Peritoneal inclusion cysts (PICs) are reactive, fluid-filled lesions of the peritoneal lining, usually affecting women of reproductive age and with previous abdominal surgeries. Paraovarian cysts, ...hydrosalpinx, and low-grade cystic mesothelioma are usually considered in the differential diagnosis of PICs. In this case report, we present an 18-year-old female with a known case of bladder exstrophy and chronic urinary incontinence and a previous history of surgical bladder repair. She presented to the emergency department (ED) with urinary incontinence and lower abdominal pain. A computed tomography was ordered for her to rule out hydronephrosis, and incidentally, ovarian cysts were discovered that were then bilaterally excised via laparotomy. Our case report emphasizes the significance of considering such a diagnosis when coming across patients whose risk factors and symptoms match the diagnosis.
Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome is a rare, fatal, multisystem disorder. Bleeding problems, which occur spontaneously and post organ biopsies, ...have been reported in these patients. We report the case of an infant who had life-threatening spontaneous nasal bleeding. A detailed assessment of her platelet function and morphology is presented.
Susceptibility to breast cancer is significantly increased in individuals with germ line mutations in RECQ1 (also known as RECQL or RECQL1), a gene encoding a DNA helicase essential for genome ...maintenance. We previously reported that RECQ1 expression predicts clinical outcomes for sporadic breast cancer patients stratified by estrogen receptor (ER) status. Here, we utilized an unbiased integrative genomics approach to delineate a cross talk between RECQ1 and ERα, a known master regulatory transcription factor in breast cancer. We found that expression of ESR1, the gene encoding ERα, is directly activated by RECQ1. More than 35% of RECQ1 binding sites were cobound by ERα genome-wide. Mechanistically, RECQ1 cooperates with FOXA1, the pioneer transcription factor for ERα, to enhance chromatin accessibility at the ESR1 regulatory regions in a helicase activity-dependent manner. In clinical ERα-positive breast cancers treated with endocrine therapy, high RECQ1 and high FOXA1 coexpressing tumors were associated with better survival. Collectively, these results identify RECQ1 as a novel cofactor for ERα and uncover a previously unknown mechanism by which RECQ1 regulates disease-driving gene expression in ER-positive breast cancer cells.
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