Saudi

沙特
  • 文章类型: Journal Article
    癫痫占神经系统疾病全球负担的很大一部分。这篇综述旨在评估人口统计学,临床特征,根据2018年至2023年发表的研究,沙特阿拉伯癫痫患者的管理。使用PubMed进行了系统评价,Medline,Embase,和Cochrane图书馆从2018年1月到2023年1月,其中与流行病学相关的关键术语,临床特征,治疗,沙特阿拉伯的癫痫治疗策略被用于搜索相关研究。所有这一时期用英语发表的相关文章都包括在内,和关于作者的数据,研究的年份,样本量,研究设计,人口特征,临床特征,并收集治疗策略。男性优势,有6-24.9%的癫痫家族史,局灶性癫痫和强直阵挛性癫痫的分布相等,脑电图异常19.7-70%,单药治疗的患病率较高是本综述的主要发现.
    Epilepsy accounts for a large part of the global burden of neurological disorders. This review aimed to assess the demographics, clinical characteristics, and management of patients with epilepsy in Saudi Arabia based on studies published from 2018 to 2023. A systematic review was carried out using PubMed, Medline, Embase, and Cochrane Library from January 2018 to January 2023, where key terms related to the epidemiology, clinical characteristics, treatment, and management strategy of epilepsy in Saudi Arabia were used to search for related studies. All relevant articles published in this period in the English language were included, and data about authors, year of the study, sample size, study design, demographic characteristics, clinical characteristics, and treatment strategy were collected. A male preponderance, a 6-24.9% family history of epilepsy, an equal distribution of focal and tonic-clonic epilepsy, EEG abnormalities of 19.7-70%, and a higher prevalence of monotherapy regimens were the main findings of this review.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    RHD基因是最复杂的血型基因之一。RhD阴性和RhD阳性个体中RHD基因的分子背景在不同群体内和之间变化。建立有效的基因分型方法需要了解特定群体中RHD基因的分子基础。虽然在许多种族中已经揭示了分子基础,比如高加索人和非洲黑人,它仍然需要在阿拉伯人中阐明。
    这项研究的目的是深入了解沙特供体中RhD阳性和RhD阴性表型的分子基础。
    使用常规血清学测试通过对D进行分型来确定136名沙特供体的Rh表型,C,C,E,和e抗原。多重PCR和单特异性引物PCR用于检测外显子3、4和7以及杂合恒河猴盒基因的存在。分别,在RhD阴性和/或RhD阳性样品中。
    在136个样本中,RhD阳性70例,RhD阴性66例。RhD阴性捐赠者没有三个测试外显子中的任何一个,而杂种恒河猴盒基因全部被检测到,表明RHD缺失等位基因的接合性状态。在79%的RhD阳性个体中检测到杂种恒河猴盒子基因,提示RHD阴性单倍型的频率很高。
    研究结果表明,具有RhD阴性表型的沙特人可能在纯合状态下具有完整的RHD缺失。然而,为了实施有效和专门的分子RHD分型策略,需要对沙特人群中的变异RHD等位基因进行更全面的分析.
    UNASSIGNED: The RHD gene is one of the most complex blood group genes. The molecular background of the RHD gene in RhD-negative and RhD-positive individuals varies within and among different populations. Knowing the molecular basis of the RHD gene in a specific population is required to establish effective genotyping methods. While the molecular basis has been revealed in many ethnicities, such as Caucasians and Black Africans, it still requires elucidation in Arabs.
    UNASSIGNED: The aim of this study was to gain insights into the molecular basis of RhD-positive and RhD-negative phenotypes in Saudi donors.
    UNASSIGNED: Conventional serological tests were used to determine the Rh phenotypes in 136 Saudi donors by typing D, C, c, E, and e antigens. Multiplex-PCR and Single Specific Primer-PCR were used to detect the presence of exons 3, 4, and 7 and the hybrid Rhesus box gene, respectively, in RhD-negative and/or RhD-positive samples.
    UNASSIGNED: Of the 136 samples, 70 were RhD positive and 66 were RhD negative. None of the RhD-negative donors had any of the three tested exons, whereas the hybrid Rhesus box gene was detected in all, indicating the zygosity status of the RHD deletion allele. The hybrid Rhesus box gene was detected in 79% of the RhD-positive individuals, suggesting high frequencies of RHD-negative haplotypes.
    UNASSIGNED: The study findings indicate that Saudis with the RhD-negative phenotype are likely to have an entire RHD deletion in the homozygous state. However, a more comprehensive analysis of variant RHD alleles in the Saudi population is required to implement effective and dedicated molecular RHD typing strategies.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    小儿甲状腺癌呈上升趋势,尤其是青少年。它比成人甲状腺癌更具侵袭性,并且通常具有高级特征。这篇综述旨在研究沙特阿拉伯儿童甲状腺癌的治疗和结果的当前趋势。
    进行了全面的文献检索,以确定沙特阿拉伯儿童甲状腺癌的相关研究。PubMed和GoogleScholar从成立到2023年12月都在搜索。提取的信息包括研究标识符,患者人口统计学,临床病理特征,治疗方式,并发症,监视实践,复发模式,和生存结果。
    文献检索在沙特阿拉伯确定了十项符合资格的儿童甲状腺癌研究。沙特阿拉伯的小儿甲状腺癌通常具有高级特征,包括与成人相比,诊断时淋巴结转移和远处转移的发生率更高。细针抽吸仍然准确,与最终的组织病理学密切相关。治疗主要包括手术,甲状腺全切除术很常见,然后对高危患者或碘摄取阳性患者进行放射性碘治疗。生存率超过95%,表明预后普遍良好。在一些研究中,复发率可以达到30%,特别是较大的肿瘤或远处转移。低钙血症和喉返神经损伤是术后常见的并发症,强调需要经验丰富的外科医生和细致的技术。正在研究小儿甲状腺癌的遗传改变,但它们对预后和治疗反应的影响尚不清楚.沙特阿拉伯其他地区的管理和成果数据有限,需要进行多中心研究来解决医疗保健差距。
    沙特阿拉伯的小儿甲状腺癌与其成人相比具有独特的特征,强制采用专门的管理方法。需要更多的早期检测研究,风险分层,个性化治疗,并解决地区差异,以改善这一弱势群体的成果。
    UNASSIGNED: Pediatric thyroid cancer is on the rise, especially among adolescents. It is more aggressive than adult thyroid cancer and often presents with advanced features. This review aims to examine the current trends in the management and outcomes of pediatric thyroid cancer in Saudi Arabia.
    UNASSIGNED: A comprehensive literature search was conducted to identify relevant studies on pediatric thyroid cancer in Saudi Arabia. PubMed and Google Scholar were searched from inception until December 2023. Extracted information included study identifiers, patient demographics, clinicopathological features, treatment modalities, complications, surveillance practices, recurrence patterns, and survival outcomes.
    UNASSIGNED: The literature search identified ten eligible studies on pediatric thyroid cancer in Saudi Arabia. Pediatric thyroid cancer in Saudi Arabia often presents with advanced features, including higher rates of lymph nodes and distant metastases at diagnosis compared to adults. Fine-needle aspiration remains accurate, correlating well with final histopathology. Treatment primarily involves surgery, with total thyroidectomy being common, followed by radioactive iodine therapy for high-risk patients or those with positive iodine uptake. Survival rates exceed 95%, indicating a generally favorable prognosis. Recurrence rates can reach up to 30% in some studies, particularly with larger tumors or distant metastases. Hypocalcemia and recurrent laryngeal nerve injury are common postoperative complications, highlighting the need for experienced surgeons and meticulous technique. Genetic alterations in pediatric thyroid cancer are being investigated, but their impact on prognosis and treatment response is unclear. Limited data on management and outcomes in other regions of Saudi Arabia calls for multicenter studies to address healthcare disparities.
    UNASSIGNED: Pediatric thyroid cancer in Saudi Arabia has unique characteristics compared to its adult counterpart, mandating specialized management approaches. More research is needed on early detection, risk stratification, personalized treatment, and addressing regional disparities to improve outcomes for this vulnerable population.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    目的:评估不同属性之间的相关性,生物标志物的水平,以及被诊断为2型糖尿病(T2DM)和肝硬化(LC)的患者发生心肾综合征(CRS)的可能性。该假设表明,肝病可能与肾功能损害有关,心功能不全,和心肾综合征的发展方法:本研究回顾性评估了2022年和2023年在AlMadinaAlMunwara医院住院的LC和T2DM患者的病历。
    结果:本研究调查了医生证实患有LC的T2DM患者。研究参与者的高血糖和糖化血红蛋白(HbA1c)读数表明血糖控制不佳。高血压,致动脉粥样硬化血浆指标(AIP),肥胖困扰着这些人中的大多数。高肌酐,中度估计肾小球滤过率(eGFR)下降,在LC和T2DM患者中,尿白蛋白-肌酐(UACR)升高是最普遍的变量.心肾综合征危险因素,包括血压升高,甘油三酯水平,体重指数(BMI),和高敏C反应蛋白(hs-CRP)浓度,通过逻辑回归确定。已经证明,这些危险因素的患病率随着年龄的增长而增加;女性患CRS的风险可能更大。特异性生物标志物评估将108例(22.6%)慢性肾脏病(CKD)高危的LC和T2DM患者分类,100(20%)有心血管疾病(CVD)的风险,91人(18.2%)面临CRS风险。
    结论:目前的评估包括500名T2DM和LC患者。在这项研究中发现的CRS的危险因素包括胆固醇和甘油三酯水平升高,高BMI,血压升高,年龄是一个重要因素,特别是女性患者。早期识别LC和T2DM患者的这些特征可能有助于减轻慢性疾病及其相关并发症的进展。
    OBJECTIVE: To evaluate the correlation between different attributes, levels of biomarkers, and the probability of developing cardiorenal syndrome (CRS) in patients who have been diagnosed with type 2 diabetes mellitus (T2DM) and liver cirrhosis (LC). The hypothesis suggests that liver illness may be linked to renal impairment, cardiac dysfunction, and the development of cardiorenal syndrome METHODS: The current study retrospectively assessed the medical records of patients who had LC and T2DM diagnoses and were hospitalized at Al Madina Al Munwara hospitals in 2022 and 2023.
    RESULTS: This research investigated T2DM patients with physician-confirmed to have LC. Poor glycemic control is indicated by high blood glucose and glycated hemoglobin (HbA1c) readings in research participants. High blood pressure, atherogenic plasma indicator (AIP), and obesity plagued most of these individuals. High creatinine, moderate estimated Glomerular Filtration Rate (eGFR) decline, and a modest urinary albumin-to-creatinine (UACR) rise were the most prevalent variables in LC and T2DM patients. Cardiorenal syndrome risk factors, including elevated blood pressure, triglyceride levels, body mass index (BMI), and high-sensitivity C-reactive protein (hs-CRP) concentrations, were identified through logistic regression. It has been demonstrated that the prevalence of these risk factors increases with age; women may be at a greater risk for developing CRS. Specific biomarker evaluations classified 108 (22.6%) LC and T2DM patients at high risk for chronic kidney disease (CKD), 100 (20%) at risk for cardiovascular disease (CVD), and 91 (18.2%) at risk for CRS.
    CONCLUSIONS: The current assessment included 500 patients with T2DM and LC. The risk factors for CRS identified in this study included elevated cholesterol and triglyceride levels, high BMI, and elevated blood pressure, with age being a significant factor, particularly in female patients. Early identification of these characteristics in patients with LC and T2DM could aid in mitigating the progression of chronic illnesses and their associated complications.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    背景:大学生遇到各种睡眠问题,这些问题对他们的健康和学习成绩有影响。因此,这项研究的目的是评估沙特大学生睡眠障碍的患病率及其对学习成绩的影响.
    方法:这是一项涉及大学生的在线横断面研究,于2022年11月至2023年2月在沙特阿拉伯进行。通过包括Epworth嗜睡量表(ESS)在内的在线筛查调查检查了本科生的睡眠障碍,以评估白天过度嗜睡。失眠严重程度指数(ISI)来衡量失眠,和柏林问卷来检查阻塞性睡眠呼吸暂停(OSA)。不宁腿综合征(RLS)使用RLS评级进行测量。SPSS版本29.0(IBMCorp.,Armonk,NY,美国)用于所有统计分析。二元logistic回归分析用于确定白天过度嗜睡的预测因素,失眠,睡眠呼吸紊乱,和RLS。
    结果:样本包括449名参与者。根据ESS,56.6%(n=254)的学生报告白天过度嗜睡。使用ISI,78.4%(n=352)的学生被发现失眠。柏林调查问卷显示,6.7%(n=30)的学生有睡眠呼吸障碍。此外,13.6%(n=61)的学生报告有RLS。男性学生睡眠呼吸紊乱的几率高于女性(p<0.01)。而婚姻状况显示已婚学生出现睡眠呼吸紊乱的几率更高(p<0.05)。报告夜间睡眠的学生失眠和不宁腿综合征的几率较低(p<0.05)。有规律的睡眠时间与失眠的几率更高(p<0.05)。午睡有时与白天过度嗜睡和睡眠呼吸紊乱的几率更高(p<0.05)。白天和夜班的学生出现睡眠呼吸紊乱的几率更高(p<0.01)。有趣的是,有合并症的学生发生RLS的几率较低(p<0.01)。
    结论:这项研究确定,学生的睡眠障碍显着降低了平均成绩(GPA),受影响最大的是男学生和已婚学生。政府应该实施睡眠教育计划,为睡眠管理提供资源,鼓励一致的睡眠时间表,并针对高危人群提出有针对性的干预措施。还建议对有效的睡眠干预进行更多研究。
    BACKGROUND: University students encounter a variety of sleep problems that have an impact on their health and academic performance. Therefore, the aim of this study was to evaluate the prevalence of sleep disorders and their impact on academic performance among Saudi university students.
    METHODS: This is an online cross-sectional study that involved university students and was conducted between November 2022 and February 2023 in Saudi Arabia. Sleep disorders were examined among undergraduate students through online screening surveys including the Epworth Sleepiness Scale (ESS) to assess excessive daytime sleepiness, the Insomnia Severity Index (ISI) to measure insomnia, and the Berlin questionnaire to examine obstructive sleep apnea (OSA). Restless leg syndrome (RLS) was measured using the RLS rating. SPSS version 29.0 (IBM Corp., Armonk, NY, USA) was used for all statistical analyses. Binary logistic regression analysis was used to identify predictors of having excessive daytime sleepiness, insomnia, sleep-disordered breathing, and RLS.
    RESULTS: The sample included 449 participants. According to the ESS, 56.6% (n=254) of students reported excessive daytime sleepiness. Using the ISI, 78.4% (n=352) of students were found to have insomnia. The Berlin questionnaire indicated that 6.7% (n=30) of students had sleep-disordered breathing. Additionally, 13.6% (n=61) of students reported having RLS. Male students had higher odds of sleep-disordered breathing compared to females (p<0.01), while marital status showed that married students had higher odds of sleep-disordered breathing (p<0.05). Students who reported nighttime sleeping had lower odds of insomnia and restless leg syndrome (p<0.05). Having regular sleeping times was associated with higher odds of insomnia (p<0.05). Napping sometimes was associated with higher odds of excessive daytime sleepiness and sleep-disordered breathing (p<0.05). Students working day and night shifts had higher odds of sleep-disordered breathing (p<0.01). Interestingly, students with comorbidities had lower odds of RLS (p<0.01).
    CONCLUSIONS: This study established that sleep disturbances among students significantly reduce grade point averages (GPAs), where the most affected were male students and those who were married. The government should implement sleep education programs, provide resources for the management of sleep, encourage consistent sleep schedules, and come up with targeted interventions for at-risk groups. More research is also recommended on effective sleep interventions.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    非酒精性脂肪性肝病(NAFLD)的早期识别和治疗可以降低总死亡率。人体测量提供了一种简单且经济有效的方法,可以潜在地改善NAFLD的早期检测并预防其并发症。本研究旨在使用脂肪肝指数(FLI)估计NAFLD的患病率,并评估某些人体测量在预测FLI诊断的NAFLD中的有效性。
    在吉达市的初级卫生保健中心(PHCC)对1264名没有2型糖尿病(T2DM)的沙特人群进行了横断面分析研究。测量包括甘油三酯,γ-谷氨酰转移酶(GGT),糖化血红蛋白(HbA1c),空腹血糖(FPG)。测量颈围(NC),以及体重与身高比(WHtR)和体重与臀部比(WHpR)的计算,和FLI一起,被执行了。NAFLD是在FLI^60的个体中确定的。受试者工作特征(ROC)曲线分析用于评估WHtR的准确性,WHpR,和NC在检测NAFLD中,尤登指数确定了这3个指数的最佳截止点。
    NAFLD的患病率为30.9%。在标记中,WHtR在显示NAFLD方面是最重要的,曲线下面积(AUC)为0.916;而NC和WHpR显示相同的AUC值为0.783。WHtR在识别升高的FLI方面表现出优异的诊断功效,女性性别特异性临界值>0.57,男性>0.61。在所有3个标记中,女性表现出更高的敏感性,特异性,与男性相比,阴性预测值(NPV)。
    WHtR可以作为在没有T2DM的沙特人群中进行NAFLD初步临床筛查的有用工具,以确定可能从更全面的检测中受益的人群。需要进一步的本地研究来确认准确性水平和计算的截止值。
    UNASSIGNED: Early identification and treatment of non-alcoholic fatty liver disease (NAFLD) could reduce overall mortality. Anthropometric measurements offer a simple and cost-effective method to potentially improve early detection of NAFLD and prevent its complications. This study aims to estimate the prevalence of NAFLD using the fatty liver index (FLI) and evaluate the effectiveness of certain anthropometric measurements in predicting NAFLD as diagnosed by FLI.
    UNASSIGNED: A cross-sectional analytical study was conducted with 1264 Saudi population without Type 2 diabetes mellitus (T2DM) non-alcoholic individuals at primary health care centers (PHCCs) in Jeddah city. Measurements included triglycerides, gamma-glutamyl transferase (GGT), glycated hemoglobin (HbA1c), and fasting plasma glucose (FPG). Measurements for neck circumference (NC), and calculations for weight-to-height ratio (WHtR) and weight-to-hip ratio (WHpR), along with FLI, were performed. NAFLD was identified in individuals with an FLI ⩾60. The receiver operating characteristic (ROC) curve analysis was utilized to assess the accuracy of WHtR, WHpR, and NC in detecting NAFLD, with Youden\'s index determining the optimal cutoff points for these 3 indices.
    UNASSIGNED: The prevalence of NAFLD was found to be 30.9%. Among the markers, WHtR emerged as the most significant in indicating NAFLD, achieving an area under the curve (AUC) of 0.916; whereas NC and WHpR exhibited identical AUC values of 0.783. WHtR demonstrated superior diagnostic efficacy for identifying elevated FLI, with gender-specific cutoff values established at >0.57 for females and >0.61 for males. In all 3 markers, females exhibited higher sensitivity, specificity, and negative predictive value (NPV) compared to males.
    UNASSIGNED: WHtR could serve as a useful tool in the initial clinical screening for NAFLD among Saudi population without T2DM to identify those who may benefit from more comprehensive testing. Further local studies are warranted to confirm the levels of accuracy and the calculated cutoffs.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    背景:邻里的环境特征可以积极或消极地影响健康和福祉。迄今为止,没有研究在沙特阿拉伯青年的背景下研究这一概念。因此,本研究旨在评估沙特阿拉伯青年社区环境特征与健康风险因素之间的关系.
    方法:总共335名中学生(175名男生,160名女性),15-19岁,参与。身体质量指数(BMI)和腰围测量,和身体活动(步骤)通过计步器测量。使用国际身体活动问卷环境模块(IPAQ-E)评估感知的邻里环境。
    结果:发现城市青年之间存在显着差异,农村农场,和农村沙漠地区的BMI,腰围,每天的步骤,可访问性,基础设施,社会环境,家用汽车,安全,和使用设施(p<0.001)。农村沙漠青年不那么活跃,与其他地区的年轻人相比,男性(26.438.13)和女性(24.685.03)的BMI更高。卡方分析显示,在社会环境感知方面,性别之间存在显着差异(χ21=12.664,p<0.001)。男性认为他们的社区是一个社会环境,比女性报告的更多(68.39%和50.28%,分别)。皮尔逊相关性显示步骤与邻里安全(r=-0.235,p<0.001)和犯罪率(r=-0.281,p<0.001)之间存在负相关关系。
    结论:地理位置,文化态度,缺乏设施,和可及性影响青年体育活动参与和体重状况;这包括环境变量,如居住密度,邻里安全,家用机动车辆,和社会环境。
    结论:这是第一项调查沙特阿拉伯王国青年与邻里环境关联的研究。发现了显着的关联和地理差异。有必要进行更多的研究和政策干预,以解决与沙特阿拉伯青年相关的社区环境特征和健康风险因素。
    BACKGROUND: A neighbourhood\'s environmental characteristics can positively or negatively influence health and well-being. To date, no studies have examined this concept in the context of Saudi Arabian youth. Therefore, this study aimed to evaluate the association between a neighbourhood\'s environmental characteristics and health risk factors among Saudi Arabian youth.
    METHODS: A total of 335 secondary-school students (175 males, 160 females), aged 15-19 years old, participated. Body mass index (BMI) and waist circumference measurements were taken, and physical activity (steps) was measured via pedometer. The perceived neighbourhood environment was assessed using the International Physical Activity Questionnaire Environment Module (IPAQ-E).
    RESULTS: Significant differences were found between the youths from urban, rural farm, and rural desert locations in terms of BMI, waist circumference, daily steps, accessibility, infrastructure, social environment, household vehicles, safety, and access to facilities (p < 0.001). Rural desert youths were less active, and males (26.43 + 8.13) and females (24.68 + 5.03) had higher BMIs compared to the youths from other areas. Chi-square analysis revealed a significant difference (χ21 = 12.664, p < 0.001) between the genders as to social-environment perceptions. Males perceived their neighbourhood as a social environment more than was reported by females (68.39% and 50.28%, respectively). Pearson\'s correlation revealed negative significant relationships between steps and both safety of neighbourhood (r = -0.235, p < 0.001) and crime rate (r = -0.281, p < 0.001).
    CONCLUSIONS: Geographical location, cultural attitudes, lack of facilities, and accessibility impact youth physical-activity engagement and weight status; this includes environmental variables such as residential density, neighbourhood safety, household motor vehicles, and social environment.
    CONCLUSIONS: This is the first study examining associations with neighbourhood environments in the youths of the Kingdom of Saudi Arabia. Significant associations and geographical differences were found. More research and policy interventions to address neighbourhoods\' environmental characteristics and health risk factors relative to Saudi Arabian youth are warranted.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    Alström综合征是一种影响人体许多系统的遗传疾病。症状可以变化并逐渐出现。儿童肥胖,心脏病(心肌病),视力异常,听力问题是儿童这种疾病的主要症状。糖尿病,肝脏问题,肾功能不全都会随着时间的推移而发生。ALMS1基因的遗传改变是Alström综合征的原因。它具有常染色体隐性遗传模式。我们处理一个20多岁的沙特女人的案子。她最初因2型糖尿病被转诊,从幼年开始智力残疾,代谢性酸中毒,和小颌畸形;然而,她还表现出失明,慢性肾脏病(CKD),听力损失,所有这些都表明Alström综合征。DNA测试表明,她在ALMS基因中具有纯合致病变异。常染色体隐性遗传Alström综合征已被证实为遗传诊断。没有发现与所述表型相关的其他临床上显著的变异。通过报告这种突变,我们希望更多地了解这种疾病的基因型范围,特别是在沙特人口中。每个家庭成员都接受了基因检测,我们为患者及其家人制定了严格的随访计划。
    Alström syndrome is a genetic disease that impacts numerous systems in the human body. The symptoms can vary and appear gradually. Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children. Diabetes mellitus, hepatic issues, and renal dysfunction can all occur over time. Genetic alterations in the ALMS1 gene are the cause of Alström syndrome. It has an autosomal recessive inheritance pattern. We address the case of a Saudi woman in her 20s. She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome. DNA testing showed that she has a homozygous pathogenic variant in the ALMS gene. Autosomal recessive Alström syndrome has been confirmed as a genetic diagnosis. No other clinically significant variations were found that are associated with the mentioned phenotype. By reporting this mutation, we hope to learn more about the genotypic range of the disease, particularly in the Saudi population. As each member of the family underwent genetic testing, we established a stringent follow-up schedule for our patient and her family.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    背景:糖尿病酮症酸中毒(DKA)是一种威胁生命的糖尿病(DM)并发症。它是由于胰岛素水平降低和血液中葡萄糖水平升高而发生的,这使得细胞无法使用葡萄糖作为能量来源,并开始将脂肪分解成酮;血液中酮水平的过载会导致DKA。该研究的目的是评估麦加市糖尿病患者及其护理人员对DKA的认识,沙特阿拉伯。
    方法:本研究是一项横断面研究,通过对麦加市糖尿病患者及其护理人员的在线问卷调查收集。通过使用Google表格以阿拉伯语和英语设计的自我报告问卷,它通过社交媒体以电子方式分发给目标人群,以达到调查的目的。
    结果:共包括400名参与者,其中73%是男性,27%是女性。9%的参与者被诊断为DKA。32.5%的参与者对DKA有很高的认识,而67.5%的人知晓率较差。与对DKA的高认识水平相关的因素是年轻,单身,学生和以前的DKA诊断。
    结论:关于我们对DKA认识不足的参与者,对糖尿病患者及其护理人员进行DKA的进一步教育对于预防危及生命的并发症至关重要,改善这些患者的生活质量。
    BACKGROUND: Diabetic ketoacidosis (DKA) is a life-threatening complication of diabetes mellitus (DM). It occurs due to a decrease in the level of insulin and an increase in the level of glucose in the blood, which makes cells unable to use glucose as an energy source and begin to break fat into ketones; an overload of ketones levels in the blood can lead to DKA. The aim of the study is to assess awareness of DKA among diabetic patients and their caregivers in Makkah City, Saudi Arabia.
    METHODS: This study is a cross-sectional study collected through an online questionnaire of diabetic patients and their caregivers in Makkah City. A self-reported questionnaire designed in Arabic and English through the use of Google Forms, it distributed electronically via social media to the target population with the objectives of the survey.
    RESULTS: A total of 400 participants were included, 73% of them were males, while 27% were females. A 9% of the participants have been diagnosed with DKA. A high awareness level about DKA was found in 32.5% of participants, while 67.5% had a poor awareness level. Factors associated with a high level of awareness towards DKA are young age, being single, students and having a previous DKA diagnosis.
    CONCLUSIONS: Regarding our participants who have poor awareness of DKA, further education for diabetic patients and their caregivers about DKA is crucial to prevent life-threatening complications, and improve quality of life for these patients.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    先前的研究表明跌倒与多种长期疾病(MLTC)或残疾之间存在关联。然而,对于这些因素如何独立或共同导致社区居住的成年人跌倒和跌倒恐惧的风险,了解有限。
    本研究调查了社区成年人中MLTC与残疾和跌倒风险之间的独立关联。
    一项横断面研究包括324名成年人(年龄≥50岁)。人口统计学和临床数据包括年龄,性别,体重指数(BMI),MLTC(≥两种慢性疾病)跌倒风险(即,过去12个月下降的历史,跌倒次数,和反复跌倒)。Barthel指数和国际跌倒疗效量表(FES-I)用于评估残疾和对跌倒的恐惧,分别。
    MLTC(赔率比(OR)2.50,95%置信区间(CI)[1.26,4.95],p=0.009),和残疾(OR1.71,95%CI[1.04,2.79],p=0.034)与跌倒史独立相关。MLTC(发病率比率(IRR)2.87,95%CI[1.93,4.29],p<0.001)和残疾(IRR1.8695%CI[1.46,2.36],p<0.001)与跌倒次数增加独立相关。MLTC(OR4.50,95%CI[1.78,11.36],p=0.001)和残疾(OR2.82,95%CI[1.58,5.05],p<0.001)与反复跌倒独立相关。MLTC(B=6.45,p<0.001)和残疾(B=3.05,p=0.025)与跌倒恐惧增加独立相关。
    这项研究表明,MLTC和残疾都与跌倒独立相关,在这个群体中跌倒的次数和对跌倒的恐惧。
    UNASSIGNED: Previous studies have suggested an association between falls and the presence of Multiple Long-Term Conditions (MLTC) or disabilities. However, there is limited understanding of how these factors independently or collectively contribute to the risk of falls and fear of falling among community-dwelling adults.
    UNASSIGNED: This study examined the independent association between MLTC and the presence of disability with the risk of falls among community adults.
    UNASSIGNED: A cross-sectional study included 324 adults (age ≥ 50). Demographic and clinical data included age, sex, body mass index (BMI), MLTC (≥ two chronic diseases) risk of fall (ie, history of fall in the previous 12-months, number of falls, and recurrent falls). The Barthel Index and Falls Efficacy Scale-International (FES-I) were used to assess disability and fear of fall, respectively.
    UNASSIGNED: MLTC (Odds Ratio (OR) 2.50, 95% Confidence Interval (CI) [1.26, 4.95], p=0.009), and disability (OR 1.71, 95% CI [1.04, 2.79], p = 0.034) were independently associated with history of falls. MLTC (Incidence Rate Ratio (IRR) 2.87, 95% CI [1.93, 4.29], p < 0.001) and disability (IRR 1.86 95% CI [1.46, 2.36], p < 0.001) were independently associated with an increased number of falls. MLTC (OR 4.50, 95% CI [1.78, 11.36], p = 0.001) and disability (OR 2.82, 95% CI [1.58, 5.05], p < 0.001) were independently associated with recurrent falls. MLTC (B = 6.45, p < 0.001) and disability (B = 3.05, p = 0.025) were independently associated with increased fear of falling.
    UNASSIGNED: This study indicated that both MLTC and disability are independently associated with falls, number of falls and fear of falling in this population.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号