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1.
Ann Ig ; 33(2): 201-202, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33570091

RESUMO

the SARS-CoV-2 pandemic started in December 2019 and still remains a major global health issue. Every country in the world has adopted drastic measures to contain the virus, although their stringency varies among countries, ranging from increased surveillance and focused interventions to strict lockdown (1). Italy was the second country where the disease had a major impact early in the pandemic, such that a strict nationwide lockdown was declared from March 9 to May 3, 2020. Nonetheless, between January and May 2020, there were 210,000 COVID-19 cases in Italy and 29,000 deaths were recorded (2). Due to the lockdown, universities (and in general all educational services) shifted to online classes, with students attending lessons and taking their exams from home. On-site activities were reduced to those considered indispensable. Research activities also had to be modified, such as by the adoption of a smart-working model (3). Between May and August 2020, the number of SARS-CoV-2 infections in Italy decreased. In response, the lockdown was loosened and some activities were restarted, albeit with specific safety protocols (social distancing, use of masks, temperature checks at the workplace entry, environmental disinfection, mixed models of smart and in-office work). These actions were accompanied by periodic serological and PCR screening tests (4).


Assuntos
COVID-19/prevenção & controle , Pandemias , SARS-CoV-2 , Universidades , COVID-19/epidemiologia , Controle de Doenças Transmissíveis/métodos , Humanos , Itália/epidemiologia , Máscaras , Distanciamento Físico , Vacinação
2.
J Med Genet ; 44(12): 800-8, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18055911

RESUMO

To estimate the contribution of single and multi-exon NF1 gene copy-number changes to the NF1 mutation spectrum, we analysed a series of 201 Italian patients with neurofibromatosis type 1 (NF1). Of these, 138 had previously been found, using denaturing high-performance liquid chromatography or protein truncation test, to be heterozygous for intragenic NF1 point mutations/deletions/insertions, and were excluded from this analysis. The remaining 63 patients were analysed using multiplex ligation-dependent probe amplification (MLPA), which allows detection of deletions or duplications encompassing >or=1 NF1 exons, as well as entire gene deletions. MLPA results were validated using real-time quantitative PCR (qPCR) or fluorescent in situ hybridisation. MLPA screening followed by real-time qPCR detected a total of 23 deletions. Of these deletions, six were single exon, eight were multi-exon, and nine were of the entire NF1 gene. In our series, deletions encompassing >or=1 NF1 exons accounted for approximately 7% (14/201) of the NF1 gene mutation spectrum, suggesting that screening for these should now be systematically included in genetic testing of patients with NF1.


Assuntos
Éxons/genética , Deleção de Genes , Dosagem de Genes , Genes da Neurofibromatose 1 , Neurofibromatose 1/genética , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Sistemas Computacionais , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/epidemiologia , Neurofibromatose 1/patologia , Técnicas de Amplificação de Ácido Nucleico , Fenótipo , Reação em Cadeia da Polimerase/métodos , Escoliose/epidemiologia , Escoliose/genética
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