Association of methylenetetrahydrofolate reductase genetic polymorphisms with atlantoaxial dislocation

2007 ◽  
Vol 7 (6) ◽  
pp. 623-630 ◽  
Author(s):  
Mandakini Pradhan ◽  
Sanjay Behari ◽  
Samir K. Kalra ◽  
Priti Ojha ◽  
Sarita Agarwal ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Atlantoaxial Dislocation ◽  
Restriction Enzyme Digestion ◽  
Chi Square ◽  
Folate Pathway ◽  
Irreducible Variety ◽  
Chi Square Test ◽  
Genetic Mechanisms ◽  
Polymerase Chain ◽  
Genotype And Allele Frequencies

Object Genetic mechanisms of atlantoaxial dislocation (AAD) have not previously been elucidated. The authors studied association of polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, which encodes enzymes of the folate pathway (implicated in causation of neural tube defects [NTDs]), in patients with AAD. Methods Molecular analysis of MTHFR polymorphisms (677C→T, cytosine to thymine and, 1298A→C, adenine to cytosine, substitutions) was carried out using polymerase chain reaction and restriction enzyme digestion in 75 consecutive patients with AAD and in their reducible (nine patients, 12%) and irreducible (66 patients, 88%) subgroups. Controls were 60 age- and sex-matched patients of the same ethnicity. Comparisons of genotype and allele frequencies were performed using a chi-square test (with significance at p < 0.05). Results The CT genotype frequency of MTHFR 677C→T polymorphism was significantly increased in the full group of patients with AAD (odds ratio [OR] 3.00, 95% confidence interval [CI] 1.28–7.14, p = 0.005) as well as in the irreducible subgroup (OR 2.81, 95% CI 1.17–6.86, p = 0.01). The frequency of T alleles was also higher in the AAD group (25.3%) than in controls (15%). The comparison of the combined frequency of CT and TT genotypes with the frequency of the CC genotype again showed significant association in AAD (OR 2.63, 95% CI 1.98–5.90, p = 0.009) and the irreducible (OR 2.5, 95% CI 1.1–5.74, p = 0.016) subgroup. There was, however, no significant association of MTHFR 1298A→C polymorphism with AAD. Conclusions Both MTHFR 677C→T polymorphism and higher T allele frequency have significant associations with AAD, especially the irreducible variety. Perhaps adequate supplementation of periconceptional folic acid to circumvent effects of this missense mutation (as is done for prevention of NTDs) would reduce the incidence of AAD.

scholarly journals Kondisi Kebersihan Lingkungan Berhubungan dengan Risiko Penularan Kasus Leptospirosis di Area Pasar Tradisional

2020 ◽  
pp. 199-208
Author(s):  
Dyah Widiastuti ◽  
Dwi Priyanto
Keyword(s):  
Cross Sectional Study ◽  
Market Area ◽  
Chi Square ◽  
Pathogenic Leptospira ◽  
Cross Sectional ◽  
Chi Square Test ◽  
History Of ◽  
Polymerase Chain ◽  
Gathering Place ◽  
The Relationship

Leptospirosis is associated with occupations which exposed workers to contaminated environments. The risk of leptospirosis exposure in the market as a gathering place for many people needs to be assessed, to obtain the basis for decision making to anticipate leptospirosis transmission. This study aimed to determine the relationship between market environmental conditions including market sanitation conditions, the level of rat density and the presence of leptospira-positive rats  toward the history of leptospirosis exposure among market workers (traders and janitors). A cross sectional study conducted in 35 markets in Banjarnegara and 175 market workers randomly selected. Blood samples analysed using ELISA against 40 Kda pathogenic Leptospira protein. Rat trapping  conducted in each market for two days with 100 traps. The caught mice examined with Polymerase Chain Reaction (PCR) to detect the presence of Leptospira bacteria in their kidneys. Leptospirosis exposure was spread in 17 markets in Banjarnegara. The PCR examination showed that the pathogenic Leptospira infected rats were spread in four markets in Banjarnegara. Chi square test showed that the hygene condition in market area was significantly associated with the leptospirosis exposure. Markets workers (traders and janitors) were at risk for leptospirosis proved by high seroprevalence of leptospirosis in this study.

scholarly journals Efficacy and Safety of Artemether-Lumefantrine for Treatment of Uncomplicated P. Falciparum malaria in Ethiopia: A Systematic Review and Meta-Analysis

2021 ◽  
Author(s):  
Abdulhakim Abamecha ◽  
Daniel Yilma ◽  
Wondimagegn Adissu ◽  
Delenasaw Yewhalaw ◽  
Alemseged Abdissa
Keyword(s):  
Systematic Review ◽  
Falciparum Malaria ◽  
Meta Analysis ◽  
Treatment Success ◽  
Uncomplicated Falciparum Malaria ◽  
Chi Square ◽  
Inverse Variance ◽  
Chi Square Test ◽  
Polymerase Chain ◽  
Variance Index

Abstract Background: Anti-malarial drug resistance, in particular resistance to Plasmodium falciparum, challenges the treatment and control of malaria. In Ethiopia, the first-line treatment of uncomplicated falciparum malaria has been changed from sulphadoxine-pyrimethamine (SP) to artemether-lumefantrine (AL) in 2004. To maximize efficacy of anti-malarial drugs and ensure adequate treatment outcomes; monitoring drug efficacy regularly is vital to establish rational malaria treatment guidelines. This systematic review and meta-analysis is performed to obtain an overall stronger evidence to guide management of uncomplicated falciparum malaria from the existing literature in Ethiopia after policy changes in 2004.Methods: A systematic literature search was performed using the preferred reporting items for systematic review and meta-analysis (PRISMA) from published therapeutic efficacy studies conducted in Ethiopia from 2004 to 2020. The search was performed from Pubmed, Google Scholar and Clinical trial registry databases to identify literature. Two reviewers independently assessed study eligibility and extracted data. While computing the efficacy of AL, polymerase chain reaction (PCR)-corrected cure rate (adequate clinical and parasitological response, ACPR) at 28th day was considered as the primary endpoint. Meta-analysis was computed using OpenMeta-Analysis software to calculate the pooled ACPR. Statistical heterogeneity was evaluated with the Cochran chi-square test (X2) test and inverse variance index (I2). Publication bias was analyzed using funnel plots and Egger’s test statistics. The review protocol is registered in PROSPERO, number CRD42020201859.Results: Out of studies screened, fifteen studies fulfilled the inclusion criteria, and were included in final analysis with a total number of 1523 participants. Treatment success of AL for uncomplicated falciparum malaria in all combined studies was 98.4% [(95% CI 97.6–99.1), P< 0.001]. Polymerase chain reaction (PCR)-corrected AL treatment success rate of 98.7% [(95% CI 97.7-99.6), P<0.001)]. The efficacy of AL with PCR-corrected cure rates ranging from 95.0 to 99.4% in per-protocol analysis, and 88.8 to 97.4% in intention-to-treat analysis. Based on the analysis, Cochrane chi-square test (X2) test and inverse variance index (I2) indicated that the included studies with heterogeneity (X2=20.48, (df=14), P=0.116 and I2=31.65%). The highest parasite positivity rate at day-3 was 5.7%. Adverse events ranged from mild to serious but were not directly attributed to the drug.Conclusion: The present review has shown that AL is efficacious and safe for treatment of uncomplicated malaria in Ethiopia. However, few therapeutic efficacy studies were conducted in Ethiopia after treatment guideline was revised in 2004. AL has been used more than a decade in the study population without other alternative artemisinin-based combination therapy in Ethiopia and considering that the potential evolution of drug resistance is of a great concern, regular and continuous monitoring of its efficacy is warranted.

Possible association between craniofacial dimensions and genetic markers in ESR1 and ESR2

2020 ◽  
Vol 47 (1) ◽  
pp. 65-71 ◽  
Author(s):  
Marjorie Ayumi Omori ◽  
Jennifer Tsi Gerber ◽  
Guido Artemio Marañón-Vásquez ◽  
Mirian Aiko Nakane Matsumoto ◽  
Suyany Gabriely Weiss ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Cross Sectional Study ◽  
Chi Square ◽  
Cross Sectional ◽  
Lateral Cephalograms ◽  
Mandibular Body ◽  
Chi Square Test ◽  
Hardy Weinberg Equilibrium ◽  
Polymerase Chain ◽  
School Of Dentistry

Objective: To investigate the association of genetic markers in ESR1 and ESR2 with craniofacial measurements. Design: Cross-sectional study. Setting: School of Dentistry of Ribeirão Preto, University of São Paulo. Participants: A total of 146 biologically unrelated, self-reported Caucasian Brazilians with no syndromic conditions were included. Methods: Sagittal and vertical measurements (ANB, S-N, Ptm’-A’, Co-Gn, Go-Pg, N-Me, ANS-Me, S-Go and Co-Go) from lateral cephalograms were examined for craniofacial evaluation. DNA was extracted from saliva and genetic markers in ESR1 (rs2234693 and rs9340799) and in ESR2 (rs1256049 and rs4986938) were analysed by real-time polymerase chain reaction. Hardy–Weinberg equilibrium was evaluated using the Chi-square test within each marker. The associations between craniofacial dimensions and genotypes were analysed by linear regression and adjusted by sex and age. The established alpha was 5%. Results: Individuals carrying CC in ESR1 rs2234693 had a decrease of –3.146 mm in ANS-Me ( P = 0.044). In addition, rs4986938 in ESR2 was associated with S-N measurement ( P = 0.009/ ß = –3.465). This marker was also associated with Go-Pg measurement, in which the CC genotype had a decrease of –3.925 mm in the length of the mandibular body ( P = 0.043). Conclusion: The present study suggests that in ESR1 and ESR2 are markers for variations in the craniofacial dimensions. However, further research should confirm the results.

scholarly journals Universally Primed Polymerase Chain Reaction Alleles and Internal Transcribed Spacer Restriction Fragment Length Polymorphisms Distinguish Two Subgroups in Botrytis aclada Distinct from B. byssoidea

2001 ◽  
Vol 91 (6) ◽  
pp. 527-533 ◽  
Author(s):  
K. Nielsen ◽  
A. F. Justesen ◽  
D. Funck Jensen ◽  
D. S. Yohalem
Keyword(s):  
Polymerase Chain Reaction ◽  
Internal Transcribed Spacer ◽  
Restriction Analysis ◽  
Group Method ◽  
Chain Reaction ◽  
Chi Square ◽  
Bootstrap Analysis ◽  
Pair Group ◽  
Chi Square Test ◽  
Polymerase Chain

Fifty-one isolates representing the four Botrytis spp. associated with onion neck rot were clustered by unweighted pair group method with arithmetic mean based on universal-primed polymerase chain reaction (UP-PCR) fingerprints. Bootstrap analysis of the consensus phenogram clearly demonstrated five strong clusters among the four Botrytis spp.: B. cinerea (C), B. squamosa (S), B. byssoidea (B), and B. aclada (AI and AII). Subdivision of the 30 B. aclada isolates, AI (14) and AII (16), from Europe, Egypt, North America, and Japan was further supported by restriction analysis of the internal transcribed spacer of the ribosomal genes and spore size measurements. Gene diversities (H) among AI and AII isolates were very low (0.007 and 0.043, respectively). A likelihood ratio chi-square test (G2) of Nei's coefficient of genetic differentiation (GST) showed that both B. aclada subgroups, AI and AII, were significantly different from B. byssoidea (P < 0.001), and that B. aclada subgroups AI and AII were significantly different from each other (P < 0.001). No UP-PCR alleles were shared by AI and B. byssoidea isolates, whereas 10 and 12 alleles were shared by AI:AII and AII:B. byssoidea, respectively. The hypothesis that AII may be a hybrid between AI and B. byssoidea is discussed.

scholarly journals MiR-106B Represents an Innovative Bio-marker in Cholangiocarcinoma Detection

2020 ◽  
Author(s):  
Ning Wang ◽  
Yanni Li ◽  
Yanfang Zheng ◽  
Huoming Chen ◽  
Xiaolong Wen ◽  
...  
Keyword(s):  
Roc Curve ◽  
Clinical Stage ◽  
Serum Levels ◽  
Diagnostic Value ◽  
Diagnostic Biomarker ◽  
Chi Square ◽  
Chi Square Test ◽  
Healthy Control ◽  
Important Regulator ◽  
Polymerase Chain

Abstract Background Cholangiocarcinoma (CCA) is one of the most aggressive malignancies. Late diagnosis may be responsible for the high mortality. MicroRNA-106b (MiR-106b) is accepted as an important regulator in various human malignancies. The current study was aimed to investigate the diagnostic value of miR-106b in CCA. Methods Serum levels of miR-106b in CCA patients and healthy control were evaluated by quantitative real-time polymerase chain reaction (qRT-PCR). Chi-square test was used to analyze the association of miR-106b with the clinicopathological features. To evaluate the diagnostic value of miR-106b in CCA, the ROC curve was constructed. Results The expression of miR-106b was significantly increased in CCA samples compared with the healthy controls (P < 0.001). The overexpression of miR-106b was remarkable correlated with the lymphatic node metastasis (P = 0.038), clinical stage (P = 0.017) and differentiation (P = 0.009). ROC curve suggested that miR-106b was an effective diagnostic biomarker in CCA with the AUC of 0.913. The optimal cutoff value was 2.525, with the sensitivity of 89.7% and the specificity of 79.3%. Conclusions MiR-106b functions as an oncogene in CCA, which may be an potential diagnostic biomarker for CCA.

scholarly journals The Correlation of Rapid Antibody Results with SARS-CoV-2 PCR in COVID-19 Patients in Ulin General Hospital Banjarmasin

2021 ◽  
Vol 7 (3) ◽  
pp. 100
Author(s):  
Isa Ansori ◽  
Soraya Riefani ◽  
Ira Nurrasyidah
Keyword(s):  
General Hospital ◽  
Viral Infections ◽  
Rapid Test ◽  
High Sensitivity ◽  
Test Results ◽  
Chi Square ◽  
The Social ◽  
Chi Square Test ◽  
Polymerase Chain ◽  
Rapid Antibody

Introduction: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is the cause of clinical disease, better known as COVID-19. The most common method to detect COVID-19 is serological testing of IgM and IgG in response to viral infections using rapid diagnostic test (RDT). Several other guidelines consider polymerase chain reaction (PCR) as the gold standard for diagnosis becausePCR has high sensitivity and specificity values in detecting SARS-CoV-2.Methods: This was a descriptive analytical study. The samples were taken from medical records of COVID-19 patients in Ulin General Hospital Banjarmasin from March to October 2020. Statistical Package for the Social Sciences (SPSS) 16.0 software and Chi-Square test were used for data analysis.Results: From 751 COVID-19 patients, 408 patients (54.32%) had rapid antibody with positive PCR, 132 patients (17.57%) had reactive rapid antibody with negative PCR, 152 patients (20.23%) had non-reactive rapid antibody with positive PCR, and 59 patients (7.85%) had non-reactive rapid antibody with negative PCR. The rapid antibody had sensitivity of 72.85% and specificity of 30.89%. From Chi-Square test, reactive rapid antibody was not correlated with PCR positive results; values of p = 0.320, odds ratio (OR) 1.20.Conclusion: The rapid test antibody could not be recommended as a diagnostic tool. In this study, it was also found that there was no relationship between reactive rapid test results and positive SARS-CoV PCR.

scholarly journals MicroRNA-124 alone might represent an indicator signifying cholangiocarcinoma prognosis

2020 ◽  
Author(s):  
Ning Wang ◽  
Yanni Li ◽  
Yanfang Zheng ◽  
Huoming Chen ◽  
Xiaolong Wen ◽  
...  
Keyword(s):  
Overall Survival ◽  
Cox Regression ◽  
Prognostic Biomarker ◽  
Prognostic Indicator ◽  
Rank Test ◽  
Chi Square ◽  
Log Rank Test ◽  
Kaplan Meier ◽  
Chi Square Test ◽  
Polymerase Chain

Abstract Background: Previous studies have demonstrated that microRNAs (miRNAs) played a crucial role in various diseases, including cancers. The aim of the study was to evaluate the clinical significance of miR-124 in patients with cholangiocarcinoma (CCA).Methods: The expression pattern of miR-124 was detected in CCA tissues using quantitative reserve transcription polymerase chain reaction (qRT-PCR). The correlation of miR-124 expression with clinicopathological features and overall survival of patients were explored using chi-square test, Kaplan-Meier methods and Cox regression analyses.Results: The miR-124 expression level was strong down-regulated in CCA tissues compared with normal para-cancerous tissues (P<0.001). Moreover, aberrant miR-124 expression was significantly associated with differentiation (P=0.045) and lymph node metastasis (P=0.040). In addition, Kaplan-Meier method and log-rank test revealed that patients with low miR-124 expression has a poorer overall survival compared with those with high miR-124 expression (P=0.002). Furthermore, multivariate analysis confirmed that miR-124 expression (P=0.006; HR=2.006; 95%CI: 1.224-3.289) was an independent prognostic indicator in CCA.Conclusions: Collectively, our results defined miR-124 expression plays important roles in CCA patients. MiR-124 expression might used as a valuable prognostic biomarker for patients with CCA.

scholarly journals Trends in oxygen therapy in patients with moderate to severe COVID-19 admitted to the ICU

2021 ◽  
Vol 8 (4) ◽  
pp. 10-14
Author(s):  
Raghunath S S ◽  
Bheema Devanand ◽  
Mohammed Nizamuddeen B ◽  
Bala Bhaskar S ◽  
Pradnya Kothari ◽  
...  
Keyword(s):  
Oxygen Therapy ◽  
Prospective Observational Study ◽  
Severe Disease ◽  
Comfort Level ◽  
Chi Square ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
Chi Square Test ◽  
Polymerase Chain ◽  
Ethical Clearance

The most concerning complication of severe acute respiratory syndrome corona virus 2 (SARSCoV-2) pneumonia is acute hypoxemic failure. Though various antivirals, steroids, immunomodulators have been tried, oxygen therapy remains the mainstay of treatment. After obtaining institutional ethical clearance, a prospective observational study was conducted on 102 COVID-19 positive patients aged 20 years and above, admitted in the ICU with moderate to severe disease. COVID-19 infection was confirmed by polymerase chain reaction or rapid antigen test. Data of two demographically comparable groups i.e., patients on HFNO and NIV was analysed outcome was defined as discharge from ICU, shift to other non-invasive modes of oxygen therapy, endotracheal intubation or death, and comfort level for each mode. The data was analysed using SPSS-16.0, Chi-square test and “t” value test were applied.Comparison ofthe mean number of invasive ventilator free days of HFNO and NIV was insignificant(p&#62;0.05). Among the patients on HFNO (high flow nasal oxygen) 49.09% were stepped down to NRB (non-rebreathing mask) whereas 7.27% went for intubation which is significant compared to NIV mask (non-invasive ventilation), where 13.64% were stepped down to HFNO and 34.09% were intubated (p=0.000).Oxygen therapy with HFNO is associated with better outcome and less mortality when compared with NIV.

Abstract 3456: Assessment of Genetic Risk for Hypertriglyceridemia

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Kimihiko Kato ◽  
Mitsutoshi Oguri ◽  
Tetsuro Yoshida ◽  
Takeshi Hibino ◽  
Kazuhiro Yajima ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Serum Triglyceride ◽  
Community Dwelling ◽  
Multivariable Logistic Regression Analysis ◽  
Chi Square ◽  
Suspension Array ◽  
Array Technology ◽  
Chi Square Test ◽  
Polymerase Chain ◽  
Subject Panel

Introduction. Hypertriglyceridemia is an important risk factor for coronary heart disease. The purpose of the present study was to identify gene polymorphisms associated with hypertriglyceridemia (serum triglyceride concentration, ≥1.65 mmol/L) for assessment of the genetic risk for this condition. Methods. A total of 5206 individuals from two independent populations was examined: Subject panel A comprised 3787 individuals who either visited outpatient clinics of or were admitted to the participating hospitals because of various symptoms or for a health checkup; subject panel B comprised 1419 community-dwelling elderly individuals. The genotypes for 100 polymorphisms of 65 candidate genes were determined by a method that combines the polymerase chain reaction and sequence-specific oligonucleotide probes with suspension array technology. Given the multiple comparisons of genotypes with hypertriglyceridemia, we adopted the criterion of a false discovery rate (FDR) of <0.05 for significant association in initial screening with the chi-square test. Results. Evaluation of genotype distributions by the chi-square test and subsequent multivariable logistic regression analysis with adjustment for age and sex revealed that seven polymorphisms [−1131T→ C, −3A→G, and 553G→T (Gly185Cys) of APOA5 ; 1100C→T of APOC3 ; 85T→C of APOA1 ; 41A→G (Glu14Gly) of ACAT2 ; C→G (Ser47Stop) of LPL ] were significantly (FDR < 0.05) associated with hypertriglyceridemia in subject panel A. To validate these associations, we examined the same polymorphisms in subject panel B. The six polymorphisms of APOA5 , APOC3 , APOA1 , and LPL , but not that of ACAT2 , were again significantly associated with hypertriglyceridemia. Serum triglyceride concentrations differed significantly ( P< 0.05, ANOVA) among genotypes of each of these six polymorphisms in both subject panels. The three polymorphisms of APOA5 were in linkage disequilibrium. Conclusions. Polymorphisms of APOA5 , APOC3 , APOA1 , and LPL are determinants of hypertriglyceridemia. Genotyping of these polymorphisms may prove informative for assessment of the genetic risk for hypertriglyceridemia and may contribute to the personalized prevention of this condition.

scholarly journals Headache associated with COVID-19: Frequency, characteristics and association with anosmia and ageusia

Cephalalgia ◽  
2020 ◽  
Vol 40 (13) ◽  
pp. 1443-1451 ◽  
Author(s):  
Pedro Augusto Sampaio Rocha-Filho ◽  
João Eudes Magalhães
Keyword(s):  
Polymerase Chain Reaction ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Chi Square ◽  
Cross Sectional ◽  
Severe Intensity ◽  
Chi Square Test ◽  
Polymerase Chain

Objectives To assess the frequency and characteristics of headache in patients with COVID-19 and whether there is an association between headache and anosmia and ageusia. Methods This was a cross-sectional study. Consecutive patients admitted to hospital with COVID-19, confirmed by reverse transcription polymerase chain reaction (RT-PCR) technique, were assessed by neurologists. Results Seventy-three patients were included in the study, 63% were male; the median age was 58 years (IQR: 47–66). Forty-seven patients (64.4%) reported headaches, which had most frequently begun on the first day of symptoms, were bilateral (94%), presenting severe intensity (53%) and a migraine phenotype (51%). Twelve patients (16.4%) presented with headache triggered by coughing. Eleven (15%) patients reported a continuous headache. Twenty-eight patients (38.4%) presented with anosmia and 29 (39.7%) with ageusia. Patients who reported hyposmia/anosmia and/or hypogeusia/ageusia experienced headache more frequently than those without these symptoms (OR: 5.39; 95% CI:1.66–17.45; logistic regression). Patients with anosmia and ageusia presented headache associated with phonophobia more often compared to those with headache without these complaints (Chi-square test; p < 0.05). Headache associated with COVID-19 presented a migraine phenotype more frequently in those experiencing previous migraine ( p < 0.05). Conclusion Headaches associated with COVID-19 are frequent, are generally severe, diffuse, present a migraine phenotype and are associated with anosmia and ageusia.

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