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1.
BMC Pediatr ; 14: 147, 2014 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-24923843

RESUMO

BACKGROUND: Cerebral venous sinus thrombosis (CVT) is a rare and potentially life-threatening condition in the pediatric population. The clinical presentation is frequently nonspecific; thus diagnosis is often delayed or missed. CASE PRESENTATION: A previously healthy 8 month-old boy was diagnosed with meningococcal meningitis. At hospital admission, an urgent non contrast-enhanced computed tomography (CT) of the head and neck was performed with normal results. Ceftriaxone was promptly started and the clinical condition of the patient improved. However, on the 7th day of hospitalization, the child suddenly manifested irritability and lethargy. An urgent contrast-enhanced CT of the head and neck was immediately performed, revealing thrombosis of the superior sagittal, transverse and rectus sinuses. A thrombophilic evaluation was performed, revealing hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) variants (C677T and A1298C). CONCLUSIONS: The causes of CVT may be categorized into three main groups: hypercoagulable states, conditions causing blood flow disturbances, and all causes of inflammation or infection. In this case report, we observed more than one risk factor that predisposed the patient to CVT. Consequently, even if a causative factor is detected, a thrombophilic blood evaluation should be performed. In fact, in case of a prothrombotic condition, the patient's family should be advised that prompt administration of anticoagulant is necessary in the event of situations that could lead to thrombosis. Finally, CVT may be considered a possible complication of infection even when recent imaging results are normal. A prompt CVT diagnosis is required to obtain a good outcome. Delayed diagnosis is mainly due to the rarity of the disease and physicians' unawareness of this type of complication.


Assuntos
Hiper-Homocisteinemia/diagnóstico , Meningite Meningocócica/complicações , Trombose dos Seios Intracranianos/complicações , Humanos , Hiper-Homocisteinemia/genética , Lactente , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Mutação , Trombose dos Seios Intracranianos/diagnóstico por imagem , Tomografia Computadorizada por Raios X
3.
Eur J Med Genet ; 59(8): 392-5, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27343989

RESUMO

OBJECTIVES: Results of epidemiological studies of lipid profiles in individuals with Down Syndrome (DS) in different settings showed discordant results but laboratory norms for this population has been lacking. The aim of our study is to evaluate lipid profiles in a large population of Italian children with DS. METHODS: Lipid profiles of 357 patients with diagnosis of DS were recorded. RESULTS: Multiple linear regression was employed to estimate models for each lipid fraction as a function of sex and age in patients with DS. CONCLUSIONS: The main contribution of this paper is to provide data about lipid profile on a large cohort of people with Down syndrome. Long-term surveillance will be crucial to establish if this specific lipid profile may translate into increased morbidity and mortality from cardiovascular diseases (CVD).


Assuntos
Síndrome de Down/sangue , Lipídeos/sangue , Criança , Pré-Escolar , Comorbidade , Síndrome de Down/epidemiologia , Síndrome de Down/mortalidade , Feminino , Humanos , Itália/epidemiologia , Masculino , Metaboloma , Metabolômica , Obesidade , Sobrepeso , Vigilância da População
4.
Ital J Pediatr ; 40: 31, 2014 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-24684865

RESUMO

BACKGROUND: During the last century, mass vaccination programs have achieved considerable success across the world in immunizing against several serious infectious diseases. However, vaccinations are threatened by their own success after results have been obtained: the more the incidence of potentially devastating diseases decreases, thanks to the success of vaccination programs, the more public attention shifts towards real or alleged "side effects" of vaccines. METHODS: We analyze the experience of 153 children with "reaction to a previous vaccine dose" continuing the vaccination protocol in the safe environment of the Center for risk vaccination at the Bambino Gesù Children's Hospital IRCCS in Rome, from 2009 to 2011. RESULTS: To assess the suitability for vaccination, a specialized pre-vaccination advice and a skin prick test (SPT) was undergone, according to Wood's guideline; 151 children were SPT negative and full vaccine was administered. Of the 153 children examined just 13 had symptoms suggestive of IgE-mediated reaction-type reactions with angioedema manifestations. Among them, 2 had positive STP, which required alternative measures of administration of the vaccine. No cases of post vaccination reaction was reported and no vaccination program was stopped due to a severe reaction. CONCLUSIONS: Inadequate levels of immunization against infectious diseases remain a significant problem for public health. However, the reasons for incomplete vaccination and non-adoption of vaccination services are manifold. To maintain public confidence in vaccines, advanced immunization programs must include activities for monitoring the safety of the vaccine at the individual level and pursuing specialized counseling pre-and post-vaccination for those at risk. Our results underlined a gap between true and referred adverse reactions and are consistent with vaccine safety. Anyway, a continuous assessment of the risks and benefits of vaccination is required and the results must be disclosed in order to strengthen confidence in the existing and in the new immunization programs.


Assuntos
Medição de Risco , Vacinação/efeitos adversos , Vacinas/efeitos adversos , Adolescente , Algoritmos , Criança , Pré-Escolar , Toxidermias/etiologia , Feminino , Hospitais Pediátricos , Humanos , Lactente , Itália/epidemiologia , Masculino , Estudos Retrospectivos , Testes Cutâneos , Vacinas/imunologia
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