Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome

The 22q11.2 Deletion Syndrome (DiGeorge/velocardiofacial syndrome) is associated with elevated rates of psychosis, and is also characterized by severe attentional difficulties and executive dysfunction. Behavioral manifestations of this syndrome could result from haploinsufficiency of the catechol-O-methyltransferase (COMT) gene, located within the 22q11 region. The goal of the present study was to examine COMT genotype in relation to behavioral symptomatology in this syndrome. Val^158/108Met was genotyped in 38 patients (16 Met/-, 22 Val/-) with confirmed 22q11.2 deletions who had received the Child Behavior Checklist (CBCL) as part of a comprehensive evaluation. Results indicated that the Val genotype was associated with significantly greater internalizing and externalizing behavioral symptomatology in children with 22q11.2 deletions. Val allele status was associated with a greater-than-four-fold increase in risk for clinically significant behavior problems in children with this syndrome. These data are consistent with previous findings of increased psychopathology associated with the Val genotype in normal individuals and suggest that a functional genetic polymorphism in the 22q11 region may influence behavior in individuals with COMT haploinsufficiency.     

Fatigue,emotional functioning,and executive dysfunction in pediatric multiple sclerosis

Objective: Fatigue, depression, anxiety, and executive dysfunction are associated with multiple sclerosis (MS) in adults. Existing research suggests similar problems in pediatric MS, but relationships between these variables have not been investigated. This study investigates the associations between executive functioning and fatigue, emotional functioning, age of onset, and disease duration in pediatric MS.

Methods: Twenty-six MS or Clinically Isolated Syndrome (CIS) patients, ages 7 to 18, were evaluated through a multidisciplinary demyelinating diseases clinic. Participants completed neuropsychological screening including Verbal Fluency, Digit Span, and Trail-Making Test. Parents completed rating forms of behavioral, emotional, and executive functioning. Patients and parents completed questionnaires related to the patient’s quality of life and fatigue. Pearson’s correlation coefficients were calculated to investigate relationships between fatigue, emotional functioning, and executive functioning, as well as to examine correlations between parent and child reports of fatigue.

Results: Rates of parent-reported anxiety, depression, fatigue, and executive dysfunction varied widely. Means were below average on the Trail-Making Test and average on Verbal Fluency and Digit Span, though scores varied widely. Various fatigue and emotional functioning indices—but not age of onset or disease duration—significantly correlated with various performance-based measures of executive functioning.

Conclusion: Results indicate pediatric MS is associated with some degree of fatigue, emotional difficulties, and executive dysfunction, the latter of which is associated with the two former. Notably, age of onset and disease duration did not significantly correlate with executive functioning. Results advance understanding of psychological and clinical variables related to neurocognitive outcomes in pediatric MS.     

Impact of cognitive profile on social functioning in prepubescent females with Turner syndrome

Social deficits are prevalent in Turner syndrome (TS); however, the extent to which these difficulties are secondary to characteristic cognitive impairments is not well known. Here, we sought to establish the relative contribution of executive functions, visuospatial abilities, and IQ to social difficulties in young girls with TS. Forty TS girls and 19 typically developing (TD) children were assessed with the Social Responsiveness Scale (SRS), the Motor-Free Visual Spatial Test (MVPT-3), the Behavior Rating Inventory of Executive Function (BRIEF), and an IQ test. Hierarchical multiple regression analyses were conducted with the SRS subscales as outcome variables. In a first step, the cognitive factors were entered (verbal IQ, BRIEF global score, MVPT-3, and age), followed by the group variable in a second step. In comparison to TD, TS participants were significantly impaired on all main measures. All six regression models with the SRS subscales were significant and revealed that global executive functions explained the largest portion of the variance on all subscales and the total score. Even after controlling for cognitive elements, the group factor still explained a significant portion of the variance of the Social Cognition, Social Awareness, and Autistic Mannerisms subscales. In contrast, the group factor was not a significant predictor of Social Motivation and Social Communication scores. These results suggest that executive dysfunctions play a role in social impairments encountered in TS, but also that some specific aspects of social behavior are altered beyond what can be attributed to cognitive difficulties in this population.     

疾病分类:中医学认识疾病的重要方法

分类在人类认识事物的过程中扮演着至关重要的角色。纵观古今中医界,疾病分类的思想广泛存在,表明古今医家能够在临床实践中发现疾病的规律。不同种类的疾病所需治疗方法存在着明显差别,医者在临床中若将不同的疾病相混淆极可能给患者的健康造成巨大的伤害。因此,古今医家都试图构建出完善的疾病分类框架。分类的思想亦有助于理解辨证论治概念的实质。中医界过往多从本质的角度解释辨证论治,然而中医学中不可检验的概念无法被认为是疾病本质的真实反映。中医学之辨证论治实际上是辨类论治。     

基于厥阴病认识回光返照与濒死体验

认识死亡,是为了更好地活着。解锁死亡的奥秘,是为了给患者搏得一线生机。厥阴即阴尽,是阴尽阳生、阴阳转化的枢机。回光返照和濒死体验均以厥阴病为机理,前者是阴阳离决之象,体现为濒临死亡者出现除中、烦躁等客观表现;后者则是魂游幻境之象,表现为死而复生者穿过黑暗进入光明等主观感受。通过厘清二者概念,比较二者差异,总结出枢机正常运转和真阳生生不息这两大维持生命的要素。追本溯源,基于厥阴病之理法方药剖析死亡谜题。乌梅丸顺应肝木曲直之本性,四逆汤温补浮越欲绝之火种。通调枢机、补火铸魂,以期阴尽阳生、魂兴命复。

     

经前期综合征与奖赏进程失调——来自脑电的证据

研究表明,经前期综合征(Premenstrualsyndromes,PMS)女性的情绪平衡性存在问题,而现有研究多从负性情绪上升的角度考察PMS的发病机制,而对其正性情绪缺损的关注不足。鉴于正性情绪与奖赏进程密切相关,本研究试图从奖赏进程失调的角度考察PMS女性与健康女性的差异以及该差异是否存在阶段特异性的问题,以期从正性情绪缺损的角度揭示其发病机制。具体而言,分别选取PMS女性与健康女性23名和22名,考察两组被试在黄体晚期(即经前期)和卵泡早期(即经后期)正性情绪以及完成赌博任务时的脑电数据时域和频域的差异。主观问卷结果显示,PMS女性的愉快和平静情绪低于健康女性,并且情绪平衡性也低于健康女性,但无明显的阶段特异性。时域分析结果显示, PMS组在经前期收到奖赏反馈后奖赏正波(reward positivity, RewP)的波幅和差异波(即奖赏条件和惩罚条件下的差值)的波幅均低于健康女性,进一步的相关分析结果显示,对于PMS组来说,经前期奖赏条件下的Rew P波幅和差异波波幅与经前期的情绪平衡性显著正相关。频域分析的结果则发现PMS组在经前期奖赏条件下的θ频段(4～7 Hz, 25...     

腹内压的变化对肠道氧合及功能的影响

以胃黏膜pH值及血浆D-乳酸为监测指标,观察腹高压患者的腹内压变化前后胃肠道氧合及功能的变化。本研究提示胃黏膜pH值可以反映胃肠道的缺血,且早于腹腔间隙综合征出现,可敏感反映腹高压时肠道氧舍情况;血浆D-乳酸可反映肠缺血再灌注时肠屏障功能状态。以上观察为临床提供简便易行的监测手段及治疗思路。     

Long-term follow-up of internet-delivered exposure and mindfulness based treatment for irritable bowel syndrome

We conducted a follow-up of a previously reported study of internet-delivered cognitive behavior therapy (CBT) for IBS, based on exposure and mindfulness exercises (Ljótsson et al. (2010). Internet-delivered exposure and mindfulness based therapy for irritable bowel syndrome – a randomized controlled trial. Behaviour Research and Therapy, 48, 531–539). Seventy-five participants from the original sample of 85 (88%) reported follow-up data at 15–18 months (mean 16.4 months) after completing treatment. The follow-up sample included participants from both the original study’s treatment group and waiting list after it had been crossed over to treatment. Intention-to-treat analysis showed that treatment gains were maintained on all outcome measures, including IBS symptoms, quality of life, and anxiety related to gastrointestinal symptoms, with mainly large effect sizes (within-group Cohen’s d = 0.78–1.11). A total of fifty participants (59% of the total original sample; 52% of the original treatment group participants and 65% of the original waiting list participants) reported adequate relief of symptoms. Improvements at follow-up were more pronounced for the participants that had completed the full treatment and maintenance of improvement did not seem to be dependent on further treatment seeking. This study suggests that internet-delivered CBT based on exposure and mindfulness has long-term beneficial effects for IBS-patients.