查看更多>>摘要：Background: Recommendations on the optimal preservation of 24 h urine for the metabolic work-up in urolithiasis patients are very heterogeneous. In case two such tests with different storage condition recommendations are being analysed, multiple collections would be needed, challenging especially elderly and very young patients. We therefore aimed to evaluate the stability of urine constituents under different storage conditions. Material and methods: We collected urine samples from ten healthy volunteers and prepared aliquots to be stored either at room temperature or 4 C. Some aliquots were preserved using hydrochloric acid prior to storage, some thereafter, some using the BD Urine preservation tube and some were not preserved at all. Storage duration was 0, 24, 48 or 72 h. In all samples calcium, magnesium, phosphorus, creatinine, oxalate, citrate and uric acid were measured and compared to the according reference sample. Results: We could not find any significant deviation for any of the analytes and preanalytical treatment conditions compared to the associated reference sample. Conclusion: Preservation of 24 h urine for the metabolic evaluation in stone formers might not be necessary for sample storage up to 72 h.
查看更多>>摘要：Laboratory tests, especially point-of-care testing (POCT), and related health information exchange (HIE) are necessary for patient management in the home care setting, where clinic-hospital cooperation and interprofessional collaboration are important.We raised the issues ahead of HIE in relation to POCT in home care in Japan, including issues in electronic medical record use, localized interprofessional collaboration networks with information and communication technology, personal health record use and open connectivity.HIE system may depend on the initiatives of expert communities with non-expert partnership, as well as national healthcare policies.We promote future challenges in this growing area.
查看更多>>摘要：Background and aim: Sigma metrics are applied in clinical laboratories to assess the quality of analytical processes. A parameter associated to a Sigma > 6 is considered "world class" whereas a Sigma < 3 is "poor" or "unacceptable". The aim of this retrospective study was to quantify the impact of different approaches for Sigma metrics calculation. Material and methods: Two IQC levels of 20 different parameters were evaluated for a 12-month period. Sigma metrics were calculated using the formula: (allowable total error (TEa) (%) - bias (%))/(coefficient of variation (CV) (%)).Method precision was calculated monthly or annually. The bias was obtained from peer comparison program (PCP) or external quality assessment program (EQAP), and 9 different TEa sources were included.Results: There was a substantial monthly variation of Sigma metrics for all combinations, with a median variation of 32% (IQR, 25.6-41.3%). Variation across multiple analyzers and IQC levels were also observed. Furthermore, TEa source had the highest impact on Sigma calculation with proportions of Sigma > 6 ranging from 17.5% to 84.4%. The nature of bias was less decisive.Conclusion: In absence of a clear consensus, we recommend that laboratories calculate Sigma metrics on a sufficiently long period of time (>6 months) and carefully evaluate the choice of TEa source.
查看更多>>摘要：Infancy and early childhood are the most common ages for acute pyretic Kawasaki disease (KD). Although the etiology remains a mystery, the current concept is that KD is caused by a contagious pathogen that infects the genetically vulnerable and induces an inflammatory mechanism aimed at cardiovascular organs. Resolving the inflammatory process and decreasing the incidence of coronary anomalies, namely coronary aneurysms, are two benefits of high-dose intravenous immunoglobulin (IVIG) administration. The etiology of KD has been linked to a large number of cytokines and treatment strategies to regulate these cytokines have been suggested. This review will focus on the critical role of cytokines in disease development and possible treatment approaches and potential clinical applications.
查看更多>>摘要：Cerebral creatine deficiency syndromes (CCDSs) are a group of rare mendelian disorders mainly characterized by intellectual disability, movement anomaly, behavior disorder and seizures. SLC6A8, GAMT, and GATM are known genes responsible for CCDS. In this study, seven pediatric patients with developmental delay were recruited and submitted to a series of clinical evaluation, laboratory testing, and genetic analysis. The clinical manifestations and core biochemical indications of each child were basically consistent with the diagnosis of CCDS. Genetic diagnosis determined that all patients were positive for SLC6A8 or GAMT variation. A total of 12 variants were identified in this cohort, including six novel ones. The frequency of these variants, the Revel scores and the conservatism of the affected amino acids support their pathogenicity. Our findings expanded the mutation spectrum of CCDS disorders, and provided solid evidence for the counseling to affected families.
查看更多>>摘要：Background: IgE multiple myeloma (MM) is a rare subtype of MM that is easily misdiagnosed. We report a rare case of IgE-MM and investigate the application of the SLiM-CRAB criteria to screen for high-risk smoldering MM (SMM) patients, so as to summarize the causes and methods used to prevent missed diagnosis or misdiagnosis in IgE-MM. Methods: The serum monoclonal protein (M-protein) classification and IgE quantification was performed and sent to several individual institutions. The results were collected and the causes of IgE detection defects were analyzed. Results: Upon admission to our hospital, the patient's serum free kappa light chain was 1069.9 mg/L, free lambda light chain was 9.2 mg/L, and free kappa/lambda ratio was 115.9, which met the SLiM criteria, but without CRAB features. Immunofixation electrophoresis (IF) showed "M-like protein aggregation bands " in all lanes. After pretreatment with 1% beta-mercaptoethanol to depolymerize the aggregation of monoclonal protein, the "M like protein aggregation bands disappeared. The other five institutions did not provide the correct typing results. The quantification of serum IgE was as high as 2.06 x 10(7) IU/mL, whereas 7 other testing institutions reported IgE levels ranging from 1.0 to 1100 IU/mL. Conclusion: High-risk biomarkers in SLiM criteria can achieve good therapeutic effects in rare IgE-MM patients. Serum immunofixation performed without antisera against IgE, insufficient identification of the lytic bands produced by high macromolecule aggregation in IF, and the absence of a prozone effect avoidance procedure during IgE quantitative detection are the primary causes of missed diagnosis or misdiagnosis in patients with IgE-MM.
查看更多>>摘要：Background: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by defects in the survival motor neuron 1 (SMN1) gene. Homozygous deletion of the SMN1 gene accounts for 95% of all affected SMA patients. A highly homologous gene survival motor neuron 2 (SMN2) compensates weakly with the loss of SMN1 and its copy number correlates with disease severity.Methods: We report here the MS-CNV method combining competitive PCR and MALDI-TOF mass spectrometry for simultaneous quantification of SMN1, SMN2 and NAIP dosages. For both SMN1 and SMN2, the exon 7 and exon 8 were analyzed. MS-CNV was validated with parallel analysis by a commercial MLPA assay in two independent cohorts.Results: In the first cohort of 79 blood samples containing 3 SMA patients and 5 carriers, MS-CNV results were highly concordant with MLPA analysis for the copy numbers of SMN1, SMN2 and NAIP. In the second independent and blinded cohort of 62 blood samples containing 21 SMA patients and 14 carriers, MS-CNV results were also highly concordant with MLPA. Both MS-CNV and MLPA quantified SMN1 dosages without ambiguity. Conclusions: MS-CNV can be used for carrier screening and genetic diagnosis of SMA, providing dosages information for both SMN1 and SMN2 given its accuracy and high sample processing throughput by mass spectrometric analysis.
查看更多>>摘要：Background: Hearing loss is a group of diseases with high genetic heterogeneity. About 160 genes have been reported to be associated with hereditary hearing loss.Methods: 113 families with hearing loss were collected, and WES was used to detect SNV, InDel, CNV and mitochondrial gene variants. For some probands with negative WES test results, the copy number of STRC and OTOA were determined by using real-time fluorescence quantitative PCR.Results: Pathogenic or likely pathogenic variants were found in 54 probands, of which 98% (53/54) were SNVs or InDels and 2% (1/54) were CNVs, a positive rate of 48%. 16 families (14%) were detected with candidate variants of uncertain significance. 19 novel pathogenic or likely pathogenic variants and 22 candidate variants of uncertain significance were identified in this study. The most common hearing loss gene in the families was GJB2, accounting for 28% (15/53), followed by SLC26A4 and MYO15A, accounting for 21% (11/53) and 11% (6/53), respectively. Heterozygous gene deletion was detected in 3 probands, including 2 with STRC and 1 with OTOA in 43 families with WES negative test.Conclusion: Genetic etiology was clarified in 54 families. All of these findings broadened the mutation spectrum of hearing loss genes, thus providing new variant information for the future diagnosis of patients with hearing loss.
Ebo, Didier G.Heremans, KevinBeyens, Michielvan der Poorten, Marie-Line M....
8页
查看更多>>摘要：The basophil activation test (BAT) has emerged as a reliable complementary diagnostic to document IgEdependent allergies and to study cross-reactivity between structural homologues. However, the BAT has some weaknesses that hinder a wider application. The BAT requires fresh blood samples and is lost as a diagnostic in patients showing a non-responder status of their cells. The BAT is difficult to standardize mainly because of the difficulty to perform batch analyses. In contrast, mast cell activation tests (MATs), using passively sensitized mast cells (MCs) with patients' sera (henceforth indicated as passive MAT; pMAT), use serum samples that can be frozen, stored, and shipped to a reference center experienced in MC lines and/or cultures and capable of offering batch testing. With the recent recognition of the Mas-related G protein-coupled receptor X2 (MRGPRX2) occupation as a putative mechanism of immediate drug hypersensitivity reactions, the MAT has another advantage compared to the BAT. MCs, in contrast to resting basophils, express the MRGPRX2 and can therefore be used to study this IgE-independent mechanism. This review provides a status update of pMAT in the diagnosis of allergic IgE-mediated hypersensitivity and speculates how direct activation of MCs via the MRGPRX2 receptor could advance paradigms for this non-allergic hypersensitivity.
NSTL
Elsevier