Understanding Behavioral Manifestations of Obsessive-Compulsive Disorder in People with Intellectual Disabilities—A Qualitative Study

Background: There is limited knowledge about obsessive-compulsive disorder (OCD) in people with intellectual disabilities (IDs). This paper describes the manifestation of compulsive behaviors associated with OCD at the behavioral level in people with ID in institutionalized settings. The aim was to gain nuanced insight into appropriate understanding and classification in this specific context, and derive implications for research and practice. Methods: Individual cases of people with ID (n = 7) were studied to assess compulsive symptoms through two days of on-site observation of the person with ID within the institution, guided group discussions (n = 28), and semi-structured interviews with key informants and caregivers of the person with ID (n = 20). Caregiver ratings of the compulsive behavior checklist were compiled. Data were analyzed using qualitative content analysis. Results: All forms of OCD were present. Characteristics of compulsive behaviors in people with ID at the behavioral level included less complex and more obvious compulsive acts, immediate responses, signs of tension, motor restlessness, facial expression changes, repetition, need for predictability, time-consuming behaviors, and aggressive reactions when these acts were interrupted. Some of the compulsive behaviors corresponded to the ICD-11 OCD code 6B20, and others to compulsions as a psychological symptom (MB23.4). Conclusions: OCD may manifest atypically at the behavioral level in people with ID, posing significant challenges for accurate classification due to symptom ambiguity. Follow-up differential diagnostic studies are needed to more accurately identify and differentiate OCD symptoms in people with ID. Further, disorder-specific guidelines for recognizing OCD in people with ID are needed for institutionalized settings without psychiatric-psychotherapeutic expertise.

Progress of TCM Syndrome Differentiation and Treatment of Hypertension with Sleep Disorders

It has been discovered that the number of hypertensive patients with various types of sleep disorders is on the rise,which significantly increases the morbidity and mortality of cardiovascular diseases.Modern medicine has not reached a consensus on the mechanism and treatment of these diseases but relies on drugs to improve sleep disorders and blood pressure.We regard TCM syndrome differentiation as the breakthrough point,along with comprehensive modern and traditional medical methods based on dialectical thinking as means of holistic and symptomatic treatment of Western medicine integrated with the eight principles of TCM diagnosis,Zang-Fu organs,six meridians,Qi,blood and fluid,as well as other dialectical methods,in order to provide a broader idea for TCM treatment and lay a foundation for further and better development of integrated TCM and Western medicine treatment.

Role of brahma-related gene 1/brahma-associated factor subunits in neural stem/progenitor cells and related neural developmental disorders

Different fates of neural stem/progenitor cells(NSPCs)and their progeny are determined by the gene regulatory network,where a chromatin-remodeling complex affects synergy with other regulators.Here,we review recent research progress indicating that the BRG1/BRM-associated factor(BAF)complex plays an important role in NSPCs during neural development and neural developmental disorders.Several studies based on animal models have shown that mutations in the BAF complex may cause abnormal neural differentiation,which can also lead to various diseases in humans.We discussed BAF complex subunits and their main characteristics in NSPCs.With advances in studies of human pluripotent stem cells and the feasibility of driving their differentiation into NSPCs,we can now investigate the role of the BAF complex in regulating the balance between self-renewal and differentiation of NSPCs.Considering recent progress in these research areas,we suggest that three approaches should be used in investigations in the near future.Sequencing of whole human exome and genome-wide association studies suggest that mutations in the subunits of the BAF complex are related to neurodevelopmental disorders.More insight into the mechanism of BAF complex regulation in NSPCs during neural cell fate decisions and neurodevelopment may help in exploiting new methods for clinical applications.

Autism spectrum disorder and personality disorders: Comorbidity and differential diagnosis

BACKGROUND Differential diagnosis,comorbidities and overlaps with other psychiatric disorders are common among adults with autism spectrum disorder(ASD),but clinical assessments often omit screening for personality disorders(PD),which are especially common in individuals with high-functioning ASD where there is less need for support.AIM To summarize the research findings on PD in adults with ASD and without intellectual disability,focusing on comorbidity and differential diagnosis.METHODS PubMed searches were performed using the key words“Asperger’s Syndrome”,“Autism”,“Personality”,“Personality disorder”and“comorbidity”in order to identify relevant articles published in English.Grey literature was identified through searching Google Scholar.The literature reviews and reference sections of selected papers were also examined for additional potential studies.The search was restricted to studies published up to April 2020.This review is based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses method.RESULTS The search found 22 studies carried out on ASD adults without intellectual disability that met the inclusion criteria:16 evaluated personality profiles or PD in ASD(comorbidity),five compared ASD and PD(differential diagnosis)and one performed both tasks.There were significant differences in the methodological Cluster A and cluster C PD are the most frequent co-occurring PD,but overlapping features should be considered.Data on differential diagnosis were only found with cluster A and cluster B PD.CONCLUSION ASD in high-functioning adults is associated with a distinct personality profile even if variability exists.Further studies are needed to explore the complex relationship between ASD and PD.

Wnt signaling:Essential roles in osteoblast differentiation,bone metabolism and therapeutic implications for bone and skeletal disorders

Wnt signaling executes an indispensable performance in osteoblast differentiation,bone development,homeostasis,and remodeling.Wnt signals trigger the intracellular Wnt signaling cascade to initiate regulating the implication of b-catenin in the bone environment.Going through the novel discoveries done via high-throughput sequencing technologies on ge-netic mouse models,we highlighted the significant contribution of Wnt ligands,co-receptors,inhibitors,their related skeletal phenotypes in mouse models and the similar bone disorders clinically observed in human beings.Moreover,the crosstalk between Wnt signaling pathway and BMP,TGF-b,FGF,Hippo,Hedgehog,Notch and PDGF signaling pathways is thoroughly demonstrated to be the underlying gene regulatory network that orchestrates osteoblast dif-ferentiation and bone development.We also introspected the significance of Wnt signaling transduction in the reorganization of cellular metabolism by stimulating glycolysis,glutamine catabolism,and fatty acid oxidation in osteoblast-lineage cells that display an important reg-ulatory arbor in the cellular bioenergetics of the bone.Throughout this evaluation,most to date therapeutical approaches towards osteoporosis and other bone maladies found in human beings,are formulated with an aspiration to holistically revamp the present clinical applica-tions involving various monoclonal antibodies therapies that lack specificity,efficacy,and safety into more requisite advanced therapeutics that satisfy these three requirements for further clinical considerations.Conclusively,our review provides comprehensive scientific findings related to the fundamental significance of Wnt signaling cascades in skeletal system and the underlying gene regulatory network with other signaling pathways enlightening re-searchers with the possibility to further integrate the identified target molecules into thera-peutic strategies for skeletal disorders treatment in the clinic.

The importance of fasciculation and elongation protein zeta-1 in neural circuit establishment and neurological disorders

The human brain contains an estimated 100 billion neurons that must be systematically organized into functional neural circuits for it to function properly.These circuits range from short-range local signaling networks between neighboring neurons to long-range networks formed between various brain regions.Compelling converging evidence indicates that alterations in neural circuits arising from abnormalities during early neuronal development or neurodegeneration contribute significantly to the etiology of neurological disorders.Supporting this notion,efforts to identify genetic causes of these disorders have uncovered an over-representation of genes encoding proteins involved in the processes of neuronal differentiation,maturation,synaptogenesis and synaptic function.Fasciculation and elongation protein zeta-1,a Kinesin-1 adapter,has emerged as a key central player involved in many of these processes.Fasciculation and elongation protein zeta-1-dependent transport of synaptic cargoes and mitochondria is essential for neuronal development and synapse establishment.Furthermore,it acts downstream of guidance cue pathways to regulate axo-dendritic development.Significantly,perturbing its function causes abnormalities in neuronal development and synapse formation both in the brain as well as the peripheral nervous system.Mutations and deletions of the fasciculation and elongation protein zeta-1 gene are linked to neurodevelopmental disorders.Moreover,altered phosphorylation of the protein contributes to neurodegenerative disorders.Together,these findings strongly implicate the importance of fasciculation and elongation protein zeta-1 in the establishment of neuronal circuits and its maintenance.

Identification of key genes involved in post-traumatic stress disorder:Evidence from bioinformatics analysis

BACKGROUND Post-traumatic stress disorder(PTSD)is a serious stress-related disorder.AIM To identify the key genes and pathways to uncover the potential mechanisms of PTSD using bioinformatics methods.METHODS Gene expression profiles were obtained from the Gene Expression Omnibus database.The differentially expressed genes(DEGs)were identified by using GEO2R.Gene functional annotation and pathway enrichment were then conducted.The gene-pathway network was constructed with Cytoscape software.Quantitative real-time polymerase chain reaction(qRT-PCR)analysis was applied for validation,and text mining by Coremine Medical was used to confirm the connections among genes and pathways.RESULTS We identified 973 DEGs including 358 upregulated genes and 615 downregulated genes in PTSD.A group of centrality hub genes and significantly enriched pathways(MAPK,Ras,and ErbB signaling pathways)were identified by using gene functional assignment and enrichment analyses.Six genes(KRAS,EGFR,NFKB1,FGF12,PRKCA,and RAF1)were selected to validate using qRT-PCR.The results of text mining further confirmed the correlation among hub genes and the enriched pathways.It indicated that these altered genes displayed functional roles in PTSD via these pathways,which might serve as key signatures in the pathogenesis of PTSD.CONCLUSION The current study identified a panel of candidate genes and important pathways,which might help us deepen our understanding of the underlying mechanism of PTSD at the molecular level.However,further studies are warranted to discover the critical regulatory mechanism of these genes via relevant pathways in PTSD.

Gene×environment interaction in major depressive disorder

Major depressive disorder(MDD)is a multifactorial disorder,where multiple susceptibility genes interact with environmental factors,predisposing individuals to the development of the illness.In this article,we reviewed different gene×environment interaction(G×E)studies shifting from a candidate gene to a genome-wide approach.Among environmental factors,childhood adversities and stressful life events have been suggested to exert crucial impacts on MDD.Importantly,the diathesis-stress conceptualization of G×E has been challenged by the differential susceptibility theory.Finally,we summarized several limitations of G×E studies and suggested how future G×E studies might reveal complex interactions between genes and environments in MDD.

Experience in Differentiation and Treatment of Stubborn Insomnia

Stubborn insomnia is characterized by: a) a long course of illness, lasting over 3 months; b) ineffectiveness of the routine treatment; c) the patient can sleep no more than 2 hours at night; d) the patient has a low spirit, palpitation, poor memory, viscera function disorder, all seriously affecting the patient's life and work. The following is an account of the author's clinical experience in treating stubborn insomnia.

Application of Bu Zhong Yi Qi Tang According to TCM Differentiation of Syndromes

Bu Zhong Yi Qi Tang (补中益气汤Decoction for Reinforcing the Middle-jiao and Replenishing Qi) is an effective formulated recipe commonly used for treating a variety of diseases with the manifestations of kidney-qi deficiency. In my opinion, however, it is also very effective for the conditions of which the symptoms of kidney-qi deficiency is not noticeable, but its mechanism lies in dysfunction of the spleen. The following are some examples.……

辨体辨病辨证模式指导下针刺与普通针刺联合文拉法辛治疗首发广泛性焦虑障碍的效果研究

目的探讨辨体辨病辨证模式指导下针刺与普通针刺联合文拉法辛治疗首发广泛性焦虑障碍(GAD)的效果。方法纳入2021年1月至2024年1月收治150例GAD,采用随机数字表法分为观察组75例和对照组75例,观察组给予辨体辨病辨证模式指导下针刺联合文拉法辛治疗,对照组给予普通针刺联合文拉法辛治疗,治疗时间均为8周。治疗结束后进行疗效评价,比较2组治疗前、治疗4周后和治疗8周后汉密尔顿焦虑量表(HAMA)与焦虑自评量表(SAS)评分,比较2组治疗前、治疗8周后血清5-羟色胺、去甲肾上腺素(NE)和多巴胺水平,并记录文拉法辛治疗期间2组不良反应情况。结果治疗后,观察组总有效率为93.33%高于对照组的80.00%(P<0.05)。治疗4、8周后2组HAMA评分、SAS评分均较治疗前降低,且治疗8周后比治疗4周后低(P<0.05);观察组治疗4周后、治疗8周后HAMA评分、SAS评分均低于对照组(P<0.01)。治疗8周后2组5-羟色胺、NE和多巴胺水平均较治疗前降低,且观察组低于对照组(P<0.05,P<0.01)。2组文拉法辛治疗期间不良反应比较差异无统计学意义(P>0.05)。结论辨体辨病辨证模式指导下针刺联合文拉法辛治疗首发GAD效果确切,可以改善患者焦虑症状及中枢神经递质水平。

从梦与情志的关联探讨张永华情志辨证理论指导下多梦症的治疗经验

[目的]总结张永华教授运用情志辨证理论治疗多梦症的临证经验。[方法]通过整理、回顾、分析张教授治疗多梦症的医案,以梦与情志的关联为基础,从中医病理机制和治则治法等方面,总结归纳张教授应用情志辨证理论治疗多梦症的学术经验,并列举医案一则予以佐证。[结果]张教授治疗多梦症,强调梦境的情志体验重于梦境的内容本身,适宜用情志辨证方法进行辨证治疗,根据梦境的情志体验将多梦症分为思虑型、惊恐型、烦怒型、悲忧型、喜乐型五个基本证型,治疗时谨守“气、痰、火”三大核心病机,施以理气、化痰、清火等治法。所举验案为惊恐型多梦症,主要病机为“痰、火”,治以清火化痰、宁心安神,方选芩连温胆汤为底,随证加减,疗效显著。[结论]张永华教授辨治多梦症基于情志辨证理论,注重梦境中的情志体验,经验独到,临床疗效显著,值得推广应用。

多系统萎缩中医认识及中医药治疗现状

多系统萎缩(MSA)是一种中枢神经退行性疾病,起病具有隐匿性、散发性、进行性加重的特点。现代医学对其病因及发病机制认识尚不清晰,且治疗方法较为匮乏,中医学对MSA治疗却具有显著优势。现梳理近五年中医药治疗MSA相关文献,从病因病机和辨证论治方面总结其中医药治疗现状,认为MSA多由情志内伤和正虚体弱所致,病机总属肝肾脾亏虚,气、血、水湿运化功能失调。中医药临床多从肝肾亏虚证、脾肾亏虚证和痰瘀互阻证论治,可有效改善自主神经功能障碍、认知功能障碍和躯体运动障碍,并能够延缓MSA中枢神经老化和调节脑内微环境异常,以期为今后中医药治疗MSA提供临床依据和参考。

Transcriptional regulation in the development and dysfunction of neocortical projection neurons

Glutamatergic projection neurons generate sophisticated excitatory circuits to integrate and transmit information among different cortical areas,and between the neocortex and other regions of the brain and spinal cord.Appropriate development of cortical projection neurons is regulated by certain essential events such as neural fate determination,proliferation,specification,differentiation,migration,survival,axonogenesis,and synaptogenesis.These processes are precisely regulated in a tempo-spatial manner by intrinsic factors,extrinsic signals,and neural activities.The generation of correct subtypes and precise connections of projection neurons is imperative not only to support the basic cortical functions(such as sensory information integration,motor coordination,and cognition)but also to prevent the onset and progression of neurodevelopmental disorders(such as intellectual disability,autism spectrum disorders,anxiety,and depression).This review mainly focuses on the recent progress of transcriptional regulations on the development and diversity of neocortical projection neurons and the clinical relevance of the failure of transcriptional modulations.

论特应性皮炎核心病机与辨治思路

特应性皮炎(AD)是皮肤科常见的慢性复发性、瘙痒性、炎症性皮肤病。笔者认为,AD的核心病机在于先天禀赋不足,后天脏腑失调,其中尤以脾胃失调为本。而根据本病发病的不同年龄段和不同疾病阶段,其核心病机又具有动态可变性。婴儿期及儿童期AD病位在心,与脾、肾相关,急性期以心火亢盛为主;亚急性期以心火脾虚交织互见为主;慢性期及稳定期多表现为热盛伤阴导致的阴虚血燥、血虚血燥,或久病耗伤导致的脾肾不足。青少年及成人AD病位在脾,与肝、肾密切相关,急性期病机多为肝经湿热,血热生风;慢性期多为脾虚湿蕴,燥湿互化;稳定期多为脾虚血燥、阴虚血燥或脾肾不足。老年AD病位在肾,与脾密切相关,急性期病机多为顽湿蕴肤,慢性期及稳定期多为脾肾不足。对于其辨治思路的把握应从以下几点入手:重视先天肾精,加强调理禀赋;固护后天脾胃,调养五脏;从年龄、分期、虚实等多角度辨治,标本兼顾;重视预防调护,内外并重,关注整体。采用中医多种治疗手段,调理禀赋,辨证论治,同时发挥中医优势,对于指导AD临床诊治具有重要的意义。

发作性睡病的中医临床诊治现状

综述发作性睡病的中医临床诊治现状。发作性睡病是一种罕见的睡眠障碍性疾病,与中医学“嗜睡”“多寐”“嗜卧”“多卧”“善眠”“但欲寐”等症状相似。本病病位在心和脑,以虚证为主,主要有脾虚湿困型、心肾不足型、阳气虚弱型、髓海不足型;兼见实证,主要有肝胆郁热型、痰浊阻滞型、风邪阻络型、气滞血瘀型、心火亢盛型。对于发作性睡病的治疗,在辨证论治的同时,还需将辨病与辨证相结合,也可运用针灸疗法。

酒精使用障碍和精神分裂症共同表达的核心基因筛选和潜在分子机制分析

目的:应用生物信息学方法筛选酒精使用障碍(AUD)和精神分裂症(SCZ)具有共同表达趋势的关键基因和相关分子机制。方法:从基因表达综合数据库下载AUD基因表达数据集GSE161986以及SCZ基因表达数据集GSE53987、GSE17162和GSE21138。对上述基因表达数据集进行标准化处理并筛选在AUD和SCZ中均存在显著差异表达基因(DEGs)。使用注释可视化与综合发现数据库(DAVID)对筛选到的DEGs进行富集分析,使用相互作用基因的搜索工具数据库(STRING)和Cytoscape软件进行蛋白-蛋白互作(PPI)网络构建并筛选两种疾病共有的关键基因。使用AUD芯片数据集GSE44456和SCZ芯片数据集GSE87610对筛选出的潜在核心基因进行验证分析。结果:共筛选出95个DEGs,表达上调的DEGs主要参与凋亡过程的负调控和NF-kappa B信号通路调控;表达下调的DEGs主要参与化学突触传递和神经活性配体-受体相互作用通路。金属硫蛋白基因(MTIG)、MT2A和微白蛋白基因(PVALB)可能是AUD和SCZ共病以及导致酒精所致精神障碍发病的潜在关键基因。结论:MTIG、MT2A和PVALB表达异常可能在AUD和SCZ共病及酒精所致精神障碍的发病过程中起到关键作用,并可能作为上述相关疾病诊断和治疗的潜在分子靶标。

中医药治疗儿童抽动障碍的研究进展

近年来,儿童抽动障碍的发病率呈现出明显增加的趋势。这种疾病一旦发生,反复发作且治愈困难,给患儿和家庭带来了巨大的负担。文章总结了该病的病因病机与体质虚弱、肝肾不足、心脾失调等因素密切相关,并从内与外两个方面总结了中医药治疗儿童抽动障碍的具体方法。内治法主要包括中药内服和针灸等内部调理措施,外治法则注重外部刺激和调理,如推拿按摩、艾灸等手段,通过调整体内阴阳平衡和气血流通达到治疗儿童抽动障碍的目的。现代医学在治疗这种疾病方面方法单一,往往存在明显的不良反应。与此相比,中医药治疗儿童抽动障碍具有方法丰富、不良反应小和临床疗效明显等诸多优势。文章还分析了影响儿童抽动障碍治疗效果的因素。除了个体差异和病情严重程度外,家庭环境、教育方式等因素也对治疗产生一定的影响。因此,在治疗过程中,除了医生的专业治疗外,家长和学校的积极配合也是非常重要的。综上所述,中医药治疗儿童抽动障碍具有明显的优势。文章对相关文献进行总结和分析,为临床诊疗提供参考和借鉴。未来的研究和实践需要进一步深入,以探索更有效的治疗方法,改善儿童抽动障碍的预后效果,为患儿健康成长提供更好的支持和帮助。

反复静脉钙刺激对慢性肾衰竭大鼠血管钙化的影响

目的探讨反复静脉钙刺激对腺嘌呤饮食诱导的慢性肾脏病(chronic kidney disease,CKD)大鼠主动脉钙化的影响。方法选择SD大鼠32只,采用数字表法随机分为对照组和模型组,基线时检测血清肌酐、尿素氮、钙、磷水平,分别给予正常饮食或0.75%腺嘌呤饮食喂养,6周后全部更换为普通饲料。对照组和模型组大鼠再分别随机分为两组,共四组:对照+氯化钙组(Cont+CaCl_(2))、对照+0.9%(质量分数)氯化钠注射液(以下简称生理盐水)组(Cont+NaCl)、模型+氯化钙组(CKD+CaCl_(2))、模型+生理盐水组(CKD+NaCl),每组8只。分别采用隔日尾静脉注射氯化钙溶液(100 mg/kg)或等量生理盐水共8周,随后将大鼠处死,取血清检测肌酐、尿素氮、钙、磷水平;留取主动脉测定血管钙含量并进行Von Kossa染色观察有无钙化发生,采用免疫组织化学染色法观察成骨转分化指标成骨细胞特异性和转录因子(runt-related transcription factor 2,Runx2)的分布和表达情况,采用Western blotting法检测成骨转分化指标骨形态蛋白2(bone morphogenetic protein 2,BMP-2)的蛋白表达。结果基线时各组大鼠体质量及生化指标差异无统计学意义(P>0.05);第14周结束时与对照组相比,模型组大鼠血清肌酐、尿素氮水平升高,血钙降低、血磷升高,差异有统计学意义(P<0.05);与CKD+NaCl组比较,CKD+CaCl_(2)组血清钙、磷水平及主动脉钙含量差异无统计学意义(P>0.05),两组大鼠主动脉Von Kossa染色均为阴性;与对照组相比,模型组主动脉Runx2和BMP-2表达增加;与CKD+NaCl组比较,CKD+CaCl_(2)组主动脉Runx2和BMP-2表达差异无统计学意义。结论在本实验条件下,反复静脉钙刺激对腺嘌呤饮食诱导的CKD大鼠无诱发主动脉钙化作用,对主动脉成骨转分化情况无明显影响。

下焦积聚类病分期辨治特点

历代医家对下焦积聚的发生形成了不同病因理论,结合不同的病程阶段与病人体质,提出各种治疗理念,积之始起属寒,当顺气通络化痰瘀、平调寒热解恶气、解毒调血散固结,用辛暖药物消导之。积若久化为热,用辛凉药以推之,并鼓舞胃气、固护真阴,攻消补散,因势利导。若积病新起,正气未伤,当以积聚为急,速功为宜,若积久伤元,当以恢复元气为要,缓行其法。临床分期拟定其治则治法,达到扶正固本祛邪等目的。