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1.
Am J Hum Genet ; 104(2): 213-228, 2019 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-30639323

RESUMO

Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving TBX4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to TBX4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving TBX4 or FGF10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung.

2.
5.
Fetal Pediatr Pathol ; 33(2): 109-13, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24467188

RESUMO

Acinar dysplasia congenital alveolar dysplasia and alveolar capillary dysplasia with misalignment of pulmonary veins belong to the diffuse developmental disorders (congenital lung dysplasia), very rare fatal disorders of infancy that occur early in lung development. A case of quickly fatal congenital lung dysplasia in a full-term infant is presented and underlines the necessity to suspect this disease in a newborn suffering from severe and refractory respiratory distress.


Assuntos
Pulmão/anormalidades , Síndrome da Persistência do Padrão de Circulação Fetal/patologia , Alvéolos Pulmonares/anormalidades , Veias Pulmonares/anormalidades , Evolução Fatal , Humanos , Recém-Nascido , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/complicações , Alvéolos Pulmonares/patologia , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia
12.
Ital J Pediatr ; 36: 51, 2010 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-20670443

RESUMO

BACKGROUND: If children with community-acquired pneumonia (CAP) do not recover within 48 hours after starting antibiotic therapy, complications are possible and a checkup must be ensured.Aim of the present study was to evaluate the improvement of pediatric CAP, within 48 hours after starting therapy, in relation to age, etiology, clinical/laboratory characteristics and selected antibiotics. METHODS: Ninety-four children were treated for radiologically confirmed CAP, 64 by oral amoxicillin, 23 by intravenous ampicillin and 7 by other antibiotics. The etiology of CAP was studied by serology, data on more than 20 clinical characteristics were collected retrospectively, and antibiotics were selected on clinical grounds. RESULTS: After starting of antibiotics, the mean duration of fever was higher in children >or=5 than <2 or 2-4 years of age (p = 0.003). Fever continued >48 hours in 4 (4.3%) children and 2 additional children had empyema. Clinical, radiological and laboratory characteristics and serological findings were not significantly associated with the duration of fever. Fever continued >24 hours in 1 (4.8%) child treated with ampicillin and in 2 (8%) inpatients compared with 19 (28.8%) children treated with amoxicillin (p = 0.007) and 23 (33%) outpatients (p = 0.0012), respectively. CONCLUSIONS: Respiratory rate and erythrocyte sedimentation rates were associated with rapid decrease of fever. Anyway, none of the reported characteristics was able to predict treatment failures or delayed fever decrease in children suffering from CAP.


Assuntos
Infecções Comunitárias Adquiridas/fisiopatologia , Pneumonia Bacteriana/fisiopatologia , Pneumonia por Mycoplasma/fisiopatologia , Pneumonia Viral/fisiopatologia , Vigilância da População/métodos , Recuperação de Função Fisiológica , Anti-Infecciosos/uso terapêutico , Criança , Pré-Escolar , Infecções Comunitárias Adquiridas/tratamento farmacológico , Infecções Comunitárias Adquiridas/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Lactente , Itália/epidemiologia , Masculino , Pneumonia Bacteriana/tratamento farmacológico , Pneumonia Bacteriana/epidemiologia , Pneumonia por Mycoplasma/tratamento farmacológico , Pneumonia por Mycoplasma/epidemiologia , Pneumonia Viral/tratamento farmacológico , Pneumonia Viral/epidemiologia , Prognóstico , Estudos Retrospectivos , Fatores de Tempo , Adulto Jovem
13.
Acta Paediatr ; 99(11): 1602-8, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20573146

RESUMO

Community-acquired pneumonia (CAP) still remains a significant cause for childhood morbidity worldwide. Streptococcus pneumoniae is the most important causative agent at all ages. Respiratory syncytial virus is common in young children, and Mycoplasma pneumoniae in schoolchildren. Paediatric CAP is universally treated with antibiotics; amoxicillin is the drug of choice for presumably pneumococcal and a macrolide for presumably atypical bacterial cases. Because of globally increased resistances, macrolides are not safety for pneumococcal CAP. At present, available prospective research data on the epidemiology of paediatric CAP in western countries are from 1970s to 1980s; correspondingly, data on bacterial aetiology are mainly from 1980s to 1990s. Current concepts on pneumococcal aetiology are mostly based on poorly validated antibody assays. Most data on clinical characteristics in children's CAP, as well as on antibiotic treatment come from developing countries, thus not being directly applicable in western communities. Recent viral studies have revealed the role of rhinoviruses, metapneumovirus and bocavirus in the aetiology of paediatric CAP. This review critically summarizes the available data on epidemiology, aetiology, clinical presentation, treatment and outcome of CAP in children, with special focus on the newest microbial findings, the age and applicability of the data and the need of new studies.


Assuntos
Pneumonia , Criança , Infecções Comunitárias Adquiridas/diagnóstico , Infecções Comunitárias Adquiridas/epidemiologia , Infecções Comunitárias Adquiridas/etiologia , Infecções Comunitárias Adquiridas/terapia , Saúde Global , Humanos , Pneumonia/diagnóstico , Pneumonia/epidemiologia , Pneumonia/etiologia , Pneumonia/terapia , Resultado do Tratamento
14.
Pediatr Pulmonol ; 45(2): 120-6, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19960524

RESUMO

WORKING HYPOTHESIS: Human bocavirus (HBoV) is a newly identified parvovirus frequently found in children suffering from acute respiratory and intestinal infections. The aim of the present study was to evaluate, by using a newly developed antibody assay, the role of HBoV in pediatric community-acquired pneumonia (CAP) and the seropositivity rate to HBoV in a prospective study in North-Italian children. MATERIALS/PATIENTS AND METHODS: During a 15-month study period, 124 children were admitted due to presumptive pneumonia, and in 101 of them, pneumonia was radiologically confirmed. The etiology of CAP was studied by antibody assays to 16 microbes, including the newly developed enzyme immunoassay for HBoV. RESULTS: Serological evidence of acute HBoV infection was found in 12 (12%) children, being single in 7 and mixed in 5 cases (4 with other viruses and 3 with bacteria). IgM was positive in 11 cases. A diagnostic rise in IgG antibodies between paired sera was observed in six cases. HBoV was the second most common virus next to respiratory syncytial virus (17%). The seropositivity rate to HBoV increased with age, reaching nearly 100% before school age. CONCLUSIONS: The present results show that HBoV is able to induce significant antibody responses and suggest that HBoV may be a fairly common cause of pneumonia in children. Seroconversion to HBoV in most children takes place in early childhood.


Assuntos
Bocavirus Humano/isolamento & purificação , Infecções por Parvoviridae/diagnóstico , Pneumonia Viral/diagnóstico , Adolescente , Anticorpos Antivirais/sangue , Anticorpos Antivirais/imunologia , Infecções Bacterianas/diagnóstico , Infecções Bacterianas/imunologia , Criança , Pré-Escolar , Feminino , Bocavirus Humano/imunologia , Humanos , Técnicas Imunoenzimáticas , Imunoglobulina G/sangue , Imunoglobulina G/imunologia , Imunoglobulina M/sangue , Imunoglobulina M/imunologia , Lactente , Recém-Nascido , Itália , Masculino , Infecções por Parvoviridae/imunologia , Pneumonia Viral/imunologia , Vírus Sincicial Respiratório Humano/imunologia
16.
Pediatr Med Chir ; 31(4): 172-5, 2009 Jul-Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19839401

RESUMO

Phrenic nerve palsy generally is a jatrogenic damage of invasive neck and/or chest procedures in the pediatric age, but it does not represent a common complication of pleural empyema. One case of transient monolateral diaphragmatic paralysis following a decorticated pleural empyema is here reported. Common causes of the present disorder and its possible physiopathologic mechanisms are discussed, too.


Assuntos
Diafragma , Empiema Pleural/complicações , Doenças Musculares/etiologia , Paralisia/etiologia , Doenças do Sistema Nervoso Periférico/etiologia , Nervo Frênico , Criança , Humanos , Masculino
17.
Pediatr Int ; 51(1): 91-6, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19371285

RESUMO

BACKGROUND: Microbe-specific diagnosis of pediatric community-acquired pneumonia (CAP) and the distinction between typical-bacterial, atypical-bacterial and viral cases are difficult. The aim of the present study was to evaluate the role of four serum non-specific inflammatory markers and their combinations, supplemented by chest radiological findings, in the screening of bacterial etiology of pediatric CAP. METHODS: Serum procalcitonin (PCT), serum C-reactive protein (CRP), blood erythrocyte sedimentation rate (ESR) and white blood cell (WBC) counts were determined in 101 children with CAP, all confirmed on chest radiograph. Evidence of etiology was achieved in 68 patients (67%) mainly using a serologic test panel including 15 pathogens. RESULTS: For the combination of CRP > 100 mg/L, WBC count > 15 x 10(9)/L, PCT > 1.0 ng/mL and ESR > 65 mm/h, the likelihood ratio for a positive test result (LR+) was 2.7 in the distinction between pneumococcal and viral CAP and 3.9 between atypical and viral CAP. If there was a higher value in one of these four parameters (CRP > 200 mg/L, WBC count > 22 x 10(9)/L, PCT > 18 ng/mL or ESR > 90 mm/h) LR+ changed to >or=3.4, which means a significant increase from pre-test to post-test disease probability. An alveolar radiological infiltration was associated with higher values in non-specific inflammatory markers when compared with interstitial infiltrates, but there were no significant associations between radiological and etiological findings. CONCLUSIONS: CRP, WBC count, PCT and ESR or their combinations have a limited role in screening between bacterial and viral pediatric CAP. If all or most of these markers are elevated, bacterial etiology is highly probable, but low values do not rule out bacterial etiology.


Assuntos
Biomarcadores/sangue , Pneumonia Bacteriana/diagnóstico , Pneumonia Viral/diagnóstico , Sedimentação Sanguínea , Proteína C-Reativa/análise , Pré-Escolar , Infecções Comunitárias Adquiridas/diagnóstico , Feminino , Humanos , Contagem de Leucócitos , Masculino , Prolactina/sangue , Radiografia Torácica
18.
J Pediatr Endocrinol Metab ; 21(7): 657-64, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18780600

RESUMO

Clinical conditions characterized by sufficient biological stress may be associated with hyperglycemia. The aim of the present study was to evaluate whether stress induced by community-acquired pneumonia (CAP) is associated with disturbances in glucose metabolism in children. Plasma glucose was measured in 108 children with CAP. The relationships between plasma glucose and clinical/laboratory characteristics of CAP were studied by multiple linear regression. The etiology of CAP was determined by serological methods. Plasma glucose level was 100.3 +/- 21.2 mg/dl (mean +/- SD). Only one patient developed hyperglycemia (167 mg/dl), and hypoglycemia (< 60 mg/dl) was present in four patients (3.7%). Plasma glucose had a significant association only with body temperature. Hyperglycemia was rare, about 1%, and the severity or etiology of CAP was not predictive for plasma glucose levels. However, about 4% of the patients had hypoglycemia, which could be explained by reduced calorie intake during acute infection or by the effect of stress-induced cytokines.


Assuntos
Infecções Comunitárias Adquiridas/complicações , Hiperglicemia/complicações , Hipoglicemia/complicações , Pneumonia/complicações , Adolescente , Envelhecimento/fisiologia , Glicemia/metabolismo , Temperatura Corporal , Criança , Pré-Escolar , Infecções Comunitárias Adquiridas/sangue , Feminino , Humanos , Hiperglicemia/sangue , Hiperglicemia/epidemiologia , Hipoglicemia/sangue , Hipoglicemia/epidemiologia , Lactente , Mediadores da Inflamação/sangue , Itália/epidemiologia , Masculino , Pneumonia/sangue , Pneumonia/microbiologia , Pneumonia Bacteriana/microbiologia , Pneumonia Viral/virologia , Estudos Prospectivos , Caracteres Sexuais
19.
Scand J Infect Dis ; 40(10): 821-6, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18618373

RESUMO

Human metapneumovirus (hMPV) is a newly identified paramyxovirus causing lower respiratory tract infections (LRTI). Current knowledge on hMPV is mainly based on retrospective studies performed in stored respiratory and serum samples. We found 15 previous prospective clinical studies on LRTI (11 clinical and 4 epidemiological studies) that have been reviewed. Our aims were to analyse the role of hMPV in community acquired pneumonia (CAP) and the seroconversion rate to hMPV in a prospective study in North Italian children. During a 15-month study period, 124 children were admitted due to presumptive CAP and, in 116 of them, CAP was radiologically confirmed. The aetiology of CAP was assessed by serology to 15 microorganisms, including enzyme immunoassay to hMPV. hMPV infection was found in 5 children (4.9%), being single in 2 and mixed in 3 cases. The seroconversion rate to hMPV increased with age, reaching nearly 100% seropositivity rate at school age. In conclusion, hMPV caused 0% to 17.5% of LRTI cases in children in the mini-review. The figure was about 5% in the present and in the only earlier paediatric CAP study. Thus, hMPV is a real but rare cause of paediatric CAP, although seroconversion to hMPV in most children takes place in early childhood.


Assuntos
Metapneumovirus , Infecções por Paramyxoviridae/virologia , Pneumonia Viral/virologia , Infecções Respiratórias/virologia , Anticorpos Antivirais/análise , Criança , Pré-Escolar , Infecções Comunitárias Adquiridas/diagnóstico , Infecções Comunitárias Adquiridas/epidemiologia , Infecções Comunitárias Adquiridas/virologia , Feminino , Humanos , Técnicas Imunoenzimáticas , Imunoglobulina G/análise , Lactente , Itália/epidemiologia , Masculino , Metapneumovirus/imunologia , Metapneumovirus/isolamento & purificação , Metapneumovirus/patogenicidade , Infecções por Paramyxoviridae/diagnóstico , Infecções por Paramyxoviridae/epidemiologia , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Infecções Respiratórias/diagnóstico , Infecções Respiratórias/epidemiologia
20.
Pediatr Nephrol ; 23(12): 2247-53, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18607640

RESUMO

Studies focusing on serum sodium disorders in children with community-acquired-pneumonia (CAP) are nearly entirely lacking, though clinical experience suggests that at least hyponatremia (HN) might be rather common. We evaluated the incidence of hypo- and hypernatremia, in relation to other clinical, laboratory and etiological findings, in pediatric CAP. Serum sodium concentration was measured in 108 ambulatory and hospitalized children with radiologically confirmed CAP of variable severity. The etiology of CAP was revealed by serology in 97 patients. HN (serum sodium < 135 mmol/l) was present in 49 (45.4%) children, and it was mild (> 130 mmol/l) in 92% of the cases. On admission, hyponatremic patients had higher body temperature (38.96 degrees C vs 38.45 degrees C, P = 0.008), white blood cell count (21,074/microl vs 16,592/microl, P = 0.008), neutrophil percentage (78.93% vs 69.33%, P = 0.0001), serum C-reactive protein (168.27 mg/l vs 104.75 mg/l, P = 0.014), and serum procalcitonin (22.35 ng/ml vs 6.87 ng/ml, P = 0.0001), and lower calculated osmolality (263.39 mosmol/l vs 272.84 mosmol/l, P = 0.0001) than normonatremic ones. No association was found with plasma glucose, type of radiological consolidation or etiology of CAP. HN is common but usually mild in children with CAP. HN seems to be associated with the severity of CAP, assessed by fever, need of hospitalization and serum non-specific inflammatory markers.


Assuntos
Hiponatremia/complicações , Hiponatremia/epidemiologia , Pneumonia/complicações , Pneumonia/epidemiologia , Adolescente , Glicemia/metabolismo , Proteína C-Reativa/metabolismo , Calcitonina/sangue , Peptídeo Relacionado com Gene de Calcitonina , Criança , Pré-Escolar , Infecções Comunitárias Adquiridas/sangue , Infecções Comunitárias Adquiridas/complicações , Infecções Comunitárias Adquiridas/epidemiologia , Feminino , Febre/complicações , Febre/epidemiologia , Hospitalização , Humanos , Hiponatremia/sangue , Incidência , Lactente , Masculino , Pneumonia/sangue , Estudos Prospectivos , Precursores de Proteínas/sangue , Estudos Retrospectivos , Índice de Gravidade de Doença , Sódio/sangue
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