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Francesca Avemaria, Paola Carrera, Annunziata Lapolla, Giovanni Sartore, Nino Cristiano Chilelli, Renata Paleari, Alessandro Ambrosi, Maurizio Ferrari, Andrea Mosca
Diabetes mellitus is a global pandemic and continues to increase in numbers and significance. Several pathogenic processes are involved in the development of such disease and these mechanisms could be influenced by genetic, epigenetic and environmental factors. Non-enzymatic glycation reactions of proteins have been strongly related to pathogenesis of chronic diabetic complications. The identification of fructosamine 3-kinase (FN3K), an enzyme involved in protein deglycation, a new form of protein repair, is of great interest...
August 2015: Clinical Chemistry and Laboratory Medicine: CCLM
C Tarlarini, C Lunetta, L Mosca, F Avemaria, N Riva, V Mantero, E Maestri, A Quattrini, M Corbo, M G Melazzini, S Penco
BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Approximately 5%-10% of cases are familial (FALS) and the remaining are sporadic (SALS). To date FUS mutations are responsible for 4%-6% of familial cases as well as 0.7%-1.8% of sporadic cases. METHODS: The frequency of FUS mutations was investigated in an Italian cohort of 500 SALS and 40 FALS patients through direct sequencing of exons 5, 6, 13, 14 and 15. RESULTS: Eight FUS mutation carriers were identified in five SALS (1%) and three FALS (7...
November 2015: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Claudia Ricci, Ricci Claudia, Stefania Battistini, Battistini Stefania, Francesca Avemaria, Avemaria Francesca, Michele Benigni, Benigni Michele, Claudia Tarlarini, Tarlarini Claudia, Fabio Giannini, Giannini Fabio, Massimo Corbo, Corbo Massimo, Christian Lunetta, Lunetta Christian, Silvana Penco, Penco Silvana
Chromogranins were reported to interact specifically with mutant forms of superoxide dismutase that are linked to amyotrophic lateral sclerosis (ALS). Particularly, a variation c.1238C>T (p.Pro413Leu) in the chromogranin B gene, CHGB, has been associated with an earlier age at onset in both familial and sporadic ALS in French/French-Canadian populations studied. The aim of our study was to evaluate the P413L chromogranin variation in Italian patients with sporadic ALS. The study included 366 Italian patients with sporadic ALS and 382 control subjects...
September 1, 2015: Gene
Camden J Hallmark, Jennifer Skillicorn, Thomas P Giordano, Jessica A Davila, Marlene McNeese, Nestor Rocha, Avemaria Smith, Stacey Cooper, Amanda D Castel
BACKGROUND: Although funding has supported the scale up of routine, opt-out HIV testing in the US, variance in implementation mechanisms and barriers in high-burden jurisdictions remains unknown. METHODS: We conducted a survey of health care organizations in Washington, DC and Houston/Harris County to determine number of HIV tests completed in 2011, policy and practices associated with HIV testing, funding mechanisms, and reported barriers to testing in each jurisdiction and to compare results between jurisdictions...
2014: PloS One
C Lunetta, V A Sansone, S Penco, L Mosca, C Tarlarini, F Avemaria, E Maestri, M G Melazzini, G Meola, M Corbo
BACKGROUND AND PURPOSE: The occurrence of amyotrophic lateral sclerosis (ALS) during pregnancy is uncommon and the effect of one on the other is not well described. METHODS: The clinical and genetic features of five cases of ALS are reported with an onset during pregnancy or within 1 month from delivery. Charts from 239 women with a diagnosis of ALS attending the neuromuscular clinics at the Neuromuscular Omnicentre (NEMO) and at IRCCS Policlinico San Donato from 2008 to 2011 were reviewed...
April 2014: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Elke Bremus-Köbberling, Arnold Gillner, Frank Avemaria, Céline Réthoré, Stefan Bräse
Miniaturized microreactors enable photochemistry with laser irradiation in flow mode to convert azidobiphenyl into carbazole with high efficiency.
2012: Beilstein Journal of Organic Chemistry
Lorena Mosca, Silvana Pileggi, Francesca Avemaria, Claudia Tarlarini, Maria Sole Cigoli, Valeria Capra, Patrizia De Marco, Marco Pavanello, Alessandro Marocchi, Silvana Penco
Cavernous malformations are angiographically occult, low-pressure neurovascular lesions with distinct imaging and clinical characteristics; main clinical manifestations are seizure, focal neurological deficits and epileptic attacks. Here we describe the molecular characterization of an Italian child, a symptomatic patient, affected by multiple cerebral cavernous malformations, without a family history of the disease and harbouring a new MGC4607 gene mutation. We identified two de novo missense variants in exon 6 of the gene both present on the same allele (cis configuration)...
July 2012: Journal of Molecular Neuroscience: MN
Lorena Mosca, Christian Lunetta, Claudia Tarlarini, Francesca Avemaria, Eleonora Maestri, Mario Melazzini, Massimo Corbo, Silvana Penco
Mutations in the TARDBP gene are described as a cause of autosomal dominant amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD) with or without motor neuron involvement, and, recently, Parkinson's disease (PD). We hereby describe a family presenting the A382T mutation; two subjects were in the homozygous state, and two were in the heterozygous state. The index case, carrying the A382T mutation in the homozygous state, had an 8-year history of sporadic PD and 6 years later developed ALS and FTLD; his brother, carrying the same mutation in the homozygous state, and the other two family member carriers of the same mutation in the heterozygous state were without neurological signs and symptoms...
August 2012: Neurobiology of Aging
Francesca Avemaria, Christian Lunetta, Claudia Tarlarini, Lorena Mosca, Eleonora Maestri, Alessandro Marocchi, Mario Melazzini, Silvana Penco, Massimo Corbo
We report an Italian male with juvenile onset familial disease characterized by progressive weakness and wasting of four limbs and prolonged survival. Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. Genetic analysis revealed a L389S mutation in the senataxin (SETX) gene.
May 2011: Amyotrophic Lateral Sclerosis
Silvana Penco, Christian Lunetta, Lorena Mosca, Eleonora Maestri, Francesca Avemaria, Claudia Tarlarini, Maria Cristina Patrosso, Alessandro Marocchi, Massimo Corbo
We report different clinical expression in seven members of a large family with amyotrophic lateral sclerosis (ALS) and the G93D mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene. The ALS clinical course in the proband showed an unusually fast progression of the disease compared to the paucisymptomatic presentation associated to this mutation in the two previously Italian families described. The remaining mutation carriers did not show the aggressive clinical course displayed by the proband. We selected few genes known to be ALS modifiers searching for genetic variants that could explain the wide phenotypic diversity within the family...
May 2011: Journal of Molecular Neuroscience: MN
Victor F Scott, Amy Sitapati, Sayyida Martin, Pamela Summers, Michael Washington, Fernando Daniels, Charles Mouton, George Bonney, Victor Apprey, Virginia Webster, Avemaria Smith, Geoffrey Mountvarner, Monica Daftary, Celia J Maxwell
BACKGROUND: Howard University Hospital (HUH) is the first hospital in the nation to have instituted a hospital-wide routine rapid HIV screening campaign as recommended by the CDC for healthcare settings. METHODS: HUH developed a protocol and implemented a hospital-wide routine HIV screening in October 2006. Rapid oral fluid-based HIV testing was conducted throughout the hospital using the OraSure OraQuick Advance Rapid HIV-1/2 Antibody Test. Patients with a preliminarily reactive test result were either referred for confirmatory testing or offered a Western Blot confirmatory test on-site and referred for follow-up care...
2009: Transactions of the American Clinical and Climatological Association
Viktor Zimmermann, Frank Avemaria, Stefan Bräse
No abstract text is available yet for this article.
March 2007: Journal of Combinatorial Chemistry
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