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We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.  相似文献   
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Objective

To investigate the utility of identifying the superficial circumflex iliac artery (SCIA) via ultrasound as an anatomical landmark for ultrasound-guided femoral nerve block.

Study design

Observational study.

Animals

A group of six canine cadavers weighing >20 kg.

Methods

Pelvic limbs from six canine cadavers were examined to study the relationship between the SCIA and the femoral nerve. Ultrasonographic imaging of the SCIA in each limb was obtained with the transducer placed transversely in the medial aspect of the pelvic limb at the inguinal area. Subsequently, a needle was inserted in close proximity to the femoral nerve using an in-plane technique based on the anatomical relationship between the SCIA and femoral nerve. A total of 0.1 mL of colored latex was then injected at the location where the femoral nerve was expected to be in relationship to the SCIA. Gross dissection of the inguinal region in each pelvic limb was performed after injection. Positive nerve location was defined when the colored latex was in contact with the femoral nerve.

Results

A total of eleven pelvic limbs were injected because the SCIA could not be successfully visualized in one limb. Upon dissection, colored latex was found to be in direct contact with the femoral nerve in all 11 injected limbs.

Conclusions and clinical relevance

We concluded that the ultrasonographic visualization of the SCIA assisted in the accurate deposition of dye in proximity to the femoral nerve of canine cadavers. Further investigation will determine the efficacy of this technique for performing femoral nerve blocks.  相似文献   
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A wide variety of nonexcitable cells generate repetitive transient increases in cytosolic calcium ion concentration ([Ca2+]i) when stimulated with agonists that engage the phosphoinositide signalling pathway. Current theories regarding the mechanisms of oscillation disagree on whether Ca2+ inhibits or stimulates its own release from internal stores and whether inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DG) also undergo oscillations linked to the Ca2+ spikes. In this study, Ca2+ was found to stimulate its own release in REF52 fibroblasts primed by mitogens plus depolarization. However, unlike Ca2+ release in muscle and nerve cells, this amplification was insensitive to caffeine or ryanodine and required hormone receptor occupancy and functional IP3 receptors. Oscillations in [Ca2+]i were accompanied by oscillations in IP3 concentration but did not require functional protein kinase C. Therefore, the dominant feedback mechanism in this cell type appears to be Ca2+ stimulation of phospholipase C once this enzyme has been activated by hormone receptors.  相似文献   
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A group of buffaloes aborted at the third trimester of their gestational period. Yersinia enterocolitica was isolated from all cases. All aborted animal sera had high antibody titres against Y. enterocolitica antigen which crossreacted significantly with Brucella abortus antigen. All animals were culturally negative after intrauterine infusion of gentamycin sulphate (160 mg/day) for three consecutive days.  相似文献   
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This paper assesses the implementation of four selected IWRM principles in four very different river basins in Europe and Asia. The four principles relate to all the different aspects of sustainable development—environmental, social, economic and institutional—as well as the factor that is particularly crucial in many countries of the South: implementation capacity. The paper is based on the work performed in the EC-funded STRIVER project, “Strategy and methodology for improved IWRM—An integrated interdisciplinary assessment in four twinning river basins”. The four basins—Tungabhadra and Sesan (in Asia), and Tagus and Glomma (in Europe) exemplify very different problems and challenges with regard to IWRM: different levels of socio-economic development and very varying problems with regard to water quality and availability. The paper shows that the implementation of IWRM is at a fairly early stage in all the four STRIVER basins; and that successful implementation of water resources is dependent not only on the existence of relevant policies, but also the degree to which laws and policies are in fact implemented.  相似文献   
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Tropical Animal Health and Production - Recurrent infectious bursal disease (IBD) outbreaks were reported in different regions of Kerala, India. This paper reports the comparative genetic analysis...  相似文献   
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Here we describe a functional magnetic resonance imaging study of humans engaged in memory search during a free recall task. Patterns of cortical activity associated with the study of three categories of pictures (faces, locations, and objects) were identified by a pattern-classification algorithm. The algorithm was used to track the reappearance of these activity patterns during the recall period. The reappearance of a given category's activity pattern correlates with verbal recalls made from that category and precedes the recall event by several seconds. This result is consistent with the hypothesis that category-specific activity is cueing the memory system to retrieve studied items.  相似文献   
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