A high-density integrated map for grapevine based on three mapping populations genotyped by the Vitis18K SNP chip.

KEY MESSAGE: We present a high-density integrated map for grapevine, allowing refinement and improved understanding of the grapevine genome, while demonstrating the applicability of the Vitis18K SNP chip for linkage mapping. The improvement of grapevine through biotechnology requires identification of the molecular bases of target traits by studying marker-trait associations. The Vitis18K SNP chip provides a useful genotyping tool for genome-wide marker analysis. Most linkage maps are based on single mapping populations, but an integrated map can increase marker density and show order conservation. Here we present an integrated map based on three mapping populations. The parents consist of the well-known wine cultivars 'Cabernet Sauvignon', 'Corvina' and 'Rhine Riesling', the lesser-known wine variety 'Deckrot', and a table grape selection, G1-7720. Three high-density population maps with an average inter-locus gap ranging from 0.74 to 0.99 cM were developed. These maps show high correlations (0.9965-0.9971) with the reference assembly, containing only 93 markers with large order discrepancies compared to expected physical positions, of which a third is consistent across multiple populations. Moreover, the genetic data aid the further refinement of the grapevine genome assembly, by anchoring 104 yet unanchored scaffolds. From these population maps, an integrated map was constructed which includes 6697 molecular markers and reduces the inter-locus gap distance to 0.60 cM, resulting in the densest integrated map for grapevine thus far. A small number of discrepancies, mainly of short distance, involve 88 markers that remain conflictual across maps. The integrated map shows similar collinearity to the reference assembly (0.9974) as the single maps. This high-density map increases our understanding of the grapevine genome and provides a useful tool for its further characterization and the dissection of complex traits.

Combined use of Kappa Free Light Chain Index and Isoelectrofocusing of Cerebro-Spinal Fluid in Diagnosing Multiple Sclerosis: Performances and Costs.

BACKGROUND: Isoelectrofocusing (IEF) to detect oligoclonal bands (OBCs) in cerebrospinal fluid (CSF) is the gold standard approach for evaluating intrathecal immunoglobulin synthesis in multiple sclerosis (MS) but the kappa free light chain index (KFLCi) is emerging as an alternative marker, and the combined/sequential uses of IEF and KFLCi have never been challenged. METHODS: CSF and serum albumin, IgG, kFLC and lFLC were measured by nephelometry; albumin, IgG and kFLC quotients as well as Link and kFLC indexes were calculated; OCBs were evaluated by immunofixation. A total of 150 consecutive patients: 48 with MS, 32 with other neurological inflammatory diseases (NID), 62 with neurological non-inflammatory diseases (NNID), and 8 without any detectable neurological disease (NND) were investigated. RESULTS: Both IEF and KFLCi showed a similar accuracy as diagnostic tests for multiple sclerosis. The high sensitivity and specificity associated with the lower cost of KFLCi suggested to use this test first, followed by IEF as a confirmative procedure. The sequential use of IEF and KFLCi showed high diagnostic efficiency with cost reduction of 43 and 21%, if compared to the contemporary use of both tests, or the unique use of IEF in all patients. CONCLUSIONS: The "sequential testing" using KFLCi followed by IEF in MS represents an optimal procedure with accurate performance and lower costs.

Epidemiology and outcomes of acute abdominal pain in a large urban Emergency Department: retrospective analysis of 5,340 cases.

BACKGROUND: Acute abdominal pain (AAP) accounts for 7-10% of all Emergency Department (ED) visits. Nevertheless, the epidemiology of AAP in the ED is scarcely known. The aim of this study was to investigate the epidemiology and the outcomes of AAP in an adult population admitted to an urban ED. METHODS: We made a retrospective analysis of all records of ED visits for AAP during the year 2014. All the patients with repeated ED admissions for AAP within 5 and 30 days were scrutinized. Five thousand three hundred and forty cases of AAP were analyzed. RESULTS: The mean age was 49 years. The most frequent causes were nonspecific abdominal pain (NSAP) (31.46%), and renal colic (31.18%). Biliary colic/cholecystitis, and diverticulitis were more prevalent in patients aged >65 years (13.17% vs. 5.95%, and 7.28% vs. 2.47%, respectively). Appendicitis (i.e., 4.54% vs. 1.47%) and renal colic (34.48% vs. 20.84%) were more frequent in patients aged <65 years. NSAP was the most common cause in both age classes. Renal colic was the most frequent cause of ED admission in men, whereas NSAP was more prevalent in women. Urinary tract infection was higher in women. Overall, 885 patients (16.57%) were hospitalized. Four hundred and eighty-five patients had repeated ED visits throughout the study period. Among these, 302 patients (6.46%) were readmitted within 30 days, whereas 187 patients (3.82%) were readmitted within 5 days. Renal colic was the first cause for ED readmission, followed by NSAP. In 13 cases readmitted to the ED within 5 days, and in 16 cases readmitted between 5-30 days the diagnosis was changed. CONCLUSIONS: Our study showed that AAP represented 5.76% of total ED visits. Two conditions (i.e., NSAP and renal colic) represented >60% of all causes. A large use of active clinical observations during ED stay (52% of our patients) lead to a negligible percentage of changing diagnosis at the second visit.