RESUMO
Visuomotor impairments characterize numerous neurological disorders and neurogenetic syndromes, such as autism spectrum disorder (ASD) and Dravet, Fragile X, Prader-Willi, Turner, and Williams syndromes. Despite recent advances in systems neuroscience, the biological basis underlying visuomotor functional impairments associated with these clinical conditions is poorly understood. In this study, we used neuroimaging connectomic approaches to map the visuomotor integration (VMI) system in the human brain and investigated the topology approximation of the VMI network to the Allen Human Brain Atlas, a whole-brain transcriptome-wide atlas of cortical genetic expression. We found the genetic expression of four genes-TBR1, SCN1A, MAGEL2, and CACNB4-to be prominently associated with visuomotor integrators in the human cortex. TBR1 gene transcripts, an ASD gene whose expression is related to neural development of the cortex and the hippocampus, showed a central spatial allocation within the VMI system. Our findings delineate gene expression traits underlying the VMI system in the human cortex, where specific genes, such as TBR1, are likely to play a central role in its neuronal organization, as well as on specific phenotypes of neurogenetic syndromes.
Assuntos
Canais de Cálcio/genética , Córtex Motor/fisiopatologia , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Transtornos do Neurodesenvolvimento/patologia , Proteínas/genética , Proteínas com Domínio T/genética , Córtex Visual/fisiopatologia , Adulto , Idoso , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/patologia , Mapeamento Encefálico , Estudos de Coortes , Epilepsias Mioclônicas/genética , Epilepsias Mioclônicas/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos do Neurodesenvolvimento/genética , Síndrome de Prader-Willi/genética , Síndrome de Prader-Willi/patologia , Desempenho Psicomotor , Percepção VisualRESUMO
Abdominal wall hernias are a common abdominal pathology with higher prevalence in our population. It is usually asymptomatic but complications such as strangulation, incarceration or bowel obstruction need early detection and emergency surgery. The purpose of this article is to describe the infrequent type of hernia, illustrate the imaging findings and review the differential diagnosis. A 76-year-old woman was admitted in the emergency room with abdominal pain, vomits and diarrhoea. At her admission, a colonoscopy was attempted to perform but it was not possible to go beyond the stenosis. A barium enema and a multi-detector computed tomography (MDCT) were performed revealing a large mass in the left ischiorectal fossa, containing herniated loops of sigmoid colon adjacent to rectum. Abdominal wall hernias occur at areas of congenital or acquired weakness in the abdominal wall and are considered external hernias. MDCT is essential to identify wall hernias, make an accurate diagnosis and help for its clinical assessment. Knowing the radiological features of various types of abdominal hernias on MDCT and barium-enhanced radiographs allows confident diagnosis of these pathologies.