Pediatric urolithiasis: the current surgical management

Children represent about 1% of all patients with urolithiasis, but 100% of these children are considered high risk for recurrent stone formation, and it is crucial for them to receive a therapy that will render them stone free. In addition, a metabolic workup is necessary to ensure a tailored metaphylaxis to prevent or delay recurrence. The appropriate therapy depends on localization, size, and composition of the calculus, as well as on the anatomy of the urinary tract. In specialized centers, the whole range of extracorporeal shock-wave lithotripsy (ESWL), ureterorenoscopy (URS), and percutaneous nephrolithotomy (PCNL) are available for children, with the same efficiency and safety as in adults

Clustering cliques for graph-based summarization of the biomedical research literature

BACKGROUND: Graph-based notions are increasingly used in biomedical data mining and knowledge discovery tasks. In this paper, we present a clique-clustering method to automatically summarize graphs of semantic predications produced from PubMed citations (titles and abstracts). RESULTS: SemRep is used to extract semantic predications from the citations returned by a PubMed search. Cliques were identified from frequently occurring predications with highly connected arguments filtered by degree centrality. Themes contained in the summary were identified with a hierarchical clustering algorithm based on common arguments shared among cliques. The validity of the clusters in the summaries produced was compared to the Silhouette-generated baseline for cohesion, separation and overall validity. The theme labels were also compared to a reference standard produced with major MeSH headings. CONCLUSIONS: For 11 topics in the testing data set, the overall validity of clusters from the system summary was 10% better than the baseline (43% versus 33%). While compared to the reference standard from MeSH headings, the results for recall, precision and F-score were 0.64, 0.65, and 0.65 respectively

Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations

P>Background One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the NCF2 gene, which encodes the polypeptide p67phox, a key cytoplasmic protein in the phagocyte NADPH oxidase system. NCF2 is localized on chromosome 1q25, encompasses 40 kb and contains 16 exons. Materials and methods We report here the clinical and molecular characterization of six patients with CGD from six consanguineous Turkish families. The ages of the five female patients were between 3 and 22 years and a male patient was 2 years old; all patients showed clear clinical symptoms of CGD. Results The mothers of the patients did not show a bimodal histogram pattern specific for X-CGD in the dihydrorhodamine-1,2,3 (DHR) assay. Moreover, p67phox protein expression was not detectable using flow cytometric analysis of the patients' neutrophils except in those from patient 6, which had a diminished expression. Mutation analysis of NCF2 revealed four different homozygous mutations: a novel nonsense mutation in exon 3 c.229C > T, p.Arg77X; a novel missense mutation in exon 4 c.279C > G, p.Asp93Glu; a nonsense mutation in exon 4 c.304C > T, p.Arg102X; and a novel missense mutation in exon 6 c.605C > T, p.Ala202Val. The parents were found to be heterozygotes for these mutations. Conclusions The prevalence of NCF2 mutant families is approximately 15% in our series of 40 CGD families. This high incidence of A67 CGD in Turkey is undoubtedly caused by the high incidence of consanguineous marriages. We found three new mutations in NCF2 and one previously described. These are presented together with an overview of all NCF2 mutations now know

Management and outcome of CSF-JC virus PCR-negative PML in a natalizumab-treated patient with MS

OBJECTIVE: To describe the diagnosis and management of a 49-year-old woman with multiple sclerosis (MS) developing a progressive hemiparesis and expanding MRI lesion suspicious of progressive multifocal leukoencephalopathy (PML) 19 months after starting natalizumab. RESULTS: Polyomavirus JC (JCV)-specific qPCR in CSF was repeatedly negative, but JCV-specific antibodies indicated intrathecal production. Brain biopsy tissue taken 17 weeks after natalizumab discontinuation and plasmapheresis was positive for JCV DNA with characteristic rearrangements of the noncoding control region, but histology and immunohistochemistry were not informative except for pathologic features compatible with immune reconstitution inflammatory syndrome. A total of 22 months later, the clinical status had returned close to baseline level paralleled by marked improvement of neuroradiologic abnormalities. CONCLUSIONS: This case illustrates diagnostic challenges in the context of incomplete suppression of immune surveillance and the potential of recovery of PML associated with efficient immune function restitution

Towards creating a new triple store for literature-based discovery

Literature-based discovery (LBD) is a field of research aiming at discovering new knowledge by mining scientific literature. Knowledge bases are commonly used by LBD systems. SemMedDB, created with the use of SemRep information extraction system, is the most frequently used database in LBD. However, new applications of LBD are emerging that go beyond the scope of SemMedDB. In this work, we propose some new discovery patterns that lie in the domain of Natural Products and that are not covered by the existing databases and tools. Our goal thus is to create a new, extended knowledge base, addressing limitations of SemMedDB. Our proposed contribution is three-fold: 1) we add types of entities and relations that are of interest for LBD but are not covered by SemMedDB; 2) we plan to leverage full texts of scientific publications, instead of titles and abstracts only; 3) we envisage using the RDF model for our database, in accordance with Semantic Web standards. To create a new database, we plan to build a distantly supervised entity and relation extraction system, employing a neural networks/deep learning architecture. We describe the methods and tools we plan to employ

Limits to Doping of Wide Band Gap Semiconductors

The role of defects in materials is one of the long-standing issues in solid-state chemistry and physics. On one hand, intrinsic ionic disorder involving stoichiometric amounts of lattice vacancies and interstitials is known to form in highly ionic crystals. There is a substantial literature on defect formation and the phenomenological limits of doping in this class of materials; in particular, involving the application of predictive quantum mechanical electronic structure computations. Most wide band gap materials conduct only electrons and few conduct holes, but rarely are both modes of conduction accessible in a single chemical system. The energies of electrons and holes are taken from the vertical ionization potentials and electron affinities; polaronic trapping of carriers is excluded. While the focus here is defect energetics, the atomic and electronic structures have been carefully examined in all cases to ensure physical results were obtained