https://hdl.handle.net/2072/452966 2026-04-19T12:25:09Z https://hdl.handle.net/10256/28678 Psychological distress in relatives undergoing familial screening for hypertrophic or dilated cardiomyopathy: a prospective longitudinal observational cohort study Puig Torrens, Júlia BACKGROUND: Inherited cardiomyopathies, such as hypertrophic cardiomyopathy (HCM) and dilated (DCM) cardiomyopathy, can present with a wide range of symptoms and in some occasions lead to sudden cardiac death (SCD) in young individuals. Familial screening enables early identification of at-risk relatives, enabling prevention and improving clinical management. While the psychological burden of affected individuals has been well documented, the emotional impact of screening of at-risk asymptomatic relatives requires additional evaluation. Understanding the psychological responses to screening is essential for optimizing genetic counseling and psychological support for families. OBJECTIVE: To evaluate the psychological distress associated with familial cardiomyopathy screening, examining differences between gene-positive and gene-elusive families and changes over a one-year period. DESIGN: Prospective, longitudinal, observational cohort study conducted at the Familial Cardiomyopathies Unit, Hospital Universitari de Girona Dr. Josep Trueta over a 3-year period. The current study encompasses (1) a cross-sectional comparison of emotional distress at baseline between relatives belonging to gene-positive and gene-elusive families, and (2) a longitudinal evaluation of changes in distress after one-year of follow-up. PARTICIPANTS: Asymptomatic adult relatives of index patients diagnosed with HCM or DCM, recruited consecutively at their first visit for family screening. METHODS: A total of 168 participants will be recruited and divided into two subgroups based on family genetic status: gene-positive gene-elusive families. Psychological distress will be measured using the Hospital Anxiety and Depression Scale (HADS) at three time points: baseline (T0), immediately after disclosure of genetic results (Tg, for those belonging to gene-positive families only), and one-year follow-up (T1). Data will be recorded in an electronic Case Report Form and analyzed using descriptive and inferential statistics; 3 2025-11-01T00:00:00Z https://hdl.handle.net/10256/28671 Evaluation of ureteral stents in bricker urinary diversion after radical cystectomy; randomized clinical trial Rodríguez Bravo, Judith Background: Radical cystectomy followed by Bricker-type ileal conduit urinary diversion is the standard treatment for muscle-invasive bladder cancer. Currently, the placement of ureteral stents is the gold standard to protect the uretero-ileal anastomosis. However, these devices are associated with significant morbidity, including urinary tract infections (UTIs), hematuria, and physical discomfort. Objective: The primary aim of this study is to evaluate and compare the incidence of early, mid-term, and long-term postoperative complications between patients undergoing radical cystectomy with Bricker diversion without ureteral stents (stentless) versus the standard procedure with stents. Methods: This is a multicenter, prospective, randomized, open-label, noninferiority trial involving nine hospitals in Catalonia. A total of 404 patients will be randomized 1:1 into two groups: the experimental group (stentless) and the control group (standard 6-7 Fr Mono-J stents). The primary endpoint is the incidence of complications within 12 months, measured by the Clavien-Dindo Classification System. Secondary variables include UTI rates, length of hospital stay, renal function evolution (eGFR and creatinine), and patient-reported pain using the Visual Analogue Scale (VAS). Expected Impact: If the stentless approach proves non-inferior, it could transform the standard of care by reducing stent-associated morbidity, enhancing patient physical comfort, and optimizing healthcare resources within the public health system; 3 2026-01-01T00:00:00Z https://hdl.handle.net/10256/28670 Implementation of a standardized phenotyping-based diagnostic protocol in hereditary ataxias: a multicentric parallel cluster randomized trial Panadés Villalobos, Paula Background: Hereditary ataxias comprise a heterogeneous group of rare neurodegenerative disorders characterized by progressive loss of coordination and extensive clinical and genetic variability. The current diagnostic process is often prolonged and observer-dependent, with an average delay of several years and only half of patients achieving a confirmed genetic diagnosis. Objective: This study aims to design and evaluate a standardized phenotyping-based diagnostic protocol to increase the proportion of genetically confirmed cases within the first year of clinical assessment, as well as to extend current knowledge on the clinical and phenotypic spectrum of hereditary ataxias and its correlation with genotype. Methods: A multicentre parallel cluster randomized trial (CRT) will be conducted across six hospitals in Catalonia. Hospitals will be randomized to either the implementation of a new diagnostic protocol, which integrates structured neurological, oculomotor, neurophysiological, and neuroimaging assessment, or to continue routine diagnostic practice. The primary outcome will be the proportion of confirmed molecular diagnosis within the first 12 months of clinical evaluation. Expected impact: By providing a structured approach to the diagnostic process, this protocol is expected to shorten diagnostic delays, therefore facilitating access to therapeutic and supportive strategies, from potential treatments and genetic counseling to reproductive planning and social support, overall improving quality of care for individuals with hereditary ataxia; 3 2025-11-01T00:00:00Z https://hdl.handle.net/10256/28667 Efectes de l’edat materna en la capacitat fecundant de l’oòcit Masferrer Rodríguez, Emma Currently, the shift in people’s mindset, lifestyle and labour opportunities has led to an increasing trend towards delayed childbearing. Due to this increase in the number of women deciding to get pregnant at ages older than the optimal and having been demonstrated the existence of a negative correlation between aging and women’s fertility, oocytes from older women have become the subject of study, as it is known that, because of the process of ovarian aging, oocytes undergo a decline in quality. This decline in oocyte quality with ageing arises from the adverse effects of certain molecular processes and mechanisms that occur in the oocyte. The processes that have been demonstrated to compromise the oocyte quality and that have been assessed in this dissertation are the loss of chromosome cohesion; mitochondrial dysfunction, which leads to an excessive accumulation of ROS and, consequently, oxidative stress; the spindle instability and the mistaken chromosome segregation, which are highly related with the appearance of aneuploidies; and, finally, the DNA damage, that underlies meiosis errors. As the delay in childbearing is becoming more popular, more women need to draw on assisted reproductive technologies (ART) to achieve their desire to become mothers. Nevertheless, not only can the diminished quality of their oocytes make the process of getting pregnant more difficult, but it can even lead to infertility. Because of that, the study of new therapeutic approaches and strategies to reverse or mitigate the decline in quality and fertility in older women has become necessary, opening a new avenue of research. While some strategies have been discussed herein, like the supplementation with certain antioxidants and other types of molecules, such as melatonin, apocynin, CNP or NMN, further investigation is needed to thoroughly understand the problem of the declining quality and fertility in women, as none of the strategies referred to in this work represent a final solution to the problem mentioned; 3 2025-07-01T00:00:00Z