Towards the elimination of hepatitis C: implementation of reflex testing in Andalusia.

BACKGROUND AND AIM: undiagnosed hepatitis C virus (HCV) infection and/or inadequate access to care are barriers to the elimination of HCV. Reflex testing has proven to facilitate referral to care, treatment and viral elimination. In this study, a reflex testing program was implemented in Andalusia and its impact on access to care was evaluated. PATIENTS AND METHODS: an observational, retrospective and prospective study was performed across diagnostic laboratories responsible for HCV diagnosis in southern Spain. After surveying the barriers to performing reflex testing, the number of patients that were not referred for care in 2016 was retrospectively studied (pre-reflex cohort). Subsequently, several measures were proposed to overcome the identified barriers. Finally, reflex testing was implemented and its impact evaluated. RESULTS: the pre-reflex cohort included information from 1,053 patients. Slightly more than half of the patients (n = 580; 55%) visited a specialist for treatment evaluation during a median period of 71 days (interquartile range = 35-134) since the date of diagnosis. The post-reflex cohort (September 2017 to March 2018) included 623 patients. Only 17% (n = 106) of the patients had not been referred for care or evaluated for treatment in a median period of 52 days (interquartile range = 28-86). CONCLUSIONS: in 2016, nearly half of new HCV diagnoses in southern Spain were not referred for care. Barriers to the implementation of reflex testing were overcome in our study. Moreover, this strategy was effectively implemented in 2017. Reflex testing contributed to improving referral for care. This program will contribute to the micro-elimination of hepatitis C in Spain.

Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.

BACKGROUND: The availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the best personalized therapy for their patients. AIMS: To determine whether treatment with eliglustat produces, in adult GD1 patients, ans optimal response in daily clinical practice. METHODS: We designed a real-life study with 2 years of follow-up (TRAZELGA [GEE-ELI-2017-01]) to uniformly evaluate the response and adverse events to eliglustat treatment. This study, conducted in 30 patients across Spain and previously treated with other therapies, included the evaluation of safety and efficacy by assessing visceral enlargement, bone disease (DEXA and T and Z scores), concomitant treatments and adverse events, as well as a quality of life evaluation (SF-36). In addition, the quantification of classical biomarkers (chitotriosidase activity, CCL18/PARC and glucosylsphingosine (GluSph)) and new candidates for GD biomarkers (YKL-40, cathepsin S, hepcidin and lipocalin-2 determined by immunoassay) were also assessed. Non-parametric statistical analysis was performed and p < 0.05 was considered statistically significant. MAIN RESULTS: Thirty patients were enrolled in the study. The median age was 41.5 years and the male-female ratio was 1.1:1. 84% of the patients had received ERT and 16% SRT as previous treatment. The most common symptoms at baseline were fatigue (42%) and bone pain (38%), no patient had a bone crisis during the study, and two years after switching, 37% had reduced their use of analgesics. Patient-reported outcomes showed a significant increase in physical function scores (p = 0.027) and physical pain scores (p = 0.010). None of the enrolled patients discontinued treatment due to adverse events, which were mild and transient in nature, mainly gastrointestinal and skin dryness. None of the biomarkers show a significant increase or decompensation after switching. CCL18/PARC (p = 0.0012), YKL-40 (p = 0.00004) and lipocalin-2 (p = 0.0155) improved after two years and GluSph after one year (p = 0.0008) and two years (p = 0.0245) of oral therapy. CONCLUSION: In summary, this real-life study, showed that eliglustat maintains stability and can improve quality of life with few side effects. Significant reductions in classic and other novel biomarkers were observed after two years of therapy.

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.

BACKGROUND: The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complications in pediatric patients. In Spain ERT has been available since 1993 and 386 patients have been included in the Spanish Registry of Gaucher Disease (SpRGD). The aim of this study is to analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients. AIM: To analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients. METHODS: A review of data in SpRGD from patients' diagnosed before 18 years old was performed. The cohort was split according the year of diagnosis (≤1994, cohort A; ≥1995, cohort B). RESULTS: A total of 98 pediatric patients were included, GD1: 80, GD3: 18; mean age: 7.2 (0.17-16.5) years, 58 (59.2%) males and 40 (40.8%) females. Forty-five were diagnosed ≤ 1994 and 53 ≥ 1995. Genotype: N370S/N370S: 2 (2.0%), N370S/L444P: 27 (27.5%), N370S/other: 47 (48%), L444P/L444P: 7 (7.1%), L444P/D409H: 2 (2.0%), L444P/other: 3 (6.2%), other/other: 10 (10.2%). The mean age at diagnosis was earlier in patients diagnosed after 1995 (p < 0.001) and different between the subtypes, GD1: 8.2 (0.2-16.5) years and GD3: 2.8 (0.17-10.2) years (p < 0.001). There were more severe patients in the group diagnosed before 1994 (p = 0.045) carrying L444P (2), D409H (2), G377S (1), G195W (1) or the recombinant mutation. The patients' diagnosed ≤1994 showed worse cytopenias, higher chance of bone vascular complications at diagnosis and previous spleen removal. The patients started ERT at a median time after diagnosis of 5.2 years [cohort A] and 1.6 years [cohort B] (p < 0.001). CONCLUSIONS: The early diagnosis of Gaucher disease in the era of ERT availability has permitted to reduce the incidence of severe and irreversible initial complication in pediatric patients, and this has permitted better development of these patients. This is the largest pediatric cohort from a national registry.

Proyecto URISCAM: Evaluación multicéntrica del citómetro UF-Series en el despistaje de infecciones urinarias / URISCAM project: multicenter evaluation of the UF-Series cytometer in the urinary tract infections screening

Introducción. El urocultivo, prueba de referencia para confirmar la existencia de Infección del tracto urinario (ITU), es la solicitud más demandada a Microbiología. Nuestro objetivo fue determinar la rentabilidad diagnóstica del citómetro UF-Series como método de cribado en la detección de ITU. Material y métodos. Se analizaron las orinas remitidas a los seis laboratorios de Microbiología participantes en un periodo de 5 días laborables. Se recogieron variables demográficas y de origen de la muestra, tipo de muestra (orina de media micción, sondaje, nefrostomía), recogida con/sin ácido bórico, lectura del citómetro (leucocituria, bacteriuria, morfología bacteriana y células epiteliales) y resultado del urocultivo. Para determinar la capacidad predictiva del citómetro se representaron las curvas ROC. Resultados. Se procesaron 2.468 muestras de pacientes con edad media de 53 años (ratio mujeres:hombres 2:1). El urocultivo detectó un 23% de orinas positivas. Las variables predictoras de ITU fueron: lectura morfológica de bacilos, bacteriuria ≥ 21 bacterias/μL, edad ≥ 65 años, procedencia de las muestras recogidas en urgencias y hospitalización, y presencia de conservante. Con el punto de corte de 21 bacterias, obtuvimos una sensibilidad del 93,3% y un VPN del 94,5%, lo que permitiría dejar de sembrar el 28,9% de las orinas recibidas con 1,6% de falsos negativos. Conclusiones. Consideramos que el UF-Series es una herramienta válida y precisa para la detección de ITU, por lo que podría utilizarse como cribado previo al urocultivo en la práctica clínica, reduciendo el número de orinas a sembrar en aproximadamente un 30% con una tasa baja de falsos negativos (AU)

Introduction. Urine culture, the gold standard to confirm the presence of urinary tract infection (UTI), is the most requested assay in the microbiology department. Our objective was to determine the diagnostic yield of the UF-Series cytometer as a screening method for UTI. Material and methods. All the urine samples sent to the six Microbiology Laboratories participating in a period of 5 working days were analyzed. We collected demographic variables, apart from those variables related to urine samples: source and sample type (midstream, catheterized or nephrostomy urines), collection with/without boric acid, cytometer parameters (leukocyturia, bacteriuria, bacteria morphology and epithelial cells) and urine culture results. ROC curves were plotted to determine predictive capacity of the cytometer. Results. A sample of 2,468 patients with average age of 53 years were processed (ratio women:men 2:1). Urine culture detected 23% of positive urine samples. The predictor variables of UTI were: morphology of bacilli, bacteriuria ≥21 bacteria/μL, age ≥65 years, samples collected in the emergency service and hospitalization and preserving conditions. With 21 bacteria/ μL as a cut-off point, we obtained a sensitivity of 93.3% and 94.5% negative predictive value, then reducing the samples to be cultured by 28.9% with 1.6% false negatives. Conclusions. We consider that the UF-Series is a valid and accurate tool for the detection of UTI. Therefore, it could be used as screening method in the clinical practice prior to the urine culture, reducing culture requirement by approximately 30%, with a low false negative rate (AU)

Towards the elimination of hepatitis C: implementation of reflex testing in Andalusia

BACKGROUND AND AIM: undiagnosed hepatitis C virus (HCV) infection and/or inadequate access to care are barriers to the elimination of HCV. Reflex testing has proven to facilitate referral to care, treatment and viral elimination. In this study, a reflex testing program was implemented in Andalusia and its impact on access to care was evaluated. PATIENTS AND METHODS: an observational, retrospective and prospective study was performed across diagnostic laboratories responsible for HCV diagnosis in southern Spain. After surveying the barriers to performing reflex testing, the number of patients that were not referred for care in 2016 was retrospectively studied (pre-reflex cohort). Subsequently, several measures were proposed to overcome the identified barriers. Finally, reflex testing was implemented and its impact evaluated. RESULTS: the pre-reflex cohort included information from 1,053 patients. Slightly more than half of the patients (n = 580; 55%) visited a specialist for treatment evaluation during a median period of 71 days (interquartile range = 35-134) since the date of diagnosis. The post-reflex cohort (September 2017 to March 2018) included 623 patients. Only 17% (n = 106) of the patients had not been referred for care or evaluated for treatment in a median period of 52 days (interquartile range = 28-86). CONCLUSIONS: in 2016, nearly half of new HCV diagnoses in southern Spain were not referred for care. Barriers to the implementation of reflex testing were overcome in our study. Moreover, this strategy was effectively implemented in 2017. Reflex testing contributed to improving referral for care. This program will contribute to the micro-elimination of hepatitis C in Spain

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