RESUMO
BACKGROUND: Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2 gene. Mandibulofacial dysostoses are characterised by the core triad malar hypoplasia, maxillary hypoplasia and dysplastic ears, all derived by the impaired development of the first and second branchial arches. Differential diagnosis is often challenging. The early genetic diagnosis is extremely useful, not only for the correct management of cranial malformations, but also for the early diagnosis and treatment of the comorbidities associated to the disease, which greatly benefit from early treatment.
Assuntos
Região Branquial , Disostose Mandibulofacial , Humanos , Disostose Mandibulofacial/genética , Diagnóstico Diferencial , Zigoma , Fatores de Alongamento de Peptídeos , Ribonucleoproteína Nuclear Pequena U5RESUMO
Blow-out fractures usually involve the orbit in the floor or in the medial wall. Anyway, if the roof of the orbit is thin and direct compressive or buckling forces impact the orbit the fracture can involve the upper roof. We describe the case of a blow-out fracture of the orbital roof with enophtalmus and cerebrospinal fluid leak from lacero-contusive subciliar wound
Assuntos
Órbita/lesões , Fraturas Orbitárias/cirurgia , Fratura da Base do Crânio/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Órbita/cirurgiaRESUMO
The triorganotin compound trimethyltin (TMT) is a highly toxic molecule which has a great impact on human health. The aim of this study was to investigate the specific alteration of dopamine receptors and transporters in the hippocampus of TMT-treated rats. The TMT-treated group showed impaired spatial reference memory in a Morris water maze task compared to the control group, whereas memory consolidation tested 24 hours after the last training session was preserved. In the open field, TMT-treated rats showed a decrease in time spent in rearing episodes reflecting a lower interest to explore a novel environment. In the hippocampal area of the TMT-treated group, we observed a reduction in neuronal viability accompanied by a significant decrease in the expression of the dopamine receptors (D1 and D2), and dopamine transporters (DAT, VMAT1 and VMAT2). A less pronounced reduction was observed for D3 and D5 while D4 did not change. These data were confirmed by RT-PCR analysis. The present study on TMT-induced neurodegeneration highlights the link between hippocampal asset of dopamine receptors and transporters and the impaired performance of rats in a spatial reference memory task.