scholarly journals Advanced Oxidation Protein Products and the CLOCK 3111T/C Single Nucleotide Polymorphism in Menopausal Women with Insomnia

2020 ◽  
Vol 10 (4) ◽  
pp. 352-356
Author(s):  
Natalya V. Semenova Natalya V. Semenova ◽  
Irina Madaeva ◽  
Anastasiya Brichagina ◽  
Olga Nikitina ◽  
Sergey Kolesnikov ◽  
...  
Keyword(s):  
Pittsburgh Sleep Quality Index ◽  
Advanced Oxidation ◽  
Severity Index ◽  
Nucleotide Polymorphism ◽  
Control Groups ◽  
Advanced Oxidation Protein Products ◽  
Single Nucleotide ◽  
Menopausal Women ◽  
And Control ◽  
Insomnia Severity

Background: The aim of this study was to assess the dependence of advanced oxidation protein products (AOPPs) levels on the genotype of the CLOCK 3111T/C SNP in Caucasian menopausal women with and without insomnia. Methods and Results: The study involved 105 Caucasian menopausal women volunteers aged between 45 and 60 years. The Pittsburgh Sleep Quality Index, PSQI, Insomnia Severity Index (ISI), and Epworth Sleepiness Scale (ESS) were employed. The study of the CLOCK 3111T/C SNP (rs1801260) was performed by PCR. The blood level of advanced oxidation protein products (AOPPs) was detected by IEMA. Based on the results of a clinical-anamnestic examination, the women were divided into two groups: the main (with insomnia) and the control (without insomnia). Given the small number of women carrying the CC genotype of the CLOCK 3111T/C SNP, the СС carriers and TC carriers were combined into one group as the carriers of the minor 3111C allele. There were no statistically significant differences in the AOPP levels between carriers of different genotypes (TT genotype and TC+CC genotypes) in controls and patients. A comparative analysis of AOPP levels in the women of the main and control groups showed higher AOPP levels in women with insomnia carrying the TT genotype than in the control of the same genotype (P=0.013). Conclusion: Insomnia in menopausal women is associated with increased protein oxidation only in carriers of the TT genotype of the CLOCK 3111T/C SNP.

scholarly journals Levels of Advanced Oxidation Protein Products in Blood Plasma of Peri- and Postmenopausal Women with Insomnia

2021 ◽  
Vol 6 (1) ◽  
pp. 69-74
Author(s):  
N. V. Semenova ◽  
I. M. Madaeva ◽  
A. S. Brichagina ◽  
L. I. Kolesnikova
Keyword(s):  
Postmenopausal Women ◽  
Advanced Oxidation ◽  
Severity Index ◽  
Control Groups ◽  
Advanced Oxidation Protein Products ◽  
Menopausal Women ◽  
Perimenopausal Women ◽  
Sleep Questionnaires ◽  
Insomnia Severity ◽  
Immunoenzymatic Assay

Background. Insomnia occurs in more than half of menopausal women. These disorders can contribute to a change in the prooxidant-antioxidant balance, causing the damage to structural cellular elements. Currently, there is a lack of research on this issue.Aim. To carry out a comparative analysis of the level of advanced oxidation protein products in in periand postmenopausal women with insomnia.Materials and methods. The study included peri(n = 30) and postmenopausal (n = 60) women, who were divided into 2 groups (control and main groups) in each menopausal phase after being questioned using special sleep questionnaires: Insomnia Severity Index; Epworth Sleepiness Scale; Munich Chronotype Questionnaire. The advanced oxidation protein products (AOPP) levels was determined by immunoenzymatic assay using ImmunDiagnostik (German) kits on a BioTek EL×808 (USA) analyzer. Statistical analysis was performed using Mann – Whitney test.Results. Comparative analysis of the AOPP levels in control groups, depending on the menopausal periods, showed an increase in their levels in the postmenopausal period as compared to perimenopause (p < 0.05). When comparing the AOPP levels between the control and the main group in different menopausal periods, statistically significant differences were revealed only in the perimenopausal period towards a higher content in women with insomnia (p < 0.05). The presence of insomnia in postmenopausal women is accompanied by a higher AOPP levels as compared to the perimenopausal women (p < 0.05).Conclusion. The obtained results indicate the association between insomnia and oxidative proteins modification only in the perimenopausal period.

scholarly journals Genotyping analysis of the Pax9 Gene in patients with maxillary canine impaction

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 254 ◽  
Author(s):  
Evy Eida Vitria ◽  
Iwan Tofani ◽  
Lindawati Kusdhany ◽  
Endang Winiati Bachtiar
Keyword(s):  
Inclusion Criteria ◽  
Nucleotide Polymorphism ◽  
Chromosome 14 ◽  
Control Groups ◽  
Maxillary Canine ◽  
Single Nucleotide ◽  
Ncbi Dbsnp ◽  
Polymerase Chain ◽  
And Control ◽  
The Relationship

Background: Paired-box gene 9 (PAX9) mutation is potentially associated with impaction in some patient populations. Here, we analyzed the relationship between PAX9 polymorphism and the occurrence of maxillary canine impaction. Methods: Patients with and without maxillary canine impaction were selected based on specific inclusion criteria, and samples of genomic DNA were obtained from a buccal mucosa swab. DNA was amplified by polymerase chain reaction and sequenced for further bioinformatics analysis to identify single nucleotide polymorphism (SNP) genotypes. Genotype and allele counting was performed in both case and control groups prior to conducting statistical analysis. Results: Four SNPs were identified in patients with maxillary canine impaction, with relative confidence determined based on chromatogram-peak assessment. All SNPs were located in exon 3 of PAX9 and in the region sequenced by the primer pair −197Fex3 and +28Rex3. Three of the SNPs (rs375436662, rs12881240, and rs4904210) were reported previously and are annotated in NCBI (dbSNP version 150), whereas another SNP mapped to chromosome 14 has not been reported. Patients with a CC genotype at SNP 3 [odds ratio (OR): 2.61 vs. TT; 1.28 vs. CT] and a CC genotype at SNP 4 [OR: 0.71 vs. GG; 0.79 vs. CG] were more likely to have maxillary canine impaction. Conclusions: These results demonstrated that the presence of SNPs 3 and 4 is associated with increased likelihood of suffering from maxillary canine impaction.

scholarly journals Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism

2012 ◽  
Vol 64 (4) ◽  
pp. 853-859
Author(s):  
V. De Marco ◽  
L.R. Carvalho ◽  
A.E.C. Billerbeck ◽  
B.B. Mendonça
Keyword(s):  
Genomic Dna ◽  
Terminal Differentiation ◽  
Germline Mutations ◽  
Coding Region ◽  
Nucleotide Polymorphism ◽  
Control Groups ◽  
Single Nucleotide ◽  
Automatic Sequence ◽  
High Incidence ◽  
And Control

There is a high incidence of pituitary-dependent hyperadrenocorticism (PDH) in Poodle dogs, with family members being affected by the disease, suggesting a genetic involvement. Tpit is an obligate transcription factor for the expression of pro-opiomelanocortingene and for corticotroph terminal differentiation. The aim of the present study was to screen the Tpit gene for germline mutations in Poodles with PDH. Fifty Poodle dogs (33 female, 8.71±2.8 years) with PDH and 50 healthy Poodle dogs (32 females, 9.4241 2.8 years) were studied. Genomic DNA was isolated from peripheral blood, amplified by PCR and submitted to automatic sequence. No mutation in the coding region of Tpit was found, whereas the new single nucleotide polymorphism p.S343G, in heterozygous state, was found in the same frequency in both PDH and control groups. We concluded that Tpit gain-of-function mutations are not involved in the etiology of PDH in Poodle dogs.

Inhibition of IL-13: A New Pathway for Atopic Dermatitis

2020 ◽  
pp. 120347542098255
Author(s):  
Kayadri Ratnarajah ◽  
Michelle Le ◽  
Anastasiya Muntyanu ◽  
Steve Mathieu ◽  
Simon Nigen ◽  
...  
Keyword(s):  
Monoclonal Antibody ◽  
Atopic Dermatitis ◽  
Severity Index ◽  
Severe Atopic Dermatitis ◽  
Treatment Alternative ◽  
Control Groups ◽  
Rapid Improvement ◽  
Common Receptor ◽  
The Common ◽  
And Control

Dupilumab, a monoclonal antibody against the common receptor of interleukin (IL)-4 and IL-13, was the first biologic therapy approved in Canada for treatment of moderate-to-severe atopic dermatitis (AD). While it is considered safe and effective, dupilumab is not universally effective and 8%-38% of patients develop conjunctivitis, while some patients develop head and neck dermatitis. Thus, new therapeutic options are warranted. While both IL-4 and IL-13 play important roles in the pathogenesis of AD, it has been recently demonstrated that IL-13 is the primary upregulated cytokine in AD skin biopsy samples. A placebo-controlled phase 2b clinical trial evaluating the efficacy and safety of lebrikizumab, an IL-13 inhibitor, in AD demonstrated that, at 16 weeks, Eczema Area and Severity Index (EASI) 75 and Investigator’s Global Assessment (IGA) 0/1 were achieved by 60.6% and 44.6% of patients taking lebrikizumab at its highest dose (vs 24.3% and 15.3% of patients taking placebo, respectively). Moreover, treatment with lebrikizumab was associated with rapid improvement of pruritus and low rates of conjunctivitis (1.4%-3.8%). Another IL-13 monoclonal antibody, tralokinumab, was evaluated for safety and efficacy in moderate-to-severe AD. By week 12, among adults receiving 300 mg tralokinumab, 42.5% achieved EASI-75 and 26.7% achieved IGA 0/1 score (vs 15.5% and 11.8% in the placebo group, respectively). Both lebrikizumab and tralokinumab demonstrated acceptable safety profiles in AD (and non-AD) trials with adverse events often being comparable between treatment and control groups. Thus, IL-13 inhibitors may provide a safe and effective treatment alternative for patients with moderate-to-severe AD.

Changes in sleep predict changes in depressive symptoms in depressed subjects receiving vortioxetine: An open-label clinical trial

2019 ◽  
Vol 33 (11) ◽  
pp. 1388-1394 ◽  
Author(s):  
Bing Cao ◽  
Caroline Park ◽  
Joshua D Rosenblat ◽  
Yan Chen ◽  
Michelle Iacobucci ◽  
...  
Keyword(s):  
Major Depressive Disorder ◽  
Depressive Disorder ◽  
Sleep Quality ◽  
Epworth Sleepiness Scale ◽  
Quality Index ◽  
Pittsburgh Sleep Quality Index ◽  
Severity Index ◽  
Major Depressive ◽  
Insomnia Severity Index ◽  
Insomnia Severity

Background Sleep disturbances are frequently reported in patients with major depressive disorder. We aimed to investigate the effects of vortioxetine on sleep quality and association between changes in sleep and treatment response. Methods: This study is a post-hoc analysis of a clinical trial that sought to evaluate the sensitivity to cognitive change of THINC-integrated tool in patients with major depressive disorder. In total, 92 patients (aged 18 to 65) meeting Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for moderate or severe major depressive disorder and 54 healthy controls were included. All patients received open-label vortioxetine (10–20 mg/day, flexibly dosed) for 8 weeks. Herein, the primary outcomes of interest were changes in sleep, as measured by the Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale and Insomnia Severity Index, between weeks 0, 2, and 8. The association between changes in sleep and depressive symptom severity was secondarily assessed. Results: We observed that sleep, as indicated by scores of Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale and Insomnia Severity Index, was significantly poorer in patients with major depressive disorder compared to healthy controls at weeks 0, 2, and 8 ( p < 0.05). Among patients with major depressive disorder, we observed significant improvements on the Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale and Insomnia Severity Index between weeks 0 and 8 ( p < 0.05). We observed a significant association between improvements on the Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, and Insomnia Severity Index and improvement of depressive symptoms. Conclusion: Improvement of depressive symptoms in major depressive disorder patients treated with vortioxetine was associated with significant improvements in sleep. Furthermore, improvements in sleep were predictive of antidepressant response and were linearly correlated with improvement in overall depressive symptom severity.

scholarly journals ADHD and DIRAS Single Nucleotide Polymorphism as an Indicator of Prolonged Concussion Recovery

CommonHealth ◽  
2021 ◽  
Vol 2 (3) ◽  
pp. 94-101
Author(s):  
Taziah Kenney ◽  
Jane McDevitt
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Rare Allele ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Adhd Diagnosis ◽  
Hyperactivity Disorder ◽  
Recovery Times ◽  
Prolonged Recovery ◽  
Concussion Recovery ◽  
And Control

The purpose of this study was to determine the association between the presence of a single nucleotide polymorphism (SNP; rs1412005) within DIRAS2 (i.e., a gene associated with attention-deficit/hyperactivity disorder (ADHD) and prolonged recovery following a sport-related concussion. A case-control study design was implemented, where cases and controls were selected from a cohort of 117 deidentified concussed athletes. Eleven samples from this patient cohort self-reported ADHD diagnosis and were age and sex-matched to 22 participants with no self-reported ADHD diagnoses. The average recovery times were 21.50 + 13.96 days and 15.66 + 8.50 days for the case and control groups, respectively. The authors found that only 13.6% of the individuals without an ADHD diagnosis recovered in > 30 days (p = 0.044). Also, the authors found that 72.7% of the carriers of the T allele (i.e., minor allele) recovered in greater than 30 days (p = 0.213).  Researchers concluded that individuals with ADHD had a higher risk of prolonged concussion recovery lasting greater than 30 days. Also, carrying the rare allele was associated with prolonged recovery, which suggests this SNP could be a potential genetic marker for both prolonged concussion recovery and the presence of ADHD.

scholarly journals THE PROGNOSTIC SIGNIFICANCE OF TET2 SINGLE NUCLEOTIDE POLYMORPHISM IN EGYPTIAN CHRONIC MYELOID LEUKEMIA

2020 ◽  
Vol 12 (1) ◽  
pp. e2020004
Author(s):  
Enas A Dammag ◽  
Nahla A.M. Hamed ◽  
Nabil A El Halawani ◽  
Heba S Kassem ◽  
Mona W Ayad
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Statistical Significance ◽  
Control Group ◽  
Spleen Size ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Prognostic Criteria ◽  
And Control

Background: Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm. The pathogenesis of CML is based on the oncoprotein termed BCR‐ABL1. TET2 initiates DNA demethylation and is frequently mutated in hematological malignancies including CML.(1) The relation between TET2 acquisition and CML transformation and/or imitinab resistance is needed to be investigated. (2) Aim: To evaluate Ten Eleven Translocation 2 gene (TET2) single nucleotide polymorphism (SNP) (rs2454206, rs34402524, rs61744960) in chronic myeloid leukemia (CML) in relation to the disease prognostic criteria. Materials & Method: The study included 84 subjects; 54 CML in chronic phase and 30 healthy subjects as control group matched for age and sex. Routine investigations including CBC, bone marrow aspiration, biochemical investigations and molecular study were performed in CML patients to identify the disease stage. DNA extraction and SNP assay for TET2 gene polymorphism was done using (Thermo-Fisher predesigned SNP, USA) PCR prism 7500. Results: The mean age was 45.98±15.7 yrs in CML patients and   39.3±6.587 yrs in control group (p>0.05). TET2 SNP rs 34402524 was either heterozygous and homozygous in CML (48%,and 46.2%) but was mainly homozygous among control (80%) group (p=0.012). TET2 SNP rs 2454206 cases within CML (65.4%) and control (63.3%) group had wild patterns (p=0.046). TET2 SNP rs 61744960 showed a homozygous pattern among all groups (CML and control) showing no statistical significance (p=0.528). TET2 SNP in CML cases did not alter the prognostic criteria as no statistical significance was noted (p>0.05) yet, it was significantly related to spleen size in rs 34402524 where homozygous group had huger sizes and higher BCR-ABL1 levels 6 months after starting TKIs (p<0.05). Conclusions/Recommendation: TET2 SNP is a common in Egyptian chronic myeloid leukemia. TET2 SNP rs 3442524 was associated with huger spleen size and higher BCR-ABL1 levels after 6 months of starting TKIs suggesting disease progression.

scholarly journals Insomnia Might Influence the Thickness of Choroid, Retinal Nerve Fiber and Inner Plexiform Layer

2020 ◽  
Vol 10 (3) ◽  
pp. 178 ◽  
Author(s):  
Cigdem Sahbaz ◽  
Ahmet Elbay ◽  
Mine Ozcelik ◽  
Hakan Ozdemir
Keyword(s):  
Nerve Fiber ◽  
Pittsburgh Sleep Quality Index ◽  
Plexiform Layer ◽  
Severity Index ◽  
Primary Insomnia ◽  
Inner Plexiform Layer ◽  
Fiber Layer ◽  
Drug Naïve ◽  
Insomnia Severity ◽  
Retinal Nerve Fiber

Sleep may play a fundamental role in retinal regulation and the degree of retinal variables. However, no clinical study has investigated optical coherence tomography (OCT) parameters in patients with primary insomnia. All participants were evaluated with the insomnia severity index (ISI) and the Pittsburgh sleep quality index (PSQI). The retinal nerve fiber layer (RNFL), ganglion cell layer (GC), inner plexiform layer (IPL), macula and choroidal (CH) thickness were compared between 52 drug-naïve patients with primary insomnia and 45 age-gender-BMI-smoke status matched healthy controls (HC). The patients with primary insomnia differed from the HC regarding RNFL-Global (p = 0.024) and RNFL-Nasal inferior (p = 0.010); IPL-Temporal (p < 0.001), IPL-Nasal (p < 0.001); CH-Global (p < 0.001), CH-Temporal (p = 0.004), CH-Nasal (p < 0.001), and CH-Fovea (p = 0.019). ISI correlated with RNFL-Global and RNFL-Nasal inferior. The regression analysis revealed that ISI was the significant predictor for the thickness of RNFL- Nasal inferior (p = 0.020), RNFL-Global (p = 0.031), and CH-Nasal (p = 0.035) in patients with primary insomnia. Sleep disorders are seen commonly in patients with psychiatric, including ocular diseases. Adjusting the effect of insomnia can help to clarify the consistency in findings of OCT.

scholarly journals Variations in MHC-DRB1 exon2 and associations with Brucellosis susceptibility in Chinese Merino sheep

2016 ◽  
Author(s):  
Yue’e Chen ◽  
Wanyun Xu ◽  
Chuangfu Chen ◽  
Hugh T Blair ◽  
Jianfeng Gao
Keyword(s):  
Haplotype Analysis ◽  
Nucleotide Polymorphisms ◽  
Control Groups ◽  
Single Nucleotide ◽  
Merino Sheep ◽  
Pcr Products ◽  
Polymerase Chain ◽  
And Control ◽  
Control Samples ◽  
Online Software

MHC-DRB1 exon2 was amplified by polymerase chain reaction (PCR) from 126 healthy and 67 Brucellosis-infected Chinese Merino sheep. PCR products were analyzed using the SSCP technique, and then cloned to allow sequencing of the different alleles. For each SNP, allelic and genotypic frequencies were compared between case and control samples, in addition the association with Brucellosis susceptibility was determined. Haplotypes and their frequencies were established and analyzed by SHEsis online software. There were forty-one single nucleotide polymorphisms (SNPs) in the 270 bp DNA sequence. The distribution of C>T alleles at locus 109 was significantly different between case and control samples. The linkage disequilibrium (LD) analysis showed that there were nine LD blocks in MHC-DRB1 exon2 and strong LD between SNPs existed in every Block. Haplotype analysis identified nine haplotypes with strong LD, but only Hap8 and Hap9 in case-control groups were significantly different (P<0.05); neither haplotype contained the C>T allele at locus 109. In conclusion, genetic variants of MHC-DRB1 gene exon2 demonstrated associations with Brucellosis susceptibility, indicating that further research is warranted.

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