Dissecting the heritable risk of breast cancer:From statistical methods to susceptibility genes

Decades of research have shown that rare highly penetrant mutations can promote tumorigenesis, but it is still unclear whether variants observed at high-frequency in the broader population could modulate the risk of developing cancer. Genome-wide Association Studies (GWAS) have generated a wealth of data linking single nucleotide polymorphisms (SNPs) to increased cancer risk, but the effect of these mutations are usually subtle, leaving most of cancer heritability unexplained. Understanding the role of high-frequency mutations in cancer can provide new intervention points for early diagnostics, patient stratification and treatment in malignancies with high prevalence, such as breast cancer. Here we review state-of-the-art methods to study cancer heritability using GWAS data and provide an updated map of breast cancer susceptibility loci at the SNP and gene level

Tra territorio e città

By summarising some selected bachelor and master's degree theses, the volume offers an overview of the study activities conducted within the Degree courses in Planning of the University of Florence, Empoli Campus. The different sections constituting the work highlight a multi-scale and multidisciplinary work methodology, which feeds on an approach mainly based on the importance given to the value of places and of specific territorial contexts. The result is an original picture of contributions, representing a potentially innovative way for the comparison of territorial and urban studies with the various operational dilemmas which arise at the intersection between the drafting of policies, the construction of long-lasting territorial projects and the local development guidelines

Distal radius fractures: treatment using the Epibloc system.

Summary The Epibloc™ system of percutaneous endomedullary internal fixation is best indicated for AO type A2-3 extra-articular fractures of the distal radius and AO type C1 slightly comminuted articular fractures. This system includes pins that can be inserted into the medullary canal and advanced without breaking through the second cortex. This fixation is stabilised by an external plate and rendered dynamic by the pins' elasticity which compresses the fractured surfaces. Moreover, this system results in transversal ligamentotaxis which helps prevent secondary reduction losses. The result of a preliminary series of 326 cases is evaluated

Travel Time in Case of Accident Prediction Model

AbstractThe aim of this paper is to estimate the travel time along a motorway section, both in undisturbed condition and taking into account a perturbation due to an accident. The estimated travel time is calculated adding the travel time under normal traffic conditions, the time used settling the accident area and the time needed to dissolve the queue. To be applied the model requires the knowledge of accident characteristics, the traffic flow at the accident time and the value of the reduced capacity during the accident management. The model refers to traffic conditions and accident management procedures typical of motorways

Uterine Sarcomas: An Updated Overview. Part 1: Smooth Muscle Tumors

Uterine sarcomas (USs) account for 3–9% of uterine malignant neoplasia and about 5% of all gynaecologic malignancies. Despite their low prevalence, these tumors stimulate a great interest because of their aggressiveness, poor prognosis and high mortality rate. According to the last World Health Organization (WHO) classification and the International Federation of Gynecology and Obstetrics Committee (FIGO) staging, USs are categorized as pure mesenchymal tumors (endometrial stromal sarcoma, leiomyosarcoma and undifferentiated uterine), and mixed tumors (carcinosarcoma and adenosarcoma). Due to their non-specific signs and symptoms, USs are commonly diagnosed in advanced stage, more often after surgery for a suspected leiomyoma. Although surgery followed by adjuvant therapies represent the common choices for USs, they show poor efficacy due to the early occurrence of metastasis, and the high resistance of tumors to radio-and chemotherapy. Presently, specific expression profiles and new cytotoxic agents are under investigation. In these reviews, we summarized clinical and pathological features, imaging characteristics, therapeutic approaches, genomic and molecular aberration associated with smooth muscle neoplasia (Part 1) and endometrial stromal neoplasia (Part 2); the goal is to understand the biology and the molecular signature of these tumors, in order to focus on their best management

Uterine Sarcomas: An Updated Overview Part 2: Endometrial Stromal Tumor

Uterine sarcomas (USs) account for 3–9% of uterine malignant neoplasia and about 5% of all gynaecologic malignancies. Despite their low prevalence, these tumors stimulate a great interest because of their aggressiveness, poor prognosis and high mortality rate. According to the last world health organization (WHO) classification and the International Federation of gynecology and obstetrics committee (FIGO) staging, USs are categorized as pure mesenchymal tumors (endometrial stromal sarcoma, leiomyosarcoma and undifferentiated uterine) and mixed tumors (carcinosarcoma and adenosarcoma). Due to their non-specific signs and symptoms, USs are commonly diagnosed in advanced stage, more often after surgery for a suspected leiomyoma. Although surgery followed by adjuvant therapies represent the common choices for USs, they show poor efficacy due to the early occurrence of metastasis, and the high resistance of tumors to radio-and chemotherapy. Presently, specific expression profiles and new cytotoxic agents are under investigation. In these reviews, we summarized clinical and pathological features, imaging characteristics, therapeutic approaches, genomic and molecular aberration associated with smooth muscle neoplasia (Part 1) and endometrial stromal neoplasia (Part 2); the goal is to understand the biology and the molecular signature of these tumors, in order to focus on their best management

Fertility sparing treatment for bilateral borderline ovarian tumor. A case report and management strategy explication

A bilateral adnexal mass with suspected carcinosis could be a challenging experience for the gynecologist especially in fertile age and in patients with a desire for pregnancy. A 26-year-old patient who came to the outpatient clinical observation for bilateral, multilocular pelvic masses, with more than 4 papillary structures, color score 2, hypomobile compared to the uterus and rectum, respectively of 65 and 68mm in maximum diameter, free liquid in the abdomen and suspected for ovarian neoplasm. Positive tumor markers and a strong desire of a Fertility Sparing Treatment (FST). A 2-steps surgical approach managed to perform a diagnosis of bilateral ovarian borderline tumor with implants and a fertility sparing surgery. Harvesting and cryopreserving oocytes prior to the cytoreductive intervention was successfully performed