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Nutrition Therapy in Critically Ill Patients with Obesity: An Observational Study
Full text linkEnfermedad crítica; Obesidad; Terapia nutricionalCaloric intake; Obesity; Nutrition therapyIngesta calòrica; Obesitat; Teràpia nutricionalCritically ill patients with obesity (PwO) have anthropometric characteristics that can be associated with different nutritional-metabolic requirements than other critically ill patients. However, recommendations regarding nutrition delivery in PwO are not clearly established among the different published clinical practice guidelines (CPGs). Our main aim was to evaluate the impact of energy and protein intake in critically ill PwO.
A multicenter (n = 37) prospective observational study was performed. Adult patients requiring medical nutrition therapy (MNT) were included, and PwO (BMI ≥ 30 Kg·m
525 patients were included, of whom 150 (28.6%) had obesity. The energy delivery was considered inadequate (<11 Kcal/Kg/d) in 30.7% (n = 46) and adequate (≥11 Kcal/Kg/d) in 69.3% (n = 104) of cases. PwO who received adequate energy delivery had greater use of the parenteral route and longer mean hospital stays (28.6 ± 26.1 vs. 39.3 ± 28.1;
PwO can frequently receive inadequate energy and protein delivery from MNT during an ICU stay, which may impact the short-term mortality of these critically ill patients. It is emerging to develop strategies to optimize MNT delivery in these patients, which may improve their outcomes. NCT Registry: 03634943.The present study was funded by the Spanish Society of Metabolism & Nutrition (SENPE: Sociedad Española de Nutrición y Metabolismo): Best Working Group Project Award at the SENPE National Congress in 2022
Cefalea secundaria a síndrome de encefalopatía posterior reversible: Una potencial secuela
Full text linkPosterior reversible encephalopathy syndrome; Headache; MigraineSíndrome de encefalopatía posterior reversible; Cefalea; MigrañaSíndrome d'encefalopatia posterior reversible; Cefalea; MigranyaIntroduction
Posterior reversible encephalopathy syndrome (PRES) is a neurological disorder consisting in cerebrovascular dysregulation with acute neurological symptoms, including headache. However, there is a paucity of data that point to headache as a sequela of PRES. We aimed to explore its prevalence, characteristics, and impact.
Methods
We retrospectively included all consecutive patients with PRES attended at our institution from April 2018 to January 2022. We collected demographic and clinico-radiological data from the acute phase. During a mean follow-up time of 16 (14) months, we assessed the presence of headache after PRES and evaluated its impact using validated questionnaires.
Results
Of the 27 cases detected, after excluding 16 patients (11 deceased and 5 lost to follow-up), we evaluated 11 patients with a mean age of 38 (14) years; 63.6% were female. After PRES resolution, 9/11 (81.8%) patients presented headache, with migraine-like features in 8/9 (88.9%). Seven patients completed validated questionnaires; on the Migraine Disability Assessment scale, 71.4% (5/7) had moderate–severe disability. The Short Form-36 Health Survey dimensions of general health, physical role, and vitality reflected a deterioration in the quality of life.
Conclusions
Our data suggest that headache is a potential sequela of PRES that could imply subsequent disability. Migraine-like features point to the existence of shared pathophysiological mechanisms with migraine, which may mainly involve vascular and endothelial functions; however, more studies are needed.Introducción
El síndrome de encefalopatía posterior reversible (PRES) se caracteriza por una desregulación cerebrovascular reversible, en el que la cefalea es un síntoma cardinal. Dado que la cefalea como secuela del PRES no ha sido sistemáticamente estudiada, nuestro objetivo fue explorar su prevalencia, características e impacto.
Métodos
Retrospectivamente se registraron 27 pacientes con diagnóstico de PRES entre abril-2018 y enero-2022. Se describieron las características demográficas y clínicorradiológicas de la hospitalización. Se evaluó la presencia de cefalea e impacto mediante la escala Migraine Dissability Assessment Scale (MIDAS), Headache Impact Test (HIT-6), SF36_v2, Hospital Anxiety and Depression Scale (HADS) y Pittsburgh Sleep Quality Index (PSQI).
Resultados
Se incluyeron 27 pacientes con diagnóstico de PRES, tras excluir la mortalidad intrahospitalaria y las pérdidas de seguimiento, se evaluaron 11 pacientes con una edad media de 38 ± 14 años, el 63,6% eran mujeres. De ellos, 3/11 (27,3%) tenían antecedentes de migraña episódica de baja frecuencia. Tras la resolución del PRES, 9/11 pacientes (81,8%) tenían cefalea, siendo episódica (8/9, 88,9%) y de características migrañosas (8/9, 88,9%). Siete pacientes completaron la totalidad de las escalas. El 71,4% (5/7) presentaba una discapacidad moderada/grave en la escala MIDAS. En la SF36_v2, las dimensiones de salud general, rol físico y vitalidad reflejaban un deterioro en la calidad de vida. A parte de la cefalea, no se reportaron otras secuelas relevantes salvo epilepsia estructural en 2 pacientes. Ningún paciente recibió tratamiento específico para la cefalea.
Conclusión
Nuestros datos sugieren una elevada prevalencia de cefalea como potencial secuela del PRES. Las características migrañosas podrían sugerir un mecanismo fisiopatológico común con la migraña que involucre disfunción vasculo-endotelial
Influencia de los contaminantes atmosféricos exteriores en el asma: una revisión narrativa
Full text linkAsthma; Air pollution; Childhood asthmaAsma; Contaminación del aire; Asma infantilAsma; Contaminació de l'aire; Asma infantilAsthma is a chronic lung disease affecting individuals across all age groups, contributing to significant morbidity and mortality. Exposure to air pollutants is a major factor in both the development and exacerbation of asthma symptoms. This study reviewed the impact of key air pollutants, including nitrogen dioxide (NO2), particulate matter with a diameter ≤2.5 μm (PM2.5) or ≤10 μm (PM10), and ozone (O3), on asthma outcomes. Our analysis of 20 studies showed significant associations between exposure to these pollutants and increased asthma incidence and prevalence, particularly in children. Specifically, pollutants such as elemental carbon (EC), benzene, NO2, PM10, and sulfur dioxide (SO2) were found to be significantly associated with asthma development in children, while NO2 and PM2.5 were linked to asthma exacerbations in both children and adults. Additionally, hospitalizations and emergency room visits were positively correlated with exposure to PM2.5 and O3 in both children and adults, and the elderly showed significant associations with O3 exposure. Although asthma-related mortality was not directly linked to specific pollutants, a few studies indicated a broader association between exposure to pollutants like NO2 and PM2.5 and increased overall mortality. These findings highlight the importance of reducing exposure to outdoor air pollutants to mitigate asthma risk and improve public health outcomes, particularly in vulnerable populations like children and the elderly.El asma es una enfermedad pulmonar crónica que afecta a personas de todas las edades, contribuyendo a una morbimortalidad significativa. La exposición a contaminantes atmosféricos es un factor clave tanto en el desarrollo como en la exacerbación de los síntomas del asma. Este estudio revisa el impacto de los principales contaminantes del aire, incluyendo dióxido de nitrógeno (NO2), material particulado con un diámetro ≤ 2,5 μm (PM2,5) o ≤ 10 μm (PM10), y ozono (O3), sobre los resultados del asma. Nuestro análisis de 20 estudios muestra asociaciones significativas entre la exposición a estos contaminantes y un aumento en la incidencia y prevalencia del asma, especialmente en niños. En particular, contaminantes como el carbono elemental (EC), el benceno, el NO2, el PM10 y el dióxido de azufre (SO2) se asociaron significativamente con el desarrollo del asma en niños, mientras que el NO2 y el PM2,5 se vinculaban con exacerbaciones del asma tanto en niños como en adultos. Además, se encontraron correlaciones positivas entre las hospitalizaciones y las visitas a urgencias con la exposición a PM2,5 y O3 en niños y adultos, y los ancianos mostraron asociaciones significativas con la exposición a O3. Aunque la mortalidad relacionada con el asma no se vinculó directamente a contaminantes específicos, algunos estudios indicaron una asociación más amplia entre la exposición a contaminantes como NO2 y PM2,5 y un aumento en la mortalidad general. Estos hallazgos resaltan la importancia de reducir la exposición a contaminantes atmosféricos exteriores para mitigar el riesgo de asma y mejorar los resultados en salud pública, especialmente en poblaciones vulnerables como niños y ancianos.This review was sponsored and funded by Chiesi España S.A. which covered the design of the strategy for the review, its implementation, the analysis of the results and the editorial support for medical writing. DE is a researcher supported by the Rio Hortega program from Instituto de Salud Carlos III (CM23/00174)
Guia per adequar la utilització de proves diagnòstiques en pediatria en l’atenció primària de la GAPiC Delta
Full text linkProves diagnòstiques; Pediatria; Atenció primàriaPruebas diagnósticas; Pediatría; Atención primariaDiagnostic Techniques and Procedures; Pediatrics; Primary Health CareLa guia proporciona criteris i recomanacions per a l’ús adequat de proves diagnòstiques en pediatria en l’atenció primària, amb l’objectiu de millorar l’eficiència clínica. Inclou fitxes específiques per a proves de diferents especialitats, adaptades al context de la Gerència d'Atenció Primària i a la Comunitat Delta del Llobregat
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines
Full text linkAlagille syndrome; Cholestasis; GeneticsSíndrome de Alagille; Colestasis; GenéticaSíndrome d'Alagille; Colèstasi; GenèticaBackground & Aims
Alagille syndrome (ALGS) is a rare, autosomal dominant disorder with high phenotypic heterogeneity. Disease-causing variants are primarily identified in Jagged1 (JAG1), with fewer reported in NOTCH2. JAG1 variants cause disease through a mechanism of haploinsufficiency, but the mechanism for NOTCH2 variants is not completely understood, making classification of variants more challenging. Using a large, international patient cohort acquired through the Global ALagille Alliance (GALA) study, we sought to improve classification of NOTCH2 variants and study phenotypic differences between NOTCH2- and JAG1-related disease.
Methods
Clinical and molecular data from 952 individuals with ALGS in GALA were analysed and disease features compared between those with JAG1 (n = 902) and NOTCH2 (n = 34) variants. Previously reported and newly identified NOTCH2 variants were reinterpreted based on disease-specific modifications to the American College of Medical Genetics and Genomics (ACMG) guidelines. The Kaplan–Meier method was utilised to assess native liver survival (NLS) and overall survival (OS) and gene comparisons were made with the log-rank test.
Results
Thirty NOTCH2 variants, including 18 novel variants, were identified and classified in our GALA cohort. Phenotypic analyses revealed a significantly lower incidence of characteristic facies, posterior embryotoxon, cardiac involvement and butterfly vertebrae in individuals with NOTCH2 variants compared to those with JAG1 variants (p < 0.001). No differences were identified in NLS or OS. Review of 61 previously reported NOTCH2 variants resulted in the re-classification of 19 likely pathogenic or pathogenic to VOUS (31.1%) with less than half retaining their originally published classification (34.4%; n = 21).
Conclusions
We report on a large global study on NOTCH2 genetics and phenotype, which increases the number of reported NOTCH2 variants by 30%. All variants were reclassified using current guidelines, and comparison of the JAG1 and NOTCH2 cohorts demonstrates clear phenotypic divergence between these groups. These data suggest that reliance on classical clinical phenotyping may miss patients with NOTCH2-related disease and supports an inclusive approach to genetic testing.We would like to thank the following agencies for their generous funding support: The Alagille Syndrome Alliance, Mirum Pharmaceuticals Inc. and Ipsen, who provided unrestricted educational grants to the Hospital for Sick Children (SickKids Foundation). MAG and NBS are supported by the NIH (R01DK134585 and R01DK140468) and the Evelyn Willing Bromley Chair in Paediatric Pathology at The Children's Hospital of Philadelphia. The National Natural Science Foundation of China (81873543 and 81570468) provided funding to the Children's Hospital of Fudan University, The Centre for Paediatric Liver Diseases, Shanghai, China
Informe sobre consum problemàtic i conseqüències: consum de fàrmacs amb potencial d'abús; any 2023
Full text linkFàrmacs; Consum problemàtic; Prescripció mèdicaMedicines; Problematic consumption; Medical prescriptionFármacos; Consumo problemático; Prescripción médicaEs descriu i s’analitza el consum de fàrmacs durant l’any 2022 que necessiten la prescripció del personal mèdic i dels quals potencialment es pot fer un ús abusiu o un mal ús, en funció del sexe i del grup d’edat, i se n’avaluen les tendències corresponents. Els grups de fàrmacs que s’han analitzat són: opioides, ansiolítics, hipnòtics, antidepressius, analgèsics usats per al dolor neuropàtic i l’epilèpsia i estimulants del sistema nerviós central (SNC)
Real-World Use of COMT Inhibitors in the Management of Patients with Parkinson’s Disease in Spain Who Present Early Motor Fluctuations: Interim Results from the REONPARK Study
Full text linkCOMT-inhibitors; Early fluctuations; Parkinson’s diseaseInhibidors COMT; Malaltia de Parkinson; Fluctuacions motoresInhibidores COMT; Enfermedad de Parkinson; Fluctuaciones motorasObjective: We aimed to analyze the real-world use of COMT inhibitors associated with levodopa in patients with Parkinson’s disease (PD) who present early fluctuations and to explore whether early COMT inhibition optimizes treatment outcomes. Methods: REONPARK is an ongoing 2-year prospective observational study. We included patients diagnosed with PD who presented signs of end-of-dose motor fluctuations for <2 years and started COMT inhibitors according to clinical practice. Outcomes included the clinician and patient global impression of change (CGI-C, PGI-C), the Movement Disorder Society-sponsored revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), the Parkinson’s Disease Questionnaire-8 (PDQ-8), Non-Motor Symptoms Scale (NMSS), 19-Symptom Wearing-off Questionnaire (WOQ-19), and safety. We present a pre-planned interim analysis (cut-off date 3 July 2023) of patients who completed the first 3 months of follow-up. Results: Seventy patients were analyzed (mean levodopa dose at inclusion 484.8 mg; duration of motor fluctuations 0.6 years). In all cases, COMT inhibition was initiated with opicapone, and 81% maintained a stable levodopa dose at 3 months. After 3 months of treatment with opicapone, 73.5% and 62.8% of patients improved on CGI-C and PGI-C, respectively. MDS-UPDRS scores improved significantly with a mean change from baseline of −3.3 ± 7.7 (p < 0.001) for Part III and −1.3 ± 1.7 (p < 0.001) for Part IV. The mean OFF time decreased from 3.7 ± 2.6 h at baseline to 2.2 ± 2.3 h, and 20.6% of patients no longer experienced OFF periods. Patients experiencing no impact of fluctuations increased from 10% to 45.6%. Conclusions: In PD patients with early fluctuations, three months of opicapone reduced the OFF time and improved functional outcomes, suggesting potential benefits in the early stages.This research was funded by Laboratorios Bial S.A
L'atròfia muscular espinal [cartell]
No full textAtròfia muscular espinal; Cribratge neonatal; Prova del talóAtrófia muscular espinal; Cribado neonatal; Prueba del talónSpinal muscular atrophy; Newborn screening; Heel prick testAquest cartell, adreçat als professionals sanitaris, descriu les primeres senyals d’alerta per a la detecció de l’atròfia muscular espinal en nadons.Este cartel, dirigido a los profesionales sanitarios, describe las primeras señales de alerta para la detección de la atrofia muscular espinal en bebés.This poster, aimed at healthcare professionals, outlines the early warning signs for the detection of spinal muscular atrophy in infants
Small and Stable Pancreatic Cysts Are Reassuring During Surveillance: Results From the PACYFIC Trial
Full text linkPancreatic cancer; Pancreatic cyst; SurveillanceCáncer de páncreas; Quiste pancreático; VigilanciaCàncer de pàncrees; Quist pancreàtic; VigilànciaBackground
Pancreatic cysts are increasingly discovered on imaging studies performed for unrelated conditions. Currently, surveillance of these lesions poses a substantial burden on patients, and health care recourses. We hypothesized that individuals with small and stable cysts have a diminutive risk of progressing to high-grade dysplasia (HGD) or pancreatic cancer (PC) that is similar to that in the general population.
Methods
This nested PACYFIC-study is a collaboration among 44 centers in Europe and Northern-America, and investigates the risk of HGD and PC for different cyst sizes and growth rates in participants without baseline worrisome features (WF) or high-risk stigmata (HRS).
Results
Of the 2369 PACYFIC participants, 975 met the inclusion criteria, with a mean age of 67 years (SD 13) and 65% being female. Of these, 438 individuals (45%) had a baseline small cyst size ( 0.05). Slow growth was protective against the development of WF or HRS (HR 0.4 [0.2–0.6], p < 0.001) and HGD or PC (HR 0.04 [95% CI 0.02–0.12], p < 0.001). Individuals with small, stable sized cysts without baseline WF or HRS did not have a higher risk of HGD or PC than the general population (standardized incidence ratio [SIR] 1.13 [95% CI 0.01–6.30]).
Conclusion
Cyst size < 15 mm and growth rate < 2.5 mm/year appear to be “reassuring” features associated with a negligible risk of developing WF or HRS and HGD or PC. For cysts with these characteristics—and without baseline WF or HRS—less intensive surveillance (than currently recommended) or even cessation may be appropriate
Impact of asthma age of onset or duration on efficacy of dupilumab in moderate-to-severe type 2 asthma
Full text linkAnnualized severe exacerbation rates; Asthma biologics; Forced expiratory volumeTasas anualizadas de exacerbación grave; Productos biológicos para el asma; Volumen espiratorio forzadoTaxes anualitzades d'exacerbacions greus; Productes biològics per a l'asma; Volum espiratori forçatObjective
Age of asthma onset is critical for determining heterogeneous asthma phenotypes. How onset and duration affect therapeutic response is not well understood. Phase 3 QUEST (NCT02414854) and open-label extension TRAVERSE (NCT02134028) studies demonstrated dupilumab’s efficacy up to three years in patients ≥12 years with uncontrolled, moderate-to-severe asthma. We assessed how age of asthma onset and asthma duration affect clinical efficacy of dupilumab in patients with moderate-to-severe type 2 inflammatory asthma.
Methods
This post hoc analysis included patients with type 2 asthma from QUEST who enrolled in TRAVERSE. Annualized severe exacerbation rates (AER), change from parent study baseline (PSBL) in pre-bronchodilator forced expiratory volume in 1 s (FEV1), and five-item Asthma Control Questionnaire (ACQ-5) score were assessed according to asthma age of onset (40 years) and duration (<20 years, ≥20 years).
Results
In all subgroups, treatment with dupilumab through QUEST and TRAVERSE progressively reduced AER (TRAVERSE Week 48–96 range, 0.160–0.333), increased pre-bronchodilator FEV1 (TRAVERSE Week 96 change from PSBL range, 0.20–0.44 L), and reduced ACQ-5 scores (TRAVERSE Week 48 change from PSBL range, −1.63 to −1.84). In patients who received placebo during QUEST, treatment with dupilumab in TRAVERSE improved AER, FEV1, and ACQ-5 in all subgroups.
Conclusions
In patients with uncontrolled, moderate-to-severe type 2 asthma, treatment with dupilumab provides sustained, long-term exacerbation rate reductions and improvements in lung function and asthma control, across all subgroups, with higher reductions in AER and improvements in pre-bronchodilator FEV1 seen in patients with later onset or longer duration.Research sponsored by Sanofi and Regeneron Pharmaceuticals Inc. ClinicalTrials.gov Identifiers: NCT02414854 and NCT 02134028