Diabetic mellitus

糖尿病
  • 文章类型: Journal Article
    糖尿病(DM)是以升高的血糖水平为特征的全球公共卫生问题。监测血糖水平对于有效管理糖尿病和预防并发症至关重要。然而,纵向生物标志物与糖尿病并发症发生率之间的关联常常被忽视.因此,这项研究旨在评估糖尿病视网膜病变的发生率,预测因子,与埃塞俄比亚糖尿病患者的纵向空腹血糖水平变化有关。
    在阿姆哈拉地区的转诊医院进行了一项多中心回顾性随访研究,埃塞俄比亚。随机抽取462例新诊断DM患者。对生存子模型的比例风险假设进行了检查,对于纵向子模型,正态假设被检查。然后拟合了具有时间相关滞后参数化的关节模型。对模型假设和比较进行了检查。最后,使用具有95%置信区间(CI)且相应P值<0.05的风险比确定预测因子.
    在这项研究中,总的来说,54例患者出现DR,在随访期间,发病率为2.33/1000人-月,95%CI为[1.78,3.05]。农村住宅(AHR=2.21,95%CI:[1.21,4.05]),高血压合并症(AHR=3.01,95%CI:[1.85,6.53]),DM持续时间较长(>5年)(AHR=2.28,95%CI:[1.91,5.15])是DR发病率的重要预测因子。此外,DR的发生率与FBS变化的时间依赖性滞后值显著相关(AHR=4.20,95%CI[1.62,10.85]).
    在这项研究中,与之前在埃塞俄比亚开展的类似研究相比,糖尿病性视网膜病变的发病率较高.纵向空腹血糖水平变化的联合模型与DR风险增加显着相关。此外,作为农村住宅,高血压合并症,DM持续时间较长是DR发病率的重要预测因素。因此,公众意识,综合护理方法,强烈建议优先控制血糖.
    UNASSIGNED: Diabetes mellitus (DM) is a global public health problem characterized by an elevated blood glucose level. Monitoring blood sugar levels is vital for effective diabetes management and preventing complications. However, the association between longitudinal biomarkers and the incidence of diabetic complications is often overlooked. Therefore, this study aimed to assess the incidence of diabetic retinopathy, predictors, and association with longitudinal fasting blood sugar level changes among diabetes mellitus patients in Ethiopia.
    UNASSIGNED: A multicenter retrospective follow-up study was carried out in referral hospitals in Amhara region, Ethiopia. A random sample of 462 newly diagnosed DM patients was selected. The proportional hazard assumption was checked for the survival sub-model, and for the longitudinal sub-model, the normality assumption was checked. Then the joint modeling with time-dependent lagged parameterizations was fitted. Model assumptions and comparisons were checked. Finally, the hazard ratio with a 95% confidence interval (CI) with a corresponding P-value<0.05 was used to identify predictors.
    UNASSIGNED: In this study, Overall, 54 patients developed DR, and the incidence rate was 2.33 per 1000 person-months over the follow-up period, with a 95% CI of [1.78, 3.05]. Rural residence (AHR = 2.21, 95% CI: [1.21, 4.05]), hypertension co-morbidity (AHR = 3.01, 95% CI: [1.85, 6.53]), and longer duration of DM (>5 years) (AHR = 2.28, 95% CI: [1.91, 5.15]) were important predictors for the incidence of DR. In addition, the incidence of DR was substantially correlated with the time-dependent lagged value of FBS change (AHR = 4.20, 95% CI [1.62, 10.85]).
    UNASSIGNED: In this study, the incidence of diabetic retinopathy was somewhat high when compared to prior similar studies in Ethiopia. A joint model of longitudinal fasting blood sugar level changes was significantly associated with an increased risk of DR. Besides, being rural residence, hypertension co-morbidity, and a longer duration of DM were significant predictors for the incidence of DR. Therefore, public awareness, an integrated care approach, and prioritizing glycemic control are highly recommended.
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  • 文章类型: Journal Article
    胰岛素是一种积极调节合成代谢和细胞生长的激素,而糖尿病是一种以胰岛素作用受损的高血糖为特征的疾病。我和我的同事主要通过模型小鼠阐明了胰岛素在各种组织中的多方面作用。在肝脏中,胰岛素调节喂养过程中的内质网(ER)应激反应,而内质网应激“反应失败”有助于脂肪性肝炎合并糖尿病的发展。不仅肝脏,而且肾脏的近端小管在糖异生的调节中也很重要,我们发现胰岛素与后者组织中吸收的葡萄糖一致抑制糖异生。在骨骼肌中,另一个重要的胰岛素靶向组织,胰岛素/IGF-1信号传导受损不仅导致肌肉减少症,一种与衰老相关的骨骼肌疾病,而且骨质减少和寿命较短。衰老也受脂肪因子调节,应该考虑到,在有早衰症遗传背景的患者中,“脂肪因子失衡”可能会加速衰老。此外,我们在一项大规模临床试验中报道了强化多因素干预对2型糖尿病患者糖尿病血管并发症和死亡率的影响,J-DOIT3,以及随后对肾脏事件和骨折事件的亚分析结果.各种研究方法使我们内分泌学家能够阐明激素信号的生理学,内分泌疾病发展的潜在机制,以及相应的治疗措施。这些方法也提出了基本问题,但是以适当的方式解决这些问题肯定会有助于内分泌学的进一步发展。
    Insulin is a hormone that positively regulates anabolism and cell growth, whereas diabetes mellitus is a disease characterized by hyperglycemia associated with impaired insulin action. My colleagues and I have elucidated multifaceted insulin action in various tissues mainly by means of model mice. In the liver, insulin regulates endoplasmic reticulum (ER) stress response during feeding, whereas ER stress \'response failure\' contributes to the development of steatohepatitis comorbid with diabetes. Not only the liver but also the proximal tubules of the kidney are important in the regulation of gluconeogenesis, and we revealed that insulin suppresses gluconeogenesis in accordance with absorbed glucose in the latter tissue. In skeletal muscle, another important insulin-targeted tissue, impaired insulin/IGF-1 signaling leads not only to sarcopenia, an aging-related disease of skeletal muscle, but also to osteopenia and shorter longevity. Aging is regulated by adipokines as well, and it should be considered that aging could be accelerated by \'imbalanced adipokines\' in patients with a genetic background of progeria. Moreover, we reported the effects of intensive multifactorial intervention on diabetic vascular complications and mortality in patients with type 2 diabetes in a large-scale clinical trial, the J-DOIT3, and the results of subsequent sub-analyses of renal events and fracture events. Various approaches of research enable us of endocrinologists to elucidate the physiology of hormone signaling, the mechanisms underlying the development of endocrine diseases, and the appropriate treatment measures. These approaches also raise fundamental questions, but addressing them in an appropriate manner will surely contribute to the further development of endocrinology.
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  • 文章类型: Journal Article
    糖尿病是一种多系统表现的常见病,在全球范围内造成严重的残疾和死亡负担。血管紧张素受体脑啡肽抑制剂(ARNI)属于一类治疗心力衰竭的药物,具有降低住院率和死亡率的益处。这篇综述主要集中在与ARNI和糖尿病并发症相关的临床和基础研究。讨论可能的生理和分子机制,对未来应用的见解。
    Diabetes mellitus is a prevalent disorder with multi-system manifestations, causing a significant burden in terms of disability and deaths globally. Angio-tensin receptor-neprilysin inhibitor (ARNI) belongs to a class of medications for treating heart failure, with the benefits of reducing hospitalization rates and mortality. This review mainly focuses on the clinical and basic investigations related to ARNI and diabetic complications, discussing possible physiological and molecular mechanisms, with insights for future applications.
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  • 文章类型: Journal Article
    糖尿病(DM)是一组以胰岛素分泌缺陷导致的高血糖为特征的代谢性疾病。胰岛素作用,或者两者兼而有之。该研究旨在评估口腔健康教育和干预在改善2型糖尿病(T2DM)患者口腔健康结局中的有效性。方法本研究于2023年2月至2023年8月在钦奈的Saveetha牙科学院和医院的口腔医学和放射科进行,印度。研究中的所有患者均患有2型糖尿病并伴有口腔表现。这项研究招募了105名参与者,其中女性63人,男性42人。向所有参与者提供了标准的形式,并记录了调查结果。形式包括不同的口腔表现,血糖水平,腐烂的,失踪,和填充牙齿(DMFT)指数,和Russell的牙周指数.然后对结果进行统计分析。结果这项对105名T2DM患者(60%的女性和40%的男性)的研究揭示了显着的口腔健康挑战:33%患有牙周炎,20%有牙龈炎,5%有苔藓样反应,23%有口干症,11%有口臭,8%有念珠菌病,说明糖尿病对牙齿健康的影响。在适当的情况下,为个别患者量身定制的治疗方法,例如缩放,根规划,口腔卫生教育,药物治疗,和干预后,并发症的发生率显著下降了61%。共有7%的患者有牙龈炎,11%有牙周炎,12%有口干症,4%有口臭,2%有念珠菌病,1%有苔藓样反应,分别。这突出了定期口腔护理对糖尿病患者产生积极影响的重要性。61%的人口腔健康得到改善,39%的人没有改善。结论本研究为口腔健康教育和干预措施在改善T2DM患者口腔健康结局方面的有效性提供了有力的证据。这种方法为管理与糖尿病相关的口腔健康并发症和改善该人群的整体健康和福祉提供了一个有前途的策略。
    Introduction Diabetes mellitus (DM) is a group of metabolic diseases characterized by hyperglycemia resulting from defects in insulin secretion, insulin action, or both. The study aimed to evaluate the effectiveness of oral health education and intervention in improving oral health outcomes in type 2 DM (T2DM) patients. Methods The present study was conducted in the Department of Oral Medicine and Radiology between February 2023 and August 2023 at Saveetha Dental College and Hospitals in Chennai, India. All of the patients in the study had T2DM with oral manifestations. This study enrolled 105 participants, of whom 63 were female and 42 were male. A standard pro forma was given to all the participants, and the findings were recorded. The pro forma comprises different oral manifestations, blood glucose levels, the Decayed, Missing, and Filled Teeth (DMFT) index, and Russell\'s periodontal index. The results were then statistically analyzed. Results This study of 105 individuals with T2DM (60% females and 40% males) revealed significant oral health challenges: 33% had periodontitis, 20% had gingivitis, 5% had lichenoid reactions, 23% had xerostomia, 11% had halitosis, and 8% had candidiasis, illustrating diabetes\' impact on dental health. Following appropriate, tailor-made treatment for individual patients, such as scaling, root planning, oral hygiene education, pharmacotherapy, and post-intervention, the prevalence of complications notably decreased by 61%. A total of 7% of patients had gingivitis, 11% had periodontitis, 12% had xerostomia, 4% had halitosis, 2% had candidiasis, and 1% had lichenoid reactions, respectively. This highlights the importance of regular oral care positively impacting diabetes patients, with 61% experiencing improved oral health and 39% experiencing no improvement. Conclusion This study provides compelling evidence for the effectiveness of oral health education and interventions in improving oral health outcomes in T2DM patients. This approach offers a promising strategy for managing the oral health complications associated with diabetes and improving this population\'s overall health and well-being.
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  • 文章类型: Journal Article
    糖尿病肾病是一种进行性疾病和终末期肾病的主要原因。氧化应激和炎症在其发病机制中起重要作用。在临床前研究中,孟鲁司特已显示出肾脏保护和抗氧化特性,因此,本研究计划评估孟鲁司特在链脲佐菌素(STZ)诱导的糖尿病肾病模型中的作用.
    40只Wistar大鼠随机分为四组。1.车辆控制组,2.依那普利(5mg/kg),3.孟鲁司特低剂量(10mg/kg)和4。高剂量(20mg/kg)组。在第1天,使用单剂量的STZ(60mg/kg)腹膜内诱导糖尿病。基于第7天和第8天至第42天的空腹血糖(FBG)水平验证糖尿病诱导,给予大鼠研究药物。FBG,血清肌酐,在研究前和研究后评估血尿素氮(BUN)和尿微量白蛋白水平.肾脏丙二醛(MDA)的评估,在研究结束时进行了还原型谷胱甘肽(GSH)和肾组织病理学检查.
    孟鲁司特10mg/kg组显示与载体对照组相比显著更低的尿微量白蛋白水平(p<0.05)。孟鲁司特20mg/kg组FBG水平明显降低,血清肌酐,BUN和尿微量白蛋白与载体对照组相比(p<0.05)。此外,与媒介物对照组相比,孟鲁司特20mg/kg组还对肾脏MDA和GSH水平(p<0.05)和组织病理学评分显示出更好的效果。
    孟鲁司特因其抗氧化作用而在糖尿病肾病模型中显示出保护作用。
    UNASSIGNED: Diabetic nephropathy is a progressive condition and a leading cause of end-stage renal disease. Oxidative stress and inflammation play an important role in its pathogenesis. In pre-clinical studies, Montelukast had shown renoprotective and anti-oxidant properties, hence the study was planned to evaluate the effect of Montelukast in a Streptozotocin (STZ) induced model of diabetic nephropathy.
    UNASSIGNED: 40 Wistar rats of either sex were randomly divided into four groups viz. 1. Vehicle control group, 2. Enalapril (5 mg/kg), 3. Montelukast low-dose (10 mg/kg) and 4. High-dose (20 mg/kg) group. On day 1, diabetes was induced using a single dose of STZ (60 mg/kg) intraperitoneally. Diabetes induction was verified based on fasting blood glucose (FBG) levels on day 7 and from day 8 to day 42, rats were given study drugs. FBG, serum creatinine, blood urea nitrogen (BUN) and urine microalbumin levels were assessed pre-study and post-study. Assessments of kidney malondialdehyde (MDA), reduced glutathione (GSH) and renal histopathology were carried out at the end of the study.
    UNASSIGNED: Montelukast 10 mg/kg group showed significantly lower urine microalbumin levels compared to the vehicle control group (p < 0.05). Montelukast 20 mg/kg group showed significantly lower levels of FBG, serum creatinine, BUN and urine microalbumin compared to the vehicle control group (p < 0.05). In addition, Montelukast 20 mg/kg group also showed better effects on kidney MDA and GSH levels (p < 0.05) and histopathological scores compared to the vehicle control group.
    UNASSIGNED: Montelukast showed a protective effect in the model of diabetic nephropathy because of its antioxidant effect.
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  • 文章类型: Journal Article
    背景:慢性肾脏病[CKD]影响全球不同年龄组的个体。此外,CKD与几个危险因素有关,包括肥胖,生活方式,和高血压,这在中东很常见。超声检查是CKD的首选检查。近年来,剪切波弹性成像[SWE]通过超声的持续发展而发展起来,并受到了广泛的关注;因此,它可用于测量组织硬度。该研究旨在使用点剪切波弹性成像[p-SWE]来确定糖尿病与皮质肾厚度之间的相关性,以检测病理。
    方法:本研究在阿卜杜勒-阿齐兹国王大学医院进行。我们检查了61例接受SWE的患者。根据是否存在2型糖尿病[DM]将患者分为两组。
    结果:结果表明,皮质僵硬度与DM持续时间之间存在显着相关性[p<0.005]。此外,DM患者的皮质硬度与皮质厚度呈负相关[p=0.147]。此外,eGFR随着皮质硬度的增加而降低[p=0.499].有和无DM患者的皮质厚度分别为0.750±0.2kPa和0.788±0.4kPa,分别。DM患者和对照组患者的肾脏硬度分别为8.5±8.6cm和14.0±25.16cm,分别。
    结论:这项研究表明肾脏p-SWE测量是可靠的。因此,建议进一步研究评估糖尿病患者和无糖尿病患者的肾硬度.
    BACKGROUND: Chronic Kidney Disease [CKD] affects individuals of different age groups worldwide. Moreover, CKD is associated with several risk factors, including obesity, lifestyle, and hypertension, which are common in the Middle East. Ultrasonography is the examination of choice for CKD. In recent years, Shear Wave Elastography [SWE] has developed through the continued development of ultrasound and received substantial attention ;therefore, it can be used to measure tissue stiffness. The study aimed to use point Shear Wave Elastography [p-SWE] to determine the correlation between diabetes and cortical renal thickness in detecting pathologies.
    METHODS: This study was performed at the King Abdul-Aziz University Hospital. We examined 61 patients who underwent SWE. The patients were classified into two groups based on the presence or absence of type 2 Diabetes Mellitus [DM].
    RESULTS: The results showed that there was a significant correlation between cortical stiffness and DM duration [p<0.005]. In addition, there was a negative correlation between cortical stiffness and cortical thickness [p=0.147] in patients with DM. Moreover, the eGFR decreased with an increase in cortical stiffness [p=0.499]. The cortical thickness in patients with and without DM was 0.750 ± 0.2 kPa and 0.788 ± 0.4 kPa, respectively. The kidney stiffness in patients with DM and control patients was 8.5 ± 8.6 cm and 14.0 ± 25.16 cm, respectively.
    CONCLUSIONS: This study showed that kidney p-SWE measurements were reliable. Therefore, further studies assessing kidney stiffness in patients with and without people with diabetes are recommended.
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  • 文章类型: Journal Article
    已开发出一种四步合成方法来制备1,3,5,8-四羟基黄吨酮(2a)及其异构体1,3,7,8-四羟基黄吨酮(2b)。通过改进的方案还合成了25个黄吨酮。黄原酮2a被认为是对α-葡萄糖苷酶和醛糖还原酶(ALR2)最具活性的抑制剂,IC50值为7.8±0.5μM和63.2±0.6nM,分别,远比阿卡波糖(35.0±0.1μM)活跃,并且比依帕司他(67.0±3.0nM)更活跃。2a也被证实为体外最具活性的抗氧化剂,EC50值为8.9±0.1μM。任何结构修饰,包括甲基化,删除,2a中羟基的位置改变会导致抑制和抗氧化活性丧失。通过应用H2O2诱导的氧化应激线虫模型,已证实,黄原酮2a可以被秀丽隐杆线虫吸收,并且可以生物利用来减弱体内氧化应激,包括对寿命的影响,超氧化物歧化酶,过氧化氢酶,还有丙二醛.2a具有体内降血糖作用和减轻高糖下胚胎畸形的作用。我们所有的数据都支持黄原酮2a具有三重作用,是治疗糖尿病的潜在药物,妊娠期糖尿病,和糖尿病并发症。
    A four-step synthetic process has been developed to prepare 1,3,5,8-tetrahydroxyxanthone (2a) and its isomer 1,3,7,8-tetrahydroxyxanthone (2b). 25 more xanthones were also synthesized by a modified scheme. Xanthone 2a was identified as the most active inhibitor against both α-glucosidase and aldose reductase (ALR2), with IC50 values of 7.8 ± 0.5 μM and 63.2 ± 0.6 nM, respectively, which was far active than acarbose (35.0 ± 0.1 μM), and a little more active than epalrestat (67.0 ± 3.0 nM). 2a was also confirmed as the most active antioxidant in vitro with EC50 value of 8.9 ± 0.1 μM. Any structural modification including methylation, deletion, and position change of hydroxyl group in 2a will cause an activity loss in inhibitory and antioxidation. By applying a H2 O2 -induced oxidative stress nematode model, it was confirmed that xanthone 2a can be absorbed by Caenorhabditis elegans and is bioavailable to attenuate in vivo oxidative stress, including the effects on lifespan, superoxide dismutase, Catalase, and malondialdehyde. 2a was verified with in vivo hypoglycemic effect and mitigation of embryo malformations in high glucose. All our data support that xanthone 2a behaves triple roles and is a potential agent to treat diabetic mellitus, gestational diabetes mellitus, and diabetic complications.
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  • 文章类型: Journal Article
    颈动脉粥样硬化是缺血性卒中的主要原因,缺血性中风是全球发病率和死亡率的主要原因。不幸的是,动脉粥样硬化斑块形成的原因尚不清楚.miRNA-29c可促进糖尿病小鼠血管平滑肌细胞(VSMCs)的表型转化,最终导致斑块形成和出血。然而,这种研究很少见,仅限于动物实验。
    在我们的研究中,根据是否诊断为DM,将40例患者分为糖尿病(DM)组和非DM组。然后,应用实时定量PCR检测来自40例接受颈动脉内膜切除术的受试者的人颈动脉斑块组织中的miRNA-29c水平.
    简而言之,与非DM受试者相比,糖尿病患者的miRNA-29c水平降低,这种比较具有统计学意义(P=0.02)。值得注意的是,可变miRNA-29c水平与HbA1c水平呈负相关,尽管没有观察到统计学意义。此外,卒中患者的miRNA-29c水平升高.
    集体,颈动脉斑块中miRNA-29c水平与DM和脑卒中密切相关,这可能有助于动脉粥样硬化的形成。
    UNASSIGNED: Carotid artery atherosclerosis is a major cause of ischemic stroke, and ischemic stroke is the leading cause of morbidity and mortality worldwide. Unfortunately, the reason for the build-up of atherosclerosis plaque is unknown. The miRNA-29c was reported to promote the phenotype transformation of vascular smooth muscle cells (VSMCs) in diabetes mice, eventually leading to plaque formation and bleeding. However, such studies are rare and limited to animal experiments.
    UNASSIGNED: In our study, 40 patients were divided into a diabetic mellitus (DM) group and a non-DM group according to whether they were diagnosed with DM. Then, the real-time quantitative PCR was applied to examine the miRNA-29c level in human carotid plaque tissue derived from 40 subjects receiving carotid endarterectomy.
    UNASSIGNED: Briefly, diabetes patients had a decreased miRNA-29c level as compared with non-DM subjects, and this comparison was statistically significant (P = 0.02). Notably, variable miRNA-29c level was negatively associated with HbA1c level, although no statistical significance was observed. Moreover, there was an increased miRNA-29c level in patients with cerebral stroke.
    UNASSIGNED: Collectively, the miRNA-29c level in the carotid plaque is closely associated with DM and cerebral stroke, which may contribute to atherosclerosis formation.
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  • 文章类型: Journal Article
    背景:非传染性疾病是生活方式疾病,在全世界范围内都在增加。他们造成了全世界71%的死亡,其中1600万人过早死亡或在70岁之前死亡。在非传染性疾病中,糖尿病和高血压是最常见的。该研究旨在发现糖尿病和高血压患者中抑郁症的患病率。
    方法:对370名被诊断为糖尿病的受试者进行了描述性横断面研究,高血压,都在Mangaluru的K.SHegde慈善医院。采用有目的的抽样技术来选择受试者。患者健康问卷-9(PHQ-9)用于查找客户中的抑郁症状。统计分析使用SPSS版本20(Armonk,纽约:IBM公司);使用描述性(频率和百分比)和推断性(单向方差分析(ANOVA))统计来解释数据。
    结果:在370名受试者中,41%没有抑郁症,大多数59%患有轻度至重度抑郁症。在诊断为糖尿病的客户中(n=139),大多数(63%)患有轻度至重度抑郁症.同样,被诊断为高血压的受试者,51%没有抑郁症,49%患有轻度至重度抑郁症。此外,在被诊断患有糖尿病和高血压的受试者中(n=99),67%患有轻度至重度抑郁症。
    结论:研究表明,许多在医院门诊就诊的糖尿病和高血压患者会出现抑郁。所以,早期识别抑郁症状并采取适当措施预防并发症至关重要。
    BACKGROUND: Non-communicable diseases are lifestyle diseases that are increasing throughout the world. They are responsible for 71% of death worldwide, among which 16 million people die prematurely or before reaching the age of 70 years. Among the non-communicable diseases, diabetes and hypertension are the most common. The study aimed to find the prevalence of depression among diabetes and hypertensive clients.
    METHODS: A descriptive cross-sectional study was conducted among 370 subjects diagnosed with diabetes mellitus, hypertension, and both in Justice K.S Hegde Charitable Hospital at Mangaluru. A purposive sampling technique was adopted to select the subjects. Patient health questionnaire-9 (PHQ-9) was used to find the depressive symptoms among the client. The statistical analysis was conducted using SPSS version 20 (Armonk, NY: IBM Corp.); descriptive (frequency and percentage) and inferential (one-way analysis of variance (ANOVA)) statistics were used to interpret the data.
    RESULTS: Out of 370 subjects, 41% had no depression, and most 59% had mild to severe levels of depression. Among clients diagnosed with diabetes mellitus (n = 139), the majority (63%) had mild to severe depression. Similarly, of subjects diagnosed with hypertension, 51% had no depression, and 49% had mild to severe depression. In addition, among subjects diagnosed with both diabetes mellitus and hypertension (n = 99), 67% had mild to severe depression.
    CONCLUSIONS: The study shows that many diabetes and hypertensive patients attending the outpatient departments of the hospital experience depression. So, it is crucial to identify the depressive symptoms early and take appropriate measures to prevent complications.
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  • 文章类型: Journal Article
    背景:Wolfram综合征(WS)是一种罕见的常染色体隐性遗传多系统神经退行性疾病,其特征是非自身免疫性胰岛素依赖型糖尿病,视神经萎缩,感觉神经性耳聋,以糖尿病为主要特征。由于临床表型异质性,误诊率高。然而,早期准确诊断和综合管理是提高生活质量和延长寿命的关键。
    结果:来自7个WS家系的11名患者,具有10个突变位点(c.1314_1317delCTTT,c.C529T,c.C529A,c.G2105A,c.C1885T,c.1859_1860del,c.G2020A,c.C529A,c.G2105A,包括WFS1基因中的c.G1393C)。我们进行了进一步的专家部门分析,以明确诊断并分析基因与表型之间的相关性。
    结论:这些患者的基因型与其表型密切相关。分析患者的临床资料,为该病的诊断和临床管理提供依据。
    BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of life and prolonging life.
    RESULTS: Eleven patients from seven WS pedigrees with 10 mutation sites (c.1314_1317delCTTT, c.C529T, c.C529A, c.G2105A, c.C1885T, c.1859_1860del, c.G2020A, c.C529A, c.G2105A, and c.G1393C) in the WFS1 gene were included. We conducted further expert department analysis to clarify the diagnosis and analyze the correlation between genes and phenotypes.
    CONCLUSIONS: The genotypes of these patients were closely associated with their phenotypes. The clinical data of the patients were analyzed to provide a basis for the diagnosis and clinical management of the disease.
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