The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic ...leukemia (ALL) Philadelphia (Ph)-positive patients. In this study, we present a novel DNA-based next-generation sequencing (NGS) methodology for KD ABL1 mutation detection and monitoring with a 1.0E-4 sensitivity. This approach was validated with a well-stablished RNA-based nested NGS method. The correlation of both techniques for the quantification of ABL1 mutations was high (Pearson r = 0.858, p < 0.001), offering DNA-DeepNGS a sensitivity of 92% and specificity of 82%. The clinical impact was studied in a cohort of 129 patients (n = 67 for CML and n = 62 for B-ALL patients). A total of 162 samples (n = 86 CML and n = 76 B-ALL) were studied. Of them, 27 out of 86 harbored mutations (6 in warning and 21 in failure) for CML, and 13 out of 76 (2 diagnostic and 11 relapse samples) did in B-ALL patients. In addition, in four cases were detected mutation despite BCR::ABL1 < 1%. In conclusion, we were able to detect KD ABL1 mutations with a 1.0E-4 sensitivity by NGS using DNA as starting material even in patients with low levels of disease.
Axial Spondyloarthritis: Can All Be Classified? Moreno Ramos, Manuel José; Moreno Martinez, Maria José; Linares Ferrando, Luis Francisco
Reumatología clinica (Barcelona),
January-February 2017, 2017-01-00, Letnik:
13, Številka:
1
Journal Article
Analizar la prevalencia de alteraciones psicológicas (síntomas de ansiedad y depresión) y evaluar su asociación con variables sociodemográficas, clínicas, capacidad funcional y dolor, en un grupo de ...pacientes con diagnóstico de espondilitis anquilosante revisados entre enero de 1995 y diciembre de 1997.
Estudio transversal en 115 pacientes con espondilitis anquilosante revisados ambulatoriamente. A todos los enfermos se les realizó una historia clínica y se valoró la capacidad funcional mediante el cuestionario Health Assessment Questionnaire validado para la espondilitis anquilosante (HAQEA), depresión mediante el cuestionario Geriatric Depression Scale (GDS) y ansiedad por el cuestionario State Trait Anxiety Inventory (STAI). Además, se realizaron determinaciones analíticas y de imagen (radiología).
La edad media de los pacientes era de 40 años y el 84% eran varones. La puntuación media del HAQEA fue de 1±0,7 (0-3 puntos). El 22% presentó síntomas de depresión y el 30% de ansiedad. Las variables que mejor explicaban la varianza de los síntomas de ansiedad y depresión fueron la capacidad funcional, el nivel de estudios y el índice de entesis.
Los síntomas de depresión y ansiedad están presentes en 1/3 de nuestros pacientes con espondilitis anquilosante y están influidos, principalmente, por la limitación funcional, entesis dolorosas y nivel de educación.
To analyse the prevalence of psychological disorders (anxiety and depression symptoms) and evaluate their association with sociodemographic, clinical, functional ability and pain, in ankylosing spondylitis patients reviewed between January 1995 and December 1997.
Cross-sectional study on 115 ankylosing spondylitis patients reviewed as outpatients. The medical history, functional capacity (Health Assessment Questionnaire modified for Ankylosing Spondylitis-HAQEA), depression (Geriatric Depression Scale-GDS), and anxiety (State-Trait Anxiety Inventory-STAI) was assessed. Laboratory and radiology tests were also performed.
The mean age of patients was 40 years, and 84% were male. The mean score using HAQEA was 1±0.7 (0-3 points), with 22% having symptoms of depression and 30% anxiety. The variables that best explained the variance in symptoms of anxiety and depression were functional ability, level of education, and entheses index.
Depression and anxiety are present in 1/3 of our patients with ankylosing spondylitis, and are mainly influenced by the functional limitation, painful entheses, and education.
No evidence-based therapy has yet been established for Takotsubo syndrome (TTS). Given the putative harmful effects of catecholamines in patients with TTS, beta-blockers may potentially decrease the ...intensity of the detrimental cardiac effects in those patients.
The purpose of this study was to assess the impact of beta-blocker therapy on long-term mortality and TTS recurrence.
The cohort study used the national Spanish Registry on TakoTsubo Syndrome (RETAKO). A total of 970 TTS post-discharge survivors, without pheochromocytoma, left ventricular outflow tract obstruction, sustained ventricular arrhythmias, and significant bradyarrhythmias, between January 1, 2003, and July 31, 2018, were assessed. Cox regression analysis and inverse probability weighting (IPW) propensity score analysis were used to evaluate the association between beta-blocker therapy and survival free of TTS recurrence.
From 970 TTS patients, 582 (60.0%) received beta-blockers. During a mean follow-up of 2.5±3.3 years, there were 87 deaths (3.6 per 100 patients/year) and 29 TTS recurrences (1.2 per 100 patient/year). There was no significant difference in follow-up mortality or TTS recurrence in unadjusted and adjusted Cox analysis (hazard ratio HR 0.86, 95% confidence interval CI 0.59–1.27, and 0.95, 95% CI 0.57–1.13, respectively). After weighting and adjusting by IPW, differences in one-year survival free of TTS recurrence between patients treated and untreated with beta-blockers were not found (average treatment effect −0.01, 95% CI −0.07 to 0.04; p=0.621).
In this observational nationwide study from Spain, there was no significant association between beta-blocker therapy and follow-up survival free of TTS recurrence.
Ainda não foi estabelecido um tratamento baseado na evidência para a síndrome de Takotsubo (STT). Dados os efeitos supostamente nocivos das catecolaminas em doentes com STT, os betabloqueantes podem potencialmente diminuir a intensidade dos seus efeitos prejudiciais nesses doentes.
Avaliar o impacto da terapêutica com betabloqueantes na mortalidade a longo prazo e na recidiva da STT.
O estudo coorte utilizou o registo nacional espanhol da síndrome de Takotsubo (RETAKO). Foram avaliados 970 sobreviventes de STT após a alta, sem feocromocitoma, sem obstrução do trato de saída do ventrículo esquerdo, sem arritmias ventriculares mantidas e sem bradiarritmias significativas, entre 1 de janeiro de 2003 e 31 de julho de 2018. A análise de regressão de Cox e a análise da ponderação de probabilidade inversa (PPI) foram utilizadas para avaliar a associação entre a terapia com betabloqueantes e a sobrevivência sem recidiva de STT.
Dos 970 doentes com STT, 582 (60,0%) foram tratados com betabloqueantes. Durante um seguimento médio de 2,5±3,3 anos, houve 87 mortes (3,6 por 100 doentes/ano) e 29 recidivas de STT (1,2 por 100 doentes/ano). Não se verificaram diferenças significativas na mortalidade durante o seguimento, nem na recidiva de STT na análise Cox não ajustada e ajustada (Hazard Ratio HR 0,86, Intervalo de Confiança IC 95%, 0,59-1,27 e IC 95%−0,57-1,13, respetivamente). Após ponderação e ajuste por PPI, não foram também encontradas diferenças na sobrevivência a um ano e na recidiva de STT entre doentes tratados e não tratados com betabloqueantes (efeito médio do tratamento −0,01, IC 95% −0,07 a 0,04; p=0,621).
Neste estudo observacional de âmbito nacional em Espanha, não houve associação significativa entre a terapêutica com betabloqueantes e a sobrevivência ou recidivas de STT.
Antifungal resistance is increasing by the emergence of intrinsically resistant species and by the development of secondary resistance in susceptible species. A previous study performed in Spain ...revealed levels of azole resistance in molds of between 10 and 12.7%, but secondary resistance in
was not detected. We used itraconazole (ITZ)-supplemented medium to select resistant strains. A total of 500 plates supplemented with 2 mg/liter of ITZ were sent to 10 Spanish tertiary hospitals, and molecular identification and antifungal susceptibility testing were performed. In addition, the
gene in those
strains showing azole resistance was sequenced. A total of 493 isolates were included in the study. Sixteen strains were isolated from patients with an infection classified as proven, 104 were isolated from patients with an infection classified as probable, and 373 were isolated from patients with an infection classified as colonization.
was the most frequent genus isolated, at 80.3%, followed by
(7.9%),
(4.5%),
(2.6%), and the order
(1%). Antifungal resistance was detected in
species,
,
, and
Three strains of
were resistant to azoles; two of them harbored the TR
+L98H mechanism of resistance, and the other one had no mutations in
The level of azole resistance in
remains low, but cryptic species represent over 10% of the isolates and have a broader but overall higher range of antifungal resistance.
ImportanceIdentifying undetected clinical signs is imperative in the prevention of SARS-CoV-2.ObjectiveTo establish the prevalence of clinical gustatory and olfactory dysfunctions in patients with ...COVID-19 pneumonia. Clinical outcomes and recovery rates associated with gustatory and olfactory dysfunctions were also assessed.DesignA prospective study was performed in 80 patients admitted to Hospital Clínic of Barcelona (Spain) for COVID-19 pneumonia. Patients were re-evaluated in the ward daily until discharge. Gustatory and olfactory dysfunction symptoms were retrospectively collected from emergency room (ER) charts after first assessments. Follow-up was performed in telemedicine consultation.SettingThe single-centre study was performed in a hospitalisation ward at a university hospital.ParticipantsConsecutive patients meeting hospitalisation criteria for COVID-19 pneumonia were eligible. Study exclusion criteria were patients who could not speak, had previous gustatory and olfactory dysfunctions or whose PCR tests for SARS-CoV-19 were negative.InterventionsSystematic assessment of gustatory and olfactory symptoms with standardised questions.Outcome(s)Prevalence of gustatory and olfactory dysfunctions in patients with COVID-19 pneumonia.ResultsOf the 80 study subjects, 62.5% were male and the median age was 57 years. Half of the cohort (n=40) presented with comorbidities. The prevalence of chemosensitive disorder was 73.8% (n=59) (95% CI: 63.8 to 83.8), although self-reported symptoms were recorded in only 26.3% (n=21) of patients in the ER. Gustatory and olfactory dysfunctions were observed in 58.8% (n=47) and 55% (n=44) of cases, respectively. They were also the first symptoms in 25% (n=20) of patients. Anosmia was associated with ageusia, OR: 7, 95% CI: 2.3 to 21.8, p=0.001). No differences in clinical outcomes were observed when patients with and without gustatory and olfactory dysfunctions were compared. Recovery rates were 20% (n=10) and 85% (n=42) at days 7 and 45, respectively.ConclusionThe prevalence of gustatory and olfactory dysfunctions in COVID-19 pneumonia was much higher than in self-report. Presence of gustatory and olfactory dysfunctions was not a predictor of clinical outcomes.
Limited aerobic capacity, low exercise tolerance, and frailty are highly prevalent in patients awaiting heart transplantation (HT) and tightly related to negatively impacting postoperative outcomes ...and healthcare resource consumption. Prehabilitation (prehab) has shown efficacy in improving functional status and preventing postoperative complications in selected high-risk surgical populations. However, the implementation of these programs feasibility and efficacy has not been evaluated in advanced heart failure patients. Prehab could be health resource-consuming and represent an economic burden. This study aimed to investigate the impact of prehab on HT postoperative outcomes and to evaluate the cost-effectiveness of a multimodal prehab program for HT candidates.
Single-centre, ambispective cohort study including forty-six candidates for elective HT from 2017 to 2021 attending a multimodal prehab program (intervention) consisting of supervised exercise training, physical activity promotion, nutritional optimization, and psychological support. The postoperative outcomes and total cost of the prehab program (n=31) were compared with a group of twelve contemporaneous patients who did not join the program and those transplanted from 2014 to 2017 before the implementation of the program (n=51).
Main postoperative measured outcomes: Comprehensive Complication Index (CCI), mechanical ventilation time, total hospitalization and intensive care length-of-stay, destination at discharge (home vs. rehabilitation facility), hospital readmissions at 30 days, and mortality at 30-days, 3-months, and 1-year.
A prehab program cost analysis was performed. Healthcare use included HT surgical procedures, direct hospitalization (until discharge), and prehab costs. Data were obtained through micro-costing techniques according to resource use, combined with diagnostic-related centre-specific hospital fees. A bootstrapping approach was performed to control the skewness of the distribution.
Thirty-one prehab patients underwent HT. Their postoperative outcomes were compared to the previously described control group.
Significant improvements were observed in functional capacity (endurance time: 293 vs. 632s, p<0.001) and quality-of-life (Minnesota score: 58 vs. 47, p=0.046) after prehab. No exercise-related events were registered. Five candidates were eventually removed from the waitlist due to significant functional capacity improvement after prehab.
Prehab cohort showed a lower rate and severity of postoperative medical complications (CCI 37 vs. 31, p=0.033), lower mechanical ventilation time (37 vs. 20 hours, p=0.032), ICU stay (7 vs. 5 days, p=0.01), total hospitalization stay (23 vs. 18 days, p=0.008) and less need for transfer to nursing/rehabilitation facilities after hospital discharge (31% vs. 3%, p=0.009).
The mean cost per prehab program patient was 2,195€ mainly driven by supervised exercise training (1,971€). The healthcare-related mean cost for the HT index hospitalization, including the cost of the prehab program, did not show differences between groups (prehab: 56,503€ vs. control: 66,556€; p=0.12). The difference in costs was only statistically significant when removing the outliers from the analysis.
Our findings support the beneficial impact of a multimodal prehabilitation intervention in the short-term postoperative outcomes of HT recipients without increasing direct healthcare costs, which may be interpreted as evidence of higher value for money (cost-effective intervention).
PDF
