https://hdl.handle.net/2072/2054 www.udg.edu Sun, 19 Apr 2026 22:18:56 GMT 2026-04-19T22:18:56Z http://recercat.cat:80/bitstream/id/b97b52da-9bad-49d4-9c64-f79909f23d0e/ https://hdl.handle.net/2072/2054 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 Sat, 01 Nov 2025 00:00:00 GMT https://hdl.handle.net/10256/28678 2025-11-01T00:00:00Z https://hdl.handle.net/10256/28672 Cardiac channelopathies in pediatrics: a genetic update Martínez-Barrios, Estefanía; Campuzano Larrea, Oscar; Greco, Andrea; Cruzalegui, José; Sarquella Brugada, Georgia Cardiac channelopathies are a group of inherited syndromes that can cause malignant arrhythmias and sudden cardiac death, particularly in the pediatric population. Today, a 12-lead electrocardiogram is the most effective tool to diagnose these diseases. Incomplete penetrance and variable expressivity are hallmarks of these syndromes. Some of these malignant entities may remain hidden and only a trigger such as exercise, emotions or fever can unmask the electrical pattern to diagnose the disease. Sudden cardiac death may be the first manifestation of any of these syndromes. The use of complementary tests that allow early diagnosis is strongly recommended, among which we find: pharmacological provocations, exercise tests, and genetic analysis. Genetic testing makes it possible to unravel the origin of the disease, and also identify family members who carry the harmful genetic defect and are therefore at risk. One of the main challenges in this area is the large number of genetic variants of uncertain significance, which prevent effective translation into clinical practice. Early identification of the pediatric population at risk and adequate risk stratification are crucial to adopting personalized preventive measures that reduce the risk of lethal episodes in this population; We thank the support of ISCIII (Carlos III Health Institute) FIS PI21/0094 co-funded by the European Union and Fundació Bosch i Aymerich. CIBERCV is an initiative of the ISCIII, Ministry of Economy and Competitiveness of Spain. IDIBGI and IRSJD are a “CERCA Programme/Generalitat de Catalunya.” https://hdl.handle.net/10256/28672 https://hdl.handle.net/10256/28677 A Farm-scale water balance assessment of various rice irrigation strategies using a bucket-model approach in Spain Cufí Aregay, Sílvia; Arbat Pujolràs, Gerard; Pinsach Boada, Jaume; Cuadrado-Alarcón, Blanca; Facchi, Arianna; Villar Mir, Josep Ma.; Dechmi, Farida; Ramírez de Cartagena Bisbe, Francisco Making effective decisions about scaling up on-farm irrigation practices to the district level requires a comprehensive assessment of irrigation management at the farm level. In this context, a bucket-type water mass balance model was developed, calibrated, and validated over five irrigation seasons on a 121-hectare rice farm located in the lower Ter River valley (north-east Spain), to assess the water use efficiency and the impact of different irrigation practices on water savings. The model was implemented considering the spatial variability of the soils within the farm. It showed a satisfactory performance in both the calibration (2020, 2021, 2022) and validation (2023, 2024) cropping seasons, with NSE values greater than 0.50, PBIAS lower than ±20%, and RSR lower than 0.70. After model validation, the simulation of alternative water management practices revealed that the 10-day fixed-turn irrigation reduced irrigation water use by 30% compared to the traditional water management, although it may negatively impact rice yield. Simulations of an early irrigation cut-off at the end of the season and dry seeding with delayed flooding accounted for 17% and 15% irrigation water savings, respectively. The implementation of the no-runoff practice only accounted for a 6% reduction in water use. The water-saving potential of the simulated strategies was mainly driven by shortening the flooded period of rice paddies, thus demonstrating that managing the ponding water level is critical to diminishing water use in rice irrigation; This research was carried out within the framework of MEDWATERICE and PROMEDRICE projects. Both projects are part of the PRIMA program supported by the European Union, and received funding from the Spanish Agencia Estatal de Investigación under grant agreements PCI2019-103738 and PCI2023-143435, respectively, as part od PRIMA program. This work was also supported by the Ministerio de Ciencia, Innovación y Universidades of Spain through an FPU predoctoral grant, under the grant agreement FPU20/01123; 6; 9 Tue, 07 Oct 2025 00:00:00 GMT https://hdl.handle.net/10256/28677 2025-10-07T00:00:00Z https://hdl.handle.net/10256/28674 Alternative underdrain designs for reducing pressure drop across sand media filters Pujol i Sagaró, Toni; Arbat Pujolràs, Gerard; Bové Masmiquel, Josep; Puig Bargués, Jaume; Duran i Ros, Miquel; Velayos Solé, Joaquim; Ramírez de Cartagena Bisbe, Francisco Reduction of pressure drop across sand media filters – which are broadly used for preventing emitter clogging – should help reducing energy consumption in microrrigation systems. Previous research has shown that most of the pressure drop is located at sand filter underdrain. In this work, the effect of the nozzle geometry on the pressure drop of a sand filter was experimentally studied. Four nozzles were analysed: one commercially produced with a conical shape and three alternative cylindrical underdrains that were built for the experiment and that differed in the location and the number of slots. Experiments in both filtration mode and backwashing conditions for a wide range of superficial velocities were carried out at the laboratory. The results reported that a reduction of the filter energy consumption greater than 20% could be achieved by simply modifying the position of the slots above the surface of the underdrain element. The effects of the nozzle were further investigated by means of an analytical model that predicted the pressure drop of the water flow through the filter. The model confirmed that the distribution of the slots in the underdrain was a critical factor for determining the length of the region with a nonuniform flow within the sand. When using the commercial nozzle at flow rates >0.85 l/s, this region produced the major contribution to energy losses in the filter due to increases in the tortuosity of the water path within the porous medium. From these results, it is suggested that an affordable way to increase the energy efficiency of already existing installations would be to replace the current underdrain elements with new improved designs that have 40% more slots in its cylindrical surface; The authors would like to express their gratitude to the Spanish Ministry of Economy, Industry and Competitiveness for their financial support for this experiment though grant AGL2015-63750-R. P. Sala, S. Saus and J. Vicens provided very helpful technical assistance; 6 Mon, 01 Jan 2018 00:00:00 GMT https://hdl.handle.net/10256/28674 2018-01-01T00:00:00Z