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1.
Insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene was analyzed in patients with non-insulin-dependent diabetes mellitus (NIDDM) and in the control group consisting of healthy subjects. The insertion allele (I) and genotype II were found to be associated with NIDDM. The frequencies of diabetic retinopathy and nephropathy in NIDDM patients were not associated with this polymorphism. However, an association was found between the DD genotype of the ACE gene and diabetic angiopathy in lower extremities.  相似文献   

2.
阻塞性睡眠呼吸暂停综合征临床监测分析   总被引:1,自引:0,他引:1  
程玮  杨梦雨  闫堃 《现代生物医学进展》2007,7(12):1856-1857,1860
目的:探讨阻塞性睡眠呼吸暂停综合征患者的临床特征及评价疗效。方法:回顾分析70例阻塞性睡眠呼吸暂停综合征患者PSG监测数据。结果:随着呼吸紊乱指数的增加,年龄、体重指数、最长呼吸暂停时间、最低SaO_2%、平均SaO_2%下降等指标在轻度与中、重度SAS之间差异显著;70例患者中伴有高血压52.9%、糖尿病5.7%、冠心病21.4%。结论:OSAS是一种具有潜在危险的疾痛,对OSAS早期诊断治疗是预防发生严重并发症的关键。  相似文献   

3.
Angiotensin converting enzyme (ACE) plays an essential role in the renin–angiotensin system. It converts angiotensin I to angiotensin II and inactivates bradykinin and tachykinins. Numerous studies have been published investigating associations of the ACE gene I/D polymorphism with various pathophysiological conditions. We examined the prevalence of the ACE I/D polymorphism in a sample of healthy volunteers from western Turkey, including 1063 healthy Turkish controls. Analysis of the ACE I/D gene polymorphisms by polymerase chain reaction found frequencies of 16.1% for the II genotype, 47.7% for the ID genotype, and 36.2% for the DD genotype. The allele frequency was 39.9% for the I alleles and 60.1% for the D allele. This study demonstrates that the allele and genotype frequency values for the Turkish population are similar to previously published frequencies for Caucasian populations.  相似文献   

4.

Background

Many studies have investigated the association between the angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and risk of ischemic stroke. However, the evidence is inadequate to draw robust conclusions because most studies were generally small and conducted in heterogeneous populations. To shed light on these inconclusive findings, we conducted a large meta-analysis of studies relating the ACE I/D polymorphism to the risk of ischemic stroke.

Methods

Relevant studies were identified by searching PubMed and Embase through February 2012 and by reviewing the references of retrieved articles. We included studies that reported odds ratio (OR) with 95% confidence interval (CI) for the association between this polymorphism and ischemic stroke risk.

Results

Fifty independent publications, with 10 070 stroke cases and 22 103 controls, were included. The results indicated that the DD homozygote carriers had a 37% higher risk of ischemic stroke when compared with the homozygotes II and heterozygote ID [odds ratio (OR) = 1.37, 95% confidence interval (CI): 1.22–1.53]. Subgroup analyses indicated that this higher risk was more pronounced among Asians, hospital-based studies, and small vessel disease (SVD). Potential publication bias may exist, but correction for this bias using a formal statistical method did not materially alter the combined risk estimate.

Conclusion

The results of our meta-analysis indicate that the D allele of ACE I/D polymorphism is a low-penetrance susceptibility marker of ischemic stroke.  相似文献   

5.
The obstructive sleep apnea syndrome is a disorder of sleep and breathing that is being recognized with increasing frequency. The pathophysiologic consequences range from mild sleepiness to life-threatening cardiovascular and respiratory decompensation. The primary forms of treatment are directed at modifying the upper airway with either an operation or continuous positive airway pressure. Aside from tracheostomy, which is virtually always successful, other forms of treatment have met with varying results. Ancillary therapy, including oxygen, weight loss and drugs, is often helpful but seldom curative. Follow-up sleep studies are necessary to evaluate the effectiveness of treatment. Selecting therapy for a patient with obstructive sleep apnea requires a comprehensive evaluation including polysomnography, special examinations of the upper airway and assessing the cardiopulmonary status. Therapy is based on the severity of disease and must be tailored to each patient.  相似文献   

6.
飞行员中血管紧张素转换酶基因插入或缺失多态性研究   总被引:4,自引:0,他引:4  
为了解飞行员血管紧张素转换酶(ACE)基因插入或缺失(I/D)多态性情况,探讨ACE基因多态性与飞行员耐力可能的关系,用聚合酶链反应(PCR)扩增技术检测118例飞行员和96例健康对照者的ACE基因I/D多态性。 结果位于ACE基因内含子16的I/D多态性经PCR扩增后呈三种基因型:纯合子插入型(II)、纯合子缺失型(DD)和杂合子插入或缺失型(I/D)。飞行员组II基因型(44.07%)和I等位基因频率(0.65)显著高于健康对照组(分别为31.25%和0.52)。 结果表明ACE I基因有可能在飞行员的飞行耐力中起重要作用。 Abstract:In order to understand insertion/delation (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene in pilots,and to explore the relationship between ACE gene I/D polymorphism and the perfomance of the pilots,the polymerase chain reaction (PCR) was used to determine the genotypes for an I/D polymorphism in intron 16 of the ACE gene in 118 pilots and 96 healthy subjects as controls.The result showed that the I/D polymorphism in intron 16 of the ACE gene was categorized into three genotypes: two deletion alleles (genotype DD),heterozygous alleles (genotype ID),and two insertion alleles (genotype II).The genotype II and I allele frequency were significantly higher in pilots (44.07% and 0.65) than that in healthy subjects (31.25% and 0.52).It is suggested that I gene of ACE may play a role in perfomance of the pilots.  相似文献   

7.
目的:评价在常规手术治疗的基础上联用心理干预措施治疗OSAS的效果.方法:50例OSAS患者随机分为对照组和观察组,对照组采用常规手术治疗,观察组在此基础上,联用心理干预措施.对两组患者的焦虑自评量表(SAS)、抑郁自评量表(SDS)、李克特量问卷调查表评分进行比较.结果:治疗前两组SAS、SDS评分差异不显著,有可比性.治疗后观察组SAS评分为(35.15±6.12)分,明显低于对照组(44.28±7.39)分,具有显著差异(t=4.7576,P<0.001,见表1);治疗后观察组SDS评分为(37.59±6.34)分,明显低于对照组(42.75±5.69)分,具有显著差异(t=3.0286,P<0.01,见表1).观察组总满意率为76.00%明显高于对照组的总满意率40.00%,差异显著,具有统计学意义(χ2=6.6502,P<0.01,见表2).结论:在采用常规手术治疗的基础上联用了心理干预措施治疗OSAS的方式有明显效果,建议临床上进一步推广.  相似文献   

8.
Impaired hypoglycemia awareness affects approximately 25% of all patients with type 1 diabetes (T1DM). Duration of diabetes and tight glycemic control represent main risk factors of impaired hypoglycemia awareness. However, even among patients with good glycemic control and longstanding T1DM, awareness of hypoglycemia may be intact. Genetic factors might explain some of this remaining variability. Recently, the insertion/deletion ( I/ D) polymorphism in angiotensin converting enzyme gene ( ACE) was shown to be associated with significantly higher risk of hypoglycemic events in subjects with T1DM. Here, we studied the effects of genetic polymorphisms in the ACE on impaired hypoglycemia awareness in 231 Caucasian T1DM patients. Hypoglycemia awareness status was determined using standardized questionnaires (Clarke et al. and Edinburgh Hypoglycemia Scale). ACE I/ D genotype was determined by PCR amplification of the respective fragments from intron 16 of the ACE and size fractionation (I allele frequency=0.49; P=0.74 for Hardy-Weinberg equilibrium). In the logistic regression analysis, significant risk factors of impaired hypoglycemia awareness were duration of diabetes, C-peptide and HbA (1c) (all P<0.01). However, no significant effect of the I/ D polymorphism on impaired hypoglycemia awareness was observed with and without adjustment for age, diabetes duration, C-peptide and HbA (1c). Even though the study provides a relatively large dataset, it is possible that small differences may have been missed.  相似文献   

9.

Study Objectives

1) To investigate the impact of acetazolamide, a drug commonly prescribed for altitude sickness, on cortical oscillations in patients with obstructive sleep apnea syndrome (OSAS). 2) To examine alterations in the sleep EEG after short-term discontinuation of continuous positive airway pressure (CPAP) therapy.

Design

Data from two double-blind, placebo-controlled randomized cross-over design studies were analyzed.

Setting

Polysomnographic recordings in sleep laboratory at 490 m and at moderate altitudes in the Swiss Alps: 1630 or 1860 m and 2590 m.

Patients

Study 1: 39 OSAS patients. Study 2: 41 OSAS patients.

Interventions

Study 1: OSAS patients withdrawn from treatment with CPAP. Study 2: OSAS patients treated with autoCPAP. Treatment with acetazolamide (500–750 mg) or placebo at moderate altitudes.

Measurements and Results

An evening dose of 500 mg acetazolamide reduced slow-wave activity (SWA; approximately 10%) and increased spindle activity (approximately 10%) during non-REM sleep. In addition, alpha activity during wake after lights out was increased. An evening dose of 250 mg did not affect these cortical oscillations. Discontinuation of CPAP therapy revealed a reduction in SWA (5–10%) and increase in beta activity (approximately 25%).

Conclusions

The higher evening dose of 500 mg acetazolamide showed the “spectral fingerprint” of Benzodiazepines, while 250 mg acetazolamide had no impact on cortical oscillations. However, both doses had beneficial effects on oxygen saturation and sleep quality.  相似文献   

10.
目的:探讨儿童阻塞性睡眠呼吸暂停/低通气综合征(OSAHS)与肥胖的相关性。方法:收集单纯性肥胖儿童120例和体重正常儿童110例作为研究对象,进行统一的体格检查和专科检查,并进行多导睡眠监测记录阻塞性呼吸暂停指数(OAI)、呼吸暂停/低通气指数(AHI)、中枢性呼吸暂停指数(CAI)、最低血氧饱和度(LSa O2)和睡眠效率。结果:肥胖组OSAHS患病率为58.33%显著高于对照组的31.82%,差异有统计学意义(P0.05);OAI、AHI、CAI均显著高于对照组,而LSa O2、睡眠效率指标显著低于对照组,差异均有统计学意义(均P0.05);多因素回归分析显示,肥胖、扁桃体增生、腺样体增生是导致OSAHS的独立危险因素,差异有统计学意义(均P0.05)。结论:肥胖是儿童OSAHS发病的重要影响因素,特别是合并扁桃体肿大或腺样体肿大的患儿应注意预防OSAHS的发生。  相似文献   

11.
An association between insertion/deletion polymorphism (IDP) of the Alu repeat in intron 16 of the angiotensin I-converting enzyme (ACE) gene and the serum free amino acid levels in the patients with connective tissue dysplasias was examined. Genotyping of 102 patients (25 II, 51 ID, and 26 DD) was performed using PCR. Serum free amino acids levels in these patients were determined by use of HPLC technique. A statistically significant increase of the leucine–isoleucine (P< 0.05) and phenylalanine (P < 0.01) levels in deletion homozygous patients (DD) relative insertion homozygous (II) patients was observed. The differences in respect of other amino acids were not detected. These findings point to the importance of registration of IDP in the ACE gene at dietary therapy of such patients, as well as in the individual choice of medical preparations containing the amino acids mentioned.  相似文献   

12.
Studies have investigated the association between angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and cardiometabolic risk factors (CMRFs), however with varying results, which could be due to ethnicity differences. Therefore, the present study was conducted among Bhil tribal population (a mendelian population with the common gene pool and same sociocultural attributes), residing in two different environmental settings. The study attempts to understand the distribution and extent of association of ACE I/D gene polymorphism with cardiometabolic risk factors among Bhils from rural and urban settings. All the obesity and blood pressure variables were collected form 432 recruited subjects from both sexes aged 25–65 years and ACE I/D polymorphism was analysed on 299 subjects. Almost all the studied CMRFs were found to be significantly higher among urban Bhils. ACE gene was found to be polymorphic in the studied groups. DD genotype was found to pose more than threefold significant risk for low HDLC only in rural area. Estimate change analysis revealed an increasing D allele dose leads to more than one unit increase in Blood Pressure, and more than three units decrease in HDLC. The study highlights the differential effect of ACE I/D gene polymorphism in different environmental settings.  相似文献   

13.
《Endocrine practice》2014,20(3):244-251
ObjectiveSome studies have shown a higher prevalence of nonalcoholic fatty liver disease (NAFLD) and obstructive sleep apnea (OSA) in patients with polycystic ovary syndrome (PCOS). The objective of this study was to assess NAFLD in PCOS women with and without OSA. A possible role of high serum androgen levels in the development of OSA in PCOS women was also investigated.MethodsBiochemical, hormonal, and polysomnography parameters were determined in 38 premenopausal PCOS patients. NAFLD was evaluated by ultrasound. Testosterone was measured by an immunoassay.ResultsSerum androgen levels and the prevalence of NAFLD (83.3% vs. 26.9%; P < .001) were higher in patients with OSA than those without OSA. The mean apnea-hypopnea index (AHI) was higher in patients with NAFLD than in those without NAFLD (16.87 events [ev]/h vs. 1.57 ev/h; P < .002). On multivariate logistic regression, where body mass index ≥ 30 kg/m2, homeostasis model assessment for insulin resistance ≥ 2.7, and OSA (AHI ≥ 5 ev/h) were independent variables, only OSA was an independent predictor of NAFLD (odds ratio [OR], 7.63; P = .044). Free testosterone levels ≥ 1.07 ng/dL were also independently associated with OSA (OR, 8.18; P = .023).ConclusionIn PCOS women, the occurrence of OSA strongly predisposes them to development of NAFLD and a worse metabolic profile; hence, treatment of OSA might be beneficial for NAFLD. (Endocr Pract. 2014;20:244-251)  相似文献   

14.

Objective

A silencer region (I-allele) within intron 16 of the gene for the regulator of vascular perfusion, angiotensin-converting enzyme (ACE), is implicated in phenotypic variation of aerobic fitness and the development of type II diabetes. We hypothesised that the reportedly lower aerobic performance in non-carriers compared to carriers of the ACE I-allele, i.e. ACE-DD vs. ACE-ID/ACE-II genotype, is associated with alterations in activity-induced glucose metabolism and capillarisation in exercise muscle.

Methods

Fifty-three, not-specifically trained Caucasian men carried out a one-legged bout of cycling exercise to exhaustion and/or participated in a marathon, the aim being to identify and validate genotype effects on exercise metabolism. Respiratory exchange ratio (RER), serum glucose and lipid concentration, glycogen, and metabolite content in vastus lateralis muscle based on ultra-performance lipid chromatography-mass spectrometry (UPLC-MS), were assessed before and after the cycling exercise in thirty-three participants. Serum metabolites were measured in forty subjects that completed the marathon. Genotype effects were assessed post-hoc.

Results

Cycling exercise reduced muscle glycogen concentration and this tended to be affected by the ACE I-allele (p = 0.09). The ACE-DD genotype showed a lower maximal RER and a selective increase in serum glucose concentration after exercise compared to ACE-ID and ACE-II genotypes (+24% vs. +2% and –3%, respectively). Major metabolites of mitochondrial metabolism (i.e. phosphoenol pyruvate, nicotinamide adenine dinucleotide phosphate, L-Aspartic acid, glutathione) were selectively affected in vastus lateralis muscle by exercise in the ACE-DD genotype. Capillary-to-fibre ratio was 24%-lower in the ACE-DD genotype. Individuals with the ACE-DD genotype demonstrated an abnormal increase in serum glucose to 7.7 mM after the marathon.

Conclusion

The observations imply a genetically modulated role for ACE in control of glucose import and oxidation in working skeletal muscle. ACE-DD genotypes thereby transit into a pre-diabetic state with exhaustive exercise, which relates to a lowered muscle capillarisation, and deregulation of mitochondria-associated metabolism.  相似文献   

15.
Childhood obstructive sleep apnea (OSA) is a sleeping disorder commonly affecting school-aged children and is characterized by repeated episodes of blockage of the upper airway during sleep. In this study, we performed a graph theoretical analysis on the brain morphometric correlation network in 25 OSA patients (OSA group; 5 female; mean age, 10.1 ± 1.8 years) and investigated the topological alterations in global and regional properties compared with 20 healthy control individuals (CON group; 6 females; mean age, 10.4 ± 1.8 years). A structural correlation network based on regional gray matter volume was constructed respectively for each group. Our results revealed a significantly decreased mean local efficiency in the OSA group over the density range of 0.32–0.44 (p < 0.05). Regionally, the OSAs showed a tendency of decreased betweenness centrality in the left angular gyrus, and a tendency of decreased degree in the right lingual and inferior frontal (orbital part) gyrus (p < 0.005, uncorrected). We also found that the network hubs in OSA and controls were distributed differently. To the best of our knowledge, this is the first study that characterizes the brain structure network in OSA patients and invests the alteration of topological properties of gray matter volume structural network. This study may help to provide new evidence for understanding the neuropathophysiology of OSA from a topological perspective.  相似文献   

16.

Background

Annoying snore is the principle symptom and problem in obstructive sleep apnea syndrome (OSAS). However, investigation has been hampered by the complex snoring sound analyses.

Objective

This study was aimed to investigate the energy types of the full-night snoring sounds in patients with OSAS.

Patients and Method

Twenty male OSAS patients underwent snoring sound recording throughout 6 hours of in-lab overnight polysomnogragphy. Snoring sounds were processed and analyzed by a new sound analytic program, named as Snore Map®. We transformed the 6-hour snoring sound power spectra into the energy spectrum and classified it as snore map type 1 (monosyllabic low-frequency snore), type 2 (duplex low-&mid-frequency snore), type 3 (duplex low- & high-frequency snore), and type 4 (triplex low-, mid-, & high-frequency snore). The interrator and test-retest reliabilities of snore map typing were assessed. The snore map types and their associations among demographic data, subjective snoring questionnaires, and polysomnographic parameters were explored.

Results

The interrator reliability of snore map typing were almost perfect (κ = 0.87) and the test-retest reliability was high (r = 0.71). The snore map type was proportional to the body mass index (r = 0.63, P = 0.003) and neck circumference (r = 0.52, P = 0.018). Snore map types were unrelated to subjective snoring questionnaire scores (All P>0.05). After adjustment for body mass index and neck circumference, snore map type 3–4 was significantly associated with severity of OSAS (r = 0.52, P = 0.026).

Conclusions

Snore map typing of a full-night energy spectrum is feasible and reliable. The presence of a higher snore map type is a warning sign of severe OSAS and indicated priority OSAS management. Future studies are warranted to evaluate whether snore map type can be used to discriminate OSAS from primary snoring and whether it is affected by OSAS management.  相似文献   

17.

Background

Obstructive Sleep Apnea (OSA) is tightly linked to some components of Metabolic Syndrome (MetS). However, most of the evidence evaluated individual components of the MetS or patients with a diagnosis of OSA that were referred for sleep studies due to sleep complaints. Therefore, it is not clear whether OSA exacerbates the metabolic abnormalities in a representative sample of patients with MetS.

Methodology/Principal Findings

We studied 152 consecutive patients (age 48±9 years, body mass index 32.3±3.4 Kg/m2) newly diagnosed with MetS (Adult Treatment Panel III). All participants underwent standard polysomnography irrespective of sleep complaints, and laboratory measurements (glucose, lipid profile, uric acid and C-reactive protein). The prevalence of OSA (apnea-hypopnea index ≥15 events per hour of sleep) was 60.5%. Patients with OSA exhibited significantly higher levels of blood pressure, glucose, triglycerides, cholesterol, LDL, cholesterol/HDL ratio, triglycerides/HDL ratio, uric acid and C-reactive protein than patients without OSA. OSA was independently associated with 2 MetS criteria: triglycerides: OR: 3.26 (1.47–7.21) and glucose: OR: 2.31 (1.12–4.80). OSA was also independently associated with increased cholesterol/HDL ratio: OR: 2.38 (1.08–5.24), uric acid: OR: 4.19 (1.70–10.35) and C-reactive protein: OR: 6.10 (2.64–14.11). Indices of sleep apnea severity, apnea-hypopnea index and minimum oxygen saturation, were independently associated with increased levels of triglycerides, glucose as well as cholesterol/HDL ratio, uric acid and C-reactive protein. Excessive daytime sleepiness had no effect on the metabolic and inflammatory parameters.

Conclusions/Significance

Unrecognized OSA is common in consecutive patients with MetS. OSA may contribute to metabolic dysregulation and systemic inflammation in patients with MetS, regardless of symptoms of daytime sleepiness.  相似文献   

18.
Angiotensin-converting enzyme gene (ACE) insertion/deletion (I/D) polymorphism have long been linked to sporadic Alzheimer disease (SAD), but the established data remained controversial. To clarify this inconsistency, a comprehensive meta-analysis was conducted. Through searching of Pubmed, Embase, Alzgene, China National Knowledge Infrastructure (CNKI) and manually searching relevant references, 53 independent studies from 48 articles were included, involving a total of 8153 cases and 14932 controls. The strength of association was assessed by using odds ratios (ORs) with 95% confidence intervals (CIs). Further stratified analyses and heterogeneity analyses were tested, as was publication bias. Overall, significant associations were revealed between I/D polymorphism and SAD risk using allelic comparison (OR = 1.09, 95%CI = 1.01–1.17, p = 0.030), homozygote comparison (OR = 1.17, 95%CI = 1.01–1.34, p = 0.030) and the dominant model (OR = 1.16, 95%CI = 1.04–1.29, p = 0.008), but they were not sufficiently robust to withstand the false-positive report probability (FPRP) analyses. Otherwise, in subgroup analyses restricted to the high quality studies, the large sample size studies and studies with population-based controls, no significant association was observed in any genetic models. In summary, the current meta-analysis suggested that the ACE I/D polymorphism is unlikely to be a major determining factor in the development of SAD.  相似文献   

19.
目的:探讨儿童及成人阻塞型睡眠呼吸暂停低通气综合症(OSAHS)发病原因、睡眠呼吸紊乱严重程度及合并代谢异常程度的差别。方法:对我院2003年1月1日至2010年7月1日71例诊断为OSAHS住院患者进行回顾性调查,登记年龄、性别、发病原因、血压、白细胞计数、中性粒细胞比率、淋巴细胞比率、呼吸暂停低通气指数(AHI)、夜间最低血氧饱和度、微觉醒指数。根据年龄进行分组,年龄<18岁者为A组,年龄≥18岁者为B组。比较两组发病原因、睡眠呼吸紊乱及合并代谢异常程度的差别。结果:1.A组慢性扁桃体炎和(或)腺样体肥大发生率明显高于B组(P<0.01),鼻中隔偏曲发生率明显低于B组(P<0.01)。2.与B组比较,A组AHI及微觉醒指数降低,夜间最低血氧饱和度升高(P<0.01);3.与B组比较,A组高血压、中性粒细胞比率、谷丙转氨酶比例降低(P<0.05)。结论:A组睡眠呼吸紊乱程度及代谢异常较B组程度轻,更需关注成人阻塞型睡眠呼吸暂停低通气综合症的综合治疗。  相似文献   

20.
目的:探讨儿童及成人阻塞型睡眠呼吸暂停低通气综合症(OSAHS)发病原因、睡眠呼吸紊乱严重程度及合并代谢异常程度的差别。方法:对我院2003年1月1日至20]0年7月1日71例诊断为OSAHS住院患者进行回顾性调查,登记年龄、性男日、发病原因、血压、白细胞计数、中性粒细胞比率、淋巴细胞比率、呼吸暂停低通气指数(AHI)、夜间最低血氧饱和度、微觉醒指数。根据年龄进行分组,年龄〈18岁者为A组,年龄≥18岁者为B组。比较两组发病原因、睡眠呼吸紊乱及合并代谢异常程度的差剐。结果:1.A组慢性扁桃体炎和(或)腺样体肥大发生率明显高于B组(P〈O.01),鼻中隔偏曲发生率明显低于B组(P〈0.01)。2.与B组比较,A组AHI及微觉醒指数降低,夜间最低血氧饱和度升高(P〈0.01);3.与B组比较,A组高血压、中性粒细胞比率、谷丙转氨酶比例降低(P〈0.05)。结论:A组睡眠呼吸紊乱程度及代谢异常较B组程度轻,更需关注成人阻塞型睡眠呼吸暂停低通气综合症的综合治疗。  相似文献   

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