Staged repair of pentalogy of Cantrell with ectopia cordis and ventricular septal defect

Pentalogy of Cantrell is a rare congenital anomaly characterized by a combination of severe defects in the middle of the chest and abdomen including intracardiac defects. Survival rate after cardiac surgery is extremely low. We present a successful staged complete repair of an omphalocele, a ventricular septal defect and a sternal defect in a case of pentalogy of Cantrell.     

Interaction between ESRα polymorphisms and environmental factors in osteoporosis

We hypothesized that environmental factors might affect the relationship between genetic predisposition and the risk of bone mineral density (BMD) loss. Cases were 114 Japanese women with a confirmed diagnosis of postmenopausal osteoporosis and controls were 171 general Japanese women. Genetic risk of SNPs in the estrogen receptors was analyzed by a case–control study. The interaction between gene and environmental factors for osteoporosis were assessed by a case‐only design. Significant increases in osteoporosis risk were observed with minor alleles of rs2077647 located in the first exon and rs2234693 located in the first intron of estrogen receptor α (ESRα). Haplotype CC at these risk SNPs was strongly associated with osteoporosis risk (odds ratio [OR] = 3.15, 95% confidence interval [CI] = 1.83–5.41). There was a statistically significant interaction between haplotype CC and alcohol drinking; moderate alcohol consumption decreased genetic risk of osteoporosis (OR = 0.22, 95%CI = 0.05–0.83). © 2012 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 30:1529–1534, 2012     

Hemifacial spasm caused by intra-axial brainstem cavernous angioma with venous angiomas

Hemifacial spasms (HFS) are usually caused by vascular compression on the extra-axial facial nerve. In this case, we concluded that an intra-axial brainstem cavernous angioma with a venous angioma diagnosed by MRI must have been responsible for HFS, because no other possible causes were found during intraoperative observations.     

Risk Factor of Surgical Site Infection After Pancreaticoduodenectomy

Background

Although surgical site infection (SSI) following pancreaticoduodenectomy is a common complication, the risk factors remain unclear.

Patients and methods

A retrospective study of 408 consecutive patients undergoing pancreaticoduodenectomy was conducted and the risk factors for SSI were assessed. The bacterial composition was also analyzed.

Results

Sixty-one patients developed incisional SSI, and 195 developed organ/space SSI. A multivariate analysis identified that length of operation >480 min (odds ratio [OR] 3.22), main pancreatic duct (MPD) ≤3 mm (OR 2.18), and abdominal wall thickness >10 mm (OR 2.16) were significant risk factors for incisional SSI. The development of pancreatic fistula (OR 7.56), use of semi-closed drainage system (OR 3.68), body mass index >23.5 kg/m² (OR 3.04), MPD ≤3 mm (OR 2.21), and length of operation >480 min (OR 1.78) were significantly associated with organ/space SSI. Bacterial isolation at the SSI foci revealed that gut-derived micro-organisms were the predominant bacterial species.

Conclusions

The presence of pancreatic fistula was the strongest risk factor for organ/space SSI. Efforts to reduce the development of pancreatic fistulas, to decrease length of operation, and to use a closed drainage system would decrease the incidence of SSI following pancreaticoduodenectomy. If SSI that requires antibacterial treatment occurs, then the treatment should target enterobacteria.     

Small open reading frames associated with morphogenesis are hidden in plant genomes

It is likely that many small ORFs (sORFs; 30–100 amino acids) are missed when genomes are annotated. To overcome this limitation, we identified ∼8,000 sORFs with high coding potential in intergenic regions of the Arabidopsis thaliana genome. However, the question remains as to whether these coding sORFs play functional roles. Using a designed array, we generated an expression atlas for 16 organs and 17 environmental conditions among 7,901 identified coding sORFs. A total of 2,099 coding sORFs were highly expressed under at least one experimental condition, and 571 were significantly conserved in other land plants. A total of 473 coding sORFs were overexpressed; ∼10% (49/473) induced visible phenotypic effects, a proportion that is approximately seven times higher than that of randomly chosen known genes. These results indicate that many coding sORFs hidden in plant genomes are associated with morphogenesis. We believe that the expression atlas will contribute to further study of the roles of sORFs in plants.     

Effect of pentylenetetrazol treatment on cholecystokinin mRNA and peptide levels in rat hippocampus and cortex

After treatment with pentylenetetrazol (PTZ), cholecystokinin (CCK) mRNA and CCK-like immunoreactivity (CCK-LI) levels were determined in rat hippocampus and cortex at different time points. In the temporal cortex treatment with 60 mg/kg PTZ, i.p., induced increases of CCK mRNA and CCK-LI levels at 2 days after the injection. In the hippocampus, a similar increase of CCK mRNA level was observed on the second day. By contrast, in the frontal cortex, CCK-LI level was increased at 10 days after the treatment with PTZ. These data show that PTZ increases both CCK mRNA and CCK-LI levels in these rat brain regions at different time.     

Comparative study of regional cerebral blood flow values measured by Xe CT and Xe SPECT

The regional cerebral blood flow (rBCF) values measured by stable xenon-enhanced computed tomography (Xe XT) and by radioactive xenon-133 single photon emission computed tomography (Xe SPECT) were compared in 16 patients with cerebral infarct. On the non-lesion side Xe SPECT recorded 10.7% higher rCBF values than Xe CT in the anterior cerebral artery territory while Xe CT recorded 9.6% higher values than Xe SPECT in the middle cerebral artery territory. These differences were not statistically significant. Although the rCBF values were almost the same no correlation was found between the two methods in the posterior cerebral artery territory and the basal ganglia. Only hemispheric CBF on the non-lesion side showed the same value and a good correlation between the Xe CT and the Xe SPECT. There was a good correlation in the hemispheric CBF values on the lesion side, too. The difference of rCBF between the non-lesion side and the lesion side was expressed smaller in the Xe SPECT than in the Xe CT. This is in agreement with the previous reports that Xe SPECT overestimates the flow in the low flow areas. The higher rCBF values in the anterior cerebral artery territory measured by the Xe SPECT was ascribed to the artifact from the radioactivities in the inhalation mask and the air passages as reported previously. In conclusion, there is no good correlation between the rCBF values measured by the Xe CT and by the Xe SPECT. Only hemispheric CBF shows a good correlation between the two methods.     

Association analysis of FEZ1 variants with schizophrenia in Japanese cohorts.

BACKGROUND: DISC1 has been suggested as a causative gene for psychoses in a large Scottish family. We recently identified FEZ1 as an interacting partner for DISC1. To investigate the role of FEZ1 in schizophrenia and bipolar disorder, case-control association analyses were conducted in Japanese cohorts. METHODS: We performed a mutation screen of the FEZ1 gene and detected 15 polymorphisms. Additional data on informative polymorphisms were obtained from public databases. Eight single nucleotide polymorphisms (SNPs) were analyzed in 119 bipolar disorder and 360 schizophrenic patients and age- and gender-matched control subjects. All genotypes were determined with the TaqMan assay, and selected samples were confirmed by sequencing. RESULTS: The two adjacent polymorphisms displayed a nominally significant association with schizophrenia (IVS2+ 1587G>A, p = .014; 396T   

Clinical significance of manganese superoxide dismutase in ovarian carcinoma

A monoclonal antibody to manganese superoxide dismutase (Mn-SOD) was measured in patients with epithelial ovarian carcinomas. An enzyme-linked immunosorbent assay has been developed to detect serum Mn-SOD. With this assay, only 0.9% of the 207 healthy females tested had more than 130 ng per milliliter of serum Mn-SOD. In contrast, 37 of 62 patients (59.7%) with epithelial ovarian carcinomas showed high levels of Mn-SOD. The serum Mn-SOD increased according to the clinical stage and declined to reflect the effects of therapy. Compared with CA-125, Mn-SOD showed a less frequent false positive rate (10%) in benign gynecological diseases. The determination of Mn-SOD levels proved to be a clinically useful marker for monitoring the response to treatment and to early detection of the recurrence of epithelial ovarian carcinomas.