RESUMO
GATA2 mutations have been identified in various diseases, such as MonoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukaemia and dendritic cell, monocyte, B-cell and natural killer-cell deficiency. These syndromes present a wide range of clinical features, dominated by severe infections and haematological disorders such as myelodysplastic syndrome. Up to 70% of patients with GATA2 mutations have dermatological features, mainly genital or extragenital warts, panniculitis or erythema nodosum and lymphoedema. We report three patients presenting with common dermatological and haematological features leading to the diagnosis of GATA2 deficiency, but also with skin manifestations that have not been previously described: gingival hypertrophy, macroglossitis and glossitis and granulomatous lupoid facial lesions. Dermatologists can encounter patients with GATA2 mutations and should recognize this disorder.
Assuntos
Deficiência de GATA2/complicações , Fator de Transcrição GATA2/genética , Mutação/genética , Dermatopatias/genética , Adulto , Criança , Eritema Nodoso/genética , Dermatoses Faciais/genética , Feminino , Deficiência de GATA2/diagnóstico , Hipertrofia Gengival/genética , Glossite/genética , Humanos , Lúpus Eritematoso Cutâneo/genética , Linfedema/genética , Masculino , Adulto JovemRESUMO
BACKGROUND: A high frequency of virus infections has been recently pointed out in the exacerbations of asthma in children. OBJECTIVES: To confirm this, using conventional and molecular detection methods, and expanding the study to younger children. STUDY DESIGN: One hundred and thirty-two nasal aspirates from 75 children hospitalized for a severe attack of asthma were studied (32 infants, mean age 9.1 months; and 43 children, mean age 5.6 years). According to the virus, a viral isolation technique, immunofluorescence assays (IFA) or both were used for the detection of rhinovirus, enterovirus, respiratory syncytial (RS) virus, adenovirus, coronavirus 229E, influenza and parainfluenza virus. Polymerase chain reaction (PCR) assays were used for the detection of rhinovirus, enterovirus, RS virus, adenovirus, coronavirus 229E and OC43, Chlamydia pneumoniae and Mycoplasma pneumoniae. RESULTS: Using IFA and viral isolation techniques, viruses were detected in 33.3% of cases, and by PCR techniques, nucleic acid sequences of virus, Chlamydia pneumoniae and Mycoplasma pneumoniae were obtained in 71.9% of cases. The combination of conventional and molecular techniques detects 81.8% of positive samples. Two organisms were identified in the same nasal sample in 20.4% of the cases. The percentage of detections was higher (85.9%) in the younger group than in the other (77%). The most frequently detected agents were rhinovirus (46.9%) and RS virus (21.2%). Using PCR rather than conventional techniques, the detection rates were increased 5.8- and 1.6-fold in rhinovirus and RS virus infections, respectively. The detection levels of the other organisms are as follows: 9.8, 5.1, 4.5, 4.5, 4.5, 3.7, and 2.2% for enterovirus, influenza virus, Chlamydia pneumoniae, adenovirus, coronavirus, parainfluenza virus, and Mycoplasma pneumoniae, respectively. CONCLUSION: These results confirm the previously reported high frequency of rhinovirus detection in asthmatic exacerbations in children. They also point out the frequency of RS virus detection, and emphasize the fact that PCR assays may be necessary to diagnose respiratory infections in asthma.
Assuntos
Asma/complicações , Infecções por Chlamydia/complicações , Pneumonia por Mycoplasma/complicações , Infecções Respiratórias/complicações , Viroses/complicações , Vírus/isolamento & purificação , Adolescente , Asma/microbiologia , Asma/virologia , Criança , Pré-Escolar , Infecções por Chlamydia/diagnóstico , Infecções por Chlamydia/microbiologia , Chlamydophila pneumoniae/genética , Chlamydophila pneumoniae/isolamento & purificação , Imunofluorescência , Humanos , Lactente , Mycoplasma pneumoniae/genética , Mycoplasma pneumoniae/isolamento & purificação , Infecções por Picornaviridae/complicações , Infecções por Picornaviridae/diagnóstico , Infecções por Picornaviridae/virologia , Pneumonia por Mycoplasma/microbiologia , Reação em Cadeia da Polimerase/métodos , Infecções Respiratórias/diagnóstico , Viroses/diagnóstico , Viroses/virologiaRESUMO
Many studies have been dedicated to the prevention of infant and childhood asthma in recent years. Primary prevention begins during intra uterine life (maternal smoke, diet, allergen exposure). During the first year of life, prolonged breastfeeding has been found to be a protective factor against the development of allergy and asthma. The role of infections and lifestyle is controversial and it is not clear whether these factors reduce or increase the risk of asthma. Environmental measures such as avoidance of tobacco smoke and reducing allergens exposure must be recommended to infants with high risk of asthma.
Assuntos
Asma/prevenção & controle , Medicina Preventiva , Adulto , Alérgenos , Asma/etiologia , Pré-Escolar , Dieta , Meio Ambiente , Feminino , Humanos , Lactente , Recém-Nascido , Infecções/complicações , Estilo de Vida , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Fatores de Risco , Fumar/efeitos adversos , Poluição por Fumaça de Tabaco/efeitos adversosRESUMO
Viral respiratory tract infections are a major cause of wheezing in infants. Investigators determined that 80% to 85% of school-aged children with wheezing episodes were tested positive for virus. To more fully understand how viral respiratory tract infections influence asthma, investigators have evaluated the effect of respiratory tract infections on airway symptoms, function, and inflammation. Although the mechanisms by which respiratory viruses enhance lower airway inflammation are not established, cytokines may play a key role in this process. The respiratory epithelial cell is a principal host for respiratory virus replication and is likely to be the first source of cytokines during an acute infection. T cells orchestrate immune responses to both allergens and viruses, and regulate effector cells with virucidal and proinflammatory effects. Although studies demonstrate that virus-specific T cells may contribute to virus-induced lung disease, evidence to define the role of virus-specific T lymphocytes in asthma has not been fully established. Some infections early in life may also have an important immunoregulary role in the subsequent development of allergy and asthma. Atopy is characterised by exaggerated Th-2 cell responses to common allergens with secretion of cytokines such as IL-4 and IL-5 that promote IgE production and eosinophil activation. In contrast, childhood infections typically induce a Th-1 cell response, characterised by secretion of interferon-gamma, which enhances the antiviral activities of effector cells. These two types of T cell responses are mutually antagonistic.
Assuntos
Hipersensibilidade Respiratória/etiologia , Infecções Respiratórias/virologia , Doença Aguda , Asma/epidemiologia , Asma/etiologia , Asma/imunologia , Criança , Pré-Escolar , Citocinas/imunologia , Humanos , Lactente , Hipersensibilidade Respiratória/epidemiologia , Hipersensibilidade Respiratória/imunologia , Sons Respiratórios , Infecções Respiratórias/complicações , Infecções Respiratórias/epidemiologia , Fatores de Risco , Estações do Ano , Testes Cutâneos , Linfócitos T/imunologia , Linfócitos T Auxiliares-Indutores/imunologiaRESUMO
Wheezing associated with upper respiratory tract infections is common in children. Using conventional techniques (viral culture and immunofluorescence) and molecular techniques (PCR), we studied the prevalence of viral, Chlamydia pneumoniae (CP) and Mycoplasma pneumoniae (MP) infections in 118 children hospitalised for acute asthma exacerbation. A virus was identified by conventional techniques in 40 of the 118 nasal swabs (34%), while PCR allowed identification of virus CP and MP in 80 samples (68%). Combination of both techniques allowed identification of an infectious agent in 91 cases (77%). More than one agent was isolated in 15 cases (23%). Rhinovirus (RV) (45%) were prevalent, followed by respiratory syncytial virus (RSV) (28%) and enterovirus (8.5%). RV and RSV have a similar prevalence (42% and 36% respectively) before two years of age, as compared with 66% and 27% respectively in older children. CP and MP were identified by PCR in only 6 cases. Molecular techniques of identification demonstrated a clear advantage in sensitivity compared with conventional techniques. The high prevalence of RV and RSV infections is remarkable, while CP and MP do not seem particularly involved in children acute asthma exacerbation.
Assuntos
Asma/microbiologia , Asma/virologia , Infecções por Chlamydophila/complicações , Chlamydophila pneumoniae/patogenicidade , Mycoplasma pneumoniae/patogenicidade , Pneumonia por Mycoplasma/complicações , Viroses/complicações , Asma/epidemiologia , Pré-Escolar , Infecções por Chlamydophila/diagnóstico , Chlamydophila pneumoniae/genética , DNA Bacteriano/análise , DNA Viral/análise , Humanos , Incidência , Lactente , Recém-Nascido , Mycoplasma pneumoniae/genética , Pneumonia por Mycoplasma/diagnóstico , Sons Respiratórios/etiologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sensibilidade e EspecificidadeRESUMO
UNLABELLED: Nosocomial infections are a preoccupation in a pediatric hospital mainly during the winter with bronchiolitis and gastroenteritis epidemics. We have examined the risk factors of nosocomial infections. MATERIAL AND METHODS: A prospective study was conducted between November, 1999 and March, 2000 in the infants units of the Le Havre hospital. We systematically listed the admissions and contacted the family after their discharge by phone. A geographic information system was implemented to display the epidemiological data; this software is able to illustrate the sectors at risk. RESULTS: During the study, 687 infants were hospitalized of whom 458 for bronchiolitis and community-acquired gastroenteritis. Mean age was 5.4 months old. No nosocomial bronchiolitis occurred. Prevalence of nosocomial gastroenteritis was 10% (68 cases including nine after discharge). Infants with nosocomial infection were younger than those with community-acquired infection (6.6 months vs. 11.2 months, P < 0.01). The mean length of stay was longer in nosocomial infection (7.7 vs. 4.1 days, P < 0.05). Among the infants with bronchiolitis, 16% have developed nosocomial intestinal infections (RR = 2.65, IC: 1.59-4.4; P < 0.01). The geographic analysis pointed the area with nosocomial risk (bedroom without water, nearness of nurse office and games room). CONCLUSION: Geographic information system is a part of the quality control system and may have some interaction effect on final decision making. Incidence of nosocomial infections showed the need for a prevention strategy in a pediatric hospital.
Assuntos
Bronquiolite Viral/epidemiologia , Infecções Comunitárias Adquiridas/epidemiologia , Infecção Hospitalar/epidemiologia , Gastroenterite/epidemiologia , Hospitalização/estatística & dados numéricos , Infecções por Vírus Respiratório Sincicial/epidemiologia , Infecções por Rotavirus/epidemiologia , Distribuição por Idade , Bronquiolite Viral/etiologia , Bronquiolite Viral/prevenção & controle , Infecções Comunitárias Adquiridas/etiologia , Infecções Comunitárias Adquiridas/prevenção & controle , Infecção Hospitalar/etiologia , Infecção Hospitalar/prevenção & controle , Estudos Epidemiológicos , Feminino , França/epidemiologia , Gastroenterite/etiologia , Gastroenterite/prevenção & controle , Departamentos Hospitalares , Humanos , Incidência , Lactente , Controle de Infecções/organização & administração , Decoração de Interiores e Mobiliário , Tempo de Internação/estatística & dados numéricos , Masculino , Avaliação das Necessidades , Pediatria , Prevalência , Estudos Prospectivos , Garantia da Qualidade dos Cuidados de Saúde , Infecções por Vírus Respiratório Sincicial/etiologia , Infecções por Vírus Respiratório Sincicial/prevenção & controle , Fatores de Risco , Infecções por Rotavirus/etiologia , Infecções por Rotavirus/prevenção & controleRESUMO
Purpose.- Molecular processes can have a different impact on epidemiological data. Patients and methods. - The study covers 118 nasal aspirate samples taken on children hospitalized for acute asthma exacerbation for 2 years. Conventional techniques associated viral culture and immunofluorescence while molecular techniques used polymerase chain reaction (PCR). Results. - Virus presence was revealed with conventional techniques in 34% of the respiratory samples (40/118), while PCR study of viruses and genomes of Chlamydia pneumoniae and Mycoplasma pneumoniae allowed positive identification in 68% of the samples (80/118). The combination of both techniques allowed identification of an infectious agent in 77% of cases (91/118). More than one pathogenic agent was isolated in 23% of positive samples. Epidemiological study shows prevalence of rhinovirus (45%), then respiratory syncytial virus (28%) and enterovirus (8.5%). In children under 2 years of age, rhinovirus and respiratory syncytial virus have a close prevalence (respectively 42 and 36%), which is not the same result as in older children (respectively 66 and 27%). Moreover, PCR techniques allowed the identification of just a few Chlamydia pneumoniae and Mycoplasma pneumoniae (6/118). Conclusion. - In this study, molecular techniques of identification demonstrate a clear advantage in sensitivity compared to performances of viral cultures or immunofluorescence. The importance of rhinovirus and respiratory syncytial virus is remarkable while Chlamydia pneumoniae an Mycoplasma pneumoniae do not seem to be particularly involved.
RESUMO
Adenoviruses most commonly cause respiratory illness; however, depending on the infecting serotype, they may also cause various other diseases. Diagnosis may be difficult to achieve.The clinical findings for 116 children hospitalised with adenoviral infection were studied retrospectively. In 71 children, the diagnosis was based on detection of adenovirus antigen in the nasopharyngeal specimens and in 71 children on viral culture. The clinical picture of adenoviral infection was characterised by high-grade (mean 39°1C) and prolonged fever (mean duration 4,3 days). Upper respiratory and lower respiratory symptoms were the most common infections. Twelve had been admitted to the hospital due to febrile convulsions, 6 had meningitis. Laboratory findings varied from normal values to values seen in bacterial infections. Thus it was difficult to distinguish adenoviral disease from a bacterial disease. Fifty-nine children were referred to the hospital due to infection unresponsive to antimicrobial therapy.Symptoms of respiratory infection caused by adenovirus may range from the common cold syndrome to pneumonia, croup and bronchiolitis. Adenoviruses can be responsible for severe consequences, even in previously healthy children. Studies of the molecular mechanisms of viral infections of the airways could provide important insights into the nature of the inflammatory process involved in asthma and chronic obstructive pulmonary disease. Most infections are mild and require no therapy or only symptomatic treatment. There are at present time no recognised antiviral agents that are effective in treating serious adenovirus disease. The rapid detection of adenovirus antigen in nasopharygeal specimens proved to have a great clinical value in the diagnosis.
RESUMO
Iron deficiency remains a problem in developing countries as well as in industrial nations. The prevalence of iron deficiency in children under 5 years of age is identical in Europe and the USA, and is in the order of 7 to 9% on average with an anaemia prevalence of 2.3%. The major cause is dietary deficiency, particularly in premature babies, infants, teenagers, and children in unstable situations. It is important to prevent the development of anaemia, especially in infants, due to its morbid consequences particularly with respect to development. Screening and simple preventative measures (iron supplements and dietary advice) need to be systematically set up, particularly in at-risk populations, and are detailed in the present article.
Assuntos
Deficiências de Ferro , Adolescente , Anemia Ferropriva/epidemiologia , Anemia Ferropriva/prevenção & controle , Encéfalo/crescimento & desenvolvimento , Criança , Dieta , Suplementos Nutricionais , Humanos , Ferro/uso terapêutico , Fatores de Risco , Oligoelementos/uso terapêuticoRESUMO
Infantile fibrosarcoma is a rare malignant tumor that usually occurs during the 1st year of life. It accounts for approximately 5-10% of all sarcomas in infants younger than 1 year of age. It usually has indolent progression and metastatic spread is rare. We report the case of a patient who had infantile fibrosarcoma of the trunk. At birth, the baby presented a soft tissue mass of the scapulothoracic region. Histopathological examination after complete surgical resection at first suggested an angioma. Reanalysis of the histology after a metastatic relapse resulted in the diagnosis of infantile fibrosarcoma, which was confirmed by the presence of the specific translocation seen in infantile fibrosarcoma (ETV6/NTRK3). This patient's progression was uncommon because he developed 3 metastatic relapses. The treatment consisted of surgery, chemotherapy, and radiation therapy. The patient is alive with persistent complete remission. We discuss the diagnostic and therapeutic issues of infantile fibrosarcoma. There is a risk of erroneous diagnosis in newborn infants between benign angiomatous tumor and infantile fibrosarcoma. The fusion transcript ETV6-NTRK3 resulting from the specific chromosomal translocation t(12;15)(p13;q25) is now a useful diagnostic tool for infantile fibrosarcoma. Surgery with wide resection is the mainstay of treatment. However, infantile fibrosarcoma is a chemosensitive tumor. If initial surgery cannot be done without mutilation or is impossible, preoperative chemotherapy should be given. The role of radiation therapy is still debated.
Assuntos
Fibrossarcoma/secundário , Neoplasias de Tecidos Moles/patologia , Fibrossarcoma/diagnóstico , Fibrossarcoma/terapia , Humanos , Lactente , Recém-Nascido , Recidiva Local de Neoplasia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/terapia , TóraxAssuntos
Coristoma , Pâncreas , Gastropatias , Adolescente , Fatores Etários , Coristoma/diagnóstico , Coristoma/cirurgia , Feminino , Gastroscopia , Humanos , Lactente , Masculino , Gastropatias/diagnóstico , Gastropatias/cirurgiaRESUMO
An electron microscopic study of beech leaf white rot shows a certain number of characteristic developmental stages which are identical whether the material is from in vitro experimentation or from natural incubation. Endowed with a cellulolytic properly seemingly localized in the apical region only, hyphae of the white rot agent only traverse the plant cell walls. Subsequently, hyphae penetrate condensed protoplasmic residues and make them progressively transparent to electrons. During this discoloring process, a lethal factor of as yet unknown nature appears, affecting other microorganisms already present in the leaves. Phloem and xylem vascular bundles do not present notable ultrastructural modifications. Therefore, leaf discoloration is not due to an alteration of the xylem constituents but to changes having occurred in the condensed cytoplasmic residues of the dead tissues.