scholarly journals Identification of a shared, common haplotype cosegregating with an SGCB c.544A>C mutation in Indian patients affected with sarcoglycanopathy

2021 ◽  
Author(s):  
Shamita Sanga ◽  
Sudipta Chakraborty ◽  
Mainak Bardhan ◽  
Atchayaram Nalini ◽  
Moulinath Acharya
Keyword(s):  
Data File ◽  
Population History ◽  
Control Group ◽  
Linkage Data ◽  
Case Group ◽  
Homozygous Mutation ◽  
Common Haplotype ◽  
Related Family ◽  
Recent Developments ◽  
R Programming

Background Sarcoglycanopathies (SG) is the most frequent form of autosomal recessive limb-girdle muscular dystrophies (LGMD) leading to progressive muscle wasting and weakness, predominantly characterized by limb-girdle weakness. LGMDR4 is caused by mutations in SGCB encoding for the beta-sarcoglycan proteins. In this study, we describe a shared, common haplotype cosegregating in 14 SG cases from 13 unrelated families with the likely pathogenic homozygous mutation c.544A>C (p.Thr182Pro) in SGCB. Methods The genotypes of five selected markers (rs10009426, rs6824707, rs2271046, rs35414474 and rs17611952) surrounding the c.544A>C (p.Thr182Pro) were extracted from the variant call format (VCF) generated from whole-exome sequencing (WES) of 14 cases and 14 related family members as controls. The linkage data file was constructed and linkage disequilibrium (LD) plots were generated using HaploView to visualize patterns of LD. Further, haplotype reconstructions based on the 6 markers were conducted using PLINK1.9. using the expectation-maximization (EM) algorithm, an iterative method to find maximum likelihood. Subsequently, the R programming language was used to determine and compare plots of the haplotype frequencies and percentages for both groups to infer the risk haplotypes. Results Four strong LD blocks were identified in control group: rs10009426 to rs6824707 (0.27 kb), rs6824707 to rs2271046 (41.6 kb), rs10009426 to rs2271046 (41.8 kb) and rs35414474 to rs17611952 (0.17 kb) which were absent in the case group. Similarly, a total of nine haplotypes were estimated in cases and controls of which haplotype H1= G, A, T, G, G, T showed significant statistical difference in the frequency between cases and controls. H1 is also observed to cosegregate with c.544A>C (p.Thr182Pro) in the pedigrees of all the cases. Conclusion The identification of c.544A>C (p.Thr182Pro) mutation in 14 cases from India indicates a probable event of founder effect. Further, the H1 haplotype, cosegregating with this mutation, convincingly sheds light on the recent developments in population genetics allowing insights into demographic and population history. This haplotype can also be used as a genetic marker to screen individuals with genetic susceptibility as carriers and provide genetically informed risk stratification and management in the prevention of SG.

HUBUNGAN TUNGAU DEBU RUMAH, PAPARAN ASAP ROKOK DAN RIWAYAT PENYAKIT KELUARGA TERHADAP KEJADIAN ASMA BRONKIAL PADA ANAK USIA 5 – 10 TAHUN DI WILAYAH KERJA PUSKESMAS LEMPAKE KOTA SAMARINDA TAHUN 2016

2018 ◽  
Vol 3 (1) ◽  
pp. 1
Author(s):  
Sri Evi New Yearsi Pangadongan ◽  
Agustina Rahyu ◽  
Selvy Pasulu
Keyword(s):  
Cigarette Smoke ◽  
Bronchial Asthma ◽  
Sampling Technique ◽  
Total Sample ◽  
Control Group ◽  
Case Group ◽  
Chi Square ◽  
History Of ◽  
Weather Changes ◽  
And Gender

Bronchial Asthma generally starts from childhood which is condition where respiration channel experiences constriction because of hyperactivity with some specific stimulation which cause inflammation. Some risk factors are smoking exposure of cigarette smoke, weather changes, mite on house dirt, pet and history of family sickness. The purpose of this research is to know Relation of mite on house dirt, exposure of cigarette smoke  and history of family sickness with bronchial asthma incident to child 5 – 10  years old on working area of Puskesmas Lempake Samarinda City in 2016. Method which used was analytic survey with Case Control approaching. The total sample was 36 children which consisted of 18 case group and 18 control group with matching by using age and gender which submitted with Purposive Sampling technique. Data Analysis used Chi Square with wrong degree α = 0,005. The result showed that there was relation of mite of house dirt (p = 0,006), history of family sickness (p = 0,001) and no relation with exposure of cigarette smoke (p = 0,370) with bronchial asthma incident to child 5 – 10 years old on working area of Puskesmas Lempake Samarinda City in 2016.

Faktor-Faktor Determinan yang melatar belakangi Kehamilan Remaja di Desa Pandansari Kecamatan Poncokusumo Kabupaten Malang

2020 ◽  
Vol 7 (2) ◽  
pp. 247-255
Author(s):  
Maria Magdalena Setyaningsih ◽  
Emy Sutiyarsih
Keyword(s):  
Sex Education ◽  
Teen Pregnancy ◽  
Teenage Pregnancy ◽  
Well Being ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
The Family ◽  
History Of ◽  
First Time

Kehamilan remaja adalah kehamilan yang terjadi pada remaja berusia kurang dari 20 tahunan. Kehamilan remaja memberikan banyak kerugian bagi kesehatan, mental dan psikologis, kesejahteraan ekonomi dan peluang karier, kemiskinan dan prospek kehidupan masa depan remaja. Tujuan penelitian mengidentifikasi faktor determinan yang melatarbelakangi terjadinya kehamilan remaja. Jenis penelitian adalah penelitian analitik kategorik jenis survei kuantitatif dengan desain case control. Populasi semua perempuan yang bertempat tinggal di wilayah dusun Wonosari, Sukosari, dan Krajan Pandansari dan pernah/sedang hamil pertama kali pada usia kurang dari 20 tahun. Teknik pengambilan sampel cluster random sampling besar sampel 73. Berdasarkan hasil model akhir analisis multivariat, diketahui bahwa variabel pendidikan, riwayat kehamilan remaja pada keluarga dan usia menikah merupakan variabel yang berhubungan dengan kejadian kehamilan remaja setelah dikontrol oleh variabel akses informasi, responden berpendidikan rendah memiliki peluang 20,8 kali lebih tinggi, responden yang memiliki riwayat kehamilan remaja pada keluarga memiliki peluang 14,9 kali lebih tinggi, responden yang menikah pada usia <20 tahun memiliki peluang 12,1 kali lebih tinggi, responden dengan pemahaman yang kurang baik terkait penggunaan kondom memiliki peluang 5,9 kali lebih tinggi untuk terjadi kehamilan remaja. Oleh karena itu perlu dibangun karakter buiding, sosial karakter suport untuk para ibu remaja dan keluarga sehingga terbangun interaksi yang baik dalam keluarga yang dilandasi dengan pendidikan dan pemahaman yang baik tentang Pendidikan seksualitas. Teen pregnancy is a pregnancy that occurs in adolescents aged less than 20 years old. Teen pregnancy provides many disadvantages for health, mental, psychological, economic well-being, career opportunities, poverty, and the future life. The aim of the study was to identify the determinants underlying teen pregnancy incidence. This study was a quantitative study with categorical analytic method. The study design used a case control with two comparison groups. The groups were control group and case group. The population in this study was all women who lived in the Wonosari, Sukosari, and Krajan Pandansari district and had or were pregnant for the first time at the age of less than 20 years old. Seventy three respondents were recruited using cluster sampling technique. The case group consists of women who were or had pregnant for the first time at the age of less than 20 years old and their children are currently aged ≤ 1 years old. The control group consists of women who were pregnant for the first time at the age of > 20 years old. The data was collected using a questionnaire. The findings showed that education, history of teen pregnancy in family and the age of marriage were related to the incidence of teen pregnancy after being controlled by information access. Low-educated respondents had 20.8 times higher chance of experiencing teen pregnancy; respondents with a history of teen pregnancy in the family had 4.9 times higher chance of experiencing teen pregnancy; respondents who were married at the age of < 20 years old had 12.1 times higher chance of experiencing teen pregnancy; respondents with poor understanding of condom use had 5.9 times higher chance of teenage pregnancy. In conclusion, the findings suggest to build good interactions in the family based on education and a good understanding of sex education.

Berat Badan, Panjang Badan dan Faktor Genetik sebagai Prediktor Terjadinya Stunted pada Anak Sekolah

2017 ◽  
Vol 19 (2) ◽  
pp. 95
Author(s):  
Hetriana Leksananingsih ◽  
Slamet Iskandar ◽  
Tri Siswati
Keyword(s):  
Birth Weight ◽  
Nutritional Status ◽  
School Children ◽  
Genetic Factors ◽  
Control Group ◽  
Case Group ◽  
Normal Birth Weight ◽  
Chi Square ◽  
Normal Birth ◽  
Chi Square Test

Background: Riskesdas in 2013 showed that Yogyakarta (DIY) had a prevalence of stunted new kid in school is less than the national average, which is 14.9% (MOH, 2013). Stunted or short, is a linear growth retardation has been widely used as an indicator to measure the nutritional status of individuals and community groups. Stunted can be influenced by several factors: birth weight, birth length match and genetic factors. Objective: To determine the weight, length of low birth weight and genetic factors as predictors of the occurrence of stunted on elementary school children. Methods: The study was a case control analytic. Research sites in SD Muhammadiyah Ngijon 1 Subdistrict Moyudan. The study was conducted in May and June 2015. The subjects were school children grade 1 to grade 5 the number of cases as many as 47 children and 94 control children. With the inclusion criteria of research subjects willing to become respondents, was present at the time of the study, they have a father and mother, and exclusion criteria have no data BB and PB birth, can not stand upright. The research variables are BBL, PBL, genetic factors and TB / U at this time. Data were analyzed by chi-square test and Odd Ratio (OR) calculation. Results: In case group as much as 91.5% of normal birth weight and length of 80.9% of normal birth weight, most of the height of a normal mother and father as many as 85.1%. In the control group as much as 78.7% of normal birth weight and 61.7% were born normal body length, height mostly normal mom and dad that 96.7% of women and 90.4% normal normal father. Statistical test result is no significant correlation between height mothers with stunted incidence in school children, and the results of chi-square test P = 0.026 with value Odd Ratio (OR) of 3.9 and a range of values from 1.091 to 14.214 Cl95%. Conclusion: High maternal body of mothers can be used as predictors of the occurrence of stunted school children and mothers with stunted nutritional status have 3.9 times the risk of having children with stunted nutritional status.

Impact of Physical Activity on the Incidence of Vascular Diseases in Adults with Type 2 Diabetes Mellitus

2019 ◽  
Vol 8 ◽  
pp. 1549
Author(s):  
Babak Pezeshki ◽  
Ehsan Bahramali ◽  
Amir Ansari ◽  
Aliasghar Karimi ◽  
Mojtaba Frajam ◽  
...  
Keyword(s):  
Physical Activity ◽  
Diabetes Mellitus ◽  
Vascular Function ◽  
Vascular Diseases ◽  
Major Complication ◽  
Control Group ◽  
Case Group ◽  
Vascular Events ◽  
The Relationship

Background: Diabetes mellitus (DM) is a common metabolic disease worldwide and has many complications. The vascular events are the major complication of DM that have an important effect on mortality and disability. The physical activity (PA) enhances the vascular function by several pathways. The aim of this study was to evaluation of the relationship between PA and vascular diseases in patients with DM.Materials and Methods: This research was performed as the case-control study that was extracted from a prospective epidemiological research study in Iran (PERSIAN). The patients with type 2 DM more than six months defined as case group and the non-DM subjects in control group with ratio 1:2, and both groups were matched in the term of age and sex. The MET score was used to evaluate the level of PA and blood glucose, lipid profile, body mass index, overweight, dyslipidemia, glomerular filtration rate, myocardial infarction (MI), unstable angina, and stroke.Results: Overall, 1242 patients with DM were extracted, and 2484 non-diabetic subjects were investigated. In the case group, 355(28.6 %) and 887(71.4%) were men and women, respectively, the and 710 (28.6%) men and 1774(71.4%) women in control group. The mean MET score was 30 and 40.97 in the DM and non-DM groups, respectively (P˂0.001). The frequency of MI, stroke, and cardiac ischemia were 44 (3.5%), 37 (3%), and 267 (21.5%), respectively in DM group, and 54 (2.2%), 43 (1.7%), and 389 (15.7%), respectively in non-DM group.Conclusion: The incidence of vascular events associated with PA level in patients with DM and adherence to regular PA reduce the vascular events and DM complications. [GMJ.2019;inpress:e1549]

Risk Factors of Recurrent Ischemic Events after Acute Noncardiogenic Ischemic Stroke

2020 ◽  
Vol 25 (45) ◽  
pp. 4827-4834 ◽  
Author(s):  
Limin Zhang ◽  
Xingang Li ◽  
Dongzhi Wang ◽  
Hong Lv ◽  
Xuezhong Si ◽  
...  
Keyword(s):  
Risk Factors ◽  
Logistic Regression ◽  
Regression Analysis ◽  
Ischemic Stroke ◽  
Operating Characteristic ◽  
Control Group ◽  
Case Group ◽  
Stroke Patients ◽  
Clopidogrel Therapy ◽  
Ischemic Events

Background: A considerable proportion of acute noncardiogenic ischemic stroke patients continue to experience recurrent ischemic events after standard therapy. Aim: We aimed to identify risk factors for recurrent ischemic event prediction at an early stage. Methods : 286 non-cardioembolic ischemic stroke patients with the onset of symptoms within 24 hours were enrolled. Vascular risk factors, routine laboratory data on admission, thromboelastography test seven days after clopidogrel therapy and any recurrent events within one year were assessed. Patients were divided into case group (patients with clinical adverse events, including ischemic stokes, transient ischemic attack, myocardial infarction and vascular related mortality) and control group (events-free patients). The risk of the recurrent ischemic events was determined by the receiver operating characteristic curve and multivariable logistic regression analysis. Results: Clinical adverse events were observed in 43 patients (case group). The mean levels of Mean Platelet Volume (MPV), Platelet/Lymphocyte Ratio (PLR), Lymphocyte Count (LY) and Fibrinogen (Fib) on admission were significantly higher in the case group as compared to the control group (P<0.001). Seven days after clopidogrel therapy, the ADP-induced platelet inhibition rate (ADP%) level was lower in the case group, while the Maximum Amplitude (MA) level was higher in the case group as compared to the control group (P<0.01). The Area Under the Curve (AUC) of receiver operating characteristic(ROC) curve of LY, PLR, , Fib, MA, ADP% and MPV were 0.602, 0.614, 0.629, 0.770, 0.800 and 0.808, respectively. The logistic regression analysis showed that MPV, ADP% and MA were indeed predictive factors. Conclusion: MPV, ADP% and MA were risk factors of recurrent ischemic events after acute noncardiogenic ischemic stroke. Urgent assessment and individual drug therapy should be offered to these patients as soon as possible.

scholarly journals The Predictive Value of the Mother’s Risk Factors in Formation of Fetal Developmental Delay

2021 ◽  
Vol 8 ◽  
pp. 2333794X2199914
Author(s):  
Maka Chigladze
Keyword(s):  
Risk Factors ◽  
Pregnant Women ◽  
Predictive Value ◽  
Negative Impact ◽  
Deficiency Anemia ◽  
Control Group ◽  
Case Group ◽  
Retrospective Case ◽  
Standards Of Living ◽  
Poor Nutrition

The research aimed at studying the mother’s social-hygienic and medical biological risk factors and determining their predictive value. The retrospective case-control study was conducted with 142 pregnant women participating in it. In the case group there were involved 92 mothers whose pregnancy was completed by the birth of a newborn baby suffering from the intrauterine growth restriction. The control group was made of 50 pregnant women, whose pregnancy was completed by the birth of a healthy neonate. The research resulted in specifying the risk factors of high priority: the low standards of living (OR 3.61), chronic stress (OR-3.06), sleeping disorder (OR-3.33) and poor nutrition (OR-3.81). As regards the coexisting pathology the following was revealed: endocrine pathology (OR-3.27), ischemic heart disease (OR-4.35), arterial hypertension (OR-6.47), iron deficiency anemia (OR-4.11), pathology of respiratory system (OR-3.42), chronic genital inflammatory and infectious processes. The preeclampsia (92%) and low amniotic fluid (89%) were detected to have the high predictive value. The awareness of risk factors allows us to employ the timely measures for the reduction of negative impact on the fetus and neonate.

scholarly journals Analysis of Circulating microRNA Signatures and Preeclampsia Development

Cells ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 1003
Author(s):  
Margarita L. Martinez-Fierro ◽  
Idalia Garza-Veloz
Keyword(s):  
Pregnant Women ◽  
Expression Profiling ◽  
Gene Prediction ◽  
Microrna Expression ◽  
Differentially Expressed ◽  
Control Group ◽  
Case Group ◽  
Circulating Microrna ◽  
Activated T Cells ◽  
Serum Microrna

microRNAs are important regulators of cell processes and have been proposed as potential preeclampsia biomarkers. We evaluated serum microRNA expression profiling to identify microRNAs involved in preeclampsia development. Serum microRNA expression profiling was evaluated at 12, 16, and 20 weeks of gestation (WG), and at the time of preeclampsia diagnosis. Two groups were evaluated using TaqMan low-density array plates: a control group with 18 normotensive pregnant women and a case group with 16 patients who developed preeclampsia during the follow-up period. Fifty-three circulating microRNAs were differentially expressed between groups (p < 0.05). Compared with controls, hsa-miR-628-3p showed the highest relative quantity values (at 12 WG = 7.7 and at 20 WG = 3.45) and the hsa-miRs -151a-3p and -573 remained differentially expressed from 16 to 20 WG (p < 0.05). Signaling pathways including cancer-related, axon guidance, Neurotrophin, GnRH, VEGF, and B/T cell receptor, were most commonly altered. Further target gene prediction revealed that nuclear factor of activated T-cells 5 gene was included among the transcriptional targets of preeclampsia-modulated microRNAs. Specific microRNAs including hsa-miRs -628-3p, -151a-3p, and -573 were differentially expressed in serum of pregnant women before they developed preeclampsia compared with controls and their participation in the preeclampsia development should be considered.

scholarly journals Association of interleukin-17A rs2275913 polymorphism with rheumatoid arthritis susceptibility in Sudanese population

2021 ◽  
Vol 9 ◽  
pp. 205031212110202
Author(s):  
Rgda Mohamed Osman ◽  
Mounkaila Noma ◽  
Abdallah Elssir Ahmed ◽  
Hanadi Abdelbagi ◽  
Rihab Ali Omer ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Confidence Interval ◽  
Statistical Tests ◽  
Demographic Data ◽  
Control Group ◽  
P Value ◽  
Case Group ◽  
Molecular Technique ◽  
Interleukin 17A ◽  
Significant Difference

Objectives: Rheumatoid arthritis is a chronic inflammatory autoimmune disease. This study aimed to determine the association of interleukin-17A-197G/A polymorphism with rheumatoid arthritis in Sudanese patients. Methods: A case–control study was conducted between March and December 2018. Clinical and demographic data of the study participants were collected and analyzed. Polymerase chain reaction restriction fragment length polymorphism molecular technique was done to investigate interleukin-17A-197G/A polymorphisms. All statistical tests were considered statistically significant when p < 0.05. Results: The study population included 266 participants aged between 1 and 85 years, with an average of 40 years, classified into 85 (31.2%) cases (mean age 48.5 ± 11.3 years), and 181 (68.8%) controls (mean age 35.3 ± 15.9 years). The interleukin-17A homozygote AA genotype was more frequent among the control group compared to the case group; 95 (52.5%) and 7 (8.2%), respectively. The homozygote GG and the heterozygote AG genotypes were proportionally not different among the cases and control groups; 13 (54.2%) and 11 (45.8%), and 65 (46.4%) and 75 (53.6%), respectively. According to the distribution of interleukin-17A genotypes, a statistically significant difference was observed among cases with the interleukin-17A AA and AG genotypes, p values 0.001 and 0.004, respectively. For the association interleukin-17A genotypes and family history a negatively significant association was reported (95% confidence interval, –0.219, p value = 0.001). There was also a negatively significant association of interleukin-17A genotypes and anti-cyclic citrullinated peptide (95% confidence interval, −0.141, p value = 0.002). Conclusion: This study is the first study in Sudan established the association between interleukin-17A-197G/A (rs2275913) polymorphisms and susceptibly to rheumatoid arthritis. These findings appeal for further research in Sudan to investigate the exact role of IL-17A in immunopathology and disease severity among Sudanese rheumatoid arthritis

scholarly journals Relationship of Hydroxychloroquine and Ophthalmic Complications in Patients with Type 2 Diabetes in Taiwan

2021 ◽  
Vol 18 (15) ◽  
pp. 8154
Author(s):  
Hung-Chih Chen ◽  
Hung-Yu Lin ◽  
Michael Chia-Yen Chou ◽  
Yu-Hsun Wang ◽  
Pui-Ying Leong ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Conditional Logistic Regression ◽  
Categorical Variables ◽  
Control Group ◽  
Case Group ◽  
Research Database ◽  
Continuous Variables ◽  
Chi Square ◽  
Increased Risk

The purpose of this study is to evaluate the relationship between hydroxychloroquine (HCQ) and diabetic retinopathy (DR) via the national health insurance research database (NHIRD) of Taiwan. All patients with newly diagnosed type 2 diabetes (n = 47,353) in the NHIRD (2000–2012) were enrolled in the study. The case group consists of participants with diabetic ophthalmic complications; 1:1 matching by age (±1 year old), sex, and diagnosis year of diabetes was used to provide an index date for the control group that corresponded to the case group (n = 5550). Chi-square test for categorical variables and Student’s t-test for continuous variables were used. Conditional logistic regression was performed to estimate the adjusted odds ratio (aOR) of DR. The total number of HCQ user was 99 patients (1.8%) in the case group and 93 patients (1.7%) in the control group. Patients with hypertension (aOR = 1.21, 95% CI = 1.11–1.31) and hyperlipidemia (aOR = 1.65, 95% CI = 1.52–1.79) significantly increased the risk of diabetic ophthalmic complications (p < 0.001). Conversely, the use of HCQ and the presence of rheumatoid diseases did not show any significance in increased risk of DR. HCQ prescription can improve systemic glycemic profile, but it does not decrease the risk of diabetic ophthalmic complications.

scholarly journals Correlation of methylation status in MTHFR promoter region with recurrent pregnancy loss

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Mai Mahmoud Shaker ◽  
Taghreed Abdelmoniem shalabi ◽  
Khalda said Amr
Keyword(s):  
Dna Methylation ◽  
Dna Sequences ◽  
Promoter Region ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Methylation Status ◽  
Control Group ◽  
Case Group ◽  
Methyl Radical ◽  
Fertile Women

Abstract Background DNA methylation is an epigenetic process for modifying transcription factors in various genes. Methylenetetrahydrofolate reductase (MTHFR) stimulates synthesis of methyl radical in the homocysteine cycle and delivers methyl groups needed in DNA methylation. Furthermore, numerous studies have linked gene polymorphisms of this enzyme with a larger risk of recurrent pregnancy loss (RPL), yet scarce information is available concerning the association between epigenetic deviations in this gene and RPL. Hypermethylation at precise DNA sequences can function as biomarkers for a diversity of diseases. We aimed by this study to evaluate the methylation status of the promoter region of MTHFR gene in women with RPL compared to healthy fertile women. It is a case–control study. Hundred RPL patients and hundred healthy fertile women with no history of RPL as controls were recruited. MTHFR C677T was assessed by polymerase chain reaction-restriction fragment length polymorphism (RFLP). Quantitative evaluation of DNA methylation was performed by high-resolution melt analysis by real-time PCR. Results The median of percentage of MTHFR promoter methylation in RPL cases was 6.45 [0.74–100] vs. controls was 4.50 [0.60–91.7], P value < 0.001. In the case group, 57 hypermethylated and 43 normo-methylated among RPL patients vs. 40 hypermethylated and 60 normo-methylated among controls, P< 0.005. Frequency of T allele in C677T MTHFR gene among RPL patients was 29% vs. 23% among the control group; C allele vs. T allele: odds ratio (OR) = 1.367 (95% confidence interval (CI) 0.725–2.581). Conclusion Findings suggested a significant association between hypermethylation of the MTHFR promoter region in RPL patients compared to healthy fertile women.

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