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1.
J Pediatr Hematol Oncol ; 35(7): e311-3, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23669731

RESUMO

BACKGROUND: The clinical manifestations of human metapneumovirus (hMPV) infection resemble those of respiratory syncytial virus with the most severe disease occurring in infants, the elderly, chronically ill, and immunocompromised hosts. OBSERVATION: We present a case of a 2-year-old girl undergoing intensive chemotherapy for Burkitt lymphoma who developed severe hMPV pneumonia. Rapid and complete recovery was observed after treatment with oral ribavirin and intravenous immunoglobulin. CONCLUSION: As hMPV can cause severe pneumonia in immunocompromised patients and due to the reports of effective treatment with ribavirin, clinical studies to elucidate the role of ribavirin in treatment of hMPV pneumonia may be needed.


Assuntos
Antivirais/uso terapêutico , Hospedeiro Imunocomprometido , Imunoglobulinas Intravenosas , Metapneumovirus , Infecções por Paramyxoviridae/terapia , Pneumonia Viral/terapia , Ribavirina/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Antivirais/administração & dosagem , Linfoma de Burkitt/tratamento farmacológico , Linfoma de Burkitt/imunologia , Pré-Escolar , Feminino , Humanos , Infecções por Paramyxoviridae/diagnóstico , Infecções por Paramyxoviridae/imunologia , Pneumonia Viral/diagnóstico , Pneumonia Viral/imunologia , Ribavirina/administração & dosagem , Resultado do Tratamento
2.
J Clin Microbiol ; 49(3): 1179-81, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21227992

RESUMO

Human bocavirus is a recently described respiratory pathogen. A case of a life-threatening human bocavirus infection of a previously healthy pediatric patient is described. An initial clinical presentation of acute bronchiolitis developed into an extremely severe course of disease characterized by pneumothorax, pneumomediastinum, and acute respiratory failure with pronounced air-leak syndrome.


Assuntos
Bocavirus Humano/isolamento & purificação , Infecções por Parvoviridae/diagnóstico , Infecções por Parvoviridae/patologia , Bronquiolite/complicações , Bronquiolite/diagnóstico , Bronquiolite/patologia , Bronquiolite/virologia , DNA Viral/química , DNA Viral/genética , Feminino , Humanos , Lactente , Enfisema Mediastínico/complicações , Enfisema Mediastínico/diagnóstico , Enfisema Mediastínico/patologia , Dados de Sequência Molecular , Plasma/virologia , Pneumotórax/complicações , Pneumotórax/diagnóstico , Pneumotórax/patologia , Insuficiência Respiratória , Análise de Sequência de DNA , Carga Viral
3.
Pflugers Arch ; 439(Suppl 1): r063-r065, 2000 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28176076

RESUMO

More than 800 mutations have been indentified in the CFTR gene. This vast mutation diversity makes the search for molecular defects in cystic fibrosis difficult. Out of 100 Slovenian CF families, we have screened 30, using DGGE and SSCP as mutation detection techniques, while the remaining 70 have been studied previously. Together our and the previous studies have been able to indentify 18 CF mutations which cover 77.6% of the CF alleles in those families. The relative frequency of ΔF508 is 62.7% which is significantly higher than the average reported for the Mediterranean South European region (51.6%). At the same time, significant differences in mutation frequencies were found for the G542X, R1162X, W1282X, N1303K and 3905insT mutations. Several, otherwise rare mutations have been detected, such as: I148T, Q552X, 457TAT→G, R1006H, 2907delTT, 3667ins4, A559T and G576A. An interesting fact is that A559T was so far found mostly in CF patients of African-American origin. These results imply that a high heterogeneity of CF mutations occurs within the small population of Slovenia, consisting only of 2 million inhabitants. In view of the spectrum and frequencies of detected mutations, Slovenian population expresses characteristics of Mediterranean and central European countries, and at the same time shows also distinctive differences and unique region specific CF mutations (Q685X, D192G, S4X).

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