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.     

The effect of education given to type 2 diabetic individuals on diabetes self-management and self-efficacy: Randomized controlled trial

AimThis study used a randomized controlled trial design and was carried out to examine the effect of education on diabetes self-management and self-efficacy in patients with type 2 diabetes.MethodsThe study was carried out between July 2016–March 2017. Data were collected using information form, Diabetes Self-Management Questionnaire (DSMQ), self-efficacy scale for patients with type 2 diabetes (DSS).The individuals in the experimental group were given education. Both groups were reminded about the control time of their metabolic values on the phone in the 3rd and 6th months.ResultsThe average age of the individuals was 59.91 ± 8.93 (n = 78), 62.8% (n = 49) were female, 92.3% (n = 72), were married, 42.3% (n = 33) were high school graduates and their diabetes duration was 7.05 ± 3.9. There was a statistically significant difference in the 6th month metabolic values in the experimental group compared to the control group. When diabetes self-management and self-efficacy were examined, a statistically significant difference was found in the experimental group compared to the control group at 3rd and 6th months (p < 0.05, p < 0.01).ConclusionIn this study, a significant increase in diabetes self-management and self-efficacy and a significant decrease in metabolic values were observed as a result of education and phone reminders given to individuals with type 2 diabetes.     

Diffusion-weighted MRI and PET/CT reproducibility in epithelial ovarian cancers during neoadjuvant chemotherapy

PurposeTo investigate the reproducibility of diffusion-weighted (DW) MRI and ¹⁸F-Fluorodeoxyglucose (¹⁸F-FDG)-Positron emission tomography/CT (PET/CT) in monitoring response to neoadjuvant chemotherapy in epithelial ovarian cancer.Materials and methodsTen women (median age, 67 years; range: 41.8–77.3 years) with stage IIIC-IV epithelial ovarian cancers were included in this prospective trial (NCT02792959) between 2014 and 2016. All underwent initial laparoscopic staging, four cycles of carboplatine-paclitaxel-based chemotherapy and interval debulking surgery. PET/CT and DW-MRI were performed at baseline (C0), after one cycle (C1) and before surgery (C4). Two nuclear physicians and two radiologists assessed five anatomic sites for the presence of ≥ 1 lesion. Target lesions in each site were defined and their apparent diffusion coefficient (ADC), maximal standardized uptake value (SUV-max), SUV-mean, SUL-peak, metabolic tumor volume (MTV) and total lesion glycolysis (TLG) were monitored (i.e., 10 patients × 5 sites × 3 time-points). Their relative early and late changes were calculated. Intra/inter-observer reproducibilities of qualitative and quantitative analysis were estimated with Kappa and intra-class correlation coefficients (ICCs).ResultsFor both modalities, inter- and intra-observer agreement percentages were excellent for initial staging but declined later for DW-MRI, leading to lower Kappa values for inter- and intra-observer variability (0.949 and 1 at C0, vs. 0.633 and 0.643 at C4, respectively) while Kappa values remained > 0.8 for PET/CT. Inter- and intra-observer ICCs were > 0.75 for SUV-max, SUL-peak, SUV-mean and their change regardless the time-point. ADC showed lower ICCs (range: 0.013–0.811). ANOVA found significant influences of the evaluation time, the measurement used (ADC, SUV-max, SUV-mean, SUV-max, SUL-peak, MTV or TLG) and their interaction on ICC values (P = 0.0023, P< 0.0001 and P =0.0028, respectively).ConclusionWhile both modalities demonstrated high reproducibility at baseline, only SUV-max, SUL-peak, SUV-mean and their changes maintained high reproducibility during chemotherapy.     

基于贵州省人群队列的代谢综合征发病风险和影响因素分析

目的 探讨代谢综合征（MS）的发病风险和影响因素，为预防MS提供科学依据。方法 采取多阶段整群抽样方法，于2010年建立贵州省人群队列，排除基线MS患者后，共有7 136人进入MS随访队列，收集队列人群基线社会人口学信息、生活行为方式和生理指标，并于2016—2020年进行随访，最终纳入4 754人进行分析。采用COX比例风险模型分析MS的发病风险及其影响因素的HR（95% CI），并计算影响因素的人群归因危险度（PAF%）。同时根据基线人群的MS组分得分建立亚队列，分析亚队列人群MS的影响因素。结果 队列人群累计随访33 424.18人年，中位随访6.57年，新发MS 963人，MS发病密度为28.81/1 000人年。COX回归分析结果显示:年龄45～59岁（HR = 1.53，95%CI:1.32～1.77）、年龄≥60岁（HR = 1.53，95%CI:1.27～1.86）、城市（HR = 1.71，95%CI:1.47～1.99）、吸烟（HR = 1.22，95%CI:1.01～1.48）、每日油摄入＞30 g（HR = 1.16，95%CI:1.01～1.34）、每日盐摄＞6 g（HR = 1.22，95%CI:1.05～1.42）、静态时间≥4 h/d（HR = 1.16，95%CI:1.02～1.32）、超重（HR = 1.66，95%CI:1.44～1.92）、肥胖（HR = 2.27，95%CI:1.71～3.02）、静息心率70～80次/min（HR = 1.32，95%CI:1.11～1.58）和 ＞80次/min（HR = 1.28，95%CI:1.07～1.54)是MS的危险因素，其PAF%分别为17.47%、11.32%、19.52%、5.89%、11.33%、13.66%、7.01%、12.91%、5.30%、17.68%、13.92%，文化程度升高（HR = 0.75，95%CI:0.68～0.83）和饮茶行为（HR = 0.82，95%CI:0.71～0.95）是MS的保护因素，其PAF%分别为16.21%和6.97%。亚队列研究结果与总体结果相似。结论 不健康的生活方式和超重、肥胖、静息心率升高是MS的影响因素，应将中老年人和城市居民作为预防MS的重点人群，采取相应措施控制烟草消费、油盐摄入，维持正常体重和适当心率，提高人群知识水平，保持饮茶行为，预防MS发生。     

Older women testing positive for HPV16/18 on cervical screening and risk of high-grade cervical abnormality

In Australia's HPV-based cervical screening program, we previously showed that risk of histological high-grade abnormality at 1 year post screening decreased with age in women with oncogenic HPV. In this study, we followed 878 HPV16/18 positive women aged 55 years and over for up to 3 years post screening test, to determine the proportion with histological high-grade abnormality (HGA, incorporating high-grade squamous intraepithelial abnormality (HSIL), adenocarcinoma in situ (AIS), squamous cell carcinoma (SCC) and adenocarcinoma) and to correlate risk of HGA with liquid-based cytology result and with prior screening history. HGA was detected in 7.8% at 1 year and 10.0% at 3 years, with no significant difference (P = .136), despite the number of women with follow-up information significantly increasing from 82.9% to 91.0% (P < .0001). The proportion of HPV16/18 positive women with HGA at 3 years was highest in those with an HSIL cytology result (79.0%) and lowest in those with negative cytology (6.2%). Women with an adequate screening history had fewer HGA than such women with inadequate prior screening (6.6% vs 16.0%, P = .001) or with a history of an abnormality (6.6% vs 14.4%, P = .001). HPV16/18 infection in women over 55 years may have a different natural history from that in younger women, in whom HGA are more common after HPV16/18 detection. In HPV-based cervical screening programs, management algorithms for screen-detected abnormalities based on risk stratification should include factors such as age, screening history and index cytology result, so that women receive appropriate investigation and follow-up.     

Dietary fat intake and metabolic syndrome in adults: A systematic review

Background and aimsThe metabolic syndrome (MetS) is a cluster of coexisting cardiovascular risk factors. The role of specific dietary fats was reemphasized by dietary recommendations. This systematic review aims to assess evidence for the effect of dietary fat intake on MetS occurrence and reversion in adults.Methods and ResultsThe MEDLINE database was used to search the existing literature. We included observational studies that analyzed dietary fat intake in adults with MetS and clinical trials that compared the effects of different dietary fat diets on MetS and/or its components. Thirty articles were selected (14 observational and 16 clinical trials), and we included information of dietary fat and fatty acids as well as MetS, body mass index, cholesterol, hypertension, and diabetes in adults. SFA intake was found to be positively associated with MetS components. Most of the observational reviewed studies found beneficial associations between MUFA and PUFA (including n-3 and n-6 subtypes) intake and MetS components. Clinical trials also supported the benefits of MUFA- or PUFA-enriched diets (including low-fat diets) in reducing MetS.ConclusionsThe effects of dietary SFAs on MetS will be influenced by other specific nutrients. Replacement of SFA by MUFA and PUFA has been associated with a decrease in MetS. Dietary recommendations should emphasize on different qualities of fat intake, not only to reduce total fat intake, to obtain health benefits in adults.     

PGT-A preimplantation genetic testing for aneuploidies and embryo selection in routine ART cycles: Time to step back?

Embryo aneuploidies may be responsible for implantation failures, miscarriages and affects IVF outcomes. A variety of technologies have been implemented to individuate euploid embryos in IVF treatments, which is named preimplantation genetic testing for aneuploidies (PGT-A). According to this strategy, a better embryo selection should increase IVF results. In reality, several issues remain unaddressed including the sampling strategy, involving the test outcomes, and the frequent occurrence of embryo mosaicism, affecting the criteria for selection of supposed viable embryos and possibly posing an ethical dilemma. Safety issues are in place, including perinatal and postnatal consequences of embryo sampling and the epigenetic weaknesses from a prolonged in vitro culture, necessary for trophectoderm biopsy. On the other side, chromosome number mistakes are progressively recognized as physiologic events in the early pre-implantation embryo with many corrective mechanisms in place and their destiny in the post-implantation development is unclear. Accordingly, the increasing precision of the diagnostic tools should be used to investigate the effect of such interventions within rigorous research programs in the sake of improved clinical outcomes. Meantime the diagnosis of embryo aneuploidies in IVF cycles should be considered as a research tool and systematic implementation in clinical practice may appear unjustified.