Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.     

颞颌关节不可复性盘前移位上腔造影与关节腔冲洗的临床应用

目的 通过TMJ上腔造影，结合关节腔冲洗、注药及术后下颌磨牙区牙合垫治疗不可复性盘前移位。方法 根据病史结合临床症状选取38例患者，其中单纯性不可复性盘前移位患者15例，合并滑膜炎表现23例。按常规进行关节上腔造影术后拍摄数字化TMJ开闭口断层片、开口度检查，部分患者使用生理盐水进行关节腔冲洗。冲洗后根据病情，关节腔内注入强地松龙或透明质酸钠，注药后再次测量开口度。结果 不可复关节盘移位开口度及髁突侧向运动度明显增加。合并滑膜炎者疼痛症状减轻。结论 TMJ关节上腔造影结合关节腔冲洗注药及He垫治疗，可明显增加开口度、髁突运动度。减轻关节疼痛。因此，是一种治疗早期不可复性盘前移位的有效方法。     

英语阅读障碍儿童词汇命名加工特征的研究

目的研究英语阅读障碍儿童操作英语词汇的相关能力 ,探索英语阅读障碍的表现特点与矫治的手段。方法英语真、假词命名实验 ,观察 3 4名阅读障碍儿童和 3 4名对照组儿童的实验结果。结果 ( 1)障碍组右视野在真、假词的命名时间上与对照组存在显著差异 ;( 2 )障碍组在真词和假词上的命名错误率均大于正常组 ,假词命名的错误率大幅增加。 ( 3 )障碍组右视野的真词命名时间明显长于左视野 ,假词命名的错误率也明显大于左视野。结论英语阅读障碍的儿童显示出了操作英语语音能力的欠缺以及左测大脑半球活动水平不足的倾向。     

Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth

A boy with rhizomelic chondrodysplasia punctata, diagnosed on the laboratory evidence of a high plasma concentration of phytanic acid and a low erythrocyte concentration of plasmalogens, has been followed from birth to the age of 16 years. The clinical pattern (somatic, skeletal and neurological) tallies with published findings in this disease. Unusual findings are the associated epilepsy, confirmed by EEG, and the long survival. CT brain scan and MRI showed cortical and subcortical atrophy but not gyral abnormalities or demyelination.

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Sommario Viene descritto il caso di un bambino affetto da condrodisplasia punctata rizomelica seguito dalla nascita fino ai 16 anni. La diagnosi clinica, efettuata in base alle caratteristiche somatiche, scheletriche e neurologiche del paziente è stata confermata dai reperti di laboratorio (alta concentrazione plasmatica di acido fitanico, bassa concentrazione di plasmalogeni eritrocitari). Come correlati inusuali del quadro clinico vanno segnalati l'associazione con epilessia e a la lunga sopravvivenza. La TAC e la RNM cerebrale hannovaltresì documentato atrofia corticale e sottocorticale ma non anomalie della girazione o demielinizzazione.

     

从近两年132例青少年心理咨询得到的启示

目的 了解青少年学生的心理问题和心理障碍，以及对其进行心理咨询的重要意义。方法 从门诊详细记录的案例进行统计分析。结果 132例青少年学生采访者的心理问题和心理障碍占前四位的是：学习问题（占74．2％）、行为问题（占18．9％）、青春期适应不良（占15．9％）和人际关系问题（占7．6％）。还有2人是偏执性精神病（占1.5％）。结论 对青少年学生进行心理咨询很有必要，来访者有咨询动机很重要，重视第一次会谈，同理心的重要作用，明确诊断，做好记录，寻找主题和切入点，折衷整合治疗是必然的趋势。     

Kluver-Bucy综合征

Kluver-Bucy综合征是一种较罕见的神经精神障碍引起的综合征，其特征为视觉失认、口部探索、饮食习惯改变、对视觉刺激过度注意、平静淡漠、性欲增强等，此外还有一些表现如失语、遗忘、痴呆和癫痫可能是人类所特有的。Kluver-Bucy综合征常由双侧颞叶病变引起。     

Mass-fractal-like microstructure and proton disorder in nanostructured pseudoboehmite: a neutron-scattering study

Boehmite (γ-AlOOH) is often the initial product in sol–gel syntheses of high surface-area alumina powders. Depending on the processing routes, the microstructure of an AlOOH powder can be tailored to exhibit nanometer particle size and complex interfacial OH sites. Neutron small-angle scattering (SANS) and spectroscopy were utilized to characterize the microstructure and hydrogen vibrations of a nanostructured pseudoboehmite and a highly crystallized boehmite powder. The SANS data reveal a mass-fractal-like microstructure in pseudoboehmite. The vibrational bands of hydrogen atoms in pseudoboehmite are broad, which is indicative of a high degree of proton delocalization and disordered OH sites.     

伴ADHD的对立违抗性障碍儿童行为特征分析

目的：了解伴注意缺陷／多动障碍(ADHD)的对立违抗性障碍(0DD)患儿的行为特征。方法：以ICD-10作为诊断标准对门诊就诊儿童进行诊断，得到ODD伴ADHD者40例(64.52％)．ODD不伴ADHD者22例(35．48％)。自编家庭情况调查表调查患儿的基本情况。用家长填Achenbach儿章行为量表评定儿童行为。结果：与ODD组相比。合并ADHD组的家长更多对患儿经常打骂和严厉管教：对儿童的不良行为更多地采取打骂的方式。合并组父亲急燥易怒者比ODD组多；合并组起病年龄及就诊年龄比ODD组早：合并组在CBCI。思维、注意问题，违纪、攻击行为，外化性问题，行为总分均高于ODD组。结论：ODD合并ADHD的患儿在思维、注意问题，违纪、攻击行为，外化性问题方面表现更突出，家长对儿童管教方式及不良行为处理方式影响ODD的发生。提示要注重ODD、ADHD的早期干预。     

抑郁症患者心理治疗的临床研究

目的 通过对照的方法,对抑郁症患者使用单纯抗抑郁药物治疗和药物合并心理治疗的疗效进行比较,探讨心理治疗在抑郁症患者治疗中的作用.方法 选取抑郁症患者120例,随机分成两组.对照组60例,男女各半,年龄18～65岁,平均(38.9±2.53)岁;心理治疗组60例,男女各半,年龄19～67岁,平均(39.7±3.12)岁.两组患者均给予帕罗西汀(商品名赛乐特)20mg/d,对照组单纯用药物治疗,心理治疗组药物加心理治疗,疗程8周.分别于第0周(基线)、干预后第2周、第4周、第8周使用汉密顿抑郁量表(HAMD)和抑郁自评量表(SDS)进行评分.结果 药物合并心理治疗组的治疗效果优于对照组(P＜0.05),且治疗时间越长,两组的疗效差异越明显.结论 心理治疗对抑郁症患者的康复有积极的作用,药物治疗合并心理治疗较单纯药物治疗更有利.