Actin mutations are one cause of congenital fibre type disproportion

We report three heterozygous missense mutations of the skeletal muscle alpha actin gene (ACTA1) in three unrelated cases of congenital fiber type disproportion (CFTD) from Japan and Australia. This represents the first genetic cause of CFTD to be identified and confirms that CFTD is genetically heterogeneous. The three mutations we have identified Leucine221Proline, Aspartate292Valine, and Proline332Serine are novel. They have not been found previously in any cases of nemaline, actin, intranuclear rod, or rod-core myopathy caused by mutations in ACTA1. It remains unclear why these mutations cause type 1 fiber hypotrophy but no nemaline bodies. The three mutations all lie on one face of the actin monomer on the surface swept by tropomyosin during muscle activity, which may suggest a common pathological mechanism. All three CFTD cases with ACTA1 mutations had severe congenital weakness and respiratory failure without ophthalmoplegia. There were no clinical features specific to CFTD cases with ACTA1 mutations, but the presence of normal eye movements in a severe CFTD patient may be an important clue for the presence of a mutation in ACTA1.     

Laparoscopically assisted total gastrectomy with sentinel node biopsy for early gastric cancer: preliminary results

This study sought to describe a procedure involving laparoscopically assisted total gastrectomy (LATG) with sentinel node biopsy (SNB) and to evaluate the results of the first three patients. LATG for early gastric cancer was performed with sentinel node (SN) identification using a combined patent blue-violet dye and 99mtechnetium-labeled tin colloid technique. Laparoscopically resected SNs were processed for frozen section examination by routine hematoxylin and eosin (H&E) and immunohistochemical cytokeratin (IHC-CK) stains. LATG consists of a four-surgical port technique, removal of the specimen through a small 5-cm laparotomy, and stapled Roux-en-Y esophagojejunostomy. Five patients were candidates for LATG with SNB between March 2001 and June 2003; two had open surgery because of a tumor extending the serosal surface and peritoneal dissemination, whereas in the remaining three, SNs were successfully identified and evaluated with no evidence of sentinel node (micro) metastases intraoperatively. Based on the results of SNB, three patients underwent LATG with adequate lymphadenectomy. Mean operative time and blood loss were 375 min and 219 mL, respectively. No dissected lymph nodes had evidence of metastasis by H&E and IHC-CK on permanent sections. LATG with SNB followed by adequate lymphadenectomy is technically feasible, and with its acceptable operative time and blood loss, presents an excellent therapeutic option for early gastric cancer; while SNB and subsequent frozen section analysis by H&E and IHC-CK staining is a rapid and reliable diagnostic method for intraoperative detection of SN (micro) metastasis. This combination treatment is a promising alternative to laparoscopic gastrectomy with conventional lymphadenectomy.     

Magnetic resonance angiographic localization of the artery of Adamkiewicz for spinal cord blood supply

Background

The purpose of this study was to determine whether the artery of Adamkiewicz (ARM) can be detected by magnetic resonance angiography and to determine the usefulness of preoperative magnetic resonance angiography evaluation of the ARM.

Methods

Between April 2000 and December 2003, 120 patients underwent magnetic resonance angiography for detection of the ARM. The morphology of the anterior spinal artery at the ARM junction, as revealed by magnetic resonance angiography, in 99 patients in whom ARM was preoperatively detected was classified into the following three types: noncontinuation of the anterior spinal artery above the ARM junction (type A), continuation of the anterior spinal artery above and below the ARM junction (type B), and noncontinuation of the anterior spinal artery below the ARM junction (type C).

Results

The ARMs were detected in 99 (83%) of 120 patients, and from a total of 110 ARMs 105 (95%) originated from intercostal arteries branching from the left side and 94 (86%) originated between Th9 and Th11. Two ARMs were found in 11 (11%) of 99 patients in whom ARMs were detected. In 107 patients, who underwent magnetic resonance angiography to reveal the morphology of the anterior spinal artery at the ARM junction, the patterns of the anterior spinal artery were type A in 59 patients (55%), type B in 21 patients (20%), type C in 3 patients (3%) and not classified in 24 patients (22%). No spinal cord injury occurred in patients in whom the ARM had been preoperatively detected.

Conclusions

Preoperative detection of the ARM is possible by magnetic resonance angiography and is very useful for reducing the incidence of ischemic injury of the spinal cord.     

Development of a new extracorporeal whole-liver perfusion system

We have developed a new extracorporeal whole-liver accommodation device in which a whole swine liver is placed in a physiological state by modeling the intraabdominal arrangement in the pig body, with the liver supported by a special inferior vena cava tube. Furthermore, we employed a diaphragm-type artificial heart in our system to produce pulsatile blood flow through the hepatic artery, which is considered to be indispensable to dilate peripheral vessels and supply oxygenated whole blood to the peripheral liver tissue. Beneficial effects were demonstrated in visual findings and bile juice secretion. The color of the liver surface in our system remained bright red, indicating that the liver vessels were well drained and free from congestion, and bile juice secretion was maintained at more than 10ml/h throughout the perfusion period. Our system exhibited excellent ammonia removal and urea nitrogen synthesis, and serum aspartate aminotransferase levels showed no increase, indicating the absence of hepatocyte destruction. Histological findings showed that the liver could expand appropriately and was free from compression caused by its own weight. In conclusion, our original liver accommodation device enabled appropriate expansion of the whole liver and supplied adequate oxygenated blood to peripheral areas by means of a pulsatile pump.     

Effects of antioxidant treatment in oligozoospermic and asthenozoospermic men

OBJECTIVE: To evaluate the effect of sairei-to, an herbal medicine, as an antioxidant in oligozoospermia and asthenozoospermia (nonnormozoospermia). STUDY DESIGN: Forty-seven nonnormozoospermic and 16 normozoospermic men were the subjects of this prospective clinical study. After sairei-to (9.0 g/d) was administered daily to the 2 groups for 3 months, sperm parameters, serum hormones and superoxide dismutase (SOD) activity in the serum and the seminal plasma was analyzed. The testicular artery was also assessed. RESULTS: After therapy, serum hormones and SOD activity did not change significantly in either group. Although men with normozoospermia did not undergo a significant change in sperm conditions or testicular artery flow, total sperm concentration (17.1 +/- 20.0 versus 28.7 +/- 35.5 x 10(6)/mL, P = .02) and sperm motility (30.1% +/- 21.6 versus 45.8% +/- 24.4, P < .0001) were significantly increased, and the pulsatility index of the testicular artery (2.03 +/- 0.84 versus 1.64 +/- 0.48, P = .04) was significantly decreased in nonnormozoospermia. CONCLUSION: Treatment with the herbal antioxidant sairei-to improves sperm condition and testicular artery flow in nonnormozoospermia.     

Comparison of body size and composition between young adult Japanese-Americans and Japanese nationals in the 1980s

BACKGROUND: Data on body composition of American-born Japanese (Japanese-Americans) are scarce. Studies on differences of body composition between Japanese-Americans and Japanese nationals at various stages of life as well as at various times of measurements are useful for understanding the impact of lifestyle changes on body composition in the two societies. AIM: To see the differences in body size and composition between young adult Japanese-Americans and Japanese nationals. SUBJECTS AND METHODS: Body size and composition of 50 Japanese-Americans consisting of 28 males and 22 females ranging in age from 18 to 23 years were compared with Japanese nationals matched for age and height. Body composition was measured using the underwater weighing method. The study was conducted in the 1980s in the USA and Japan. RESULTS: The average percentage body fat of males was 13.7% for both Japanese-Americans and Japanese nationals, and that of females was approximately 24% for both groups, even though Japanese-American males and females had significantly greater body weight, fat-free mass, and body mass index than Japanese nationals. CONCLUSION: Although young adult Japanese-Americans showed larger body size than Japanese nationals, their percentage fat did not differ at this stage of life in the 1980s.     

Control of liposidomycin production through precursor-directed biosynthesis

Liposidomycin, a potent inhibitor of bacterial peptidoglycan biosynthesis, represents the main component of a group of over 24 closely related, fatty acyl nucleoside antibiotics produced by Streptomyces. Exogeneously supplied myristic acid or palmitic acid resulted in the almost exclusive production of liposidomycin C-(III) and/or M-(III). Exogeneously supplied [1-13C]-palmitic acid was incorporated directly into liposidomycin M-(III) as judged by the FAB-MS and 13C NMR spectra.