Search results for "Typing"
showing 10 items of 1051 documents
Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman.
1995
Congenital absence of both lungs is an extremely rare malformation in humans and is thought to occur sporadically. We report the second case of congenital absence of both lungs in the offspring of one woman. In neither case, one female baby (born at term) and one aborted female fetus (21 weeks of gestation), were anomalies or malformations of other organ systems observed. The karyotype of the aborted fetus was 46,XX. To our knowledge, this is the first report describing bilateral pulmonary agenesis in two offspring of one mother. The repetition of virtually the same isolated abnormality with no other malformations supports the hypothesis that it could be caused by a genetic disorder. Other …
Imported and Indigenous cases of Invasive Meningocococcal Disease W:P1.5,2:F1-1: ST-11 in migrants' reception centers. Italy, June-November 2014.
2015
We report about three unliked cases of meningococcal meningitis caused by the ST-11/ET-37 strain of Neisseria meningitidis serogroup W. Two of the three cases, detected in Sicily on June and July 2014, were migrants from Mali and Eritrea. The third case was a fatal meningitis occurred on November 2014 in a 37 years old man, working in an immigrant center in Calabria. This report suggests that tetravalent conjugate vaccines (ACYW) should be actively offered to the staff of migrants’ reception centers.
Differential gene expression in p53-mediated G(1) arrest of human fibroblasts after gamma-irradiation or N-phosphoacetyl-L-aspartate treatment.
2000
In human fibroblasts, N:-phosphoacetyl-L-aspartate (PALA) and gamma-radiation induce reversible and irreversible p53-mediated G(1) cell cycle arrest, respectively. By coupling the premature chromosome condensation technique to fluorescence in situ hybridization, we found no evidence of DNA damage after PALA treatment. We used representational difference analysis (cDNA-RDA) to study changes in gene expression after PALA treatment and gamma-radiation in normal human fibroblasts. The mammary-derived growth inhibitor (MDGI) gene was expressed in PALA-treated cells. Ectopic MDGI expression arrested PALA-treated but not irradiated RKO cells. Expression of an antisense RNA against MDGI resulted in…
Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous…
2001
Comparative genomic hybridisation (CGH) represents an alternative molecular-cytogenetic technique capable of detecting chromosomal imbalances by reverse fluorescence in situ hybridisation. As the technique uses genomic DNA for assessment it does not rely on metaphase chromosomes in the test material and thus circumvents technical problems associated with tissue culturing. In the present study, we applied CGH to identify chromosome anomalies in 60 spontaneous abortions of the first trimester, that had failed to grow in culture. In 57 out of 60 cases CGH analyses were successful. The overall aneuploidy rate detected was 72%. Trisomy was the predominant chromosome anomaly accounting for 68.0% …
NOR regions of polychaete worms of the genus Ophryotrocha studied by chromosome banding techniques and FISH.
2000
This article reports the results of cytogenetic analyses carried out on 10 species of polychaete worms belonging to the genus Ophryotrocha (Dorvilleidae). Nucleolar organizer regions (NORs) were characterized by Ag staining, C-banding, CMA3 staining, and ribosomal fluorescent in situ hybridization (rDNA FISH). Extensive intraspecific variation in NOR number and distribution were observed in O. costlowi, O. sp. macrovifera, O. notoglandulata, O.l. labronica, O. l. pacifica (2n = 6), O. p. puerilis, O. diadema (2n = 8), O. hartmanni, O. gracilis (2n = 10). In O. sp. robusta (2n = 10), Ag-NORs were always located on a single chromosome pair. CMA3 staining suggests a possible trend toward a GC-…
C3 reference typing report and nomenclature revision.
1990
As the result of reference typing, two 'new' variants could be provisionally accepted (C3F045 and C3F015). The list of variants of the C3 polymorphism includes now 2 common and 29 rare variants.
Population structure and reticulate evolution of Saccharomyces eubayanus and its lager-brewing hybrids
2014
Reticulate evolution can be a major driver of diversification into new niches, especially in disturbed habitats and at the edges of ranges. Industrial fermentation strains of yeast provide a window into these processes, but progress has been hampered by a limited understanding of the natural diversity and distribution of Saccharomyces species and populations. For example, lager beer is brewed with Saccharomyces pastorianus, an alloploid hybrid of S. cerevisiae and S. eubayanus, a species only recently discovered in Patagonia, Argentina. Here, we report that genetically diverse strains of S. eubayanus are readily isolated from Patagonia, demonstrating that the species is well established the…
ATP1A2 mutations in 11 families with familial hemiplegic migraine.
2005
Abstract Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in ATP1A2. We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative. A total of eight different mutations were identified in 11 of the probands (41%), including six missense mutations, one small deletion leading to a frameshift, and one in frame deletion. All were novel mutations. Two mutations were recurrent, in three and two families, respectively. Genotyping of 94 relatives of th…
Modeling and 'smart' prototyping human-in-the-loop interactions for AmI environments
2021
[EN] Autonomous capabilities are required in AmI environments in order to adapt systems to new environmental conditions and situations. However, keeping the human in the loop and in control of such systems is still necessary because of the diversity of systems, domains, environments, context situations, and social and legal constraints, which makes full autonomy a utopia within the short or medium term. Human-system integration introduces an important number of challenges and problems that have to be solved. On the one hand, humans should interact with systems even in those situations where their attentional, cognitive, and physical resources are limited in order to perform the interaction.…
Requirements elicitation methods based on interviews in comparison: A family of experiments
2020
Abstract Context There are several methods to elicit requirements through interviews between an end-user and a team of software developers. The choice of the best method in this context is usually on subjective developers’ preferences instead of objective reasons. There is a lack of empirical evaluations of methods to elicit requirements that help developers to choose the most suitable one. Objective This paper designs and conducts a family of experiments to compare three methods to elicit requirements: Unstructured Interviews, where there is no specific protocol or artifacts; Joint Application Design (JAD), where each member of the development team has a specific role; Paper Prototyping, w…