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2.
Cell ; 187(2): 390-408.e23, 2024 01 18.
Artículo en Inglés | MEDLINE | ID: mdl-38157855

RESUMEN

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.


Asunto(s)
Proteinosis Alveolar Pulmonar , Receptores CCR2 , Niño , Humanos , Pulmón/metabolismo , Macrófagos Alveolares/metabolismo , Proteinosis Alveolar Pulmonar/genética , Proteinosis Alveolar Pulmonar/diagnóstico , Receptores CCR2/deficiencia , Receptores CCR2/genética , Receptores CCR2/metabolismo , Reinfección/metabolismo
4.
Euro Surveill ; 22(5)2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28183395

RESUMEN

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.


Asunto(s)
Oxigenación por Membrana Extracorpórea , Inmunocompetencia , Subtipo H1N1 del Virus de la Influenza A/genética , Gripe Humana/complicaciones , Síndrome de Dificultad Respiratoria/etiología , Síndrome de Dificultad Respiratoria/terapia , Adulto , Animales , Antibacterianos/uso terapéutico , Infecciones Bacterianas/complicaciones , Infecciones Bacterianas/tratamiento farmacológico , Humanos , Subtipo H1N1 del Virus de la Influenza A/aislamiento & purificación , Gripe Humana/virología , Masculino , Datos de Secuencia Molecular , Análisis de Secuencia de ADN , Sus scrofa , Resultado del Tratamiento
6.
BMC Infect Dis ; 9: 137, 2009 Aug 24.
Artículo en Inglés | MEDLINE | ID: mdl-19703294

RESUMEN

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.


Asunto(s)
Control de Infecciones/métodos , Unidades de Cuidados Intensivos , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Reacción en Cadena de la Polimerasa/métodos , Infecciones Estafilocócicas/prevención & control , Reacciones Falso Negativas , Reacciones Falso Positivas , Humanos , Cavidad Nasal/microbiología , Sensibilidad y Especificidad , Infecciones Estafilocócicas/diagnóstico , Infecciones Estafilocócicas/epidemiología
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