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Background Understanding hospital costs and length of stay (LOS) can optimize the in-hospital management of acute stroke. We investigated cost and LOS in first-ever and recurrent stroke patients in Taiwan. Methods Data were examined in patients at Chang Gung Memorial Hospital in Chiayi County of Taiwan from April 1, 2005, to March 31, 2007. Predictors of hospital cost and LOS in these patients were studied. Results The study included 1021 patients with 1084 stroke episodes. Mean age was 68.1 ± 10.8 years (range: 32-93). The average cost was NTD$45,709.30 ± NTD$66,697.40 (US$1408.70 ± US$2084.30; US$1 = NTD$32) and average LOS was 13.9 ± 14.1 days (range: 1-129). After multivariate regression analysis, the significant predictive factors for cost were LOS, smoking, and medication for secondary prevention. The significant predictive factors for LOS were diabetes mellitus, atrial fibrillation, recurrence, and stroke subtype. Conclusions Age 65 and over, atrial fibrillation, stroke treatment, and subtypes were the significant predictive factors affecting hospital costs and LOS. Compared to other countries, Taiwan spent the least while Canada had the highest expense. The United States had the shortest LOS (6 days) in contrast to Canada with the longest LOS (34-47 days). Regarding mean daily cost of stroke, the United States had the highest cost per day while China spent the least.

Disuse myopathy can be caused by many disorders. However, disuse myopathy with symmetrical weakness of the proximal muscles in the four limbs is rare. Here we report a 45-year-old man who presented with the appearance of myopathy similar to the clinical picture of limb-girdle syndrome with symmetrical weakness of proximal muscles in four limbs. A battery of intensive investigations confirmed that the patient had symmetric disuse myopathy induced by multiple avascular necroses of hip and shoulder joints. After the patient had received bilateral total hip replacement operations he had remarkable improvement in his muscle power in both lower limbs. This report highlights that some myopathies can be reversed if their underlying causes are correctable.

Department of Physical Medicine and Rehabilitation, Chang Gung Memorial Hospital, Chiayi, Taiwan School of Medicine, Chang Gung University, Taoyuan, Taiwan Department of Diagnostic Radiology, Chang Gung Memorial Hospital, Chiayi, Taiwan College of Medicine and School of Medical Technology, Chang-Gung University, Taoyuan, Taiwan Department of Psychiatry, Chang Gung Memorial Hospital, Chiayi, Taiwan Department of Physical Medicine and Rehabilitation, Chang Gung Memorial Hospital, Kaohsiung, Taiwan Department of Neurology, Chang Gung Memorial Hospital, Chiayi, Taiwan Chang Gung University College of Medicine, Taoyuan, Taiwan Department of Neurology, Taipei Medical University-Shuang Ho Hospital, New Taipei City, Taiwan

Cortical and cerebrovascular amyloid-beta (A-beta) deposition is a hallmark of Alzheimer’s disease (AD), but also occurs in elderly people not affected by dementia. The apolipoprotein E (APOE) epsilon4 is a major genetic modulator of A-beta deposition and AD risk. Variants of the amyloid-beta protein precursor (A-betaPP) gene have been reported to contribute to AD and cerebral amyloid angiopathy (CAA). We analyzed the role of APOE and A-beta PP variants in cortical and cerebrovascular A-beta deposition, and neuropathologically verified AD (based on modified NIA-RI criteria) in a population-based autopsy sample of Finns aged ≥85 years (Vantaa85 + Study; n = 282). Our updated analysis of APOE showed strong associations of the epsilon4 allele with cortical (p = 4.91×10−17) and cerebrovascular (p = 9.87×10−11) A-beta deposition as well as with NIA-RI AD (p = 1.62×10−8). We also analyzed 60 single nucleotide polymorphisms (SNPs) at the A-betaPP locus. In single SNP or haplotype analyses there were no statistically significant A-betaPP locus associations with cortical or cerebrovascular A-beta deposition or with NIA-RI AD. We sequenced the promoter of the A-betaPP gene in 40 subjects with very high A-beta deposition, but none of these subjects had any of the previously reported or novel AD-associated mutations. These results suggest that cortical and cerebrovascular A-beta depositions are useful quantitative traits for genetic studies, as highlighted by the strong associations with the APOE epsilon4 variant. Promoter mutations or common allelic variation in the A-betaPP gene do not have a major contribution to cortical or cerebrovascular A-beta deposition, or very late-onset AD in this Finnish population based study.

Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. © 2010 .

It was recently reported that rs1541160 on chromosome 1q24.2 has a marked effect on survival of amyotrophic lateral sclerosis (ALS) patients by influencing KIFAP3 expression. The cohorts used in that study were collected from ALS specialty clinics. We attempted to replicate these findings in a population-based cohort of 504 Italian ALS patients. None of 140 SNPs genotyped within the KIFAP3 locus (including rs1541160) had an effect on survival (log-rank P value for rs1541160 = 0.47) or on gene expression in that region. These data illustrate the complexities associated with analyzing ALS phenotypes for association.

Mutations in the Cu/Zn superoxide dismutase (SOD1), transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately one third of familial amyotrophic lateral sclerosis (ALS) cases. Mutations in these genes have been found in 1 to 2% of apparently sporadic cases. We present the first case of an ALS patient carrying a de novo missense mutation of the FUS gene (c.1561C>T, p.R521C). This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease.

Although hemodynamic change has been identified as the main mechanism of infarcts in intracranial internal carotid artery dissection, no report has utilized computed tomography perfusion study to evaluate the cerebral flow change in such cases. This report presents a rare case of intrapetrous internal carotid artery dissection with watershed infarction. Additionally, a literature review addresses the clinical profiles and related neuroimaging findings of such patients.

We investigated the relationship between the most common 4977-bp deleted mitochondrial DNA (mtDNA) mutations and the occurrence of sporadic amyotrophic lateral sclerosis (ALS). Primer-shift and quantitative polymerase chain reaction (PCR) were used to determine the 4977-bp deleted mtDNA in the muscle specimens from 36 patients with sporadic ALS and 69 age-matched controls with other neuromuscular disorders. We found that the 4977-bp deleted mtDNA mutations were significantly higher in the ALS patients than controls in both frequency (50.0% vs. 8.7%, P < 0.01) and amount (0.35 +/- 0.53% vs. 0.085 +/- 0.35%, P < 0.05). Subjects with, rather than without, deleted mtDNA were at a significantly higher risk for having ALS after adjustment for age and sex. Moreover, male subjects had a higher risk than female subjects of having sporadic ALS. This study suggested that 4977-bp deleted mtDNA is significantly associated with the occurrence of sporadic ALS.

A fundamental challenge in the post-genome era is to understand and annotate the consequences of genetic variation, particularly within the context of human tissues. We present a set of integrated experiments that investigate the effects of common genetic variability on DNA methylation and mRNA expression in four human brain regions each from 150 individuals (600 samples total). We find an abundance of genetic cis regulation of mRNA expression and show for the first time abundant quantitative trait loci for DNA CpG methylation across the genome. We show peak enrichment for cis expression QTLs to be approximately 68,000 bp away from individual transcription start sites; however, the peak enrichment for cis CpG methylation QTLs is located much closer, only 45 bp from the CpG site in question. We observe that the largest magnitude quantitative trait loci occur across distinct brain tissues. Our analyses reveal that CpG methylation quantitative trait loci are more likely to occur for CpG sites outside of islands. Lastly, we show that while we can observe individual QTLs that appear to affect both the level of a transcript and a physically close CpG methylation site, these are quite rare. We believe these data, which we have made publicly available, will provide a critical step toward understanding the biological effects of genetic variation., Author Summary In this paper, we describe a comprehensive assessment of the correlation between common genetic variability across the human genome, gene expression, and DNA methylation, within human brain. We studied the cerebellum, frontal cortex, temporal cortex, and pons regions of 150 individuals (600 tissue samples). In each tissue, we assessed 27,578 DNA methylation sites and the expression level of 22,184 genes. Our research shows that DNA methylation and RNA expression patterns differ between brain regions. Further, we show that DNA genotype is correlated with gene expression and DNA methylation, particularly when the genetic variation is close to the DNA methylation site or gene.