Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a genetically heterogeneous renal disorder leading to progressive loss of renal function. ADTKD-REN is due to rare mutations in renin, all localized in the protein leader peptide and affecting its co-translational insertion in the endoplasmic reticulum (ER). Through exome sequencing in an adult-onset ADTKD family we identified a new renin variant, p.L381P, mapping in the mature protein. To assess its pathogenicity, we combined genetic data, computational and predictive analysis and functional studies. The L381P substitution affects an evolutionary conserved residue, co-segregates with renal disease, is not found in population databases and is predicted to be deleterious by in silico tools and by structural modelling. Expression of the L381P variant leads to its ER retention and induction of the Unfolded Protein Response in cell models and to defective pronephros development in zebrafish. Our work shows that REN mutations outside of renin leader peptide can cause ADTKD and delineates an adult form of ADTKD-REN, a condition which has usually its onset in childhood. This has implications for the molecular diagnosis and the estimated prevalence of the disease and points at ER homeostasis as a common pathway affected in ADTKD-REN, and possibly more generally in ADTKD

Percutaneous Repair of Radial Artery Pseudoaneurysm in a Hemodialysis Patient Using Sonographically Guided Thrombin Injection

We report a case of a radial artery pseudoaneurysm complicating an incorrect puncture of a Brescia-Cimino hemodialysis fistula that was treated with percutaneous ultrasound-guided thrombin injection. The pseudoaneurysm recurred after the initial successful thrombin injection. With a second injection we obtained permanent pseudoaneurysm occlusion. Our case illustrates that this procedure is an effective treatment in this type of arteriovenous fistula complication. We compare this case with the only similar one we could find in the literature

Emotional intelligence as a mediator between attachment security and empathy in pre-clinical medical students: A multi-center cross-sectional study

Objective: To explore the association of emotional intelligence (EI) and attachment security (AS) with empathy dimensions in medical students by examining the mediating role of EI. Methods: In a cross-sectional design, the Interpersonal Reactivity Index (IRI), the Emotional Quotient Inventory (EQ-i), the Attachment Style Questionnaire (ASQ), and demographic questions were administrated to second-year medical students of two medical schools in Northern Italy. Results: 253 medical students (56.13% female), aged 19-29, participated in this study. AS positively correlated to Empathic Concern (r = 0.17, p = 0.008) and Perspective Taking (r = 0.24, p < 0.001), and negatively to Personal Distress (r = -0.33, p < 0.001). Individuals with the same level of AS and a higher score on EQ-i had a higher score (β = 0.072, p = 0.033) on empathy latent factor (at the basis of Empathic Concern and Perspective Taking) and a lower score (β = -0.290, p < 0.001) on Personal Distress than those with a lower EQ-i score. Conclusion: This study shows that EI completely mediated the relationship between AS and empathy dimensions among medical students. Practice implications: EI training and workshop should be considered when designing educational interventions and programs to enhance empathy and decrease interpersonal distress in medical students

Training in communication and emotion handling skills for students attending medical school: Relationship with empathy, emotional intelligence, and attachment style

Objective: To describe the Emoty-Com training, its impact on medical students' attitudes towards doctors' emotions and to explore the association between students' empathy, emotional intelligence (EI), and attachment style (AS) with post-training performance scores. Methods: The 16-hour Emoty-Com training was delivered to all second-year medical students of Verona and Milan (Italy) Universities. At pre-training, students filled out three questionnaires assessing empathy, AS and EI and responded to three questions on attitudes towards doctors' emotions in the doctor-patient encounter. The same three questions and a final evaluation test were proposed at post-training. Results: 264 students participated in the study. The training reduced students' worry about managing emotions during doctor-patient relationships. Gender was associated with specific subscales of empathy, EI, and AS. Final performance scores were associated with students' attitudes towards emotions but not with empathy, EI, and AS. Conclusion: The Emoty-Com training increased students' self-efficacy in handling their own emotions during consultations. Students' performance scores were related to their attitude towards doctors' emotions in clinical encounters. Practice implications: The Emoty-Com training suggests ways to teach and evaluate emotion-handling skills for medical students. Possible links between empathy, EI, AS, and the attitudes towards doctors' emotions during the years of education are highlighted

Laboratory medicine and emergency medicine: a perpetual relationship

The essential goals that laboratorymedicine shall pursue to adequately fulfill clinical needs can be summarized in delivering high quality information,availability of clinically usable tests and turnaround time. The governance of urgent laboratory testing encompassesa harmonious integration of clinical needs and laboratory organization. Clinical laboratories shall hence be morefocused on the pre-preanalytical phase, be involved in proactive efforts for standardizing pre-analytical and analyticalprocedures, optimize the post-analytical and post-post-analytical phases, thus providing a complete information andallowing the achievement of favorable outcomes. Throughout this ample and multifaceted process, the strictcooperation between laboratory professionals and emergency physicians is pivotal. As rationale follow-up of thecollective article published concomitantly with the first joint Academy of Emergency Medicine and Care (AcEMC) -Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC) meeting, this new collective paperaims to summarize the topics discussed during the second joint event \u201cLaboratory Medicine and EmergencyMedicine: a resumed link\u201d, specifically including the governance of urgent tests, acid-base disorders, venousthromboembolism, acute heart failure, trauma, acute intoxications, viral diseases and other emerging infections

Association between relational attitudes and a training in communication and emotion handling skills

Background: The Emoty-Com training is a 16 hours-course based on interactive teaching to increase communication and emotion- handling skills for medical students. The study aimed to describe the Emoty-Com training impact on medical students’ attitudes towards patients’ emotions and to explore the association between students’ empathy, emotional intelligence (EI), attachment style (AS) and at- titudes with post-training performance scores. Methods: The Emoty-Com training was delivered to all second- year students of Medicine and Surgery Schools in Verona and Milan (Italy) Universities. Empathy, AS and EI were assessed at pre- training; attitudes towards emotions in the doctor-patient encounter were assessed at pre-training and post-training; at post-training, a final test evaluating the knowledge acquired during the training was administered. Findings: The Emoty-Com training increased the relevance at- tributed to doctor emotional involvement, at least by male students, and students’ perception of self-efficacy in handling their own emotions during a consultation. Students with higher final test scores were those with less perceived self-efficacy in dealing with patients’ emotions before the training, while students with lower final scores were those who tended to give scarce importance to doctors' emotions in the clinical encounter after the training. Discussion: In contrast with previous literature, the relationship between AS, EI, empathy, and communication skills measured by the final test was not confirmed. Students' acquired knowledge resulted related to their attitude towards emotions, which should be con- sidered in adapting future training to the specific needs of medical students

Università Cattaneo research reports

Il presente studio intende focalizzarsi sull'implementazione della MRgFUS in Italia, in riferimento al setting di ginecologia per il trattamento dei fibromi uterini, contestualizzando i risultati all'interno di Regione Lombardia. Tale procedura non-invasiva viene spesso utilizzata come valida alternativa ad altre procedure di natura conservativa quali la miomectomia o l'embolizzazione delle arterie uterine, consentendo la preservazione dell'integrità dell'utero e del collo dell'utero ed evitando lo sviluppo di complicanze che potrebbero ridurre in maniera significativa la qualità della vita delle pazienti, aumentando al tempo stesso i costi sociali sostenuti dal Servizio Sanitario Nazionale (SSN). A fronte di ciò, nella logica di poter al meglio governare il processo di scelta tecnologica, attraverso un approccio multidimensionale e multidisciplinare, anche a fronte delle richieste del Patto di Stabilità 2016 DRP/I/XVII/246/15), si rende necessario valutare tutte le implicazioni a livello economico, sociale, clinico, etico e organizzativo (Drummond et al., 2008), dettate dall'introduzione e conseguente adozione, in pratica clinica, di una tecnologia innovativa per il trattamento e la cura dei fibromi uterini. L'analisi multi-dimensionale di Health Technology Assessment ha mostrato i numerosi vantaggi correlati all'introduzione di tale innovazione tecnologica: i) gli eventi avversi correlati al dolore o disagio, nonché alterazioni delle condizioni dermatologiche o del tratto gastrointestinale, sono risultate significativamente meno frequenti nelle donne afferenti al gruppo trattato con MRgFUS; ii) le evidenze scientifiche dimostrano come la tecnologia innovativa risulti essere la procedura correlata a una maggiore efficacia in termini di controllo della sintomatologia, riportando una differenza statisticamente significativa (p-value < 0,001) rispetto alle altre procedure esaminate. Da un punto di vista esclusivamente economico, emerge come più ampia sia la disponibilità di utilizzo di alternative tecnologiche per la popolazione, migliore (ossia inferiore) sarà il livello di spesa per il sistema (risparmio: -6,29%), creando un vantaggio quindi non solo per la struttura ospedaliera e per le pazienti, ma anche per il Servizio Sanitario Regionale, che migliora la risposta ai bisogni di salute, amplia le possibilità a disposizione e al tempo stesso abbatte la spesa complessiva, con un miglior servizio verso la cittadinanza e un percorso più personalizzato. Miglioramenti significativi si riscontrano inoltre considerando sia il punto di vista del paziente sia l'organizzazione erogatrice di tali prestazioni: da un lato emerge una diminuzione del valore di mancata produttività correlato all'episodio di ricovero (risparmio medio del -54,60% se paragonato all'intervento chirurgico e del -20,37% se paragonato alla procedura interventistica di embolizzazione delle arterie uterine); dall'altro, invece, giacché la tecnologia innovativa non necessita di essere implementata all'interno di una sala operatoria, vi è una importante liberazione di risorse e di ore di sala operatoria. A fronte di queste considerazioni, tale analisi ha dimostrato come MRgFUS possa essere un'alternativa valida e, addirittura, preferibile, all'interno dello specifico setting di riferimento, qualora disponibile sul territorio e qualora la struttura di riferimento sia in grado di proporla alle donne che devono affrontare questo problema di salute

Potential feasibility of atezolizumab-bevacizumab therapy in patients with hepatocellular carcinoma treated with tyrosine-kinase inhibitors

Background: The combination of atezolizumab-bevacizumab has been proven to be superior to sorafenib for the treatment of unresectable hepatocellular carcinoma not amenable to locoregional treatments, be-coming the standard of care of systemic therapy.Aim: This study aimed at assessing real-world feasibility of atezolizumab-bevacizumab in patients treated with tyrosine-kinase inhibitors.Methods: Among 1447 patients treated with tyrosine-kinase inhibitors from January 2010 to December 2020, we assessed the percentage of those potentially eligible to atezolizumab-bevacizumab (according to IMbrave-150 trial criteria), and the overall survival of eligible and non-eligible patients.Results: 422 (29%) patients were qualified for atezolizumab-bevacizumab therapy. The main exclusion causes were Child-Pugh class and Performance Status. Adopting the more permissive inclusion criteria of SHARP trial, 535 patients became eligible. The median overall survival of tyrosine-kinase inhibitors patients was 14.9 months, longer in eligible patients than in their counterpart due to better baseline liver function and oncological features.Conclusion: Real-world data indicate that less than one-third of hepatocellular carcinoma patients treated with tyrosine-kinase inhibitors are potentially eligible to atezolizumab-bevacizumab according to the reg-istration trial criteria. These patients have a longer survival than the non-eligible ones. If the selection criteria of atezolizumab-bevacizumab trial are maintained in clinical practice, tyrosine-kinase inhibitors will remain the most used systemic therapy for hepatocellular carcinoma patients.(c) 2022 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved