Voice characteristics in smith–magenis syndrome: An acoustic study of laryngeal biomechanics

Smith–Magenis syndrome (SMS) is a rare genetic disease characterized by intellectual disability, serious behavior disorders, neurodevelopment delay, and speech and language disorders. An acoustic and biomechanical analysis of the voice of SMS young adults was carried out due to (a) the close relationship between the laryngeal biomechanics and the clinical and emotional state of a person; (b) the fact that no research on the voice in this syndrome has been conducted previously. The vocal timbre of most people diagnosed with SMS does not seem to be according to the complexion of diagnosed individuals, nor to their gender and age, so it could be interesting to attend the analysis of phonation of people with a rare genetic syndrome such as SMS. We used BioMetPhon, a specific piece of software to analyze the glottal source and biomechanics of vocals folds. Nineteen features related to dysphonia, physiology, and biomechanics of the vocal folds were considered. The adult phonation of 9 individuals with SMS was analyzed and compared to 100 normative male and female adult voices. Results showed that the phonation of the SMS group significantly deviates from the adult normophonic profile in more than one of the 19 features examined, such as stiffness of the thyroarytenoid muscle and dynamic mass of the vocal fold cover, among othersThis research was funded by grant TEC2016-77791-C4-4-R (Plan Nacional de I+D+i, Ministry of Economic Affairs and Competitiveness of Spain

Estudio de la percepción y conocimientos en Lenguajes de Programación de alumnos y profesores en el marco del proyecto Erasmus+ Code is Loading

En este póster se describe el proyecto de innovación Erasmus+ K201 Code is Loading, la investigación realizada en la universidad acerca de la percepción y conocimientos de estudiantes y profesores sobre programación y lenguajes de programación, los resultados obtenidos y la importancia de los mismos para los distintos socios del proyecto y para la comunidad educativa en general.This poster describes the Erasmus+ K201 ‘Code is Loading’ innovation project, the research carried out at the university on students' and teachers' opinions about coding and programming languages, the results obtained and their importance for the different project partners and for the educational community in general

Randomised multicentre clinical trial to evaluate voriconazole pre-emptive genotyping strategy in patients with risk of aspergillosis: vorigenipharm study protocol.

Introduction Invasive aspergillosis is the most important cause of morbidity and mortality in patients with haematological diseases. At present, voriconazole is the first-line treatment for invasive fungal disease. The pharmacokinetic interindividual variability of voriconazole depends on genetic factors. CYP450 is involved in 70%–75% of total metabolism of voriconazole, mainly CYP3A4 and CYP2C19, with the remaining 25%–30% of metabolism conducted by monooxygenase flavins. CYP2C19 single nucleotide polymorphisms could explain 50%–55% of variability in voriconazole metabolism. Materials and methods The main objective is to compare efficiency of pre-emptive voriconazole genotyping with routine practice. The primary outcome is serum voriconazole on the fifth day within the therapeutic range. The secondary outcome is the combined variables of therapeutic failure and adverse events within 90 days of first administration, associated with voriconazole. A total of 146 patients at risk of invasive aspergillosis who will potentially receive voriconazole will be recruited, and CYP2C19 will be genotyped. If the patient ultimately receives voriconazole, they will be randomised (1:1 experimental/control). In the experimental arm, patients will receive a dose according to a pharmacogenetic algorithm, including CYP2C19 genotype and clinical and demographic information. In the control arm, patients will receive a dose according to clinical practice guidelines. In addition, a Spanish National Healthcare System (NHS) point-of-view cost-effectiveness evaluation will be performed. Direct cost calculations for each arm will be performed. Conclusion This trial will provide information about the viability and cost-effectiveness of the mplementation of a pre-emptive voriconazole genotyping strategy in the Spanish NHS. Ethics and dissemination A Spanish version of this protocol has been evaluated and approved by the La Paz University Hospital Ethics Committee and the Spanish Agency of Medicines and Medical Devices. Trial results will be submitted for publication in an open peer-reviewed medical speciality-specific publication. Trial registration number Eudra-CT: 2019-000376-41 and NCT04238884; Pre-results.post-print441 K

MM, SARS-CoV-2 infection, and inpatient mortality

There is limited information on the characteristics, pre-admission prognostic factors, and outcomes of patients with multiple myeloma (MM) hospitalized with coronavirus disease 2019 (COVID-19). This retrospective case series investigated characteristics and outcomes of 167 MM patients hospitalized with COVID-19 reported from 73 hospitals within the Spanish Myeloma Collaborative Group network in Spain between March 1 and April 30, 2020. Outcomes were compared with a randomly selected contemporary cohort of 167 age-/sex-matched non-cancer patients with COVID-19 admitted at 6 participating hospitals. Common demographic, clinical, laboratory, treatment, and outcome variables were collected; specific disease status and treatment data were collected for MM patients. Among the MM and non-cancer patients, median age was 71 years and 57% of patients were male in each series, and 75% and 77% of patients, respectively, had at least one comorbidity. COVID-19 clinical severity was moderate-severe in 77% and 89% of patients and critical in 8% and 4%, respectively. Supplemental oxygen was required by 47% and 55% of MM and non-cancer patients, respectively, and 21%/9% vs 8%/6% required non-invasive/invasive ventilation. Inpatient mortality was 34% and 23% in MM and non-cancer patients, respectively. Among MM patients, inpatient mortality was 41% in males, 42% in patients aged >65 years, 49% in patients with active/progressive MM at hospitalization, and 59% in patients with comorbid renal disease at hospitalization, which were independent prognostic factors of inpatient mortality on adjusted multivariate analysis. This case series demonstrates the increased risk and identifies predictors of inpatient mortality among MM patients hospitalized with COVID-19.This study was supported by PETHEMA FoundationN

Multiple myeloma and SARS-CoV-2 infection: clinical characteristics and prognostic factors of inpatient mortality

There is limited information on the characteristics, prognostic factors, and outcomes of patients with multiplemyeloma (MM) hospitalized with COVID-19. This retrospective case series investigated 167 patients reported from 73hospitals within the Spanish Myeloma Collaborative Group network in March and April, 2020. Outcomes werecompared with 167 randomly selected, contemporary, age-/sex-matched noncancer patients with COVID-19 admittedat six participating hospitals. Among MM and noncancer patients, median age was 71 years, and 57% of patients weremale; 75 and 77% of patients, respectively, had at least one comorbidity. COVID-19 clinical severity wasmoderate-severe in 77 and 89% of patients and critical in 8 and 4%, respectively. Supplemental oxygen was requiredby 47 and 55% of MM and noncancer patients, respectively, and 21%/9% vs 8%/6% required noninvasive/invasiveventilation. Inpatient mortality was 34 and 23% in MM and noncancer patients, respectively. Among MM patients,inpatient mortality was 41% in males, 42% in patients aged >65 years, 49% in patients with active/progressive MM athospitalization, and 59% in patients with comorbid renal disease at hospitalization, which were independentprognostic factors on adjusted multivariate analysis. This case series demonstrates the increased risk and identifiespredictors of inpatient mortality among MM patients hospitalized with COVID-19

Multiple myeloma and SARS-CoV-2 infection: clinical characteristics and prognostic factors of inpatient mortality

There is limited information on the characteristics, prognostic factors, and outcomes of patients with multiple myeloma (MM) hospitalized with COVID-19. This retrospective case series investigated 167 patients reported from 73 hospitals within the Spanish Myeloma Collaborative Group network in March and April, 2020. Outcomes were compared with 167 randomly selected, contemporary, age-/sex-matched noncancer patients with COVID-19 admitted at six participating hospitals. Among MM and noncancer patients, median age was 71 years, and 57% of patients were male; 75 and 77% of patients, respectively, had at least one comorbidity. COVID-19 clinical severity was moderate–severe in 77 and 89% of patients and critical in 8 and 4%, respectively. Supplemental oxygen was required by 47 and 55% of MM and noncancer patients, respectively, and 21%/9% vs 8%/6% required noninvasive/invasive ventilation. Inpatient mortality was 34 and 23% in MM and noncancer patients, respectively. Among MM patients, inpatient mortality was 41% in males, 42% in patients aged >65 years, 49% in patients with active/progressive MM at hospitalization, and 59% in patients with comorbid renal disease at hospitalization, which were independent prognostic factors on adjusted multivariate analysis. This case series demonstrates the increased risk and identifies predictors of inpatient mortality among MM patients hospitalized with COVID-19

Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management

Background: Immunodeficiencies (ID), in particular primary immunodeficiencies (PID), are often associated with haematological manifestations, such as peripheral cytopenias or lymphoproliferative syndromes. Early diagnosis and management have significant prognostic implications. Secondary immunodeficiencies (SID) may also be induced by oncohaematological diseases and their treatments. Haematologists and oncologists must therefore be aware of the association between blood disorders and cancer and ID, and be prepared to offer their patients appropriate treatment without delay. Our aim was to define the warning signs of primary and secondary IDs in paediatric and adult patients with oncohaematological manifestations.Methods: A multidisciplinary group of six experts (2 haematologists, 2 immunologists, and 2 paediatricians specializing in ID) conducted a literature review and prepared a document based on agreements reached an in-person meeting. An external group of 44 IDs specialists from all over Spain assessed the document and were consulted regarding their level of agreement.Results: This document identifies the haematological and extra-haematological diseases that should prompt a suspicion of PIDs in adults and children, in both primary care and haematology and oncology departments. Cytopenia and certain lymphoproliferative disorders are key diagnostic pointers. The diagnosis must be based on a detailed clinical history, physical exploration, complete blood count and standard laboratory tests. The immunological and haematological tests included in the diagnostic process will depend on the care level. Patients who are candidates for immunoglobulin replacement therapy must be carefully selected, and treatment should be offered as soon as possible to avoid the development of complications. Finally, this document recommends procedures for monitoring these patients.Conclusions: This document combines scientific evidence with the opinion of a broad panel of experts, and emphasizes the importance of an early diagnosis and treatment to avoid complications. The resulting document is a useful tool for primary care physicians and specialists who see both adult and paediatric patients with oncohaematological diseases

DTUI: Diseño de entornos basados en interfaces de usuario distribuidas y tangibles

In recent years, technology has expanded in such a way that, nowadays, any person is surrounded by multiple devices (tablets, smartphones, smartwatches, smartdevices, etc.) that are connected together to provide services to the user. This type of scenarios that surround us are called Multi-Device Environments (MDEs). At present the interaction between users and these new multi-device environments is complicated and poses new challenges that remain unresolved because, among other things, the method of interaction does not take into account the natural way in which the user operates in the real world. Many research works related to human-computer interaction have focused on the development of interaction techniques that are more natural for the user. Out of this has come an area of research, called Distributed User Interfaces (DUIs), that addresses the distribution of interfaces over different devices to adapt the interaction to the needs of the user. However, the profusion of devices separates the user from their natural environment. In order to enhance and enrich the real world with the digital, in a non-invasive way, but at the same time providing functionality, Tangible User Interfaces (TUIs) have been created. These give physical form to digital information, allowing users to manipulate real physical objects to interact with the system. This thesis focuses on the study of multi-device environments that are based on distributed and tangible user interfaces (DTUIs). First, we define the concept of a DTUI environment as a space for interaction made up of multiple devices and tangible interaction objects that combined offer more natural and intuitive interaction mechanisms. Specifically, we have studied three interaction techniques, including two tangible ones: T2R (Tag to Reader), which consists in taking a tangible interaction object and bringing it up close to a digital device that incorporates a reader-type component; and R2T (Reader to Tag), where the user brings the reader up close to the tangible interaction object in order to interact. The third interaction technique is Tactile, and this is based on interacting with the digital device through the sense of touch. The overall objective of this thesis is to provide a solution for the development of multi-device environments that offer natural and intuitive interaction mechanisms between the user and the system through distributed and tangible user interfaces. The aim is to advance the development of DTUI environments in order to obtain more intuitive interaction systems that make it possible to bridge the technological gap and improve the user's involvement and the collaboration between multiple users. In order to achieve this, we propose different tools that allow the construction of DTUI environments with these characteristics. The method used during the research process has been based on the analysis, design, development and assessment of different prototypes of DTUI environments to conduct individual and group tasks of different natures. Specifically, these were to facilitate tasks related to education and cognitive rehabilitation, work meetings and tourism. The process was sequential and made use of the latest technologies (mobile devices, wearables, NFC, etc.) in order to obtain information on their suitability depending on the type of end user. Each DTUI environment was focused on a group of users with different profiles and characteristics (users with disabilities, ADHD, Alzheimer's, children, etc.). As a result of this process and the lessons learned in the development of each system, we have proposed a taxonomy and a DTUI metamodel to define structures and structuring rules that allow the representation of elements contained within a DTUI environment. In addition, we have defined 14 guidelines, called Delaguia-Guidelines, that serve as guidance and an aid in decision-making for the development of the most appropriate DTUI environment for every occasion, depending on environment characteristics such as: physical space, social affordance, the total number of devices and the three types of DTUI interaction techniques (Tactile, T2R and R2T). Furthermore, the guidelines incorporate recommendations for the most appropriate DTUI scenario design for the end user, taking into account whether they have some kind of physical, cognitive or digital impairment. Finally, the taxonomy, the metamodel and the guidelines defined have been applied to a case study, namely Master Chef, in order to assess the validity of the proposal