Umbilical intra-abdominal vein varix: a case report and review of the literature.

Fetal umbilical intra-abdominal vein varix (FIUV) is a rare congenital malformation characterized by focal dilatation of the umbilical vein. The authors report a case of pregnant woman at 32 weeks of gestation with a fetus affected by dilatation of an intra-abdominal portion of the umbilical vein. They performed continuous ultrasound and cardiotocographic monitoring, from admission to the delivery. They describe the case and perform a review of the literature.

Holt Oram syndrome: a case report and review of the literature.

Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. The syndrome is caused by mutations in two genes of the T-box (TBX5, 601 620 and TBX 3) located on the 12q24.1p. The authors report a case and review the literature.

Right angular pregnancy at seven weeks' gestation: a case report treated by laparoscopic approach.

Angular pregnancy (AP) or implantation of the embryo in the lateral angle of the uterine cavity close to the internal ostium of the fallopian tube is a very rare event. In fact, angular pregnancy refers to implantation of the embryo just medial to the uterotubal junction, in the lateral angle of the uterine cavity. AP must be distinguished, anatomically, from interstitial pregnancy by its position in relation to the round ligament, which crosses the Müllerian duct at the side of the uterotubal junction. AP is associated with a high rate of complications such as bleeding and ruptured uterus due to delayed diagnosis. The authors present a clinical report of AP at seven weeks' gestation without uterine rupture. They performed directly operative laparoscopy because of acute intra-abdominal hemorrhage. Laparoscopy was useful in the treatment of early angular pregnancy and could avoid the need for invasive surgery or hysterectomy.

Hysterosalpingography in infertility investigation protocol: is it still useful?

PURPOSE OF INVESTIGATION: to assess the radiological findings of women undergoing hysterosalpingography (HSG) as initial infertility investigation protocol. MATERIALS AND METHODS: A retrospective study on infertile women who underwent HSG at Institute of Radiology of Sassari University, Italy. RESULTS: The present case series included 2,845 HSG, performed from January 1997 to March 2014. The age of the patients ranged from 20 to 48 years. The negative exams (tubal patency) were 2,039 out of 2,845 (71.67%). CONCLUSION: A technique of diagnostic imaging for the evaluation of infertility should be non-invasive, not expensive, rapid, of simple execution, and also be able to provide information on tubal patency and pelvic diseases. For these reasons, HSG today remains a useful diagnostic investigation tool in the diagnostic work-up of infertile patients.

Environment and Endometriosis: a toxic relationship.

Endometriosis is a common, benign, estrogen-dependent gynecological disease that represents one of the main causes of hospitalization in industrialized countries. It is well established that a large amount of natural and man-made chemicals are present in the environment and both humans and animals are exposed to them. Dioxin and dioxin-like compounds have long biological half-life, can accumulate within the organism and could negatively affect several physiological processes. The purpose of this review is to provide an overview of the possible relationship between these chemicals and the pathogenesis of endometriosis.

Epidemiology of ovarian cancer in North Sardinia, Italy, during the period 1992-2010.

INTRODUCTION: The aim of this study was to analyze and describe the incidence and mortality trends of ovarian cancer in North Sardinia, Italy, in the period 1992-2010. MATERIALS AND METHODS: Data were obtained from the tumor registry of Sassari province which makes part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. RESULTS: The overall number of ovarian cancer cases registered in the period under investigation was 600. The mean age of the patients was 62 years. The standardized incidence and mortality rates were 11.2/100,000 and 5.1/100,000 respectively. A substantially stable trend in incidence and mortality of ovarian cancer was evidenced. Relative survival at five years from diagnosis was 44.2%. CONCLUSIONS: The incidence and mortality trends of ovarian cancer in North Sardinia remained relatively stable in the last decades, while prognosis remains relatively poor.

Report on incidence and mortality trends of cervical cancer in northern Sardinia, Italy.

INTRODUCTION: The aim of this study was to analyze and describe the incidence and mortality trends of cervical cancer in northern Sardinia, Italy, in the period 1992-2010. MATERIALS AND METHODS: Data were obtained from the tumor registry of Sassari province which is part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. RESULTS: The overall number of cervical cancer cases registered in the period under investigation was 311. The mean age of the patients was 51.8 years. The standardized incidence and mortality rates were 6.6 / 100.000 and 0.7 / 100.000, respectively. A stable trend in incidence and mortality of cervical cancer was evidenced. Relative survival at five years from diagnosis was fairly good (66.3%). CONCLUSIONS: The incidence and mortality trends of cervical cancer in northern Sardinia remained relatively stable in the last decades. Furthermore, survival of patients with cervical cancer is good in the area, sanctioning the adequacy of the preventive and clinical measures in use.

TVT-ABBREVO: efficacy and two years follow-up for the treatment of stress urinary incontinence.

PURPOSE: To assess the effectiveness of inside-out TVT-ABBREVO in the surgical treatment of female stress urinary incontinence (SUI) with mean two-year follow-up. MATERIALS AND METHODS: Fifty-six women underwent surgery for moderate-severe SUI. The technology used was the TVT-ABBREVO inside-out. Each woman at 12 and 24 months underwent postoperative evaluation by means of urodynamics, Q-tip test, CST, transperineal ultrasonography, and administration of "King's Health Questionnaire" (KHQ). RESULTS: The mean age of the women was 57.03 +/- 11.1 years (range 42-75). Postoperative urodynamics (12 months follow-up) resulted to be normal in 43/56 patients (76.79%), in 10/56 (17.86%) cases resulted in a considerable improvement of the symptomatology, and only 1/56 (1.78%) case had de novo overactive bladder (OAB), in 2/56 (3.57%) symptomatology unchanged. After administration of the KHQ 43/56 cases (76.79%) had resolution of the symptomatology, 10/56 cases (17.86%) improvement of the symptomatology, and no change in 3/56 cases (5.36%). CONCLUSION: In the authors' experience, the TVT-ABBREVO resulted technically simple. The TVT-ABBREVO procedure provides high objective and subjective long-term efficacy, a clinically meaningful improvement in patient quality of life, and an excellent safety profile.

Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis.

The authors report a preterm neonate with dysmorphic traits and cleft palate who was born preterm because of precipitous delivery and died soon after birth notwithstanding neonatal intensive care unit (NICU) support. The cytogenetic analysis on fibroblasts from post-mortem skin biopsy demonstrated a Pallister-Killian syndrome (PKS). PKS is a cytogenetically syndrome characterized by a tissue limited mosaic distribution of one isochromosome 12p (tetrasomy 12p). Clinical manifestations of PKS are variable, and some symptoms may overlap with other malformative syndromes, thus the correct diagnosis mainly depends on the demonstration of the specific cytogenetic abnormality.

Uterine perivascular epithelioid cell neoplasms (PEComas): report of two cases and literature review.

Perivascular epithelioid cell tumors (PEComas) are rare tumors characterized by co-expression of melanocytic and smooth muscle markers. PEComas have been reported in a wide variety of anatomic sites. In the female genital tract, PEComas most frequently affect the uterus. PEComas which occur in non-classic anatomic distributions are known as perivascular epithelioid cell tumor-not otherwise specified (PEComa-NOS). PEComas have an unpredictable biologic behavior, with some tumors being unresectable or metastatic at the time of diagnosis. The risk of aggressive behavior of these tumors has been linked to a number of factors evaluable on histopathological review following initial surgical resection. The authors report two cases of PEComa-NOS of the uterus: one with disease confined to uterus and the other case with lung and liver metastasis.

HPV infection in HIV-positive females: the need for cervical cancer screening including HPV-DNA detection despite successful HAART.

PURPOSE: To identify the presence of Human Papilloma Virus (HPV) infection and evaluate the role of Highly Active Antiretroviral Treatment (HAART) in patients with HIV-HPV co-infection. We also compared cytological screening results with HPV-DNA detection to implement screening programs and prevention of invasive cervical cancer (ICC) in HIV-infected females. PATIENTS AND METHODS: We enrolled HIV-infected females presenting for routine clinical evaluation. HPV-DNA of high/intermediate and low-risk types was detected from cervical specimens by nucleic acid hybridization assay with signal-amplification. Patients were divided into two groups according to the presence of HPV co-infection (HPV+) or not (HPV-). RESULTS: We enrolled 57 HIV-infected females. Median age was 40 (IQR 35-44) years, mean CD4 count was 547 ± 227 cells/mm(3), 45 (78.9%) had undetectable HIV-RNA and 52 (91.2%) received HAART. Globally, 19/57 (33.3%) patients were HPV-infected, 16/57 (28.1%) with high/intermediate and 3/57 (5.3%) with low-risk types. Five of the 19 (26.3%) HPV+ patients carried both types. Correlating high-risk genotype HPV-DNA detection with cytology, 17.5% of women with negative cytology, 36.4% with ASCUS (Atypical Squamous Cells of Uncertain Significance) and 83.4% of women with positive cytology (50% of LSIL: low-grade squamous intraepithelial lesion and 100% of HSIL: high grade SIL) were HPV positive. No statistical difference when comparing HPV+ and HPV-patients in age, CD4 cell count, in the proportion of previous intravenous-drug use, previous AIDS and of those receiving HAART with undetectable HIV-RNA was observed. CONCLUSIONS: Cervical cancer screening including HPV-DNA detection should be implemented in HIV infected females across Europe, also when receiving successful HAART, to early identify the HIV patients at risk for ICC to be submitted to more frequent follow up and proper treatment.

Management of breast lobular carcinoma in situ: radio-pathological correlation, clinical implications, and follow-up.

PURPOSE OF INVESTIGATION: To show management of patients with breast lobular carcinoma in situ (LCIS). MATERIALS AND METHODS: This study is the retrospective review of 65 patients, between 1996 and 2012, with isolated LCIS of the breast, evaluated through clinical examination, ultrasound, and mammography at the first examination and follow-up. RESULTS: In 53 patients (81.54%), clinical examination was negative. In 14/65 (21.54%) cases, ultrasound was positive and led to biopsy. The clusters of tiny calcifications were the predominant mammographic pattern (45 cases, 69.23%). Forty-six patients (70.77%) underwent surgical biopsy after guided stereotactic placement of metallic marker (hook-wire), 12 (18.46%) by stereotactic vacuum biopsy (SVB), 5 (7.69%) by core needle biopsy (CNB) under ultrasound guidance, two (3.08%) patients CNB with clinically palpable nodules. Fourteen (21.54%) women underwent a quadrantectomy or total mastectomy after the first diagnosis; in this latter group follow-up was negative. Among the 51 patients (78.46%) who did not undergo quadrantectomy or total mastectomy, five relapses occurred, respectively, three LCIS and two infiltrating ductal carcinomas (IDC). Follow-up ranged from 12 to 144 months. CONCLUSION: LCIS is a risk factor for invasive carcinoma and should be managed with careful follow-up, but if there is a discrepancy between pathology and imaging, surgical excision is mandatory.

Immunoreactivity for Ca 125 and INI 1 loss of expression are useful markers in the diagnosis of vulvar proximal-type epithelioid sarcomas: report of two cases.

Epithelioid sarcomas (ES) are rare soft tissue tumours of obscure histogenesis. Diagnosis is often difficult as specific morphological and immunohistochemical patterns do not exist. Two distinct clinico-pathological entities have been identified: the classic or distal type and the proximal type. Recently, immunohistochemical detection of Ca 125 was described in ES, as well as loss of INI 1 expression. The authors describe in this paper the morphological and immunohistochemical features of two cases of proximal ES of the vulva. Immunoreactivity for Ca 125 and loss of INI 1 expression were present in both cases. These results confirm previous observations in Asian reports showing that these markers can be used as immunohistochemical markers for the diagnostic assessment of ES.

Immunohistochemical evaluation of a new epithelial antigen, BER-EP4 in ovarian cancer: a propos of 62 cases.

OBJECTIVE: To assess the immunohistochemical expression of BerEP4, a new epithelial antigen in ovarian cancer. METHODS: We studied 62 cases of ovarian cancer in which BerEP4, CEA and CA-125 were investigated by an immunohistochemical method. We evaluated the correlations among immunohistochemical positivity and the grading, histotype and stage of disease. RESULTS: BerEP4 was positive in 45 out of 62 cases (72.58%), CA-125 in 36 out of 62 cases (58.06%) and CEA in ten out of 62 cases (16.13%). BerEP4 was present both in serous and in mucinous tumors (80.96% vs. 80.77%). CA-125 was mainly expressed in serous vs mucinous tumors (66.67% vs. 57.69%). CEA was more prevalent in mucinous vs. serous tumors. Ber-EP4 was mainly expressed in G1 (75%) and G2 (77.27%). CA-125 was more present in G1 and G3 (both 62.50%) than G2 (50%), whereas CEA showed positivity in G1: 12.50%, G2: 22.73% and G3: 12.50%. There were no differences among the three antigens studied with regard to clinical stage. CONCLUSIONS: In our study Ber-EP4 was positive in 45 out of 62 cases (72.58%) of primary epithelial ovarian cancers. The presence of this antigen seemed to be related to the histotype and grading but not to clinical stage.

Comparison between transvaginal sonography, saline contrast sonovaginography and magnetic resonance imaging in the diagnosis of posterior deep infiltrating endometriosis.

OBJECTIVE: To compare clinical evaluation, transvaginal sonography (TVS), saline contrast sonovaginography (SCSV) and magnetic resonance imaging (MRI) in the diagnosis of posterior deep pelvic endometriosis (DPE). METHODS: Women suspected of having posterior DPE on the basis of subjective symptoms and clinical evaluation underwent digital vaginal and rectal examination, TVS, SCSV and MRI. Laparoscopy was performed and specimens were sent for histological examination. Sensitivity, specificity, positive and negative predictive value, as well as positive and negative likelihood ratios were analyzed for each diagnostic method. RESULTS: Fifty-four out of 102 women suspected of having posterior DPE underwent laparoscopic surgery. Among these, in 46 (85.2%) cases DPE was confirmed at laparoscopic and histological examination. SCSV correctly identified 43 (93.5%) cases, presenting higher accuracy than did the other procedures. SCSV and MRI were more accurate in diagnosing and discriminating between the different locations of endometriotic lesions, with respective sensitivities of 94.7 and 73.1% for vaginal fornix, 88.9 and 66.7% for the uterosacral ligaments and 80.6 and 83.3% for involvement of the rectovaginal septum. The specificity of SCSV and MRI, respectively, was 97.1 and 94.3% for vaginal fornix, 95.6 and 95.6% for uterosacral ligaments and 100 and 77.8% for involvement of the rectovaginal septum. In the diagnosis of rectal endometriosis, we found a sensitivity of 66.7% for both techniques and specificity of 93.8% for SCSV and 95.8% for MRI. CONCLUSION: TVS should be used as the first-line diagnostic technique and SCSV and/or MRI as second-line methods in the diagnosis of posterior DPE.

CT-guided cryoablation of both breast cancer and lymph node axillary metastasis.

Breast conservation is a major goal of cancer treatment. Many different minimally invasive options have been considered such as cryoablation. This technique is the best visualized of all ablation techniques due to the phase change during ice formation. We describe a case of breast cancer with lymph node axillary metastasis treated by CT-guided cryoablation. Cryoablation may have unique benefits for cost-effective outpatient breast cancer therapy using only local anesthesia and/or mild sedation.

Ultrasound in polycystic ovary syndrome--the measuring of ovarian stroma and relationship with circulating androgens: results of a multicentric study.

BACKGROUND: The introduction of transvaginal approach in ultrasound (US) has enabled the accurate evaluation of the structure of the ovary and stroma. Stroma represents an acknowledged US marker for polycystic ovary syndrome (PCOS). The proportion revealed between the stroma and the ovary surface in the median section (S/A ratio) had been indicated as a reliable marker for hyperandrogenism. In order to verify the feasibility of this determination in routine use and to confirm the efficacy of S/A ratio in predicting hyperandrogenism in PCOS, a multicentric study was performed in association with five Italian research groups. METHODS: A total of 418 subjects of fertile age presenting oligomenorrhoea or secondary amenorrhoea, enlarged ovaries measuring >10 cm(3) and/or >12 follicles measuring 2-9 mm in diameter took part in the study. Clinical, US and hormonal evaluations were performed in the early follicular phase or on random days in amenorrhoeic subjects. US assessment included ovarian volume, follicle number, ovarian and stroma area in median section. The hormonal study included a baseline plasma determination of LH, FSH, estradiol (E(2)), androstenedione (A), testosterone (T), dehydroepiandrosteronesulphate, 17-hydroxy-progesterone, sex hormone-binding globulin and prolactin. Correlations and receiver operator curves were used in statistical analysis of data. RESULTS: S/A was found to be the best significant predictor of elevated A and T levels. In order to ascertain significant cut-off values in relation to A and T levels Youden indexes were calculated and indicated 0.32 as the best cut-off for the S/A ratio. CONCLUSIONS: This work underlines the importance of stroma measure in improving US diagnosis of PCOS and suggest that this parameter may be used in routine clinical practice. In fact, multicentre study demonstrated the easy feasibility of such procedure without need of sophisticated machines or intensive training for operators.

Receptor modifications in vulvar dystrophies before and after treatment with topical hormones: comparison between the dextran-charcoal technique and immunohistochemical evaluation.

PURPOSE OF INVESTIGATION: The objective of the study was first to quantify estrogen receptors (ERs) and progesterone receptors (PRs) in dystrophic vulvar tissue before and after topical hormone treatment in an attempt to evaluate whether receptor modifications occurred. Second we compared quantitative analysis with immunohistochemical staining of the vulvar specimens. METHODS: We studied 115 vulvar specimens obtained from 75 consenting women ranging from 21 to 78 years of age. Of the patients, 12 had histologically normal vulvar skin, 45 had vulvar dystrophies that were not treated by topical steroid therapy, 28 patients had vulvar dystrophies that were treated by testosterone propionate (TP) 2%, 12 patients had vulvar dystrophies that were treated by progesterone in hydroalcoholic gel and 18 patients had vulvar malignant tumors. For immunohistochemical analysis we considered 25 cases of vulvar dystrophies: 11 cases of squamous hyperplasia (SH) and 14 cases of lichen sclerosus (LS). Among these 25 cases, 15 (5 SH and 10 LS) were treated with TP 2%. RESULTS: After treatment of the vulvar dystrophies with progesterone, the positivity of ERs decreased (58.3% vs 77.8%). After treatment of the vulvar dystrophies with TP 2%, the positivity of PRs significantly decreased (14.3% vs 68.9%) whereas after treatment with progesterone the positivity of PRs increased (83.3%). The immunohistochemical study showed some differences in comparison to the quantitative study. In fact we found low basal positivity especially for PRs (16% vs 68.9% of the quantitative study). This finding was due to the use of a cutoff of at least ++ in order to increase the specificity. After treatment with TP 2%, we observed an increase of immunohistochemical positivity for ERs even in cases that were negative before treatment and a lack of PRs even in cases that were positive before treatment. CONCLUSIONS: These data demonstrate the efficacy of androgen therapy with TP 2% in vulvar dystrophies with increased trophism due to the increase of ERs.

The use of a decremental dose regimen in patients treated with a chronic low-dose step-up protocol for WHO Group II anovulation: a prospective randomized multicentre study.

BACKGROUND: In women with chronic anovulation, the choice of the FSH starting dose and the modality of subsequent dose adjustments are critical in controlling the risk of overstimulation. The aim of this prospective randomized study was to assess the efficacy and safety of a decremental FSH dose regimen applied once the leading follicle was 10-13 mm in diameter in women treated for WHO Group II anovulation according to a chronic low-dose (CLD; 75 IU FSH for 14 days with 37.5 IU increment) step-up protocol. METHODS: Two hundred and nine subfertile women were treated with recombinant human FSH (r-hFSH) (Gonal-f) for ovulation induction according to a CLD step-up regimen. When the leading follicle reached a diameter of 10-13 mm, 158 participants were randomized by means of a computer-generated list to receive either the same FSH dose required to achieve the threshold for follicular development (CLD regimen) or half of this FSH dose [sequential (SQ) regimen]. HCG was administered only if not more than three follicles >or=16 mm in diameter were present and/or serum estradiol (E(2)) values were <1200 pg/ml. The primary outcome measure was the number of follicles >or=16 mm in size at the time of hCG administration. RESULTS: Clinical characteristics and ovarian parameters at the time of randomization were similar in the two groups. Both CLD and SQ protocols achieved similar follicular growth as regards the total number of follicles and medium-sized or mature follicles (>/=16 mm: 1.5 +/- 0.9 versus 1.4 +/- 0.7, respectively). Furthermore, serum E(2) levels were equivalent in the two groups at the time of hCG administration (441 +/- 360 versus 425 +/- 480 pg/ml for CLD and SQ protocols, respectively). The rate of mono-follicular development was identical as well as the percentage of patients who ovulated and achieved pregnancy. CONCLUSIONS: The results show that the CLD step-up regimen for FSH administration is efficacious and safe for promoting mono-follicular ovulation in women with WHO Group II anovulation. This study confirms that maintaining the same FSH starting dose for 14 days before increasing the dose in step-up regimen is critical to adequately control the risk of over-response. Strict application of CLD regimen should be recommended in women with WHO Group II anovulation.

Epidemiology of malignant breast tumors in the province of Sassari (Sardinia, Italy) in the period 1992-2002.

The aim of this study was to evaluate the incidence of malignant breast tumors in the Province of Sassari, Sardinia (Italy) in the period 1992-2002 and to report the variations in comparison to the 1974-1985 period. The analysis of our data showed that the overall number of malignant breast tumors was more than doubled from 1,139 cases in the period 1974-1985 to the 2,735 cases in the period 1992-2002, and the mean rate/100,000 changed from 43.4 to 106.0. The incidence in the age classes 45-64 years, which were at enhanced risk for breast cancer, was globally increased, changing from 143.6/100,000 to 198.7/100,000. On the other hand, the incidence in the youngest age classes (30-34 yrs) was reduced from 59.5% to 27.0%. The analysis of the histotypes showed a relative reduction of ductal carcinoma in the period 1992-2002 in comparison to the previous period 1974-1985 (65.2% vs 82.0%) whereas the incidence of anaplastic forms increased in advanced ages of life. We reported an important reduction of T0 tumors from 3.4% to 0.1%. These data could be due to the low diffusion of screening programs in Sardinia. Tumor metastases were more frequent in advanced age classes. In conclusion, the worrying data of the strong reduction of T0 cases, the increased age of first diagnosis and the advanced forms with positive nodal metastases showed that the prevention program has not been yet well organized.