慢阻肺急性加重期患者延迟就医与家庭动力学的相关性研究

目的研究慢阻肺急性加重期患者延迟就医与家庭动力学的相关性,希望能够为慢阻肺急性加重期患者拟定护理措施提供科学依据。方法选取2017年1月-2019年12月我院240例诊断为慢阻肺急性加重期的患者为研究对象。根据患者入院就医的时间进行分组,时间≥24h的延迟就医的患者为观察组,时间<24h的及时就医患者为对照组。结果两组患者在文化水平、家庭年收入、在职状态、医疗保险和婚姻状况和APACHEⅡ评分比较(P<0.05)。观察组患者疾病观念、个性化、系统逻辑和家庭氛围得分比对照组高(P<0.05)。Pearman的相关性分析结果显示:慢阻肺急性加重期患者延迟就医时间与各个层面分数以及家庭动力总分呈现负相关性(P<0.05)。应变量为延迟就医为应变量,患者的一般资料为自变量,经Logistic回归分析结果表明:延迟就医的影响因素为文化水平、家庭动力评分、职业状态、家庭收入、婚姻状况和APACHEⅡ评分。结论慢阻肺急性加重期患者家庭动力总分与疾病观念、个性化、系统逻辑和家庭氛围得分与延迟就医时间呈现负相关性,患者延迟就医的影响因素是家庭动力学评分。     

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.     

COX20基因变异线粒体复合物Ⅳ缺乏症相关的遗传性周围神经病4例病例系列报告及文献复习

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。     

BMP/TGF-β signaling as a modulator of neurodegeneration in ALS

This commentary focuses on the emerging intersection between BMP/TGF-β signaling roles in nervous system function and the amyotrophic lateral sclerosis (ALS) disease state. Future research is critical to elucidate the molecular underpinnings of this intersection of the cellular processes disrupted in ALS and those influenced by BMP/TGF-β signaling, including synapse structure, neurotransmission, plasticity, and neuroinflammation. Such knowledge promises to inform us of ideal entry points for the targeted modulation of dysfunctional cellular processes in an effort to abrogate ALS pathologies. It is likely that different interventions are required, either at discrete points in disease progression, or across multiple dysfunctional processes which together lead to motor neuron degeneration and death. We discuss the challenging, but intriguing idea that modulation of the pleiotropic nature of BMP/TGF-β signaling could be advantageous, as a way to simultaneously treat defects in more than one cell process across different forms of ALS.     

Identifying developmental disability in national surveys: Addressing the knowledge gap with special education histories

BackgroundIn the United States nearly 20% of children ages 12–17 have developmental disorders. Some attain population-based developmental milestones after a delay, or increase functioning through special education, medication, technology, or therapy. Others have severe lasting impairments. An indicator identifying those groups in surveys of adults could help shape policies to improve lives.HypothesesWe hypothesized that survey histories of special education could indicate functional status levels.MethodsData were from the nationally representative Panel Study of Income Dynamics (1997–2017, n = 2745). With measures of diagnoses, behaviors, functional status, service use, and adult outcomes, we tested three special education groups as indicators of: (1) no impairment (no special education), (2) disorders, developmental diagnoses that adversely affect educational performance, but with development after a period of delay or only moderate disability, indicated by transfer from special education; and (3) severe lasting disability, the diagnoses combined with life-long needs for supports or services, with limitations in areas including self-care, mobility, and capacity for independent living, indicated by special education in the individual's final year of school.ResultsAcross the special education groups, from no impairment to severe lasting disability, there were trends of: increasing severe and lasting disability (respectively 4.8%, 35.6%, 76.4%); increasing special services use (13.5%, 43.1%, 83.7%); increasing severe emotional disorders (2.3%, 11.3%, 17.9%); lower percentages attaining at least an associate's degree by age 25 (42.1%, 20.7%, and 8.9%); and more chronic diseases.ConclusionsSpecial education histories provide a useful indicator of developmental disability impairment levels in adults.     

近端胃切除人工三角瓣成形抗反流术的力学机理仿真分析

目的:对食管胃结合部腺癌近端胃切除术（PG）人工三角瓣成形后残胃食糜进行流体动力学数值模拟，并计算不同性质胃内食糜的流动特征。方法:构建常规PG和人工三角瓣成形术术后胃仿真模型，运用Fluent软件对不同粘度胃内食糜反流问题进行数值模拟。结果:站立位姿态时，相对常规PG方案，人工三角瓣成形手术方案表现出较好的抗反流作用；卧位姿态时，当胃内食糜粘度大于0.145 2 Pa[?s，且胃内食糜不超过人工三角瓣情况下，人工三角瓣成形抗反流手术表现出较好的抗反流效果；人工三角瓣抗反流成形手术方案数值模拟结果与临床上患者表现一致。结论:本研究仿真分析为人工三角瓣成形抗反流手术方案的有效性机理分析、临床患者术后饮食及手术方案的进一步改进提供理论及数值依据。 【关键词】食管胃结合部腺癌；抗反流；人工三角瓣；计算流体力学     

补中益气汤对于肝再生线粒体能量代谢的研究概况＊

肝再生的机制非常复杂，线粒体功能障碍所引起的能量供给不足是影响因素之一，但其机理亟待研究。严重肝损害时肝细胞ATP供应减少、线粒体能量代谢异常，导致肝再生受到抑制。补中益气汤为李东垣所创，其具补中益气、升阳举陷之功，有实验证实补中益气汤具有保护线粒体功能、增加线粒体能量代谢的作用，从而促进肝再生。本文综述补中益气汤总方与其中各类中药对线粒体能量代谢的保护作用，从而为促进肝再生提供新的治疗手段并对改善病人预后有重要意义。     

Resolving a 150-year-old paternity case in Mormon history using DTC autosomal DNA testing of distant relatives

Although autosomal DNA testing has been available for a number of years, its use to reconstruct genetic profiles of people that lived centuries in the past is relatively recent and there are no published cases where it was employed to verify a kinship relation, likely to be an alleged paternity, that occurred one and a half century ago.DNA testing has already been employed to study the ancestry and posterity of Joseph Smith Jr., founder of the Latter-day Saint (Mormon) movement. Thanks to information found on the paternally inherited Y chromosome, a number of alleged paternities have been disproved, but obviously this analysis is not effective for alleged daughters. Likewise, his reconstructed mitogenome sequence, reported here for the first time, provides information about his maternal ancestry, but is useless in any paternity questions due to the strict maternal inheritance. Among all the children attributed to Joseph Smith Jr., Josephine Lyon, born in 1844, is perhaps the most frequently mentioned.In the current study, 56 individuals, mostly direct descendants of Joseph Smith Jr. and Josephine Lyon, had their autosomal DNA tested to verify Josephine’s biological paternity. Nearly 600,000 autosomal SNPs from each subject were typed and detailed genealogical data were compiled. The absence of shared DNA between Josephine’s grandson and Joseph Smith Jr.’s five great-grandchildren together with various amounts of autosomal DNA shared by the same individual with four other relatives of Windsor Lyon is a clear indication that Josephine was not related to the Smith, but to the Lyon’s family. These inferences were also verified using kinship analyses and likelihood ratio calculations.     

The relationship between supination resistance and the kinetics and kinematics of the foot and ankle during gait

BackgroundClinical tests of foot posture and mobility are not strongly related to the dynamic kinematics of the foot during gait. These measures may be more directly related to foot and ankle kinetics. The supination resistance test (SRT) is a clinical test that may more directly measure forces acting on the weightbearing foot to provide clinicians with insight about the loading of foot structures.Research QuestionWhat is the relationship between the SRT in relaxed calcaneal stance and in single-leg-stance and the kinetics and kinematics of the foot and ankle during gait?Methods10 healthy adults between the ages of 18 and 65 were recruited to participate in this study. Three-dimensional motion analysis was performed using the Oxford Foot Model during gait. The results of the SRT were compared with peak midfoot and ankle joint moments, power generation and absorption, joint angles, and peak angular velocities and accelerations. Correlation coefficients were calculated to assess the strength of relationships between these variables and the SRT.ResultsThe SRT demonstrated significant relationships with several variables. In relaxed calcaneal stance, the SRT was inversely related to maximum midfoot pronation moments (r = −0.51), maximum midfoot plantarflexion moments (rho = −0.71), and peak midfoot power generation (r = −0.61). In single-leg-stance, the SRT was significantly related to maximum midfoot plantarflexion moments (rho = −0.55) and peak midfoot power generation (r = −0.47).SignificanceThe SRT is significantly associated to several kinetic variables that quantify midfoot loading during gait. Interventions that decrease supination resistance may have the potential to increase midfoot power generation.     

Methodological considerations for near-infrared spectroscopy to assess mitochondrial capacity after spinal cord injury

Background: Skeletal muscle mitochondrial activity is reduced by?～?50–60% after SCI, resulting in impaired energy expenditure, glucose utilization and insulin sensitivity. Near infra-red spectroscopy (NIRS) is a non-invasive tool that can be used to assess mitochondrial capacity.

Objectives: (1) Highlight methodological limitations impacting data acquisition and analysis such as subcutaneous adipose tissue (SAT) thickness, movement artifacts, inadequate muscle stimulation, light interference, and ischemic discomfort. (2) Provide technical considerations to improve data acquisition and analysis. This may serve as guidance to other researchers and clinicians using NIRS.

Study Design: cross-sectional observational design.

Settings: Clinical research medical center.

Participants: Sixteen men with 1?>?year post motor complete SCI.

Methods: NIRS signals were obtained from right vastus lateralis muscle utilizing a portable system. Signals were fit to a mono-exponential curve.

Outcome Measures: Rate constant and r ² values for the fit curve, indirectly measures mitochondrial capacity.

Results: Only four participants produced data with accepted rate constants of 0.002–0.013?s^?1 and r ² of 0.71–0.87. Applications of studentized residuals ≥2.5 resulted in sparing data from another four participants with rate constants of 0.010–0.018?s^?1and r ² values ranging from 0.86–0.99.

Conclusions: Several limitations may challenge the use of NIRS to assess mitochondrial capacity after SCI. Acknowledging these limitations and applying additional data processing techniques may overcome the discussed limitations and facilitate data sparing.