Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort.

In the last decade, the number of children and youth with special health care needs (CYSHCN) is increased as a result of the improvement of neonatal and pediatric assistance. The aim of our study was to describe the burden of care of the families caring a CYSHCN in our country, evaluating their living condition in order to explore socio-economic characteristics, health problems, needs and their adaptation processes trying to reach a balance between the needs of the disabled child and those of the other family members. We administered a questionnaire to the parents of CYSHCN during a routine clinical evaluation. From the analyses of questionnaires obtained, parents were the main caregiver of the children and 43,8% of them reported that they were not getting enough support. Burden of care fell on parents and indeed compilers reported an average level of stress of 3,2 (0-5) and more important, the main reported sources of stress were the concern about the future and health of their children. From the analyses of our population emerged unsatisfied needs of these families and their necessity to be effectively supported and integrated into the social fabric of the community. Social supporting is essential to help managing family stress and is evident the needed of these parents for interventions to directly target caregiver needs through the provision of tailored services, such as respite care opportunity, peer support, financial aid and medical home technologies to improve their quality of life.

Gender Differences and Unfairness Processing during Economic and Moral Decision-Making: A fNIRS Study.

Decisional conflicts have been investigated with social decision-making tasks, which represent good models to elicit social and emotional dynamics, including fairness perception. To explore these issues, we created two modified versions of the UG framed within an economic vs. a moral context that included two kinds of unfair offers: advantageous (upside, U) or disadvantageous (downside, D) from the responder's perspective, and vice-versa for the proponent. The hemodynamic activity of 36 participants, 20 females and 16 males, was continuously recorded with fNIRS to investigate the presence of general or specific circuits between the different experimental conditions. Results showed that disadvantageous offers (D) are associated with an increased widespread cortical activation. Furthermore, we found that advantageous moral choices at the expense of others (U) were related to the activation of the right prefrontal cortex. Finally, we found gender-related differences in brain activations in the different frameworks. In particular, the DLPFC was recruited by females during the economic task, and by males during the moral frame. In conclusion, the present study confirmed and expanded previous data about the role of the prefrontal cortices in decision-making, suggesting the need for further studies to understand better the different prefrontal networks serving moral and economic decisions also considering gender-related differences.

Synthesis of trifluoromethylated isoxazoles and their elaboration through inter- and intra-molecular C-H arylation.

We report conditions for the preparation of a range of trifluoromethylated isoxazole building blocks through the cycloaddition reaction of trifluoromethyl nitrile oxide. It was found that controlling the rate (and therefore concentration) of the formation of the trifluoromethyl nitrile oxide was Critical for the preferential formation of the desired isoxazole products versus the furoxan dimer. Different conditions were optimised for both aryl- and alkyl-substituted alkynes. In addition, the reactivity at the isoxazole 4-position has been briefly explored for these building blocks. Conditions for intermolecular C-H arylation, lithiation and electrophile quench, and alkoxylation were all identified with brief substrate scoping that signifies useful tolerance to a range of functionalities. Finally, complementary processes for structural diversification through either intramolecular cyclisation or intermolecular cross-coupling were developed.

Postoperative oral contraceptive exposure and risk of endometrioma recurrence.

OBJECTIVE: The purpose of this study was to compare the postoperative risk of endometrioma recurrence in women using oral contraception and in those undergoing simple observation. STUDY DESIGN: After laparoscopic excision of ovarian endometriotiomas, a cyclic, low-dose, monophasic oral contraceptive pill (OCP) was offered to women not seeking pregnancy. One month after surgery, and every 6 months afterward, the patients underwent clinical and ultrasonographic assessment. RESULTS: Of the 277 patients who entered the study, 102 used OCP for the entire follow-up period (always users), 129 used OCP discontinuously (ever users), and 46 declined treatment (never users). The median follow-up was 28 months. Recurrent endometriotic cysts were detected in 74 subjects (27%). The 36-month cumulative proportion of subjects free from endometrioma recurrence was 94% in the always users compared with 51% in the never users (P < .001); adjusted incidence rate ratio (IRR) = 0.10 (95% CI, 0.04-0.24). CONCLUSION: Regular postoperative use of OCP effectively prevents endometrioma recurrence.