The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

We report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined oxidative phosphorylation deficiency) syndrome. Whole-exome sequencing (WES) of the three patients and the healthy sister of one of them was used to identify the carry gene. Clinical and biochemical findings were used to filter variants, and molecular, in silico and genetic studies were performed to characterize the candidate variants. Mitochondrial DNA (mtDNA) defects involving mutations, deletions or depletion were discarded, whereas WES uncovered a double homozygous mutation in the MTO1 gene (NM_001123226:c.1510C>T, p.R504C, and c.1669G>A, p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. Therefore, our data confirm p.R504C as pathogenic mutation responsible of ONCE syndrome, and p.V557M as a rare polymorphic variant.post-print712 K

Cuidado espiritual a las madres de neonatos críticos hospitalizados

Objetive: Describe and understand the spiritual care provided to mothers of critically ill infants hospitalized in a public hospital in Chiclayo, Peru. Material and methods: Qualitative descriptive exploratory research; the sample was not probabilistic and the size was determined by the saturation and redundancy technique, being the subjects of study 12 mothers who have their children hospitalized in the Neonatal Intensive Care Unit, and 12 nurses, this allowed triangulating the information; In addition, the data was collected through the in-depth semi-structured interview, then they were processed manually by means of content analysis. Results: a) Recognition of religious beliefs, b) Prayer as the main spiritual resource. Devoted internship facilities, c) Assessment and respect for religious creed. Conclusion: In the neonatology environment, mothers have a lactation room that is decorated with religious symbols such as the Divine Child and the Virgin Mary. Meanwhile, in the neonatal critical care unit, nurses facilitate the entry of different religious leaders. Some mothers leave stamps, rosaries or other religious symbols in incubators according to their culture. Regardless of religion, prayer is the most practiced spiritual resource in this context, since nurses pray at the begging of their work shift or do it afterwards with the mothers, who pray together with their children and in a group. In the study, the majority professed the Catholic religion, but they found as limiting the short time that the have to give greater emphasis to spiritual care.Objetivo: Describir y comprender el cuidado espiritual que se brinda a las madres de neonatos críticos hospitalizados en un hospital público de Chiclayo, Perú. Material y métodos: Investigación cualitativa exploratoria descriptiva; la muestra fue no probabilística y el tamaño se determinó por la técnica de saturación y redundancia, siendo los sujetos de estudio 12 madres que tienen a sus hijos hospitalizados en la Unidad de Cuidados Intensivos Neonatales, y 12 enfermeras, esto permitió triangular la información; además los datos se recolectaron a través de la entrevista semiestructurada a profundidad, luego fueron procesados de manera manual mediante el análisis de contenido. Resultados: a) Reconocimiento de las creencias religiosas, b) La oración como el principal recurso espiritual, c) Facilidades para prácticas devotas. Conclusión: En el ambiente de neonatología, las madres tienen un lactario que está decorado con símbolos religiosos como el Divino Niño y la Virgen María. Mientras tanto, en la unidad de cuidados críticos neonatales, las enfermeras facilitan el ingreso de diferentes líderes religiosos. Algunas madres dejan en las incubadoras estampitas, rosarios u otro símbolo religioso de acuerdo a su cultura. Independientemente de la religión, la oración es el recurso espiritual más practicado en este contexto, pues las enfermeras rezan al iniciar el turno de trabajo o lo hacen luego con las madres, quienes oran junto a sus niños y en grupo. En el estudio, la mayoría profesa la religión católica, pero encontraron como limitante al escaso tiempo que tienen para dar mayor énfasis al cuidado espiritual

Analysis of the Attitudes towards Sexuality in People with Intellectual Disabilities: A Cross-Sectional Study

The barriers faced by people with intellectual disabilities are many. One of the areas in which many problems have been identified is the sexual domain. This descriptive study aims to analyze the attitudes of the family environment, professional carers, and the general population toward their sexuality. A cross-sectional descriptive study was carried out between 2022 and 2023, using convenience sampling among family members and carers from different centers working with people with intellectual disabilities in Spain, and among the general population not related to people with intellectual disabilities. A total of 583 responses were received and significant differences were found for all variables, with the variables related to family or work proximity being those that provided the most significant and relevant results. It was observed that the male sex has a more paternalistic attitude and that in rural areas there is a more permissive attitude towards the sexuality of people with intellectual disabilities. People who work with people with disabilities have more positive attitudes towards this group, while direct relatives have more paternalistic attitudes. Nursing care in the community and specialized centers should be based on an adequate therapeutic relationship and personalized care

Correction : Chaparro et al. Incidence, Clinical Characteristics and Management of Inflammatory Bowel Disease in Spain: Large-Scale Epidemiological Study. J. Clin. Med. 2021, 10, 2885

The authors wish to make the following corrections to this paper [...]

Incidence, Clinical Characteristics and Management of Inflammatory Bowel Disease in Spain : Large-Scale Epidemiological Study

(1) Aims: To assess the incidence of inflammatory bowel disease (IBD) in Spain, to describe the main epidemiological and clinical characteristics at diagnosis and the evolution of the disease, and to explore the use of drug treatments. (2) Methods: Prospective, population-based nationwide registry. Adult patients diagnosed with IBD-Crohn's disease (CD), ulcerative colitis (UC) or IBD unclassified (IBD-U)-during 2017 in Spain were included and were followed-up for 1 year. (3) Results: We identified 3611 incident cases of IBD diagnosed during 2017 in 108 hospitals covering over 22 million inhabitants. The overall incidence (cases/100,000 person-years) was 16 for IBD, 7.5 for CD, 8 for UC, and 0.5 for IBD-U; 53% of patients were male and median age was 43 years (interquartile range = 31-56 years). During a median 12-month follow-up, 34% of patients were treated with systemic steroids, 25% with immunomodulators, 15% with biologics and 5.6% underwent surgery. The percentage of patients under these treatments was significantly higher in CD than UC and IBD-U. Use of systemic steroids and biologics was significantly higher in hospitals with high resources. In total, 28% of patients were hospitalized (35% CD and 22% UC patients, p < 0.01). (4) Conclusion: The incidence of IBD in Spain is rather high and similar to that reported in Northern Europe. IBD patients require substantial therapeutic resources, which are greater in CD and in hospitals with high resources, and much higher than previously reported. One third of patients are hospitalized in the first year after diagnosis and a relevant proportion undergo surgery

Jardins per a la salut

Facultat de Farmàcia, Universitat de Barcelona. Ensenyament: Grau de Farmàcia. Assignatura: Botànica farmacèutica. Curs: 2014-2015. Coordinadors: Joan Simon, Cèsar Blanché i Maria Bosch.Els materials que aquí es presenten són el recull de les fitxes botàniques de 128 espècies presents en el Jardí Ferran Soldevila de l’Edifici Històric de la UB. Els treballs han estat realitzats manera individual per part dels estudiants dels grups M-3 i T-1 de l’assignatura Botànica Farmacèutica durant els mesos de febrer a maig del curs 2014-15 com a resultat final del Projecte d’Innovació Docent «Jardins per a la salut: aprenentatge servei a Botànica farmacèutica» (codi 2014PID-UB/054). Tots els treballs s’han dut a terme a través de la plataforma de GoogleDocs i han estat tutoritzats pels professors de l’assignatura. L’objectiu principal de l’activitat ha estat fomentar l’aprenentatge autònom i col·laboratiu en Botànica farmacèutica. També s’ha pretès motivar els estudiants a través del retorn de part del seu esforç a la societat a través d’una experiència d’Aprenentatge-Servei, deixant disponible finalment el treball dels estudiants per a poder ser consultable a través d’una Web pública amb la possibilitat de poder-ho fer in-situ en el propi jardí mitjançant codis QR amb un smartphone

Impact of COVID-19 outbreak on ischemic stroke admissions and in-hospital mortality in North-West Spain

Background and purpose Spain has been one of the countries heavily stricken by COVID-19. But this epidemic has not affected all regions equally. We analyzed the impact of the COVID-19 pandemic on hospital stroke admissions and in-hospital mortality in tertiary referral hospitals from North-West Spain.Methods Spanish multicenter retrospective observational study based on data from tertiary hospitals of the NORDICTUS network. We recorded the number of patients admitted for ischemic stroke between 30 December 2019 and 3 May 2020, the number of IVT and EVT procedures, and in-hospital mortality.Results In the study period, 2737 patients were admitted with ischemic stroke. There was a decrease in the weekly mean admitted patients during the pandemic (124 vs. 173, p<0.001). In-hospital mortality of stroke patients increased significantly (9.9% vs. 6.5%, p = 0.003), but there were no differences in the proportion of IVT (17.3% vs. 16.1%, p = 0.405) or EVT (22% vs. 23%, p = 0.504).Conclusion We found a decrease in the number of ischemic stroke admissions and an increase in in-hospital mortality during the COVID-19 epidemic in this large study from North-West Spain. There were regional changes within the network, not fully explained by the severity of the pandemic in different regions.Peer reviewe

Impact of COVID‐19 outbreak in reperfusion therapies of acute ischemic stroke in North‐West Spain

Since the first reported case in early December 2019, severe acute respiratory coronavirus 2 (SARS‐CoV‐2) infection, known as Coronavirus Disease 2019 (COVID‐19), has spread all over the world (1‐3). As of June 4th, more than 6 million cases and 350,000 deaths have been reported worldwide (4). Treating these patients and containing the outbreak has become the main priority in any center, arising the risk of possible collateral damage on patients with other acute diseases due to the collapse of the pre‐ and intra‐hospital emergency care systems.Peer reviewe

Oral Anticoagulation and Risk of Symptomatic Hemorrhagic Transformation in Stroke Patients Treated With Mechanical Thrombectomy: Data From the Nordictus Registry

Introduction: We aimed to evaluate if prior oral anticoagulation (OAC) and its type determines a greater risk of symptomatic hemorrhagic transformation in patients with acute ischemic stroke (AIS) subjected to mechanical thrombectomy. Materials and Methods: Consecutive patients with AIS included in the prospective reperfusion registry NORDICTUS, a network of tertiary stroke centers in Northern Spain, from January 2017 to December 2019 were included. Prior use of oral anticoagulants, baseline variables, and international normalized ratio (INR) on admission were recorded. Symptomatic intracranial hemorrhage (sICH) was the primary outcome measure. Secondary outcome was the relation between INR and sICH, and we evaluated mortality and functional outcome at 3 months by modified Rankin scale. We compared patients with and without previous OAC and also considered the type of oral anticoagulants. Results: About 1.455 AIS patients were included, of whom 274 (19%) were on OAC, 193 (70%) on vitamin K antagonists (VKA), and 81 (30%) on direct oral anticoagulants (DOACs). Anticoagulated patients were older and had more comorbidities. Eighty-one (5.6%) developed sICH, which was more frequent in the VKA group, but not in DOAC group. OAC with VKA emerged as a predictor of sICH in a multivariate regression model (OR, 1.89 [95% CI, 1.01-3.51], p = 0.04) and was not related to INR level on admission. Prior VKA use was not associated with worse outcome in the multivariate regression model nor with mortality at 3 months. Conclusions: OAC with VKA, but not with DOACs, was an independent predictor of sICH after mechanical thrombectomy. This excess risk was associated neither with INR value by the time thrombectomy was performed, nor with a worse functional outcome or mortality at 3 months