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Challenges in Disease and Health Research Vol. 9最新文献

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Study on Rare Metabolic Disorder (Primary Hyperoxaluria Type 1) among Children: Perspectives to Genotyping and Outcome 儿童罕见代谢性疾病(原发性高草酸尿1型)的研究:基因分型和结果的观点
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/8613d
M. A. Riyami, Badria Al Ghaithi, N. Hashmi, Naifain Al Kalbani
Background: Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterogeneous even in children from the same family; this study was conducted to determine the clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral center in Oman. Method: Retrospective review of children diagnosed with PH1 at a tertiary hospital in Oman from 2000 to 2013. Results: Total of 18 children were identified. Females composed 61% of the children with median presentation age of 7 months. Severe renal failure was initial presentation in 39% and 22% presented with nephrocalcinosis and/or renal calculi. Family screening diagnosed 39% of patients. Fifty percent of the children underwent hemodialysis. 28% of children underwent organ transplantation. The most common mutation found in Omani children was c.33-34insC mutation in the AGXT gene. Conclusion: Due to consanguinity, PH1 is a common cause of ESRD in Omani children. Genetic testing is recommended to help in family counseling and helps in decreasing the incidence and disease burden; it also could be utilized for premarital screening. This report is the first from Oman and the gulf region; it highlights the huge disease burden of an autosomal recessive mutation and importance of family screening and genetic counseling.
背景:原发性高草酸尿是一类罕见的常染色体隐性遗传代谢疾病。它是由AGXT基因的基因突变引起的,由于发展中国家的血亲率较高,这种基因突变更为常见。即使来自同一家庭的儿童,其临床表现也不尽相同;本研究旨在确定阿曼一家三级转诊中心诊断为PH1的儿童的临床特征、AGXT突变类型和预后。方法:回顾性分析2000 - 2013年在阿曼某三级医院诊断为PH1患儿的资料。结果:共鉴定出18例患儿。中位发病年龄为7个月的患儿中,61%为女性。39%的患者首发表现为严重肾功能衰竭,22%的患者首发表现为肾钙质沉着和/或肾结石。家庭筛查诊断出39%的患者。50%的儿童接受了血液透析。28%的儿童接受了器官移植。阿曼儿童中最常见的突变是AGXT基因中的c.33-34insC突变。结论:由于血亲关系,PH1是阿曼儿童ESRD的常见病因。建议进行基因检测,以帮助进行家庭咨询,并有助于减少发病率和疾病负担;它也可用于婚前筛查。这是阿曼和海湾地区的第一份报告;它突出了常染色体隐性突变的巨大疾病负担以及家庭筛查和遗传咨询的重要性。
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引用次数: 0
A Yogic Dynamic Executive Function Frame Work for Linking Attention, Adjustment and Cognitive Flexibility of School Children 学龄儿童注意、适应和认知灵活性的瑜伽动态执行功能框架
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/8755d
Ankita Mishra, G. P. Gowda
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引用次数: 0
Chylothorax Associated with Acute Lymphoblastic Leukemia 乳糜胸与急性淋巴细胞白血病相关
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/8787d
Mehmet Can Uğur, U. Ergene
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引用次数: 0
Dietary Patterns in Alzheimer’s Disease. Preventive Role of L-carnitine and Supplementation with L-Carnitine and Its Derivatives 阿尔茨海默病的饮食模式。左旋肉碱的预防作用及补充左旋肉碱及其衍生物
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/8542d
A. Kępka, Agnieszka Ochocińska, M. Borzym-Kluczyk, E. Skorupa, B. Stasiewicz-Jarocka, S. Chojnowska, N. Waszkiewicz
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引用次数: 0
Autism Spectrum Disorder: Neurobiological Growth and Development Treatment Options 自闭症谱系障碍:神经生物学生长和发育治疗方案
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/9826d
Adam J. McTighe
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引用次数: 0
Coronavirus Disease-19 - Multi-dimensional Analysis on Incidence Rates- A Global Perspective Study 冠状病毒病-19 -发病率多维度分析-全球视角研究
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/2658f
H. Magd, H. Karyamsetty
The world has been impacted severely by COVID-19 pandemic and the spread of the COVID -19 is not under control as confirmed cases are still reported globally. Based on the literature review where it was suggested that the incidence rates of COVID-19 are related to environmental factors existing locally and therefore it is important to examine the diversified environmental and meteorological factors that are contributing to the disease transmission and infection rates that subsequently facilitates better management of future outbreaks and crisis. The current study explores and investigates the significance of population dynamics, dew point and altitudinal factors on incidence rates of COVID -19 across different geographical regions. Data from 129 countries are collected pertaining to the parameters of the study and each parameter is examined to know the degree of association with the confirmed cases. The study results show that the city fraction rate combining with latitude ranges substantially can predict to varying levels the incidence rate of SARS-CoV-2. Additionally, the study suggested also countries having city fraction rate in specific range has affinity to show increase in daily confirmed cases.
当前,新冠肺炎疫情对全球造成严重影响,疫情蔓延尚未得到控制,全球仍有确诊病例报告。根据文献综述,建议COVID-19的发病率与当地现有的环境因素有关,因此重要的是要研究导致疾病传播和感染率的多种环境和气象因素,从而有助于更好地管理未来的疫情和危机。本研究探讨了不同地理区域的人口动态、露点和海拔因素对COVID -19发病率的影响。收集了来自129个国家的有关该研究参数的数据,并检查了每个参数,以了解与确诊病例的关联程度。研究结果表明,结合纬度范围的城市分异率可以在不同程度上预测SARS-CoV-2的发病率。此外,该研究还表明,城市比例在特定范围内的国家对每日确诊病例的增加具有亲和力。
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引用次数: 0
Advances in Bronchoscopic Simulation Training 支气管镜模拟训练的进展
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/9334d
J. Kastelik, S. Ajab, M. Loubani
Flexible bronchoscopy is an essential skill for clinicians amongst several disciplines including critical care, respiratory medicine and thoracic surgery. Traditionally this skill has been taught using the apprenticeship model which has recognised limitations with regards to patient safety, procedural volume and variability amongst training. Simulation based bronchoscopy training allows for learning in a safe, low stress environment with zero patient harm and provides an opportunity for deliberate repeated practice. Simulation based training has gained increasing acceptance with high quality evidence demonstrating accelerated bronchoscopy skill acquisition, improvements in muscle memory and hand-eye coordination with greater trainee satisfaction. Studies have also supported the transfer of skills from simulation training to clinical practice. Simulation training can be delivered using high fidelity simulators or low fidelity simulation, the latter most commonly involving inanimate models. Low fidelity models lack realism, adaptation and application for specific pathologies, though data demonstrates greater success at bronchoscopy assisted intubation when compared with traditional approaches to training. High fidelity simulators including virtual reality bronchoscopy simulators provide a highly realistic environment with the added advantage of integrated feedback features and assessment through quantitative measurements of objective data. Simulation allows for both standardisation of bronchoscopic training and of assessment of competency using tools such as the Endobronchial Ultrasound-guided Transbronchial Needle Aspiration questionnaire and Bronchoscopy Skills and Tasks Assessment tool. Despite the numerous benefits of simulation based training adoption has been slow and inconsistent, which may be attributed to trainer preferences for traditional training methods, the costs involved with simulation equipment and the time required to introduce simulation based training programmes.
灵活的支气管镜检查是临床医生在包括重症监护,呼吸医学和胸外科在内的几个学科中的基本技能。传统上,这项技能是通过学徒模式教授的,这种模式在患者安全、程序量和培训中的可变性方面存在局限性。基于模拟的支气管镜训练允许在安全、低压力、零患者伤害的环境中学习,并为故意重复练习提供机会。基于模拟的训练越来越被接受,有高质量的证据表明,加速了支气管镜检查技能的习得,肌肉记忆和手眼协调的改善,提高了学员的满意度。研究也支持从模拟训练到临床实践的技能转移。模拟训练可以使用高保真模拟器或低保真模拟器进行,后者通常涉及无生命模型。尽管数据显示与传统训练方法相比,在支气管镜辅助插管方面取得了更大的成功,但低保真度模型缺乏真实感、适应性和对特定病理的应用。包括虚拟现实支气管镜模拟器在内的高保真模拟器提供了一个高度逼真的环境,并通过客观数据的定量测量提供了综合反馈功能和评估的额外优势。模拟允许标准化的支气管镜训练和能力评估使用工具,如支气管超声引导下的经支气管针抽吸问卷和支气管镜技能和任务评估工具。尽管采用基于模拟的培训有许多好处,但进展缓慢且不一致,这可能归因于培训师对传统培训方法的偏好,以及涉及模拟设备的成本和引入基于模拟的培训方案所需的时间。
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引用次数: 0
Ten Years after the Great Earthquake Hit 大地震发生十年后
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/9726d
Jin Sasaki
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引用次数: 0
A Case Report on Sheehan’s Syndrome 希恩氏综合征1例报告
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/2093f
A. Reddy, A. Giri
Sheehan's Syndrome refers to hypopituitarism that develops after a severe postpartum haemorrhage (PPH).Sheehan's Syndrome has become a rare entity in developed countries due to good obstetric care. In the Indian context, it is still a rare and serious problem. The severity of the pituitary necrosis determines the timing of presentation, with severe cases presenting immediately and less severe cases presenting years or decades later. At the time of her premature twin pregnancy delivery, a young woman had preeclampsia, antepartum haemorrhage, and postpartum haemorrhage. She presented with secondary amenorrhoea three years later. The diagnosis was confirmed by symptoms such as weakness, hypotension, cold intolerance, loss of sexual hair, breast and vulval atrophy, and loss of libido. ACTH, TSH, FSH, LH, Prolactin, as well as Estradiol, Cortisol, and Sodium levels were all low, confirming the diagnosis. Hormone replacement therapy with Cortisone, Thyroxine, Estrogen and Progesterone improved her general condition. Her menstrual cycles have been restored, her genital organs have been rejuvenated, and her libido has been regained. Less severe forms of Sheehan’s syndrome are insidious in onset, vague in presentation and so are under diagnosed.
希恩综合征是指严重产后出血(PPH)后出现的垂体功能减退症。由于良好的产科护理,希恩氏综合征在发达国家已经成为一种罕见的疾病。在印度,这仍然是一个罕见而严重的问题。垂体坏死的严重程度决定了出现的时间,严重者立即出现,轻者在数年或数十年后出现。在她的早产双胎分娩时,一个年轻的妇女有先兆子痫,产前出血,产后出血。三年后继发性闭经。以虚弱、低血压、不耐寒、性毛脱落、乳房和外阴萎缩、性欲减退等症状确诊。ACTH、TSH、FSH、LH、催乳素、雌二醇、皮质醇和钠水平均较低,证实了诊断。用可的松、甲状腺素、雌激素和黄体酮进行激素替代治疗改善了她的一般情况。她的月经周期恢复了,生殖器官恢复了活力,性欲也恢复了。不太严重的希恩氏综合征发病隐匿,表现模糊,因此诊断不足。
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引用次数: 0
The Combination of L-lysine and Alloxan Induces Acute Necrotizing Pancreatitis in Rats: A Recent Study l -赖氨酸联合四氧嘧啶诱导大鼠急性坏死性胰腺炎的最新研究
Pub Date : 2021-06-30 DOI: 10.9734/bpi/cdhr/v9/9803d
J. Méndez, Jianling Xie, Verna Méndez-Valenzuela, J. L. Martinez
The purpose of this study was to evaluate the L-lysine effect on the pancreas of induced diabetic rats. Adult male Sprague-Dawley rats were divided into four groups (N = 6 rats per group) and researched for 20 days. Group I: Control (saline solution, i.p.). Group II: Rats treated with 10 mM L-lysine. Group III: Rats treated with 120 mg/kg alloxan (diabetic control). Group IV: Rats treated with alloxan plus L-lysine. Blood was drawn from the aorta to determine glucose, triglycerides, and cholesterol levels. Glucose levels in Group III rats increased as predicted. A loss of body weight was also observed (p < 0.001). On day 10 of the experiment, rats in Group IV had higher glucose concentrations than diabetic control rats. The findings show that L-lysine administration to intact animals had an effect on the pancreas. Pancreatic damage was increased in animals that had previously received alloxan injections. It is obvious that a single dose of L-lysine resulted in hyperglycemia. When L-lysine is combined with alloxan, this effect is amplified. These findings allow us to propose a new model of acute pancreatitis in rats.
本研究旨在探讨l -赖氨酸对糖尿病大鼠胰腺的影响。将成年雄性sd大鼠分为4组,每组6只,研究20 d。第一组:对照组(生理盐水溶液,静脉滴注)。II组:大鼠给予10 mM l -赖氨酸。第三组:给药120 mg/kg四氧嘧啶(糖尿病对照组)。第四组:四氧嘧啶加l -赖氨酸给药。从主动脉抽血测定葡萄糖、甘油三酯和胆固醇水平。第三组大鼠的血糖水平如预期的那样升高。体重的减少也被观察到(p < 0.001)。实验第10天,IV组大鼠血糖浓度高于糖尿病对照组大鼠。研究结果表明,完整动物服用l -赖氨酸对胰腺有影响。先前接受四氧嘧啶注射的动物胰腺损伤增加。很明显,单剂量赖氨酸导致高血糖。当l -赖氨酸与四氧嘧啶结合时,这种效果被放大。这些发现使我们提出了一种新的大鼠急性胰腺炎模型。
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Challenges in Disease and Health Research Vol. 9
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