RESUMO
Description A 15-year-old female presented to the emergency department with swelling and pain in her left labial region as well as urinary retention after intercourse. This was the patient's first time having sexual intercourse and the patient stated that her boyfriend "kneed" her in the labia. A CT scan of the pelvis revealed a large vulvar/external hematoma measuring 6 × 10 × 7 cm which extended into the vaginal vault. This case is the first of a vulvar hematoma reported in a pediatric patient with scleroderma. This case was complicated by the fact that our patient claimed her boyfriend intentionally "kneed" her in the labia, thereby calling sexual abuse into question. Discerning between childhood connective tissue disorders and abuse injuries can be difficult, especially in genital trauma. The treatment team suspected early on that this was a case of intimate partner assault based on the severity of the injury alone and continued when she presented again to the emergency department with concerns for abuse. Sexual violence should be high on the differential in children with connective tissue disorders who present with vulvar or paravaginal hematomas. In our opinion, these injuries warrant a thorough investigation by a child abuse specialist, child protective services and law enforcement.
RESUMO
The mammalian CECR2 protein contains a highly conserved bromodomain and forms a chromatin-remodelling complex with the ISWI homologue SNF2L. Mutation of the mouse CECR2 homologue results in a neural tube defect. Here we describe the characterization of the Drosophila melanogaster homologue of CECR2. Originally annotated as 2 genes, dikar and CG32394 now appear to encode both a long dikar/CG32394 transcript homologous to CECR2 and a truncated transcript missing the bromodomain. This truncated transcript may be specific to Diptera, as it is predicted from the genomic sequences of several other dipteran species but it is not predicted in the honey bee, Apis mellifera, and it is not found in mammals. Five different P element-mediated 5' deletions of the Drosophila dikar gene were generated. All mutants were homozygous-viable and the 3 mutants examined further displayed continued, albeit aberrant, transcription of dikar/CG32394. In a previous study, a dikar insertion mutation was associated with long-term memory deficits. However, the 2 deletion mutants tested here showed normal long-term memory, suggesting that the memory deficit associated with the dikar P element insertion is not due to disruption of dikar. No genetic interaction was seen between Iswi and dikar mutations. This study therefore suggests that the lack of a visible phenotype in dikar mutants is due to compensation by a second gene, possibly acf1.
Assuntos
Montagem e Desmontagem da Cromatina/genética , Cromatina/genética , Proteínas de Drosophila/genética , Drosophila melanogaster/genética , Deleção de Genes , Peptídeos e Proteínas de Sinalização Intercelular/genética , Animais , Cromatina/metabolismo , Cruzamentos Genéticos , DNA/genética , DNA/isolamento & purificação , DNA Complementar , Proteínas de Drosophila/metabolismo , Homozigoto , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Filogenia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de Sequência de DNA , Transcrição GênicaRESUMO
Chromatin remodeling complexes play critical roles in development. Here we describe a transcription factor, CECR2, which is involved in neurulation and chromatin remodeling. CECR2 shows complex alternative splicing, but all variants contain DDT and bromodomain motifs. A mutant mouse line was generated from an embryonic stem cell line containing a genetrap within Cecr2. Reporter gene expression demonstrated Cecr2 expression to be predominantly neural in the embryo. Mice homozygous for the Cecr2 genetrap-induced mutation show a high penetrance of the neural tube defect exencephaly, the human equivalent of anencephaly, in a strain-dependent fashion. Biochemical isolation of CECR2 revealed the presence of this protein as a component of a novel heterodimeric complex termed CECR2-containing remodeling factor (CERF). CERF comprises CECR2 and the ATP-dependent chromatin remodeler SNF2L, a mammalian ISWI ortholog expressed predominantly in the central nervous system. CERF is capable of remodeling chromatin in vitro and displays an ATP hydrolyzing activity that is stimulated by nucleosomes. Together, these data identify a novel chromatin remodeling complex with a critical role in neurulation.
