the efficacy of near infrared spectroscopy (NIRS) and an algorithm on the diagnosis of bladder outlet obstruction in men with lower urinary tract symptoms (LUTS). METHODS: Male patients with LUTS were recruited and underwent uroflowmetry and urodynamic pressure flow study (PFS) with simultaneous transcutaneous NIRS monitoring. Next, the postvoid residual urine volume was measured using ultrasonography. Data analysis first classified each subject as obstructed or unobstructed using the standard pressure flow data and nomogram and compared these results with the NIRS algorithm, which analyzed the pattern of change of the NIRS data plus the measurements of the postvoid residual urine volume and peak flow rate on uroflowmetry. RESULTS: A total of 65 patients were enrolled in the present study. Of these patients, 10 with equivocal PFS findings and 2 with concurrent urinary tract infection were excluded. Of the 53 patients, 29 and 24 were classified as obstructed and unobstructed according to the PFS outcomes, respectively. The International Prostate Symptom Score and uroflowmetry peak flow rate demonstrated significant differences between the obstructed and unobstructed patients. The NIRS algorithm correctly identified 25 patients diagnosed as obstructed (86.2%) and 21 diagnosed as unobstructed (87.5%) according to the PFS findings. CONCLUSION: The NIRS algorithm could be a noninvasive option for the diagnosis of bladder outlet obstruction in men with LUTS, with 86.2% and 87.5% sensitivity and specificity, respectively.