Search results for "CANDIDA"

Use of Candida zemplinina to improve wine quality: lowering alcohol level and enhancing glycerol content

2012

Impact of Candida species colonization and azoles resistance in a neonatal intensive care unit

2017

Background: Candida species are among the top 10 most frequently isolated nosocomial bloodstream pathogens in Europe. In particular, in neonatal intensive care units (NICUs) Candida infections are an emerging concern because of the increasing incidence, the related high morbidity and mortality rates reported. Moreover, the epidemiology of Candida infection rapidly changed in these years leading to the selection of less sensitive strains and species. Surveillance studies are mandatory to identify the local distribution of species, their antifungal susceptibility profiles and the emergence of resistance strains. Material/methods: From December 2012 we performed a cohort prospective surveillan…

The burden of Candida species colonization in NICU patients: a colonization surveillance study

2017

Fungal infections are an important cause of morbidity and mortality in neonatal intensive care units (NICUs). The identifi-cation of specific risk factors supports pre-vention of candidemia in neonates. Effec-tive prophylactic strategies have recently become available, but the identification and adequate management of high-risk in-fants is still a priority. Prior colonization is a key risk factor for candidemia. For this reason, surveillance studies to monitor in-cidence, species distribution, and antifun-gal susceptibility profiles, are mandatory. Among 520 infants admitted to our NICU between January 2013 and December 2014, 472 (90.77%) were included in the study. Forty-eight out of 472 (…

Fuzzy subgroup mining for gene associations

2004

When studying the therapeutic efficacy of potential new drugs, it would be much more efficient to use predictors in order to assess their toxicity before going into clinical trials. One promising line of research has focused on the discovery of sets of candidate gene profiles to be used as toxicity indicators in future drug development. In particular genomic microarrays may be used to analyze the causality relationship between the administration of the drugs and the so-called gene expression, a parameter typically used by biologists to measure its influence at gene level. This kind of experiments involves a high throughput analysis of noisy and particularly unreliable data, which makes the …

Divergently Transcribed Overlapping Genes Expressed in Liver and Kidney and Located in the 11p15.5 Imprinted Domain

1998

Human chromosomal band 11p15.5 has been shown to contain genes involved in the development of several pediatric and adult tumors and in Beckwith-Wiedemann syndrome (BWS). Overlapping P1 artificial chromosome clones from this region have been used as templates for genomic sequencing in an effort to identify candidate genes for these disorders. PowerBLAST identified several matches with expressed sequence tags (ESTs) from fetal brain and liver cDNA libraries. Northern blot analysis indicated that two of the genes identified by these ESTs encode transcripts of 1-1.5 kb with predominant expression in fetal and adult liver and kidney. With RT-PCR and RACE, full-length transcripts were isolated f…

Genome-Wide Analyses Identifies Known and New Markers Responsible of Chicken Plumage Color

2020

Simple Summary In order to assess sources of variation related to Polverara breed plumage color (black vs. white), we carried out genome-wide analyses to identify the genomic regions involved in this trait. The present work has revealed new candidate genes involved in the phenotypic variability in local chicken populations. These results also contribute insights into the genetic basis for plumage color in poultry, and confirm the great complexity of the mechanisms that control this trait. Abstract Through the development of the high-throughput genotyping arrays, molecular markers and genes related to phenotypic traits have been identified in livestock species. In poultry, plumage color is a…

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

2017

AbstractDespite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing and bone fragility, a clinical entity we have termed O2HE (Osteo-Oto-Hepato-enteric) syndrome. Whole exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A), as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss of function paradigm, wherein mutations …

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

2013

The work conducted at the WTCHG was supported by Wellcome Trust grants [076566/Z/05/Z] and [075491/Z/04]; the work in Zurich partly by an SNSF grant [32-108130]. We also thank MAF (Mutation Analysis core Facility) at the Karolinska Institute, Novum, Huddinge. The French part of the project was funded by Agence Nationale de la Recherche (ANR-06-NEURO-019-01 GENEDYS) and Ville de Paris. S Paracchini is a Royal Society University Research Fellow. D Czamara was supported by the Deutsche Forschungsgemeinschaft (German Research Foundation) within the framework of the Munich Cluster for Systems Neurology (EXC 1010 SyNergy). Dyslexia is one of the most common childhood disorders with a prevalence o…

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

2010

We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10(-8)). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with gen…

Genome-wide analysis reveals the patterns of genetic diversity and population structure of 8 Italian local chicken breeds

2021

The aim of this study was to conduct a genome-wide comparative analysis of 8 local Italian chicken breeds (Ermellinata di Rovigo, Millefiori di Lonigo [PML], Polverara Bianca, Polverara Nera, Padovana, Pepoi [PPP], Robusta Lionata, and Robusta Maculata), all under a conservation plan, to understand their genetic diversity and population structure. A total of 152 animals were analyzed using the Affymetrix Axiom 600 K Chicken Genotyping Array. The levels of genetic diversity were highest and lowest in PML and PPP, respectively. The results of genomic inbreeding based on runs of homozygosity (ROH; FROH) showed marked differences among breeds and ranged from 0.161 (PML) to 0.478 (PPP). Furtherm…