Background: Although previous reports have shown a lower proportion of the ACTN3 XX genotype (R577X nonsense polymorphism) in sprint/power athletes compared with controls, possibly attributed to the importance of skeletal muscle function associated with alpha-actinin-3 deficiency, the findings on association between endurance athlete status and R577X genotype are equivocal. Purpose: The present study was undertaken to examine association of ACTN3 R577X genotype with elite Japanese endurance athlete status. Subjects and Methods: Subjects comprised 79 elite Japanese endurance runners (E) who participated in competition at national level and 96 Japanese controls (C). We divided endurance runners into two groups, i.e., 42 national level runners (E-N) and 37 international level runners (E-I) who had represented Japan in international competition. R577X genotype (rs1815739) was analyzed by direct sequencing. Frequency differences of polymorphisms between athletes and controls were examined by Chi-square tests. Result: The R allele frequency tended to be higher in E group than in C group (P=0.066). When we divided E into two groups, the R allele frequency in E-I group was significantly higher than that in C group (P=0.046); whereas there were no significant differences between E-N and C groups (p=0.316). Then, the three genetic models were tested. In the additive genetic model (RR>RX>XX), there were significantly differences between E-I and C (P=0.038), but not the dominant (RR vs. RX+XX) and the recessive (RR+RX vs. XX) genetic models. Conclusion: R allele of the R577X genotype in the ACTN3 gene was associated with elite Japanese endurance athlete status.

　　Epidermal growth factor receptor (EGFR) gene mutation examination is now performed in most medical institutions in order to select the molecular targeted medicine for lung cancer. It became clear that the positive rate of the biopsy material was lower than that of the surgical sample in this hospital. The cause was attributed to false negatives due to low tumor cell content in biopsy specimens. We investigated the presence of the mutation using surgical samples and preoperative biopsy specimens from the same patients in 13 cases. Furthermore, we investigated the tumor cell content of the biopsy specimens by cell counting. Results showed that 3 of 6 biopsy specimens that were associated with positive surgical samples were judged to be negative. The tumor cell content was less than 5% in all negative cases. Regarding EGFR gene mutation examination, we should carefully determine tumor cell content when using biopsy specimens.

A few studies have reported that nighttime sleep and daytime napping are significantly associated with sleep disorders, memory, concentration, cognitive ability, and academic performance in children. Moreover, sleep is identified as an important factor that has a profound effect on children’s athletic performance. If a short daytime nap is shown to benefit children involved in sports activities, this evidence could be used to improve children’s athletic performance in the afternoon. In this study, we investigated whether a short daytime nap could reduce the decline in athletic performance observed in the afternoon in children involved in basketball games. We investigated 10 elementary school-age male basketball players. The study was performed under two conditions, with and without a 20-min nap during the lunch break, and evaluation was performed under both conditions for 3 days each. The reaction and 20-m sprint times were measured after morning practice, before afternoon practice, and at the end of practice on all days. At the beginning of afternoon practice, the 20-m sprint time was significantly shorter (p<0.05) in the no-nap group (4.18±0.27 s) than in the nap group (4.24±0.24 s). In conclusion, our results suggest that a short daytime nap in children may reduce the decline in exercise performance observed in the afternoon.

We describe a rare case of sacral epidural arteriovenous fistulas (edAVFs) with atypical clinical course of treatment. A 78-year-old man with a history of spinal surgery presented progressive gait disturbance and urinary incontinence. Spinal angiography demonstrated a sacral spinal AVF fed by bilateral lateral sacral arteries, draining to the venous pouch with subdural drainage. The first treatment by direct interruption of a subdural drainer was incompletely finished. Postoperative reassessment by 3D imaging analysis led to the diagnosis of sacral edAVF and 3D understanding of its angioarchitecture. The second treatment by transarterial embolization (TAE) resulted in complete occlusion of a sacral edAVF. However, spinal venous congestion didn’t improve, because the recruitment of occult edAVFs at the multiple lumbar levels and complex-shaped sacral ventral epidural venous plexus (VEP) were involved in the remnant of prior subdural drainage. The third treatment was performed by TAE for three occult edAVFs and the VEP compartment connecting between a patent edAVF and subdural drainage, which resulted in complete disappearance of spinal cord edema. Endovascular embolization of VEP compartment connecting to subdural drainage in addition to fistulous occlusion may be one of the treatment options for several edAVFs at the multiple spinal levels.

STUDY DESIGN: Retrospective cohort study. PURPOSE: To investigate the effect of spinal correction on respiratory muscle strength in patients with Duchenne muscular dystrophy (DMD). OVERVIEW OF LITERATURE: Several studies have reported that scoliosis correction in patients with DMD does not improve pulmonary function. In these studies, pulmonary function was evaluated using the traditional spirometric values of percent vital capacity (%VC) and percent forced vital capacity (%FVC). However, traditional spirometry may not be suitable for patients with DMD because the results can be influenced by patient fatigue or level of understanding. Therefore, we evaluated respiratory function focusing on respiratory muscle strength using maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), and sniff nasal inspiratory pressure (SNIP), in addition to %VC and %FVC. METHODS: We retrospectively reviewed 16 patients with DMD who underwent spinal correction surgery between 2006 and 2011 at Kitasato University Hospital. All patients were males, and the mean age was 13.5 years. Respiratory muscle strength was evaluated using MIP, MEP, and SNIP. Measurements were obtained preoperatively and at 1 and 6 months postoperatively, and %VC and %FVC were obtained preoperatively and within 6 months postoperatively. RESULTS: The mean preoperative and postoperative %VC values were 54.0% and 51.7%, whereas the mean %FVC values were 53.9% and 53.2%, respectively. The mean MIP, MEP, and SNIP values obtained preoperatively and at 1 and 6 months postoperatively were as follows: MIP, 40.5, 42.7 and 47.2 cm H₂O; MEP, 26.0, 28.0, and 29.0 cm H₂O; and SNIP, 33.4, 33.0, and 33.0 cm H₂O; respectively. The mean MIP and MEP values significantly improved postoperatively. There were no significant differences in SNIP, %VC, or %FVC preand postoperatively. CONCLUSIONS: By focusing on respiratory muscle strength, our results suggest that scoliosis correction in patients with DMD might have a favorable effect on respiratory function.
Cohort Studies ; Fatigue ; Humans ; Male ; Muscular Dystrophy, Duchenne* ; Respiratory Muscles* ; Retrospective Studies ; Scoliosis* ; Spirometry ; Vital Capacity

Simultaneous creation of an enterostomy for enteral nutrition during esophagectomy has been useful in our experience, but bowel obstruction associated with intestinal fistula remains a problem. Therefore, in this study, we retrospectively reviewed 18 patients with esophageal cancer who underwent transdiaphragmatic transgastric tube enteral feeding catheter placement during gastric tube reconstruction via the mediastinal route after esophagectomy from November 2012 to March 2014. The catheter was guided from the gastric tube into the gastrointestinal tract, with the tip placed in the jejunum distal to the ligament of Treitz. From the gastric tube, the catheter was guided along the diaphragm to the anterior abdominal wall through the extraperitoneal route. No bowel obstruction associated with catheter placement has been observed in any of the patients from the time of surgery to this writing. Also, the procedure enabled jejunostomy use for more than 5 years, similar to conventional jejunostomy. We experienced 1 case of catheter deviation into the mediastinum. Overall, transgastric tube enteral feeding catheter placement for reconstruction of the posterior mediastinal gastric tube was useful for avoiding intestinal obstruction associated with jejunostomy. However, there may be a risk of catheter displacement into the mediastinum.

Chronic obstructive pulmonary disease (COPD) is a progressive lung disease causing dyspnea on exertion, exercise intolerance, decline in quality of life, and physical inactivity. The patient is a 78-year-old male. He complained of quadriplegia and was diagnosed with a C7/Th1 cervical epidural abscess. After treatment with antibiotics, he was transferred to our hospital. He had tetraplegia, which corresponded to the ASIA impairment scale D, and his Functional Independence Measure (FIM) motor score was 35 points. In addition, he had severe COPD; the Medical Research Council (MRC) dyspnea scale was grade 5, and the COPD assessment test (CAT) score was 26 points. He complained of dyspnea on exertion with low intensity movements. Despite rehabilitation, improvement in ADL and physical function was poor, his FIM motor score was 43 points and the Berg balance scale (BBS) score was 21 points at the 30th day. Therefore, we started assist use of a short-acting β2 agonist (SABA) before rehabilitation on the 33rd day, and his dyspnea on exertion, physical activity, and respiratory dysfunction improved. On the 83rd day, the improvement was as follows: the MRC dyspnea scale was grade 4, the CAT score was 18 points, his 6-minute walk distance was 110 m, and his BBS score was 40 points. He was weaned from continuous oxygen therapy and discharged on day 112, at which time his FIM motor score was 69 points. We considered that the assist use of SABA before rehabilitation improved his respiratory status and physical activity without worsening his respiratory function or limb muscle weakness due to dyspnea and quadriplegia.

We report here 2 cases of traumatic diaphragmatic hernia. Case 1 was a 76-year-old man who was injured in a road traffic accident (RTA). Chest X-ray and computed tomography (CT) revealed prolapse of the stomach into the left thoracic cavity. We performed laparotomy with a diagnosis of traumatic left diaphragmatic hernia. A 12-cm hole was seen in the central tendon of the left diaphragm and this was repaired by suturing. Case 2 was a 75-year-old man who was also injured in an RTA. Chest X-ray and CT revealed prolapse of the stomach and transverse colon into the left thoracic cavity. We performed laparotomy with a diagnosis of traumatic left diaphragmatic hernia. A 15-cm hole was seen in the central tendon of the left diaphragm and this was repaired by suturing. Traumatic diaphragmatic hernia is a relatively rare condition and one that requires surgical repair. It is important to make prompt diagnosis with appropriate radiological investigations. Additionally, patients with diaphragm hernia caused by blunt trauma often have injuries to other organs. Care should be taken so as not to miss associated injuries.

In our hospital, we typically perform laparoscopic partial gastrectomy as surgical treatment for extragastric growth type of submucosal tumor (SMT), and laparoscopic intragastric surgery for intragastric growth type. In 2008, laparoscopic and endoscopic cooperative surgery (LECS) was reported for the first time by Hiki et al. Against the background of LECS as laparoscopic local gastric resection with endoscopic resection, we started LECS for gastric SMT from 2015. 　　We performed laparoscopic (LAP) surgery for 15 gastric SMT cases from 2009, and compared 5 cases for which LECS was performed and 10 cases for which LAP was performed. Tumor diameter was 15–21 mm (mean 19.2 mm) in the LECS group, and 20–53 mm (mean 35.5 mm) in the LAP group; the LECS group had a significantly smaller tumor diameter. Operative time was 299 ± 45 min in LECS and 222 ± 25 min in LAP. The volume of blood loss was 24 ± 13 mL in LECS and 33 ± 13 mL in LAP. Hospitalization days was 14.0 ± 3.0 days in LECS and 12.9 ±0.8 days in LAP. There was no significant difference between them.

A 17-year-old male was admitted to our hospital because of strong abdominal pain. His symptoms gradually worsened even after hospitalization, and contrast computed tomography (CT) revealed hemorrhage in the abdominal cavity. Interventional radiology (IVR) was performed to identify the bleeding site. No obvious source of bleeding was identifiable on IVR, so we opted to perform laparoscopic examination and hemostasis. The intraperitoneal finding was hematoma in the omentum, and omentectomy was performed for idiopathic omental hemorrhage because there was no history of trauma. The postoperative course was good and the patient was discharged after postoperative day 4. Performing laparoscopic surgery for omental hemorrhage facilitated minimally invasive treatment with a short hospital stay.