Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight.

In this study, the association between maternal age at menarche (AAM)-related polymorphisms and offspring birth weight (BW) was studied. The work was performed on a sample of 716 pregnant women and their newborns. All pregnant women underwent genotyping of 50 SNPs of AAM candidate genes. Regression methods (linear and Model-Based Multifactor Dimensionality Reduction (MB-MDR)) with permutation procedures (the indicator pperm was calculated) were used to identify the correlation between SNPs and newborn weight (transformed BW values were analyzed) and in silico bioinformatic examination was applied to assess the intended functionality of BW-associated loci. Four AAM-related genetic variants were BW-associated including genes such as POMC (rs7589318) (ßadditive = 0.202/pperm = 0.015), KDM3B (rs757647) (ßrecessive = 0.323/pperm = 0.005), INHBA (rs1079866) (ßadditive = 0.110/pperm = 0.014) and NKX2-1 (rs999460) (ßrecessive = -0.176/pperm = 0.015). Ten BW-significant models of interSNPs interactions (pperm ≤ 0.001) were identified for 20 polymorphisms. SNPs rs7538038 KISS1, rs713586 RBJ, rs12324955 FTO and rs713586 RBJ-rs12324955 FTO two-locus interaction were included in the largest number of BW-associated models (30% models each). BW-associated AAM-linked 22 SNPs and 350 proxy loci were functionally related to 49 genes relevant to pathways such as the hormone biosynthesis/process and female/male gonad development. In conclusion, maternal AMM-related genes polymorphism is associated with the offspring BW.

Burr hole microsurgical subtemporal selective amygdalohippocampectomy.

INTRODUCTION: At present, selective amygdalohippocampectomy (SAH) has become popular in the treatment of drug-resistant mesial temporal lobe epilepsy (TLE). However, there is still an ongoing discussion about the advantages and disadvantages of this approach. METHODS: The study included a consecutive series of 43 adult patients with drug-resistant TLE, involving 24 women and 19 men (1.8/1). Surgeries were performed at the Burdenko Neurosurgery Center from 2016 to 2019. To perform subtemporal SAH through the burr hole with the diameter of 14 mm, we used two types of approaches: preauricular, 25 cases, and supra-auricular, 18 cases. The follow-up ranged from 36 to 78 months (median 59 months). One patient died 16 months after surgery (accident). RESULTS: By the third year after surgery, Engel I outcome was achieved in 80.9% (34 cases) of cases and Engel II in 4 (9.5%) and Engel III and Engel IV in 4 (9.6%) cases. Among the patients with Engel I outcomes, anticonvulsant therapy was completed in 15 (44.1%), and doses were reduced in 17 (50%) cases. Verbal and delayed verbal memory decreased after surgery in 38.5% and 46.1%, respectively. Verbal memory was mainly affected by preauricular approach in comparison with supra-auricular (p = 0.041). In 15 (51.7%) cases, minimal visual field defects were detected in the upper quadrant. At the same time, visual field defects did not extend into the lower quadrant and inside the 20° of the upper affected quadrant in any case. CONCLUSIONS: Burr hole microsurgical subtemporal SAH is an effective surgical procedure for drug-resistant TLE. It involves minimal risks of loss of visual field within the 20° of the upper quadrant. Supra-auricular approach, compared to preauricular, results in a reduction in the incidence of upper quadrant hemianopia and is associated with a lower risk of verbal memory impairment.

The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia.

PURPOSE: To replicate the finding of the association of five CDKN2B-AS1 gene polymorphisms (rs7865618, rs1063192, rs944800, rs2157719, and rs4977756) with primary open-angle glaucoma (POAG) and to analyze them for possible association with pseudoexfoliation glaucoma (PXFG) in a Caucasian population of Central Russia. METHODS: A total of 932 participants of Russian ethnicity (self-reported), including 328 patients with PXFG, 208 patients with POAG (high-tension glaucoma), and 396 controls, were enrolled in the study. The SNPs were analyzed for possible associations using logistic regression. RESULTS: Several haplotypes based on the studied SNPs were associated with POAG (three haplotypes) and PXFG (six haplotypes). Haplotype AAAGG of loci rs1063192-rs7865618-rs2157719-rs944800-rs4977756 conferred the highest risk for both POAG (OR = 3.99, рperm = 0.001) and PXFG (OR = 2.84, рperm = 0.001). CONCLUSIONS: The CDKN2B-AS1 gene was associated with an increased risk of both POAG and PXFG in Caucasians of Central Russia. The gene may be related to the development of various types of glaucoma.

LOXL1 gene polymorphism candidates for exfoliation glaucoma are also associated with a risk for primary open-angle glaucoma in a Caucasian population from central Russia.

Purpose: This study was aimed to replicate the previously reported associations of the three LOXL1 gene polymorphisms with exfoliation glaucoma (XFG) and to analyze these genetic variants for their possible contribution to primary open-angle glaucoma (POAG) in Caucasians from central Russia. Methods: In total, 932 participants were recruited for the study, including 328 patients with XFG, 208 patients with POAG, and 396 controls. The participants were of Russian ethnicity (self-reported) and born in Central Russia. They were genotyped at three single nucleotide polymorphisms (SNPs) of the LOXL1 gene (rs2165241, rs4886776, and rs893818). The association was analyzed using logistic regression. Results: Allele C of rs2165241 was associated with a decreased risk of XFG (odds ratio [OR] =0.27-0.45, pperm ≤5*10-6) and POAG (OR=0.35-0.47, рperm≤0.001), and allele A of rs4886776 and rs893818 were associated with a lower risk of XFG (OR=0.53-0.57, рperm≤0.001). Haplotype TGG of loci rs2165241-rs4886776-rs893818 was associated with an elevated risk of XFG (OR=2.23, рperm=0.001) and POAG (OR=2.01, рperm=0.001), haplotype CGG was also associated with a decreased risk of XFG (OR=0.45, рperm=0.001) and POAG (OR=0.35, рperm=0.001). Haplotype CAA was associated with a decreased risk of XFG only (OR=0.50, рperm=0.001). Conclusions: Polymorphisms rs2165241, rs4886776, and rs893818 of the LOXL1 gene showed association with XFG and POAG in a Caucasian sample from central Russia.

Dataset of allele, genotype and haplotype frequencies of five polymorphisms CDKN2B-AS1 gene in Russian patients with primary open-angle glaucoma.

Data on the allele, genotype and haplotype frequencies of the five single nucleotide polymorphisms (SNPs) such as rs1063192, rs7865618, rs2157719, rs944800 and rs4977756 of the CDKN2B-AS gene in Russian patients with primary open-angle glaucoma (POAG) are provided. These SNPs are found to be associated with the risk of POAG by genome-wide association studies (GWAS). The frequencies of alleles, genotypes and haplotypes of CDKN2B-AS gene were present separately for entire group of patients, females and males, and may be used as reference data of Russian population.

Burr Hole Microsurgery for Intracranial Tumors and Mesial Temporal Lobe Epilepsy: Results of 200 Consecutive Operations.

OBJECTIVE: Recently, in modern neurosurgery, a tendency toward low-traumatic surgical approaches has become clear. To provide a minimal degree of injury to the brain tissue, we have offered microsurgical approaches through a burr hole. METHODS: From February 2016 to November 2017, 200 microsurgical interventions through a single burr hole with a diameter of 14 mm were performed. The age of the patients varied from 16 to 79 years. The female/male ratio was 1.6:1. In 176 cases, the procedure was performed on an intracranial mass lesion in various locations. In the remaining 24 cases, selective amygdalohippocampectomy was performed in patients with hippocampal sclerosis. RESULTS: Various surgical approaches were used, including transcortical in 81 (40.5%), retrosigmoid in 38 (19%), subtemporal in 32 (16%), infratentorial supracerebellar in 25 (12.5%), interhemispheric in 17 (8.5%), telovelar in 5 (2.5%), and eyebrow in 2. The extent of lesion removal was evaluated in 167 patients for whom maximal tumor resection had been planned before surgery. Gross total and near total removal was achieved in 145 patients (87%), subtotal in 15 patients (9%), and partial in 7 patients (4%). The operative time ranged from 35 to 300 minutes (median, 80). The interval to extubation postoperatively varied from 5 minutes to 5 days (median, 70 minutes). Of the 200 patients, 195 (97.5%) were mobilized during the first 3 postoperative days. CONCLUSIONS: Burr hole microsurgery provides the ability to perform successful surgery on patients with the most diverse intracranial pathological features through a smaller opening than that used for keyhole surgery.