Colonic Endometriosis: A Study of Near Obstructing Sigmoid Endometrioma.

A 41-year-old woman had a near-obstructing endometrioma involving the distal sigmoid colon treated with en bloc removal of the involved segment of colon and the adherent adnexa.

Endometrioma Causing Near-Complete Obstruction of the Sigmoid Colon.

Endometriosis is characterized by extra-uterine endometrial gland and stroma implantation. Intestinal endometriosis is believed to affect about one-third of patients with endometriosis4; 72-95% of patients experience recto-sigmoid involvement.2,3 Occasionally, endometriotic lesions precipitate mass effect or infiltrate the bowel wall, mimicking a neoplasm. In the index case, we evaluated a G0P0 41-year-old perimenopausal female with near obstructing sigmoid endometrioma, clinically presented, investigated, and managed in the lines of sigmoid colon carcinoma. Computed Tomography revealed marked distention of the distal descending and proximal sigmoid colon to the level of a [possible] intraluminal mass. CA-125 was 247.4. Transvaginal ultrasound revealed a heterogeneous irregularity adjacent the left adnexa. Flexible sigmoidoscopy to 12-15 cm was unable to pass liquid or visualize the lumen secondary to extrinsic colonic obstruction. She underwent exploratory laparotomy with sigmoidectomy, oversew of rectal stump, and descending colostomy. Left fallopian tube and ovary were adherent to sigmoid mass, therefore, removed en-bloc. Histopathological report revealed extensive endometriosis involving the muscularis propria and serosal surface of colon and ovary, with fibrinous serosal adhesions of the sigmoid colon. While inconsistent clinical presentation, similar radiographic features, and colonoscopy with other inflammatory or malignant lesions of the bowel makes the preoperative diagnosis challenging, colonic endometriosis is to always be considered as one of the differential diagnoses in reproductive age women with patterned, cyclic gastrointestinal symptoms, and intestinal masses of uncertain etiology or diagnosis.

Natural Genetic Variation Screen in Drosophila Identifies Wnt Signaling, Mitochondrial Metabolism, and Redox Homeostasis Genes as Modifiers of Apoptosis.

Apoptosis is the primary cause of degeneration in a number of neuronal, muscular, and metabolic disorders. These diseases are subject to a great deal of phenotypic heterogeneity in patient populations, primarily due to differences in genetic variation between individuals. This creates a barrier to effective diagnosis and treatment. Understanding how genetic variation influences apoptosis could lead to the development of new therapeutics and better personalized treatment approaches. In this study, we examine the impact of the natural genetic variation in the Drosophila Genetic Reference Panel (DGRP) on two models of apoptosis-induced retinal degeneration: overexpression of p53 or reaper (rpr). We identify a number of known apoptotic, neural, and developmental genes as candidate modifiers of degeneration. We also use Gene Set Enrichment Analysis (GSEA) to identify pathways that harbor genetic variation that impact these apoptosis models, including Wnt signaling, mitochondrial metabolism, and redox homeostasis. Finally, we demonstrate that many of these candidates have a functional effect on apoptosis and degeneration. These studies provide a number of avenues for modifying genes and pathways of apoptosis-related disease.