Search results for "Molecular analysis"

Temporal variation in the distribution of type-1 human astrovirus lineages in a settled population over 14 years.

2016

Human astroviruses (HAstVs) are important enteric pathogens that are genetically and antigenically heterogeneous and can be classified into eight sero/genotypes (HAstV-1 to -8) and different lineages within each HAstV type. This study describes the genetic diversity of HAstVs circulating in southern Italy over 14 years. Molecular analysis of HAstV-1 strains showed that three different lineages (1a, 1b and 1d) of the predominant genotype were circulating during the study period. The study of an archival collection of HAstV strains offers a unique opportunity to evaluate the patterns of variation of HAstV infections over the years and to correlate the observed epidemiological changes to the g…

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.

2018

AbstractBackground:Many European laboratories offer molecular genetic analysis of theCFTRgene using a wide range of methods to identify mutations causative of cystic fibrosis (CF) and CFTR-related disorders (CFTR-RDs). Next-generation sequencing (NGS) strategies are widely used in diagnostic practice, and CE marking is now required for most in vitro diagnostic (IVD) tests in Europe. The aim of this multicenter study, which involved three European laboratories specialized in CF molecular analysis, was to evaluate the performance of Multiplicom’s CFTR MASTR Dx kit to obtain CE-IVD certification.Methods:A total of 164 samples, previously analyzed with well-established “reference” methods for t…

A retrospective study of the characterization of Rickettsia species in ticks collected from humans

2017

Rickettsiae (family Rickettsiaceae, order Rickettsiales) are obligate intracellular bacteria transmitted by arthropod vectors. Several Rickettsia species causing vector-borne rickettsioses belong to the spotted fever group (SFG). Traditionally, Rickettsia conorii has been considered as the main etiologic agent of Mediterranean spotted fever. However, the molecular characterization of rickettsiae allowed identifying other species involved in spotted fever in the Mediterranean region. In this study, 42 ticks collected from humans were subjected to morphological identification and molecular characterization of Rickettsia species potentially involved in human rickettsiosis in Sicily. Fourteen t…

A practical algorithmic approach to mature aggressive B cell lymphoma diagnosis in the double/triple hit era. Selecting cases, matching clinical bene…

2019

An accurate diagnosis of clinically distinct subgroups of aggressive mature B cell lymphomas is crucial for the choice of proper treatment. Presently, precise recognition of these disorders relies on the combination of morphological, immunophenotypical, and cytogenetic/molecular features. The diagnostic workup in such situations implies the application of costly and time-consuming analyses, which are not always required, since an intensified treatment option is reasonably reserved to fit patients. The Italian Group of Haematopathology proposes herein a practical algorithm for the diagnosis of aggressive mature B cell lymphomas based on a stepwise approach, aimed to select cases deserving mo…

The Cryptocercus punctulatus species complex (Dictyoptera: Cryptocercidae) in the eastern United States: comparison of cuticular hydrocarbons, chromo…

2008

1055-7903; The goal of the current study was to determine if cuticular hydrocarbons could be used to empirically delimit taxa within the Cryptocercus punctulatus species complex in the eastern United States. Cockroaches were collected from rotting logs in 22 locations across four states. Hydrocarbon phenotypes and two mitochondrial (16S and COII) genes and one nuclear (ITS2) gene were independently analyzed to determine their relationship with chromosome number. Five distinct hydrocarbon phenotypes were found, but these were only partly congruent with chromosome number and thus with purported species descriptions. Molecular and cuticular hydrocarbon data each indicate that Cryptocercus with…

Permeabilization of the erythrocyte membrane with streptolysin O allows access to the vacuolar membrane of Plasmodium falciparum and a molecular anal…

1997

Cytoplasmic autoantigens in autoimmune hepatitis: molecular analysis and clinical relevance.

1991

Staphylococcal food poisoning case and molecular analysis of toxin genes in Staphylococcus aureus strains isolated from food in Sicily, Italy.

2014

A case of staphylococcal food poisoning was observed in two individuals of the same family after consumption of primosale, a semiripened sheep cheese produced in Sicily. Staphylococcus aureus isolated from the cheese produced enterotoxin C (SEC) and carried both the enterotoxin C (sec) and the toxic shock syndrome toxin (tsst-1) gene. Following this case, an extensive survey was conducted on 971 food samples (raw milk, cheese, meat, and food preparations). S. aureus was detected in 102 of 971 food samples, from all types of food with the exception of ricotta cheese. The tsst-1 gene was present in 42% of the strains, either alone or in combination with other toxin genes. The enterotoxin C ge…

Extensive molecular analysis of patients bearing CFTR-related disorders.

2012

Cystic fibrosis transmembrane conductance regulator (CFTR)–related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients, looking for gene mutations in solute carrier (SLC) 26A and in epithelial Na channel (ENaC) in 33 patients who had unidentified mutations. CFTR analysis revealed 28 mutations, some of which are rare. Of these mutations, RT-PCR demonstrated that the novel 1525-1delG impairs exon 10 s…

Ultrastructural myopathology in the molecular era.

2013

Electron microscopy is an essential component of myopathology, both in diagnostics and research of neuromuscular diseases. Although recently reduced in the diagnostic armamentarium, it has greatly been expanded to mouse models in research. Mostly it is descriptive, but a few additional techniques in combination with transmission electron microscopy have been employed. Foremost among them is immunoelectron microscopy, which assists in guiding molecular analysis in hereditary conditions, but may be vital in diagnostics of certain acquired entities, e.g., undulating tubules in dermatomyositis and in those congenital myopathies where genes and mutations remain to be identified, as in cylindrica…