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Objetivo: Realizar o acompanhamento de crianças e adolescentes com Atrofia Muscular Espinhal (AME) e Distrofia Muscular de Duchenne (DMD) em um centro de referência, por meio de avaliações de parâmetros respiratórios e motores. Métodos: Conduziu-se 3 avaliações em um período de 24 meses, em pacientes até 15 anos, com DMD e AME. Avaliações respiratórias incluíram: parâmetros cardiorrespiratórios, força muscular respiratória, pico de fluxo de tosse e espirometria. Analisou-se a função motora por meio de escalas especificas: 1) Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) para crianças até 2 anos; 2) Medida da Função Motora (MFM-32) acima de 6 anos; 3) versão reduzida (MFM-20) para 2 a 6 anos. A análise estatística incluiu o teste de Shapiro-Wilk e utilizou-se ANOVA com Post Hoc de Bonferroni ou Friedman, e aplicou-se os coeficientes de Spearman ou Pearson. Resultados: Participaram 16 pacientes com mediana de idade de 6,5 anos, 12 com AME e 4 DMD. Houve diferença entre dados antropométricos, a frequência de crianças que não realizava fisioterapia reduziu (12,5%X6,3%) e houve aumento na adesão para técnica de empilhamento de ar (37,5%X43,8%). Uso de ventilação não invasiva se manteve igual, assim como parâmetros respiratórios e escalas motoras. Verificou-se forte correlação entre valor predito da capacidade vital forçada e escores MFM-20 e MFM-32. Conclusão: O acompanhamento ambulatorial de crianças com AME e DMD evidenciou relativa manutenção em parâmetros respiratórios e de função motora, o que pode ser atribuído a melhora na adesão de rotinas terapêuticas e aos cuidados em um centro de referência.
Objective: The aim of this study was to monitor children and adolescents with Spinal Muscular Atrophy(SMA) and Duchenne Muscular Dystrophy (DMD) at a referral center, through assessments of respiratory and motor parameters. Methods: 3 evaluations were conducted over a period of 24 months, in patients up to 15 years old, with DMD and SMA. Respiratory assessments included: cardiorespiratory parameters, respiratory muscle strength, peak cough flow and spirometry. Motor function was analyzed using specific scales: 1) Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) for children up to 2 years old; 2) Measurement of Motor Function (MFM-32) over 6 years; 3) reduced version (MFM-20) for 2 to 6 years. The statistical analysis included the Shapiro-Wilk test and ANOVA with Bonferroni or Friedman's Post Hoc was used, and the Spearman or Pearson coefficients were applied. Results: 16 patients with a median age of 6.5 years, 12 with SMA and 4 DMD participated. There was a difference between anthropometric data, the frequency of children who did not undergo physical therapy decreased (12.5%X6.3%) and there was an increase in adherence to the air stacking technique (37.5%X43.8%). Use of non-invasive ventilation remained the same, as did respiratory parameters and motor scales. There was a strong correlation between the predicted value of forced vital capacity and scores MFM-20 and MFM-32. Conclusion: Outpatient follow-up of children with SMA and DMD showed a relative maintenance of respiratory and motor function parameters, which can be attributed to the improvement in adherence to therapeutic routines and care in a reference center.
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A Distrofia muscular laminin subunit alpha 2 (DM LAMA2) é caracterizada pela deficiência da proteína da cadeia laminina α2, apresentando sintomas distróficos que progridem na infância. Objetivo: Apresentar dados da avaliação fisioterapêutica de uma criança com DM LAMA2 em acompanhamento ambulatorial. Métodos: Pesquisou-se em prontuário dados referentes às avaliações fisioterapêuticas de uma criança de 12 anos com diagnóstico de DM LAMA2 atendida em ambulatório especializado. A avaliação caracterizou-se por ausculta pulmonar, espirometria, verificação de parâmetros cardiorrespiratórios, análise do pico de fluxo de tosse (PFT), força muscular respiratória (FMR) e avaliação motora através da escala MFM-32. Resultados: Realizou-se três avaliações durante 9 meses. A paciente possui doença pulmonar restritiva, na primeira avaliação apresentou VEF1= 29% na espirometria e, comparando com a terceira avaliação obteve aumento de 1%, também houve aumento de 2% na relação VEF1/CVF, 5% no PEF e 11% no FEF25-75%. Na FMR, obteve-se valores de PImáx= 17,9% e PEmáx= 7,13% na primeira avaliação com aumento de 16,85% e 5,34% respectivamente, entre primeira e terceira avaliação. O PFT manteve-se em 0L/min em todas avaliações. Na primeira avaliação motora pontuou 25% no escore total da escala MFM-32, aumentando 3,12% na terceira avaliação. Ao longo do acompanhamento iniciou-se o uso da VNI noturna e introduzida a técnica de AS, buscando correção da hipoxemia, apneias noturnas, aumento do PFT e FMR. Conclusão: Paciente apresentou manutenção de parâmetros espirométricos, aumento de variáveis de FMR e função motora, sem piora do quadro. Possíveis resultados decorridos do acompanhamento multiprofissional e especializado.
Laminin subunit alpha 2 muscular dystrophy (DMLAMA2) is characterized by a deficiency of the α2 laminin chain protein, presenting dystrophic symptoms that progress in childhood. Objective: To present data from the physical therapy evaluation of a child with DMLAMA2 in outpatient follow-up. Methods: Medical records were searched for data referring to the physiotherapeutic evaluations of a 12-year-old child diagnosed with DMLAMA2 treated at a specialized outpatient clinic. The evaluation was characterized by pulmonary auscultation, spirometry, verification of cardiorespiratory parameters, analysis of peak cough flow (PFT), respiratory muscle strength (FMR) and motor evaluation using the MFM-32 scale. Results: Three evaluations were carried out during 9 months. The patient has restrictive disease, in the first evaluation she had FEV1= 29% in spirometry, compared to the third evaluation, she had an increase of 1%, there was also an increase of 2% in the FEV1/FVC ratio, 5% in the PEF and 11% in the FEF25-75%. In the FMR, values of MIP=17.9% and MEP= 7.13% were obtained in the first assessment, with an increase of 16.85% and 5.34%, respectively, between the first and third assessments. The PFT remained at 0L/min in all evaluations. In the first motor evaluation, it scored 25% in the total score of the MFM-32 scale, increasing 3.12% in the third evaluation. During the follow-up, the use of nocturnal NIV started and AS technique was introduced, seeking correction of hypoxemia, night apneas, increased PFT and FMR. Conclusion: Patient presented maintenance of spirometric parameters, increased FMR variables and motor function, without worsening the condition. Possible results from the multidisciplinary and specialized monitoring.
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BACKGROUND: Myeloid malignancies (MM) are heterogeneous when it comes to incidence rates and pathogenesis. These variation rates are important to generate hypotheses on causal aetiology. This study aimed to describe incidence and mortality patterns of MM among children, adolescents and young adults (cAYA) in Brazil and to evaluate trends in incidence and mortality rate overtime. METHODS: Data were extracted from a dataset of 15 Population-based Cancer Registries located in five Brazilian geographical regions and calculated by age-specific, crude, and age-standardized incidence (ASR) and mortality rates per million persons. Joinpoint regression analyses were performed for trends evaluations, regionally. Annual Percent Change (APC) and Average Annual Percent Change (AAPC) were also estimated. RESULTS: The overall ASR for incidence and mortality of MM in Brazil was 14.57 and 8.83 per million, respectively. The AML (non-APL AML and APL) incidence rate is 8.18 per million, whereas other MM subtypes altogether have an incidence rate of 2.62 per million, and not otherwise specified (NOS) is 3.70 per million. The analysis of incidence trends (AAPC) showed a significant decline in Manaus (-5.6%) and São Paulo (-4.7%), and a significant increase was observed in Fortaleza (5.8%). Mortality trends steadily declined in all registries, with significant declines occurring in Goiânia (-1.5%), Belo Horizonte (-2.3%), São Paulo (-2.5%), Curitiba (-2.8%) and Porto Alegre (-4.1%). CONCLUSION: Our findings showed differences in the incidence and mortality rates of MM in cAYA in Brazil, geographically. Infants-AML have the highest incidence within the cAYA population (17.42 per million). There was a substantial decrease in mortality rate observed, which was interpreted as an improvement in MM recognition and therapeutic approach.
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Transtornos Mieloproliferativos/epidemiologia , Adolescente , Brasil , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Transtornos Mieloproliferativos/mortalidade , Sistema de RegistrosRESUMO
ABSTRACT Introduction: The human papillomavirus (HPV) is the main risk factor related to cervical cancer, the third most frequent type of cancer in Brazilian women. Early identification of high-risk HPV types in the normal cervix, or cervix with premalignant lesions may help prevent the progression of these lesions to cancer. Objective: This study aimed to detect and genotype HPV in women with low-grade intraepithelial lesion (LSIL) and atypical squamous cells of undetermined significance (ASC-US). Methods: Patients were selected from files of the cytology laboratory of Fundação Alfredo da Mata (FUAM), between January 2009 and July 2011, for cytological reassessment and HPV molecular detection with genotyping. Results: Out of the100 eligible patients, 70% (70/100) participated in the study; initially, 34 of them had ASC-US and 36 had LSIL. After cytological reassessment, eight (11.4%) patients showed normal cytology; 33 (47.2%), inflammatory lesions; 22 (31.4%), ASCUS; six (8.6%), LSIL; and one (1.4%), high-grade squamous intraepithelial lesions (HSIL). HPV was detected in 28.6% (20/70) of the samples. Out of the 20 HPV-positive patients, one had normal cytology, six showed inflammatory cytology, 10 showed ASCUS, two had LSIL and one, HSIL. After genotyping, the HPV types identified were: 6, 16, 58, 61, 70, 83, 84 and 85. The most prevalent HPV type was the 58. Conclusion: The presence of high-risk HPV in women with old cervical lesions, whether they have evolved or not, indicates the need to improve patient monitoring and surveillance. .
RESUMO Introdução: O papilomavírus humano (HPV) é o principal fator de risco relacionado com câncer cervical. A identificação precoce de tipos de HPV de alto risco em cérvice normal ou com lesões precursoras pode auxiliar a prevenir que essas lesões progridam para neoplasias malignas. Objetivos: Este estudo teve como objetivo detectar e genotipar o HPV em mulheres com resultado citológico de lesão intraepitelial escamosa de baixo grau (LSIL) e células escamosas atípicas de significado indeterminado (ASC-US). Métodos: Mulheres diagnosticadas com LSIL e ASC-US foram selecionadas a partir do arquivo de exames do Laboratório de Citologia da Fundação Alfredo da Matta (FUAM), em Manaus (AM), no período de janeiro de 2009 a julho de 2011, para reavaliação citológica, detecção molecular e genotipagem do HPV. A detecção molecular foi realizada pela técnica de nested reação em cadeia da polimerase (PCR); a genotipagem, por sequenciamento automático do ácido desoxirribonucleico (DNA). Resultados: Das 100 pacientes selecionadas, 70% (70/100) participaram do estudo, sendo que inicialmente 34 delas tinham resultado citológico de ASC-US e 36 de LSIL. Após reavaliação citológica, oito (11,4%) apresentaram citologia normal; 33 (47,2%), citologia inflamatória; 22 (31,4%), ASC-US; seis (8,6%), LSIL e uma (1,4%), lesão intraepitelial de alto grau (HSIL). O HPV foi detectado em 28,6% (20/70) das amostras examinadas. Das 20 pacientes HPV positivas, uma apresentou citologia normal; seis apresentaram citologia inflamatória; 10 exibiram ASC-US; duas, LSIL e uma, HSIL. Foram identificados os tipos de HPV 6, 16, 58, 61, 70, 83, 84 e 85, sendo o HPV 58 o mais prevalente. Conclusão: A presença de HPV de alto risco em mulheres com lesões cervicais antigas, tendo elas evoluído ou não, mostra a necessidade de maior acompanhamento e vigilância dessas pacientes. .
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This study describes the prevalence of infection by Chlamydia trachomatis, Neisseria gonorrhoeae and Trichomonas vaginalis in a female population in Amazonas, Brazil. We collected cervical samples from 361 women examined at 10 primary care health services in the city of Coari, Amazonas, Brazil. The women were interviewed about socio-economic data, clinical history and sexual behaviour. Pelvic examinations were performed and cervical specimens were collected for detection of pathogens by PCR. The prevalence of infection was: 12.7% for Trichomonas vaginalis, 6.4% for Chlamydia trachomatis and 1.4% for Neisseria gonorrhoeae. There were no statistically significant associations between infections by any of the pathogens nor by any pathogen alone with any clinical variable, socio-demographic data or sexual behaviour. This study draws attention to the need for surveillance and possible need for screening for Chlamydia trachomatis, which often progresses asymptomatically. For the significant prevalence found, attention should also be given to asymptomatic infection by Trichomonas vaginalis, since this pathogen has recently been implicated as a risk factor for HIV infection.
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Infecções por Chlamydia/epidemiologia , Chlamydia trachomatis/isolamento & purificação , Gonorreia/epidemiologia , Neisseria gonorrhoeae/isolamento & purificação , Vaginite por Trichomonas/epidemiologia , Trichomonas vaginalis/isolamento & purificação , Adulto , Brasil/epidemiologia , Infecções por Chlamydia/diagnóstico , Chlamydia trachomatis/genética , Feminino , Gonorreia/diagnóstico , Gonorreia/microbiologia , Humanos , Neisseria gonorrhoeae/genética , Reação em Cadeia da Polimerase , Prevalência , Atenção Primária à Saúde , Fatores de Risco , Comportamento Sexual , Infecções Sexualmente Transmissíveis/parasitologia , Vaginite por Trichomonas/parasitologia , Trichomonas vaginalis/genética , Adulto JovemRESUMO
There are limited data regarding prevalence of Chlamydia trachomatis infection among northern Brazilian pregnant women. OBJECTIVE: The purpose of this study was to estimate the prevalence of chlamydial infection among pregnant women in their third trimester and to determine the repercussion of this infection on their offspring. METHODS: In the first phase of this study 100 pregnant women receiving prenatal care in a local public university hospital were examined to assess the prevalence of genital C. trachomatis infection by polymerase chain reaction technique. In the second phase, 88 pregnant women were prospectively evaluated for premature rupture of membranes, puerperal consequences associated with chlamydial infection, and neonates were checked for low-birth weight. RESULTS: The prevalence rate of chlamydial infection was 11%, and 72.7% of the positive participants were predominantly less than 30 years of age (p = 0.1319). A total of 36.4% of the participants had premature rupture of membranes (p = 0.9998). Neither low-birth weight infants nor preterm delivery were observed. A cohort of 16 newborn babies were followedup up to 60 days of life to ascertain outcome: 50% had respiratory symptoms. Neonates born to infected mothers had a higher risk to develop respiratory symptoms in the first 60 days of life. CONCLUSION: The scarcity of data about the effects of chlamydial infection on pregnancy and neonatal outcomes justified this study. Diagnosing and treating chlamydial infection during the third trimester of pregnancy may prevent neonate infection. Therefore, preventive screening should be seen as a priority for early detection of asymptomatic C. trachomatis infection as part of local public health strategies.
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Adulto , Feminino , Humanos , Recém-Nascido , Gravidez , Infecções por Chlamydia/epidemiologia , Chlamydia trachomatis/isolamento & purificação , Complicações Infecciosas na Gravidez/epidemiologia , Diagnóstico Pré-Natal/estatística & dados numéricos , Brasil/epidemiologia , Infecções por Chlamydia/diagnóstico , Ruptura Prematura de Membranas Fetais/microbiologia , Recém-Nascido de Baixo Peso , Recém-Nascido Prematuro , Reação em Cadeia da Polimerase , Resultado da Gravidez , Prevalência , Complicações Infecciosas na Gravidez/diagnósticoRESUMO
The aim of this study was to determine the prevalence of human papillomavirus (HPV) in a women population living within the state of Amazonas, Brazil, and to determine the viral genotypes found. The study included 361 sexually active women over 18 years of age. We performed the Pap test and the molecular diagnosis for HPV DNA using polymerase chain reaction (PCR). The amplicons obtained were sequenced in automatic sequencer for genotyping. The presence of HPV DNA was found in 29.1% (105) of the women. Only 321 women presented satisfactory slides for cytological diagnosis, 97.9% (314) had normal cytology (negative for cancer), and 2.1% (7) had abnormal cytology (4 ASCUS, 1 LSIL, and 2 HSIL). The types more frequently found were HPV 16 (58.1%) and HPV 58 (20.0%). Additionally, we found more 13 types of HPV. Compared with previous studies in Brazil, our data confirmed a high prevalence and genotypic diversity of HPV in Brazilian women.
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Papillomaviridae/genética , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/virologia , Adulto , Brasil/epidemiologia , Feminino , Genótipo , Humanos , Papillomaviridae/isolamento & purificação , Prevalência , Neoplasias do Colo do Útero/epidemiologia , Neoplasias do Colo do Útero/virologia , Displasia do Colo do Útero/epidemiologia , Displasia do Colo do Útero/virologiaRESUMO
UNLABELLED: There are limited data regarding prevalence of Chlamydia trachomatis infection among northern Brazilian pregnant women. OBJECTIVE: The purpose of this study was to estimate the prevalence of chlamydial infection among pregnant women in their third trimester and to determine the repercussion of this infection on their offspring. METHODS: In the first phase of this study 100 pregnant women receiving prenatal care in a local public university hospital were examined to assess the prevalence of genital C. trachomatis infection by polymerase chain reaction technique. In the second phase, 88 pregnant women were prospectively evaluated for premature rupture of membranes, puerperal consequences associated with chlamydial infection, and neonates were checked for low-birth weight. RESULTS: The prevalence rate of chlamydial infection was 11%, and 72.7% of the positive participants were predominantly less than 30 years of age (p=0.1319). A total of 36.4% of the participants had premature rupture of membranes (p=0.9998). Neither low-birth weight infants nor preterm delivery were observed. A cohort of 16 newborn babies were followed-up up to 60 days of life to ascertain outcome: 50% had respiratory symptoms. Neonates born to infected mothers had a higher risk to develop respiratory symptoms in the first 60 days of life. CONCLUSION: The scarcity of data about the effects of chlamydial infection on pregnancy and neonatal outcomes justified this study. Diagnosing and treating chlamydial infection during the third trimester of pregnancy may prevent neonate infection. Therefore, preventive screening should be seen as a priority for early detection of asymptomatic C. trachomatis infection as part of local public health strategies.
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Infecções por Chlamydia/epidemiologia , Chlamydia trachomatis/isolamento & purificação , Complicações Infecciosas na Gravidez/epidemiologia , Diagnóstico Pré-Natal/estatística & dados numéricos , Adulto , Brasil/epidemiologia , Infecções por Chlamydia/diagnóstico , Feminino , Ruptura Prematura de Membranas Fetais/microbiologia , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Reação em Cadeia da Polimerase , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Resultado da Gravidez , PrevalênciaRESUMO
OBJETIVO: Testar a presença de DNA de Citomegalovírus Humano (HCMV) e Herpesvírus Simples tipo 2 (HSV-2) em amostras cervicais de mulheres atendidas em um serviço de atenção primária à saúde no município de Coari, Amazonas, Brasil. MÉTODOS: Participaram deste estudo 361 mulheres sexualmente ativas, variando entre 18 e 78 anos, atendidas em Unidades Básicas de Saúde para exame ginecológico de rotina. As amostras cervicais foram coletadas por meio de escova endocervical. A detecção dos vírus deu-se por meio de Reação em Cadeia da Polimerase (PCR) em tempo real. RESULTADOS: A média de idade das mulheres participantes foi de 36,4 anos (desvio-padrão (DP)=13,4). Foi encontrado DNA de HCMV em amostras cervicais de 30 mulheres (8,3%; IC95% 5,8 - 11,8) e de HSV-2 em 2 mulheres (0,6%; IC95% 0,1 - 2,2). Duas mulheres relataram ser portadoras do HIV, estando uma delas infectada com o HCMV. Não foram encontradas associações estatisticamente significativas entre a infecção pelos patógenos estudados e as variáveis socioeconômicas, clínicas e comportamentais. CONCLUSÕES: A prevalência de infecção pelo HCMV encontrada na amostra estudada chama a atenção para a necessidade do rastreio desse vírus na gestação e da vigilância nos pacientes imunocomprometidos. A baixa prevalência do HSV-2 deve-se provavelmente ao fato de a amostra cervical não ser adequada para este tipo de estudo por causa das características da biologia viral relacionadas à neurolatência.
PURPOSE: To detect the presence of Human Cytomegalovirus (HCMV) and Herpes Simplex Virus type 2 (HSV-2) DNA in cervical samples from women assisted in a primary health care clinic in the city of Coari, Amazonas, Brazil. METHODS: Participated in this study 361 sexually active women between 18 and 78 years. They were been assisted in a Basic Health Care Clinic for routine gynecological exam. The cervical samples were collected using endocervical brush. The viruses were detected using real-time Polymerase Chain Reaction (PCR) technique. RESULTS: Mean age was 36.4 years (standard deviation (SD)=13.4). HCMV DNA was found in cervical samples from 30 women (8.3%; IC95% 5.8 - 11.8) and HSV 2 DNA in 2 women (0.6%; IC95% 0.1 - 2.2). Two women related being HIV positive, one of them infected with HCMV. There were no statistically significant associations between infections by the pathogens studied and socioeconomic, clinical or behavioral variables. CONCLUSIONS: The prevalence of the HCMV infection found in the sample points to the need for screening of the virus during pregnancy and surveillance in immunocompromised patients. The low prevalence of HSV-2 found is probably due to the fact that cervical sampling is not appropriate for this type of study because of the characteristics of viral biology related to neurovirulence.
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Adolescente , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Adulto Jovem , Colo do Útero/virologia , Citomegalovirus/isolamento & purificação , Estudos Transversais , PrevalênciaRESUMO
PURPOSE: To detect the presence of Human Cytomegalovirus (HCMV) and Herpes Simplex Virus type 2 (HSV-2) DNA in cervical samples from women assisted in a primary health care clinic in the city of Coari, Amazonas, Brazil. METHODS: Participated in this study 361 sexually active women between 18 and 78 years. They were been assisted in a Basic Health Care Clinic for routine gynecological exam. The cervical samples were collected using endocervical brush. The viruses were detected using real-time Polymerase Chain Reaction (PCR) technique. RESULTS: Mean age was 36.4 years (standard deviation (SD)=13.4). HCMV DNA was found in cervical samples from 30 women (8.3%; IC95% 5.8 - 11.8) and HSV 2 DNA in 2 women (0.6%; IC95% 0.1 - 2.2). Two women related being HIV positive, one of them infected with HCMV. There were no statistically significant associations between infections by the pathogens studied and socioeconomic, clinical or behavioral variables. CONCLUSIONS: The prevalence of the HCMV infection found in the sample points to the need for screening of the virus during pregnancy and surveillance in immunocompromised patients. The low prevalence of HSV-2 found is probably due to the fact that cervical sampling is not appropriate for this type of study because of the characteristics of viral biology related to neurovirulence.