scholarly journals MUTYHGene Polymorphisms as Risk Factors for Rheumatoid Arthritis

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Yung-Jen Kung ◽  
Kun Shi Tsai ◽  
Chung-Ming Huang ◽  
Hui-Ju Lin ◽  
Ter-Hsin Chen ◽  
...  

Objectives.MUTYH glycosylase involved in DNA repair pathways may be associated with the risk of autoimmune diseases such as rheumatoid arthritis (RA). Therefore, the association between polymorphisms in theMUTYHgene and RA was evaluated.Methods. We recruited 192 RA patients and 192 healthy subjects in Taiwan. The 4MUTYHpolymorphisms (rs3219463, rs3219476, rs3219489, and rs3219493) were detected and haplotype analysis was performed using the Bayesian method. The genotype and allelic frequency distributions of the polymorphisms in both RA patients and healthy patients were compared by the chi-square test.Results. Comparison of the genotype/allele frequencies between individuals with RA and the control groups revealed significant differences in 2MUTYHgene polymorphisms, rs3219463 and rs3219476. After we performed a haplotype-specific analysis, the haplotypes Ht6-GTGC and Ht8-GGCG had lower presenting rates in RA patients than in the control groups. Furthermore, the genotype frequency of rs3219463 G/  was significantly increased among patients with immunoglobulin M rheumatoid factors, whereas that of rs3219476 was not.Conclusion. We demonstrated that the rs3219463 and rs3219476 polymorphisms in RA patients from a Taiwan Chinese population were associated with disease susceptibility. These data indicate that theMUTYHgene may play a role in the progression of RA.

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
María Fernanda Zurita ◽  
Adriana Iglesias ◽  
Emanuel Vanegas ◽  
Adriana Luzuriaga ◽  
Luis Zurita

Objective. The aim of this study is to demonstrate if routine assessment of patient index data 3 has a correlation with disease’s activity as much as disease activity score 28, clinical disease activity index, and simplified disease activity index in Ecuadorian patients with rheumatoid arthritis seen in Unidad de Enfermedades Reumáticas y Autoinmunes [UNERA] from December 2016 to December 2017. Methods. This is a retrospective study in 200 patients that fulfill the American College of Rheumatology 2010 criteria for diagnosis of rheumatoid arthritis. The patients were evaluated from December 2016 to December 2017. Descriptive analyses were carried out, also Pearson correlation was used, and, to give a better clinical significance, a chi-square test was conducted. Whenever assumptions of chi-square test were violated, a Fisher’s exact test was reported. Results. RAPID3 correlated best with DAS28 (r.83, p < 0.001), followed by CDAI (r.80, p < 0.001) and then SDAI (r.77, p < 0.001). Conclusion. RAPID3 is a questionnaire that only takes 10 seconds to calculate and correlates in a significant way with traditional clinical measures that require more time to perform, saving time in busy health facilities.


2020 ◽  
Vol 44 (3) ◽  
pp. 135-141
Author(s):  
Evan Cyrkin ◽  
Aaron Myers ◽  
Jaffer Shariff ◽  
Richard Yoon

Purpose: To evaluate utilization and trends associated with patients who presented with emergencies at a community dental clinic at Columbia University Medical Center, New York, NY. Study design: Data from deidentified dental records of patients aged 0–12 years old who presented as emergencies for oral and dental reasons for 2012, 2013, and 2014 were collected. Variables analyzed included demographic information, oral diagnosis, and current health status. Frequency distributions analysis, chi-square test and analysis of variance (ANOVA) test were performed using Stata 13.0. Results: There were 4,328 dental and oral-related emergencies with a mean age of 6-years-old. Approximately 50% were females, 71% were Hispanic, and 90% had Medicaid managed care. Most emergencies (49%) were caries-related, 41% were considered atraumatic in nature, and approximately 10% were traumatic. About 10% of patients presented with comorbidities and 37% were either first-time patients or patients that presented exclusively for emergencies. Acute tooth pain (45%) caused by dental caries was the most common chief complaint. The trends for emergency presentations showed a significant decrease (p&lt;.001) between years 2012–2014 for caries-related visits and a significant increase (p&lt;.001) between 2012–2013 and 2012–2014 for atraumatic visits. Conclusions: Caries-related dental diagnoses were more common than trauma-related diagnoses. The most common caries-related diagnosis was pulp necrosis for both primary and permanent dentitions while the most common traumarelated diagnosis was subluxation for the primary dentition and enamel-dentin fracture for the permanent dentition.


Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 2911-2911
Author(s):  
Masako Iwanaga ◽  
Shin Chiyoda ◽  
Eisuke Kusaba ◽  
Shimeru Kamihira ◽  

Abstract To evaluate time-trend of HTLV-1 prevalence and the effect of preventative measure against the viral transmission are important in the virus endemic regions. In Nagasaki, Japan, an endemic area of HTLV-1, a routine serological virus screening for blood donors and a prefecture-wide intervention project (the ATL Prevention Program; APP) to prevent milk-borne transmission for the virus carrier mothers have been conducted since 1986 and 1987, respectively. However, the effects of both projects on the virus seroprevalence have not been well evaluated. In this study, we conducted trend analyses of age-specific, birth-year-specific, and period-specific seroprevalence of HTLV-1 for first-time blood donors who donated between January 1999 and December 2006. Among 55668 first-time donors (age at donation; 16–65 years, birth year; 1934–1990), 718 were test positive for HTLV-1, indicating that the overall seroprevalence was1.29% (95%CI, 1.20–1.39). Prevalence was significantly higher in women than men (1.53% vs. 1.13%; OR; 1.36, 95%CI; 1.17–1.57). Seroprevalence increased significantly with increasing age at donation from 0.70% at 16–25 years to 7.34% at over 56 years (Chi-square test, P < 0.0001). The annual prevalence was 1.32 in 1999, 1.31 in 2002, and 1.37 in 2006, indicating that there was no significant secular trend during 1999–2006 (P for trend=0.99). In analyses by age at donation, trends of HTLV-1 prevalence significantly declined among age over 56 years (P for trend=0.02) and age 16–25 years (P for trend=0.0007), whereas in birth-year-specific analyses, there was no apparent change of the prevalence over time, except in birth year 1981–90 group in which the prevalence declined from 1.22% in 1999 to 0.44% in 2006 (P for trend < 0.0001). In analyses for limited birth year from 1985 to 1990, the seroprevalence declined from 0.75% in birth year 1985–86 group, 0.31% in 1987–88 group, to zero% in 1989–90 group (P for trend =0.0002). HTLV-1 seroprevalence was significantly lower among donors born in 1987–90 (after APP) than 1985–86 (before APP). These results indicate that a birth-year-specific analysis for HTLV-1 prevalence may be appropriate to evaluate secular trend since the virus mostly transmit during infancy, and that a prefecture-wide intervention, the refraining from breast-feeding by the virus carrier mothers, contributes a declining HTLV-1 seroprevalence in our region.


2019 ◽  
Vol 5 (1) ◽  
pp. 58
Author(s):  
Usman Seri ◽  
Sudarto Sudarto ◽  
Arif Nur Akhmad

Abstract: The Oxytocin Massage Improved Breastmilk Production on Primipara Postpartum Mother In Singkawang City The challenge in providing exclusive breastfeeding is the complaints of Primipara Postpartum Mother (PPM) who are difcult to give breast milk because of limitation. The various attempts have been made, one of them by doing oxytocin massage is attemps to help breastfeeding production. The Aims of this study is to determine the effectiveness of oxytocin massage toward breastmilk production in the PPM. This study used a quasi experimental with a Case control design. A total of 30 samples were divided to intervention and control groups. This research was conducted for 6 months. The research instrument used the breastfeeding checklist. The data were analyzed by using Chi Square test. The results of Chi Square statistical test between oxytocin massage and breastmilk production obtained signifcant p = 0.025 (<0.05). These results indicate that there was a relationship between oxytocin massage and breastmilk production in the PPM. The OR value was 8 (CI (95%)) which explained that the PPM who performed oxytocin massage had eight times chance of breast milk production faster and smoother than mothers who did not do oxytocin massage. This study recommended to use large number of sample for high quality of research. Abstrak: Pijat Oksitosin Meningkatkan Produksi ASI pada Ibu Pospartum Primipara Di Kota Singkawang. Tantangan dalam pemberian Air Susu Ibu (ASI) eklusif adalah keluhan ibu postpartum primipara yang sukar memberikan ASI karena ASI nya tidak keluar. Pijat Oksitosin merupakan suatu upaya untuk membantu dalam pengeluaran ASI. Penelitian ini bertujuan untuk mengetahui pengaruh pijat oksitosin dalam pengeluaran ASI pada ibu Pospartum primipara. Penelitian ini menggunakan desain kuasi eksperimen dengan rancangan kasus kontrol. Sebanyak 30 sampel yang dibagi dalam kelompok intervensi dan kontrol. Penelitian ini dilakukan selama 6 bulan dengan Instrumen penelitian yang digunakan adalah lembar checklist pengeluaran asi. Data dianalisis dengan menggunakan uji Chi-Square untuk melihat adanya pengaruh antar variabel. Hasil uji statistik Chi-Square antara pijat oksitosin dengan pengeluaran ASI diperoleh nilai sig p= 0,025 (< 0,05). Hasil tersebut menunjukkan bahwa terdapat hubungan antara pijat oksitosin dengan pengeluaran ASI pada ibu pospartum primipara. Nilai Odd Ratio (OR) dalam penelitian ini sebesar 8 (CI (95 %)) yang menjelaskan bahwa ibu pospartum primipara yang melakukan pijat oksitosin berpeluang 8 kali produksi ASI lebih cepat dan lancar dibandingkan dengan ibu yang tidak dilakukan pijat oksitosin. Penelitian selanjutnya diharapkan menggunakan jumlah sampel yang lebih besar untuk kualitas yang lebih baik.


Author(s):  
Meri Nolcheva ◽  
Vladimir Trajkovski

Abstract: Each year more families are confronted with unique challenges related to raising a child with ASD. Parenting stress is a significant aspect of fulfilling the role as a parent, and having a child with ASD greatly influences the experienced stress. The literature review indicates that parenting stress is inversely proportional to family support and coping mechanisms.Appraising the stress level among parents of children with ASD, the coping mechanisms and the level of family support, in comparison with parents of children diagnosed with ID.: A group of parents of children with ASD (N=35) and a second group of children with ID (N=35) completed four question-nnaires: PSI-SF, Brief COPE, FSS and demographic questionnaire. The data was analyzed using t-test for comparison, Chi-square test for comparing frequency distributions and Pearson coefficient for correlation, with: Parenting stress did not differ between the two groups. The coping mechanisms used by the parents of children with ASD showed that increased usage of distraction (: There are no differences in the level of stress, coping mechanisms and the level of support comparing parents of children with ASD and ID.


2021 ◽  
Vol 54 (4) ◽  
pp. 216
Author(s):  
Fadli Jazaldi ◽  
Benny M. Soegiharto ◽  
Astrid Dinda Hutabarat ◽  
Noertami Soedarsono ◽  
Elza Ibrahim Auerkari

Background: Class II malocclusion is one of the main orthodontic issues for patients in seeking treatment. The prevalence of class II malocclusion varies in different populations. Variation in skeletal profile is mainly controlled internally by a regulatory gene. Runt-related transcription factor-2 (Runx2) plays a role in osteoblast differentiation and is highly expressed during development. Purpose: This study aimed to evaluate the relation of regulatory gene variation in the Runx2 promoter with class II malocclusion. Methods: DNA samples were acquired from 95 orthodontic patients in Jakarta, Indonesia, who were divided into two groups: class I skeletal malocclusion (control group) and class II malocclusion. A single nucleotide polymorphism was investigated using the polymerase chain reaction and restriction fragment length polymorphism techniques. The distribution of alleles was assessed using the Hardy-Weinberg test. The relationship between polymorphism and skeletal variation was assessed with the Chi-Square test and logistic regression. Results: The frequency distributions of genotypes and alleles were tested for Hardy-Weinberg equilibrium and found to be slightly deviated. There was an equal distribution of G and T alleles throughout class II and class I skeletal malocclusions and the Chi-Square test showed that this relationship was not significant (p=0.5). Conclusion: Runx2 rs59983488 polymorphism was found in the Indonesian subpopulation; however, an association between Runx2 rs59983488 polymorphism and class II skeletal malocclusion was not found.


2016 ◽  
Vol 6 (1) ◽  
pp. 29 ◽  
Author(s):  
Jannatul Ferdous ◽  
Shirin Akter Begum ◽  
Noor-E- Ferdous ◽  
Qamrun Nahar ◽  
Sayeda Fatema Khatun ◽  
...  

<p><strong>Background:</strong> Cervical cancer is a disease of significant worldwide morbidity and mortality. More than 85% of the disease occurs in developing countries. Bangladesh, like other developing countries faces a burden of the disease. <strong></strong></p><p><strong>ObJec­tive:</strong> To find out the different way of presentation of invasive cervical cancer patients. <strong></strong></p><p><strong>Methods:</strong> This cross-sectional study was carried out in the Gynaecologic Oncology wing of the Department of Obstetrics and Gynaecology of Bang­abandhu Sheikh Mujib Medical University (BSMMU) during 1st January 2007 to 30th April 2008. One hundred and four patients with invasive cervical cancer admitted in hospital were enrolled in the study by purposive sampling. All the infor­mation were collected in a pre-designed structured questionnaire. Data were analyzed using statistical program SPSS version: 17.0. Frequency distributions were used to present the characteristics of the patients. Chi-square test was calcu­lated and the significant level was set at P&lt;0.05. <strong></strong></p><p><strong>Results:</strong> Maximum patients (60.6%) were in stage II. Majority of the patients (61.5%) presented with abnormal bleeding. Exophytic growth was found in the majority of the patients (71.2%). Squamous cell carcinoma was more (92.3%) in the majority of patients and adenocarcinoma was more in younger age group. <strong></strong></p><p><strong>Conclusion:</strong> The status of the patients irJ this study reflects advanced stage of the disease at presentation and the peak incidence was observed in 36-45 years age group.</p>


2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Marcel N. Moyeh ◽  
Dieudonne L. Njimoh ◽  
Marie Solange Evehe ◽  
Innocent M. Ali ◽  
Akindeh M. Nji ◽  
...  

Background. As a result of the spread of parasites resistant to antimalarial drugs, Malaria treatment guidelines in Cameroon evolved from nonartemisinin monotherapy to artemisinin-based combination therapy. The aim of this study was to assess the effect of these therapy changes on the prevalence of molecular markers of resistance from 2003 to 2013 in Mutengene, Cameroon. Methodology. Dry blood samples (collected in 2003–2005 and 2009–2013) were used for parasite DNA extraction. Drug resistance genes were amplified by PCR and hybridized with oligonucleotide probes or subjected to restriction digestion. The prevalence of individual marker polymorphisms and haplotypes was compared in these two study periods using the Chi square test. Results. Alleles conferring resistance to 4-aminoquinolines in the Pfcrt 76T and Pfmdr1 86Y, 184F, and 1246Y genotypes showed a significant reduction of 97.0% to 66.9%, 83.6% to 45.2%, 97.3% to 56.0%, and 3.1% to 0.0%, respectively (P<0.05). No difference was observed in SNPs associated with antifolate drugs resistance 51I, 59R, 108N, or 540E (P>0.05). Haplotype analysis in the Pfmdr1 gene showed a reduction in the YFD from 75.90% to 42.2%, P<0.0001, and an increase in the NYD (2.9% to 30.1%;  P<0.0001). Conclusions. The results indicated a gradual return of the 4-aminoquinoline sensitive genotype while the antifolate resistant genotypes increased to saturation.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1157.2-1158
Author(s):  
G. Ansari ◽  
A. Nandagudi ◽  
A. Bharadwaj

Background:Methotrexate (MTX) is an anchor drug in the treatment of Rheumatoid arthritis. The literature review has shown that subcutaneous (SC) methotrexate has shown better efficacy, less adverse side effects and better compliance in inflammatory arthritis. Our department modified Inflammatory arthritis pathway in 2018 where all patient with moderate or severe disease are switched from oral to SC Methotrexate injection for improved management.Objectives:The aim of our study is to review whether switching of oral methotrexate (PO MTX) to subcutaneous methotrexate (SC MTX) helps to improve disease activity in patients with rheumatoid arthritis and avoids the need to introduce biologic therapy.Methods:We conducted a retrospective audit of patients with rheumatoid arthritis seen between January 2018 to January 2020 recording their age, gender, diagnosis, date of MTX switch and disease activity score 6 months after switching to SC MTX. Significance of change was calculated with test of proportion/chi square test.Results:Fifty patients were reviewed, thirty eight (76%) were female and twelve (24%) were male with age ranging between 34 - 86 years (median 61.5 years). Switching to MTX injection was done within 2 yrs of diagnosis in 21 (42%) patients, between 2-5 yrs of diagnosis in 11 (22%) patients and more than 5 yrs after diagnosis in 18 (36%) patients. The main reasons of switching were either maximum MTX dose (25mg) or intolerance to oral MTX at any dose.After switching methotrexate, review at 6 months showed 26 patients (52%) in remission (compared to 6 at baseline) and 3 (6%) patients avoided the need to go on biologic therapy. Five patient commenced on biologic therapy between 3 and 6 months.Table 1.Disease activity compared at Baseline and at 6 monthsDisease ActivityBaselineAt 6 monthsRemission <2.6626 (p<0.0001)Mild (26-3.19)1110Mod (3.2 - 5.09)259 (p<0.01)Severe (>5.1)85Conclusion:Switching to SC Methotrexate even in patients with long duration of disease results in significant number of patients achieving remission or lower disease activity (P<0.001). This may obviate the need of biologics therapyDisclosure of Interests:None declared


2021 ◽  
Author(s):  
Hong Xi Sha ◽  
Kumar Veerapen ◽  
Sook Khuan Chow ◽  
Suk Chyn Gun ◽  
Ing Soo Lau ◽  
...  

Abstract Methotrexate (MTX) is the most widely used disease-modifying anti-rheumatic drug (DMARD) for rheumatoid arthritis (RA). Many studies have attempted to understand the genetic risk factors that affect the therapeutic outcomes in RA patients treated with MTX. Unlike other studies that focus on the populations of Caucasians, Indian and east Asian countries, this study investigated the impacts of six single nucleotide polymorphisms (SNPs) that are hypothesized to affect the outcomes of MTX treatment in Malaysian RA patients. A total of 647 RA patients from three ethnicities (NMalay = 153; NChinese = 326; NIndian = 168) who received MTX monotherapy (minimum 15 mg per week) were sampled from three hospitals in Malaysia. SNPs were genotyped in patients using TaqMan real-time PCR assay. Data obtained were statistically analysed for the association between SNPs and MTX efficacy and toxicity. Analysis of all 647 RA patients indicated that none of the SNPs has influence on either MTX efficacy or MTX toxicity according to the Chi-square test and binary logistic regression. However, stratification by self-identified ancestries revealed that two out of six SNPs, ATIC C347G (rs2372536) (OR=0.5478, 95%CI=0.3396-0.8835, p=0.01321) and ATIC T675C (rs4673993) (OR=0.5247, 95%CI=0.3248-0.8478, p=0.008111), were significantly associated with MTX adequate response in RA patients with Malay ancestry (p < 0.05). As for the MTX toxicity, no significant association was identified for any SNPs selected in this study. Taken all together, ATIC C347G and ATIC T675C can be further evaluated on their impact in MTX efficacy using larger ancestry-specific cohort, and also incorporating high-order gene-gene and gene-environment interactions.


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