A case of sudden cardiac death due to mitochondrial disease

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.     

死亡结构域相关蛋白及其在宫颈病变中的研究进展

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。     

Cardiovascular risk assessment tools: A scoping review

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.     

2019 novel coronavirus disease (COVID-19) in Taiwan: Reports of two cases from Wuhan,China

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.     

Pseudocystic pilomatricoma: A new variant and review of the literature

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.     

Novel natural product-based oral topical rinses and toothpastes to prevent periodontal diseases

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.     

Étude exploratoire de la santé musculo-squelettique du rachis d’étudiants en ostéopathie

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.     

Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report

We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder.