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Search Results: 1 - 10 of 81837 matches for " Maria Laura Ursini "
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Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease
Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, Loredana Canzano, Liana Palermo, Francesca Fusco, Giovanni D'Antuono, Chiara Gelmini, Livia Garavelli, Matilde Valeria Ursini
PLOS ONE , 2014, DOI: 10.1371/journal.pone.0087771
Abstract: Studies suggest that genetic factors are associated with the etiology of learning disabilities. Incontinentia Pigmenti (IP, OMIM#308300), which is caused by mutations of the IKBKG/NEMO gene, is a rare X-linked genomic disorder (1:10000/20:000) that affects the neuroectodermal tissues. It always affects the skin and sometimes the hair, teeth, nails, eyes and central nervous system (CNS). Data from IP patients demonstrate the heterogeneity of the clinical phenotype; about 30% have CNS manifestations. This extreme variability suggests that IP patients might also have learning disabilities. However, no studies in the literature have evaluated the cognitive profile of IP patients. In fact, the learning disability may go unnoticed in general neurological analyses, which focus on major disabling manifestations of the CNS. Here, we investigated the neuropsychological outcomes of a selected group of IP-patients by focusing on learning disabilities. We enrolled 10 women with IP (7 without mental retardation and 3 with mild to severe mental retardation) whose clinical diagnosis had been confirmed by the presence of a recurrent deletion in the IKBKG/NEMO gene. The participants were recruited from the Italian patients' association (I.P.A.SS.I. Onlus). They were submitted to a cognitive assessment that included the Wechsler Adult Intelligence scale and a battery of tests examining reading, arithmetic and writing skills. We found that 7 patients had deficits in calculation/arithmetic reasoning and reading but not writing skills; the remaining 3 had severe to mild intellectual disabilities. Results of this comprehensive evaluation of the molecular and psychoneurological aspects of IP make it possible to place “learning disabilities” among the CNS manifestations of the disease and suggest that the IKBKG/NEMO gene is a genetic determinant of this CNS defect. Our findings indicate the importance of an appropriate psychoneurological evaluation of IP patients, which includes early assessment of learning abilities, to prevent the onset of this deficit.
Pain after earthquake
Chiara Angeletti, Cristiana Guetti, Roberta Papola, Emiliano Petrucci, Maria Laura Ursini, Alessandra Ciccozzi, Francesca Masi, Maria Rosaria Russo, Salvatore Squarcione, Antonella Paladini, Joseph Pergolizzi, Robert Taylor, Giustino Varrassi, Franco Marinangeli
Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine , 2012, DOI: 10.1186/1757-7241-20-43
Abstract: This observational retrospective study evaluated the prevalence and drug treatment of pain in the five weeks following the L'Aquila earthquake (April 6, 2009).958 triage documents were analysed for patients pain severity, pain type, and treatment efficacy.A third of pain patients reported pain with a prevalence of 34.6%. More than half of pain patients reported severe pain (58.8%). Analgesic agents were limited to available drugs: anti-inflammatory agents, paracetamol, and weak opioids. Reduction in verbal numerical pain scores within the first 24 hours after treatment was achieved with the medications at hand. Pain prevalence and characterization exhibited a biphasic pattern with acute pain syndromes owing to trauma occurring in the first 15 days after the earthquake; traumatic pain then decreased and re-surged at around week five, owing to rebuilding efforts. In the second through fourth week, reports of pain occurred mainly owing to relapses of chronic conditions.This study indicates that pain is prevalent during natural disasters, may exhibit a discernible pattern over the weeks following the event, and current drug treatments in this region may be adequate for emergency situations.
TNF-alpha and insulin-resistance: metabolic effects of in vivo therapeutic blockade
F. Ursini
Reumatismo , 2011, DOI: 10.4081/reumatismo.2009.254
Abstract: Insulin resistance is a key pathophysiologic feature of obesity, type 2 diabetes mellitus and prediabetic states (impaired fasting glucose, impaired glucose tolerance). TNF-α, a proinflammatory cytokine, plays an important role in the pathogenesis of insulin resistance associated with inflammation during the course of rheumatic diseases. Therapies aimed at neutralizing TNF-α, such as the monoclonal antibody infliximab, represent a relatively new approach in the treatment of rheumatic diseases and allow to obtain significant results in terms of control of the inflammatory process. In this article we reviewed the scientific evidence published in the literature about a potential role of TNF-α blockade in improving insulin resistance in rheumatic patients without diabetes.
Molecular Evaluation of the Enterotoxigenicity of Clostridium difficile and Clostridium perfringens Swine Isolates by PCR Assays  [PDF]
Maria Cristina Ossiprandi, Laura Zerbini
Advances in Microbiology (AiM) , 2013, DOI: 10.4236/aim.2013.32024
Abstract:

Clostridium difficile and C. perfringens are enteric pathogens affecting a variety of mammals. This study evaluated the molecular enterotoxigenicity of Clostridium swine isolates by PCRs. One hundred and ten swine faeces were analyzed by culture assay. The faecal samples were from sixty-seven healthy animals and 43 with gastrointestinal tract disease. C. difficile strains were PCR-screened for the presence of tcdA/tcdB and cdtA/cdtB genes. All C. perfringens isolates were tested for the characterization of the toxinotype. Overall, sixty-five swine resulted positive: 38 for C. difficile and 17 for C. perfringens. One sample tested C. perfringens and C. difficile-positive, at the same time: on the whole, 39 C. difficile strains were isolated. Thirty-eight C. difficile isolates (all from healthy animals) resulted tcdA/tcdB and cdtA/cdtB-negative by PCRs and toxins A/B-negative by immunological tests. All C. perfringens strains were type A; eight were also cpb2-positive. In the sample (diarrhoeic), with double infection, C. difficile tested tcdA/tcdB and cdtA/cdtB-positive by PCRs and toxins A/B-positive by immunoassays; C. perfringens resulted cpb2-positive. The molecular genotypeing/toxinotyping should be applied to establish a final diagnosis and to assess properly the full implications and the epidemiological impact of these findings in particular in samples of healthy animals and aid in the development of effective intervention methods for controlling clostridial disease outbreaks.

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report
Maria Miano, Carmela Laperuta, Pietro Chiurazzi, Michele D'Urso, Matilde Ursini
BMC Medical Genetics , 2007, DOI: 10.1186/1471-2350-8-18
Abstract: We describe the coexistence in a large Italian kindred of Fragile X syndrome and familial POF in females with ovarian dysfunctions who carried normal or expanded FMR1 alleles. Genetic analysis of the FMR1 gene in over three generations of females revealed that six carried pre-mutated alleles (61–200), of which two were also affected by POF. However a young woman, who presented a severe ovarian failure with early onset, carried normal FMR1 alleles (<40). The coexistence within the same family of two dysfunctional ovarian conditions, one FMR1-related and one not FMR1-related, suggests that the complexity of familial POF conditions is larger than expected.Our case study represents a helpful observation and will provide familial cases with heterogeneous etiology that could be further studied when candidate genes in addition to the FMR1 premutation will be available.Premature ovarian failure [POF (MIM 311360)] is an early ovarian dysfunction characterized by cessation of menstruation before the age of 40 years [1]. About one in every 1,000 women between the ages of 15–29 and one in every 100 women between the ages of 30–39 are affected by POF [2]. The aetiology of this disorder is complex and the underlying genetic defects are largely unknown. Studies of pedigrees with a familial history of POF suggest that this condition may be inherited as an autosomal dominant sex-limited transmission or X-linked with incomplete penetrance [3-5]. It has been estimated that ~21% of familial POF cases are associated with expanded alleles of the Fragile X mental retardation [FMR1, FXS (MIM 309550)] gene [6-8].FMR1 is located at Xq27.3 and represents a dynamic mutational site because an unstable expansion of a trinucleotide (CGG)n repeat occurs at the 5' UTR of the gene [9]. Based on the number of repeats, four types of FMR1 alleles have been identified: 1) normal, ranging from 6 to 40; 2) grey-zone, from 41 to 60; 3) pre-mutated, from 61 to 200; and full mutation, exceeding 200. Once the
La cultura y los procesos de revalorización en el marco de la alfabetización: Nazareno - provincia de Salta
Laura,Maria;
Cuadernos de la Facultad de Humanidades y Ciencias Sociales. Universidad Nacional de Jujuy , 2004,
Abstract: this investigation work is an outline of the proyect called "breaking through the wall of silence". this proyect, has been developed at cuesta azul school in nazareno, a hidden an sleepy little town of west santa victoria in salta province, argentina. the name of the proyect is due to the particular geographic and social cultural setting of andean communities, as well as the lack of means of communication such as: radio, tape-recorders, television, computers and internet. moreover, there is no afluent communication among nazareno's inhabitants, as the most important difficulties with speaking, reading and writing skills. this investigation could be done in cooperation with the national university of salta, throughout its educational specialists and professionals, together with the undergraduated students from education science. the principal aim of the proyect was to improve the oral expression, reading and writing skills as well the geographic isolation, imposing a school radio. this radio allowed the students to manage the different communicative competences, so it was in this way that the peculiar habitat in being recognized as the place of their own culture as the knowledge of their idiosyncrasy. so, everything concerning to the cultural acts in the town were focused into the script radial which was in charge of broad casting all about nazareno's people. it was a good participation. they started to chat among themselves. they started to communicate each other. among the variables, this work has been developed into four chained steps: - firstly, the elaboration of the proyect,. all the conflicts and reflections were concentrated there, as part of the institutions and the community. - secondly, there was a concrete commitment among the responsible members in order to full fill all the tasks and operations written in the proyect. - thirdly, all the activities had been recorded by the investigators team, as well as the development of the proyect at school. - fourtly
A longitudinal study in atypical Cri-du chat profile: A single case report  [PDF]
Maria Rosa Pizzamiglio, Cristino Volpe, Laura Piccardi
Case Reports in Clinical Medicine (CRCM) , 2013, DOI: 10.4236/crcm.2013.22027
Abstract:

Background: Cri-du-Chat Syndrome (CdCS) is a rare genetic disorder characterized by a severe mental delay, minimal verbal abilities and severe learning difficulties. Methods: Here, we report two neuropsychological assessments of an Italian girl (FS) with CdCS who was affected by a moderate mental delay. The first assessment was made at 2.3 years and second at 6.5 years. Results: Her cognitive profile was characterized by a discrepancy between social-communicative and visual-motor skills. Specifically, her linguistic skills were better than her ability to copy a drawing or play with a set of building blocks. FS showed good lexical competence in both comprehension and production. Differently, her grammatical skills (i.e. comprehension and production) were somewhat defective. Conclusion: The FS’s case, due to her moderate mental delay and her preserved linguistic skills, allowed investigating some aspects of this syndrome never explored before.

Study of Cytotoxic and Genotoxic Effects of Hydroxyl-Functionalized Multiwalled Carbon Nanotubes on Human Pulmonary Cells
Cinzia Lucia Ursini,Delia Cavallo,Anna Maria Fresegna,Aureliano Ciervo,Raffaele Maiello,Stefano Casciardi,Francesca Tombolini,Giuliana Buresti,Sergio Iavicoli
Journal of Nanomaterials , 2012, DOI: 10.1155/2012/815979
Abstract: Chemical functionalization of multiwalled carbon nanotubes (MWCNTs) increases their solubility, dispersion, and biological applications. Since there are only a few studies on the toxicity of functionalized MWCNTs, we investigated the cytotoxic and genotoxic-oxidative effects of OH-functionalized MWCNTs on human lung epithelial cells (A549) in order to obtain information on their biological effects. We exposed the cells to 10, 20, 40, and 100 μg/mL of commercial MWCNT-OH for 24 h. Cytotoxicity was then evaluated as the reduction in cell viability, membrane damage, and apoptosis, assessed by MTT and LDH assays and fluorescence microscopic analysis, respectively. The Fpg-modified comet assay was used to assess direct/oxidative DNA damage. We found a concentration-dependent reduction in cell viability and an increase of percentage of apoptotic cells, with no significant cellular LDH release. There was also concentration-dependent direct DNA damage but no oxidative DNA damage. These findings demonstrate the cytotoxicity of MWCNT-OH, through reduction of cell viability and induction of apoptosis without cell membrane damage, and the genotoxicity, by direct DNA damage induction, suggesting that the MWCNTs enter the cell without damaging its membrane and directly interact with the nucleus. This preliminary study highlights the need for further research to examine the potential toxicity of functionalized MWCNTs before starting to use them in biological applications.
Selective formation of a triangulo-irondiplatinum cluster
Ursini, Cleber V.;Dias, Gilson H.M.;Gambardella, Maria T.P.;Santos, Regina H. A.;
Journal of the Brazilian Chemical Society , 1997, DOI: 10.1590/S0103-50531997000500005
Abstract: the trinuclear platinum cluster pt3(m-cnbut)3(cnbut)3 reacts selectively with the monodentate dppm-iron complex fe(dppm-p)(co)4 (1:1 or 2:1 ratios of pt:fe) dppm = bis(diphenylphosphino)methane, to give the mixed-metal cluster fept2(m-dppm)(cnbut)2(co)4. a single-crystal x-ray diffraction study established the structure of an isosceles triangular fept2 core with short pt-pt 2.5756(5) ?, fe-pt(1) 2.559(2) ? and fe-pt(2) 2.565(3) ? bond lengths, and with the two platinum atoms bridged by the dppm ligand. cell data: monoclinic, p21/n, a = 11.031(1) ?, b = 20.593(3) ?, c = 18.129(2) ?, b = 91.32(1) °, dc (z = 4) = 1.789 mg m-3. least-squares refinement based on 4171 reflections converged to a final r = 0.0508 and rw = 0.0558. the ir and nmr spectra (1h, 13c-{1h}, 31p-{1h}, and 195pt-{1h}) of the cluster are also reported and discussed.
Ressonancia magnética nuclear de platina-195 em compostos organometálicos
Ursini, Cleber Vinicius;
Química Nova , 1997, DOI: 10.1590/S0100-40421997000100009
Abstract: a brief review of 195pt nmr is presented, focusing organometallic compounds. this article gives initially basic information of nmr processes involving 195pt nucleus. it is followed by a discussion of the factors which affect the chemical shifts and coupling constants. finally, some aspects of 195pt nmr of solids are commented.
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