Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.

Our objective was to elucidate the genetic epidemiology of familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS) with OPTN mutations in the Japanese population. Mutational analysis of OPTN was conducted in 18 FALS pedigrees in whom mutations in other causative genes have been excluded and in 218 SALS patients by direct nucleotide sequence analysis. Novel non-synonymous variants identified in ALS patients were further screened in 271 controls. Results showed that although no mutations were identified in the FALS pedigrees, a novel heterozygous non-synonymous variant c.481G > A (p.V161M) was identified in one SALS patient, who originated from the southernmost part of the Kii Peninsula. The mutation was not present in 271 controls. As the clinical feature, the patient carrying V161M showed predominantly upper motor neuron signs with slow progression. This study suggests that mutations in OPTN are not the main cause of ALS in the Japanese population.

[Prospective study on anesthesia for lumbar spine surgery--the effectiveness of the perioperative epidural anesthesia with buprenorphine].

We prospectively evaluated the efficacy of perioperative epidural buprenorphine for lumbar spinal surgery under general anesthesia. Twenty-eight patients were allocated into two groups; in one group (buprenorphine group), patients underwent the surgery under general anesthesia with perioperative epidural buprenorphine 0.2 mg, in the other group (control group), patients underwent the surgery under general anesthesia only. The epidural injection was within 2 levels of the cephalad segment of the operating site. In both groups, fentanyl and flurbiprofen were intravenously injected intermittently in the same manner. In buprenorphine group, requirement of analgesics was less during and after surgery compared with the control group. Neurological evaluation immediately after surgery revealed no neurological side effects in both groups. We conclude that general anesthesia with perioperative epidural buprenorphine for lumbar spinal surgery is safe and useful.

Repair and regeneration of vertebral body after antero-lateral partial vertebrectomy using beta-tricalcium phosphate.

Antero-lateral partial vertebrectomy (ALPV) was used for decompression in 91 patients with multilevel cervical disorders. The high-speed drill was used to excise about 1/3 of the vertebral body for relief of anterior compression of the cord and nerve roots under the operating microscope. The key point was opening of the medial wall of the foramen of transverse process at the beginning of the ALPV, allowing the determination of the lateral borders of the ALPVs. To repair and regenerate the vertebral body, a beta-tricalcium phosphate (beta-TCP) block was trimmed into a cuneiform shape and implanted into the sites of the ALPV excluding the upper and lowermost vertebral bodies. Postoperative computed tomography confirmed that beta-TCP was gradually replaced by newly formed bone from the surface towards the center of the block, and that the affected vertebral body was remodeled by 6 to 12 months after the implantation of beta-TCP. The cortical bone borders on the bone marrow at the site of the regeneration. The pedicles on the side of the ALPVs were rebuilt during regeneration of the affected vertebrae. Thus, the vertebral foramen of the cervical spine was widened in the anterior direction at the levels of the ALPVs, resulting in restoration of the physiological size of the cervical cord. The cervical curvature remained unchanged and a certain degree of cervical mobility (mean 86%) was preserved in this series.