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1.
A 25-year-old, emaciated man without medical treatment was found to have died suddenly at home by his mother. At autopsy, there were no injuries to his body, but significant circulatory insufficiency was observed. Electron microscopy revealed abnormal mitochondria in cells of the cardiac conduction system. The conduction system was filled with mitochondrial size abnormalities and mitochondrial cristae abnormalities. No notable abnormal findings were observed in other organs. Genetic examination of the blood revealed the mitochondrial pathogenetic variant m.3243A>G. Epileptic seizures, diabetic ketoacidosis, and hyperosmolar hyperglycemic state were unlikely to be the cause of sudden death. The cause of death was diagnosed as arrhythmia possibly induced by the failure of the cardiac conduction system due to mitochondrial disease. This is a rare case of sudden death caused by an accumulation of abnormal mitochondria in the cardiac conduction system. 相似文献
2.
背景:原发性线粒体病具有高度的临床和遗传异质性,其中周围神经是线粒体病的常见受累器官之一。
目的:总结COX20基因变异相关周围神经病的临床表型及遗传学特征。
设计:病例系列报告。
方法:回顾性收集2018年5月至2020年5月复旦大学附属儿科医院诊治的COX20基因变异相关周围神经病患儿的临床资料,总结其临床表现、基因检测结果及治疗效果,并以“COX20”、“线粒体复合物Ⅳ缺乏症(Complex Ⅳ deficiency)”为关键词检索中英文数据库。检索时间均为从建库至2021年12月。总结已报道COX20基因变异与临床表型的关系。
主要结局指标:临床表型和COX20基因变异位点。
结果:4例患儿纳入分析,男、女各2例,其中3例自幼运动发育落后。4例均在儿童期起病,均以行走不稳为首发症状。肌电图均提示多发性周围神经损害改变,感觉神经轴索受累为主。4例患儿均携带COX20基因复合杂合变异,包括错义变异2个,无义变异和移码变异各1个,其中移码变异c.262delG(p.E88Kfs*35)尚未见报道。文献复习目前共报道COX基因变异18个家系22例患儿(包括本文病例),起病中位年龄为5(1.0~17)岁,22例均以行走困难或步态不稳起病,11例(50.0%)有精神运动发育迟滞,病程中14例(63.6%)出现构音障碍,14例(63.6%)出现肌力下降和/或足部畸形,8例(36.4%)出现共济失调,6例(27.3%)出现肌张力障碍,5例(22.7%)存在认知倒退等。21例患儿行神经传导及肌电图检查,19例(90.5%)提示多发性周围神经病变。头颅(18例)及脊髓(10例)MR检查提示,脊髓萎缩4例(40%),小脑萎缩4例(22.2%)。9例患儿已无法独立行走,丧失独立行走能力中位年龄为10(7~21)岁。目前共报道9个变异位点,4种变异类型,其中错义变异5个,剪切变异2个,无义变异和移码变异各1个。
结论:COX20基因变异患者多早期起病,以周围神经系统病变为主要表现,可合并构音障碍、共济失调、肌张力障碍、认知倒退等,病情逐渐进展,致残率高。COX20基因变异类型以错义变异最常见。 相似文献
3.
《Bulletin du cancer》2023,110(2):145-150
4.
周蕾 《国际妇产科学杂志》2015,42(1):91-95
宫颈癌对妇女健康构成严重威胁,人乳头瘤病毒感染与宫颈病变及宫颈癌的发生密切相关。关于宫颈癌发生发展的机制仍在研究中。近年研究发现一种多功能核蛋白,即死亡结构域相关蛋白(death domain associated protein,Daxx),其与细胞内蛋白或病毒蛋白相互作用,参与调节细胞凋亡、转录调控、抗病毒等细胞活动,在不同途径中发挥不同的生理或病理作用。通过对Daxx功能及其作用机制的研究有助于进一步阐明宫颈癌发生发展的机制,有助于发现新的预防和治疗方法。综述Daxx的一般特性和研究现况及其在宫颈病变的研究进展。 相似文献
5.
《Australian critical care》2019,32(6):540-559
ObjectivesThe objective of this review was to describe cardiovascular risk (CVR) assessment methods and to identify evidence-based practice recommendations when dealing with population at risk of developing cardiovascular diseases.Review methods and data sourcesA literature review following the Arksey and O'Malley scoping review methodology was conducted. By using appropriate key terms, literature searches were conducted in PubMed, SciELO, Cochrane Library, Dialnet, ENFISPO, Medigraphic, ScienceDirect, Cuiden, and Lilacs databases. A complementary search on websites related to the area of interest was conducted. Articles published in English or Spanish in peer-review journals between 2010 and 2017. Critical appraisal for methodological quality was conducted. Data was extracted using ad-hoc tables and qualitatively synthesized.ResultsAfter eliminating duplicates, 55 325 records remained, and 1432 records were selected for screening. Out of these, 88 full-text articles were selected for eligibility criteria, and finally, 67 studies were selected for this review, and 25 studies were selected for evidence synthesis. In total, 23 CVR assessment tools have been identified, pioneered by the Framingham study. Qualitative findings were grouped into four thematic areas: assessment tools and scores, CVR indicators, comparative models, and evidence-based recommendations.ConclusionsIt is necessary to adapt the instruments to the epidemiological reality of the population. The most appropriate way to estimate CVR is to choose the assessment tool that best suits individual conditions, accompanied by a comprehensive assessment of the patient. More research is required to determine a single, adequate, and reliable tool. 相似文献
6.
《Journal of microbiology, immunology, and infection》2020,53(3):481-484
We reported two cases with community-acquired pneumonia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who returned from Wuhan, China in January, 2020. The reported cases highlight non-specific clinical presentations of 2019 novel coronavirus disease (COVID-19) as well as the importance of rapid laboratory-based diagnosis. 相似文献
7.
Kun‐Yong Sung Seungkoo Lee Yeonjin Jeong Sang‐Yeul Lee 《The Australasian journal of dermatology》2021,62(1):60-63
A classic pilomatricoma, which usually presents with an asymptomatic, solitary, firm, subcutaneous nodule in the head, neck, or extremities of the paediatric population, is easily diagnosed based on its characteristic clinical and histopathological features. However, its variants often pose particular diagnostic challenges to clinicians due to their rarity and diverse clinicopathological features. We present a new pseudocystic variant, manifesting as solid lesions floating in a fluid‐filled sac. 相似文献
8.
There is increasing public interest in natural or herbal-based healthcare products. This trend is not only visible in supermarkets and dental practices, but also in the scientific world. An improving number of clinical trials are being conducted to validate the claims made about these products in regards to periodontal health. Among single component preparations, Aloe vera and green tea are the most studied natural ingredients. Concerning polyherbal mixtures, triphala has garnered great interest. The effects of these natural products on periodontal health is encouraging, with almost all studies showing an inhibitory effect on plaque accumulation and an improvement in gingival health. However, more studies are needed to be able to design clinical guidelines to guide the use of these natural products in periodontal practice. For most of these products, few studies are available and, moreover, the available studies are limited in duration, the number of participants, and the specific composition of the natural product is often not described in detail. 相似文献
9.
10.
《Revue d'épidémiologie et de santé publique》2020,68(2):109-115
BackgroundDuring their training, students in osteopathy regularly undergo spinal manipulation exercises. This exposes the students’ spine to unskilled gestures performed by their colleagues learning spinal manipulation. Discomfort, muscle soreness or moderate pain following spinal manipulations lasting two or three days are commonly reported. In addition, some students may have ongoing spinal musculoskeletal disease (SMSD) during their studies. The purpose of this study was to evaluate the prevalence of SMSDs and their maximum intensity in a population of osteopathy students and to determine whether individual differences exist.MethodAn exploratory cross-sectional study took place over three years. Data were collected by means of a self-administrated standardised questionnaire screening for MSD: the Nordic questionnaire.ResultsThere were 733 exploitable questionnaires, giving an average response rate of 91.5%. Average prevalence of SMSD was 98.4% during the last 12 months. Average maximum intensity perceived was 6/10 and 45% of students experienced an intense SMSD (scored between 7 and 10/10). Variation of the maximum intensity of SMSD between “before osteopathy studies” and “the last 12 months” was 1.2/10. This variation was influenced by the number of days students were manipulated during a week (p < 0.0001). On average, students underwent manipulation three days a week.ConclusionThis study confirms the important prevalence of SMSD among osteopathy students. This result led us to carry out a qualitative study for exploring students’ conceptions in health and spinal manipulative practices. 相似文献