Exposure to leucine alters glutamate levels and leads to memory and social impairment in zebrafish.

Maple Syrup Urine Disease (MSUD) is a metabolic disorder characterized by high levels in blood and urine of branched-chain amino acids leucine, isoleucine, and valine and their alpha-ketoacids, by a partial or total blockade in the activity of branched-chain complex alpha-keto acids dehydrogenase. The main symptoms in MSUD occur in the central nervous system, including cognitive deficits, locomotor, poor feeding, seizures, psychomotor delay, and mental retardation, but the mechanisms of neurotoxicity and behavior alteration due to this disease are poorly understood, thus this study aimed at showing the effects of leucine exposure on glutamate levels and behavior in zebrafish. For this, we analyzed the behavior using the social preference test and novel object recognition test, moreover, we analyse the glutamate levels and uptake using scintillation and high-performance liquid chromatography methods. Our results demonstrated a decrease in glutamate levels and uptake, accompanied by memory and social impairment. In conclusion, these results suggest that alterations in glutamate levels can be associated with behavior impairment, however, more studies are necessary to understand the mechanisms for brain damage in MSUD.

Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder.

Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.

Autism associated with 12q (12q24. 31-q24. 33) deletion: further report of an exceedingly rare disorder / Autismo associado à síndrome de deleção do cromossomo 12q24. 31-q24. 33: relato adicional de um distúrbio extremamente raro

ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.

RESUMO Anomalias cromossômicas são responsáveis por inúmeras malformações congênitas no mundo, algumas delas associadas a deleções teloméricas/subteloméricas. As anomalias que envolvem o telômero do cromossomo 12 são raras, com poucos relatos na literatura sobre deleções relacionados à região 12q24.31 e, até onde sabemos, apenas quatro deles na região 12q24.31-q24.33. Relatamos um outro caso de deleção intersticial das bandas 12q24.31-q24.33 associada ao transtorno do espectro do autismo. Trata-se de um menino de 2 anos de idade com atraso global no desenvolvimento associado a múltiplas anomalias congênitas. A utilização do Human Genome CGH Microarray 60K confirmou o diagnóstico da síndrome de deleção 12q. Este estudo fez uma revisão da literatura atual, comparando nosso paciente com casos previamente relatados. Estas análises detalhadas contribuem para o desenvolvimento de correlações genótipo/fenótipo para deleções 12q, que ajudam aos melhores diagnóstico e prognóstico desta deleção.

Male infertility profile in an assisted human reproduction clinic from the south of Santa Catarina, Brazil, from 2012 to 2014 / Perfil da infertilidade masculina em uma clínica de reprodução humana assistida do extremo sul catarinense no período de 2012 a 2014

Introduction: Male infertility is characterized by the inability to produce sperm with normal concentration, motility and/or morphology, featuring an abnormal spermatogenesis. The diagnosis of male infertility is accomplished through spermogram. Objectives: The present study aimed to verify the profile of male infertility of patients attended in an assisted human reproduction clinic. Methods: We assessed the spermogram report of 196 patients who underwent semen analysis in a private clinic of assisted human reproduction, located in the south of the state of Santa Catarina (Brazil), from 2012 to 2014. Results: 32.7% of patients presented normal semen analysis, while 67.3% had some alteration in the report. Among the altered semen, the following diagnoses were found: teratozoospermia (44.7%), oligoasthenoteratozoospermia (20.5%), oligoteratozoospermia (15.9%), azoospermia (7.6%), asthenoteratozoospermia (6.8%), oligozoospermia (2.3%) and asthenozoospermia (2.3%). It was also showed that the sperm volume was modified with advancing age, showing a significant decrease in individuals over 40 years old. Conclusions: our data revealed teratozoospermia as the most frequent sperm alteration found. Moreover, patients aged greater than or equal to 40 years old presented reduced sperm volume, although the patients' age did not show correlation with the final diagnosis of the sperm analysis.(AU)

Introdução: A infertilidade masculina é definida pela incapacidade de formar espermatozoides com concentração, morfologia ou motilidade normal, caracterizando uma espermatogênese anormal. O diagnóstico de infertilidade masculina pode ser realizado por meio do espemograma. Objetivos: O presente estudo buscou verificar o perfil da infertilidade masculina em uma clínica de reprodução humana assistida. Métodos: Foram avaliados os laudos de 196 pacientes submetidos ao espermograma em uma clínica particular de reprodução humana assistida, localizada no extremo sul catarinense, no período de 2012 a 2014. Resultados: 32,7% dos pacientes apresentaram resultados dentro da normalidade, enquanto que 67,3% apresentaram algum tipo de alteração no espermograma. Entre os exames alterados, os seguintes diagnósticos foram encontrados: teratozoospermia (44,7%), oligoastenoteratozoospermia (20,5%), oligoteratozoospermia (15,9%), azoospermia (7,6%), astenoteratozoospermia (6,8%), oligozoospermia (2,3%) e astenozoospermia (2,3%). Além disso, foi demonstrado que o volume espermático é alterado com a idade, sendo observada uma redução significativa em indivíduos com mais de 40 anos. Conclusões: nossos resultados revelaram a teratozoospermia como a alteração seminal mais frequente na população estudada. Além disso, pacientes com idade maior ou igual a 40 anos apresentaram o volume espermático reduzido, embora a idade dos pacientes não se correlacione com o diagnostico final do espermograma.(AU)