The diagnostic value of pleural fluid homocysteine in malignant pleural effusion

Background Pleural fluid homocysteine (HCY) can be useful for diagnosis of malignant pleural effusion (MPE). There are no published studies comparing the diagnostic accuracy of HCY with other tumour markers in pleural fluid for diagnosis of MPE. The aim was to compare the accuracy of HCY with that of carcinoembryonic antigen (CEA), cancer antigen (CA) 15.3, CA19.9 and CA125 in pleural fluid and to develop a probabilistic model using these biomarkers to differentiate benign (BPE) from MPE. Methods Patients with pleural effusion were randomly included. HCY, CEA, CA15.3, CEA19.9 and CA125 were quantified in pleural fluid. Patients were classified into two groups: MPE or BPE. By applying logistic regression analysis, a multivariate probabilistic model was developed using pleural fluid biomarkers. The diagnostic accuracy was determined by receiver operating characteristic (ROC) curves and calculating the area under the curve (AUC). Results Population of study comprised 133 patients (72 males and 61 females) aged between 1 and 96 years (median = 70 years), 81 BPE and 52 MPE. The logistic regression analysis included HCY (p< 0.0001) and CEA (p = 0.0022) in the probabilistic model and excluded the other tumour markers. The probabilistic model was: HCY+CEA = Probability(%) = 100x( 1 +e(-z))(-1), where Z = 0.5471x[ HCY]+0.3846x[ CEA]-8.2671. The AUCs were 0.606, 0.703, 0.778, 0.800, 0.846 and 0.948 for CA125, CA19.9, CEA, CA15.3, HCY and HCY+CEA, respectively. Conclusions Pleural fluid HCY has higher accuracy for diagnosis of MPE than CEA, CA15.3, CA19.9 and CA125. The combination of HCY and CEA concentrations in pleural fluid significantly improves the diagnostic accuracy of the test

Algoritmos diagnósticos y biomarcadores sanguíneos de la COVID-19

Trabajo presentado en el Seminario Programa de Enfermedades Hepáticas, Digestivas e Inflamatorias, celebrado online el 18 de noviembre de 2020

CYFRA 21-1 as a tool for distant metastasis detection in lung cancer

[Background] A study to analyse tumor markers (CEA, CA125, CA15.3, CA19.9, CYFRA 21-1, and NSE) for metastasis detection in lung cancer patients.[Methods] Serum tumor markers from 73 lung cancer patients were measured before they were diagnosed. After lung cancer diagnosis, tumor markers were analyzed for the detection of distant metastases.[Results] In NSCLC patients CYFRA 21-1 and NSE showed differences between stage IV and any of the other stages, p <0.05. The accuracy for metastasis detection was AUC = 81.5% for CYFRA 21-1 and AUC = 78.6% for NSE. CYFRA 21-1 (OR = 1.406; 95% CI, 1.087 - 1.821, p <0.01) and NSE (OR = 1.197; 95% CI, 1.011 - 1.416, p <0.05) were independent predictors for metastasis presence. No tumor marker showed significant differences according to stages in SCLC patients.[Conclusions] CYFRA 21-1 could be used as a screening tool for metastasis detection in lung cancer patients without symptoms of metastasis as well as CYFRA 21-1 and NSE in NSCLC patients.Peer Reviewe

Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

[Background] Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid α-glucosidase gene (GAA) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identify genetic variations and clinical features in Spanish subjects to establish genotype–phenotype correlation.[Methods] A total of 2637 samples of patients who showed symptoms or susceptible signs of PD were enrolled in this observational study. Enzymatic activity was detected by fluorometric techniques and the genetic study was carried out using Next-Generation Sequencing.[Results] Fourteen different variants from 17 diagnosed patients were identified, seven males and nine females with LOPD (mean age 36.07, SD 20.57, range 7–64) and a 2-day-old boy with IOPD, four genetic variants had not been described in the literature previously, including a homozygous variant. In all of them α-glucosidase activity was decreased. Muscle weakness, respiratory distress, exercise intolerance, hypotonia, dysphagia and myalgia were commonly observed in patients.[Conclusions] This study report four new genetic variants that contribute to the pathogenic variants spectrum of the GAA gene. We confirm that patients in Spain have a characteristic profile of a European population, with c.-32-13T>G being the most prevalent variant. Furthermore, it was confirmed that the c.236_246delCCACACAGTGC pathogenic variant in homozygosity is associated with early disease and a worse prognosis.This work was supported by Fundación Pública Andaluza para la Gestión de la Investigación en Salud de Sevilla (FISEVI)—Fondos FEDER.Peer reviewe

Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene

[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by mutations in acid β-glucosidase (GBA) gene. This study aimed to identify mutations in Andalusia patients with GD and their genotype-phenotype correlation.[Methods]: Descriptive observational study. University Hospital Virgen del Rocio patients diagnosed from GD from 1999 to 2019 were included. Demographic and clinical data, β-glucocerebrosidase activity, variants pathogenic in GBA gene and biomarkers for monitoring treatment were collected from digital medical record.[Results]: Twenty-six patients with aged between 1 day and 52 years were studied. A total of six mutations described as pathogenic and one mutation not described above [c.937T>C (p.Tyr313His)] were identified in the GBA gene, four patients were homozygotes and 22 compound heterozygotes. Twenty-four patients were diagnosed in non-neuropathic form (type 1) and two cases presented neurological involvement (type 2 or 3). The most common variant was c.1226A>G (p.Asn409Ser), which was detected in 24 patients, followed by c.1448T>C (p.Leu483Pro) variant, identified in 13 patients. The c.1448T>C (p.Leu483Pro) mutation has been presented in the most severe phenotypes with neurological involvement associated with type 2 and 3 GD, while c.1226A>G (p.Asn409Ser) mutation has not been associated with neurological alterations. Splenomegaly and bone disease were the most frequent clinical manifestations, and thrombocytopenia was the most common hematological disorder.[Conclusions]: The c.1226A>G (p.Asn409Ser) and c.1448T>C (p.Leu483Pro) mutations were the most common. The c.937T>C (p.Tyr313His) was identified as a novel mutation. The c.1448T>C (p.Leu483Pro) mutation was associated with neurological alterations and c.1226A>G (p.Asn409Ser) mutation has not been associated it

Influence of reduction in the elution times on HPLC glycohaemoglobin results

3 páginas, 1 tabla.Objectives To compare HPLC methods with short and long elution times for HbA1c measurement in blood. Methods Comparison between G7-Tosoh (1.2 min); Bio-Rad-Variant-II-Turbo (1.3 min) and Arkray-HA-8160 (2.9 min). Results Passing–Bablok regression equations were: Y = 0.17 + 0.96X; Y = − 0.39 + 1.01X; Y = − 0.40 + 1.0X and the means of the differences using Bland–Altman Plot were 0.02; − 0.34; 0.32 for HA-8160/G7-Tosoh, HA-8160/Variant-II-Turbo and G7-Tosoh/Variant-II-Turbo, respectively. Conclusions Faster elution methods had no problems on reproducibility of results obtained by slower elution methods.Peer reviewe