scholarly journals RNF213 p.R4810K (c.14429G > A) Variant Determines Anatomical Variations of the Circle of Willis in Cerebrovascular Disease

2021 ◽  
Vol 13 ◽  
Author(s):  
Futoshi Eto ◽  
Takeshi Yoshimoto ◽  
Shuhei Okazaki ◽  
Kunihiro Nishimura ◽  
Shiori Ogura ◽  
...  

IntroductionDysregulation of the RING finger protein 213 (RNF213) gene impairs vascular formation in experimental animal models. In addition, vascular abnormalities in the circle of Willis are associated with cerebrovascular disease. Here, we evaluated the relationship between the East Asian founder variant RNF213 p.R4810K and consequent anatomical variations in the circle of Willis in cerebrovascular disease.Patients and MethodsThe present study is an observational cross-sectional study. It included patients with acute anterior circulation non-cardioembolic stroke admitted to our institution within 7 days of symptom onset or last-known-well from 2011 to 2019, and those who participated in the National Cerebral and Cardiovascular Center Biobank. We compared anatomical variations of the vessels constituting the circle of Willis between RNF213 p.R4810K (c.14429G > A) variant carriers and non-carriers using magnetic resonance angiography and assessed the association between the variants and the presence of the vessels constituting the circle of Willis. Patients with moyamoya disease were excluded.ResultsFour hundred eighty-one patients [146 women (30%); median age 70 years; median baseline National Institutes of Health Stroke Scale score 5] were analyzed. The RNF213 p.R4810K variant carriers (n = 25) were more likely to have both posterior communicating arteries (PComAs) than the variant non-carriers (n = 456) (56% vs. 13%, P < 0.01). Furthermore, variant carriers were less likely to have an anterior communicating artery (AComA) than non-carriers (68% vs. 84%, P = 0.04). In a multivariate logistic regression analysis, the association of RNF213 p.R4810K variant carriers with the presence of both PComAs and the absence of AComA remained significant.ConclusionOur findings suggest that the RNF213 p.R4810K variant is an important factor in determining anatomical variations in the circle of Willis.

2018 ◽  
Vol 3 (2) ◽  
pp. 99-105
Author(s):  
Muhammad Abdul Momen Khan ◽  
Shakir Husain ◽  
Md Shohidul Islam ◽  
Md Amir Hossain

Background: Circle of Willis is an anastomotic polygon at the base of the brain which forms an important collateral network to maintain adequate cerebral perfusion. Changes in the normal morphology of the circle may causes the appearance and severity of symptoms of cerebrovascular disorders, such as aneurysms, infarctions and other vascular anomalies.Objectives: The aim of the present study was to analyses the anatomical variations of the circle of Willis by observing the variations in the cerebral arterial circle and was to clarify the clinical importance of these variations in certain forms of cerebrovascular diseases.Methodology: This cross-sectional study was conducted in the department of Neurointervention of Max Super-speciality Hospital, New Delhi, India and Neo multispeciality Hospital, Noida, Uttar Pradesh (UP), India during July 2016 to December 2016 for a period of six (6) months. Patients who were admitted in the Neurointervention department for digital subtraction angiography (DSA) were included in this study. The circle of Willis was then analyzed with the special reference to the complete or incomplete circle, any asymmetry in the configuration and variations in the size, and number of the component vessels, circle with multiple anomalies and absence, fenestration, duplication or triplication of any of the vessels.Results: Morphology and variations of the circle of Willis were studied in 74 patients undergone digital subtraction angiography (DSA). The normal pattern of circle of Willis was observed in 40(54.06%) cases and the remaining 34(45.94%) cases had one or more variations; however, 24(70.58%) cases had variations in the anterior circulation and 10(29.42%) cases had variations in the posterior circulation. 17(50%) cases had variations on the right side compared to 13(38.24%) variations on the left side. 4(11.76%) cases had variations in the anterior communicating artery. Incomplete circle of Willis were found 12(35.28%) cases. Multiple variations were observed in 11 cases (32.35%) in this study. In 4 cases anterior communicating artery aneurysms were observed.Conclusion: Variation of circle of Willis is common in this study of Indian population.Journal of National Institute of Neurosciences Bangladesh, 2017;3(2): 99-105


2016 ◽  
Vol 15 (1) ◽  
Author(s):  
Soe Ei Phyu ◽  
Zunariah Buyong ◽  
Radhiana Hassan ◽  
Jamalludin A. Rahman ◽  
Siti Kamariah Che Mohamed

Introduction: The anterior communicating artery (ACoA) complex of the cerebral circulation, an area with great anatomical diversity, forms part of the communicating arterial supply to the brain. As brain tissues are susceptible to ischemic death, knowledge of this variability is important in diagnosis and management of diseases affecting brain circulation. The aim of the study is to measure the prevalence and to describe these variations. Methods: All patients who underwent CT angiography (CTA) scanning in HTAA from January 2009 to August 2015 were selected. A cross-sectional study was done to study these variations in 81 reconstructed CTA images. Results: Eleven types of variations were described (typical pattern; hypoplasia, aplasia, and duplication of ACoA; hypoplasia, and aplasia of A1 segment of the anterior cerebral artery (ACA); hypoplasia, and aplasia of A2 segment of ACA; A2 segments of ACA arising from a common trunk; the third A2 segment; bihemispheric ACA). A1 segment is the part of ACA from the internal carotid artery to ACoA, and A2 segment is the part of ACA from ACoA to the junction between the rostrum and genu of the corpus callosum. The typical pattern was seen in 35.8%, and the cases with other variation types constituted 64.2%, which is higher compared to previous studies. The variations in ACoA alone were 43.2%, and the most common variation was the ACoA aplasia, accounting for 28.4%. Conclusions: This study shows the high prevalence of anatomical variations in the ACoA complex, and the probable difference of this figure in different populations.


2020 ◽  
Vol 58 (232) ◽  
Author(s):  
Prajwal Dhakal ◽  
Prakash Kayastha ◽  
Sharma Paudel ◽  
Sundar Suwal ◽  
Mohan Raj Sharma ◽  
...  

Introduction: Variation in Circle of Willis is a commonly encountered entity in patients undergoing computed tomography angiography, identification of which is crucial in the management of patients with vascular pathologies. The aim of the study was to find out the anatomical variations in the Circle of Willis in patients undergoing Computed Tomography cerebral angiography in a tertiary hospital in Nepal. Methods: This is a descriptive cross-sectional study involving 95 patients using convenient sampling techniques who were sent to the Department of Radiology and Imaging, Tribhuvan University Teaching hospital, for further evaluation of suspected vascular pathologies in the brain from April 2017 to September 2017. Ethical approval was taken from the Institutional Review Committee of the Institute of Medicine with reference number 326 (6-11-E). CT angiographic images of these patients were evaluated for the presence of variations in Circle of Willis, aneurysms, and other vascular pathologies. Data were analyzed using SPSS. Results: Among 95 subjects included in the study, the anatomical variations in the arteries of Circle of Willis was seen in 52 (54.7%) patients, hypoplastic posterior communicating artery being the most common variation 33 (34.7%). The aneurysm was seen in 22 (23.2%) of cases. Conclusions: CT Angiography is a commonly performed imaging modality for suspected cases of cerebral aneurysms and various other vascular pathologies. Multidetector computed tomography can effectively detect variations in arteries of Circle of Willis, recognition of which is crucial in operative management of vascular pathologies.


2020 ◽  
Vol 7 (2) ◽  
pp. 256-263
Author(s):  
Abdul Qodir

Penatalaksanaan farmakologis dan non farmakologis dipercaya dapat mengontrol tekanan darah dan mencegah komplikasi, tetapi banyak pasien hipertensi tekanan darahnya tidak terkontrol. Hal tersebut dikarenakan kepatuhan yang buruk dalam melaksanakan rekomendasi gaya hidup. Penelitian ini bertujuan untuk menganalisis determinan faktor yang berhungan dengan kepatuhan melaksanakan rekomendasi modifikasi gaya hidup. Penelitian ini menggunakan metode cross-sectional di pukesmas dinoyo Kota Malang tahun 2019. Teknik pengambilan sampel menggunakan Consecutive Sampling. Kuesioner yang digunakan meliputi : karakteristik demografi, pengetahuan dan rekomendasi mofifikasi gaya hidup pasien hipertensi. Hubungan antara rekomendasi modifikasi gaya hidup dengan variabel independen dianalisis menggunakan uji chi square dan analisis regresi logistik. 140 pasien hipertensi berpartisipasi dalam penelitian ini (60 laki-laki, 80 wanita). Prevalensi kepatuhan adalah 28,6 %. Tingkat pengetahuan berhubungan signifikan  dengan kepatuhan melaksanakan rekomendasi gaya hidup (p=0,00). Jenis kelamin, usia, dan tingkat pendidikan tidak mempunyai hubungan signifikan dengan kepatuhan rekomendasi modifikasi gaya hidup (p= 0,06; p=0,21; p=0,87). Pengetahuan mempunyai hubungan yang signifikan dengan kepatuhan rekomendasi modifikasi gaya hidup. Management of pharmacological and non-pharmacological is believed to control blood pressure and prevent complications,  but many hypertensive patients have uncontrolled blood pressure. This is due to poor adherence to recommended lifestyle modifications. This study was aimed to determine the factors associated with adherence to recommended lifestyle modifications of hypertensive patients. A cross-sectional study was conducted in Pukesmas Dinoyo Malang in 2019. Consecutive Sampling was used to select study subjects. The questionnaire included information about demographic characteristics, knowledge, practice of lifestyle-modification measures. Associations between adherence to lifestyle modification and independent variables were analyzed using chi square and multivariate logistic regression analysis. 140 hypertensive patients participated in the study (60 men, 80 women). The prevalence of adherence was 28.6%. The level of knowledge was significant associated with adherence to recommended lifestyle modifications (p = 0.00). Genders , age, and educational level were no significant associated with to recommended lifestyle modifications (p= 0.06; p=0.21; p=0.87). Knowledge was significant associated with adherence to recommended lifestyle modifications of hypertensive patients.


2021 ◽  
pp. 002076402110001
Author(s):  
Esra’ O Taybeh

Background: The magnitude of postpartum depression in Jordan is under documented, and little is known about its potential sociodemographic and clinical correlates. Purpose: The aim of this study was to explore the prevalence and risk factors associated with postpartum depression among Jordanian mothers in the first 18 months after delivery. Method: This descriptive cross-sectional study was carried out from April to June 2020 in Jordan. A web-based survey was used for recruiting eligible participants. An Arabic version of the validated self-administered Edinburgh Postnatal Depression Scale questionnaire was used to measure postpartum depression with a cut-off score of ⩾12 which indicates probable depression. Results: A total of 1,071 Jordanian women participated in the study. Of those, 567 women had postpartum depression (52.9%). Multivariate logistic regression analysis revealed that postpartum depression was significantly associated with marital conflict (OR: 4.91; 95% CI: 2.36–10.20), negative attitude from the pregnancy (OR: 0.67; 95% CI: 0.45–0.99), unplanned pregnancies (OR: 1.73; 95% CI: 1.16–2.60), lack of social support (OR: 1.93; 95% CI: 1.12–3.32), time from last delivery (OR: 0.99; 95% CI: 0.98–1.00), insomnia (OR: 0.53; 95% CI: 0.35–0.82), and depression during the pregnancy (OR: 0.51; 95% CI: 0.33–0.78). Most of the participants (65.7%) sought social support to avoid, reduce, or treat postpartum depression. Conclusions: Postpartum depression among Jordanian women was the highest in comparison to that of women in other countries in the region. Therefore, screening for the presence of depressive symptoms should be implemented during regular pregnancy care visits. Social support should be encouraged in order to avoid, reduce, or treat postpartum depression.


2021 ◽  
Vol 79 (1) ◽  
Author(s):  
Jusuk Lee ◽  
Taehong Kim

Abstract Background Understanding the relationship between breastfeeding (BF) and metabolic syndrome (Mets) is important for maternal long-term health benefits and disease prevention. This study aimed to examine the association between BF and Mets and its components among postmenopausal parous Korean women. Methods This cross-sectional study on 10,356 Korean women used nationally representative data from the KNHANES from 2010 to 2016. Anthropometric, laboratory data and manual BP were measured. A multivariate logistic regression analysis was conducted to examine the association of BF with Mets and its components after adjusting for potential confounding variables. A p-value < 0.05 was to be considered statistically significant. Results Mets was present in 42% of the study participants. The BF group had low household income and education level. The prevalence of Mets in the BF group was higher than that in the non-BF group (42.69% vs. 34.76%, p <  0.001). BF was associated with increased risk of Mets (odds ratio [OR]: 1.4, 95% confidence interval [CI]: 1.18–1.65, p <  0.001). The BF group was at higher risks for diabetes (OR: 1.5, 95%CI: 1.14–1.98), hypertension (OR: 1.32, 95%CI: 1.03–1.68), hypertriglyceridemia (OR: 1.42, 95%CI: 1.02–1.99) and low high-density lipoprotein cholesterol (OR: 1.32, 95%CI: 1.06–1.65). Conclusion In this study, BF did not affect decreasing the prevalence of Mets and its components.


Author(s):  
Houda Ben Ayed ◽  
Sourour Yaich ◽  
Mariem Ben Hmida ◽  
Maissa Ben Jemaa ◽  
Maroua Trigui ◽  
...  

AbstractObjectivesThis study aimed to estimate the extent of smoking experience among high and middle school adolescents in Southern Tunisia and to delineate its potential associated factors.MethodsWe conducted a cross-sectional study among middle and high school-adolescents in the governorate of Sfax, South of Tunisia in the 2017–2018 school-years. A questionnaire was anonymously administered to a representative sample of 1,210 school-adolescents randomly drawn.ResultsThe mean age of the school-adolescents was 15.6 ± 4.2 years. The prevalence of lifetime smoking was 16.7% (95% CI=[14.7–18.8%]) (boys 32.6%; girls 5.9%;p<0.001). Among the respondents, 13.9% (95% CI=[11.9–15.8%]) were current smokers. In multivariate logistic regression analysis, independent associated factors of current smoking were male gender (Adjusted (AOR)=10.2; p<0.001), 16–17 and 18–19-year age-groups (AOR=2; p=0.005 and AOR=2.6; p=0.001, respectively), below average academic performance (AOR=5.2; p=0.012), divorced parents (AOR=3.9; p=0.007), family monthly income ≥800 dollars (AOR=2.1; p=0.001), having a part time job (AOR=3.9; p<0.001) and a perceived high stress level (AOR=1.98; p=0.008). Secondhand smoke (AOR=1.8; p=0.011) and concomitant alcohol drink (AOR=14.56; p<0.001) were independent predictors of current smoking, while high education level of the father was independently associated with lower prevalence of current smoking (AOR=0.17; p<0.001).ConclusionThe prevalence of lifetime and current smoking were relatively high in Southern Tunisian middle and high schools. Multilevel influences on youth smoking behavior had been identified, which reflected the need to conceive appropriate school interventions and effective antismoking education program.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Carlos Alfonso Romero-Gameros ◽  
Tania Colin-Martínez ◽  
Salomón Waizel-Haiat ◽  
Guadalupe Vargas-Ortega ◽  
Eduardo Ferat-Osorio ◽  
...  

Abstract Background The SARS-CoV-2 pandemic continues to be a priority health problem; According to the World Health Organization data from October 13, 2020, 37,704,153 confirmed COVID-19 cases have been reported, including 1,079,029 deaths, since the outbreak. The identification of potential symptoms has been reported to be a useful tool for clinical decision-making in emergency departments to avoid overload and improve the quality of care. The aim of this study was to evaluate the performances of symptoms as a diagnostic tool for SARS -CoV-2 infection. Methods An observational, cross-sectional, prospective and analytical study was carried out, during the period of time from April 14 to July 21, 2020. Data (demographic variables, medical history, respiratory and non-respiratory symptoms) were collected by emergency physicians. The diagnosis of COVID-19 was made using SARS-CoV-2 RT-PCR. The diagnostic accuracy of these characteristics for COVID-19 was evaluated by calculating the positive and negative likelihood ratios. A Mantel-Haenszel and multivariate logistic regression analysis was performed to assess the association of symptoms with COVID-19. Results A prevalence of 53.72% of SARS-CoV-2 infection was observed. The symptom with the highest sensitivity was cough 71%, and a specificity of 52.68%. The symptomatological scale, constructed from 6 symptoms, obtained a sensitivity of 83.45% and a specificity of 32.86%, taking ≥2 symptoms as a cut-off point. The symptoms with the greatest association with SARS-CoV-2 were: anosmia odds ratio (OR) 3.2 (95% CI; 2.52–4.17), fever OR 2.98 (95% CI; 2.47–3.58), dyspnea OR 2.9 (95% CI; 2.39–3.51]) and cough OR 2.73 (95% CI: 2.27–3.28). Conclusion The combination of ≥2 symptoms / signs (fever, cough, anosmia, dyspnea and oxygen saturation < 93%, and headache) results in a highly sensitivity model for a quick and accurate diagnosis of COVID-19, and should be used in the absence of ancillary diagnostic studies. Symptomatology, alone and in combination, may be an appropriate strategy to use in the emergency department to guide the behaviors to respond to the disease. Trial registration Institutional registration R-2020-3601-145, Federal Commission for the Protection against Sanitary Risks 17 CI-09-015-034, National Bioethics Commission: 09 CEI-023-2017082.


2010 ◽  
Vol 68 (2) ◽  
pp. 179-184 ◽  
Author(s):  
Felipe Kenji Sudo ◽  
Gilberto Sousa Alves ◽  
Carlos Eduardo de Oliveira Alves ◽  
Maria Elisa Lanna ◽  
Letice Ericeira-Valente ◽  
...  

OBJECTIVE: Cerebrovascular disease (CVD) is associated with cognitive deficits. This cross-sectional study examines differences among healthy elderly controls and patients with vascular mild cognitive impairment (VaMCI) and vascular dementia (VaD) in performances on CAMCOG subscales. METHOD: Elderly individuals (n=61) were divided into 3 groups, according to cognitive and neuroimaging status: 16 controls, 20 VaMCI and 25 VaD. VaMCI and VaD individuals scored over 4 points on the Hachinski Ischemic Scale. RESULTS: Significant differences in total CAMCOG scores were observed across the three groups (p<0.001). VaD subjects performed worse than those with VaMCI in most CAMCOG subscales (p<0.001). All subscales showed differences between controls and VaD (p<0.001). Performance on abstract thinking showed difference between VaMCI and controls (p<0.001). CONCLUSION: CAMCOG discriminated controls from VaMCI and VaD. Assessment of abstract thinking may be useful as a screening item for diagnosis of VaMCI.


Author(s):  
Sheikh Mohammed Shariful Islam ◽  
Masudus Salehin ◽  
Sojib Bin Zaman ◽  
Tania Tansi ◽  
Rajat Das Gupta ◽  
...  

Diabetes and chronic kidney disease (CKD) are a major public health burden in low-and-middle-income countries. This study aimed to explore factors associated with CKD in patients with type 2 diabetes (T2D) in Bangladesh. A cross-sectional study was conducted among 315 adults with T2D presenting at the outpatient department of Bangladesh Institute of Health Sciences (BIHS) hospital between July 2013 to December 2013. CKD was diagnosed based on estimated Glomerular Filtration Rate using the &lsquo;Modification of Diet in Renal Disease&rsquo; equations and presence of albuminuria estimated by the albumin-to-creatinine ratio. Multivariate logistic regression analysis was used to determine the factors associated with CKD. The overall prevalence of CKD among patients with T2D was 21.3%. In the unadjusted model Factors associated with CKD were: aged 40-49 years (OR: 5.7, 95% CI: 1.3-25.4), age 50-59 years (7.0, 1.6-39), age &ge;60 years (7.6, 1.7-34); being female (2.2, 1.2-3.8), hypertensive (1.9, 1.1-3.5) and household income between 128.2-256.4 US$ (2.9, 1.0-8.2) compared with income &le;128.2$. However, after adjustment of other covariates, only duration of hypertension and household income (128.2-256.4 US$) remained statistically significant. There is a need to implement policies and programs for early detection and management of hypertension and CKD in T2D patients in Bangladesh.


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