38 research outputs found
Trattato di Lisbona e diritti fondamentali: nuove prospettive con riferimento alla Carta di Nizza ed al rapporto tra Unione Europea e CEDU
No full textThe author analyses some important aspects of the impact that the Lisbon Treaty can have in the system of the community tutelage of fundamental rights. In particular the author deals whith the central core of those provisions of the law which concern the complicated theme relating to the juridical value of the Charter of Fundamental Rights of the European Union and the relationship between European Union and European Convention for the Protection of Human Rights and fundamental Freedoms. The n.1 article of Lisbon Treaty gives the Charter of Fundamental Rights EU the same juridical value of the treaties. So the author wants to clarify the impasse that this article will determine on the role taken by the Court of justice to protect the fundamental juridcal situations. Nevertheless if from one side there is the possibibility of an enlargement of protection (recognition of civil and political rights and economical,social and cultural ones), on the other side, some ambiguities appear (as for example, among the light and shade effects of the Treaty, the right of opting out given to some States members).Concerning the new n.6 article TEU, the author analyses the relationship between the Court of justice and the European Court of Human Rigths, highlighting that there are the conditions that give the two Courts the chance to act with synergy; even if some difficulties persist in order to harmonize the two systems of tutelage
Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer
No full textEarly-onset or hereditary ovarian cancer is mostly associated with BRCA1 or BRCA2 mutations. Mismatch repair genes sequence alteration frequently cause colorectal cancer, and, in less extent, other tumors, such as ovarian cancer. Subjects with personal and/or family history suggestive for hereditary cancer should be addressed to cancer genetic counseling. The multistep Cancer Genetic Counseling model, adopted at our unit, is aimed to identification, definition and management of hereditary cancer syndrome, by a multidisciplinary approach. A woman with a very early onset epithelial ovarian cancer underwent to cancer genetic counseling and genetic testing. Two germ-line mutations have been identified in exon 11 of MSH2 gene: c.1706A>T (p.Glu569Val) and c.1711G>T (p.Glu571*). Both DNA alterations were novel mutations not yet described in literature. The first is a missense mutation that is to be considered an unclassified variant; the second is nonsense mutation that created a premature stop codon resulting in a truncated not functioning protein. In conclusion, the present report finds out two unpublished sequence alterations in exon 11 of the MSH2 gene, one on which can be considered causative of Lynch phenotype, and stresses the importance of the onco-genetic counselling in order to offer the most appropriate management of the cancer risk for the patients and her family members
Malignant melanoma Clustering with some familial/hereditary tumors
No full textGermline mutations of the CDKN2 and CDK4 genes that are involved in the cell cycle regulation, have been associated with malignant melanoma (MM). However, these mutations have been detected only in some cases of familial MM, particularly in Sweden and in Italy, which suggests that other genes are involved in the pathogenesis of hereditary MM. Few data are available about the clustering between MM and familial or hereditary tumours (e.g. breast cancer, ovarian cancer, colon cancer, pancreatic cancer). In this respect, the Breast Cancer Linkage Consortium reported that carriers of germline mutations in the BRCA2 predisposing gene have a significantly increased risk for MM (RR = 2.58; 95% CI = 1.28-5.17). The aim of the present study was to determine the family history of 342 consecutive cases of MM observed from 1994 to date. Specifically, we looked for: MM associated with other malignant neoplasias; familial clustering of MM; and a family history of cancer. Malignant melanoma was associated with other tumours in 20/342 patients (5.84%); a history of MM was associated to a positive family history of cancer in 31/342 cases (9.06%); and familial clustering of MM was detected in 22/342 (6.4%) of the consecutive series of patients analysed. The pedigree of patient who have a family history of MM or other cancers is being constructed
Management of patients with BRCA1/2-associated breast cancer
No full textBRCA1/2-related breast cancers (BC) can be considered a separate entity compared to sporadic ones. Current
knowledge suggests that the overall management is different. Herein, the different topics of management
of BRCA1/2-associated BC are considered including cancer genetic counseling, surveillance, chemoprevention,
prophylactic surgery, oncological treatment and psychosocial aspects. Cancer genetic counseling is a specific
modality for the management of at-risk subjects that foresees a multidisciplinary approach and patientsfocused
interventions. An integrated multidisciplinary approach in cancer genetic counseling (CGC) is required
to support women with high inherited risk of developing hereditary cancers in the complex decisions related
to cancer risk management choice. Surveillance for at-risk body sites should be integrated to the conventional
oncological follow-up of BC patients and offered to the healthy family members. Chemoprevention and
prophylactic surgery are viable options of cancer risk management. Particularly, prophylactic surgery can be
considered an effective strategy for BRCA1/2 mutation carriers, because of a significant reduction of BC and
ovarian cancer risk. Promising findings concern specific oncological treatment, including also target therapies
in this setting. It is necessary that during CGC process the subject at-risk takes an active role, facilitated by a
personalized approach and a focus on the patient’s emotional state. A patient-centered approach by a biopsychosocial
perspective is needed for the taking charge of at-risk women
Procesos de autonomia normativa entre perfiles de indipendencia e interdependencia funcional
No full textThe author says that to get rules technique and the certainty of the law together is quite a postulate. The certainty of rules is the expression of impartiality and guarantee which should be assured by the "fixity" of the law.Neverthless one can point out the insufficinet reconnaissance of the rules seen as pure written record, that is the "liturgic text" to individuate the real content of the law. The author gives variegated exemplifications about it. Viceversa the rule exists because it is "alive", and in it is its effective vitality. So it exists in the semantics and in the jurisdictional control and in its applicability. After all, the matter of law is a matter of fact. The specific fact is considered as an action which weighs in political society: for this reason it is a "fact which becomes law". This rule (which suggests us the empirical experience with its historical background) is the only thing that gives us the final result of the judgement aspect and for this reason it is the final result of the organizing action of politics. Therefore, very aften the architecture of the hierarchy of sources is unsteady. We assist at what the classfiers accuse: a levelling, an overturning, an integration of sources of different grade or quite an "extra ordinem". All this is the consequence of the interface law of politics. If, from one side it can be considered as an element of disorder, from another side it is it which puts en order and consolidate the unique law from which one cannot avarial necessarily to consider:the "state law", the only one which everybody refers to (if, for example, we want to refer to communities rules, or to the lex mercatoria this involves our referring to the state law which guarantees the concrete execution). It has also been paied attention to the autonomy of the processes of the rules technique which represent theoretical models. They are well built and substain the unique government action; they objectify, by the independence of the technique, the "Sollen" of the rule (from its drawing up to its becoming concrete). It has also benn considered as from the rules technique a process of erosion has come envolving the autonomy of the Regions. The emphatised profiles of indipendence of the Regions are solved in attributions of competences "functional" and "interdependent" to the given system wanted by the unique, real resultant, juridical character: the state institution co-ordinates competences and joins the functions together to the juridical exclusivity that means:the constitutional production and the juridical control
El Tratado de Lisboa:¿ un cambio sustancial en el proceso de integración europea en materia de derechos fundamentales?
No full textThe essay - examining some of the most remarkable effects that Lisbon Treaty produces (and will produce) in the process of progressive recognition and community guardianship of fundamental rights - stresses those dispositions of the new European Treaty concerning two themes: the juridical value of the Charter of Fundamental Rights of the European Union and the relationships between EU and ECHR. Under this aspects, actually it would seem that there has been a decisive turning-point in the process of community political integration, even if some important knots remain still unsolved. The new art.6 TEU attributes the same juridical value of the treaties to the Charter oh Nice. This clearly involves remarkable positive consequences in subject of community protection of human rights; so for instance: the Charter becomes a real parameter of judgment of the community judge, and moreover there is a real widening of the guardianship (recognition, together, of civil and political rights and economic and social rights).Equally however - beyond the impasse that the existence of a Charter of the rights (legally binding) will determine on the role assumed by the Court of justice in the protection iure pretorio of the subjective fundamental juridical situations - there are, in the new Treaty, some shadow areas (for instance, the absence, among the dispositions on the founding Treaties, of a textual reference to the Charter of the rights EU; the right of opting out of States members) that would seems to hide the fear (from States) to recognize apertis verbis the protection of fundamental rights as qualifying element of the ontological essence of the same Union. All of this, as demonstration of the difficulty to reach a complete community integration. And besides, the circumstance for which the Charter of Nice constitutes, nowadays,community right in force sets complexes interpretative problems in the hypothesis of antinomy between national italian law and a disposition of the Charter (with direct effect) having the same content of a disposition of the ECHR. Always with reference to the new art.6 TEU (which sets the bases for the definitive adhesion of the Union to the ECHR), the author - analyzing the relationships between the Court of justice and the Court of Strasbourg - underlines as the conditions subsist for giving, to the two European Courts, the chance to act in synergy; so that to raise the level of protection cross-area of the fundamental rights inside an integrated and multi-level system of guardianship. At the same time, however, it must be noticed that - existing the difficulty to harmonize, between them, the decisions (sometimes conflicting) of the European judges (in consideration, also, of the absence, in subject of fundamental rights, of competences precisely circumscribed), and to coordinate them with the action of the national constitutional Courts - a real collaboration between the two European Courts is not an easy goal to reach. Anyway, it must be said however that, in subiecta materia, the perspective of the "difference" could constitute a "positive aspect". The dialectical comparison between different jurisprudential orientations, in fact, could allow to trace with greater precision the limits and the rules, with the purpose to assure a more real guardianship of the fundamental rights
Pretreatment Serum Concentration of Vitamin D and Breast Cancer Characteristics: A Prospective Observational Mediterranean Study
No full textBACKGROUND:
Recent studies of the correlation between breast cancer (BC) and vitamin D yielded contrasting results. Although preclinical and clinical evidence has implicated vitamin D in BC prevention and outcome, little is known about the link between vitamin D and specific BC histologically defined subtypes. In the attempt to clarify this association we correlated vitamin D levels with BC characteristics.
PATIENTS AND METHODS:
We enrolled 220 pre- and postmenopausal women with early BC in this prospective observational trial. Data on the patients' clinical and specific BC pathological characteristics were collected and related to vitamin D levels, stratified in deficient ( 30 ng/mL). BC subtypes were defined according to the 14th St Gallen Breast Cancer Conference.
RESULTS:
Deficient vitamin D levels were correlated with Grade 3 (P = .015) and node-positive (P = .043) BC, and with a higher body mass index (P = .017). Insufficient vitamin D levels were associated with estrogen receptor expression in the primary tumor (P = .033). Vitamin D levels were unrelated to the histological molecular subtypes of BC.
CONCLUSION:
Deficient vitamin D levels were correlated with more aggressive disease, namely, node-positive high grade BC, and with obesity. Should our findings be confirmed in larger prospective studies, nutritional programs designed to reduce body weight, and vitamin D supplementation might be considered a BC prevention strategy
Long-term survival and BRCA status in male breast cancer: A retrospective single-center analysis
No full textRetrospective Analysis of Familial Clustering for Malignant Melanoma
No full textBackground: Malignant Melanoma (MM) is familial in 5-7% of cases. Germline mutations of the CDKN2 and CDK4 genes are involved in the pathogenesis of hereditary MM, but the high frequency of familial clustering suggests other genes involved. MM seems to cluster with hereditary syndrome such as Hereditary Breast/Ovarian Cancer (HBOC). In this respect, some authors reported that carriers of BRCA 2 germline mutations have a significantly increased risk for MM (RR: 2.58).
Aims: We investigate family history of MM patients to define the familial clustering for MM and history for othe tumours.
Methods: We retrospectively analysed family of 342 consecutive MM cases referred from 1994 to 2002 to the “Gruppo Melanoma”, Azienda Universitaria Policlinico, University “Federico II” of Naples. We divided the cases into four subsets: 1) multiple MM; 2) MM aggregated with other tumours in the proband; 3) MM with a family history of MM; and 4) MM with a family history of other tumours. We collected the pedigree, after informed consent, in all cases with a family history of MM or other tumours.
Results: data analysis showed: multiple MM in 5/342 cases (1.46%); MM aggregated with other tumours in the proband in 10/342 cases (2.9%); MM with a family history of MM in 13/342 cases (3.8%) and MM with a family history of other tumours in 28/342 cases (8.2%). We propose pedigree construction to 41 subjects: we collected 23 pedigrees, 14 pedigree are ongoing, while 4 cases refused their consent.
Conclusion: Patient affected by Malignant Melanoma seems to be at increased risk to develop other tumours and healthy individuals belonging to families with a high clustering for malignant melanoma and other tumours could be at risk for cancers
