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。     

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.

     

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.     

Lithium for irritability in Post-Traumatic stress disorder

Irritability is often a problem for patients with Post-Traumatic Stress Disorder (PTSD). We describe two cases that illustrate the use of lithium in the treatment of veterans with PTSD who complained of serious problems with irritability or angry outbursts. These cases are discussed in the context of evidence that lithium may be useful in other patients with disorders of impulse control. The evidence linking disorders of anger and impulse control to a dysregulation in neurotransmitter regulation, particularly in serotonergic pathways, supports a psychopharmacologic approach to treatment. These findings should lead to further study of the role of lithium in the treatment of this symptom complex in patients with PTSD.     

Familial Sneddon's syndrome

We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings. Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena. Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis.     

Synapses of cone horizontal cell axons in goldfish retina

The axon terminals of cone horizontal cells in the goldfish retina form typical chemical synaptic contacts in the middle of the inner nuclear layer. Approximately 60% of the identified postsynaptic elements were perikarya, axons and dendrites of bipolar cells. The other identified postsynaptic elements were perikarya and processes of interplexiform cells. We propose that the horizontal cell axon terminal contribute to the antagonistic surround responses of the bipolar cells and that they modulate inputs to the outer plexiform layer conveyed by interplexiform cells. Output synapses from horizontal cell axons to unidentified neuronal processes as well as occasional input synapses to the axons from interplexiform cell processes and unidentified perikarya were also observed in the same region of the inner nuclear layer.     

抑郁障碍患者人格特征与发病关系的研究

目的探讨抑郁障碍患者的人格特征与其疾病发病间的关系。方法采用自评抑郁量表(SDS)、艾森克人格问卷 (EPQ)、应对方式评定量表 (WCRS)和归因方式问卷 (ASQ)对 76名抑郁障碍患者进行测试 ,同时选取 84名健康被试进行对照研究。结果①抑郁组患者在EPQ中神经质 (N)与精神质 (P)的得分显著高于健康组。②WCRS的结果显示在“宣泄接纳”、“退避调节”两个因子上 ,抑郁组的平均得分低于健康组。③在ASQ的得分中 ,抑郁组在负性事件归因的自身性、持久性和整体性均显著高于健康组。④抑郁障碍患者的“神经质”人格特质与应对方式的“宣泄接纳”和“退避调节”因子呈负相关 (r = 0 .474)。结论抑郁障碍患者的人格特征可表现为较强的神经质及孤僻、交往障碍 ,他们这种人格特征及应对和归因方式在其发病过程中起着重要作用。