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2.
Cell ; 187(2): 390-408.e23, 2024 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-38157855

RESUMO

We describe a human lung disease caused by autosomal recessive, complete deficiency of the monocyte chemokine receptor C-C motif chemokine receptor 2 (CCR2). Nine children from five independent kindreds have pulmonary alveolar proteinosis (PAP), progressive polycystic lung disease, and recurrent infections, including bacillus Calmette Guérin (BCG) disease. The CCR2 variants are homozygous in six patients and compound heterozygous in three, and all are loss-of-expression and loss-of-function. They abolish CCR2-agonist chemokine C-C motif ligand 2 (CCL-2)-stimulated Ca2+ signaling in and migration of monocytic cells. All patients have high blood CCL-2 levels, providing a diagnostic test for screening children with unexplained lung or mycobacterial disease. Blood myeloid and lymphoid subsets and interferon (IFN)-γ- and granulocyte-macrophage colony-stimulating factor (GM-CSF)-mediated immunity are unaffected. CCR2-deficient monocytes and alveolar macrophage-like cells have normal gene expression profiles and functions. By contrast, alveolar macrophage counts are about half. Human complete CCR2 deficiency is a genetic etiology of PAP, polycystic lung disease, and recurrent infections caused by impaired CCL2-dependent monocyte migration to the lungs and infected tissues.


Assuntos
Proteinose Alveolar Pulmonar , Receptores CCR2 , Criança , Humanos , Pulmão/metabolismo , Macrófagos Alveolares/metabolismo , Proteinose Alveolar Pulmonar/genética , Proteinose Alveolar Pulmonar/diagnóstico , Receptores CCR2/deficiência , Receptores CCR2/genética , Receptores CCR2/metabolismo , Reinfecção/metabolismo
4.
Euro Surveill ; 22(5)2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28183395

RESUMO

We describe a case of severe swine influenza A(H1N1) virus infection in an immunocompetent middle-aged man in October 2016 in Italy who had only indirect exposure to pigs. The patient developed a severe acute distress respiratory syndrome which was successfully supported by extracorporeal membrane oxygenation and treated with antiviral therapy. The sole risk factor for influenza was a body mass index > 30 kg/m2. After a month of hospitalisation, the patient was discharged in good health.


Assuntos
Oxigenação por Membrana Extracorpórea , Imunocompetência , Vírus da Influenza A Subtipo H1N1/genética , Influenza Humana/complicações , Síndrome do Desconforto Respiratório/etiologia , Síndrome do Desconforto Respiratório/terapia , Adulto , Animais , Antibacterianos/uso terapêutico , Infecções Bacterianas/complicações , Infecções Bacterianas/tratamento farmacológico , Humanos , Vírus da Influenza A Subtipo H1N1/isolamento & purificação , Influenza Humana/virologia , Masculino , Dados de Sequência Molecular , Análise de Sequência de DNA , Sus scrofa , Resultado do Tratamento
6.
BMC Infect Dis ; 9: 137, 2009 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-19703294

RESUMO

BACKGROUND: Methicillin-resistant Staphylococcus aureus (MRSA) is one of the major nosocomial pathogens. Due to the diffusion of MRSA strains in both hospital and community settings, prevention and control strategies are receiving increased attention. Approximately 25% to 30% of the population is colonised with S. aureus and 0.2% to 7% with MRSA. The BD GeneOhm MRSA real-time PCR assay offers quicker identification of MRSA-colonised patients than do culture methods. METHODS: Ninety-five patients admitted to the Intensive Care Unit of IRCCS Policlinico San Matteo of Pavia (Italy) for a period > 24 h were screened for MRSA colonisation with both the culture method and the GeneOhm assay. RESULTS: Of the 246 nasal swabs collected from 95 patients, 36 samples were found to be positive by both methods (true-positive). 30% of colonised patients had developed the MRSA infection. CONCLUSION: Our results show that the GeneOhm MRSA assay is a valuable diagnostic tool for detecting MRSA quickly in nasal swabs. This study confirms that colonisation represents a high risk factor for MRSA infection, and that good MRSA surveillance in an Intensive Care Unit is therefore an excellent way to prevent MRSA infection.


Assuntos
Controle de Infecções/métodos , Unidades de Terapia Intensiva , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Reação em Cadeia da Polimerase/métodos , Infecções Estafilocócicas/prevenção & controle , Reações Falso-Negativas , Reações Falso-Positivas , Humanos , Cavidade Nasal/microbiologia , Sensibilidade e Especificidade , Infecções Estafilocócicas/diagnóstico , Infecções Estafilocócicas/epidemiologia
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