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Background: NLRP7 (NALP7) has recently been identified as the causative gene for familial recurrent hydatidiform mole (FRHM), a rare autosomal recessive condition in which affected women have recurrent molar pregnancies of diploid biparental origin. To date only a small number of affected families have been described. Our objectives were to investigate the diversity of mutations and their localisation to one or both isoforms of NLRP7, by screening a large series of women with FRHM and to examine the normal expression of NLRP7 in ovarian tissue. Methods: Fluorescent microsatellite genotyping of molar tissue was used to establish a diagnosis of FRHM. Twenty families were subsequently screened for mutations in NLRP7 using DNA sequencing. Expression of NLRP7 in the ovary was examined by immunohistochemical staining. Results: 16 different mutations were identified in the study, 13 of which were novel. Missense mutations were found to be present in transcript variant 2 of NLRP7 and cluster in the leucine-rich region (LRR). A man with two affected sisters and homozygous for the p.R693P mutation had normal reproductive outcomes. In the normal human ovary, NLRP7 expression is confined to the oocytes and present at all stages from primordial to tertiary follicles. Conclusion: 13 novel mutations in NLRP7 were identified. We confirm that mutations in NLRP7 affect female but not male reproduction, and provide evidence that transcript variant 2 of NLRP7 is the important isoform in this condition. The mutation clustering seen confirms that the LRR is critical for normal functioning of NLRP7.

Acute abdomen with hemoperitoneum is a very rare entity in postmenopausal women due to gynecologic conditions. A 54-year-old, postmenopausal woman was brought to emergency department with severe abdominal pain. Physical examination revealed acute abdomen findings with 15 cm pelvic mass on the right adnexal region. Immediate exploratory laparotomy was performed. During laparotomy 1000 cc of bloodstained fluid, ruptured and actively bleeding large mass arising from right ovary was observed. Right salpingo-oopherectomy was performed in emergency conditions, and pathology report revealed an adult type of granulosa cell tumor. After this result, staging surgery was performed and patient was diagnosed as granulosa cell tumor stage 1 c. Cisplatin, etoposide, and bleomycin chemotherapy was given. Clinicians should be aware of granulosa cell tumors which may occur at any age and prone to rupture. Frozen section will be helpful in order to avoid incomplete surgeries especially in postmenopausal women presented with intra-abdominal bleeding.

Objective: To evaluate retrospectively the prevalence of cervical cytological abnormalities in patient records obtained from healthcare centers in Turkey. Method: Demographic characteristics and data on cervical cytological abnormalities were evaluated from patients who underwent flap tests in healthcare centers in 2007. Results: Data were collected from 33 healthcare centers totaling 140 334 patients. Overall, the prevalence of cervical cytological abnormalities was 1.8%; the prevalence of ASCUS, ASC-H, LSIL, HSIL, and AGC was 1.07%, 0.07%, 0.3%, 0.17%, and 0.08%, respectively. The prevalence of preinvasive cervical neoplasia was 1.7% and the prevalence of cytologically diagnosed invasive neoplasia was 0.06%. Conclusion: The abnormal cervical cytological prevalence rate in Turkey is lower than in Europe and North America. This might be due to sociocultural differences, lack of population-based screening programs, or a lower HPV prevalence rate in Turkey. (C) 2009 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

PubMedID: 15643295 Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Since a large proportion of all the FMF patients in the world live in Turkey, the Turkish FMF Study Group (FMF-TR) was founded to develop a patient registry database and analyze demographic, clinical, and genetic features. The cohort was composed of 2838 patients (mean age, 23.0 ± 13.33 yr; range, 2-87 yr), with a male:female ratio of 1.2:1. There was a mean period of 6.9 ± 7.65 years from disease onset to diagnosis; the period was about 2 years shorter for each decade since 1981. Ninety-four percent of patients were living in the central-western parts of the country; however, their familial origins (70% from the central-eastern and Black Sea regions) reflected not only the ongoing east to west migration, but also the historical roots of FMF in Turkey. Patients' clinical features included peritonitis (93.7%), fever (92.5%), arthritis (47.4%), pleuritis (31.2%), myalgia (39.6%), and erysipelas-like erythema (20.9%). Arthritis, arthralgia, myalgia, and erysipelas-like erythema were significantly more frequent (p < 0.001) among patients with disease onset before the age of 18 years. Genetic analysis of 1090 patients revealed that M694V was the most frequent mutation (51.4%), followed by M680I (14.4%) and V726A (8.6%). Patients with the M694V/M694V genotype were found to have an earlier age of onset and higher frequencies of arthritis and arthralgia compared with the other groups (both p < 0.001). In contrast to other reported studies, there was no correlation between amyloidosis and M694V homozygosity in this cohort. However, amyloidosis was still remarkably frequent in our patients (12.9%), and it was prevalent (27.8%) even among the 18 patients with a disease onset after age 40 years. Twenty-two patients (0.8%) had nonamyloid glomerular diseases. The high prevalence of vasculitides (0.9% for polyarteritis nodosa and 2.7% for Henoch-Schönlein purpura) and high frequency of pericarditis (1.4%) were striking findings in the cohort. Phenotype II cases (those patients with amyloidosis as the presenting or only manifestation of disease) were rare (0.3% or less). There was a high rate of a past diagnosis of acute rheumatic fever, which suggested a possible misdiagnosis in children with FMF presenting with recurrent arthritis. To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.

With the aim to describe preoperative computed tomography (CT) findings, the clinical, histopathological, and CT findings of the 12 consecutive patients with a confirmed diagnosis of primary peritoneal serous papillary carcinoma (PPSPC) were retrospectively evaluated. Of the 12 patients with a mean age of 57.5 +/- 10.3 years, ten (83.3%) were postmenopausal. Serum Ca-125 levels were elevated in all patients. Ten (83.3%) had Stage III and two (16.7%) patients had Stage IV disease and none of the excised ovaries had deep parenchymal involvement. The most common CT findings were the omental (n = 11), mesenterial (n = 11) and parietal peritoneal involvements (n = 10), and variable amount of ascites (n = 10). Pelvic peritoneal involvement in four (33.3%) patients was so extensive that it resembled a mass in the Douglas pouch. Thickening of the wall of gastrointestinal viscera (n = 9), lymphadenopathy (n = 5) and pleural effusion (n = 5) were the other CT findings and calcification was seen in only three (25.0%) patients. Although, none of them was characteristic, CT features of diffuse peritoneal, omental and mesenterial involvement especially in middle-aged or elderly postmenopausal women with normal-size ovaries in the absence of an identifiable primary site in conjunction with elevated level of serum CA-125 should suggest the possibility of PPSPC.

To assess microvessel density (MVD) as a marker for angiogenesis in endometrial carcinoma (EC) and normal endometrium at the proliferative and secretory phase, and to determine its prognostic value on survival among cases with EC.Forty-three endometrial carcinoma cases were surgically staged and recruited for this case-control study. Tissue specimens from hysterectomies due to benign conditions (uterine descensus, myoma uteri, chronic pelvic pain, adenomyosis), that belonged to proliferative (n = 10) and secretory (n = 10) endometrium (n = 10), were studied as the control group (n = 20). MVD was assessed in hot areas where a high density of microvessels were detected within tumoral tissue and normal endometrium at proliferative and secretory phases. Among EC, various prognosticators such as tumor stage, histological and nuclear grade, tumor size, lympho-vascular space involvement (LVSI), cervical involvement, myometrial invasion, adnexal and lymph node involvement, peritoneal cytology and MVD were analysed in regard to survival.The mean age of cases with EC was 58.3 +/- 1.4. MVD was apparently high in EC cases (p0.05). Among control cases, endometrium from proliferative and secretory phases of the menstrual cycle was not statistically different (48.5 +/- 3.6 vs 47.4 +/- 3.8, respectively). MVD was correlated with high surgical stage (p0.001), cervical involvement (p = 0.01), adnexal involvement (p = 0.04), lympho-vascular space involvement (p = 0.02), pelvic and para-aortic lymph node metastasis (p0.001) and positive peritoneal cytology (p0.001). On univariate analysis, with a MVD cut-off value of 81/0.739 mm2, surgical stage (p0.001), LVSI (p0.001), retroperitoneal lymph node involvement (p0.001), adnexal metastasis (p0.001), peritoneal cytology (p = 0.005) and MVD count (p0.001) appeared to be independent factors for survival. On multivariate analysis, only pelvic lymph node involvement (p = 0.03) and MVD (p = 0.02) were found to be independent prognosticators on survival.Angiogenesis is apparent in both initial and further evolution of a tumoral process. MVD appears to have a substantial prognostic value on survival in EC cases.