Evaluation of Real Time PCR Aspergillus spp. in bronchoalveolar lavage samples.

The present study investigated the improvement in the diagnosis of invasive pulmonary aspergillosis (IPA) adding a molecular test on bronchoalveolar lavage (BAL) to the routine diagnostic approach including microscopy, culture and galactomannan (GM) immunoassay. A total of 133 BAL samples were retrospectively tested for the Aspergillus DNA: 112 samples were from immunocompromised patients at risk of invasive fungal infection and 21 were from patients not at risk and without clinical evidence of IPA. The latter samples were used to identify the cut-off of positivity for the molecular test. Applying the cut-off quantity of 50 copies/reaction, the PCR test had 90% sensitivity and 97% specificity and resulted the most sensitive, specific and accurate among those evaluated. The statistical analysis showed that the probability that a patient is not affected by IPA is 99% when the three tests (PCR, GM and culture) are concordantly negative.

Revisiting the history of autism before Kanner and Asperger: a tribute to Grunya Sukhareva.

Almost two decades before Kanner's and Asperger's works, the original paper by child psychiatrist Grunya Efimovna Sukhareva had already been written. It was published in 1926 by Sukhareva in a German scientific journal of psychiatry and neurology, with a detailed description of children who presented clinical conditions whose characteristics and evolution closely resemble autism, according to current criteria. In the present historical note, we intend to present Sukhareva's pioneering work and retrieve the meaning of her original contribution.

Quase duas décadas antes dos trabalhos de Kanner e Asperger, o artigo original da psiquiatra infantil Grunya Efimovna Sukhareva já havia sido escrito. Foi publicado por Sukhareva em 1926, em uma revista científica alemã de psiquiatria e neurologia, com uma descrição detalhada de crianças que apresentavam quadro clínico cujas características e evolução em muito se assemelham ao autismo, segundo os critérios atuais. Nesta nota histórica, pretende-se apresentar o trabalho pioneiro de Sukhareva e resgatar o significado da sua contribuição original.

Biomedicine and traditional Chinese medicine: a fruitful scientific and cultural interaction.

Over the years, the approach of traditional Chinese medicine has changed, as has the concept of the health status. Particularly in this article we will focus on the importance of some techniques that we can define millennial, as acupuncture. We will highlight the relationship between a millenary system and the principles of modernity, emphasizing the relevance of a technique that appears to be in line with the latest scientific research and numerous studies of effectiveness, proposing therapeutic integration as a usable way. We will see how acupuncture has an anti-inflammatory effect, and has a beneficial role in subjects suffering from allergic or autoimmune diseases, including an antihistamine action and downregulation of proinflammatory cytokines (e.g. IL-1ß, IL-6 and TNF-α). In addition, acupuncture could also act as an immunomodulatory agent, involving the neuroimmune network, T helper and natural killer cells. Traditional Chinese medicine, acupuncture in particular, is widely used within Western health systems and there are many studies done regarding its efficacy in the clinical field. In addition to scientific validation, however, a comparison on a cultural level is also necessary. To build a constructive dialogue, indeed, it is necessary to deconstruct the preconceptions and prejudices concerning both biomedicine and traditional Chinese medicine. In fact, only through deconstruction we can understand that biomedicine and traditional Chinese medicine are both culturally connoted knowledge. In this article it will first be underlined how clinical observations can be better understood if we pay attention to analyzing the cultural context of the medical systems that here interact with each other. (www.actabiomedica.it).

Revisiting the history of autism before Kanner and Asperger: a tribute to Grunya Sukhareva / Revisitando a história do autismo antes de Kanner e Asperger: um tributo a Grunya Sukhareva

Abstract Almost two decades before Kanner's and Asperger's works, the original paper by child psychiatrist Grunya Efimovna Sukhareva had already been written. It was published in 1926 by Sukhareva in a German scientific journal of psychiatry and neurology, with a detailed description of children who presented clinical conditions whose characteristics and evolution closely resemble autism, according to current criteria. In the present historical note, we intend to present Sukhareva's pioneering work and retrieve the meaning of her original contribution.

Resumo Quase duas décadas antes dos trabalhos de Kanner e Asperger, o artigo original da psiquiatra infantil Grunya Efimovna Sukhareva já havia sido escrito. Foi publicado por Sukhareva em 1926, em uma revista científica alemã de psiquiatria e neurologia, com uma descrição detalhada de crianças que apresentavam quadro clínico cujas características e evolução em muito se assemelham ao autismo, segundo os critérios atuais. Nesta nota histórica, pretende-se apresentar o trabalho pioneiro de Sukhareva e resgatar o significado da sua contribuição original.

Skin infection due to Alternaria species in kidney allograft recipients: report of a new case and review of the literature.

A kidney allograft recipient developed a cutaneous infection 29 months after transplantation, due to the dematiaceous fungus Alternaria infectoria on his right forearm and left leg. Since the lesions were too large to be excised, the patient was treated only with systemic itraconazole and a reduction of the immunosuppressive therapy. After 4 months, the lesions were completely healed, and no relapses were observed at follow-up of 22 months. Twenty-seven other cases of cutaneous alternariosis have been described so far in renal transplant recipients. All types of immunosuppressive treatment can be associated with Alternaria infection, for which predisposing factors are jobs with frequent contact with earth, diabetes mellitus and skin trauma. In 70% of cases the infection occurred within the first year after transplantation. More frequently the lower limbs were involved and the lesions were multiple. Alternaria alternata was the commonest causative agent, followed by Alternaria tenuissima,Alternaria infectoria and Alternaria chartarum. The treatment is far from being standardized, but the best results are obtained with the surgical excision of the lesion(s) associated with systemic antifungal therapy. Since relapses are possible, strict control of the patients over time is essential.

Mycoplasma hominis Induces Mediastinitis after a Tonsillar Abscess.

Mycoplasma hominis is commonly involved in genitourinary tract infections. We report a 59-year-old man who developed a M. hominis-associated mediastinitis following acute tonsillar infection.

Diagnóstico diferencial: perda auditiva ou transtorno do espectro do autismo / Differential diagnosis: hearing loss or autism spectrum disorder / Diagnóstico diferencial: pérdida auditiva o transtorno del espectro autista

Introdução: a perda auditiva (PA) caracteriza-se por uma alteração no sistema auditivo, com diminuição da audição e o Transtorno do Espectro do Autismo (TEA) é definido como uma alteração de desenvolvimento e do comportamento. Muitos sintomas da PA e do TEA se sobrepõem, requerendo um diagnóstico diferencial. Objetivo: determinar as características do atendimento em um Serviço Ambulatorial de Saúde Auditiva (SASA) para diagnóstico diferencial de deficiência auditiva em crianças de zero a 12 anos de idade, com suspeita ou confirmação de TEA. Metodologia: pesquisa quantitativa documental transversal em banco de dados com 94 registros de crianças de zero a 12 anos, com suspeita ou confirmação de TEA. A análise estatística foi descritiva com teste de comparação entre duas proporções (α < 5%). Resultados: dos 94 registros, 36 tinham a confirmação de TEA e 58, a suspeita deste. Houve prevalência do sexo masculino e da faixa etária de três a quatro anos. Observou-se forte tendência de crianças com TEA suspeito apresentarem audição dentro dos padrões da normalidade, enquanto que as com TEA confirmado tiveram forte tendência para ocorrência de PA condutiva. Na avaliação eletrofisiológica foram observadas alterações não compatíveis com PA coclear em alguns casos de TEA confirmado, sendo que nos atrasos de linguagem associados a outras alterações na função comunicativa houve forte tendência para alterações no PEATE não compatíveis com PA coclear. Conclusões: deve-se ter atenção, durante os atendimentos audiológicos infantis, para os resultados da avaliação eletrofisiológica, que associada à história clínica pode despertar a suspeita de TEA.

Introduction: Hearing loss (HL) is characterized by a change in the auditory system, with decreased hearing ability, while the Autism Spectrum Disorder (ASD) is defined as a developmental and behavioral change. However, there are many symptoms of HL and ASD that overlap, requiring a differential diagnosis to be performed by a multidisciplinary team. Objective: To characterize the process of differential diagnosis between HL and ASD and its association in children from zero to twelve years of age, at a Hearing Health Outpatient Clinic (Serviço Ambulatorial de Saúde Auditiva - SASA). Method: This is a cross-sectional and qualitative document-based study in a database of 94 records of children attended by the clinic from 2012 to 2017, with at least one diagnostic hypothesis of ASD. The statistical analysis was descriptive with a comparison test between the two population proportions with a 5% significance level. Results: Of the 94 suspected cases of ASD, 36 were confirmed. There was a prevalence of males and the age group of three to four years at the time of the suspicion or confirmed diagnosis of ASD. Most of the children presented borderline hearing loss within the normal limits, and normal results in the Brainstem Auditory Evoked Potential (BAEP) responses. Although there was a prevalence of language delays in the language assessment, when this was associated with other communicative changes (symbolic function, communicative intention and/or echolalia) there was an increase in the changes in the BAEP. Conclusions: Multidisciplinary care is important for the differential diagnosis of HL, ASD, or the association between them, in order to ensure the most adequate intervention for each case.

Introducción: la perdida de audición (PA) se caracteriza por un cambio en el sistema auditivo, con disminución de la audición, y el transtorno del espectro autista (TEA) se define como un cambio en el desarrollo y el comportamento. Muchos sintomas de PA y TEA se superponen, lo que requiere que un equipo multidisciplinario haga un diagnóstico diferencial. Objetivo: caracterizar el proceso de diagnóstico diferencial entre BP, ASD y su asociación en niños de cero a doce años en un Servicio de Salud Auditiva Ambulatoria (SASA). Metodología: investigación documental cuantitativa transversal em una base de datos con 94 registros de niños de 0-12 años tratados de 2012 a 2017, con al menos una hipótesis diagnóstica de TEA. El análisis estadístico fue una prueba descriptiva y comparativa entre dos proporciones a un nível de significación del 5%. Resultados: entre los 94 casos sospechos de TEA, 36 tuvieron confirmación. Hubo una prevalencia de varones y el grupo de edad de tres a cuatro años en el momento de la sospecha o confirmación de TEA. La mayoría de los niños tienen umbrales auditivos normales y resultados normales en los potenciales evocados auditivos del tronco encefálico (BAEP). En la evaluación del lenguaje, hubo una prevalencia de retraso del lenguaje, pero cuando se asoció con otras alteraciones comunicativas (función simbólica, intención comunicativa y / o ecolalia), hubo un aumento em las alteraciones BAEP. Conclusiones: la atención multidisciplinaria es relevante para el diagnóstico diferencial de PA, TEA o su asociación, con el objetivo de la interación más adecuada para cada caso.

Rett syndrome: clinical and epidemiological aspects in a Brazilian institution.

Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend--learning, hand use and speech--leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 24 patients (72.7%): 17 (70.8%) had classical RS; 5 (20.8%), atypical RS and 2 (8.4%), potential RS. In 9 girls clinical data and/or laboratory studies excluded diagnosis of RS. Among the atypical RS patients, 4 were form fruste and one, congenital form. Among the girls with other encephalopathies, cerebral malformation was the most frequent finding.

[Central nervous system involvement by histoplasmosis as the unique manifestation of this disease in immunocompetent patients: presentation of two cases]. / Histoplasmose do sistema nervoso central como única manifestação da doença em pacientes imunocompetentes: apresentação de dois casos.

We present two patients with central nervous system involvement as the unique clinical manifestation of histoplasmosis. A clinical review confirmed the infrequency of this form of the disease, overall in childhood, being one of these cases the youngest in Brazilian reports. Comments about the diversity of clinical presentation and main differential diagnosis are presented. We analyze the serologic and cerebrospinal fluid results and, finally, discuss the drugs and duration of treatment.

Rett syndrome: clinical and epidemiological aspects in a Brazilian institution

Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend - learning, hand use and speech - leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 24 patients (72.7 percent): 17 (70.8 percent) had classical RS; 5 (20.8 percent), atypical RS and 2 (8.4 percent), potential RS. In 9 girls clinical data and/or laboratory studies excluded diagnosis of RS. Among the atypical RS patients, 4 were form fruste and one, congenital form. Among the girls with other encephalopathies, cerebral malformation was the most frequent finding

Histoplasmose do sistema nervoso central como única manifestaçäo da doença em pacientes imunocompetentes: apresentaçäo de dois casos / Central nervous system involvement by histoplasmosis as the unique manifestation of this disease in immunocompetent patients: presentation of two cases

Apresentamos dois casos de histoplasmose em que o acometimento do sistema nervoso central foi a única manifestaçäo clínica da doença. Revisäo da literatura permitiu confirmar a raridade dessa forma de patologia, em particular em crianças, sendo o segundo caso aqui apresentado o de mais baixa idade na literatura nacional. Säo feitos comentários sobre a variedade das apresentaçöes clínicas e os principais diagnósticos diferenciais da doença. Säo discutidos os resultados laboratoriais, tanto em relaçäo às alteraçöes liquóricas quanto aos resultados sorológicos. Finalmente, é analisada a terapêutica dessa forma de infecçäo fúngica tanto em relaçäo aos medicamentos utilizáveis quanto à duraçäo prolongada aconselhável para o tratamento específico