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BACKGROUND We assessed the potential association between monocyte chemotactic protein 1 (MCP-1) variants (rs1024611 and rs3760396) and age-related macular degeneration (AMD) susceptibility among Chinese Han people. MATERIAL AND METHODS Our research included 129 AMD patients and 131 healthy controls. Genotyping for MCP-1 variants was performed in the 2 groups, and genotype and allele distributions were checked between groups by χ² analysis. Odds ratio (OR) and 95% confidence interval (CI) reflected the potential association between MCP-1 variants and AMD risk. The linkage disequilibrium of polymorphisms was detected using Haploview. RESULTS Significant differences in rs1024611 genotype distributions were detected between the 2 groups, and homozygous carriers with GG genotype had higher AMD incidence (P less then 0.05, OR=2.650, 95% CI=1.127-6.231). The rs1024611 G allele frequency was significantly higher in AMD patients, suggesting that the G allele promotes AMD onset (P less then 0.05, OR=1.447, 95% CI=1.013-2.068). Strong linkage disequilibrium was found between rs1024611 and rs3760396, and haplotype Ars1024611-Crs3760396 was significantly associated with decreased risk of AMD (P=0.001, OR=0.502, 95% CI=0.335-0.752). CONCLUSIONS MCP-1 rs1024611 variant appears to contribute to risk of AMD in the Chinese Han population, and the interaction of MCP-1 polymorphisms may also influence individual susceptibility to AMD.Background The introduction of intracranial air (ICA) during deep brain stimulation (DBS) surgery is thought to have a negative influence on targeting and clinical outcomes. Objective To investigate ICA volumes following surgery and other patient-specific factors as potential variables influencing translocation of the DBS electrode and proximal lead bowing. Methods High-resolution postoperative computed tomography scans (≤1.0 mm resolution in all directions) within 24 h following DBS surgery and 4-6 weeks of follow-up were acquired. A total of 50 DBS leads in 33 patients were available for analysis. DBS leads included Abbott/St. selleck kinase inhibitor Jude Medical InfinityTM, Boston Scientific VerciseTM, and Medtronic 3389TM. Results Both ICA volume and anatomical target were significantly associated with measures of DBS electrode translocation. ICA volume and DBS lead model were found to be significant predictors of proximal lead bowing. Measures of proximal lead bowing and translocation along the electrode trajectory for the Medtronic 3389TM DBS lead were significantly larger than measures for the Abbott/St. Jude Medical InfinityTM and Boston Scientific VerciseTM DBS leads. Conclusion The association between ICA volume and translocation of the DBS electrode is small in magnitude and not clinically relevant for DBS cases within a normal range of postoperative subdural air volumes. Differences in proximal lead bowing observed between DBS leads may reflect hardware engineering subtleties in the construction of DBS lead models.Background and objectives Identification of the pathogenic mutations underlying hereditary hearing loss (HL) is difficult, since causative mutations in 60 different genes have so far been reported. Methods A comprehensive clinical and pedigree examination was performed on a multiplex family suffering from HL. Direct sequencing of GJB2 and genetic linkage analysis of 5 other most common recessive nonsyndromic HL (ARNSHL) genes were accomplished. Next-generation sequencing (NGS) was utilized to reveal the possible genetic etiology of the disease. Results NGS results showed a novel rare variant c.2977G>A (p.Asp993Asn) in the CDH23 gene. The variant, which is a missense in exon 26 of the CDH23 gene, fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guideline. Electroretinography rejects the Usher syndrome in the family. Conclusions The present study shows that an accurate molecular diagnosis based on NGS technologies largely improves molecular-diagnostic outcome and thus genetic counseling, and helps to clarify the recurrence risk in deaf families.Background The microTargetingTM MicrotableTM Platform is a novel stereotactic system that can be more rapidly fabricated than currently available 3D-printed alternatives. We present the first case series of patients who underwent deep brain stimulation (DBS) surgery guided by this platform and demonstrate its in vivo accuracy. Methods Ten patients underwent DBS at a single institution by the senior author and 15 leads were placed. The mean age was 69.1 years; four were female. The ventralis intermedius nucleus was targeted for patients with essential tremor and the subthalamic nucleus was targeted for patients with Parkinson’s disease. Results Nine DBS leads in 6 patients were appropriately imaged to enable measurement of accuracy. The mean Euclidean electrode placement error (EPE) was 0.97 ± 0.37 mm, and the mean radial error was 0.80 ± 0.41 mm (n = 9). In the subset of CT scans performed greater than 1 month postoperatively (n = 3), the mean Euclidean EPE was 0.75 ± 0.17 mm and the mean radial error was 0.69 ± 0.17 mm. There were no surgical complications. Conclusion The MicrotableTM platform is capable of submillimetric accuracy in patients undergoing stereotactic surgery. It has achieved clinical efficacy in our patients without surgical complications and has demonstrated the potential for superior accuracy compared to both traditional stereotactic frames and other common frameless systems.Background/aim Hydrogen sulfide (H2S) has been found to act as a physiological intercellular messenger to regulate cell survival. In this study, we evaluated whether H2S could promote cell proliferation and melanin synthesis in human epidermal melanocytes (HEMs). Methods Primary HEMs were cocultured with sodium hydrosulfide (NaHS, the most widely used H2S donor) or endogenously overexpressed with cystathionine-γ-lyase (CSE) gene, which is the most predominant H2S-producing enzyme. Then, cell viability, intracellular melanin content, tyrosinase (TYR) activity, and expression of microphthalmia-associated transcription factor (MITF), TYR, together with TYR-related protein 1 (TRP-1) in both transcript and protein levels, were detected. Results We first confirmed that NaHS (10-100 μm) increased cell viability, intracellular melanin content, and TYR activity in a dose-dependent manner. Then, we found that endogenous H2S production also promoted cell proliferation, intracellular melanin content, and TYR activity. In addition, we observed the mRNA and protein expression of MITF, TYR, and TRP-1 was significantly up-regulated after NaHS treatment and CSE gene transfection.