Ruptured ovarian cystic teratoma in pregnancy with diffuse peritoneal reaction mimicking advanced ovarian malignancy: a case report

<p>Abstract</p> <p>Introduction</p> <p>This case illustrates the unusual complication of granulomatous peritonitis following rupture of a dermoid cyst in pregnancy resembling disseminated ovarian carcinoma. To the best of the authors' knowledge, this is the first report of this complication during advanced pregnancy in the literature.</p> <p>Case presentation</p> <p>A dermoid cyst ruptured during surgical removal in the second trimester of pregnancy in a 27-year-old primigravida. Postoperatively the patient suffered pulmonary embolism and leakage of sebaceous material through the abdominal wound. She gradually developed significant abdominal distension, gastrointestinal symptoms and lost more than 8 kg of weight in the 12 weeks postoperatively. The baby was delivered at 31 weeks by a technically challenging caesarean section owing to severe dense adhesions obscuring the uterus. Bowel resection was performed for suspected malignant infiltration and adhesion causing obstruction. She had a protracted convalescence with an ileostomy and mucus fistula. Histology confirmed granulation without malignancy. One year following the surgical treatment, she had recovered well and was planning her next pregnancy.</p> <p>Conclusion</p> <p>Although granulomatous peritonitis following rupture of a dermoid cyst is very rare, awareness is the key to diagnosis and appropriate management. Per-operative frozen section may be helpful.</p

A Drosophila Model of Intellectual Disability Caused by Mutations in the Histone Demethylase KDM5

Summary: Mutations in KDM5 family histone demethylases cause intellectual disability in humans. However, the molecular mechanisms linking KDM5-regulated transcription and cognition remain unknown. Here, we establish Drosophila as a model to understand this connection by generating a fly strain harboring an allele analogous to a disease-causing missense mutation in human KDM5C (kdm5A512P). Transcriptome analysis of kdm5A512P flies revealed a striking downregulation of genes required for ribosomal assembly and function and a concomitant reduction in translation. kdm5A512P flies also showed impaired learning and/or memory. Significantly, the behavioral and transcriptional changes in kdm5A512P flies were similar to those specifically lacking demethylase activity. These data suggest that the primary defect of the KDM5A512P mutation is a loss of histone demethylase activity and reveal an unexpected role for this enzymatic function in gene activation. Because translation is critical for neuronal function, we propose that this defect contributes to the cognitive defects of kdm5A512P flies. : In humans, mutations in the transcriptional regulator KDM5 result in intellectual disability (ID). Here, Zamurrad et al. generate a Drosophila strain harboring a KDM5 mutation equivalent to an ID-associated allele to reveal a conserved role for KDM5 in cognition and an unexpected role for KDM5’s enzymatic activity in gene activation. Keywords: KDM5, Lid, H3K4me3, transcription, intellectual disability, cognition, chromatin, ribosom