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Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature.
No full text20.500.12530/87908It is estimated that about 5% of the primary aldosteronism (PA) cases are of hereditary origin (familial hyperaldosteronism, FH). To date, 4 forms of FH have been reported. However, in general little is known about the genetic causes that lead to the development of PA. This work aimed to determine the rate of genetic testing for FH in the SPAIN-ALDO Registry and to describe the clinical characteristics of patients with FH. In addition, a literature review of reports of FH cases was performed. A retrospective multicenter study of PA in patients followed in 35 Spanish tertiary hospitals (SPAIN-ALDO Registry). Twenty-five of the 855 patients (3%) with PA included in the registry underwent genetic testing for FH, with complete results available for only 24 patients. However, we found that there were 57 patients who met the criteria for performing a genetic study of PA. Only 8 out of these 57 patients were genetically tested (14.0%), while the reasons to perform a genetic study in the remaining 17 genetically studied cases were quite heterogeneous. A positive result for FH was found in only one case for FH type III (KCNJ5 pathogenic variant). A systematic review of the literature was performed and identified a total of 25 articles reporting 246 patients with FH type I, 12 articles reporting 72 patients with FH type II, 14 articles reporting 29 cases of FH type III, and 3 articles reporting 12 patients with FH type IV. The genetic study of FH is often scarce in real-world clinical practice, as 86% of patients with criteria to undergo genetic study were not evaluated in our cohort. Nevertheless, FH is an uncommon cause of PA, representing only 0.2% of cases in the SPAIN-ALDO Registry, although its prevalence may be as high as 4% among suspected cases
Fomento del Aprendizaje Colaborativo en Fisioterapia: diseño de una comunidad virtual de práctica para la ciencia del dolor
No full textOngoing professional development is crucial for healthcare providers to maintain and enhance clinical
skills, while cooperative learning promotes interdisciplinary collaboration, leading to improved patient
care. Communities of Practice (CoP) represent a structured method for such collaborative learning, yet
are underutilized in the physiotherapy sector, particularly at a national scale. This study aimed to design
a virtual Community of Practice (vCoP) focused on Pain Science in Physiotherapy in spanish, facilitating
accessible, asynchronous interaction. Recruitment occurred through announcements on Twitter and
Instagram, attracting 211 participants to a Telegram group for the vCoP. Then, a survey was conducted
to determine the preferred characteristics of the vCoP among potential participants, targeting topics like
profile of participants, credibility, confidence, content type and publication frequency. We obtained 157
valid survey responses. Respondents showed a high confidence profile, reporting confidence in the
content that they shared, with a 3.08 (SD=0.56) in up to 4 points Likert scale, feeling comfortable with
sharing knowledge with colleagues, with 3.54 (SD= 0.59), even when they wouldn’t know them (3.29,
SD= 0.7). Regarding contents, they preferred mainly recent scientific papers about the topic, with 3.81
(SD=0.41), but also digital resources for professionals (3.64, SD=0.56) and for patients (3.72, SD=0.52).
They reported they would prefer to participate in the vCoP by sharing knowledge through discussions
and comments on other participant’s posts (3.20, SD=0.63), rather than post or add contents themselves
(2.83, SD=0.69), or reading but without contribution (2.83, SD=0.92). Regarding the values of the vCoP,
respondents highlighted the value of the contents offered (3.57, SD=0.74). They preferred updates once
a week or more often (93.6% or respondents, being 2-3 times a week the most selected answer, with a
37.6%) and their frequency of interaction slightly less frequent (94.9% selected once every 10 days or
more often, being once a week the most selected answer, with a 29.9%). These results allowed shaping
the final vCoP framework. Limitations include potential sampling bias due to the recruitment platforms
and digital competences requirements. Despite these limitations, the findings provide valuable insights
for developing virtual cooperative learning spaces in the physiotherapy field.
El desarrollo profesional continuo es crucial para que los proveedores de atención sanitaria mantengan y mejoren sus habilidades clínicas, mientras que el aprendizaje cooperativo promueve la colaboración interdisciplinaria, lo que conduce a una mejor atención al paciente. Las Comunidades de Práctica (CoP) representan un método estructurado para este aprendizaje colaborativo, pero están infrautilizadas en el sector de la fisioterapia, especialmente a nivel nacional. Este estudio tuvo como objetivo diseñar una Comunidad de Práctica virtual (vCoP) centrada en la Ciencia del Dolor en Fisioterapia en español, facilitando una interacción accesible y asincrónica.
El reclutamiento se realizó mediante anuncios en Twitter e Instagram, atrayendo a 211 participantes a un grupo de Telegram para la vCoP. Posteriormente, se llevó a cabo una encuesta para determinar las características preferidas de la vCoP entre los posibles participantes, abordando temas como el perfil de los participantes, credibilidad, confianza, tipo de contenido y frecuencia de publicación. Obtuvimos 157 respuestas válidas.
Los encuestados mostraron un alto perfil de confianza, informando confianza en el contenido que compartían, con una puntuación de 3,08 (DE=0,56) en una escala Likert de hasta 4 puntos, sintiéndose cómodos al compartir conocimientos con colegas, con 3,54 (DE=0,59), incluso cuando no los conocían (3,29, DE=0,7). En cuanto a los contenidos, prefirieron principalmente artículos científicos recientes sobre el tema, con 3,81 (DE=0,41), pero también recursos digitales para profesionales (3,64, DE=0,56) y para pacientes (3,72, DE=0,52).
Indicaron que preferirían participar en la vCoP compartiendo conocimientos mediante discusiones y comentarios en publicaciones de otros participantes (3,20, DE=0,63), más que publicando o añadiendo contenidos ellos mismos (2,83, DE=0,69), o leyendo sin contribuir (2,83, DE=0,92). En cuanto a los valores de la vCoP, los encuestados destacaron el valor de los contenidos ofrecidos (3,57, DE=0,74). Prefirieron actualizaciones una vez por semana o con mayor frecuencia (93,6% de los encuestados, siendo 2-3 veces por semana la respuesta más seleccionada, con un 37,6%) y su frecuencia de interacción ligeramente menos frecuente (94,9% seleccionó una vez cada 10 días o más a menudo, siendo una vez por semana la respuesta más seleccionada, con un 29,9%).
Estos resultados permitieron dar forma al marco final de la vCoP. Las limitaciones incluyen un posible sesgo de muestreo debido a las plataformas de reclutamiento y los requisitos de competencias digitales. A pesar de estas limitaciones, los hallazgos proporcionan información valiosa para desarrollar espacios virtuales de aprendizaje cooperativo en el ámbito de la fisioterapia
Hydrosalpinx treatment before in-vitro fertilization: systematic review and network meta-analysis.
No full text20.500.12530/87908To compare the safety and effectiveness of different methods, both ablative and non-ablative, to treat hydrosalpinx in infertile patients before in-vitro fertilization embryo transfer (IVF-ET) via a systematic review and network meta-analysis (NMA). A structured literature search was conducted in common citation databases. Eligibility criteria included peer-reviewed randomized controlled trials (RCTs) or cohort studies comparing the effectiveness and/or safety of different hydrosalpinx treatments, including salpingectomy, laparoscopic proximal tubal occlusion (LTO), insertion of an intratubal device (ITD), ultrasound-guided aspiration, sclerotherapy and expectant management. Primary outcomes were live birth, ongoing pregnancy and clinical pregnancy. Miscarriage, ectopic pregnancy and procedural complications were considered as secondary outcomes. The main NMA included only RCTs, while observational studies were included in a secondary aggregate NMA. Pooled effects were summarized as odds ratios (ORs) with 95% CI for direct and indirect comparisons, derived from random-effects models. Imprecision of NMA estimates was assessed by comparison of their 95% CIs with predefined thresholds for effect size considered to represent clinical relevance (OR 1.1). Heterogeneity for NMA findings was estimated using the variance of the distribution of the underlying treatment effects (τ2), expressed as a 95% prediction interval. Surface under the cumulative ranking curve (SUCRA) was used to predict relative treatment rankings for each outcome. The main analysis included nine RCTs, while an additional 17 observational studies were incorporated into the aggregate analysis. The NMA of RCTs revealed no significant differences in live birth rate between hydrosalpinx treatment methods, with LTO achieving the highest SUCRA value (0.9). Salpingectomy and ultrasound-guided aspiration significantly increased the ongoing pregnancy rate compared with no treatment (OR, 4.35 (95% CI, 1.70-11.14) and 2.80 (95% CI, 1.03-7.58), respectively), with salpingectomy having the highest SUCRA value (0.9). Clinical pregnancy rate was significantly higher following salpingectomy (OR, 2.24 (95% CI, 1.30-3.86)) and LTO (OR, 2.55 (95% CI, 1.20-5.51)) compared with no treatment, despite some heterogeneity; LTO had the highest SUCRA value (0.8). NMA showed no significant differences in secondary outcomes between treatments. Aggregate NMA indicated that sclerotherapy significantly increased the live birth rate compared with no treatment. Higher ongoing pregnancy rate was observed in patients treated with salpingectomy, ultrasound-guided aspiration and LTO compared to untreated patients, with salpingectomy having the highest SUCRA value (0.9). Except for ITD insertion, all interventions increased the clinical pregnancy rate compared with no treatment. LTO had a greater effect on clinical pregnancy rate compared to ultrasound-guided aspiration, with no significant differences in other pairwise comparisons. NMA ranked LTO as the most effective treatment for increasing the clinical pregnancy rate and reducing the miscarriage rate, while sclerotherapy was deemed safer with regard to the ovarian response to IVF stimulation. This NMA fails to support the effectiveness of any hydrosalpinx treatment to improve the live birth rate following IVF-ET, although the beneficial effect of salpingectomy and ultrasound-guided aspiration on ongoing pregnancy rate and of salpingectomy and LTO on clinical pregnancy rate reinforces current recommendations. Based on the aggregated analysis, sclerotherapy could be an effective alternative to conventional laparoscopic techniques, with a favorable safety profile. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology
How do patient-reported outcome measures affect treatment intensification and patient satisfaction in the management of psoriatic arthritis? A cross sectional study of 503 patients.
No full text20.500.12530/87912The AsseSSing Impact in pSoriatic Treatment (ASSIST) study investigated prescribing in routine PsA care and whether the patient-reported outcome-PsA Impact of Disease questionnaire (PsAID-12)-impacted treatment. This study also assessed a range of patient and clinician factors and their relationship to PsAID-12 scoring and treatment modification. Patients with PsA were selected across the UK and Europe between July 2021 and March 2022. Patients completed the PsAID questionnaire and the results were shared with their physician. Patient characteristics, disease activity, current treatment methods, treatment strategies, medication changes and patient satisfaction scores were recorded. A total of 503 patients were recruited. Some 36.2% had changes made to treatment, and 88.8% of these had treatment escalation. Overall, the mean PsAID-12 score was higher for patients with treatment escalation; increase in PSAID-12 score is associated with increased odds of treatment escalation (odds ratio 1.58; P This study highlights multiple factors impacting treatment decision-making for individuals with PsA. PsAID-12 scoring correlates with multiple measures of disease severity and odds of treatment escalation. However, most clinicians reported that the PsAID-12 did not influence treatment escalation decisions. Psoriatic Arthritis Impact of Disease (PsAID) scoring could be used to increase confidence in treatment de-escalation
Unveiling the Mechanism of Lurbinectedin's Action and Its Potential in Combination Therapies in Small Cell Lung Cancer.
No full text20.500.12530/87910Lurbinectedin is a selective inhibitor of oncogenic transcription approved for the treatment of adult patients with metastatic small cell lung cancer with disease progression on or after platinum-based chemotherapy. Preclinical data provide evidence for lurbinectedin exerting its actions in a unique manner that involves oncogenic transcription inhibition, DNA damage, reshaping of the tumor microenvironment, and inducing anticancer immunity. Understanding the mechanism of action has facilitated the rational combination of lurbinectedin and anticancer therapies with complementary modes of action, in order to obtain synergistic effects that could potentially lead to improved efficacy. This review evaluates the mechanism of action for lurbinectedin and provides an overview of the therapeutic landscape with regards to lurbinectedin combination therapies for the treatment of small cell lung cancer based on data from preclinical and clinical studies
Systematic literature review and meta-analysis informing the EULAR points to consider on the initiation of targeted therapies in patients with inflammatory arthritis and a history of cancer.
No full text20.500.12530/87858Targeted therapies have been associated with potential risk of malignancy, which is a common concern in daily rheumatology practice in patients with inflammatory arthritis (IA) and a history of cancer. To perform a systematic literature review to inform a Task Force formulating EULAR points to consider on the initiation of targeted therapies in patients with IA and a history of cancer. Specific research questions were defined within the Task Force before formulating the exact research queries with a librarian. We included studies reporting a relative risk measure of patients with a history of cancer initiating a targeted therapy or a conventional synthetic disease-modifying antirheumatic drug (csDMARD), regardless of the time since diagnosis of cancer. All relevant studies included in PubMed or Embase up to 15 July 2022 were included. Two reviewers independently performed standardised article selection, data extraction, synthesis and risk of bias assessment. 14 published articles and one ACR abstract fulfilled the inclusion criteria. All studies were high-quality observational studies, representing a median follow-up from treatment initiation of 4.52 years among 4428 patients and 15 062 patient-years of follow-up for new or recurrent cancer. All patients had a history of cancer, most frequently solid cancer, most frequently receiving treatment for rheumatoid arthritis and most frequently treated with tumour necrosis factor-alpha inhibitors. Across these studies, the overall HR of new incident cancer or cancer recurrence was 0.90 (95% CI 0.74 to 1.10) for patients receiving a targeted therapy versus a csDMARD. Overall, the targeted therapies and clinical contexts covered by the included studies were not associated with an increased risk of new incident cancer or cancer recurrence as compared with csDMARDs
Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature.
No full text20.500.12530/87854It is estimated that about 5% of the primary aldosteronism (PA) cases are of hereditary origin (familial hyperaldosteronism, FH). To date, 4 forms of FH have been reported. However, in general little is known about the genetic causes that lead to the development of PA. This work aimed to determine the rate of genetic testing for FH in the SPAIN-ALDO Registry and to describe the clinical characteristics of patients with FH. In addition, a literature review of reports of FH cases was performed. A retrospective multicenter study of PA in patients followed in 35 Spanish tertiary hospitals (SPAIN-ALDO Registry). Twenty-five of the 855 patients (3%) with PA included in the registry underwent genetic testing for FH, with complete results available for only 24 patients. However, we found that there were 57 patients who met the criteria for performing a genetic study of PA. Only 8 out of these 57 patients were genetically tested (14.0%), while the reasons to perform a genetic study in the remaining 17 genetically studied cases were quite heterogeneous. A positive result for FH was found in only one case for FH type III (KCNJ5 pathogenic variant). A systematic review of the literature was performed and identified a total of 25 articles reporting 246 patients with FH type I, 12 articles reporting 72 patients with FH type II, 14 articles reporting 29 cases of FH type III, and 3 articles reporting 12 patients with FH type IV. The genetic study of FH is often scarce in real-world clinical practice, as 86% of patients with criteria to undergo genetic study were not evaluated in our cohort. Nevertheless, FH is an uncommon cause of PA, representing only 0.2% of cases in the SPAIN-ALDO Registry, although its prevalence may be as high as 4% among suspected cases
What knowledge do patients have about their treatment? "Do not do" strategies in the adequate use of drugs
No full text20.500.12530/8787
Characterisation of LGP2 complex multitranscript system in humans: role in the innate immune response and evolution from non-human primates.
No full text20.500.12530/87854Retinoic acid inducible gene I (RIG-I)-like receptors (RLRs), including RIG-I, MDA5 and LGP2, recognize viral RNA to mount an antiviral interferon (IFN) response RLRs share three different protein domains: C-terminal domain, DExD/H box RNA helicase domain, and an N-terminal domain with two tandem repeats (CARDs). LGP2 lacks tandem CARD and is not able to induce an IFN response. However, LGP2 positively enhances MDA5 and negatively regulates RIG-I signaling. In this study, we determined the LGP2 alternative transcripts in humans to further comprehend the mechanism of its regulation, their evolutionary origin, and the isoforms functionallity. The results showed new eight alternative transcripts in the samples tested. The presence of these transcripts demonstrated that the main mechanisms for the regulation of LGP2 expression are both by insertion of introns and by the loss of exons. The phylogenetic analysis of the comparison between sequences from exon 1 to exon 3 of humans and those previously described in non-human primates showed three well-differentiated groups (lineages) originating from gorillas, suggesting that the transspecies evolution has been maintained for 10 million years. The corresponding protein models (isoforms) were also established, obtaining four isoforms: one complete and three others lacking the C-terminal domain or this domain and the partial or total He2 Helicase domain, which would compromise the functionality of LGP2. In conclusion, this is the first study that elucidate the large genomic organization and complex transcriptional regulation of human LGP2, its pattern of sequence generation, and a mode of evolutionary inheritance across species
Interobserver and Intraobserver Agreement on the Treatment of Infantile Hemangiomas.
No full text20.500.12530/87909Although clinical practice guidelines exist for the treatment of infantile hemangiomas (IHs), recommendations are heterogeneous, and wide practice variations in IH management have been reported. To analyze the degree of agreement in treatment choices for IH among pediatric dermatologists in North America and Europe and assess whether there are differences across IH risk categories. This cross-sectional interrater and intrarater agreement study was conducted through a survey based on the Spanish Academy of Dermatology and Venereology IH prospective cohort. The survey used 50 vignettes of IH cases that were randomly selected from the cohort. It was administered twice in 2023, 1 month apart, to allow for interrater and intrarater agreement assessments. Data were analyzed in January 2024. The study involved pediatric dermatologists from North America (via the Pediatric Dermatology Research Alliance) and Europe (via the European Society of Pediatric Dermatologists). Participants were asked to choose 1 of 3 treatment options (propranolol, topical timolol, or observation) for each vignette. The primary outcome was the interrater agreement in treatment choices for IH cases, measured using κ statistics (Gwet AC1 coefficient). The global interobserver agreement among 90 pediatric dermatologists was fair (AC1, 0.38; 95% CI, 0.29-0.46). In North America (45 pediatricians), agreement was moderate (AC1, 0.41; 95% CI, 0.33-0.49), while in Europe (45 pediatricians) it was fair (AC1, 0.37; 95% CI, 0.28-0.46). The degree of agreement varied depending on the risk category of IH, with excellent agreement in high-risk IH and only moderate agreement in intermediate-risk and low-risk IHs. Propranolol was predominantly chosen for high-risk IH, while observation was most frequent for low-risk IH (55.9%). The second survey had 61 respondents, with no significant intrarater differences. The results of this survey study suggest that there is an important variability in the treatment of intermediate-risk and low-risk IH. The study findings support the need for more evidence regarding the role of topical timolol in IH treatment, which may help harmonize treatment approaches and improve consistency in IH management globally