ISRN Neurology最新文献

Objective. The purpose of this review of the literature was to summarise studies regarding the psychosocial impact of growing up with a sibling with autism and to identify gaps in the related literature. Methods. Electronic databases were reviewed in order to critically appraise the 14 articles relevant to the topic. The search included a combination of the following key words: autism∗, quality of life, well-being, sibling∗, ASD, ASD sibling∗, family, adjust∗, psychological functioning. Results. The majority of studies involved mixed children and adolescent samples, leading to confounding results and an inability to draw accurate conclusions about these distinct life stages. Autism appears to contribute to unique environmental stressors for the typically developing sibling. When experienced in the context of additional demographic risk factors, these stressors can result in difficulties adjusting to the demands of a special-needs child. Despite some vulnerability to behavioural and emotional dysfunction in at-risk children, siblings have the potential to not only adjust but to thrive in the face of disability adversity. Conclusion. Growing up with a sibling with autism appears to manifest in both positive and negative outcomes for siblings, depending upon important demographical, family, and individual variables.

Noncoding RNAs are widely known for their various essential roles in the development of central nervous system. It involves neurogenesis, neural stem cells generation, maintenance and maturation, neurotransmission, neural network plasticity, formation of synapses, and even brain aging and DNA damage responses. In this review, we will discuss the biogenesis of microRNA, various functions of noncoding RNA's specifically microRNAs (miRNAs) that act as the chief regulators of gene expression, and focus in particular on misregulation of miRNAs which leads to several neurodegenerative diseases as well as its therapeutic outcome. Recent evidences has shown that miRNAs expression levels are changed in patients with neurodegenerative diseases; hence, miRNA can be used as a potential diagnostic biomarker and serve as an effective therapeutic tool in overcoming various neurodegenerative disease processes.

Background. Our aim was to investigate the association between migraine, tension type headache, and metabolic syndrome. Methods. Presence of tension type headache and migraine was investigated in 120 patients diagnosed as metabolic syndrome. The severity of the headache was recorded according to the visual analog scale. Results. Mean age of the patients was 54.41 ± 11.60 years (range, 29-84 yrs). Diagnoses of tension type headache and migraine without aura were made for 39 (32.5%) and 18 (15%) patients, respectively. Mean age of migraine patients was significantly lower relative to the patients with tension type headache and no headache. Incidence of hypertriglyceridemia was significantly higher in migraine patients when compared with cases tension type headache and without headache. In the tension type headache group, requirement for analgesics decreased as HDL cholesterol levels increased, while need for analgesic drugs increased in line with higher diastolic blood pressures. In the migraine group duration of headache was found to be prolonged with decreasing HDL cholesterol levels. Conclusion. In patients presenting with headache, its association with metabolic syndrome should be considered, and the patients should be especially observed with respect to response to analgesic and the presence of hypertension and hyperlipidemia.

To date there is only one single-center study that has exclusively reported characteristics, location, and outcomes of spontaneous intracerebral hemorrhages (ICH) among cocaine users. We aimed to describe the radiological location and characteristics along with clinical outcomes of spontaneous ICH in a similar population. We conducted a retrospective chart review of consecutive patients admitted to a tertiary care hospital, with a spontaneous ICH, who had a urine drug screen performed within 48 hours of admission. Exposure to cocaine was defined by a positive urine drug screen within 48 hours of hospital admission. Demographics, radiographic features of ICH, and short-term clinical outcomes of patients with a positive urine drug screen were analyzed and compared with the cocaine negative group. Among the 102 patients analyzed, 20 (19.6%) had documented exposure to cocaine. There was a predominance of males in both groups with significantly more Blacks in the cocaine positive group (P = 0.0246). A statistically significant number of patients with cocaine use had ICH in a subcortical location (P = 0.0224) when compared to cocaine negative patients. There was no difference in GCS, ICH volume, intraventricular extension, ICU days, hospital days, hospital cost, mortality, and ICH score. ICH in cocaine use is more frequently seen in the subcortical location.

Frontal lobe syndromes, better termed as frontal network systems, are relatively unique in that they may manifest from almost any brain region, due to their widespread connectivity. The understandings of the manifold expressions seen clinically are helped by considering evolutionary origins, the contribution of the state-dependent ascending monoaminergic neurotransmitter systems, and cerebral connectivity. Hence, the so-called networktopathies may be a better term for the syndromes encountered clinically. An increasing array of metric tests are becoming available that complement that long standing history of qualitative bedside assessments pioneered by Alexander Luria, for example. An understanding of the vast panoply of frontal systems' syndromes has been pivotal in understanding and diagnosing the most common dementia syndrome under the age of 60, for example, frontotemporal lobe degeneration. New treatment options are also progressively becoming available, with recent evidence of dopaminergic augmentation, for example, being helpful in traumatic brain injury. The latter include not only psychopharmacological options but also device-based therapies including mirror visual feedback therapy.

Purpose. The aim of this study was to develop a streamlined mutation screening protocol for the DMD gene in order to confirm a clinical diagnosis of Duchenne or Becker muscular dystrophy in affected males and to clarify the carrier status of female family members. Methods. Sequence analysis and array comparative genomic hybridization (aCGH) were used to identify mutations in the dystrophin DMD gene. We analysed genomic DNA from six individuals with a range of previously characterised mutations and from eight individuals who had not previously undergone any form of molecular analysis. Results. We successfully identified the known mutations in all six patients. A molecular diagnosis was also made in three of the four patients with a clinical diagnosis who had not undergone prior genetic screening, and testing for familial mutations was successfully completed for the remaining four patients. Conclusion. The mutation screening protocol described here meets best practice guidelines for molecular testing of the DMD gene in a diagnostic laboratory. The aCGH method is a superior alternative to more conventional assays such as multiplex ligation-dependent probe amplification (MLPA). The combination of aCGH and sequence analysis will detect mutations in 98% of patients with the Duchenne or Becker muscular dystrophy.

Evidence suggests that cognitive performance deteriorates in noisy backgrounds and the problems are more pronounced in older people due to brain deficits and changes. The present study used functional MRI (fMRI) to investigate the neural correlates of this phenomenon during short-term memory using a forward repeat task performed in quiet (STMQ) and in noise: 5-dB SNR (STMN) on four groups of participants of different ages. The performance of short-term memory tasks was measured behaviourally. No significant difference was found across age groups in STMQ. However, older adults (50-65 year olds) performed relatively poorly on the STMN. fMRI results on the laterality index indicate changes in hemispheric laterality in the superior temporal gyrus (STG), Heschl's gyrus (HG), and cerebellum, and a leftward asymmetry in younger participants which changes to a more rightward asymmetry in older participants. The results also indicate that the onset of the laterality shift varies from one brain region to another. STG and HG show a late shift while the cerebellum shows an earlier shift. The results also reveal that noise influences this shifting. Finally, the results support the hypothesis that functional networks that underlie STG, HG, and cerebellum undergo reorganization to compensate for the neural deficit/cognitive decline.

The strategies used to perform a verbal fluency task appear to be reflective of cognitive abilities necessary for successful daily functioning. In the present study, we explored potential differences in verbal fluency strategies (switching and clustering) used to maximize word production by patients with relapsing-remitting multiple sclerosis (RRMS) versus patients with secondary progressive multiple sclerosis (SPMS). We further assessed impairment rates and potential differences in the sensitivity and specificity of phonological versus semantic verbal fluency tasks in discriminating between those with a diagnosis of MS and healthy adults. We found that the overall rate of impaired verbal fluency in our MS sample was consistent with that in other studies. However, we found no differences between types of MS (SPMS, RRMS), on semantic or phonological fluency word production, or the strategies used to maximize semantic fluency. In contrast, we found that the number of switches differed significantly in the phonological fluency task between the SPMS and RRMS subtypes. The clinical utility of semantic versus phonological fluency in discriminating MS patients from healthy controls did not indicate any significant differences. Further, the strategies used to maximize performance did not differentiate MS subgroups or MS patients from healthy controls.

Testosterone has been shown to worsen histological and neurological impairment during cerebral ischemia in animal models. Cell culture studies revealed that testosterone is implicated in protecting neural and glial cells against insults, and they started to elucidate testosterone pathways that underlie these protective effects. These studies support the hypothesis that testosterone can be neuroprotective throughout an episode of cerebral ischemia. Therefore, we evaluated the mechanisms underlying the shift between testosterone protective and deleterious effects via block testosterone aromatization and androgen receptors in rats subjected to 60-minute middle cerebral artery occlusion. Fifty rats were divided into five equal groups: gonadally intact male; castrated male; intact male + flutamide; intact male + letrozole; intact male + combination flutamide and letrozole. Our results indicated that castration has the ability to reduce histological damage and to improve neurological score 24 hours after middle cerebral artery occlusion. Moreover, flutamide improved histologic and neurological impairment better than castration. Letrozole induced increases in striatal infarct volume and seizures in gonadally intact rats. Combination of flutamide and letrozole showed that letrozole can reverse beneficial effects of flutamide. In conclusion, it seems that the beneficial effects of flutamide are the prevention of the deleterious effects and enhancement of neuroprotective effects of testosterone during cerebral ischemia.

We report brain electrophysiological responses from 10- to 13-month-old Mexican infants while listening to native and foreign CV-syllable contrasts differing in Voice Onset Time (VOT). All infants showed normal auditory event-related potential (ERP) components. Our analyses showed ERP evidence that Mexican infants are capable of discriminating their native sounds as well as the acoustically salient (aspiration) foreign contrast. The study showed that experience with native language influences VOT perception in Spanish learning infants. The acoustic salience of aspiration is perceived by both Spanish and English learning infants, but exposure provides additional phonetic status to this native-language feature for English learning infants. The effects of early experience and neural commitment as well as the impact of acoustic salience are further discussed.