scholarly journals GA genotype of the Arg280His polymorphism on the XRCC1 gene: Genetic susceptibility genotype in differentiated thyroid carcinomas?

2021 ◽  
Vol 24 (1) ◽  
pp. 73-80
Author(s):  
NG Kirnap ◽  
NB Tutuncu ◽  
Y Yalcin ◽  
HPB Cebi ◽  
T Tutuncu ◽  
...  

Abstract Differentiated thyroid carcinomas (DTC) are the most common form of endocrine malignancies. The role of genetic variations in the development of papillary thyroid carcinoma (PTC) is approximately 60.0-70.0%. The X-ray repair cross-complementing group 1 (XRCC1) protein has an important role in DNA repair mechanisms and genomic polymorphisms of XRCC1 gene affect the function of the protein. In the present case-control study, we aimed to compare the genotype frequency distributions of XRCC1 single nucleotide polymorphisms (SNPs) in terms of the presence of other risk factors (Hashimoto’s thyroiditis, smoking, obesity, radiation exposure) in patients with thyroid nodules who had fine-needle aspiration biopsy (FNAB) and/or thyroid surgery due to thyroid cancer. The genotype frequency distributions of three common XRCC1 SNPs (Arg194Trp, Arg399Gln, Arg280His) were compared to those with DTC (n = 228), benign thyroid nodules (BTN, n = 100) and healthy controls (n = 93) in terms of certain pre defined risk factors such as the presence of Hashimoto’s thyroiditis, smoking, obesity, a family history of thyroid cancer and radiation exposure. The frequency of the GA genotype of Arg280His in DTC cases was found to be higher than in those with BTN and the healthy control group (p <0.001). The DTC group had the lowest frequency of AA genotype of Arg280His (35.5%, p <0.001). Among those with a family history of thyroid cancer, 78.9% had a GA genotype and 21.1% had the AA genotype of Arg280His (p = 0.004). The Arg280His GA genotype was more common in DTC than in cancer-free controls. The GA genotype frequency was also high in DTC cases with a family history of thyroid cancer.

2019 ◽  
Vol 103 (1-2) ◽  
pp. 9-14
Author(s):  
Bahadır Öz ◽  
Serap Doğan ◽  
Ertan Emek ◽  
Muhammed Akyüz ◽  
Alper Akcan ◽  
...  

The objective of the current study was to determine the risk of malignancy in patients with thyroid nodules with cytology of indeterminate follicular and indeterminate Hürthle cell neoplasm (HN). The cytologic diagnosis of follicular neoplasm (FN) or HN remains a diagnostic challenge. Often, surgery is recommended for such lesions. A retrospective analysis was performed on 80 patients who underwent thyroid surgery following a diagnosis of indeterminate FN and indeterminate HN in thyroid fine-needle aspiration biopsy. Sex; age; family history of thyroid cancer and radiation exposure; coexisting thyroid conditions, such as solitary nodule; multinodularity; cytologic diagnosis; sonographic features; type of surgical treatment; and histopathologic results were recorded. Of the 80 patients, 52 (65%) had FN on fine-needle aspiration biopsy cytology and 28 (35%) had HN. A total of 23 patients (28.7%) had primary thyroid cancers on surgical pathology, and 57 (71.3%) had benign diagnoses. Univariate analysis showed no differences between the benign and malignant groups by sex, nodule size, family history of thyroid cancer, history of radiation exposure, presence of solitary nodule or multinodularity in the nodular features. In multivariate binary logistic regression analysis, the factors that were statistically significant predictors of malignancy were microcalcification [odds ratio (OR), 10.9; 95% confidence interval (CI), 2.18–54.7; P = 0.004], being older than 45 years (OR, 4.2; 95% CI, 1.25–14.63; P = 0.02]. The independent predictors of malignancy in FN and HN are micorcalcification and being older than 45 years, the use of which may predict the risk of thyroid cancer.


2016 ◽  
Vol 17 (2) ◽  
pp. 255 ◽  
Author(s):  
Shin Hye Hwang ◽  
Eun-Kyung Kim ◽  
Hee Jung Moon ◽  
Jung Hyun Yoon ◽  
Jin Young Kwak

2020 ◽  
Vol 18 ◽  
Author(s):  
Akshaya Srikanth Bhagavathula ◽  
Abdullah Shehab ◽  
Anhar Ullah ◽  
Jamal Rahmani

Background: The increasing incidence of cardiovascular disease (CVD) threatens the Middle Eastern population. Several epidemiological studies have assessed CVD and its risk factors in terms of the primary prevention of CVD in the Middle East. Therefore, summarizing the information from these studies is essential. Aim: We conducted a systematic review to assess the prevalence of CVD and its major risk factors among Middle Eastern adults based on the literature published between January 1, 2012 and December 31, 2018 and carried out a meta-analysis. Methods: We searched electronic databases such as PubMed/Medline, ScienceDirect, Embase and Google Scholar to identify literature published from January 1, 2012 to December 31, 2018. All the original articles that investigated the prevalence of CVD and reported at least one of the following factors were included: hypertension, diabetes, dyslipidaemia, smoking and family history of CVD. To summarize CVD prevalence, we performed a random-effects meta-analysis. Results: A total of 41 potentially relevant articles were included, and 32 were included in the meta-analysis (n=191,979). The overall prevalence of CVD was 10.1% (95% confidence interval (CI): 7.1-14.3%, p<0.001) in the Middle East. A high prevalence of CVD risk factors, such as dyslipidaemia (43.3%; 95% CI: 21.5-68%), hypertension (26.2%; 95% CI: 19.6-34%) and diabetes (16%; 95% CI: 9.9-24.8%), was observed. The prevalence rates of other risk factors, such as smoking (12.4%; 95% CI: 7.7-19.4%) and family history of CVD (18.7%; 95% CI: 15.4-22.5%), were also high. Conclusion: The prevalence of CVD is high (10.1%) in the Middle East. The burden of dyslipidaemia (43.3%) in this region is twice as high as that of hypertension (26.2%) and diabetes mellitus (16%). Multifaceted interventions are urgently needed for the primary prevention of CVD in this region.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meng Wang ◽  
Wei-Wei Gong ◽  
Feng Lu ◽  
Ru-Ying Hu ◽  
Qing-Fang He ◽  
...  

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Inés Urrutia ◽  
◽  
Alicia Martín-Nieto ◽  
Rosa Martínez ◽  
J Oriol Casanovas-Marsal ◽  
...  

AbstractThe aim of this study was to estimate the incidence of diabetes mellitus in the Basque Country and the risk factors involved in the disease by reassessing an adult population after 7 years of follow-up. In the previous prevalence study, 847 people older than 18 years were randomly selected from all over the Basque Country and were invited to answer a medical questionnaire, followed by a physical examination and an oral glucose tolerance test. In the reassessment, the same variables were collected and the resulting cohort comprised 517 individuals of whom 43 had diabetes at baseline. The cumulative incidence of diabetes was 4.64% in 7 years and the raw incidence rate was 6.56 cases/1000 person-years (95%CI: 4.11–9.93). Among the incident cases, 59% were undiagnosed. The most strongly associated markers by univariate analyses were age > 60 years, dyslipidaemia, prediabetes and insulin resistance. We also found association with hypertension, obesity, family history of diabetes and low education level. Multivariate analysis adjusted for age and sex showed that a set of risk factors assessed together (dyslipidaemia, waist-to-hip-ratio and family history of diabetes) had great predictive value (AUC-ROC = 0.899, 95%CI: 0.846–0.953, p = 0.942), which suggests the need for early intervention before the onset of prediabetes.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Florence Jaguga

Abstract Background Stuttering is a rare side effect of clozapine. It has been shown to occur in the presence of one or more factors such as abnormal electrophysiological findings and seizures, extrapyramidal symptoms, brain pathology, and a family history of stuttering. Few case reports have documented the occurrence of clozapine-induced stuttering in the absence of these risk factors. Case presentation A 29-year-old African male on clozapine for treatment-resistant schizophrenia presented with stuttering at a dosage of 400 mg/day that resolved with dose reduction. Electroencephalogram findings were normal, and there was no clinical evidence of seizures. The patient had no prior history or family history of stuttering, had a normal neurological examination, and showed no signs of extrapyramidal symptoms. Conclusion Clinicians ought to be aware of stuttering as a side effect of clozapine, even in the absence of known risk factors. Further research should investigate the pathophysiology of clozapine-induced stuttering.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Malika A Swar ◽  
Marwan Bukhari

Abstract Background/Aims  Osteoporosis (OP) is an extra-articular manifestation of rheumatoid arthritis (RA) that leads to increased fracture susceptibility due to a variety of reasons including immobility and cytokine driven bone loss. Bone loss in other populations has well documented risk factors. It is unknown whether bone loss in RA predominantly affects the femoral neck or the spine. This study aimed to identify independent predictors of low bone mineral density (BMD) in patients RA at the lumbar spine and the femoral neck. Methods  This was a retrospective observational cohort study using patients with Rheumatoid arthritis attending for a regional dual X-ray absorptiometry (DEXA) scan at the Royal Lancaster Infirmary between 2004 and 2014. BMD in L1-L4 in the spine and in the femoral neck were recorded. The risk factors investigated were steroid use, family history of osteoporosis, smoking, alcohol abuse, BMI, gender, previous fragility fracture, number of FRAX(tm) risk factors and age. Univariate and Multivariate regression analysis models were fitted to explore bone loss at these sites using BMD in g/cm2 as a dependant variable. . Results  1,527 patients were included in the analysis, 1,207 (79%) were female. Mean age was 64.34 years (SD11.6). mean BMI was 27.32kg/cm2 (SD 5.570) 858 (56.2%) had some steroid exposure . 169(11.1%) had family history of osteoporosis. fragility fracture history found in 406 (26.6%). 621 (40.7%) were current or ex smokers . There was a median of 3 OP risk factors (IQR 1,3) The performance of the models is shown in table one below. Different risk factors appeared to influence the BMD at different sites and the cumulative risk factors influenced BMD in the spine. None of the traditional risk factors predicted poor bone loss well in this cohort. P129 Table 1:result of the regression modelsCharacteristicB femoral neck95% CIpB spine95%CIpAge at scan-0.004-0.005,-0.003&lt;0.01-0.0005-0.002,0.00050.292Sex-0.094-0.113,-0.075&lt;0.01-0.101-0.129,-0.072&lt;0.01BMI (mg/m2)0.0080.008,0.0101&lt;0.010.01130.019,0.013&lt;0.01Fragility fracture-0.024-0.055,0.0060.12-0.0138-0.060,0.0320.559Smoking0.007-0.022,0.0350.650.0286-0.015,0.0720.20Alcohol0.011-0.033,0.0 5560.620.0544-0.013,0.1120.11Family history of OP0.012-0.021,0.0450.470.0158-0.034,0.0650.53Number of risk factors-0.015-0.039,0.0080.21-0.039-0.075,-0.0030.03steroids0.004-0.023,0.0320.030.027-0.015,0.0690.21 Conclusion  This study has shown that predictors of low BMD in the spine and hip are different and less influential than expected in this cohort with RA . As the FRAX(tm) tool only uses the femoral neck, this might underestimate the fracture risk in this population. Further work looking at individual areas is ongoing. Disclosure  M.A. Swar: None. M. Bukhari: None.


Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1952
Author(s):  
Anna Johansson ◽  
Isabel Drake ◽  
Gunnar Engström ◽  
Stefan Acosta

Risk factors for ischemic stroke is suggested to differ by etiologic subtypes. The purpose of this study was to examine the associations between modifiable and non-modifiable risk factors and atherothrombotic stroke (i.e., excluding cardioembolic stroke), and to examine if the potential benefit of modifiable lifestyle factors differs among subjects with and without predisposing comorbidities. After a median follow-up of 21.2 years, 2339 individuals were diagnosed with atherothrombotic stroke out of 26,547 study participants from the Malmö Diet and Cancer study. Using multivariable Cox regression, we examined non-modifiable (demographics and family history of stroke), semi-modifiable comorbidities (hypertension, dyslipidemia, diabetes mellitus and atherosclerotic disease), and modifiable (smoking, body mass index, diet quality, physical activity, and alcohol intake) risk factors in relation to atherothrombotic stroke. Higher age, male gender, family history of stroke, and low educational level increased the risk of atherothrombotic stroke as did predisposing comorbidities. Non-smoking (hazard ratio (HR) = 0.62, 95% confidence interval (CI) 0.56–0.68), high diet quality (HR = 0.83, 95% CI 0.72–0.97) and high leisure-time physical activity (HR = 0.89, 95% CI 0.80–0.98) decreased the risk of atherothrombotic ischemic stroke independent of established risk factors, with non-significant associations with body mass index and alcohol intake. The effect of the lifestyle factors was independent of predisposing comorbidities at baseline. The adverse effects of several cardiovascular risk factors were confirmed in this study of atherothrombotic stroke. Smoking cessation, improving diet quality and increasing physical activity level is likely to lower risk of atherothrombotic stroke in the general population as well as in patient groups at high risk.


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