Prognostic value of the DNMTs mRNA expression and genetic polymorphisms on the clinical outcome in oral cancer patients

Clinical Oral Investigations - Although the importance of the epigenetic changes in tumors, including oral squamous cell carcinomas (OSCCs), is now becoming apparent, the mechanisms that trigger or...     

Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development

CONTEXT: We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X) and a predominantly 46,XY karyotype in the ovary (93% 46,XY and 6% 45,X). PATIENTS: A 46,XY mother who developed as a normal woman underwent spontaneous puberty, reached menarche, menstruated regularly, experienced two unassisted pregnancies, and gave birth to a 46,XY daughter with complete gonadal dysgenesis. RESULTS: Evaluation of the Y chromosome in the daughter and both parents revealed that the daughter inherited her Y chromosome from her father. Molecular analysis of the genes SOX9, SF1, DMRT1, DMRT3, TSPYL, BPESC1, DHH, WNT4, SRY, and DAX1 revealed normal male coding sequences in both the mother and daughter. An extensive family pedigree across four generations revealed multiple other family members with ambiguous genitalia and infertility in both phenotypic males and females, and the mode of inheritance of the phenotype was strongly suggestive of X-linkage. CONCLUSIONS: The range of phenotypes observed in this unique family suggests that there may be transmission of a mutation in a novel sex-determining gene or in a gene that predisposes to chromosomal mosaicism.     

Vascular Resection in Pancreatic Cancer

Pancreatic ductal adenocarcinoma (PDAC) is one of the most aggressive malignant tumors and represents the fifth most common cause of cancer-related deaths. It is associated with a poor prognosis, likely due to the tendency of the tumor for early local and distant spread. One of the major obstacles of effectively treating PDAC is the often late diagnosis. Among all options currently available for PDAC, surgical resection offers the only potential cure with 5-year survival rate of approximately 15–20 %. However, in the absence of metastatic disease, which precludes resection, assessment of vascular invasion is an important parameter for determining resectability for pancreatic cancer. The vascular involvement in patients with pancreatic carcinoma ranges between 21 and 64 %. Historically, vascular involvement has been considered a contraindication to resective cure. Meanwhile, the surgical approach of pancreatoduodenectomy (PD) combined with vascular resection and reconstruction has been widely applied in clinical practice to remove the tumor completely. Therefore, vascular invasion is no longer a surgical contraindication and the rate of surgical resection has greatly increased. Moreover, PD combined with vascular resection can account for 20 to 25 % of the total cases of PD surgery in a number of the larger pancreas treatment centers. The aim of this review is to provide an overview of management and outcome of vascular resection in PDAC surgery.     

Magnetic Resonance–Visible Meshes for Laparoscopic Ventral Hernia Repair

Methods:Ten patients were surgically treated with intraperitoneally positioned superparamagnetic flat meshes. A magnetic resonance investigation with a qualified protocol was performed on postoperative day 1 and at 3 months postoperatively to assess mesh appearance and demarcation. The total magnetic resonance–visible mesh surface area of each implant was calculated and compared with the original physical mesh size to evaluate potential reduction of the functional mesh surfaces.Results:We were able to show a precise mesh demarcation, as well as accurate assessment of the surrounding tissue, in all 10 cases. We documented a significant decrease in the magnetic resonance–visualized total mesh surface area after release of the pneumoperitoneum compared with the original mesh size (mean, 190 cm² vs 225 cm²; mean reduction of mesh area, 35 cm²; P < .001). At 3 months postoperatively, a further reduction of the surface area due to significant mesh shrinkage could be observed (mean, 182 cm² vs 190 cm²; mean reduction of mesh area, 8 cm²; P < .001).Conclusion:The new method of combining magnetic resonance imaging and meshes that provide enhanced signal capacity through direct integration of iron particles into the polyvinylidene fluoride base material allows for detailed mesh depiction and quantification of structural changes. In addition to a significant early postoperative decrease in effective mesh surface area, a further considerable reduction in size occurred within 3 months after implantation.     

Magnetic resonance imaging features of multiple duodenal lipomas: a rare cause of intestinal obstruction

A 65-year-old man was evaluated because of vomiting and epigastric pain. The patient underwent upper gastrointestinal endoscopy and endoscopic ultrasound examination and was found to have multiple polypoid lesions in the D1 and D2 portions of the duodenum, causing almost complete obstruction of the duodenal lumen. The lesions were hyperintense on T1-weighted and intermediately intense on T2-weighted images, with a drop in signal on T1- and T2-weighted fat-suppressed images, consistent with a diagnosis of duodenal lipomas. Pathohistological examination confirmed the diagnosis of duodenal lipomas.