Behaviour problems in adult women with Rett syndrome

Background Despite considerable interest in the genetic, physical and neurological aspects of Rett syndrome (RS), there have been few studies of associated behavioural and emotional features. Furthermore, few case studiesor surveys have included adult women with RS. The main aim of the present study was to compare behaviour problems in a sample of women with RS against data from normative samples. Methods The primary carers of 50 women with RS completed the community version of the Aberrant Behavior Checklist. Results Women with RS were rated as having lower levels of irritability, hyperactivity and inappropriate speech behaviours than normative samples of adults with intellectual disability. Conclusions A number of factors may affect the presentation of behaviour problems in women with RS (e.g. cognitive impairments or physical disabilities). Therefore, more research is needed in order to generate information about the behavioural phenotype of RS. The implications of the present data for future research are also discussed.     

胃壁内迷走胰腺的X线征象

目的提高对胃壁内迷走胰腺的认识。方法回顾性分析4例手术病理证实的胃壁内迷走胰腺的临床和钡餐检查X线表现。结果4例胃壁内迷走胰腺均发生在胃窦部近幽门区大弯侧,钡餐表现为轮廓较光滑的圆形或卵圆形充盈缺损,直径1～4cm,形态、位置固定,不随胃蠕动或触压而改变;临近黏膜可规整或粗乱,其中,典型的"脐样"征1例。结论主要X线征象为位于胃窦部幽门区大弯侧边缘光滑、位置固定、无溃疡的充盈缺损,难与息肉或平滑肌瘤或间质瘤等鉴别。     

Changes in the retino-fugal pathways following cortical and tectal lesions in neonatal and adult rats

Summary Several months after unilateral removal of the striate cortex or superior colliculus, or both, in infant and adult rats the retinal projections were studied autoradiographically. The retinal projection areas in adult-operated animals were not different from those of unoperated controls, but aberrant pathways were found in the infant group. Following removal of striate cortex there was a small aberrant pathway to the lateral posterior nucleus of the thalamus (LP) and possibly to the pretectum. After removal of the superior colliculus there was a conspicuous aberrant projection to LP, which was even more prominent after combined removal of striate cortex and superior colliculus. The results support the proposal that when the normal field of termination is damaged, either directly by a tectal lesion or indirectly by a cortical lesion, axons grow and innervate LP, which has been partly deafferented by the lesion and which consequently possesses vacant synaptic space. Although the different consequences of early and late lesions may indicate that only infantile damaged terminals can redistribute themselves an alternative is that in infants many axons have not yet reached their normal terminal sites at the time of operation and that only those axons have the ability to continue growing and to form an aberrant pathways. The role of the aberrant pathway in vision is unknown.     

Individual corticorubral neurons project bilaterally during postnatal development and following early contralateral cortical lesions

The corticorubral projections in adult cats are primarily uncrossed. However, early in development and after early unilateral lesions of the sensorimotor cortex, crossed corticorubral projections are also observed. The present study was performed to disclose (1) whether the crossed projections originate from neuronal subpopulations different from those producing uncrossed ones and (2) how the neurons that give rise to the crossed projections in the lesioned animals are related to those occurring in normal development. We injected fluorescent latex microspheres into the red nucleus of two groups of animals: (1) intact kittens at postnatal week 3 and (2) kittens that had received unilateral ablation of the cerebral cortex at this stage and were then allowed to survive for at least 4 weeks. Red fluorescing microspheres were injected on one side and green ones on the other. In both normal and lesioned kittens, a number of cells in the cortex were labeled as a result of the contralateral as well as the ipsilateral injections, and no difference in size or distribution was found between the cells labeled from contralateral and ipsilateral injections. More than half of the cells labeled from contralateral injections were double-labeled in both groups of animals. These results indicate that individual corticorubral cells project bilaterally in normal development as well as following unilateral lesions of the cortex. With respect to the cells producing crossed projections, they were similar in both laminar and regional distributions between the intact and lesioned animal, suggesting that the crossed projections arise from the same neuronal subpopulation before and after cortical lesions. This view was supported by sequential injections of the tracers, which indicated that cells normally projecting contralaterally maintained the crossed projection after the lesions. Taking into account our previous observations that growth and proliferation of crossed corticorubral axons took place in the red nucleus (Murakami et al. 1991a), it is likely that growth and proliferation of the axons in denervated targets play a major role in lesion-induced establishment of aberrant projections.     

Aberrant retinal projections to midbrain targets mediate spared visual orienting function in hamsters with neonatal lesions of superior colliculus

Summary Rodents, cats, and most nonmammalian vertebrates with bilateral tectal deafferentation or ablation in adulthood are extremely deficient at orienting to visual stimuli; yet animals with neonatal lesions of superficial layers of the superior colliculus (SC) show partial sparing of this response, particularly for targets in the central visual field. In this study, we sought to determine whether these spared orienting abilities are mediated by aberrant retinal projections to the remaining intermediate layers of the SC, or whether visual cortex (VC) mechanisms or alternative behavioral strategies are responsible. Neonatal golden hamsters received either bilateral heat lesions of the SC (rlSC), or a heat lesion of the right SC and enucleation of the right eye (rSCrE). This latter procedure causes axons from the left eye to recross the tectal midline and terminate in the wrong (left) SC (Schneider 1973). As adults, both groups of hamsters were extremely deficient in visually guided approach to stationary targets, although rlSC-lesioned hamsters showed some sparing for central field targets and rSCrE-lesioned hamsters often made wrong-direction turns for targets in the left peripheral field. We then subjected both groups of neonatally lesioned hamsters to bilateral aspiration lesions of the VC. Retesting showed no change in visual orienting behavior as a result of the cortical lesions. Labeling of the optic tract with horseradish peroxidase (HRP) revealed abundant aberrant retinal projections to remaining intermediate layers of the SC and thalamic nucleus lateralis posterior (LP), as well as supernormal innervation of pretectal nuclei, the dorsal terminal nucleus of the accessory optic tract, and the ventral nucleus of the lateral geniculate body (LGv). We conclude that the spared visual orienting capabilities of hamsters with rlSC and rSCrE lesions are mediated by the aberrant midbrain projections, and that cortical mechanisms are not involved in spared visual orienting functions following these neonatal lesions.     

Dysphagia lusoria: proposal of a new treatment

Summary Recent observation of one patient suffering from dysphagia lusoria has suggested critical review of treatment of the symptomatic aberrant right subclavian artery. Surgical correction of such an anomaly is difficult and may produce serious complications, and is not always successful. Endoscopic dilatation of the oesophageal stricture, even though it might only produce temporary relief of dysphagia, represents a valid therapeutical alternative because of its favourable cost/benefit ratio, low incidence of complications and patient acceptability.     

1例用药错误事件的分析与改进

采用根本原因分析及行动法对1例儿科用药错误事件进行分析,确定根本原因,从人员、环境、制度等方面提出针对性改进措施。采取措施后,类似不良事件未再发生。建议医疗机构加强关键环节的有效沟通,鼓励患者参与医疗安全管理,营造病区安静环境,严格执行查对制度,正确识别患者身份,优化护理人力资源配置,以保证患者用药安全。     

Asbestos exposure and tuberculous pleurisy as developmental causes of progressive unilateral upper-lung field pulmonary fibrosis radiologically consistent with pleuroparenchymal fibroelastosis

BackgroundUnilateral upper-lung field pulmonary fibrosis (upper-PF), which is radiologically consistent with pleuroparenchymal fibroelastosis, develops after thoracic surgery. In most patients with unilateral upper-PF, aberrant intra-/extra thoracic air commonly emerges and an autopsy shows chronic pleuritis, which indicates that pleural involvement is associated with upper-PF development. If so, there may be patients with unilateral upper-PF who have a history of pleural involvement, including tuberculous pleurisy (TP) or asbestos exposure (AE). This study aimed to examine this supposition.MethodsWe examined the radiological reports of all consecutive patients from 2012 to 2018 to investigate whether there were patients having unilateral upper-PF and a history of TP or AE.ResultsEight patients were included in the study. Five patients had a history of TP, and the remaining three had that of AE. All patients were men and had respiratory symptoms, and seven patients presented with restrictive ventilatory impairment. The interval between TP or last AE and upper-PF development was long, with a median of over 20 years. The upper-PF lesion was commonly located in the right lung, and aberrant intrathoracic air was observed in five patients during their clinical course. Additionally, the upper-PF lesion transformed into a cystic lesion in six patients, which resulted in Aspergillus infection in two patients. The prognosis was poor, with a median overall survival of 38 months.ConclusionsUnilateral upper-PF developed even in patients with a history of pleural involvement. Our results indicate that pleural involvement plays an important role in the development of unilateral upper-PF.     

Surgical treatment for the aberrant internal carotid artery in the middle ear with pulsatile tinnitus

Many previous reports have indicated that pulsatile tinnitus caused by an aberrant internal carotid artery (ICA) should not be treated surgically because of the risk of infection or aneurysm formation. We herein describe a case of aberrant ICA treated by middle ear surgery for which we introduced a novel approach. An 84-year-old man was presented with a one-year history of tinnitus in his right ear. Otoscopic examination demonstrated a whitish mass in the antero-inferior quadrant of the tympanic membrane associated with rhythmic pulsation. Images obtained by CT, MRI and MRA revealed protrusion of the ICA into the tympanic cavity, making contact with the tympanic membrane. Surgery to separate the tympanic membrane from the ICA was performed in order to relieve the pulsatile tinnitus. After the operation, the patient's aural activity was preserved and the tinnitus did not recur within a follow-up period of one year. In the present case, delicate middle ear surgery was effective for relief of the tinnitus. When treating patients with aberrant IAC showing features similar to the present case, the surgical approach we have described is worth attempting.     

Autism spectrum disorder and vitamin D status: A cross-sectional study of children in a developing country in Southeast Asia

BackgroundDetermine the prevalence and risk factors of vitamin D deficiency (<35 nmol/L) in children with autism spectrum disorder (ASD); and explore the association between vitamin D deficiency with ASD severity and behavioural symptoms.MethodCross-sectional study of children with ASD at a tertiary hospital. Children with vitamin D deficiency (<35.0 nmol/L) were treated (1200IU cholecalciferol, daily for 3 months). ASD severity was determined via the Childhood Autism Rating Scale, 2nd Edition (CARS-2); and behavioural symptoms via the Aberrant Behaviour Checklist, 2nd Edition (ABC-2). Scores were compared between the vitamin D deficient and non-deficient groups.ResultsThere were 103 participants (85.4 % male). Mean age: 6.2 years (SD = 2.4), 19 % were vitamin D deficient and 42 % were insufficient. Mean vitamin D concentration was 45.8 nmol/L (SD = 13.5). Female gender was significantly associated with vitamin D deficiency (OR 5.05, 95 % CI: 1.56, 16.31, p = 0.007). Post-vitamin D treatment, there was a significant reduction in CARS-2 scores (p < 0.05), but not ABC-2 scores.ConclusionsNearly two-thirds (61 %) of Malaysian children with ASD have vitamin D deficiency (19 %) and insufficiency (42 %). Vitamin D treatment among vitamin D deficient children with ASD resulted in improvement in ASD symptom severity but not behavioural symptoms.