Alterations in the MicroRNA of the Blood of Autism Spectrum Disorder Patients: Effects on Epigenetic Regulation and Potential Biomarkers.

Aims: Autism spectrum disorder (ASD) refers to a group of heterogeneous brain-based neurodevelopmental disorders with different levels of symptom severity. Given the challenges, the clinical diagnosis of ASD is based on information gained from interviews with patients' parents. The heterogeneous pathogenesis of this disorder appears to be driven by genetic and environmental interactions, which also plays a vital role in predisposing individuals to ASD with different commitment levels. In recent years, it has been proposed that epigenetic modifications directly contribute to the pathogenesis of several neurodevelopmental disorders, such as ASD. The microRNAs (miRNAs) comprises a species of short noncoding RNA that regulate gene expression post-transcriptionally and have an essential functional role in the brain, particularly in neuronal plasticity and neuronal development, and could be involved in ASD pathophysiology. The aim of this study is to evaluate the expression of blood miRNA in correlation with clinical findings in patients with ASD, and to find possible biomarkers for the disorder. Results: From a total of 26 miRNA studied, seven were significantly altered in ASD patients, when compared to the control group: miR34c-5p, miR92a-2-5p, miR-145-5p and miR199a-5p were up-regulated and miR27a-3p, miR19-b-1-5p and miR193a-5p were down-regulated in ASD patients. Discussion: The main targets of these miRNAs are involved in immunological developmental, immune response and protein synthesis at transcriptional and translational levels. The up-regulation of both miR-199a-5p and miR92a-2a and down-regulation of miR-193a and miR-27a was observed in AD patients, and may in turn affect the SIRT1, HDAC2, and PI3K/Akt-TSC:mTOR signaling pathways. Furthermore, MeCP2 is a target of miR-199a-5p, and is involved in Rett Syndrome (RTT), which possibly explains the autistic phenotype in male patients with this syndrome.

Treatment of refractory neonatal seizures with topiramate.

OBJECTIVE: The objective of this study is to describe the usefulness of topiramate in refractory neonatal seizures. RESULTS: We reported the clinical off-label use of topiramate in three cases of refractory neonatal seizures of unclear origin with no response to conventional antiepileptic drugs. In all cases, the seizures were completely controlled with adding topiramate. All patients became seizure free during hospitalization and were followed by approximately 1 year after hospital discharge, with monotherapy with topiramate. COMMENTS: The clinical off-label use of topiramate in neonatal seizures is still incipient. When searching publications in this matter, only one report was identified. Because of its efficacy for both seizures and neuroprotection, topiramate could be a useful choice in refractory neonatal seizures.

Neurotoxocaríase infantil com acometimento cerebral, cerebelar, e periférico simultâneo: relato de caso e revisão da literatura / Pediatric neurotoxocariasis with concomitant cerebral, cerebellar, and peripheral nervous system involvement: case report and review of the literature

OBJETIVO: Alertar a comunidade pediátrica às consequências neurológicas da toxocaríase e descrever o primeiro caso pediátrico de neurotoxocaríase com acometimento simultâneo do cérebro, cerebelo e sistema nervoso periférico. DESCRIÇÃO: Relatamos um caso de neurotoxocaríase em criança do sexo masculino, 5 anos de idade, previamente hígido, com sintomas incomuns e acometimento multifocal dos sistemas nervosos central e periférico. Discutimos o diagnóstico diferencial e fazemos uma breve revisão da literatura. Desde o início da década de 1950, menos de 50 casos de neurotoxocaríase foram descritos, a maioria em adultos. COMENTÁRIOS: A toxocaríase é uma das helmintíases mais comuns em humanos. A neurotoxocaríase, porém, é uma patologia rara, especialmente na população pediátrica. Embora a toxocaríase costume seguir um curso autolimitado, sem envolvimento do sistema nervoso central, as manifestações neurológicas podem ser devastadoras quando ocorrem. A neurotoxocaríase deve fazer parte do diagnóstico diferencial de pacientes pediátricos com sintomas neurológicos atípicos e eosinofilia no líquor. Se diagnosticada e tratada precocemente, é possível evitar as sequelas neurológicas a longo prazo.

OBJECTIVES: To alert pediatricians to the neurologic consequences of toxocariasis and to describe the first pediatric case of neurotoxocariasis with concomitant cerebral, cerebellar and peripheral nervous system involvement. DESCRIPTIONS: We report a case of neurotoxocariasis in a previously healthy 5-year-old boy with unusual symptoms and multi-site involvement of both the central and peripheral nervous system. Differential diagnoses are discussed and the relevant literature is reviewed. Since the early 1950s, fewer than fifty cases have been described, mostly in adult patients. COMMENTS: Although human toxocariasis is one of the most common zoonotic helminth infections, neurotoxocariasis is a rare condition, especially in pediatric patients. Although toxocariasis usually presents as a self-limiting disease with no central nervous system involvement, when it does occur, it can be devastating. Neurotoxocariasis should be added to the differential diagnosis of pediatric patients with unusual neurologic symptoms accompanied by high levels of eosinophils in the cerebrospinal fluid. Early diagnosis and treatment can prevent long-term neurologic sequelae.

Pediatric neurotoxocariasis with concomitant cerebral, cerebellar, and peripheral nervous system involvement: case report and review of the literature.

OBJECTIVE: To alert pediatricians to the neurologic consequences of toxocariasis and to describe the first pediatric case of neurotoxocariasis with concomitant cerebral, cerebellar and peripheral nervous system involvement. DESCRIPTION: We report a case of neurotoxocariasis in a previously healthy 5-year-old boy with unusual symptoms and multi-site involvement of both the central and peripheral nervous system. Differential diagnoses are discussed and the relevant literature is reviewed. Since the early 1950s, fewer than fifty cases have been described, mostly in adult patients. COMMENTS: Although human toxocariasis is one of the most common zoonotic helminth infections, neurotoxocariasis is a rare condition, especially in pediatric patients. Although toxocariasis usually presents as a self-limiting disease with no central nervous system involvement, when it does occur, it can be devastating. Neurotoxocariasis should be added to the differential diagnosis of pediatric patients with unusual neurologic symptoms accompanied by high levels of eosinophils in the cerebrospinal fluid. Early diagnosis and treatment can prevent long-term neurologic sequelae.

Teratoma imaturo de ovário na gestação: relato de caso e revisão da literatura / Immature ovarian teratoma in pregnancy: case report and literature review

O teratoma imaturo de ovário é uma neoplasia maligna derivada de células embrionárias de diferenciação somática. Sua incidência é baixa, e rara em gestantes. Costuma se manifestar em pacientes jovens, sendo, frequentemente, assintomáticos. Relata-se aqui o caso de uma paciente de 21 anos que veio à consulta apresentando ecografia obstétrica de 25 semanas, com presença de massa anexial à esquerda. Uma nova ecografia, realizada dois dias após a primeira avaliação, revelou massa de aspecto heterogêneo, sólido-cístico, septada, com 9,4cm em seu maior diâmetro. Havia presença de líquido livre na cavidade abdominal, ocupada por formações teciduais de distribuição ampla. Duas semanas após a primeira consulta, foi submetida à laparotomia exploradora com salpingo-ooforectomia unilateral e ressecção de implantes peritoneais, obtendo citorredução ótima. O laudo histopatológico revelou teratoma imaturo de ovário grau III, com líquido de ascite negativo para células malignas. Realizados 3 ciclos de quimioterapia adjuvante, segundo protocolo BEP (bleomicina, etoposide e cisplatina), os dois primeiros com a gestação em curso. Com 36 semanas de gestação, iniciou-se a indução de trabalho de parto, com boa evolução. O recém-nascido apresentou um índice de Apgar de 8/8, sem sinais de danos secundários à quimioterapia. No momento, a paciente encontra-se assintomática e livre de doença no décimo quarto mês pós-operatório. Acredita-se que esse trabalho possa acrescentar ao conhecimento atual da doença, visto a raridade do caso e a escassa quantidade de literatura disponível.

T- and B-cell ontogeny: an alternative teaching method: T- and B-cell ontogeny game.

BACKGROUND AND PURPOSES: The game proposed herein stimulates logical thinking and the memorization of complex subject matters in the biomedical field, especially in excessively theoretical disciplines. METHODS: The game consists of an illustrated board with numbered squares, pawns, dice, and a sheet containing questions about the topic. It is played by groups of 6 students and 1 previously trained monitor. The numbered squares correspond to questions about the topic. The player who gets to the last square first wins the game. The validity of the game was tested by means of a questionnaire that was answered by students before and after the game, with a later comparison of the students' grades. RESULTS: The overall results were positive, and test grades significantly increased after the game. CONCLUSIONS: The game enhances learning of difficult topics and fosters the relationship between students, monitors, and professor, thus facilitating the clarification of points that arose during the study.

Pelagra / Pellagra

A pelagra (deficiência de vitamina B6) acomete pacientes cronicamente desnutridos emerece destaque por seu envolvimento multissistêmico. É relatado o caso de um paciente de48 anos, sexo masculino, com história de alcoolismo crônico, diarréia, insônia, irritabilidade ediminuição da memória. Ao exame físico, apresentava lesões eritematodescamativas,edemaciadas, simétricas no dorso de ambos os pés e região anterior e posterior das pernas,poupando a área da bermuda e as tiras dos chinelos. Após 20 dias de reposição de niacina ecomplexo B, apresentou melhora significativa das lesões de pele, sem melhora dos sintomasdigestivos e neurológicos. Os aspectos da patogênese, fisiopatologia, diagnóstico diferencial etratamento da pelagra são discutidos. O diagnóstico de pelagra deve ser lembrado em pacientescom lesões de pele e fatores de risco para desnutrição, como pacientes alcoolistas e doentescrônicos.

Pellagra (vitamin B6 deficiency) is seen in chronically malnourished patients and deservesattention because of its multisystemic involvement. We report a case of a 48-year-old malepatient with chronic alcohol abuse, diarrhea, insomnia, irritability and memory impairment. Onphysical examination, there were symmetrical, erythematous, desquamative and edematouslesions on the dorsum of both feet and anterior and posterior aspects of the legs, sparing thearea covered by the shorts and slippers straps. After 20 days of niacin and B complexreplacement, there was marked improvement in skin lesions, but the digestive and neurologicalsymptoms did not improve. Aspects concerning pathogenesis, pathophysiology, differentialdiagnosis and treatment of pellagra are discussed. Diagnosis of pellagra should be consideredin patients with skin lesions and risk factors for malnourishment, such as alcoholic andchronically ill patients.