Search results for "eredità"
showing 10 items of 30 documents
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
2020
Purpose: To survey risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) practice and advice regarding hormone replacement therapy (HRT) in women with Lynch syndrome. Methods: We conducted a survey in 31 contributing centers from the Prospective Lynch Syndrome Database (PLSD), which incorporates 18 countries worldwide. The survey covered local policies for risk-reducing hysterectomy and BSO in Lynch syndrome, the timing when these measures are offered, the involvement of stakeholders and advice regarding HRT. Results: Risk-reducing hysterectomy and BSO are offered to path_MLH1 and path_MSH2 carriers in 20/21 (95%) contributing centers, to path_MSH6 carriers in 19/21 (91%) and…
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Data…
2021
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic …
REIMAR. Registro delle identità della pesca mediterranea e dei borghi marinari
2023
Nell’arcaico, tensionale e contraddittorio rapporto tra le comunità e il mare, i saperi tecnici finalizzati allo sfruttamento delle risorse si intrecciano inestricabilmente con specifiche concezioni del mondo e della natura. Così, alla dimensione materiale relativa alla produzione degli strumenti artigianali funzionali alla pesca, si affianca un complesso e vasto orizzonte di rappresentazioni ideologiche e di pratiche simboliche che in Sicilia sono ancora vitali nonostante le profonde trasformazioni socioeconomiche. Il Registro delle Identità della Pesca Mediterranea e dei Borghi Marinari è stato istituito dal Dipartimento della Pesca Mediterranea della Regione Siciliana per salvaguardare e…
La "successione digitale"
2018
The article tackles the issue of digital contents’ regulation after the death of their owner, starting from the scope and content of «digital succession». It continues with the task of determining the regulatory framework concerning the devolution of both economic assets and personal or family memories stored on the Internet, under Italian Law of Succession and EU Regulation n. 650/2012 on European Certificate of Succession. Once considered the US «Revised Uniform Fiduciary Access to Digital Assets Act», the contribution also debates the development of new digital instruments and records, other than will and testament, formed by using online tools (such as Facebook «Legacy Contact»). In the…
Agere 'ex asse in solidum' e agere 'pro parte in solidum'. Per un'interpretazione di Venul. 7 stip. D. 10, 2, 7
2020
The paper proposes a revised analysis of D. 10.2.7 (Venul. 7 stip.), from which it seems reasonable to suggest that Venuleius discussed a particular kind of co-inheritance: the coniunctim attribution of a hereditas or an inheritance quota regarding two heirs. The substantially classical text, which can be glimpsed therein, offers evidence of the coexistence of different patterns of co-inheritance in classical private Roman law.
Fragile X-syndrome: literature review and report of two cases
2009
Fragile X-syndrome is caused by a mutation in chromosome X. It is one of the most frequent causes of learning disability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacial morphological alterations and an increase in testicle size. The disease is associated with cardiac malformations, joint hyperextension and behavioural alterations. We present two male patients aged 17 and 10 years, treated in our Service due to severe gingivitis. Both showed the typical facial and dental characteristics of the syndrome. In addition, we detected the presence of root anomalies such as taurodontism and root bifurcation, which had not been associated with frag…
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Sy…
2021
Abstract Purpose To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR ( path_MMR ) variants. Methods The Prospective Lynch Syndrome Database was used to investigate the effects of gynecological risk-reducing surgery (RRS) at different ages. Results Risk-reducing hysterectomy at 25 years of age prevents endometrial cancer before 50 years in 15%, 18%, 13%, and 0% of path_MLH1 , path_MSH2 , path_MSH6 , and path_PMS2 heterozygotes and death in 2%, 2%, 1%, and 0%, respectively. Risk-reducing BSO at 25 years of age prevents ovarian cancer before 50 years in 6%, 11%, 2%, and 0% and…
Qualche riflessione sulle mostre archeologiche degli ultimi anni in Italia
2009
Caratteristiche, finalità, aspetti positivi e meno positivi delle mostre archeologiche allestite negli ultimi anni in Italia, con particolare riguardo a quelle incentrate sul mondo classico.
Stenosis coexists with compromised α1-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome
2020
Williams-Beuren syndrome (WBS) is a rare disorder caused by a heterozygous deletion of 26-28 contiguous genes that affects the brain and cardiovascular system. Here, we investigated whether WBS affects aortic structure and function in the complete deletion (CD) mouse model harbouring the most common deletion found in WBS patients. Thoracic aortas from 3-4 months-old male CD mice and wild-type littermates were mounted in wire myographs or were processed for histomorphometrical analysis. Nitric oxide synthase (NOS) isoforms and oxidative stress levels were assessed. Ascending aortas from young adult CD mice showed moderate (50%) luminal stenosis, whereas endothelial function and oxidative str…
Pycnodysostosis. A report of 3 clinical cases
2008
Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed at an early age. However, the diagnosis is sometimes late, made as a result of bone fracture, given the severe bone fragility resulting from increased bone density. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, the nose beaked, the mandibular angle obtuse, and both maxilla and mandible hypoplastic. Dental abnormalities and impaction are observed, as well as alterations in eruption and frequent dental crowding. The differential diagnosis is established with osteopetrosis, cleidocranial dysplasia and idiopathic…