Citations

Background The purpose of this study is to describe our experience and outcomes in oncoplastic pelvic reconstruction for patients who underwent either vertical rectus abdominis musculocutaneous (VRAM) or omental flap following abdominoperineal resection (APR) at a single tertiary care institution. Methods All patients who underwent pelvic reconstruction following APR with either VRAM or omental flaps from January 1992 to January 2017 were retrospectively reviewed. Patient demographics and relevant comorbidities including chemotherapy and radiation therapy data were collected and analyzed. In addition, margin status at the time of oncologic resection was analyzed. Flap-specific data were collected for each approach. Oncologic data collected included cancer type, stage at time of APR, and rate of tumor recurrence within the flap. Results A total of 562 patients were identified who underwent pelvic reconstruction with either VRAM or omental pedicle flaps. Of these, 274 (48.8%) underwent VRAM reconstruction and 288 (51.2%) underwent omental flap reconstruction. All margins were negative at time of cancer ablation surgery. Complications data included: seroma (VRAM = 2 [0.36%]; omentum = 32 [5.69%], p < 0.0001), wound dehiscence (VRAM = 31 [5.52%]; omentum = 17 [3.02%], p = 0.022), abscess (VRAM = 4 [0.71%]; omentum = 27 [4.8%], p < 0.0001), cellulitis (VRAM = 2 [0.36%]; omentum = 10 [1.78%], p = 0.025). Statistical comparison of tumor recurrence between these two reconstructive approaches showed a significantly higher recurrence rate in omental flaps compared with VRAM flaps (p = 0.000127). Conclusion The results of this study suggest a significantly higher tumor recurrence rate in omental flap pelvic reconstruction compared with VRAM flaps. This knowledge has the potential to influence surgical planning and flap selection in pelvic reconstruction.

AbstractBackgroundWe describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas.MethodsThe patient underwent extensive genetic testing and analysis in an attempt to diagnose the cause of his condition. Clinical testing included metaphase karyotyping, array comparative genomic hybridization, direct sequencing and multiplex ligation‐dependent probe amplification and trio‐based exome sequencing. Subsequently, research‐based whole transcriptome sequencing was conducted to determine whether it might shed light on the undiagnosed phenotype.ResultsClinical exome sequencing of patient and parent samples revealed a maternally inherited splice‐site variant in the doublecortin (DCX) gene that was classified as likely pathogenic and diagnostic of the patient's neurological phenotype. Clinical array comparative genome hybridization analysis revealed a 16p13.3 deletion that could not be linked to the patient phenotype based on affected genes. Further clinical testing to determine the cause of the patient's multiple osteochondromas was unrevealing despite extensive profiling of the most likely causative genes, EXT1 and EXT2, including mutation screening by direct sequence analysis and multiplex ligation‐dependent probe amplification. Whole transcriptome sequencing identified a SAMD12‐EXT1 fusion transcript that could have resulted from a chromosomal deletion, leading to the loss of EXT1 function. Re‐review of the clinical array comparative genomic hybridization results indicated a possible unreported mosaic deletion affecting the SAMD12 and EXT1 genes that corresponded precisely to the introns predicted to be affected by a fusion‐causing deletion. The existence of the mosaic deletion was subsequently confirmed clinically by an increased density copy number array and orthogonal methodologiesConclusionsWhile mosaic mutations and deletions of EXT1 and EXT2 have been reported in the context of multiple osteochondromas, to our knowledge, this is the first time that transcriptomics technologies have been used to diagnose a patient via fusion transcript analysis in the congenital disease setting.

Given the relationship between explosive-type training and power adaptation, tracking movement velocity has become popular. However, unlike previous variables, tracking velocity necessitates the use of a valid and reliable tool to monitor adaptation over time. Therefore, the primary purpose of this research was to assess the validity and reliability of a commercially-available linear position transducer (LPT). Nine resistance-trained men completed four sessions consisting of a single set of barbell back squat to volitional failure at 75% or 90% one-repetition maximum. Kinetic and kinematic data were captured for each repetition by the LPT and a 3-dimensional motion capture system and bipedal force platforms. In total, 357 instances of data from both systems were analyzed using intraclass correlations (ICC), effect size estimates, and standard error of measurement. Overall, the LPT yielded excellent ICCs (all ≥0.94) and small/trivial differences (d < 0.60). When categorized by median values, ICCs remained high (all ≥0.89) and differences remained small or trivial with the exception of high peak velocities (d = −1.46). Together, these data indicate that the commercially-available LPT is a valid and reliable measure for kinetic and kinematic variables of interest with the exception of high peak velocities.

Abstract Although recent advances in molecular genetics have enabled improved risk classification of follicular lymphoma (FL) using, for example, the m7-FLIPI score, the impact on treatment has been limited. We aimed to assess the prognostic significance of copy-number aberrations (CNAs) and copy-neutral loss of heterozygosity (cnLOH) identified by chromosome genomic-array testing (CGAT) at FL diagnosis using prospectively collected clinical trial specimens from 255 patients enrolled in the SWOG study S0016. The impact of genomic aberrations was assessed for early progression (progressed or died within 2 years after registration), progression-free survival (PFS), and overall survival (OS). We showed that increased genomic complexity (ie, the total number of aberration calls) was associated with poor outcome in FL. Certain chromosome arms were critical for clinical outcome. Prognostic CNAs/cnLOH were identified: whereas early progression was correlated with 2p gain (P = .007; odds ratio [OR] = 2.55 [1.29, 5.03]) and 2p cnLOH (P = .005; OR = 10.9 [2.08, 57.2]), 2p gain specifically encompassing VRK2 and FANCL predicted PFS (P = .01; hazard ratio = 1.80 [1.14, 2.68]) as well as OS (P = .005; 2.40 [1.30, 4.40]); CDKN2A/B (9p) deletion correlated with worse PFS (P = .004, 3.50 [1.51, 8.28]); whereas CREBBP (16p) (P &lt; .001; 6.70 [2.52, 17.58]) and TP53 (17p) (P &lt; .001; 3.90 [1.85, 8.31]) deletion predicted worse OS. An independent cohort from the m7-FLIPI study was explored, and the prognostic significance of aberration count, and TP53 and CDKN2A/B deletion were further validated. In conclusion, assessing genomic aberrations at FL diagnosis with CGAT improves risk stratification independent of known clinical parameters, and provides a framework for development of future rational targeted therapies.

Abstract Objective The Superior Mesenteric Artery Syndrome (SMAS) was first described by Rokitansky in 1842. Clinical symptoms include postprandial pain, nausea, vomiting and weight loss. Duodenojejunostomy is the treatment of choice for patients with SMAS. We now present a case of a young female with SMAS who successfully underwent laparoscopic duodenojejunostomy. Indications The first line treatment for SMAS is medical management, which includes infusion therapy, bowel rest, parenteral nutrition and a nasojejunal feeding tube inserted into the jejunum past the obstruction. If medical therapy fails, surgery is recommended. Procedure A symptomatic patient with body mass index (BMI) of 19.4 kg/m2 underwent laparoscopic duodenojejunostomy. The patient tolerated the procedure well. The post-operative period was uneventful and the patient was discharged after three days. On six month follow up, the patient had gained weight and her symptoms were completely resolved. Conclusion SMAS is still a poorly recognised pathology. A high index of suspicion should be given for patients with unclear causes of postprandial nausea, vomiting and abdominal pain, especially in young females. A laparoscopic approach seems to be safe and effective for patients with SMAS.