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.

Pain control and quality of life after laparoscopic en-block resection of deep infiltrating endometriosis (DIE) vs. incomplete surgical treatment with or without GnRHa administration after surgery.

PURPOSE: To evaluate the role of post-surgical medical treatment with GnRHa in patients with DIE (Deep Infiltrating Endometriosis) that received complete or incomplete surgery laparoscopic excision. METHODS: Hundred fifty-nine patients with deep infiltrating endometriosis of the cul-de-sac and of the rectovaginal septum with pelvic pain undergoing laparoscopic surgery in academic tertiary-care medical center. Eighty patients underwent complete laparoscopic excision of DIE (Arm A) while 79 patients underwent incomplete surgery (Arm B). After surgery each surgical arm was randomized in two groups: no treatment groups 1A [40 pts] and 1B [40 pts] and GnRHa treatment for 6 months groups 2A [40 pts] and 2B [39 pts]. Pain recurrence and quality of life were evaluated in follow-up of 12 months and compared between groups. RESULTS: No differences were observed between patient groups 1A and 2A. Groups 1A, 2A and 2B obtained significantly lower pain scores than those achieved by the group 1B undergoing incomplete surgical treatment and no post-surgical therapy. At 1-year follow-up patients treated with en-block resection (Groups 1A and 2A) showed the lowest pain scores and the highest quality of life in comparison with the other two groups (Group 1B and 2B). CONCLUSION: GnRHa administration is followed by a temporary improvement of pain in patients with incomplete surgical treatment. It seems that it has no role on post-surgical pain when the surgeon is able to completely excise DIE implants.

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.

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.

Squamous cell carcinoma arising in mature cystic teratoma of the ovary: report of two cases with molecular analysis.

Mature cystic teratoma (MCT) is the most frequent ovarian tumor and it is generally composed of well-differentiated elements which, nevertheless, have the potential for malignant transformation. The authors report two cases of squamous cell carcinoma (SCC) arising on ovarian MCT. In the present study, no mutation of the CDKN2A gene, whose impairment may deeply affect either the p16(CDKN2A)-CyclinD1-pRb cascade or the p14(CDKN2A)-mdm2-p53 cascade, was observed in tumour tissues from our cases' collection. This suggests that changes in the protein levels for the above-described candidate effectors may be somehow due to epigenetic alterations into the mechanisms controlling their expression. Analogously, no genetic modification among the two main genes (EGFR and KRAS) upstream the MAPK signalling pathway, which has been widely reported to play a major role in both development and progression of vast majority of malignant tumours, was detected in this series. Additional genes and pathways should be therefore investigated in order to identify genomic impairments underlying the MCT malignant transformation.

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.

Immunohistochemical evaluation of epithelial antigen Ber-Ep4 and CD10: new markers for endometriosis?

BACKGROUND: Early and certain diagnoses of endometriosis are mandatory to begin the correct treatment and to exclude the risk of endometriosis-associated ovarian carcinoma (EOC) and endometrial stromal sarcoma (ESS). PURPOSE OF THE STUDY: To assess the immunohistochemical expression of Ber-Ep4, an epithelial antigen, and CD10 in endometriosis. MATERIALS AND METHODS: Forty-eight women underwent laparoscopic surgery for endometriosis and endometriotic samples were recovered for histology. In all surgical specimens Ber-Ep4 and CD10 were searched by an immnohistochemical method. The authors evaluated the correlations among the immunohistochemical positivity and the location of endometriosis. RESULTS: Most cases (40/48 83.34%) were represented by ovarian endometriotic cyst. Among the eight remaining cases, three (3/48, 6.25%) were pelvic endometriotic lesions, two (2/48, 4.17%) peritoneum of vesico-uterine pouch, one vaginal lesion (2.08%), one salpinx lesion (2.08%), and one inguinal location (2.08%). Ber-Ep4 and CD10 were expressed in 90% and in 100% of the ovarian lesions, respectively. In pelvic lesions Ber-Ep4 and CD10 showed both 66.67% of positivity and had the same pattern in peritoneal, salpinx, vaginal, and inguinal lesions (50%, 100%, 100%, 100%, respectively). Ber-Ep4 was negative in 6/48 (12.5%) cases whereas CDO10 was negative in 2/48 (4.17%) cases of endometriosis. The sensitivity of Ber-Ep4 and CD10 for endometriosis diagnosis were 87.50% and 95.83%, respectively. Immunohistochemistry for Ber-Ep4 showed positivity in all cases of endometriosis with typical cubic epithelium, whereas CD10 was positive in 1/2 (50%) atypical case. CONCLUSION: Immunohistochemical expression of Ber-Ep4 and CD10 was positive in most cases of endometriosis and was useful in differential diagnosis with mesothelial cysts. Ber-Ep4 was negative in cases of hyperplastic epithelium or cytological atypia; these cases are not well-differentiated and could be optimally treated by surgery and not by hormonal therapy because of the risk of cancer degeneration.

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.

P16 immunostaining and HPV testing in histological specimens from the uterine cervix.

BACKGROUND: The cellular tumor suppressor protein pl61NK4a (p16) has been identified as a biomarker for transforming human papilloma virus (HPV) infections. P16 is a cyclin-dependent kinase inhibitor that regulates the cell cycle and cell proliferation by inhibiting cell cycle G1 progression. PURPOSE OF THE STUDY: To confirm the role of p16 as biomarker for transforming HPV infections and possible clinical applications in histological samples from the uterine cervix. MATERIALS AND METHODS: The subject of this study included 56 biopsies of the cervical canal collected from January 2012 to September 2012 in the Institute of Pathology of the University of Sassari. The search for HPV immunohistochemistry was performed with the monoclonal antibody DAKO 1:25, while for the detection of p16 was used CINtecTM p16 (INK4a) histology kit. RESULTS: In 56 biopsies performed in women aged between 23 and 69 years, the authors highlighted, by histological analysis, 24 cases of low-grade squamous intraepithelial lesion (LSIL) - cervical intraepithelial neoplasia (CIN1) and 31 cases of high-grade squamous intraepithelial lesion (HSIL) - CIN2/3); 15 CIN2, 14 CIN3, and two cervical squamous cell carcinoma in situ (SCIS). One case was an infiltrating squamous cell carcinoma (ISC). In 24 CIN1, there was a 16.67% positivity for p16 and an equal percentage occurred for HPV. In 15 cases of CIN2 the percentage of positivity for p16 was considerably increased (73.33%), unlike the search for HPV which had a positivity rate of 20%. Finally, in 14 cases of CIN3, and in three carcinomas, the positivity for p16 was equal to 100%, however the search for HPV positivity was between 0% and 7.14%. CONCLUSIONS: These results demonstrated that p16 was a highly sensitive marker of cervical dysplasia. The authors have shown that p16 overexpression increased with the severity of cytological abnormalities and that had a greater ability to identify the viral infection compared to the classical immunohistochemical staining for HPV.

Analysis of epidermal growth factor receptor (EGFR) status in endometrial stromal sarcoma.

PURPOSE: Endometrial stromal sarcomas (ESSs) are rare neoplasms, which are currently treated by surgery, whereas effective adjuvant therapies have not yet been established. Recently, epidermal growth factor receptor (EGFR) expression has been described in ESS, and a potential role of EGFR-targeted adjuvant therapies has been proposed. The aim of this study was to analyze EGFR status in an ESS series and to evaluate their potential role as molecular targets. MATERIALS AND METHODS: EGFR status was investigated in a total of ten cases of ESS, which included seven low-grade ESS and three undifferentiated ESS cases. EGFR expression levels were assessed by immunohistochemistry, and gene amplification analysis was performed with dual-color fluorescence in situ hybridization (FISH). RESULTS: Nine out of ten ESS cases showed positive immunostaining, whereas FISH analysis demonstrated constantly negative results. CONCLUSIONS: This study confirmed that EGFR is frequently overexpressed in ESS. FISH analysis did not show EGFR amplification in any of the tumors, therefore EGFR expression in ESS should be related to different genetic mechanisms.

Successful delivery after surgical repair of uterine rupture at 15 weeks of gestation: case report and brief review.

OBJECTIVE: Second-trimester uterine rupture is a rare disorder and it is unclear if it should be managed with caesarean section, repair or hysterectomy. This article provides a case report of second-trimester uterine rupture repair, and reviews the risk factors, signs and symptoms, suturing technique and newborn outcome. METHODS: PubMed was searched using the terms 'uterine rupture', 'second trimester' and 'repair' Only cases of second-trimester uterine rupture repair that led to successful prolongation of pregnancy were included. RESULTS: The main risk factor of uterine rupture is previous caesarean section (5/10, 50%). Eight of 10 cases presented with abdominal pain and three cases presented in shock. Haemoperitoneum was present in five cases. The mean and median gestational age at delivery were 33.4 and 33.5 weeks, respectively (range 28-37 weeks), with mean and median delayed interval delivery of 95.5 and 91 days, respectively (range 14-147 days). Neonatal outcome was good for 10 of 11 newborns. Despite the early onset of uterine rupture, there were no cases of extremely preterm delivery. One early preterm infant, seven moderate-to-late preterm infants and one term infant were delivered. CONCLUSIONS: The lack of extremely preterm deliveries and good neonatal outcomes encourage attempts to repair the uterus after second-trimester rupture.