Laura Bergamino

Università degli Studi di Genova, Genova, Liguria, Italy

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Publications (4)11.22 Total impact

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    ABSTRACT: Human parechoviruses (HPeVs) are a new family of neurotropic viruses that cause central nervous system (CNS) infections similar to enterovirus (EVs) meningoencephalitis in the neonatal period, resulting in white matter lesions that can be visualized with cranial ultrasonography and magnetic resonance imaging, and correlated to a large spectrum of neurological outcomes. HPeV should be suspected in neonates with signs and symptoms of sepsis-like illness or CNS disease. We report a case of neonatal HPeV encephalitis, diagnosed on the basis of clinical and radiological findings and HPeV RT-PCR, with a good neurological outcome.
    Brain & development 01/2013; · 1.74 Impact Factor
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    ABSTRACT: Acute Necrotizing Encephalopathy (ANE) is a rare disorder characterized by fever, seizures and rapid progression to coma after the onset of a viral infection. Most cases are sporadic, however the observation of multiple cases in the same family with recurrent episodes of ANE led to the identification of a genetic form of the disorder, called ANE1, and to the discover of the causative mutation in RANBP2 gene. We report the first Italian child with ANE1 carrying the common c.1880C>T mutation in the RANBP2 gene, who presented three episodes of acute encephalopathy in the first two years of life. The child showed a less severe clinical and neuroradiological course with respect to the previously reported patients. During the acute encephalopathy episodes he was treated with steroids and immunoglobulin. A very low steroid maintenance therapy was administered after the second episode until the onset of the third. Thirty days after the last episode he started monthly intravenous immunoglobulin that might be used for prevention of viral infections. At the moment he is still continuing a low steroid maintenance therapy and monthly IVIG. We could hypothesize that the less severe clinical presentation of the third episode might be correlated to the steroid treatment or that the patient grew older. Despite there is no evidence to support that ANE1 is an immune-mediated disease, immunomodulatory therapy might be considered in the management of ANE1 cases especially in early childhood, in which a fatal course has been frequently reported. Further studies will be necessary to define the clinical, immunological and genetic aspects, as well as the outcome of immunomodulatory therapy in patients with ANE1.
    Brain & development 09/2011; 34(5):384-91. · 1.74 Impact Factor
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    ABSTRACT: The aim of this study was to give a support to the parents of the patients with apparent life threatening event (ALTE), to learn a correct management outside the protective environment of the hospital and a prevention such events. This was the 33rd edition of a training course called "Course of first aid and prevention of the accidents in infants", in which the recommendations of the Italian cardiopulmonary resuscitation's guidelines are treated. The course comprehended a short frontal lesson, a practice training and the compilation of a test to express one's satisfaction about the received training, using a points assessment from 1 to 10. The course included 385 participants (including any kind of person who may be in contact with infants) and 361 questionnaires were returned. Critical parameters were the scheme of teaching, the adequacy of contents, the teachers' technical and behavioral abilities, the adequacy of time and the communicative capacity. The learners demonstrated pleasure in variable percentages from 98% to 100%. The 79% of the learners felt the necessity to have some training again later on. Our positive experience allowed us to reflect about three concepts that we considered essential: communication, training and prevention. In fact, we think that prevention is infinitely potentiated from training and communication is its inalienable instrument.
    Minerva pediatrica 04/2011; 63(2):139-48. · 0.72 Impact Factor
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    ABSTRACT: Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations. To describe the clinical and molecular features of 3 Italian patients with POMGnT1 mutations. Case reports. One patient had muscle and brain abnormalities without eye involvement. Two patients had a classic muscle-eye-brain disease phenotype with different levels of clinical severity. Brain magnetic resonance imaging showed cortical malformation and posterior fossa involvement. Immunofluorescence for glycosylated alpha-dystroglycan performed on muscle biopsy specimens demonstrated an absent signal in 1 patient and reduced staining in 2 patients. Molecular analysis identified 5 mutations, 2 of which are novel. This article adds to what is known about the genotype-phenotype correlation and expands our awareness of the clinical spectrum associated with POMGnT1 mutations.
    JAMA Neurology 11/2006; 63(10):1491-5. · 7.01 Impact Factor