To provide insight into the subclonal architecture and codependency patterns of the alterations in Waldenström's macroglobulinemia (WM), we performed single-cell mutational and protein profiling of ...eight patients. A custom panel was designed to screen for mutations and copy number alterations at the single-cell level in samples taken from patients at diagnosis (n=5) or at disease progression (n=3). Results showed that in asymptomatic WM at diagnosis, MYD88L265P was the predominant clonal alteration, while other events, if present, were secondary and subclonal to MYD88L265P. In symptomatic WM, clonal diversity was more evident, uncovering combinations of alterations that synergized to promote clonal expansion and dominance. At disease progression, a dominant clone was observed, sometimes accompanied by other less complex minor clones, which could be consistent with a clonal selection process. Clonal diversity was also reduced, probably due to the effect of treatment. Finally, we combined protein expression with mutational analysis to map somatic genotype with the immunophenotype. Our findings provide a comprehensive view of the clonality of tumor populations in WM and how clonal complexity can evolve and impact disease progression.
(1) Background: Transition is a planned movement of paediatric patients to adult healthcare systems, and its implementation is not yet established in all inflammatory bowel disease (IBD) units. The ...aim of the study was to evaluate the impact of transition on IBD outcomes. (2) Methods: Multicentre, retrospective and observational study of IBD paediatric patients transferred to an adult IBD unit between 2017-2020. Two groups were compared: transition (≥1 joint visit involving the gastroenterologist, the paediatrician, a programme coordinator, the parents and the patient) and no-transition. Outcomes within one year after transfer were analysed. The main variable was poor clinical outcome (IBD flare, hospitalisation, surgery or any change in the treatment because of a flare). Predictive factors of poor clinical outcome were identified with multivariable analysis. (3) Results: A total of 278 patients from 34 Spanish hospitals were included. One hundred eighty-five patients (67%) from twenty-two hospitals (65%) performed a structured transition. Eighty-nine patients had poor clinical outcome at one year after transfer: 27% in the transition and 43% in the no-transition group (
= 0.005). One year after transfer, no-transition patients were more likely to have a flare (36% vs. 22%;
= 0.018) and reported more hospitalisations (10% vs. 3%;
= 0.025). The lack of transition, as well as parameters at transfer, including IBD activity, body mass index < 18.5 and corticosteroid treatment, were associated with poor clinical outcome. One patient in the transition group (0.4%) was lost to follow-up. (4) Conclusion: Transition care programmes improve patients' outcomes after the transfer from paediatric to adult IBD units. Active IBD at transfer impairs outcomes.
Markers that allow for the selection of tailored treatments for individual patients with inflammatory bowel diseases (IBD) are yet to be identified. Our aim was to describe trends in real-life ...treatment usage. For this purpose, patients from the ENEIDA registry who received their first targeted IBD treatment (biologics or tofacitinib) between 2015 and 2021 were included. A subsequent analysis with Machine Learning models was performed. The study included 10,009 patients 71% with Crohn's disease (CD) and 29% with ulcerative colitis (UC). In CD, anti-TNF (predominantly adalimumab) were the main agents in the 1st line of treatment (LoT), although their use declined over time. In UC, anti-TNF (mainly infliximab) use was predominant in 1st LoT, remaining stable over time. Ustekinumab and vedolizumab were the most prescribed drugs in 2nd and 3rd LoT in CD and UC, respectively. Overall, the use of biosimilars increased over time. Machine Learning failed to identify a model capable of predicting treatment patterns. In conclusion, drug positioning is different in CD and UC. Anti-TNF were the most used drugs in IBD 1st LoT, being adalimumab predominant in CD and infliximab in UC. Ustekinumab and vedolizumab have gained importance in CD and UC, respectively. The approval of biosimilars had a significant impact on treatment.
Anti-tumor necrosis factor agents (anti-TNFs) are efficacious at preventing the postoperative recurrence (POR) of Crohn disease, as demonstrated in 2 randomized controlled trials. However, real-life ...data for infliximab or adalimumab in this setting are scarce. Our aim was to assess both the efficiency of anti-TNFs at preventing early POR of Crohn disease in clinical practice and the associated risk factors for POR.
Patients in whom anti-TNFs were prescribed for the prevention of POR within 3 months after ileocolonic resection and who had an endoscopic assessment within 18 months were identified from the ENEIDA registry. Clinical and endoscopic features were collected within 18 months after surgery.
In total, 152 patients were included (55 treated with infliximab, 97 with adalimumab, and 39% with concomitant immunosuppressants). Anti-TNF treatment was started after a median time of 29 days (IQR 13-44) after surgery. Eighty-two percent of patients had at least one risk factor for POR, and 82% had been exposed to anti-TNFs before the index surgery. Overall, 34% had endoscopic POR (as defined using a Rutgeerts endoscopic score > i1); 14% had advanced endoscopic POR (>i2); and 20% had clinical POR, with no differences between infliximab and adalimumab. In the multivariate analysis, only perianal disease (odds ratio 2.73, 95% confidence interval CI 1.26-5.91) and rectal involvement (odds ratio 2.79, 95% CI 1.09-7.14) were independent predictors of endoscopic POR.
In clinical practice, anti-TNFs for the prevention of POR of Crohn disease are frequently used in patients experienced with anti-TNFs and with concomitant immunosuppressants. The efficacy of infliximab and adalimumab for POR prevention is similar and in accordance with the results obtained in randomized controlled trials.
The management of nursing care regarding patients' vascular access is a priority. This study determines the contribution of the variables involved in the quality of care and maintenance of vascular ...access (VA) devices in admitted patients in the Valencian Community.
Using the STROBE statement, an observational, cross-sectional study was conducted on 1576 VA devices. Data were collected using the INCATIV Questionnaire. We performed a multivariate analysis of the questionnaire variables.
In total, 50% had a good or very good assessment of the VA condition. This was positively correlated with anatomical location, dressing type, dressing date record, use of needle-free connectors (NFCs), date of last dressing change, presence of phlebitis, visibility of the insertion site and characteristics of the dressing's condition (
< 0.001). The model indicated that the presence of phlebitis was the clearest predictor of a poor VA care assessment (OR = 20.579), followed by no visibility of the insertion site (OR = 14.209). Results also indicated that uncovered VA lumens or no NFCs used were related to a negative quality assessment.
By managing and controlling these variables, the likelihood of providing optimal care is ensured. This enables the establishment of a standardised care approach for all nursing professionals and the building of a new quality indicator.
El objetivo de este estudio fue analizar el proceso diagnóstico de los pacientes con fibrosis pulmonar idiopática en España, desde el inicio de los síntomas hasta el diagnóstico y tratamiento ...antifibrótico, en relación con la publicación de las sucesivas guías de práctica clínica.
Estudio multicéntrico, observacional, ambispectivo, en el que se analizaron los pacientes incluidos en el registro de la fibrosis pulmonar idiopática de la Sociedad Española de Neumología y Cirugía Torácica. Para ello se habilitó un cuaderno electrónico de recogida de datos en la web de la sociedad. Se recogieron variables sociodemográficas y clínicas al diagnóstico y seguimiento de los pacientes.
Desde enero de 2012 hasta diciembre de 2019 se incluyeron 1.064 pacientes, siendo finalmente analizados 929. El proceso diagnóstico varió en función del año en el que se realizó el diagnóstico y el patrón radiológico observado en la tomografía computarizada de alta resolución. En 244 (26,3%) pacientes, el diagnóstico se realizó con tomografía computarizada de alta resolución de tórax y evaluación clínica. La biopsia quirúrgica se utilizó hasta en el 50,2% de los casos diagnosticados antes del 2011, y en un 14,2% a partir de 2018. La mediana de tiempo que transcurre desde el inicio de los síntomas hasta el diagnóstico es de 360 días (RIC 120-720), siendo mayor de 2 años en el 21,0% de los pacientes. Recibieron tratamiento antifibrótico al 79,4% de los pacientes. El tiempo desde el diagnóstico hasta el inicio del tratamiento fue de 309±596,5 días, con una mediana de 49 (RIC 0-307).
El proceso diagnóstico, incluyendo el tiempo hasta el diagnóstico y el tipo de pruebas utilizadas, ha ido cambiando desde 2011 hasta 2019, probablemente debido el avance en la investigación clínica y la publicación de guías consenso diagnóstico-terapéuticas.
The objective of the study was to analyze the diagnostic process and the time until the start of treatment of patients with idiopathic pulmonary fibrosis in relation to the publication of successive clinical practice guide.
Multicenter, observational, ambispective study, in which patients includes in the idiopathic pulmonary fibrosis registry of the Spanish Society of Pulmonologist and Thoracic Surgery were analyzed. An electronic data collection notebook was enabled on the society's website. Sociodemographic and clinical variables were collected at diagnosis and follow-up of the patients.
From January 2012 to december 2019, 1064 patients were included in the registry, with 929 finally analyzed. The diagnosis process varied depending on the year in which it was performed, and the radiological pattern observed in the high-resolution computed tomography. Up to 26.3% of the cases (244) were diagnosed with chest high-resolution computed tomography and clinical evaluation. Surgical biopsy was used up to 50.2% of cases diagnosed before 2011, while it has been used in 14.2% since 2018. The median time from the onset of symptoms to diagnosis was 360 days (IQR 120-720), taking more than 2 years in the 21.0% of patients. A percentage of 79.4 of patients received antifibrotic treatment. The average time from diagnosis to the antifibrotic treatment has been 309±596.5 days, with a median of 49 (IQR 0-307).
The diagnostic process, including the time until diagnosis and the type of test used, has changed from 2011 to 2019, probably due to advances in clinical research and the publication of diagnostic-therapeutic consensus guidelines.
Resumen: Objetivo: El objetivo de este estudio fue analizar el proceso diagnóstico de los pacientes con fibrosis pulmonar idiopática en España, desde el inicio de los síntomas hasta el diagnóstico y ...tratamiento antifibrótico, en relación con la publicación de las sucesivas guías de práctica clínica. Material y métodos: Estudio multicéntrico, observacional, ambispectivo, en el que se analizaron los pacientes incluidos en el registro de la fibrosis pulmonar idiopática de la Sociedad Española de Neumología y Cirugía Torácica. Para ello se habilitó un cuaderno electrónico de recogida de datos en la web de la sociedad. Se recogieron variables sociodemográficas y clínicas al diagnóstico y seguimiento de los pacientes. Resultados: Desde enero de 2012 hasta diciembre de 2019 se incluyeron 1.064 pacientes, siendo finalmente analizados 929. El proceso diagnóstico varió en función del año en el que se realizó el diagnóstico y el patrón radiológico observado en la tomografía computarizada de alta resolución. En 244 (26,3%) pacientes, el diagnóstico se realizó con tomografía computarizada de alta resolución de tórax y evaluación clínica. La biopsia quirúrgica se utilizó hasta en el 50,2% de los casos diagnosticados antes del 2011, y en un 14,2% a partir de 2018. La mediana de tiempo que transcurre desde el inicio de los síntomas hasta el diagnóstico es de 360 días (RIC 120-720), siendo mayor de 2 años en el 21,0% de los pacientes. Recibieron tratamiento antifibrótico al 79,4% de los pacientes. El tiempo desde el diagnóstico hasta el inicio del tratamiento fue de 309 ± 596,5 días, con una mediana de 49 (RIC 0-307). Conclusiones: El proceso diagnóstico, incluyendo el tiempo hasta el diagnóstico y el tipo de pruebas utilizadas, ha ido cambiando desde 2011 hasta 2019, probablemente debido el avance en la investigación clínica y la publicación de guías consenso diagnóstico-terapéuticas. Abstract: Objective: The objective of the study was to analyze the diagnostic process and the time until the start of treatment of patients with idiopathic pulmonary fibrosis in relation to the publication of successive clinical practice guide. Material and methods: Multicenter, observational, ambispective study, in which patients includes in the idiopathic pulmonary fibrosis registry of the Spanish Society of Pulmonologist and Thoracic Surgery were analyzed. An electronic data collection notebook was enabled on the society's website. Sociodemographic and clinical variables were collected at diagnosis and follow-up of the patients. Results: From January 2012 to december 2019, 1064 patients were included in the registry, with 929 finally analyzed. The diagnosis process varied depending on the year in which it was performed, and the radiological pattern observed in the high-resolution computed tomography. Up to 26.3% of the cases (244) were diagnosed with chest high-resolution computed tomography and clinical evaluation. Surgical biopsy was used up to 50.2% of cases diagnosed before 2011, while it has been used in 14.2% since 2018. The median time from the onset of symptoms to diagnosis was 360 days (IQR 120-720), taking more than 2 years in the 21.0% of patients. A percentage of 79.4 of patients received antifibrotic treatment. The average time from diagnosis to the antifibrotic treatment has been 309 ± 596.5 days, with a median of 49 (IQR 0-307). Conclusions: The diagnostic process, including the time until diagnosis and the type of test used, has changed from 2011 to 2019, probably due to advances in clinical research and the publication of diagnostic-therapeutic consensus guidelines.
Background:
Inflammatory bowel disease (IBD) is associated with a considerable burden to the
patient and society. However, current data on IBD incidence and burden are limited
because of the paucity ...of nationwide epidemiological studies, heterogeneous designs, and
a low number of participating centers and sample size. The EpidemIBD study is a
large-scale investigation to provide an accurate assessment of the incidence of IBD in
Spain, as well as treatment patterns and outcomes.
Methods:
This multicenter, population-based incidence cohort study included patients aged
>18 years with IBD (Crohn’s disease, ulcerative colitis, or unclassified IBD)
diagnosed during 2017 in 108 hospitals in Spain, covering 50% of the Spanish population.
Each participating patient will attend 10 clinic visits during 5 years of follow up.
Demographic data, IBD characteristics and family history, complications, treatments,
surgeries, and hospital admissions will be recorded.
Results:
The EpidemIBD study is the first large-scale nationwide study to investigate the
incidence of IBD in Spain. Enrollment is now completed and 3627 patients are currently
being followed up.
Conclusions:
The study has been designed to overcome many of the limitations of previous European
studies into IBD incidence by prospectively recruiting a large number of patients from
all regions of Spain. In addition to epidemiological information about the burden of
IBD, the 5-year follow-up period will also provide information on treatment patterns,
and the natural history and financial burden of IBD.
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