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BackgroundHippocampal sclerosis (HS) is the most common pathological type of temporal lobe epilepsy (TLE) and one of the important surgical markers. Currently, HS is mainly diagnosed manually by radiologists based on visual inspection of MRI, which greatly relies on MRI quality and physician experience. In clinical practice, non-thin MRI scans are often used due to the time and efficiency needed for the acquisition. However, these scans can be difficult for junior physicians to interpret accurately. Thus, the rapid and accurate diagnosis of HS using real-world MRI images in clinical settings is a challenging task.ObjectiveOur aim was to explore the feasibility of using computer vision methods to diagnose HS on real-world clinical MRI images and to provide a reference for future clinical applications of artificial intelligence methods to aid in detecting HS.MethodsWe proposed a deep learning algorithm called “HS-Net” to discriminate HS using real-world clinical MRI images. First, we delineated and segmented a region of interest (ROI) around the hippocampus. Then, we utilized the fractional differential (FD) method to enhance the textures of the ROIs. Finally, we used a small-sample image classification method based on transfer learning to fine-tune the feature extraction part of a pretrained model and added two fully connected layers and an output layer. In the study, 96 TLE patients with HS confirmed by postoperative pathology and 89 healthy controls were retrospectively enrolled. All subjects were cross-validated, and models were evaluated for performance, robustness, and clinical utility.ResultsThe HS-Net model achieved an area under the curve (AUC) of 0.894, an accuracy of 82.88%, an F1-score of 84.08% in the test cohort based on real, routine, clinical T2-weighted fluid attenuated inversion recovery (FLAIR) sequence MRI images. Additionally, the AUC, accuracy and F1 scores of our model all increased by around 3 percentage points when the inputs were augmented with the ROIs of the textures enhanced using the FD method.ConclusionsOur computational model has the potential to be used for the diagnosis of HS in real clinical MRI images, which could assist physicians, particularly junior physicians, in improving the accuracy of discrimination.

Background Hard tissues, especially teeth and bones, are highly mineralized and the large-scale defect or total loss of them is irreversible. Scaffolds fabricated with polyether ether ketone (PEEK) and hydroxyapatite (HA) were considered as substitute materials with osteogenic properties but poor mechanical properties. There is a lack of a construction strategy of HA/PEEK scaffolds that can balance mechanical and biological properties and the in vitro and in vivo evaluation of them. Methods Based on fused deposition melting (FDM), we regulated the crystallinity and mixing ratio of HA of HA/PEEK scaffolds, and explored the material characterization including crystallinity, element content and mechanical properties and biological properties including cell proliferation, migration, osteogenic differentiation of different scaffolds. And we further mimicked the clinical application on the Beagles by implanting the scaffolds to reconstruct the defect of teeth, mandibles and ribs. Results We found that the 3D-20%HA/PEEK scaffolds with low crystallinity achieved the required strength and elasticity, and exhibited the characteristics of promoting the proliferation, migration and osteogenic differentiation of bone marrow mesenchymal stem cells (BMMSCs). The results of the implantation of Beagles’ teeth, mandible and rib showed that the 3D-20%HA/PEEK scaffold with low crystallinity could well withstand the local complex force in the defect area and combine well with natural bone tissue. Conclusion The HA/PEEK scaffolds constructed with this strategy had appropriate mechanical properties to withstand complex forces, and good bone regeneration effect, which made them practical and versatile on hard tissue engineering.

The γ-aminobutyric acid type A receptors (GABAAR) have been reported to contribute to the pathogenesis of epilepsy and the recurrence of chronic seizures. Genetic polymorphisms in GABRA1 and GABRA6 may confer a high risk of epilepsy and multiple drug resistance, but with conflicting results. We aimed to assess the association of GABRA1 rs2279020 and GABRA6 rs3219151 with epilepsy risk using a meta-analysis. The databases of Pubmed, Ovid, Web of Science, and China National Knowledge Infrastructure were searched. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were computed to evaluate the association between the polymorphisms and epilepsy risk using a fixed- or random-effect model. Trial sequential analysis (TSA) was performed to assess the results of the meta-analysis. No significant association between the GABRA1 rs2279020 and GABRA6 rs3219151 and the risk of epilepsy was found in the Asian and Arabic populations. The negative results were also observed when comparing the GABRA1 rs2279020 and GABRA6 rs3219151 polymorphism to antiepileptic drug responsiveness. The trial sequential analysis confirmed the results of the meta-analysis. This meta-analysis suggests that GABRA1 rs2279020 and GABRA6 rs3219151 are not risk factors for the etiology of epilepsy and antiepileptic drug responsiveness in the Asian and Arabic populations.

Microtubule-targeting agents (MTAs) are the most commonly used anti-cancer drugs. At least fourteen microtubule inhibitors and ten antibody drug conjugates (ADCs) linking MTAs are approved by FDA for clinical use in cancer therapy. In current research, we determined the crystal structure of tubulysin analogue TGL in complex with tubulin at a high resolution (2.65 A). In addition, we summarized all of the previously published high-resolution crystal structures of ligands in the vinca site to provide structural insights for the rational design of the new vinca-site ligands. Moreover, based on the aligned results of the vinca site ligands, we provided three possible routes for designing new tubulysin analogues, namely macrocyclization between the N-14 side chain and the N-9 side chain, the hybird of tubulysin M and phomopsin A, and growing new aryl group at C-21. These designed structures will inspire the development of new MTAs or payloads in cancer therapy.

Previous studies have investigated the association between rs2304016 and rs17183814 polymorphisms in sodium voltage-gated channel alpha subunit 2 (SCN2A) and epilepsy risk and responsiveness to antiepileptic drugs (AEDs) but with conflicting results. Our aim was to reevaluate the relationship by performing a systematic review and meta-analysis. By searching PubMed, Medline, and CNKI, 14 studies were selected. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were computed to measure the association between rs17183814 and rs2304016 polymorphisms and the risk of epilepsy and AEDs response using the fixed-effects model or the random-effects model. No significant association between the rs17183814 in SCN2A and the risk of epilepsy was observed (heterozygous comparison: OR = 0.78, 95% CI: 0.61–1.00; homozygous comparison: OR = 1.34, 95% CI: 0.63–2.86; dominant model: OR = 0.82, 95% CI: 0.64–1.04; recessive model: OR = 1.44, 95% CI: 0.68–3.05; allele comparison: OR = 0.88, 95%CI: 0.71–1.10). Moreover, neither the rs17183814 nor the rs2304016 was associated with AEDs response. This meta-analysis suggests that the rs17183814 and rs2304016 polymorphisms in SCN2A are not associated with the risk of epilepsy and response to AEDs.

Purpose Accumulating evidence indicates that genetic polymorphisms in ATP-binding cassette superfamily members, such asABCC2 and ABCG2, alter responses to antiepileptic drugs (AEDs); however, this evidence is controversial and inconclusive. To provide strong evidence of the association between common polymorphisms in ABCC2 and ABCG2 and AED responses in patients with epilepsy, we performed a systematic review and meta-analysis. Methods A literature search of electronic databases (PubMed, EBSCO, Ovid and the China National Knowledge Infrastructure) was performed. To evaluate the association of genetic polymorphisms inABCC2 and ABCG2 and risk of AED treatment, we calculated pooled odds ratios (ORs) and 95 % confidence intervals (CIs) using a fixed- or random-effect model. Results A significant association of theABCC2 rs717620 polymorphism with resistance to AEDs was found in the overall pooled populations (homozygous comparison: OR = 1.77, 95 % CI, 1.27–2.48; dominant model: OR = 1.23, 95 % CI, 1.06–1.43; recessive model: OR = 1.75, 95 % CI, 1.28–2.40) and Asians (dominant model: OR = 1.21, 95 % CI, 1.03–1.42; recessive model: OR = 1.80, 95 % CI, 1.30–2.50). Using a recessive model, a similarly significant association of ABCC2 rs3740066 with AED resistance was observed in the overall pooled populations (OR = 2.29, 95 % CI, 1.44–3.64) and Asians (OR = 2.53, 95 % CI, 1.56–4.08). However, ABCC2 rs2273697, ABCG2 rs2231137 and rs2231142 were not found to be associated with AED responsiveness. Conclusion This meta-analysis suggests thatABCC2 rs717620 and rs3740066 are risk factors that predict responses to AEDs in epileptic patients.

Background and Objective Recurrence is a major problem in craniopharyngioma (CP) management. Recent study shows that high FABP5/CRABPII may be related to tumor growth and that all- trans retinoic acid (ATRA) may suppress primary CP growth. We studied the expression profile of FABP5 and CRABPII in recurrent CP tissue and the effect of ATRA on recurrent CP cells. Methods Fifty cases of patients with CP were enrolled in the retrospective study. Among them, 15 were recurrent. Fresh specimens were collected for immunohistochemistry, reverse transcription polymerase chain reaction, and western blotting analysis of FABP5 and CRABPII. Fresh specimens from 6 primary and recurrent CPs were collected and subjected to cell culture using an explants method. ATRA at various concentrations was applied to recurrent CP cell culture, and cell growth was recorded and analyzed. Results Immunohistochemistry, reverse transcription polymerase chain reaction, and western blot study showed that FABP5 was expressed significantly higher in recurrent tumors, whereas CRABPII was expressed significantly higher in primary tumors. The FABP5/CRABPII ratio was significantly higher in recurrent rather than primary tumors. Recurrent CP cells grew faster than primary cells, and ATRA induced cellular apoptosis and inhibited CP cell growth in a dose-dependent manner. Conclusions A high expression ratio between FABP5 and CRABPII may be related to CP tumor recurrence and ATRA could be a potential therapeutic agent for CP chemotherapy.

A genome-wide association study (GWAS) identified that BET1L rs2280543 at chromosome 11p15.5 was a susceptibility loci of intracranial aneurysm (IA). Long noncoding RNA H19, located in this region, was reported to play a crucial role in the formation of IA. In this study, we aimed to examine whether BET1L rs2280543 and potentially functional polymorphisms in H19 influence the risk of IA. A hospital-based case-control study was performed involving 542 IA patients and 588 age- and gender-matched controls. The BET1L rs2280543 and H19 polymorphisms were genotyped using the TaqMan assay. The BET1L rs2280543 CT, CT/TT genotypes, and T allele were associated with an increased risk of IA (CT vs. CC, adjusted OR = 1.43, 95% CI: 1.08-1.90, P = 0.01; CT/TT vs. CC, adjusted OR = 1.48, 95% CI: 1.12-1.94, P = 0.005; and T vs. C, adjusted OR = 1.44, 95% CI: 1.13-1.83, P = 0.003). Similarly, the H19 rs217727 TT genotype and T allele were associated with an increased risk of IA (TT vs. CC, adjusted OR = 1.90, 95% CI: 1.35-2.67, P < 0.001; T vs. C, adjusted OR = 1.38, 95% CI: 1.16-1.64, P < 0.001). Combined analyses revealed that the rs2280543 CC-rs217727 CT/TT, rs2280543 CT/TT-rs2735971 GG, and rs217727 CT/TT-rs2735971 GG genotypes were related to the risk of IA. Interaction analysis showed that the 3-loci model of rs2280543-rs217727-rs2839698 contributed to an increased risk of IA. These findings suggest that the GWAS-discovered risk loci BET1L rs2280543 may increase IA susceptibility by interacting with lncRNA H19.

A genome-wide association study (GWAS) identified that BET1L rs2280543 at chromosome 11p15.5 was a susceptibility loci of intracranial aneurysm (IA). Long noncoding RNA H19, located in this region, was reported to play a crucial role in the formation of IA. In this study, we aimed to examine whether BET1L rs2280543 and potentially functional polymorphisms in H19 influence the risk of IA. A hospital-based case-control study was performed involving 542 IA patients and 588 age- and gender-matched controls. The BET1L rs2280543 and H19 polymorphisms were genotyped using the TaqMan assay. The BET1L rs2280543 CT, CT/TT genotypes, and T allele were associated with an increased risk of IA (CT vs. CC, adjusted OR=1.43, 95% CI: 1.08-1.90, P=0.01; CT/TT vs. CC, adjusted OR=1.48, 95% CI: 1.12-1.94, P=0.005; and T vs. C, adjusted OR=1.44, 95% CI: 1.13-1.83, P=0.003). Similarly, the H19 rs217727 TT genotype and T allele were associated with an increased risk of IA (TT vs. CC, adjusted OR=1.90, 95% CI: 1.35-2.67, P<0.001; T vs. C, adjusted OR=1.38, 95% CI: 1.16-1.64, P<0.001). Combined analyses revealed that the rs2280543 CC-rs217727 CT/TT, rs2280543 CT/TT-rs2735971 GG, and rs217727 CT/TT-rs2735971 GG genotypes were related to the risk of IA. Interaction analysis showed that the 3-loci model of rs2280543-rs217727-rs2839698 contributed to an increased risk of IA. These findings suggest that the GWAS-discovered risk loci BET1L rs2280543 may increase IA susceptibility by interacting with lncRNA H19.

β-amyloid precursor protein (β-APP), also known as Aβ peptide, has a key role in the pathogenesis of Alzheimer's disease, and is also likely to be involved in the development of refractory epilepsy. The mechanism behind the association between β-APP and refractory epilepsy remains to be elucidated. The aim of the present study was to examine the levels of APP mRNA and β-APP protein in patients with refractory epilepsy. Tissue samples were obtained from patients with chronic pharmacoresistant epilepsy who underwent surgery. Levels of APP mRNA and β-APP protein in epileptic temporal lobe and hippocampal tissue were assessed using quantitative polymerase chain reaction, immunohistochemistry and immunofluorescence. The expression levels of protein significantly increased in the temporal cortex and the hippocampus of the patients with epilepsy. β-APP may thus contribute to the pathogenesis of refractory epilepsy.

Objective: Growing evidence indicates that vascular inflammation is a common phenomenon in the pathogenesis of intracranial aneurysms (IAs). Nuclear factor kappa B is a key molecule that is involved in the vascular inflammation of IA. We hypothesized that an insertion/deletion (ins/del) ATTG polymorphism located between two putative key promoter regulatory elements in the NFKB1 gene may be related to the risk of IA. Methods: We performed a case–control study, including 164 patients with IA and 525 healthy controls in a Chinese population using a polymerase chain reaction–polyacrylamide gel electrophoresis assay. Results: A significantly decreased risk of IA was observed in the ATTG1/ATTG2 and ATTG2/ATTG2 genotypes compared with the ATTG1/ATTG1 genotype (ATTG1/ATTG2 vs. ATTG1/ATTG1: odds ratio [OR]=0.58, 95% confidence interval [95% CI]=0.39–0.87, p=0.007; ATTG2/ATTG2 vs. ATTG1/ATTG1: OR=0.12, 95% CI=0.06–0.23, p

Growing evidence indicates that tumor suppressor gene TP-53 and non-coding RNA miR-34b/c independently and/or jointly play crucial roles in carcinogenesis. We hypothesized that the polymorphisms of rs4938723 in the promoter region of pri-miR-34b/c and TP-53 Arg72-Pro may be related to the risk of nasopharyngeal carcinoma (NPC). We performed a case–control study between 217 patients with NPC and 360 healthy controls in a Chinese population using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) assay. A significantly increased risk of NPC was observed in the miR-34b/c rs4938723 CT/CC genotypes compared with the TT genotype (adjusted OR = 1.44, 95 % CI 1.02–2.03, p = 0.04), and also the C allele (adjusted OR = 1.33, 95 % CI 1.04–1.70, p = 0.03). The gene–gene interaction of miR-34b/c rs4938723 and TP-53 Arg72-Pro showed that the combined genotypes of rs4938723CT/CC and TP-53CG/CC increased the risk of NPC (rs4938723CT/CC + TP-53CG/CC vs. rs4938723 TT + TP-53 CG/CC: OR = 1.58, 95 % CI 1.04–2.42, p = 0.03). These findings suggest that miR-34b/c rs4938723 and TP-53 Arg72Pro polymorphisms may singly or collaboratively contribute to the risk of NPC.

Hormone receptors are related to the biological behavior and recurrence of craniopharyngioma (CP). The effect of therapeutic growth hormone (GH) replacement on CP growth remains largely unclear. We intended to study expression patterns of GH-related receptors in CP, and to study the effect of GH and its mediator, insulin-like growth factor-1 (IGF-1), as well as tamoxifen, on primary CP cell cultures. Primary cell cultures were established from fresh tumor specimens. The expression of GH receptor (GHR) and IGF-1 receptor (IGF-1R) in tumor specimens was studied using immunohistochemistry. Cell cultures were treated with various concentrations of recombinant GH, IGF-1 and tamoxifen. Cell growth promotion or inhibition was assayed using the Trypan blue dye exclusion test of cell viability. Expression of GHR, IGF-1R, phosphorylated-Akt and Akt after treatment was studied using Western blot assay. Twenty-nine primary cultures from 36 patients were established. GHR and IGF-1R were expressed in tumor tissue. The promotion of cell growth by GH compared to control was most prominent at 100 ng/mL, while inhibition by tamoxifen was concentration dependent. IGF-1 was more effective in promoting growth in CP cell cultures with high IGF-1R expression, and it increased phosphorylation of Akt protein. Primary cell cultures can be established in more than 80% of fresh CP specimens. GH and its endogenous mediator, IGF-1, promotes CP cell growth in vitro, while tamoxifen inhibits growth.

MicroRNAs (miRs)-143/145 are involved in various biological processes related to aneurysm formation and are downregulated in patients with intracranial aneurysm (IA). We aimed to determine whether two functional polymorphisms (i.e. rs4705342 and rs4705343) in the promoter of miR-143/145 are related to IA risk. A case-control study was undertaken to examine the association of rs4705342 and rs4705343 with IA risk, including 565 patients with IA and 622 age- and gender-matched controls. rs4705342 was analysed by TaqMan Assay, and rs4705343 was genotyped using polymerase chain reaction-restriction fragment length polymorphism. miR-143/145 expression was quantified using RT-PCR. rs4705342 was associated with a significantly lower risk of IA, with adjusted ORs of 0.74 (95% CI: 0.58–0.95) for TC genotype carriers and 0.74 (95% CI: 0.59–0.94) for TC/CC genotypes carriers. Individuals carrying the rs4705342 C allele had a reduced risk of IA (adjusted OR = 0.82; 95% CI: 0.68–0.98). Haplotype of the two loci of rs4705342 and rs4705343 showed that the CT haplotype carried a lower IA risk and higher miR-143 level. Moreover, the rs4705342 CC/CT genotypes were associated with higher miR-143 levels. Thus, the rs4705342C-rs4705343T haplotype in the promoter of miR-143/145 cluster may be related to IA development.

This study was undertaken to assess the clinical and radiological characteristics of children with traumatic extradural hematoma (TEDH), and factors affecting the initial neurological status and outcome. Medical records of 269 consecutive children with TEDH from 2005 to 2012 were retrospectively reviewed, factors affecting the initial neurological status and outcomes were explored using univariate and multivariate analysis. There were 166 boys and 103 girls (average age: 7.0 years). Fall from a height (59 %) was the most common mechanism of head injury. With increasing age, an increase of motor-vehicle accident and assault was noted. Among the children 85.5 % experienced a Glasgow Coma Scale (GCS) of 13–15, 9.7 % with GCS 9–12, and 4.8 % with GCS 3–8. The main clinical manifestations were headache, vomiting and nausea, and conscious disturbance. The main locations were the temporal, temporoparietal, and frontal regions. The 97.4 % saw a favorable outcome, whereas 2.6 % had a poor outcome (overall mortality: 1.1 %). Many factors influenced the prognosis; the most important factors affecting prognosis were the initial neurological condition and secondary brain edema, while the initial neurological status were associated with pupillary abnormality, clinical progression, the number and volume of TEDH, and midline shift. Although the outcome was excellent in most cases, early diagnosis and surgical evacuation before irreversible brain damage was important to lower mortality for those massive TEDHs.

Emerging evidence from preclinical and clinical studies has shown that interleukin-12 (IL-12) has some effectiveness against endogenously arising brain tumor. The aim of this study was to investigate interactions of IL-12A and IL-12B polymorphisms on the risk of brain tumor. We analyzed IL-12A rs2243115 and IL-12B rs3212227 polymorphisms in 170 patients with brain tumor and 222 healthy controls in a Chinese population using a polymerase chain reaction-restriction fragment length polymorphism assay and DNA sequencing method. Individuals carrying a G allele of IL-12A rs2243115 had a significantly higher risk of developing brain tumor compared with those carrying a T allele (odds ratio [OR]=2.01, 95% confidence interval [CI], 1.17-3.45). After stratification analysis according to tumor types, a similarly higher risk was detected in patients with glioma (OR=2.56, 95% CI, 1.25-5.21). When gene-gene interactions were examined, carriers at both loci rs2243115 TG/GG and rs3212227 AC/CC had a 2.62-fold increased risk of glioma compared with those with rs2243115 TT and rs3212227 AC/CC genotypes (OR=2.62, 95% CI, 1.05-6.50). This study provides evidence that IL-12A rs2243115 may be associated with the risk of brain tumor. Additionally, gene-gene interactions of IL-12A rs2243115 and IL-12B rs3212227 may contribute to brain tumor susceptibility.

Objective: Glutathione S-transferases (GSTs) are important enzymes that are involved in detoxification of environmental carcinogens. Molecular epidemiological studies have been conducted to investigate the association between GSTM1 and GSTT1 homozygous deletion polymorphisms and brain tumours but results have been conflicting. The aim of this study was to clarify this problem using a meta-analysis. Methods: A total of 9 records were identified by searching the PubMed and Embase databases. Fixed- and random-effects models were performed to estimate the pooled odds ratios. Results: No significant association was found between the GSTM1 and GSTT1 homozygous deletion polymorphisms and risk of brain tumours, including glioma and meningioma. Similar negative results were also observed in both population-based and hospital-based studies. Conclusion: These findings indicate that the GSTM1 and GSTT1 polymorphisms may not be related to the development of brain tumours.

Objectives Angiotensin I-converting enzyme (ACE) plays crucial roles not only in the regulation of circulatory homeostasis but also in the pathology of carcinomas. An insertion–deletion (I/D) polymorphism in intron 16 of ACE gene was identified to be functional. We aimed to investigate the association between ACE I/D polymorphism and risk of colorectal cancer (CRC). Design and methods Using genomic DNA from 241 CRC patients and 299 control subjects, we genotyped the ACE I/D polymorphism using a polymerase chain reaction analysis. Results We found that patients carrying the D allele were associated with an increased risk of developing poorly differentiated cancer and metastasis compared with those carrying the I allele (OR = 1.54, 95%CI, 1.04–2.28; OR = 1.56, 95%CI, 1.08–2.26, respectively), although no significant association was observed between cases and controls in overall analysis. Conclusions These findings indicate that the ACE I/D polymorphism is likely to play a role in CRC progression.

Let-7 family plays a key role in the progression of atherosclerosis and intracranial aneurysm (IA). We hypothesized that rs10877887 and rs13293512 polymorphisms in the promoters of let-7 family may be associated with the susceptibility of IA. We genotyped the 2 single nucleotide polymorphisms (SNPs) in 305 patients with IA and 401 healthy controls. The rs10877887 was analyzed using a polymerase chain reaction-restriction fragment length polymorphism assay, and the rs13293512 was analyzed using a TaqMan SNP genotyping method. The relative expression of let-7 family was measured in plasma of cases and controls using real-time PCR. We found that the rs13293512CT genotype was associated with a significantly increased risk of developing IA in a heterozygote comparison (adjusted OR = 1.43, 95% CI, 1.00–2.05, P = 0.048) and dominant comparison (adjusted OR = 1.44, 95% CI, 1.02–2.03, P = 0.04). Combined analysis showed that the rs10877887TT and rs13293512CC/CT genotypes had a significantly increased risk of IA (OR = 1.67, 95% CI, 1.04–2.68, P = 0.03). Moreover, the levels of let-7a, let-7d, and let-7f were downregulated in IA patients, and patients with the rs13293512CC/CT genotypes had a lower level of let-7a than those with rs13293512TT genotype (P = 0.03). These findings indicate that the rs13293512CC/CT is a risk factor for the development of IA, possibly because of the genotypes resulting in a lower level of let-7a.

Vascular inflammation has been shown to be involved in the pathogenesis of intracranial aneurysms (IA). MiRNAs are key molecules that participate in the regulation of many important biological processes including inflammation. Studies on the hsa-miR-146a rs2910164 polymorphism and its association with different inflammatory related diseases have engendered inconsistent results, and until now, there have been no reports on the association between this polymorphism and the susceptibility to IA. In this study, we aimed to investigate whether the rs2910164 polymorphism is involved in the process of IA. We genotyped 164 patients with IA and 478 healthy controls using a polymerase chain reaction-restriction fragment length polymorphism assay. All subjects were Chinese. The distributions of rs2910164 genotypes and alleles between patients with IA and healthy controls were similar [CG vs CC: odds ratio (OR) = 0.701, 95% confidence interval (CI) = 0.456-1.080; GG vs CC: OR = 0.920, 95%CI = 0.524-1.617; G vs C: OR = 0.939, 95%CI = 0.731-1.208, respectively]. No association was found between the hsa-miR-146a rs2910164 polymorphism and the risk of IA in the analyzed population.

Intraspinal schwannoma is a rare neoplasm in pediatric patients; cellular schwannoma is an unusual histological subtype of schwannoma. A six-month-old infant with an epidural dumbbell cellular schwannoma presented with progressive weakness of his arms and legs. A spinal MRI revealed an epidural mass from C5 to T4, and a complete surgical resection was achieved after laminotomy and facetectomy. The patient experienced a gradual neurological improvement and was still healthy without recurrence at the latest follow-up. The diagnosis of cellular schwannoma was confirmed on immunohistological examination.

The ratio between FABP5 and CRABPII determines cellular response to physiological level of retinoic acid; tumor cells undergo proliferation with high level of FABP5 and apoptosis with high level of CRABPII. We intended to study FABP5 and CRABPII expression in craniopharyngiomas, to establish craniopharyngioma cell model using explants method, and to study the effect of pharmacological dose of retinoic acid on craniopharyngioma cells. Expression of FABP5 and CRABPII in craniopharyngioma tissue from 20 patients was studied using immunohistochemistry. Primary craniopharyngioma cell cultures were established using tissue explants method. Craniopharyngioma cells were treated using various concentrations of all-trans retinoic acid, and cell growth curve, apoptosis, expression of FABP5, CRABPII and NF-κB were assayed in different groups. FABP5/CRABPII ratio was significantly higher in adamatinomatous group than that in papillary group. Cell cultures were established in 19 cases (95 %). Pharmacological level retinoic acid inhibited cell growth and induced cellular apoptosis in dose dependent manner, and apoptosis rate cells treated with 30 μM retinoic acid for 24 h was 43 %. Also, retinoic acid increased CRABPII, and decreased FABP5 and NF-κB expression in craniopharyngioma cells. High FABP5/CRABPII ratio is observed in adamatinomatous craniopharyngioma. Retinoic acid at pharmacological level induced craniopharyngioma cell apoptosis via increasing FABP5/CRABPII ratio and inhibiting NF-κB signaling pathway. Our study demonstrated that all-trans retinoic acid might be a candidate for craniopharyngioma adjuvant chemotherapy in future.

Several lines of evidence indicate that inflammatory processes play a key role in the happening and development of intracranial aneurysm (IA). Recently, polymorphisms in theTP53gene were shown to be associated with inflammation and inflammatory disease. The aim of this study was to investigate the interactions ofmiR-34b/candTP53Arg72-Pro polymorphisms on the risk of IA in a Chinese population. A total of 590 individuals (including 164 patients with IA and 426 controls) were involved in this study. The polymorphisms (i.e.,miR-34b/crs4938723 andTP53Arg72-Pro) were genotyped by polymerase chain reaction-restriction fragment length polymorphism assay and DNA sequencing. We found that the CC genotype ofmiR-34b/crs4938723 was significantly associated with a decreased risk of IA compared with the TT genotype. Moreover, a significant gene interaction of the carriers with the combined genotypes ofmiR-34b/crs4938723CC andTP53Arg72Pro CG/CC/GG had a decreased risk of IA, compared with those carryingmiR-34b/crs4938723CT/TT+TP53Arg72Pro GG/CG/CC combined genotypes. These findings suggest that themiR-34b/crs4938723CC andTP53Arg72-Pro polymorphisms may be involved in the susceptibility to IA.

Several lines of evidence indicate that inflammatory processes play pivotal role in the development of intracranial aneurysm (IA). Recently, polymorphisms in the interleukin-12 (IL-12) gene were shown to be associated with immune-mediated inflammatory disease. The aim of this study was to investigate the interactions of IL-12A and IL-12B polymorphisms on the risk of IA in a Chinese population. A total of 422 individuals (including 164 patients with IA and 258 controls) were involved in the study. The polymorphisms (i.e., rs2243115 and rs568408 in IL-12A and rs3212227 in IL-12B) were genotyped by polymerase chain reaction–restriction fragment length polymorphism assay and DNA sequencing. We found an association of the AC/CC genotypes and C allele of IL-12B rs3212227 with an increased risk of IA, compared with the AA genotype and A allele (AC/CC vs. AA: OR = 2.09, 95 % CI: 1.29–3.38; C vs. A: OR = 1.45, 95 % CI: 1.10–1.91). Moreover, a significant gene interaction of IL-12A and IL-12B was evident on the risk of IA, and subjects carrying variant genotypes of IL-12B rs3212227 had an increased risk of IA. In the stratified analysis by gender, the IL-12B rs3212227 AC/CC genotypes had an increased risk of IA compared with the AA genotype in male patients (AC/CC vs. AA: OR = 4.63, 95 % CI: 1.92–11.16). These findings suggest that the IL-12A and IL-12B independently and jointly be involved in the susceptibility to IA.

Growing evidence has shown that nuclear factor-κB (NF-κB) plays a key role in the initiation and progression of systemic lupus erythematosus (SLE) pathogenesis. A common polymorphism (-94 insertion/deletion ATTG, rs28362491) in the promoter region of NFKB1 gene was identified as functional. The -94del ATTG allele exhibited loss of binding to nuclear proteins and resulted in reduced promoter activity. We investigated the association between NFKB1 -94 insertion/deletion ATTG polymorphism and risk of SLE. A total of 224 SLE patients and 256 control subjects were genotyped using a polymerase chain reaction-polyacrylamide gel electrophoresis strategy and DNA sequencing. We found that the ATTG(1)/ATTG(2) genotype was associated with a significantly decreased risk of SLE (odds ratio=0.52, 95% confidence interval: 0.32-0.87, p=0.012). This finding indicates that the -94 insertion/deletion ATTG polymorphism may play pivotal roles in the development of SLE in the Chinese population. Further studies with larger sample size are warranted to confirm this finding, especially in different populations.

Interleukin-6 (IL-6), identified as a pleiotropic inflammatory cytokine, plays important roles in the acute inflammatory response and in the modulation of the neuroimmune response. To date, large amounts of epidemiological studies have been performed to investigate the association between the IL-6 −174G/C polymorphism and Alzheimer's disease (AD) risk. Inconclusive results, however, have been reported. We aimed to assess the effect of the IL-6 −174G/C polymorphism on AD susceptibility with the use of a meta-analysis. 14 studies involving 3769 cases of AD and 9431 control subjects were identified by a search of Pubmed, Embase and ISI Web of Science databases. Crude odds ratios (ORs) with 95% confidence intervals (CIs) for the IL-6 −174G/C polymorphism and AD risk were computed using fixed- or random-effects model when appropriate. Obvious heterogeneity among studies was detected, and a borderline statistically significant association was observed between the IL-6 −174G/C polymorphism and AD risk in Caucasians (GG vs. CC: OR = 1.35, 95%CI, 1.06–1.72; GG/GC vs. CC: OR = 1.27, 95%CI, 1.05–1.53, respectively). After exclusion of one study, the heterogeneity disappeared and no significant association was observed between the polymorphism and AD risk. These findings indicate that the IL-6 −174G/C polymorphism may not be an independent risk factor for the development of AD.