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OBJECTIVE: To describe the clinical and ultrasound characteristics of recurrent granulosa cell and Sertoli-Leydig cell tumors. METHODS: This was a retrospective observational study performed at Fondazione Policlinico Universitario A. Gemelli, Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS, Rome (Gemelli center), Italy. Patients with a histological diagnosis of recurrent granulosa cell tumor or Sertoli-Leydig cell tumor were identified from the database of the Department of Gynecological Oncology. Those who had undergone a preoperative ultrasound examination at the Gemelli center between 2012 and 2020 were included, and the data retrieved from the original ultrasound reports. In all of these reports, the recurrent tumors were described using International Ovarian Tumor Analysis (IOTA) terminology. If a patient had more than one episode of relapse, information from all episodes was collected. If there was more than one recurrent tumor at the same ultrasound examination, all tumors were included. One expert sonographer also reviewed all available ultrasound images to identify typical ultrasound patterns using pattern recognition. RESULTS: We identified 30 patients with a histological diagnosis of recurrent granulosa cell tumor (25 patients, 55 tumors) or Sertoli-Leydig cell tumor (five patients, seven tumors). All 30 had undergone at least one preoperative ultrasound examination at the Gemelli center and were included. These women had a total of 66 episodes of relapse, of which a preoperative ultrasound examination had been performed at the Gemelli center in 34, revealing 62 recurrent lesions: one in 22/34 (64.7%) episodes of relapse, two in 4/34 (11.8%) episodes and three or more in 8/34 (23.5%) episodes. Most recurrent granulosa cell tumors (38/55, 69.1%) and recurrent Sertoli-Leydig tumors (6/7, 85.7%) were classified as solid or multilocular-solid tumors, while 8/55 (14.5%) recurrent granulosa cell tumors and 1/7 (14.3%) recurrent Sertoli-Leydig cell tumors were unilocular cysts and 9/55 (16.4%) recurrent granulosa cell tumors were multilocular cysts. The nine unilocular cysts had contents that were anechoic (n = 2) or had low-level echogenicity (n = 7), had either smooth (n = 4) or irregular (n = 5) internal cyst walls, and ranged in largest diameter from 8 to 38 mm, with three being < 20 mm and five being 20-30 mm. On retrospective review of the images, two typical ultrasound patterns were described: small solid tumor measuring < 2 cm (15/62, 24.2%) and tumor with vascularized echogenic ground-glass-like content (12/62, 19.4%). CONCLUSIONS: Some granulosa cell and Sertoli-Leydig cell recurrences manifest one of two typical ultrasound patterns, while some appear as unilocular cysts. These are usually classified as benign, but in patients being followed up for a granulosa cell tumor or Sertoli-Leydig cell tumor, a unilocular cyst should be considered suspicious of recurrence. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
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Quistes , Enfermedades de los Genitales Femeninos , Tumor de Células de la Granulosa , Neoplasias Ováricas , Tumor de Células de Sertoli-Leydig , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Embarazo , Masculino , Humanos , Femenino , Tumor de Células de Sertoli-Leydig/diagnóstico por imagen , Tumor de Células de la Granulosa/diagnóstico por imagen , Recurrencia Local de Neoplasia/diagnóstico por imagen , Ultrasonografía , Neoplasias Ováricas/diagnóstico por imagen , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico por imagen , Recurrencia , Células del EstromaRESUMEN
OBJECTIVE: Our primary aim was to identify radiomic ultrasound features that can distinguish benign from malignant adnexal masses with solid ultrasound morphology, and primary invasive from metastatic solid ovarian masses, and to develop ultrasound-based machine learning models that include radiomics features to discriminate between benign and malignant solid adnexal masses. Our secondary aim was to compare the diagnostic performance of our radiomics models with that of the ADNEX model and subjective assessment by an experienced ultrasound examiner. METHODS: This is a retrospective observational single center study. Patients with a histological diagnosis of an adnexal tumor with solid morphology at preoperative ultrasound examination performed between 2014 and 2021 were included. The patient cohort was split into training and validation sets with a ratio of 70:30 and with the same proportion of benign and malignant (borderline, primary invasive and metastatic) tumors in the two subsets. The extracted radiomic features belonged to two different families: intensity-based statistical features and textural features. Models to predict malignancy were built based on a random forest classifier, fine-tuned using 5-fold cross-validation over the training set, and tested on the held-out validation set. The variables used in model building were patient's age, and those radiomic features that were statistically significantly different between benign and malignant adnexal masses (Wilcoxon-Mann-Whitney Test with Benjamini-Hochberg correction for multiple comparisons) and assessed as not redundant based on the Pearson correlation coefficient. We describe discriminative ability as area under the receiver operating characteristics curve (AUC) and classification performance as sensitivity and specificity. RESULTS: 326 patients were identified and 775 preoperative ultrasound images were analyzed. 68 radiomic features were extracted, 52 differed statistically significantly between benign and malignant tumors in the training set, and 18 features were selected for inclusion in model building. The same 52 radiomic features differed statistically significantly between benign, primary invasive malignant and metastatic tumors. However, the values of the features manifested overlap between primary malignant and metastatic tumors and did not differ statistically significantly between them. In the validation set, 25/98 tumors (25.5%) were benign, 73/98 (74.5%) were malignant (6 borderline, 57 primary invasive, 10 metastases). In the validation set, a model including only radiomics features had an AUC of 0.80, and 78% sensitivity and 76% specificity at its optimal risk of malignancy cutoff (68% based on Youden's index). The corresponding results for a model including age and radiomics features were 0.79, 86% and 56% (cutoff 60% based on Youden's method), while those of the ADNEX model were 0.88, 99% and 64% (at 20% malignancy cutoff). Subjective assessment had sensitivity 99% and specificity 72%. CONCLUSIONS: Even though our radiomics models had discriminative ability inferior to that of the ADNEX model, our results are promising enough to justify continued development of radiomics analysis of ultrasound images of adnexal masses. This article is protected by copyright. All rights reserved.
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OBJECTIVE: To describe the clinical and ultrasound characteristics of ovarian carcinosarcoma. METHODS: This was a retrospective multicenter study. Patients with a histological diagnosis of ovarian carcinosarcoma, who had undergone preoperative ultrasound examination between 2010 and 2019, were identified from the International Ovarian Tumor Analysis (IOTA) database. Additional patients who were examined outside of the IOTA study were identified from the databases of the participating centers. The masses were described using the terms and definitions of the IOTA group. Additionally, two experienced ultrasound examiners reviewed all available images to identify typical ultrasound features using pattern recognition. RESULTS: Ninety-one patients with ovarian carcinosarcoma who had undergone ultrasound examination were identified, of whom 24 were examined within the IOTA studies and 67 were examined outside of the IOTA studies. Median age at diagnosis was 66 (range, 33-91) years and 84/91 (92.3%) patients were postmenopausal. Most patients (67/91, 73.6%) were symptomatic, with the most common complaint being pain (51/91, 56.0%). Most tumors (67/91, 73.6%) were International Federation of Gynecology and Obstetrics (FIGO) Stage III or IV. Bilateral lesions were observed on ultrasound in 46/91 (50.5%) patients. Ascites was present in 38/91 (41.8%) patients. The median largest tumor diameter was 100 (range, 18-260) mm. All ovarian carcinosarcomas contained solid components, and most were described as solid (66/91, 72.5%) or multilocular-solid (22/91, 24.2%). The median diameter of the largest solid component was 77.5 (range, 11-238) mm. Moderate or rich vascularization was found in 78/91 (85.7%) cases. Retrospective analysis of ultrasound images and videoclips using pattern recognition in 73 cases revealed that all tumors had irregular margins and inhomogeneous echogenicity of the solid components. Forty-seven of 73 (64.4%) masses appeared as a solid tumor with cystic areas. Cooked appearance of the solid tissue was identified in 28/73 (38.4%) tumors. No pathognomonic ultrasound sign of ovarian carcinosarcoma was found. CONCLUSIONS: Ovarian carcinosarcomas are usually diagnosed in postmenopausal women and at an advanced stage. The most common ultrasound appearance is a large solid tumor with irregular margins, inhomogeneous echogenicity of the solid tissue and cystic areas. The second most common pattern is a large multilocular-solid mass with inhomogeneous echogenicity of the solid tissue. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
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Carcinosarcoma/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Complicaciones Neoplásicas del Embarazo/diagnóstico por imagen , Adulto , Ascitis , Carcinosarcoma/patología , Bases de Datos Factuales , Femenino , Humanos , Persona de Mediana Edad , Estadificación de Neoplasias , Neoplasias Ováricas/patología , Embarazo , Complicaciones Neoplásicas del Embarazo/patología , Pronóstico , Estudios Retrospectivos , Ultrasonografía Doppler en Color/métodosRESUMEN
OBJECTIVE: To compare the ultrasound characteristics of patients with synchronous primary cancers of the endometrium and ovary vs those of patients with endometrial cancer with ovarian metastasis. METHODS: This was a single-institution retrospective observational study of patients with a histological diagnosis of endometrial cancer and an ovarian malignant mass, who had undergone preoperative ultrasound examination at our unit. Based on the histological diagnosis, patients were classified into two groups: those with synchronous primary cancers of the endometrium and ovary (synchronous group) and patients with endometrial cancer with ovarian metastasis (metastasis group). We compared the ultrasound features of ovarian malignant masses and of endometrial cancers between the two groups. Student's t-test, Mann-Whitney U-test, χ2 test or Fisher's exact test were used for comparisons of variables between the two histological groups, as appropriate. RESULTS: We identified 131 patients, of whom 51 had synchronous primary cancers of the endometrium and ovary (synchronous group) and 80 had endometrial cancer with ovarian metastasis (metastasis group). On ultrasound examination, ovarian masses in the synchronous group were more often multilocular-solid and less often bilateral than those in the metastasis group. With respect to the ultrasound features of the endometrial lesions, the median largest diameter was 29 (range, 11-118) mm in the synchronous group in comparison with 51.5 (range, 6-150) mm in the metastasis group (P < 0.0001). Endometrial lesions in the synchronous group presented more often with no myometrial infiltration and less often with a multiple-vessel pattern on color Doppler compared with the endometrial lesions in the metastasis group. CONCLUSIONS: Synchronous primary cancers of the endometrium and ovary have significantly different sonomorphological patterns compared with endometrial cancer with ovarian metastasis. Ovarian masses in women with synchronous primary cancers of the endometrium and ovary appeared as unilateral multilocular-solid or solid masses, whereas ovarian masses in women with endometrial cancer with ovarian metastasis were mostly bilateral solid masses. The different sonomorphology of these two cancers may facilitate their preoperative identification, helping the surgeon to determine optimum management for the patient. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
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Carcinoma Endometrioide/diagnóstico por imagen , Neoplasias Endometriales/diagnóstico por imagen , Neoplasias Primarias Múltiples/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Carcinoma Endometrioide/secundario , Neoplasias Endometriales/patología , Femenino , Humanos , Persona de Mediana Edad , Metástasis de la Neoplasia , Neoplasias Ováricas/secundario , Valor Predictivo de las Pruebas , UltrasonografíaRESUMEN
OBJECTIVE: To describe the clinical and ultrasound characteristics of serous cystadenofibromas in the adnexa. METHODS: This was a retrospective study of patients identified in the International Ovarian Tumor Analysis (IOTA) database, who had a histological diagnosis of serous cystadenofibroma and had undergone preoperative ultrasound examination by an experienced ultrasound examiner, between 1999 and 2012. In the IOTA database, which contains data collected prospectively, the tumors were described using the terms and definitions of the IOTA group. In addition, three authors reviewed, first independently and then together, ultrasound images of serous cystadenofibromas and described them using pattern recognition. RESULTS: We identified 233 women with a histological diagnosis of serous cystadenofibroma. In the IOTA database, most cystadenofibromas (67.4%; 157/233) were described as containing solid components but 19.3% (45/233) were described as multilocular cysts and 13.3% (31/233) as unilocular cysts. Papillary projections were described in 52.4% (122/233) of the cystadenofibromas. In 79.5% (97/122) of the cysts with papillary projections, color Doppler signals were absent in the papillary projections. Most cystadenofibromas (83.7%; 195/233) manifested no or minimal color Doppler signals. On retrospective analysis of 201 ultrasound images of serous cystadenofibromas, using pattern recognition, 10 major types of ultrasound appearance were identified. The most common pattern was a unilocular solid cyst with one or more papillary projections, but no other solid components (25.9%; 52/201). The second most common pattern was a multilocular solid mass with small solid component(s), but no papillary projections (19.4%; 39/201). The third and fourth most common patterns were multi- or bilocular cyst (16.9%; 34/201) and unilocular cyst (11.9%; 24/201). Using pattern recognition, shadowing was identified in 39.8% (80/201) of the tumors, and microcystic appearance of the papillary projections was observed in 34 (38.6%) of the 88 tumors containing papillary projections. CONCLUSIONS: The ultrasound features of serous cystadenofibromas vary. The most common pattern is a unilocular solid cyst with one or more papillary projections but no other solid components, with absent color Doppler signals. Most serous cystadenofibromas were poorly vascularized on color Doppler examination and many manifested acoustic shadowing. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
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Anexos Uterinos/diagnóstico por imagen , Cistoadenofibroma/diagnóstico por imagen , Enfermedades de los Genitales Femeninos/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Ultrasonografía/métodos , Anexos Uterinos/patología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Cistoadenofibroma/patología , Quistes/patología , Bases de Datos Factuales , Femenino , Enfermedades de los Genitales Femeninos/patología , Humanos , Persona de Mediana Edad , Neoplasias Ováricas/patología , Periodo Preoperatorio , Estudios Retrospectivos , Ultrasonografía Doppler en Color/métodos , Ultrasonografía Doppler en Color/estadística & datos numéricos , Adulto JovenRESUMEN
OBJECTIVE: To describe the clinical and ultrasound characteristics of uterine sarcomas. METHODS: This was a retrospective multicenter study. From the databases of 13 ultrasound centers, we identified patients with a histological diagnosis of uterine sarcoma with available ultrasound reports and ultrasound images who had undergone preoperative ultrasound examination between 1996 and 2016. As the first step, each author collected information from the original ultrasound reports from his/her own center on predefined ultrasound features of the tumors and by reviewing the ultrasound images to identify information on variables not described in the original report. As the second step, 16 ultrasound examiners reviewed the images electronically in a consensus meeting and described them using predetermined terminology. RESULTS: We identified 116 patients with leiomyosarcoma, 48 with endometrial stromal sarcoma and 31 with undifferentiated endometrial sarcoma. Median age of the patients was 56 years (range, 26-86 years). Most patients were symptomatic at diagnosis (164/183 (89.6%)), the most frequent presenting symptom being abnormal vaginal bleeding (91/183 (49.7%)). Patients with endometrial stromal sarcoma were younger than those with leiomyosarcoma and undifferentiated endometrial sarcoma (median age, 46 years vs 57 and 60 years, respectively). According to the assessment by the original ultrasound examiners, the median diameter of the largest tumor was 91 mm (range, 7-321 mm). Visible normal myometrium was reported in 149/195 (76.4%) cases, and 80.0% (156/195) of lesions were solitary. Most sarcomas (155/195 (79.5%)) were solid masses (> 80% solid tissue), and most manifested inhomogeneous echogenicity of the solid tissue (151/195 (77.4%)); one sarcoma was multilocular without solid components. Cystic areas were described in 87/195 (44.6%) tumors and most cyst cavities had irregular walls (67/87 (77.0%)). Internal shadowing was observed in 42/192 (21.9%) sarcomas and fan-shaped shadowing in 4/192 (2.1%). Moderate or rich vascularization was found on color-Doppler examination in 127/187 (67.9%) cases. In 153/195 (78.5%) sarcomas, the original ultrasound examiner suspected malignancy. Though there were some differences, the results of the first and second steps of the analysis were broadly similar. CONCLUSIONS: Uterine sarcomas typically appear as solid masses with inhomogeneous echogenicity, sometimes with irregular cystic areas but only very occasionally with fan-shaped shadowing. Most are moderately or very well vascularized. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
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Neoplasias Endometriales/patología , Leiomiosarcoma/patología , Sarcoma Estromático Endometrial/patología , Neoplasias Uterinas/patología , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Endometriales/diagnóstico por imagen , Femenino , Humanos , Leiomiosarcoma/diagnóstico por imagen , Persona de Mediana Edad , Estudios Retrospectivos , Sarcoma Estromático Endometrial/diagnóstico por imagen , Ultrasonografía Doppler en Color , Neoplasias Uterinas/diagnóstico por imagenRESUMEN
A hysterectomy for enlarged uteri is considered a challenge for gynaecologic surgeons, due to the limit of exposure to surgical spaces. Our objective is to investigate the different variables that may have an impact on the risk of conversion to open surgery. This is a retrospective cohort study consisting of 133 women who were submitted to surgery for uterine fibroids and who underwent total hysterectomy by laparoscopic approach attempt. The median uterus weight was 622 grams (range 301-3882) and the median maximum diameter of the bigger fibroid was 74 mm (range 33-148). We registered 13 (9.8%) cases of conversion to laparotomy. Minor and major post-operative complications were recorded in 4 (3%) and in 4 (3%) cases, respectively. After multivariable analysis, the surgeon's experience (OR: 0.24; 95% CI: 0.06-0.94, p = .027) and a maximum diameter of the biggest fibroid ≥10 cm (4.7; 1.39-15.87; p = .046), but not the uterus weight were associated with the risk of conversion to open surgery. IMPACT STATEMENT What is already known on this subject? Laparoscopic procedures for enlarged uteri are well described in literature; however, the only parameters that have been studied for the success of a laparoscopic procedure have been the uterus weight and the surgeon's experience. What do the results of this study add? This study aimed to value all the possible variables related to the successful of laparoscopic procedures; in fact, we investigated not only the uterine weight, but in our multivariate analysis, the position of the fibroids, the trocar's setting, etc. were analysed. What are the implications of these findings for clinical practice and/or further research? This study reported novel data about the feasibility of laparoscopic hysterectomy for enlarged uteri. In opposition to the literature, the uterine weight is not a predictive value for laparotomic conversion. Moreover, we discussed the possible reasons of our novel findings. It opens new perspective to create a predictive value of laparoscopic feasibility for the different types of enlarged uteri.
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Conversión a Cirugía Abierta/estadística & datos numéricos , Histerectomía/métodos , Laparoscopía/métodos , Leiomioma/cirugía , Neoplasias Uterinas/cirugía , Adulto , Anciano , Índice de Masa Corporal , Estudios de Cohortes , Femenino , Humanos , Histerectomía/estadística & datos numéricos , Laparoscopía/estadística & datos numéricos , Laparotomía , Leiomioma/patología , Persona de Mediana Edad , Tamaño de los Órganos , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos , Neoplasias Uterinas/patología , Útero/patologíaRESUMEN
OBJECTIVE: To describe the clinical and ultrasound characteristics of ovarian pure clear cell carcinoma. METHODS: This was a retrospective study involving data from 11 ultrasound centers. From the International Ovarian Tumor Analysis (IOTA) database, 105 patients who had undergone preoperative ultrasound examination by an experienced ultrasound examiner between 1999 and 2016 were identified with a histologically confirmed pure clear cell carcinoma of the ovary. An additional 47 patients diagnosed with pure clear cell carcinoma between 1999 and 2016 and with available complete preoperative ultrasound reports were identified retrospectively from the databases of the departments of gynecological oncology in the participating centers. The ultrasound images of all tumors were described using IOTA terminology. Clinical and ultrasound characteristics were analyzed for the whole group, and separately, for patients with and those without histologically confirmed endometriosis, and for patients with evidence of tumor developing from endometriosis. RESULTS: Median age of the 152 patients was 53.5 (range, 28-92) years and 92/152 (60.5%) tumors were FIGO Stage I. Most tumors (128/152, 84.2%) were unilateral. On ultrasound examination, all tumors contained solid components and 36/152 (23.7%) were completely solid masses. The median largest diameter of the lesion was 117 (range, 25-310) mm. Papillary projections were present in 58/152 (38.2%) masses and, in most of these (51/56, 91.1%), vascularized papillary projections were seen. Information regarding the presence, site and type of pelvic endometriosis at histology was available for 130/152 patients. Endometriosis was noted in 54 (41.5%) of these. In 24/130 (18.6%) patients, the tumor was judged to have developed from endometriosis. Patients with, compared to those without, evidence of tumor developing from endometriosis were younger (median 47.5 vs 55.0 years, respectively), and ground-glass echogenicity of cyst fluid was more common in pure clear cell cancers developing from endometriosis (10/20 vs 13/79 (50.0% vs 16.5%), respectively). CONCLUSIONS: Ovarian pure clear cell carcinoma is usually diagnosed at an early stage and typically appears as a large unilateral mass with solid components. Patients with clear cell carcinoma developing from endometriosis are younger than other patients with clear cell carcinoma, and clear cell cancers developing from endometriosis more often manifest ground-glass echogenicity of cyst fluid. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.
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Adenocarcinoma de Células Claras/diagnóstico por imagen , Endometriosis/complicaciones , Neoplasias Ováricas/diagnóstico por imagen , Adenocarcinoma de Células Claras/etiología , Adenocarcinoma de Células Claras/patología , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Endometriosis/diagnóstico por imagen , Femenino , Humanos , Persona de Mediana Edad , Neoplasias Ováricas/etiología , Neoplasias Ováricas/patología , Estudios Retrospectivos , UltrasonografíaAsunto(s)
Ultrasonido Enfocado de Alta Intensidad de Ablación , Leiomioma/cirugía , Leiomiosarcoma/diagnóstico , Imagen por Resonancia Magnética , Neoplasias Uterinas/diagnóstico , Femenino , Humanos , Leiomioma/complicaciones , Persona de Mediana Edad , Resultado del Tratamiento , Neoplasias Uterinas/cirugíaRESUMEN
Aberrant DNA methylation can lead to genome destabilization and to deregulated gene expression. Recently, 5-hydroxymethylcytosine (5hmC), derived from oxidation of 5-methylcytosine (5mC) by the Ten-Eleven Translocation (TET) enzymes, has been detected. 5hmC is now considered as a new epigenetic DNA modification with relevant roles in cell homeostasis regulating DNA demethylation and transcription. Our aim was to investigate possible changes in the DNA methylation/demethylation machinery in MS. We assessed the expression of enzymes involved in DNA methylation/demethylation in peripheral blood mononuclear cells (PBMCs) from 40 subjects with MS and 40 matched healthy controls. We performed also, DNA methylation analysis of specific promoters and analysis of global levels of 5mC and 5hmC. We show that TET2 and DNMT1 expression is significantly down-regulated in MS PBMCs and it is associated with aberrant methylation of their promoters. Furthermore, 5hmC is decreased in MS PBMCs, probably as a result of the diminished TET2 level.
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Citosina/análogos & derivados , Proteínas de Unión al ADN/biosíntesis , Leucocitos Mononucleares/metabolismo , Esclerosis Múltiple/sangre , Esclerosis Múltiple/genética , Proteínas Proto-Oncogénicas/biosíntesis , 5-Metilcitosina/análogos & derivados , Adulto , Estudios de Casos y Controles , Citosina/sangre , ADN (Citosina-5-)-Metiltransferasa 1 , ADN (Citosina-5-)-Metiltransferasas/genética , ADN (Citosina-5-)-Metiltransferasas/metabolismo , Metilación de ADN , Proteínas de Unión al ADN/sangre , Proteínas de Unión al ADN/genética , Dioxigenasas , Regulación hacia Abajo , Femenino , Expresión Génica , Humanos , Masculino , Esclerosis Múltiple/metabolismo , Regiones Promotoras Genéticas , Proteínas Proto-Oncogénicas/sangre , Proteínas Proto-Oncogénicas/genéticaRESUMEN
Current approach to identify BRCA 1/2 carriers in the general population is ineffective as most of the carriers remain undiagnosed. Radiomics is an emerging tool for large scale quantitative analysis of features from standard diagnostic imaging and has been applied also to identify gene mutational status. The objective of this study was to evaluate the clinical and economic impact of integrating a radiogenomics model with clinical and family history data in identifying BRCA mutation carriers in the general population. This cost-effective analysis compares three different approaches to women selection for BRCA testing: established clinical criteria/family history (model 1); established clinical criteria/family history and the currently available radiogenomic model (49% sensitivity and 87% specificity) based on ultrasound images (model 2); same approach used in model 2 but simulating an improvement of the performances of the radiogenomic model (80% sensitivity and 95% specificity) (model 3). All models were trained with literature data. Direct costs were calculated according to the rates currently used in Italy. The analysis was performed simulating different scenarios on the generation of 18-year-old girls in Italy (274,000 people). The main outcome was to identify the most effective model comparing the number of years of BRCA-cancer healthy life expectancy (HLYs). An incremental cost-effectiveness ratio (ICER) was also derived to determine the cost in order to increase BRCA carriers-healthy life span by 1 year. Compared to model 1, model 2 increases the detection rate of BRCA carriers by 41.8%, reduces the rate of BRCA-related cancers by 23.7%, generating over a 62-year observation period a cost increase by 2.51 /Year/Person. Moreover, model 3 further increases BRCA carriers detection (+ 68.3%) and decrease in BRCA-related cancers (- 38.4%) is observed compared to model 1. Model 3 increases costs by 0.7 /Year/Person. After one generation, the estimated ICER in the general population amounts to about 3800 and 653 in model 2 and model 3 respectively. Model 2 has a massive effect after only one generation in detecting carriers in the general population with only a small cost increment. The clinical impact is limited mainly due to the current low acceptance rate of risk-reducing surgeries. Further multicentric studies are required before implementing the integrated clinical-radiogenomic model in clinical practice.
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Análisis de Costo-Efectividad , Neoplasias , Humanos , Femenino , Adolescente , Tamización de Portadores Genéticos , Estado de Salud , Esperanza de Vida SaludableRESUMEN
Uterine fibroids have an impact on women's lives due to their high prevalence, physical symptoms, their consequences on patients' emotional and psychological well-being and loss of work productivity. The choice of therapeutical approaches varies depending on several factors, and therefore should be applied individually. Currently, there is an unmet need for good, reliable, uterine-sparing options. The oral GnRH antagonists (Elagolix, Relugolix, Linzagolix) represent a new alternative for the medical management of hormone-dependent gynaecological diseases such as uterine fibroids or endometriosis. They rapidly bind to the GnRH receptor, block endogenous GnRH activity and directly suppress LH and FSH production, avoiding unwanted flare-up effects. Some GnRH antagonists are marketed in combination with hormone replacement therapy add-back to counteract hypo-oestrogenic side effects. According to the registration trials, once-daily GhRH antagonist combination therapy results in a significant reduction in menstrual bleeding, as compared with placebo, and preserves bone mineral density, for up to 104 weeks. Further studies in the long term are needed to evaluate the whole impact of medical treatment of uterine fibroids on the management of this common women's disease.
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Anorectal avulsion is an exceptional rectal trauma. In this kind of lesions, the anus and the sphincter no longer join the perineum and are pulled upward. We present a case of 34-years-old patient who was admitted because of a pelvic-perineal trauma, presenting a partial anorectal avulsion, exposed femoral fracture with thigh's lacerated-contused wound. Our treatment included primary plastic of the internal anal sphincter with replanting of the rectum on the anal canal and a diverting loop sigmoid colostomy (SCS), so as to prevent sepsis. Closure of the protective SCS was performed four months after the trauma.
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Canal Anal/lesiones , Canal Anal/cirugía , Malformaciones Anorrectales/cirugía , Perineo/fisiopatología , Recto/lesiones , Recto/cirugía , Enfermedades del Sigmoide/cirugía , Adulto , Malformaciones Anorrectales/diagnóstico , Colostomía/métodos , Humanos , Masculino , Ciudad de Roma , Resultado del TratamientoRESUMEN
BACKGROUND: Sigmoid volvulus is an uncommon cause of intestinal obstruction representing the 5% of all Western cases, associated with old age and a history of neurological and psychiatric condition. Generally, its diagnosis is established by clinical and radiologic findings. It often represents an emergency and it is commonly associated with pain, vomit and abdominal tenderness. CASE PRESENTATION: We present a case of a 59 years old man, admitted to our emergency department, showing an abdominal X-Ray reporting a distention of large bowel,which was required due to presence of multiple diarrhea episodes during the previous 7 days. He had no significant past medical history and did not report constipation or subocclusive episode. CONCLUSIONS: Volvulus should be considered in the differential diagnosis in adult and healthy patients with bowel obstructions. Surgery is, in all cases, the radical and definitive treatment since there is a higher mortality in case of recurrent volvulus. Despite the massive bowel distention, our choice was the elective open surgery. Primary anastomosis is feasible and safe and did not lead to any complications. In case of unsuccessful colonic decompression, evidence to support or refute the safety and effectiveness of laparoscopic surgical resection for treatment of patients with sigmoid volvulus disease is not yet proven.
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Obstrucción Intestinal/diagnóstico , Vólvulo Intestinal/diagnóstico , Enfermedades del Sigmoide/diagnóstico , Dolor Abdominal/etiología , Descompresión Quirúrgica , Diagnóstico Diferencial , Procedimientos Quirúrgicos Electivos , Servicio de Urgencia en Hospital , Humanos , Obstrucción Intestinal/etiología , Obstrucción Intestinal/cirugía , Vólvulo Intestinal/cirugía , Laparoscopía , Masculino , Persona de Mediana Edad , Enfermedades del Sigmoide/cirugíaRESUMEN
Unsuspected microscopic adenocarcinoma (T1) of the gallbladder was identified after surgery in two patients who underwent urgent open cholecystectomy for acute cholecystitis. In spite of the tumor being at an early stage both patients died after few months for local and disseminated tumor recurrence. The influence of the associated inflammatory disease of the gallbladder on the outcome of patients with inapparent gallbladder carcinoma is discussed and a more aggressive surgical strategy is suggested.
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Adenocarcinoma/cirugía , Colecistitis/cirugía , Neoplasias de la Vesícula Biliar/cirugía , Enfermedad Aguda , Anciano , Colecistectomía , Femenino , Humanos , Persona de Mediana EdadRESUMEN
We report the fifth case of neoplastic involvement of the infrahepatic portion of the inferior vena cava, observed in a young woman affected by a left adrenal cortical carcinoma. The intracaval extension of a neoplastic thrombus from an adrenal tumor is a rare complication that should not be considered a dismal prognostic factor and does not contraindicate tumor resection with curative intent. Caval invasion must be preoperatively investigated to plan the correct surgical access and avoid the risk of neoplastic embolization.
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Neoplasias de la Corteza Suprarrenal/patología , Neoplasias Vasculares/secundario , Vena Cava Inferior , Adulto , Resultado Fatal , Femenino , Humanos , Invasividad Neoplásica , Venas RenalesRESUMEN
BACKGROUND: Round-tipped blunt needle (BN) may decrease the risk of needlestick injuries and hand contamination. We prospectively determined the incidence of glove perforations in emergency abdominal procedures and the efficacy of BN in increasing the safety for surgeons. METHODS: Two hundred patients were randomized to undergo closure of the abdominal fascia using sharp needle (SN) or BN. Gloves were tested at the end of the procedure. RESULTS: Surgeons had 14 needlestick injuries and 76 perforations recorded in 69 pair of gloves. Sharp needles were responsible for all injuries and 58 (76%) perforations (P < 0.00004 and P < 0.00001, respectively). This difference was still higher when considering the perforations related to the abdominal fascia closure (BN 7% versus SN 50%; P < 0.0006). CONCLUSION: The risk of glove perforation is sevenfold greater if SN are used. Blunt needles reduce sharp injuries and improve safety for surgeons.
Asunto(s)
Accidentes de Trabajo/prevención & control , Accidentes de Trabajo/estadística & datos numéricos , Cirugía General , Guantes Quirúrgicos , Traumatismos de la Mano/epidemiología , Traumatismos de la Mano/prevención & control , Agujas , Lesiones por Pinchazo de Aguja/epidemiología , Lesiones por Pinchazo de Aguja/prevención & control , Contaminación de Equipos/estadística & datos numéricos , Diseño de Equipo , Humanos , Incidencia , Estudios ProspectivosRESUMEN
The autotransplant of the left lobe of the pancreas in the latero-cervical region has been successfully performed in 38 adult beagles with a mean cold ischemia time of 52 minutes. Juice volume and amylase, protein and bicarbonate outputs were resumed postoperatively as soon as 6 hours. A single case of thrombosis of the mesenteric vein occurred; all other pancreatic grafts showed good histological vitality at 30 days. This procedure of autografting is proposed as a valid experimental model for the pathophysiologic study of acute pancreatitis.
Asunto(s)
Trasplante de Páncreas , Trasplante Autólogo , Enfermedad Aguda , Animales , Modelos Animales de Enfermedad , Perros , Humanos , Trasplante de Páncreas/métodos , Pancreatitis/cirugíaRESUMEN
Ascaris Lumbricoides is the most common worm found in human beings and it is the largest of the intestinal nematodes parasitizing humanity. The most common complication of Ascariasis is mechanical bowel obstruction caused by a large number of worms. Bowel obstruction can also be caused by various toxins released by the worms. A large worm bolus can also cause volvulus or intussusception. We report a case of Intestinal Obstruction due to an Ileal MZBCL in an Ascaris. Lumbricoides infestation setting.