简介：AbstractTuberous sclerosis complex (TSC) is a rare disease that involves multiple organs, including the brain; approximately 80%-90% of TSC patients exhibit TSC-associated epilepsy. Independent temporal lobe epilepsy (TLE), TSC-unrelated epilepsy, is particularly rare in patients with TSC. Here, we describe three patients with TSC with independent TLEs that were confirmed by stereo-electroencephalography (EEG), postoperative pathological findings, and seizure outcome at follow-up. The patients were retrospectively enrolled at two centers; their ictal epileptiform discharge onsets were determined using electrode contacts in the hippocampus during stereo-EEG. The three patients underwent anterior temporal lobectomies and remained seizure-free at 1-5 years after surgery. Postoperative pathological examinations confirmed hippocampal sclerosis in all three patients. Furthermore, postoperative intelligence quotient improvement was evident in one patient, while the quality of life was improved in two patients at 12 months after surgery.

简介：AbstractTuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder characterized by the development of hamartomas in the brain, heart, skin, kidney, lung, retina, and so on. One fetus from family 1 had a cardiac rhabdomyoma from 21 weeks and 6 days of gestational age, and developed multiple rhabdomyomas and tubers in the brain at 23 weeks and 5 days. The counter monozygotic twin fetus remained negative throughout the pregnancy according to imaging examination. A nonsense mutation in TSC2 (c.4762C>T, p.Gln1588*) was identified in both twins, but not in the mother. Family 2 was one pair of twin fetuses caused by a microdeletion of exon 30 within TSC2 inherited from their apparently asymptomatic mother with mosaic status. The larger fetus was identified as having the first cardiac rhabdomyoma from 17 weeks and 4 days of gestational age. The smaller fetus developed multiple rhabdomyomas until 25 weeks and 6 days of gestational age. Both families terminated the pregnancy. Here, we provide intrauterine examples of clinical variability among monozygotic twins suffering from TSC.

简介：AbstractTuberous sclerosis complex (TSC) is a rare multisystem, autosomal dominant neurocutaneous syndrome in which epilepsy is the most common of several neurological and psychiatric manifestations. Around two thirds of patients develop drug-resistant epilepsy for whom surgical resection of epileptogenic foci is indicated when seizures remain inadequately controlled following trial of two antiseizure medications. The challenge with presurgical and surgical approaches with patients with TSC is overcoming the complexity from the number of tubers and the multiplex epileptogenic network forming the epileptogenic zone. Data suggest that seizure freedom is achieved by 55%-60% of patients, but predictive factors for success have remained elusive, which makes for unconfident selection of surgical candidates. This article presents three different cases as illustrations of the potential challenges faced when assessing the suitability of TSC patients for epilepsy surgery.

简介：AbstractFetal cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) which is an autosomal dominant hereditary neurocutaneous disease with an incidence of approximately 1 in 5 000 to 10 000 live birth. It is caused by mutations in the TSC1 or TSC2 gene, de novo mutations accounting for approximately 80% of TSC cases, which can involve multiple organs and systems such as the heart, brain, kidney, lung, skin, and so on. Cardiac rhabdomyoma is the most common fetal heart tumor, accounting for about 60% of cases. It is closely related to TSC and may be the only manifestation of TSC which occurs during pregnancy. This study retrospectively analyzed the clinical data of a neonate with TSC diagnosed with fetal cardiac rhabdomyomas and confirmed by amniocentesis prenatal diagnosis as gene testing TSC1 gene positively. The parents had no such mutation. However, due to the influence of the sudden coronavirus disease 2019 (COVID-19) epidemic, the TSC genetic test report was not obtained until 38 weeks of pregnancy. Multiple hypo-pigmented spots (diameter >5 mm) were found immediately after birth. The characteristic cardiac feature of TSC is a rhabdomyoma and the diagnosis of TSC is based upon genetic testing and multiple ultrasound examinations or magnetic resonance imaging. Most patients with TSC have epilepsy, and one-half or more have cognitive deficits and learning disabilities. So rigorous follow-up will continue for the case we reported.

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简介：AbstractSystemic sclerosis (SSc) is characterized by immune dysfunction, vasculopathy, chronic fibrosis of skin and internal organs with complex etiology. With the rapid development and the application in biomedicine of epigenetics, accumulating evidence has shown that epigenetics plays an important role in the pathogenesis of SSc. Environmental factors via epigenetics are needed to trigger and maintain for the disease in the subjects with genetic predisposition to SSc. The role of epigenetics in the pathogenesis of SSc includes hypermethylation of the promoter region of nitric oxide synthase and bone morphogenetic protein receptors II, up-regulation of histone deacetylases 4 and 5 expression, and down-regulation of miR-193b and miR-152 in endothelial cells inducing vascular dysfunction; DNA hypermethylation and hypoacetylation of histone H3 and H4 in Friend leukemia virus integration 1 and Kruppel-like factor 5 genes, and the abnormal expression of miR-29, miR-129-5p and miR-135b in fibroblasts causing excessive fibrosis; DNA hypomethylation in the promoter regions of CD11a and CD70 genes in CD4+T cells resulting in immune dysfunction. Studies on the role of epigenetics in SSc are of great significance for better understanding the pathogenic machanism of SSc, which is helpful to find new molecular targets for treating SSc, and consequently, improve the prognosis of SSc.

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简介：分析了晶闸管投切开关、触发时刻、电容的编码方式和谐波放大等对系统的影响，针对高压无功补偿装置保护复杂、故障率高、响应速度慢等问题，设计了一种电容的投切方法。最后基于Simulink／MATLAB对10kV高压无功补偿系统进行了仿真研究，给出了仿真结果。

简介：摘要目的对29个结节性硬化症(tuberous sclerosis complex，TSC)家系进行TSC1、TSC2基因的变异筛查，并对其中14个家系的高危胎儿进行产前诊断，探讨二代测序(next generation sequencing，NGS)联合多重连接探针扩增(multiple ligation-dependent probe amplification，MLPA)对TSC相关变异的筛查效果。方法采用NGS-Sanger测序和MLPA技术对29个家系的先证者进行TSC1/TSC2基因的变异检测；抽取胎儿羊水或绒毛样本，通过亲子鉴定试验排除母体污染；针对先证者携带的致病变异对胎儿进行基因诊断。结果在29个TSC家系中共检出27种疑似致病变异，其中TSC1变异5种(18.5%)，TSC2变异22种(81.5%)，12种未见文献报道。14个接受产前诊断的家系中，5个家系的胎儿为患者，其中2例胎儿携带TSC2基因新发变异，超声提示心脏多发横纹肌瘤，其余9个家系的胎儿判断为正常。结论本研究拓展了TSC1、TSC2基因的变异谱。高通量测序结合MLPA可以高效、准确地为TSC患者提供基因诊断。

简介：InordertosolvethelinearalgebraicsystemAX=bincomplexdomain,whereAisaweaklycyclicofindexp=3matrix(p-cyclicmatrix),theconvergencepropertiesofSORarestudiedinthepaper.Insection1,wegivesomedefinitions.Insection2,thenecessaryconditionsforconvergentcomplexSORaregivenmoreoverthenecessaryandsufficientconditionsinsomespecialsituationsarealsopresented.Insection3,weexpandthetechniquesappliedbyR.S.Vargaetal.,anditisestablishedthattheresultsofR.S.Vargaet.al.arespecialcasesofourwork.

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简介：Multiplesclerosis(MS)isachronicimmune-mediatedinnammatory-demyelinatingdisorderofthecentralnervoussystem,withastrongneurodegenerativecomponent.ThequestionwhetherneurodegenerationinMSisindependentorrelatedtoneuroinflammationhasbeenlongdebated,butnotyetfullyclarified.Furthermore,littleisstillknownonhowneuroinflammationandneurodegenerationinMSarerelatedtopotentialregenerativeprocesses.Inthisperspective,webrieflydiscussmainclinical,pathologicalandexperimentalevidenceontherelationshipbetweenneuroinflammationandneurodegenerationinMS,andontheirconnectionwithregeneration.WediscussthattheseprocessesinMSmightrepresentintercorrelatedmanifestationsoftheimmuneresponse,especiallyoftheinnateimmunity.

简介：摘要TSC22D1是TSC-22/Dip/Bun家族中的一员，在大鼠、小鼠和人类等不同种属之间具有高度同源性，是一个高度保守的基因；其两个转录本TSC22D1.1和TSC22D1.2在参与细胞生长、分化和凋亡的调控中功能相反，与肿瘤增殖、凋亡等密切相关；不仅仅局限于参与肿瘤进程，且具有协调脂质代谢、诱导细胞衰老、参与细胞外基质重构等生物学功能。本文综述了TSC22D1的相关研究，使其成为一种新的生物学标志物对指导临床诊断、治疗和机制探索具有重要意义。

简介：复杂适应系统(cas)-包含当他们交往，适应或学习的许多部件的系统-在重要当代的问题的心。学习ofcas提出唯一的挑战：一些我们的很强大的数学工具，特别地，包含的方法修理了点，引起注意的人，等等，具有在理解cas的发展的有限帮助。这篇论文建议方法修改研究方法和工具，与基于计算机的模型的角色上的一个重音，到增加我们cas的理解。

简介：Healthcareisindeedacomplexservicesystem,onerequiringthetechnobiologyapproachofsystemsengineeringtounderpinitsdevelopmentasanintegratedandadaptivesystem.Ingeneral,healthcareservicesarecarriedoutwithknowledge-intensiveagentsorcomponentswhichworktogetherasprovidersandconsumerstocreateorco-producevalue.Indeed,theengineeringdesignofahealthcaresystemmustrecognizethefactthatitisactuallyacomplexintegrationofhuman-centeredactivitiesthatisincreasinglydependentoninformationtechnologyandknowledge.Likeanyservicesystem,healthcarecanbeconsideredtobeacombinationorrecombinationofthreeessentialcomponents–people(characterizedbybehaviors,values,knowledge,etc.),processes(characterizedbycollaboration,customization,etc.)andproducts(characterizedbysoftware,hardware,infrastructures,etc.).Thus,ahealthcaresystemisanintegratedandadaptivesetofpeople,processesandproducts.Itis,inessence,asystemofsystemswhichobjectivesaretoenhanceitsefficiency(leadingtogreaterinterdependency)andeffectiveness(leadingtoimprovedhealth).Integrationoccursoverthephysical,temporal,organizationalandfunctionaldimensions,whileadaptationoccursoverthemonitoring,feedback,cyberneticandlearningdimensions.Insum,suchservicesystemsashealthcareareindeedcomplex,especiallyduetotheuncertaintiesassociatedwiththehuman-centeredaspectsofthesesystems.Moreover,thesystemcomplexitiescanonlybedealtwithmethodsthatenhancesystemintegrationandadaptation.

简介：用没有改变度分发的一个悦耳的聚类系数模型，我们调查与未加权、加权的政变石楠在网络的同步上聚类系数的效果。为复杂网络的几个典型范畴，更多的三角形在网络，更坏网络的synchronizability。

简介：LetS∞denotetheunitsphereinsomeinfinitedimensionalcomplexHilbertspace(H,<·,·>)Letz1,z2,…,z1bedistinctpointsonS∞Thispaperdealswithinterpolationofarbitrarydataonthezjbyafunctioninthelinearspanofthelfunctionswhenisasuitablefunctionthatoperatesonnonnegativedefinitematrices.Conditionsforthestrictpositivedefinitenessofthekernelareobtained.

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