Isolated Double-Chambered Right Ventricle in a Young Adult

Double-chambered right ventricle (DCRV) is a rare congenital heart disorder in which the right ventricle is divided by an anomalous muscle bundle into a high pressure inlet portion and a low pressure outlet portion. We report a case of isolated DCRV without symptoms in adulthood, diagnosed through echocardiography, cardiac catheterization and cardiac magnetic resonance imaging

Validation of Customized Cancer Panel for Detecting Somatic Mutations and Copy Number Alterations

Accurate detection of genomic alterations, especially druggable hotspot mutations in tumors, has become an essential part of precision medicine. With targeted sequencing, we can obtain deeper coverage of reads and handle data more easily with a relatively lower cost and less time than whole-exome or whole-genome sequencing. Recently, we designed a customized gene panel for targeted sequencing of major solid cancers. In this study, we aimed to validate its performance. The cancer panel targets 95 cancer-related genes. In terms of the limit of detection, more than 86% of target mutations with a mutant allele frequency (MAF) 3% MAF can be detected. When we applied this system for the analysis of Acrometrix Oncology Hotspot Control DNA, which contains more than 500 COSMIC mutations across 53 genes, 99% of the expected mutations were robustly detected. We also confirmed the high reproducibility of the detection of mutations in multiple independent analyses. When we explored copy number alterations (CNAs), the expected CNAs were successfully detected, and this result was confirmed by target-specific genomic quantitative polymerase chain reaction. Taken together, these results support the reliability and accuracy of our cancer panel in detecting mutations. This panel could be useful for key mutation profiling research in solid tumors and clinical translation

Incidence and Risk Factors Associated with Superior Mesenteric Artery Syndrome following Surgical Correction of Scoliosis

STUDY DESIGN: Retrospective study. PURPOSE: To more accurately determine the incidence and clarify risk factors. OVERVIEW OF LITERATURE: Superior mesenteric artery syndrome is one of the possible complications following correctional operation for scoliosis. However, when preliminary symptoms are vague, the diagnosis of superior mesenteric artery syndrome may be easily missed. METHODS: We conducted a retrospective study using clinical data from 118 patients (43 men and 75 women) who underwent correctional operations for scoliosis between September 2001 and August 2007. The mean patient age was 15.9 years (range 9~24 years). The risk factors under scrutiny were the patient body mass index (BMI), change in Cobb's angle, and trunk length. RESULTS: The incidence of subjects confirmed to have obstruction was 2.5%. However, the rate increased to 7.6% with the inclusion of the 6 subjects who only showed clinical symptoms of obstruction without confirmative study. The BMI for the asymptomatic and symptomatic groups were 18.4+/-3.4 and 14.6+/-3, respectively. The change in Cobb's angle for the asymptomatic and symptomatic groups were 24.8+/-13.6 degrees and 23.4+/-9.1 degrees , respectively. The change in trunk length for the asymptomatic and symptomatic groups were 2.3+/-2.1 cm and 4.5+/-4.8 cm, respectively. Differences in Cobb's angle and the change in trunk length between the two groups did not reach statistical significance, although there was a greater increase in trunk length for the symptomatic group than for the asymptomatic group. CONCLUSIONS: Our study shows that the incidence of superior mesenteric artery syndrome may be greater than the previously accepted rate of 4.7%. Therefore, in the face of any early signs or symptoms of superior mesenteric artery syndrome, prompt recognition and treatment are necessaryope

Effects of Gamma Radiation-Induced Crosslinking of Collagen Type I Coated Dental Titanium Implants on Osseointegration and Bone Regeneration

This study aimed to compare two methods of crosslinking collagen type I on implanted titanium surfaces, that is, using glutaraldehyde (GA) or gamma-rays (GRs), in a beagle dog model. For in vivo experiments, implants were allocated to three groups and applied to mandibular bone defects in beagle dogs; Group SLA; non-treated Sandblasted, large grit, acid-etched (SLA) implants, Group GA; SLA implants coated with GA crosslinked collagen type I, Group GR; SLA surface implants coated with collagen type I and crosslinked using 25 kGy of 60Co gamma radiation. New bone μCT volumes were obtained, and histologic and histometric analyses were performed in regions of interest. The GR group had significantly better new bone areas (NBAs) and bone to implant contact (BIC) results than the SLA group (p < 0.05), but the GA and GR groups were similar in this respect. New bone volumes and inter-thread bone densities (ITBD) were non-significantly different in the three groups (p > 0.05). Within the limits of this study, gamma-ray collagen crosslinking on titanium implants can be considered a substitute for glutaraldehyde crosslinking

Incidence of taxane-induced peripheral neuropathy receiving treatment and prescription patterns in patients with breast cancer

Taxane-induced peripheral neuropathy (TIPN) can affect quality of life and treatment outcomes in breast cancer patients. Despite the high incidence, treatment of PN has not been established. This study aimed to evaluate the incidence, risk factors, and prescribing pattern of TIPN receiving pharmacologic treatment in real-world practice. We conducted a retrospective chart review of 1629 breast cancer patients who received taxanes at the Seoul National University Hospital from July 2012 to June 2014. We determined the incidence and predictors for TIPN treated with anti-neuropathic pain medications during taxane treatment and the 1-year follow-up period after discontinuation of taxanes. The prescribing pattern of anti-neuropathic drugs was also analyzed. A total of 1516 patients with breast cancer were included, and the incidence of TIPN receiving treatment was 21.9% overall, with 42.2% of patients using paclitaxel and 15.8% using docetaxel. The median time to the first anti-neuropathic pain medication prescribed from the start of taxane treatment was 64 days and was significantly earlier in the paclitaxel group. In 21% of patients, TIPN treatment was started after the end of taxane treatment. Identified risk factors for TIPN were paclitaxel use (vs. docetaxel), old age, overweight, metastatic (vs. non-metastatic) breast cancer, and possibly a 3-weekly taxane schedule (vs. weekly). Gabapentin and pregabalin accounted for 71.7 and 24.3% of total use of anti-neuropathic agents, respectively. One-fifth of breast cancer patients who were treated with taxane-based chemotherapy experienced TIPN receiving treatment, and its risk factors were paclitaxel use, old age, overweight, and metastatic cancer

Gene rearrangements in the mitochondrial genome of robust tonguefish, Cynoglossus robustus (Pleuronectiformes: Cynoglossidae) and a comparative analysis with other Cynoglossus fishes

The complete mitochondrial genome was determined for the Robust tonguefish Cynoglossus robustus belonging to the family Cynoglossidae. The length of the complete mitochondrial genome is 16,720 bp, consisting of 13 protein-coding genes, 22 tRNA genes, two rRNA genes, and a control region. Rearrangements of the tRNAGln and a control region gene were found and tRNAGln is translocated from the light to the heavy strand. Phylogenetic analysis using mitochondrial genomes of 12 species showed that C. robustus formed a well-supported monophyletic group with other Cynoglossus species