1,721,018 research outputs found
Genetic counselling for cancer disease in the era of personal genomics
No full textBackground:
Hereditary cancer syndromes (HCS) account for nearly 10% of cancers, although they are often underdiagnosed. The rapid development of genetic technologies and the use of genetic information in clinical decision-making require increased involvement of surgeons, oncologists and other health professionals in appropriate referral of patients to genetic services for genetic counselling and testing.
Genetic testing and counselling for HCS can improve outcomes for patients and their at-risk relatives by informing cancer surveillance, prevention, screening strategies and treatment, as well as reproductive decision-making.
Aims:
The studies published in Pubmed in the last 5 years identifiable through the keywords: "Genetic Counselling" AND "Hereditary Cancer" were examined with the aim of verifying the perception of health professionals, patients and family members at risk regarding the usefulness of genetic counseling in the oncogenetic field and to recover models/protocols that are easy to apply on a large scale by non-geneticists as first screening
Results:
The 53 records found contain useful suggestions for the identification of specific hereditary cancer syndromes. Two papers propose a specific questionnaire to assess familial risk by direct administration to patients. These data, together with the knowledge and concerns of health professionals, are proposed for discussion.
Conclusions:
The limited data available in the literature on how to raise awareness among patients, family members at risk, and health professionals of the need to detect genetically determined cancers underscores the need to develop intervention models to be tested in individual territories, "tailored" to the demographic, cultural, and epidemiological characteristics of those territories
Interaction of tissue type plasminogen activator with fibronectin and fibronectin fragments
No full text"Degradation of human plasma and extracellular matrix fibronectin by tissue type plasminogen activator and urokinase"
No full text
Induction of fibronectin mRNA by urokinase- and tissue-type plasminogen activator in human skin fibroblasts: differential role of u-PA and t-PA at FN protein level
No full textFSH receptor polymorphisms in a population of infertile women and controls
No full textOBJECTIVE: Two single nucleotide polymorphisms at position 680 and 307 of the FSH receptor gene have been associated with infertility and ovar- ian response in IVF. The aim of this study was to examine the frequency dis- tribution of FSH receptor polymorphisms in infertile patients and controls and to correlate these polymorphisms with the outcome of IVF cycle.
DESIGN: Case-control study.
MATERIALS AND METHODS: 86 IVF infertile patients undergoing ovarian stimulation in a long suppression protocol and 60 fertile controls were included in the study. Fertile patients included were enrolled among women who delivered and had no history of infertility. Blood samples were obtained and DNA was analyzed to determine the FSH receptor geno- type. Among IVF cycle: basal FSH levels, number of antral follicles, number of preovulatory follicles (>15mm), number of retrieved oocytes, duration of stimulation (days), number of transfer embryo, pregnancy rate and amount of FSH were assessed and correlated with genotypes.
RESULTS: No statistically significant differences in the distribution of polymorphisms were found among the group of infertile women and controls. Basal FSH levels, number of antral follicles, number of preovulatory follicles (>15mm), number of retrieved oocytes and number of transfered embryos was comparable between infertile patients with different FSH receptor geno- type. However, patients who carry TT (thr-thr) and NN (asn-asn) genotype need fewer days of ovarian stimulation to oocyte retrieval. (TT: 9,07 days, p1⁄40,028; NN: 9,08 days, p1⁄40,037). A trend of better pregnancy rate in the AA genotype carrying patients was found, although not statistically signifi- cant. The dose of FSH required for a successful stimulation was similar in the two polymorphisms.
CONCLUSIONS: FSH receptor genotype is not different between infertile and fertile patients. TT and NN genotype acchieve a significantly higher ovarian response. There is a not significant trend for better pregnancy rate in AA subgroup patients. Our results seem to support some role of FSH re- ceptor polymorphism in infertile patients: the clinical relevance of this factor is however probably low
Analysis of fibronectin, plasminogen activators and plasminogen/plasmin in tear fluid as markers of corneal damage and repair
No full textCorneal damage of various origins initiates a series of processes which lead to repair but also tend to perpetuate the damage; healing thus depends on the prevalence of repair over progression processes. The plasminogen/plasmin system has an important impact on this process, particularly by degrading the extracellular matrix components with resulting interference of the repair processes. This paper presents the immunoblotting analysis of fibronectin, tissue and urokinase-type plasminogen activators and plasminogen/plasmin in the tear fluid of control subjects and patients affected by various ocular pathologies (corneal ulcers, thermal or chemical burns, herpetic keratitis). A significant modification was noted in the protein profiles of fibronectin, tissue and urokinase-type plasminogen activators and plasminogen/plasmin in the cases of corneal ulcers and thermal or chemical burns relative to the pattern observed in the control subjects, while in cases of herpetic keratitis, only plasminogen/plasmin showed slight variations. The altered protein patterns gradually normalized during therapeutic treatment and, at remission, coincided with those of the control subjects
CFTR mutation in an Arab patient: clinical and functional features of 875+1G-->A/875+1G-->A genotype
No full textPlasminogen activators, plasminogen and fibronectin fragments as markers of cornea tissue damage and repair
No full text- …
