Medullary CRC is more common than previously reported, frequently presents with locally advanced disease, and may be associated with higher mortality at 30 days after resection. Despite this, when strict criteria are used for diagnosis, the overall survival is favorable when compared with CRCs with equivalent demographic and pathological characteristics.
Von Hippel‐Lindau disease (VHL) is a heritable condition caused by pathogenic variants in VHL and is characterized by benign and malignant lesions in the central nervous system (CNS) and abdominal viscera. Due to its variable expressivity, existing efforts to collate VHL patient data do not adequately capture all VHL manifestations. We developed a comprehensive and standardized VHL database in the web‐based application, REDCap, that thoroughly captures all VHL manifestation data. As an initial trial, information from 86 VHL patients from the University Health Network/Hospital for Sick Children was populated into the database. Analysis of this cohort showed missense variants occurring with the greatest frequency, with all variants localizing to the α‐ or β‐domains of VHL. The most prevalent manifestations were central nervous system (CNS), renal, and retinal neoplasms, which were associated with frameshift variants and large deletions. We observed greater age‐related penetrance for CNS hemangioblastomas with truncating variants compared to missense, while the reverse was true for pheochromocytomas. We demonstrate the utility of a comprehensive VHL database, which supports the standardized collection of clinical and genetic data specific to this patient population. Importantly, we expect that its web‐based design will facilitate broader international collaboration and lead to a better understanding of VHL.
Small bowel evisceration through the vagina is a rare surgical emergency that requires urgent surgical intervention because of the risk of developing acute small bowel ischemia. We present a case of a 91 year old female presenting with acute small bowel evisceration with majority of her small bowel visible outside the vagina. The bowel wall was edematous requiring emergent laparotomy and reduction of bowel with repair of the vaginal vault. The patient did not require bowel resection. Transvaginal small bowel evisceration is uncommonly described in the literature. Rare cases are reported in elderly, post-menopausal women who have undergone hysterectomy. Multiple approaches to surgical management including laparoscopic, open abdominal, transvaginal as well as combined approaches have been described. Perineal herniation must be kept in the differential in elderly post-hysterectomy patients with sudden onset of abdominal pain with urgent surgical intervention advised.
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