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A Family with Autosomal Dominant Inheritance of Type 1 Waardenberg Syndrome 1型Waardenberg综合征常染色体显性遗传家族
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.335
Fadhlullah Latama, Habibah S. Muhiddin Budu, A. M. Ichsan, M. Akib, A. T. Poli
TIntroduction: Waardenberg syndrome is a rare condition characterised by heterochromia or bright blue irides, hypertelorism due to wider nasal bridge, sensory neural deafness and hypopigmentation of the skin and hair (poliosis). It is usually inherited in autosomal dominant pattern, however it can also be recessive Objective: To report clinical manifestations of type 1 Waardenberg Syndrome in a family of four generations. Case Presentation: Ten members of a family presented manifestations of Waardenberg Syndrome. Three of them had bright blue irides in both eyes, 4 had heterochromia. Two of the members with bright blue irides also had sensorineural hearing loss, poliosis accompanied by broad nasal bridge. Three others only showed hypertelorism and poliosis. All members of the family had normal visual acuity. There is no history of consanguineous marriage reported. Conclusion: The family in this case presumably inherited autosomal dominant of type 1 Waardenberg syndrome.
Waardenberg综合征是一种罕见的疾病,其特征是异色或亮蓝色虹膜,鼻梁较宽导致的远视,感觉神经性耳聋和皮肤和头发色素沉着减少(脊髓灰质炎)。它通常以常染色体显性遗传,但也可以是隐性遗传。目的:报告1型华登堡综合征家族四代人的临床表现。病例介绍:一个家庭的十名成员出现了瓦尔登堡综合征的表现。其中3人双眼有亮蓝色虹膜,4人有异色症。两名亮蓝色虹膜的成员还患有感音神经性听力丧失,脊髓灰质炎伴鼻梁宽。另外三个人只表现出远视和脊髓灰质炎。所有家庭成员的视力都很正常。没有近亲婚姻史的报道。结论:本病例家族可能遗传常染色体显性1型Waardenberg综合征。
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引用次数: 0
A Short Note on the Recently Published Articles In Annals 0f Clinical and Laboratory Research 《临床与实验室研究年鉴》近期发表文章的简要说明
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.333
Anusha Polampelli
Our main is to bring together all the articles and their scope under one roof, the annals of clinical and laboratory research is a peer review journal that bring all the advancements in the clinical research. Our main motto is to keep the information or knowledge up to date so that it will be easily conveyed to the readers of our journal.
我们的主要目的是汇集所有的文章和他们的范围在一个屋檐下,临床和实验室研究年鉴是一个同行评议的杂志,带来了临床研究的所有进展。我们的主要座右铭是保持信息或知识的最新,以便它将很容易地传达给我们杂志的读者。
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引用次数: 0
Overview of Advances in Transcatheter Aortic Valve Implantation 经导管主动脉瓣植入术进展综述
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.343
E. Koifman
In recent years, transcatheter aortic valve implantation (TAVI) has been shown to be a valid option of treatment for patients with severe aortic stenosis requiring valve therapy. Initially shown to be equivalent to surgical aortic valve replacement (SAVR) in prohibitive and high surgical risk patients, TAVI gradually expanded to intermediate and lower risk patients, the devices have evolved and improved with lower delivery profile and improved sealing to prevent paravalvular leak along with various techniques such as transcaval, transaxilary and transcarotid, enabling percutaneous treatment in challenging anatomies. In addition, additional devices were developed to improve patient safety by stroke prevention during the procedure and bleeding prevention during access closure. These advances in TAVI procedure were translated to improved patient outcome with superiority of TAVI over SAVR in low-risk patients and expansion of TAVI indication to challenging anatomies and lower risk patients.
近年来,经导管主动脉瓣植入术(TAVI)已被证明是治疗需要瓣膜治疗的严重主动脉瓣狭窄患者的有效选择。TAVI最初被证明与外科主动脉瓣置换术(SAVR)相当,用于禁忌症和高手术风险的患者,逐渐扩展到中低风险患者,该装置已经发展和改进,具有更低的输送轮廓和更好的密封,以防止瓣旁泄漏,以及各种技术,如经颅、经腋和经颈动脉,使经皮治疗在具有挑战性的解剖结构中成为可能。此外,还开发了其他设备,通过在手术过程中预防中风和在通道关闭期间预防出血来提高患者安全。TAVI手术的这些进展转化为患者预后的改善,在低风险患者中TAVI优于SAVR,并将TAVI适应症扩展到具有挑战性的解剖结构和低风险患者。
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引用次数: 0
Effective Interventions to Reduce and Prevent Functional and Health-Associated Impairments in Elderly 减少和预防老年人功能和健康相关损伤的有效干预
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.368
S. Javaria
Participation in a standard exercise program is a compelling intercession to diminish and forestall various practical and wellbeing related weaknesses known to happen with propelling age. Useful advantages of standard exercise remember increments for cardiovascular wellness, muscle strength, and practical limit, permitting more established people to keep up with their autonomy and unreservedly take an interest in day by day exercises. What's more, routine exercise, intense exercise, or both can forestall or extraordinarily weaken the age-related expansions in hazard factors for coronary illness. Taken together, these advantages related with ordinary exercise can fundamentally work on the personal satisfaction in more established populaces.
参加一个标准的锻炼计划是一个令人信服的代祷,以减少和预防各种实际和健康相关的弱点,众所周知,随着年龄的增长而发生。标准运动的好处是增加心血管健康,肌肉力量和实际限制,允许更成熟的人保持他们的自主性,毫无保留地对每天的运动感兴趣。更重要的是,日常锻炼、高强度锻炼或两者兼而有之,都能预防或显著削弱与年龄相关的冠心病危险因素的增加。综上所述,这些与日常锻炼相关的优势可以从根本上提高更成熟人群的个人满意度。
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引用次数: 0
Prospective Interventional Study to Evaluate the Effect of a Medical Device Made of Substances in Reducing Signs and Symptoms in Patients with Hemorrhoidal Disease 评价物质制医疗器械减轻痔疮患者体征和症状效果的前瞻性介入研究
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.345
Podda Mariangela, Laureti, Sílvio, Gentilini Lorenzo, Vittori Laura, Poggioli, Gilberto
Background and Aim: Hemorrhoidal Disease (HD) is a chronic pathology and is fairly common in the general population. For this reason, conservative therapies need to be at the same time effective and tolerated. The topical medications available usually contain either a combination of local anesthetics with antiâ?inflammatories or muscle relaxants, thus addressing a single mechanism, if any, of those that underlie symptoms onset. As a consequence, evidence of efficacy of these drugs is currently limited and the needed tolerability and safety from a topical treatment of HD is not always evident. The aim of the present study was to evaluate efficacy and tolerability of a 100% natural ointment, a medical device made of substances, for the symptomatic treatment of HD. Methods: Symptomatic grade I or II HD patients with 0-100 VAS score for HD-related discomfort ≥ 30 were treated for 10 days. Outcome measures included variation of HD subjective symptoms (discomfort, pain, itching and burning) and objective signs (bleeding and anal leakage) at day 3, 7 and 10, and the presence of prolapse after treatment. Statistical analysis: For the analysis of  primary endpoint (i.e. reduction of discomfort), missing data in the full analysis set (FAS) population were replaced using the “Last Observation Carried Forward” (LOCF) method. For the analyses of the secondary end point, Poisson mixed model was used to evaluate symptom variation (VAS). Bleeding and anal leakage were recoded as negative or positive in two different variables (grade 1 and 2) derived from their frequency (i.e., for grade1, each of the clinical signs was considered Negative if the patient reported frequency was “Never”; recoded as Positive if any other frequency category was reported) and frequencies of positive patients in each grade were compared by Logistic Mixed model. Mixed models were used to take in account repeated data for the same subject. Missing values in quantitative data analysing by Mixed model were imputed by statistical interpolation. In analysing bleeding, anal leakage and presence of prolapse in FAS population, missing data where either replaced using the LOCF method or imputed as positive (i.e., worst case). Results: 45 patients were enrolled. Data showed a significant reduction of discomfort in treated patients both during and after treatment (p<0.001 at all-time points evaluated), with a median VAS score decrease of 30 points after treatment when compared to baseline. The same significant reduction (p<0.001) was shown for all other symptoms either at the end of treatment or at earlier time points, both in PP and FAS populations. As for objective signs, a significant reduction was observed, at each time point compared to baseline, in the number of patients from the PP population positive for bleeding (p<0.001) and anal leakage (p<0.05). A similar evolution was shown in FAS population, where reduction was progressive over the 10-day treatment and statistically significant or
背景与目的:痔疮病(HD)是一种慢性疾病,在普通人群中相当常见。因此,保守疗法需要同时有效和耐受性。可用的局部药物通常包含局部麻醉剂和anti ?ÂÂ炎症或肌肉松弛剂,从而解决一个单一的机制,如果有的话,那些潜在的症状发作。因此,这些药物有效性的证据目前是有限的,局部治疗HD所需的耐受性和安全性并不总是很明显。本研究的目的是评估100%天然软膏的疗效和耐受性,这是一种由物质制成的医疗器械,用于对HD的对症治疗。方法:有症状的1级或2级HD患者,VAS评分0-100,HD相关不适≥30分,治疗10天。结果测量包括HD主观症状(不适、疼痛、瘙痒和灼烧)和客观体征(出血和肛门漏)在第3、7和10天的变化,以及治疗后出现脱垂。统计分析:对于主要终点(即减少不适)的分析,使用“最后一次观察结转”(LOCF)方法替换完整分析集(FAS)人群中的缺失数据。次要终点分析采用泊松混合模型评价症状变异(VAS)。出血和肛门漏在两个不同的变量(1级和2级)中被重新编码为阴性或阳性,这两个变量是由其频率得出的(即,对于1级,如果患者报告的频率为“从未”,则每个临床症状都被认为是阴性;如果报告了其他频率类别,则将其记为阳性),并通过Logistic混合模型比较每个级别中阳性患者的频率。混合模型用于考虑同一受试者的重复数据。采用统计插值法对混合模型定量数据分析中的缺失值进行补全。在分析FAS人群的出血、肛漏和脱垂时,缺失的数据要么是用LOCF方法替代,要么是输入为阳性(即最坏情况)。结果:45例患者入组。数据显示,在治疗期间和治疗后,治疗患者的不适感显著减少(在评估的所有时间点上p<0.001),与基线相比,治疗后VAS评分中位数下降了30分。在PP和FAS人群中,在治疗结束或更早的时间点,所有其他症状均显示出同样的显著降低(p<0.001)。客观体征方面,与基线相比,各时间点PP人群中出血(p<0.001)和肛门漏(p<0.05)阳性的患者数量显著减少。在FAS人群中也显示出类似的进化,在10天的治疗中,减少是渐进的,与使用的归算方法无关,在统计学上显著或几乎显著。在基线时出现脱垂的10例患者中,有6例在治疗后脱垂不再明显。未发现与治疗相关的不良事件。结论:研究物质制成的IIb类医疗器械是一种有效、耐受性高、安全的治疗I、II级HD的医疗管理选择。试验注册NCT03545724 2018.06.04。
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引用次数: 1
Primary Cutaneous aspergillosis: Rash in an Infant Born with Less Weight 原发性皮肤曲霉病:出生体重较轻婴儿的皮疹
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.367
Mamatha Dereddy
Primary cutaneous aspergillosis (PCA) is one of several invasive fungal infections that have increased in incidence in the last four decades. We present an instance of an amazingly low birth weight newborn child brought into the world at 24 weeks growth determined to have cutaneous aspergillosis, featuring the danger factors and clinical discoveries related with neonatal PCA. Furthermore, we talk about utilization of serum galactomannan testing just as mix amphotericin B and voriconazole treatment. Early acknowledgment of injuries normal for PCA is needed to guarantee brief finding and treatment, conceivably forestalling scattering with ideal results [1].
原发性皮肤曲霉病(PCA)是几种侵袭性真菌感染之一,在过去的四十年中发病率有所增加。我们提出了一个令人惊讶的低出生体重新生儿在24周出生时被确定患有皮肤曲霉病的例子,包括与新生儿PCA相关的危险因素和临床发现。此外,我们还讨论了血清半乳甘露聚糖检测在两性霉素B和伏立康唑混合治疗中的应用。早期确认PCA正常的损伤是必要的,以保证短暂的发现和治疗,可以想象的是,在理想的结果中预防分散[1]。
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引用次数: 0
Varicella Hospitalizations and Community-Acquired Methicillin-Resistant Staphylococcus aureus: Seven Years of Active Surveillance 水痘住院和社区获得性耐甲氧西林金黄色葡萄球菌:七年的主动监测
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.354
E. Chacon-Cruz, E. Lopatynsky-Reyes, David López-Martínez, Angel De La Torre-Gomez
Introduction: In Mexico, universal Varicella vaccination is not part of the National Immunization Program. Community-Acquired Methicillin-Resistant Staphylococcus Aureus (CA-MRSA) infection is increasing worldwide. CA-MRSA infection in children with Varicella has scarcely been reported. Methods and Findings: From January-2012 to December-2018, we performed active surveillance for children <16 years of age hospitalized with Varicella at the Tijuana General Hospital, Mexico. To all patients with suspected bacterial super infection, a culture sampling was conducted. CA-MRSA was described and identified by both in vitro resistance to methicillin and other isoxazolyl penicillins and by identifying the gene mec-A by PCR. A total of 40 patients were enrolled. The median age at admission was 20.5 months (1-190). All but 4 (10%) were previously healthy children. None were vaccinated against Varicella. Cellulitis (with/without abscess) was the leading complication (50%), with 70% CA-MRSA identified in abscesses. Septicemia/bacteremia was present in 10 (25%), blood isolation was confirmed in seven (3 S. aureus (all CA-MRSA), 2 S. pyogenes, 1 S. pneumoniae, 1 E. coli). Conclusion: Hospitalizations by Varicella in our Hospital are not infrequent; they are associated with high morbidity and relatively low mortality. The leading complication was bacterial super infection represented by soft-tissue infections and bacteremia/septicemia mostly due to CA-MRSA. Keywords: Varicella; Methicillin-Resistant Staphylococcus Aureus (MRSA); Community Acquired Methicillin-Resistant Staphylococcus Aureus (CA-MRSA); Varicella vaccine; Antibiotic control
简介:在墨西哥,普遍的水痘疫苗接种不是国家免疫规划的一部分。社区获得性耐甲氧西林金黄色葡萄球菌(CA-MRSA)感染在世界范围内呈上升趋势。CA-MRSA感染儿童水痘几乎没有报道。方法和发现:2012年1月至2018年12月,我们对墨西哥蒂华纳总医院住院的<16岁水痘儿童进行了主动监测。对所有疑似细菌超感染的患者进行培养取样。CA-MRSA通过甲氧西林和其他异恶唑青霉素的体外耐药和PCR鉴定基因mec-A来描述和鉴定。共有40名患者入组。入院时中位年龄为20.5个月(1-190岁)。除4例(10%)外,其余均为以前健康的儿童。没有人接种水痘疫苗。蜂窝织炎(伴/不伴脓肿)是主要并发症(50%),脓肿中发现70% CA-MRSA。败血症/菌血症10例(25%),血液分离7例(金黄色葡萄球菌3例(均为CA-MRSA),化脓性葡萄球菌2例,肺炎葡萄球菌1例,大肠杆菌1例)。结论:我院因水痘住院的病例并不少见;它们与高发病率和相对较低的死亡率有关。主要并发症为以软组织感染为代表的细菌超感染和CA-MRSA引起的菌血症/败血症。关键词:水痘;耐甲氧西林金黄色葡萄球菌(MRSA);社区获得性耐甲氧西林金黄色葡萄球菌(CA-MRSA);水痘疫苗;抗生素控制
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引用次数: 0
Research and Recent Advancements on Multiple Sclerosis 多发性硬化症的研究与进展
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.339
Áron
Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) of presumed autoimmune origin which develops in a genetic susceptible individual triggered by additional environmental factors. In this review we'll provide an update of basic pathogenic concepts. In addition, we'll discuss newly evolving concepts in MS pathogenesis like pathogenic heterogeneity, importance of axonal loss and therefore the role of CD8+ T lymphocytes in tissue injury.
多发性硬化症(MS)是一种中枢神经系统(CNS)的慢性炎症性疾病,假定起源于自身免疫,在遗传易感个体中发展,由额外的环境因素触发。在这篇综述中,我们将提供一个基本的致病概念的更新。此外,我们将讨论MS发病机制的新发展概念,如致病异质性,轴突损失的重要性以及CD8+ T淋巴细胞在组织损伤中的作用。
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引用次数: 0
Short Communication on Anesthesiology 麻醉学简短交流
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.356
Anusha Polampelli
Anesthesiology the medical specialty involved with the full perioperative care of patients before, throughout, and once surgery, it encompasses physiologicalstate, medical care drugs, vital medicine, and pain drugs. A Doctorspecialized during this field of medication is termed AN anesthesiologist. The core part of the specialty is that the study and use of physiological state and anesthetics to soundly support a patient's important functions through the perioperative amount. Since the nineteenth century, Anesthesiology has developed from an experimental space with non-specialist practitioner’s exploitation novel, untested medication, and techniques into what is currently an extremely refined, safe, and effective field of medication. In some countries anesthesiologists comprise the biggest single cohort of doctors in hospitals, and their role will extend so much on the far side the standard role of physiological state care within as well as fields like providing pre-hospital medicine, running medical care units, transporting critically unwell patients between facilities, and rehabilitation programs to optimize patients for surgery.
麻醉学是一门在手术前、手术中和手术后对病人进行全面围手术期护理的医学专业,它包括生理状态、医疗护理药物、重要药物和止痛药。专门从事这一领域药物治疗的医生被称为麻醉师。本专业的核心部分是研究和使用生理状态和麻醉药,通过围手术期的量来良好地支持患者的重要功能。自19世纪以来,麻醉学已经从一个非专业从业者开发新颖,未经测试的药物和技术的实验空间发展成为目前一个极其精细,安全和有效的药物领域。在一些国家,麻醉师是医院中最大的医生队伍,他们的作用远远超出了生理状态护理的标准作用,也超出了提供院前医疗服务、运营医疗护理单位、在不同设施之间运送重病患者以及为优化患者手术进行康复计划等领域。
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引用次数: 0
A Short Note on Multiple Sclerosis and its Types 关于多发性硬化症及其类型的简短说明
Pub Date : 2021-01-01 DOI: 10.36648/2386-5180.21.9.363
Gowthami Bainaboina
Multiple sclerosis is a chronic disease which effects the central nervous system, especially the brain, spinal cord, and optic nerves. This can lead to many symptoms in the body Scientists do not know exactly what causes MS, but they believe it is an autoimmune disorder that affects the central nervous system (CNS). When a person has an autoimmune disease, the immune system attacks healthy tissue in the body, just as it might attack a virus or bacteria, In the case of MS, the immune system attacks the myelin sheath that surrounds and protects the nerve fibers, which causes inflammation. Myelin also helps the nerves conduct electrical signals quickly and efficiently.
多发性硬化症是一种慢性疾病,影响中枢神经系统,特别是大脑、脊髓和视神经。这可能会导致身体出现许多症状,科学家们不知道MS的确切病因,但他们认为这是一种影响中枢神经系统(CNS)的自身免疫性疾病。当一个人患有自身免疫性疾病时,免疫系统会攻击身体的健康组织,就像它可能攻击病毒或细菌一样。在多发性硬化症的情况下,免疫系统会攻击包围和保护神经纤维的髓鞘,从而导致炎症。髓磷脂还能帮助神经快速有效地传导电信号。
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引用次数: 0
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