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Aims: The nutritional management of renal transplant recipients (RTR) represents a complex problem either because the recovery of renal function is not complete and for the appearance of "unavoidable" metabolic side effects of immunosuppressive drugs. Nevertheless, it remains a neglected problem, whereas an appropriate dietary intervention could favorably affect graft survival., Data Synthesis: Renal transplantation is associated with steroids and calcineurin inhibitors administration, liberalization of diet after dialysis restrictions, and patients' better quality of life. These factors predispose, from the first months after surgery, to body weight gain, enhanced post transplant diabetes, hyperlipidemia, metabolic syndrome, with negative consequences on graft outcome. Unfortunately, specific guidelines about this topic and nutritional counseling are scarce; moreover, beyond the low adherence of patients to any dietary plan, there is a dangerous underestimation of the problem by physicians, sometimes with inadequate interventions. A prompt and specific nutritional management of RTR can help prevent or minimize these metabolic alterations, mostly when associated with careful and repeated counseling., Conclusions: A correct nutritional management, possibly tailored to enhance patients' motivation and adherence, represents the best preventive maneuver to increase patients' life and probably improve graft survival, at no cost and with no side effects., (Copyright © 2019 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.)

Background: Although most BRCA sequence variants are clearly deleterious and unequivocally pathogenetic, several are still classified as variants of unknown significance., Patients and Methods: We followed families undergoing oncogenetic counseling from risk identification to risk definition by genetic testing and risk management., Results: We identified two germline mutations in the BRCA2 gene in a woman with breast and ovarian cancer. One sequence alteration was 859/G>A in exon 7 (V211I). The other second sequence alteration (IVS13-2A>T) affected the splicing site in intron 13. The latter alteration is not yet listed in the Breast Cancer Information Core database. RT-PCR resulted in transcription of a sequence lacking exon 7 and a subsequent anomalous stop codon in exon 9 thereby confirming altered messenger RNA (mRNA) maturation. Amplification of the mutation in intron 13 resulted in transcription of a sequence lacking exon 14 and an anomalous stop codon in exon 15 thereby confirming altered mRNA maturation. Both mutations led to a truncated BRCA2 protein in its carboxy-terminal region., Conclusion: The two BRCA2 mutations identified affect mRNA splicing fidelity and play a pathogenetic role in breast and ovarian cancer.

Background: We describe a multistep model of cancer genetic counselling designed to promote awareness, and disease surveillance and preventive measures for hereditary and familial breast and ovarian cancer., Patients and Methods: Step T0 of the model entails information giving; this is followed by pedigree analysis and risk estimation (T1), risk communication and genetic testing (T2), and genetic test result communication (T3). User consent was required to proceed from one step to the next. Surveillance and preventive measures are proposed to at-risk users. Of the 311 subjects who requested cancer genetic counselling, consent data to each counselling step were available for 295: 93 were disease-free, 187 had breast cancer, 12 had ovarian cancer and three had breast plus ovarian cancer., Results: Consent was high at T0 (98.39%), T1 (96.40%) and T2 (99.65%). Consent decreased at the crucial points of counselling: T2 (87.71%) and T3 [genetic test result communication (85.08%), and extension of counselling to and testing of relatives (65.36%)]., Conclusions: The model fosters the user's knowledge about cancer and favours identification of at-risk subjects. Furthermore, by promoting awareness about genetic testing and surveillance measures, the algorithm enables users to make a fully informed choice of action in case of predisposing or familial cancer risk.