RESUMO
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.
Assuntos
Humanos , Masculino , Pré-Escolar , Transtorno Autístico/genética , Cromossomos Humanos Par 12/genética , Transtornos Cromossômicos/patologia , Doenças Raras/genética , Transtorno do Espectro Autista/genética , Anormalidades Múltiplas , Aberrações Cromossômicas , Deleção CromossômicaRESUMO
Malaria, a disease which was under control in the beginning of Juscelino Kubitschek government, became the most important endemic disease in 1958, when Brazil made a commitment with the World Health Organization to convert its control programs into eradication programs. For this purpose a Malaria Control and Eradication Group was set up under the leadership of the malaria specialist Mário Pinotti. Malaria would become an important bargaining chip in the context of the development policies of Kubitschek. This article focuses on path of the Malaria Control and Eradication Working Group in Brazil, in its varying relationships with the arguments and guidelines established at international level.
A malária, doença que estava controlada no início do governo de Juscelino Kubitschek, torna-se a mais importante endemia em 1958, quando o Brasil assumiu o compromisso com a Organização Mundial da Saúde de converter seus programas de controle em programas de erradicação. Para isso foi instalado um Grupo de Controle e Erradicação da Malária sob a direção do malariologista Mário Pinotti. A malária seria uma importante moeda de negociação no contexto da política de desenvolvimento de Kubitschek. Este artigo tem como foco a trajetória do Grupo de Trabalho de Controle e Erradicação da Malária no Brasil, em suas diferentes relações com as discussões e normativas travadas e estabelecidas em âmbito internacional.
Assuntos
Humanos , Feminino , Idoso , Neoplasias da Mama/diagnóstico , Diferenciação Celular , Transtornos Cromossômicos/diagnóstico , Fatores de Transcrição Forkhead/genética , Deleção de Genes , Miócitos de Músculo Liso/patologia , Neoplasias de Tecido Muscular/diagnóstico , Biomarcadores Tumorais/genética , Biópsia , Neoplasias da Mama/química , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Deleção Cromossômica , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , /genética , Predisposição Genética para Doença , Hibridização in Situ Fluorescente , Miócitos de Músculo Liso/química , Neoplasias de Tecido Muscular/química , Neoplasias de Tecido Muscular/genética , Neoplasias de Tecido Muscular/patologia , Neoplasias de Tecido Muscular/cirurgia , Fenótipo , Valor Preditivo dos Testes , Biomarcadores Tumorais/análise , Ultrassonografia MamáriaRESUMO
To evaluate the etiology, clinical presentations, investigations and surgical management of patients presenting with atypical genitalia in Pediatric surgery department. Disorders of Sexual development are one of the most complex congenital disorders encountered by the treating physicians. In recent years, the diagnostic ability and surgical techniques of gender reconstructions have improved remarkably. The spectrum includes chromosomal, genotype and phenotype abnormalities. The birth of a baby with atypical genitalia poses diagnostic and treatment challenges. This article focuses on etiology, clinical presentations, investigations and surgical management of patients presenting with ambiguous genitalia. A descriptive, prospective case series. Department of Pediatric Surgery, Military Hospital, Rawalpindi, Pakistan. October 2010 to June 2014. All patients with atypical genitalia, who underwent any kind of genital reconstruction surgery were included in the study. A total of 28 patients were operated upon during the study period. Age ranged from 11months to 12 years. Patients were divided into two groups on the basis of their karyotyping. Seventeen patients had 46 XY and 11 had 46 XX. No mosaic pattern was seen. Male genital reconstructive surgery was done in 16 patients while 12 underwent female genital reconstructive surgery. Disorders of sexual development present as a complex spectrum of psychosocial, sexual, endocrine and surgical implications, thus management demands a multidisciplinary team approach. Appropriately timed surgical intervention after thorough work up and detailed counseling, produce excellent cosmetic and functional results
Assuntos
Humanos , Feminino , Masculino , Lactente , Pré-Escolar , Criança , Genitália/patologia , Genitália/cirurgia , Transtornos Cromossômicos/patologia , Genótipo , Fenótipo , Cariótipo , Estudos ProspectivosRESUMO
A testicu1ar biopsy from an infertile man carrying a heterozygous chromosome translocation t(ll; 14) was studied with synaptonemal complex analysis and immunolocalization of the protein MLH 1 for crossover detection. A full blockage of spermatogenesis at the spermatocyte stage was related to the presence of the translocation quadrivalents at pachytene. Only 2% of the quadrivalents showed full synapsis. Most of the spermatocytes showed asynaptic free ends that frequently mingled with the XY pair. The average number of crossovers per cell was diminished from a mean of 52.7 in controls to a mean of 48 in the patient. The difference between the number of crossovers in the quadrivalent and the normal bivalents was highly significant. The distribution of crossovers over the segment of the quadrivalent corresponding to bivalent #14 was also very different from that ofthe control. It is concluded that in this translocation, the pattern of crossovers is changed, mainly due to a synaptic hindrance in the quadrivalent, and that the spermatogenesis arrest is mainly due to the quadrivalents that interact with the XY pair