Mutation profile of BBS genes in patients with Bardet-Biedl syndrome : An Italian study

Background: Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis is often crucial for the definition of appropriate patient management and for the development of a potential personalized therapy. Methods: We developed a next-generation-sequencing (NGS) protocol for the screening of the 18 most frequently mutated genes to define the genotype and clarify the mutation spectrum of a cohort of 20 BBS Italian patients. Results: We defined the causative variants in 60% of patients; four of those are novel. 33% of patients also harboured variants in additional gene/s, suggesting possible oligogenic inheritance. To explore the function of different genes, we looked for correlations between genotype and phenotype in our cohort. Hypogonadism was more frequently detected in patients with variants in BBSome proteins, while renal abnormalities in patients with variations in BBSome chaperonin genes. Conclusions: NGS is a powerful tool that can help understanding BBS patients' phenotype through the identification of mutations that could explain differences in phenotype severity and could provide insights for the development of targeted therapy. Furthermore, our results support the existence of additional BBS loci yet to be identified

Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study

The blockchain technology promises to transform finance, money and evengovernments. However, analyses of blockchain applicability and robustness typicallyfocus on isolated systems whose actors contribute mainly by running the consensusalgorithm. Here, we highlight the importance of considering trustless platformswithin the broader ecosystem that includes social and communication networks. Asan example, we analyse the flash-crash observed on 21st June 2017 in the Ethereumplatform and show that a major phenomenon of social coordination led to acatastrophic cascade of events across several interconnected systems. We proposethe concept of “emergent centralisation” to describe situations where a single systembecomes critically important for the functioning of the whole ecosystem, and arguethat such situations are likely to become more and more frequent in interconnectedsocio-technical systems. We anticipate that the systemic approach we propose willhave implications for future assessments of trustless systems and call for the attentionof policy-makers on the fragility of our interconnected and rapidly changing world

Obstetric outcomes of booked teenage pregnancies at University of Calabar Teaching Hospital, Nigeria

Boniface Uji Ago, Sylvester Abeshi, Charles Njoku, Thomas Udagbor Agan, John EkabuaDepartment of Obstetrics and Gynaecology, University of Calabar Teaching Hospital, Calabar, NigeriaBackground: Teenage pregnancy is high-risk and associated with complications due to adverse physiological, anatomical, and socioeconomic factors. The purpose of this study was to determine the patterns and obstetric outcomes of booked teenage pregnancies at the University of Calabar Teaching Hospital (UCTH) in Nigeria.Methods: A retrospective comparative analysis of teenage pregnancies and mature mothers at UCTH was carried out from January 2011 to December 2011. A total of 82 teenage pregnancies and 72 mature pregnancies were compared.Results: There were 145 teenage deliveries from a total of 2313 deliveries, ie, 6.3% of total deliveries. There was no statistically significant difference in the mode of delivery (cesarean section, spontaneous vaginal delivery, instrumental delivery) between the groups of mothers. There was also no difference in risk of complications, including obstructed labor, retained placenta, uterine atony, pre-eclampsia/eclampsia, and antepartum hemorrhage. However, teenage mothers had more perineal lacerations (P = 0.02) and more preterm labor (P = 0.05), and delivered more low-birth-weight babies (P = 0.02).Conclusion: Supervised teenage pregnancy may not be as hazardous as previously thought.Keywords: teenage pregnancy, booked pregnancy, obstetric outcom

The role of adjuvant therapy in pT4N0 laryngectomized patients: Multicentric observational study

Background: To retrospectively evaluate oncological outcomes in two groups of patients with pT4aN0 glottic SCC treated with total laryngectomy (TL) and neck dissection (ND) who underwent postoperative radiotherapy or exclusive clinical and radiological follow-up. Methods: It includes patients with pT4N0 glottic SCC who underwent TL and unilateral or bilateral ND with or without PORT. Divided in two comparison groups: the first group underwent adjuvant RT (TL-PORT); the second group referred to clinical and radiological follow-up (TL). Results: PORT was associated with a better OS while no differences were found in terms of DSS. A better local control is achieved when PORT is administered while no differences in terms of regional and distant control rates were found. Bilateral ND positively impacts on the regional control while the PNI negatively impact the regional control. Conclusions: A tailored PORT protocol might be considered for pT4N0 glottic SCC treated with TL and ND, both considering the ND's extent and presence of PNI