Obstetrics and Reproductive Medicine

Siena, Italy

Obstetrics and Reproductive Medicine

Siena, Italy

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Anichini C.,Obstetrics and Reproductive Medicine | Lotti F.,Obstetrics and Reproductive Medicine | Rizzo C.L.,University of Siena | Longini M.,Obstetrics and Reproductive Medicine | And 4 more authors.
Anticancer Research | Year: 2013

Background: Costello syndrome is a rare genetic condition characterized by coarse facies, short stature, loose folds of skin especially on hands and feet, severe feeding difficulties and failure to thrive. Other features include cardiac anomalies, developmental disability and increased risk of neoplasms. Given the link between oxidative stress (OS) and carcinogenesis, we tested the hypothesis that OS occurs in this syndrome, supposing its role both in cancer development and in other clinical features. Patients and Methods: We describe four cases with Costello syndrome in which we verified the presence of OS by measuring a redox biomarker profile including total hydroperoxides, nonprotein- bound iron, advanced oxidation protein products, thyols, carbonyl groups and isoprostanes. Thus, we introduced an antioxidant agent, namely potassium ascorbate with ribose (PAR) into the therapy and monitored the redox profile every three months to verify its efficacy. Results: A progressive decrease in OS biomarkers occurred, together with an improvement in the clinical features of the patients. Conclusion: OS was proven in all four cases of Costello syndrome. The antioxidant therapy with PAR demonstrated positive effects. These promising results need further research to confirm the relevance of OS and the efficacy of PAR therapy in Costello syndrome. © 2013 Anticancer Research.


Lavoue V.,Rennes University Hospital Center | Lavoue V.,University of Rennes 1 | Fritel X.,University of Poitiers | Fritel X.,French Institute of Health and Medical Research | And 34 more authors.
European Journal of Obstetrics Gynecology and Reproductive Biology | Year: 2016

Screening with breast ultrasound in combination with mammography is needed to investigate a clinical breast mass (Grade B), colored single-pore breast nipple discharge (Grade C), or mastitis (Grade C). The BI-RADS system is recommended for describing and classifying abnormal breast imaging findings. For a breast abscess, a percutaneous biopsy is recommended in the case of a mass or persistent symptoms (Grade C). For mastalgia, when breast imaging is normal, no MRI or breast biopsy is recommended (Grade C). Percutaneous biopsy is recommended for a BI-RADS category 4-5 mass (Grade B). For persistent erythematous nipple or atypical eczema lesions, a nipple biopsy is recommended (Grade C). For distortion and asymmetry, a vacuum core-needle biopsy is recommended due to the risk of underestimation by simple core-needle biopsy (Grade C). For BI-RADS category 4-5 microcalcifications without any ultrasound signal, a minimum 11-G vacuum core-needle biopsy is recommended (Grade B). In the absence of microcalcifications on radiography cores additional samples are recommended (Grade B). For atypical ductal hyperplasia, atypical lobular hyperplasia, lobular carcinoma in situ, flat epithelial atypia, radial scar and mucocele with atypia, surgical excision is commonly recommended (Grade C). Expectant management is feasible after multidisciplinary consensus. For these lesions, when excision margins are not clear, no new excision is recommended except for LCIS characterized as pleomorphic or with necrosis (Grade C). For grade 1 phyllodes tumor, surgical resection with clear margins is recommended. For grade 2 phyllodes tumor, 10 mm margins are recommended (Grade C). For papillary breast lesions without atypia, complete disappearance of the radiological signal is recommended (Grade C). For papillary breast lesions with atypia, complete surgical excision is recommended (Grade C). © 2016 Elsevier Ireland Ltd. All rights reserved.


De Leo B.,University of California at San Francisco | Mcintire R.H.,University of California at San Francisco | Aghajanova L.,University of California at San Francisco | Petraglia F.,Obstetrics and Reproductive Medicine | Giudice L.C.,University of California at San Francisco
Journal of Endometriosis | Year: 2012

Purpose: To investigate expression of molecular transporters and CYP4B1 in endometrium from women with and without endometriosis. Methods: Expression of genes encoding proteins: ATP-binding cassette sub-family G member 1 (ABCG1), aquaporin 3 (AQP3), solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), and transmembrane emp24 protein transport domain containing 6 (TMED6), as well as a member of the cytochrome P450 family 4 subfamily B, polypeptide 1 (CYP4B1) were assessed by quantitative (Q)RT-PCR in proliferative (PE) and early secretory (ESE) endometrium from 27 normoovulatory women with and without endometriosis. Cellular localization of these proteins was determined by immunohistochemistry. Results: In eutopic endometrial tissue from women without endometriosis, mRNA expression of ABCG1, CYP4B1, and SLC16A6 was significantly up-regulated in the PE to ESE transition. CYP4B1 mRNA in endometrium from women with disease increased significantly compared to samples from women without disease, while there was no change in ABCG1 and SLC16A6 mRNA levels. However, immunodetection of ABCG1, AQP3, and TMED6 was similar across cycle phases, and there was no significant difference in immunostaining intensity or localization between women with and without endometriosis. Conclusions: Molecular transporters and CYP4B1 are expressed in human endometrium, and a role for transporters and CYP4B1 in normal endometrial function and in women with endometriosis remains to be determined. © 2012 Wichtig Editore.


PubMed | Mastology Unit, Montpellier University, CHI, Center Regional Of Lutte Contre Le Cancer Paoli Calmettes and 17 more.
Type: | Journal: European journal of obstetrics, gynecology, and reproductive biology | Year: 2016

Screening with breast ultrasound in combination with mammography is needed to investigate a clinical breast mass (Grade B), colored single-pore breast nipple discharge (Grade C), or mastitis (Grade C). The BI-RADS system is recommended for describing and classifying abnormal breast imaging findings. For a breast abscess, a percutaneous biopsy is recommended in the case of a mass or persistent symptoms (Grade C). For mastalgia, when breast imaging is normal, no MRI or breast biopsy is recommended (Grade C). Percutaneous biopsy is recommended for a BI-RADS category 4-5 mass (Grade B). For persistent erythematous nipple or atypical eczema lesions, a nipple biopsy is recommended (Grade C). For distortion and asymmetry, a vacuum core-needle biopsy is recommended due to the risk of underestimation by simple core-needle biopsy (Grade C). For BI-RADS category 4-5 microcalcifications without any ultrasound signal, a minimum 11-G vacuum core-needle biopsy is recommended (Grade B). In the absence of microcalcifications on radiography cores additional samples are recommended (Grade B). For atypical ductal hyperplasia, atypical lobular hyperplasia, lobular carcinoma in situ, flat epithelial atypia, radial scar and mucocele with atypia, surgical excision is commonly recommended (Grade C). Expectant management is feasible after multidisciplinary consensus. For these lesions, when excision margins are not clear, no new excision is recommended except for LCIS characterized as pleomorphic or with necrosis (Grade C). For grade 1 phyllodes tumor, surgical resection with clear margins is recommended. For grade 2 phyllodes tumor, 10mm margins are recommended (Grade C). For papillary breast lesions without atypia, complete disappearance of the radiological signal is recommended (Grade C). For papillary breast lesions with atypia, complete surgical excision is recommended (Grade C).


Vlassaks E.,Maastricht University | Nikiforou M.,Maastricht University | Strackx E.,Maastricht University | Hutten M.,Maastricht University | And 7 more authors.
Journal of Developmental Origins of Health and Disease | Year: 2014

Hypoxic-ischemic encephalopathy (HIE) caused by fetal and perinatal asphyxia is an important cause of mortality in the neonatal period. Not only will asphyxia affect the brain but also other organs such as the liver and kidneys. Interestingly, it has been shown that liver damage is proportional to the severity of the asphyctic insult, implying an association between liver impairment and HIE. Accordingly, we investigated in an established rat model the acute and chronic hepatic response to both fetal (FA) and perinatal asphyxia (PA). In addition, we assessed whether fetal asphyctic preconditioning (PC) would have any beneficial effect on the liver. Inflammation, ceramide signaling and hepatocellular damage were analyzed in the livers of newborn and adult rats at several short-and long-term time points after both FA and PA. We found that although FA induced an acute inflammatory response, apoptotic mRNA levels and oxidative DNA damage were decreased at 96 h post FA. Whereas increased IL-6 and IL-10 mRNA levels were observed after PA, the combination of FA and PA (PC) attenuated the inflammatory response. Moreover, 6 h after PA anti-apoptotic genes were downregulated and associated with less lipid peroxidation, while preconditioned animals were comparable to controls. In summary, asphyctic PC seems to have an acute protective effect on the liver by modulating the inflammatory, apoptotic and anti-oxidative response. More insight into the hepatic response to asphyxia is necessary, as disturbed hepatic function is associated with metabolic diseases in later life. © 2014 Cambridge University Press.


Novembri R.,Obstetrics and Reproductive Medicine | Carrarelli P.,Obstetrics and Reproductive Medicine | Toti P.,University of Siena | Rocha A.L.L.,Federal University of Minas Gerais | And 5 more authors.
Molecular Human Reproduction | Year: 2011

Urocortin 2 (Ucn 2) and urocortin 3 (Ucn 3) are neuropeptides expressed by human endometrium. This study evaluated (i) the expression of Ucn 2 and Ucn 3 mRNA in endometriotic lesions and in endometrium of women with endometriosis; (ii) the effect of Ucn 2 and Ucn 3 on cytokines secretion from cultured endometrial stromal cells. Endometriotic tissue was collected from endometrioma (n = 39); endometrial specimens were obtained from women with (n = 39) and without (n = 41) endometriosis throughout menstrual cycle. Tissue specimens were analysed for Ucn 2 and Ucn 3 mRNA expression and peptide localization; the effects of Ucn 2 or Ucn 3 on tumour necrosis factor (TNF-α) and interleukin (IL-4) secretion from cultured endometrial stromal cells was studied. Ucn 2 and Ucn 3 mRNA expression and localization were assessed by RT-PCR and by immuohistochemistry, respectively; cytokines secretion were measured by ELISA. Results showed that endometriotic tissue expressed both Ucn 2 and Ucn 3, with Ucn 3 expression higher in ectopic than in eutopic endometrium. Endometrial Ucn 2 mRNA expression in controls showed peak values at early proliferative phase, while in endometriotic patients low expression and no significant changes throughout menstrual cycle were observed. Endometrial Ucn 3 mRNA expression was highest in late secretory phase in controls, while in endometriotic patients low levels and no menstrualcycle-related changes were found. When added to cultured endometrial cell cultures, Ucn 2 significantly increased TNF-α (P< 0.01) and IL-4 (P< 0.001), while Ucn 3 induced an increase of IL-4 secretion (P< 0.01). In conclusion, endometriotic tissue expressed and localized Ucn 2 and Ucn 3; patients with endometriosis showed Ucn 2 and Ucn 3 mRNA expression in eutopic endometrium lower than in control group, with no endometrial cycle-related changes. Ucn 2 and Ucn 3-modulated TNF-α and IL-4 secretion from culture endometrial cells. These data suggest a possible involvement of Ucn 2 and Ucn 3 in the mechanisms of endometriosis. © The Author 2011. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.


Hadjistilianou T.,Referral Center for Retinoblastoma | Coriolani G.,Obstetrics and Reproductive Medicine | Bracco S.,Neuroimaging and Neurointervention Unit | Gennari P.,Neuroimaging and Neurointervention Unit | And 6 more authors.
Journal of Pediatric Ophthalmology and Strabismus | Year: 2014

Purpose: To report our experience with superselective ophthalmic artery infusion of melphalan (SOAIM) for macular retinoblastoma to obtain tumor control while preserving as much useful vision as possible. Methods: Five patients with newly diagnosed unilateral retinoblastoma involving the macula were selected within a group of patients eligible for SOAIM as the primary treatment. Results: The mean tumor basal dimension and thickness in this group of five patients with macular retinoblastoma were 11.6 and 12.3 mm, respectively. The stage at diagnosis ranged from II to VB (Reese-Ellsworth) or B to D (International Classification System). Tumor regression with SOAIM was achieved in all cases with regression patterns type I in four cases and III in one case. Conclusions: SOAIM can be of value in the treatment of macular retinoblastoma. It may allow the salvage of the residual eyesight with a low rate of complications due to the local and systemic toxicity related to chemotherapy.


Buoni S.,Obstetrics and Reproductive Medicine | Zannolli R.,University of Siena | De Felice C.,S Maria Alle Scotte Hospital | De Nicola A.,Obstetrics and Reproductive Medicine | And 9 more authors.
Clinical Neurophysiology | Year: 2010

Objective: To assess the presence/absence of peculiar EEG features and epilepsy in MECP2-mutated Rett patients with the Zappella-Rett variant (Z-RTT) also known as preserved speech variant. Methods: Retrospective analysis of 16 (age 19.4 ± 8.4 years; range 8-38 years) MECP2 mutated Z-RTT cases, including 11 high or intermediate performance (HIP), and five low-performance (LP) patients was performed. Peculiar EEG features were analyzed as a function of the HIP or LP Z-RTT categories: (1) centro-temporal spikes, (2) multifocal EEG activity, (3) EEG encephalopathy (i.e. multifocal EEG activity associated with the presence of background slowing and diffuse slow activity), (4) spindles and K-complex. Furthermore, we assessed the occurrence of epilepsy. Correlations between electroclinical features and category of Z-RTT genotype (missense or truncation mutation) were also tested. Results: The Z-RTT HIP group showed a very abnormal EEG (presence of centro-temporal spikes: p = 0.004808), although the cases studied were not epileptogenic and did not develop encephalopathy. The LP group showed multifocal EEG activity (p = 0.000229), EEG encephalopathy (p = 0.000229) and epilepsy (p = 0.299451). No significant differences between the prevalence of centro-temporal spikes, multifocal EEG activity, EEG encephalopathy, and epilepsy between the patients with the truncation or missense mutation were observed. Conclusions: EEG electrophysiological patterns and epileptogenic susceptibility differ in Z-RTT according to the level of performance (i.e. HIP or LP). Significance: These results indicate that HIP and LP Z-RTT should be considered as distinct entities, not only on a clinical basis, but also as it concerns EEG features and epileptogenic susceptibility. These results could offer support in the practical management of patients and family counseling. © 2010 International Federation of Clinical Neurophysiology.

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