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Marina di Pisa, Italy

Musumeci O.,Messina University | Bruno C.,Muscle and Neurodegenerative Disease Unit | Mongini T.,A.O.S. Giovanni Battista | Rodolico C.,Messina University | And 7 more authors.
Neuromuscular Disorders | Year: 2012

Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia. We studied five patients with PFKM deficiency coming from different Italian regions. All probands showed exercise intolerance, hyperCKemia, cramps and myoglobinuria. One patient had a mild hypertrophic cardiomyopathy. Biochemical studies revealed residual PFK activity ranging from 1 to 5%. Molecular genetic analysis identified four novel mutations in the PFKM gene. In our series of patients, clinical and laboratory features were similar in all but one patient, who had an unusual phenotype characterized by 25. years disease history, high CK levels, hypertrophic cardiomyopathy with paroxysmal atrial fibrillation without fixed muscle weakness. © 2011 Elsevier B.V. Source

Raso A.,Neurosurgery Unit | Vecchio D.,Molecular Mutagenesis and DNA Repair Unit | Cappelli E.,Hematology Unit | Ropolo M.,Molecular Mutagenesis and DNA Repair Unit | And 8 more authors.
Brain Pathology | Year: 2012

Previous studies have shown that tumor-driving glioma stem cells (GSC) may promote radio-resistance by constitutive activation of the DNA damage response started by the ataxia telangiectasia mutated (ATM) protein. We have investigated whether GSC may be specifically sensitized to ionizing radiation by inhibiting the DNA damage response. Two grade IV glioma cell lines (BORRU and DR177) were characterized for a number of immunocytochemical, karyotypic, proliferative and differentiative parameters. In particular, the expression of a panel of nine stem cell markers was quantified by reverse transcription-polymerase chain reaction (RT-PCR) and flow cytometry. Overall, BORRU and DR177 displayed pronounced and poor stem phenotypes, respectively. In order to improve the therapeutic efficacy of radiation on GSC, the cells were preincubated with a nontoxic concentration of the ATM inhibitors KU-55933 and KU-60019 and then irradiated. BORRU cells were sensitized to radiation and radio-mimetic chemicals by ATM inhibitors whereas DR177 were protected under the same conditions. No sensitization was observed after cell differentiation or to drugs unable to induce double-strand breaks (DSB), indicating that ATM inhibitors specifically sensitize glioma cells possessing stem phenotype to DSB-inducing agents. In conclusion, pharmacological inhibition of ATM may specifically sensitize GSC to DSB-inducing agents while sparing nonstem cells. © 2012 The Authors; Brain Pathology © 2012 International Society of Neuropathology. Source

Codan B.,University of Trieste | Martinelli V.,Molecular Medicine Unit | Mestroni L.,Aurora University | Sbaizero O.,University of Trieste
Materials Science and Engineering C | Year: 2013

Mechanical properties of single cells are of increasing interest both from a fundamental cell biological perspective and in the context of disease diagnostics. In this respect, atomic force microscopy (AFM) has become a powerful tool for imaging and assessing mechanical properties of biological samples. However, while these tests are typically carried out on chemically fixed cells, the most important data is that on living cells. The present study applies AFM technique to assess the Young's modulus of two cell lines: mouse embryonic fibroblasts (NIH/3T3) and human epithelial cancer cells (SW-13). Both living cells and those fixed with paraformaldehyde were investigated. This analysis quantifies the difference between Young's modulus for these two conditions and provides a coefficient to relate them. Knowing the relation between Young's modulus of living and fixed cells, allows carrying out and comparing data obtained during steady-state measurements on fixed cells that are more frequently available in the clinical and research settings and simpler to maintain and probe. © 2013 Elsevier B.V. Source

Kohlrausch F.B.,Federal University of Fluminense | Kohlrausch F.B.,Federal University of Rio Grande do Sul | Severino-Gama C.,Federal University of Rio Grande do Sul | Lobato M.I.,Federal University of Rio Grande do Sul | And 3 more authors.
Psychiatry Research | Year: 2013

We evaluated two polymorphisms at CYP1A2 (*1C and *1F) in a sample of 108 European-derived patients with schizophrenia and their influence on the pro-convulsive effect of clozapine. We found the *1F/*1F genotype to be significantly associated with seizures, and no relationship was observed with combinations of *1F and *1C alleles. © 2013 Elsevier Ireland Ltd. Source

Reid A.B.,Infectious Diseases Unit | Anderson T.L.,Infectious Diseases Unit | Cooley L.,Infectious Diseases Unit | Williamson J.,Molecular Medicine Unit | McGregor A.R.,Infectious Diseases Unit
Pediatric Infectious Disease Journal | Year: 2011

We describe an outbreak of human rhinovirus type C infection in 7 infants in our neonatal/pediatric intensive care unit. Five infants had clinically significant apneic episodes and 5 required increased oxygen or ventilatory support. Infants shed virus detectable by polymerase chain reaction for a median of 4 weeks. © 2011 by Lippincott Williams & Wilkins. Source

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