Modification to the placement of the navigation reference frame in posterior corrective fusion of spinal deformity with myelomeningocele: a series of 6 cases.

To show a modified placement of the navigation reference frame in posterior corrective fusion of spinal deformity with myelomeningocele. This was a retrospective, single-surgeon case series, and IRB-approved study. Six consecutive patients (one male and five females) who were diagnosed with spinal deformity with myelomeningocele underwent posterior corrective fusion surgery from the upper thoracic spine to the pelvis with preoperative computed tomography navigation (pCTN). At the level of the spina bifida, where posterior elements such as the spinous process were missing, the reference frame of the pCTN was placed on the flipped lamina or pedicles, and a pedicle screw (PS) or iliac screw (IS) was inserted. Screw deviation was investigated by using postoperative CT. A total of 55 screws were placed at the spina bifida level and pelvis. Of these, 12 ISs were placed on each side in each case. The screws placed using the pCTN were not reinserted or removed intraoperatively or postoperatively. However, only one PS was found to have perforated the spinal canal on postoperative CT but was left in place because it caused no neurological problem. By modifying the placement of the reference frame, such as placing it on the flipped lamina or pedicles, pCTN could be used even at the levels of the spina bifida, where the posterior elements are missing, to accurately place PSs and various types of ISs.

No short-term clinical improvement and mean 6° of thoracic kyphosis correction using limited-level Ponte osteotomy near T7 for Lenke type 1 and 2 adolescent idiopathic scoliosis: a preliminary study.

This study was a retrospective single surgeon case series approved by institutional review board and showed the efficacy of limited Ponte osteotomy at T6/7, 7/8 and 8/9 (limited-PO) in the sagittal plane for patients with Lenke type 1 and 2 adolescent idiopathic scoliosis (AIS). A total of 37 consecutive patients [7 males and 30 females; average age 16.0 ±â€…2.5 (range: 12-21)] over a 4-year period with posterior corrective fusion surgery were included. Initially, 18 patients were operated on without limited-PO [P(-)-group]. Midway in the series, the senior author switched to the limited-PO [P(+)-group]. The limited-PO has been performed to form the apex of thoracic kyphosis at the T7 level, together with the restoration of thoracic kyphosis. The mean amount of the correction angle of thoracic kyphosis was more in the P(+)-than in P(-)-group (13.8 ±â€…9.6° vs. 7.8 ±â€…8.0°, P  = 0.046) at 1-year after surgery. Cervical lordosis was spontaneously corrected more in P(+)-than in P(-)-group. The apex of thoracic kyphosis was controlled around the T7 level postoperatively in most cases (18/19 cases). There was no significant difference between the two groups in terms of blood loss and operative time per level, or Scoliosis Research Society-22 domain scores. Limited-PO contributed to the restoration of the whole spinal sagittal alignment for Lenke type 1 and 2 AIS; however, in this preliminary study, the clinical improvement was unclear at least in the short term, because the kyphosis angle obtained by limited-PO was only approximately 6°.

High-Density Dielectrophoretic Microwell Array for Detection, Capture, and Single-Cell Analysis of Rare Tumor Cells in Peripheral Blood.

Development of a reliable platform and workflow to detect and capture a small number of mutation-bearing circulating tumor cells (CTCs) from a blood sample is necessary for the development of noninvasive cancer diagnosis. In this preclinical study, we aimed to develop a capture system for molecular characterization of single CTCs based on high-density dielectrophoretic microwell array technology. Spike-in experiments using lung cancer cell lines were conducted. The microwell array was used to capture spiked cancer cells, and captured single cells were subjected to whole genome amplification followed by sequencing. A high detection rate (70.2%-90.0%) and excellent linear performance (R2 = 0.8189-0.9999) were noted between the observed and expected numbers of tumor cells. The detection rate was markedly higher than that obtained using the CellSearch system in a blinded manner, suggesting the superior sensitivity of our system in detecting EpCAM- tumor cells. Isolation of single captured tumor cells, followed by detection of EGFR mutations, was achieved using Sanger sequencing. Using a microwell array, we established an efficient and convenient platform for the capture and characterization of single CTCs. The results of a proof-of-principle preclinical study indicated that this platform has potential for the molecular characterization of captured CTCs from patients.

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

Diastrophic dysplasia sulfate transporter (DTDST) is required for synthesis of sulfated proteoglycans in cartilage, and its loss-of-function mutations result in recessively inherited chondrodysplasias. The 40 or so DTDST mutations reported to date cause a group of disorders termed the diastrophic dysplasia (DTD) group. The group ranges from the mildest recessive form of multiple epiphyseal dysplasia (r-MED) through the most common DTD to perinatally lethal atelosteogenesis type II and achondrogenesis 1B. Furthermore, the relationship between DTDST mutations, their sulfate transport function, and disease phenotypes has been described. Here we report a girl with DTDST mutations: a compound heterozygote of a novel p.T266I mutation and a recurrent p.DeltaV340 mutation commonly found in severe phenotypes of the DTD group. In infancy, the girl presented with skeletal manifestations reminiscent of Desbuquois dysplasia, another recessively inherited chondrodysplasia, the mutations of which have never been identified. Her phenotype evolved with age into an intermediate phenotype between r-MED and DTD. Considering her clinical phenotypes and known phenotypes of p.DeltaV340, p.T266I was predicted to be responsible for mild phenotypes of the DTD group. Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group.

Enzymatic degradation of p-chlorophenol in a two-phase flow microchannel system.

Enzymatic degradation of p-chlorophenol was carried out in a two-phase flow in a microchannel (100 microm width, 25 microm depth) fabricated on a glass plate (70 mm x 38 mm). This is the first report on the enzymatic reaction in a two-phase flow on a microfluidic device. The surface of the microchannel was partially modified with octadecylsilane groups to be hydrophobic, thus allowing clear phase separation at the end-junction of the microchannel. The enzyme (laccase), which is surface active, was solubilized in a succinic aqueous buffer and the substrate (p-chlorophenol) was in isooctane. The degradation of p-chlorophenol occurred mainly at the aqueous-organic interface in the microchannel. We investigated the effects of flow velocity and microchannel shape on the enzymatic degradation of p-chlorophenol. Assuming that diffusion of the substrate (p-chlorophenol) is the rate-limiting step in the enzymatic degradation of p-chlorophenol in the microchannel, we proposed a simple theoretical model for the degradation in the microchannel. The calculated degradation values agreed well with the experimental data.