High rate of autonomic neuropathy in Cornelia de Lange Syndrome

Background: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. Method: Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. Results: Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. Conclusions: Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging

Stream food web response to a salmon carcass analogue addition in two central Idaho, U.S.A. streams

Pacific salmon and steelhead once contributed large amounts of marine-derived carbon, nitrogen and phosphorus to freshwater ecosystems in the Pacific Northwest of the United States of America (California, Oregon, Washington and Idaho). Declines in historically abundant anadromous salmonid populations represent a significant loss of returning nutrients across a large spatial scale. Recently, a manufactured salmon carcass analogue was developed and tested as a safe and effective method of delivering nutrients to freshwater and linked riparian ecosystems where marine-derived nutrients have been reduced or eliminated.We compared four streams: two reference and two treatment streams using salmon carcass analogue(s) (SCA) as a treatment. Response variables measured included: surface streamwater chemistry; nutrient limitation status; carbon and nitrogen stable isotopes; periphyton chlorophyll a and ash-free dry mass (AFDM); macroinvertebrate density and biomass; and leaf litter decomposition rates. Within each stream, upstream reference and downstream treatment reaches were sampled 1 year before, during, and 1 year after the addition of SCA.Periphyton chlorophyll a and AFDM and macroinvertebrate biomass were significantly higher in stream reaches treated with SCA. Enriched stable isotope (δ15N) signatures were observed in periphyton and macroinvertebrate samples collected from treatment reaches in both treatment streams, indicating trophic transfer from SCA to consumers. Densities of Ephemerellidae, Elmidae and Brachycentridae were significantly higher in treatment reaches. Macroinvertebrate community composition and structure, as measured by taxonomic richness and diversity, did not appear to respond significantly to SCA treatment. Leaf breakdown rates were variable among treatment streams: significantly higher in one stream treatment reach but not the other. Salmon carcass analogue treatments had no detectable effect on measured water chemistry variables.Our results suggest that SCA addition successfully increased periphyton and macroinvertebrate biomass with no detectable response in streamwater nutrient concentrations. Correspondingly, no change in nutrient limitation status was detected based on dissolved inorganic nitrogen to soluble reactive phosphorus ratios (DIN/SRP) and nutrient-diffusing substrata experiments. Salmon carcass analogues appear to increase freshwater productivity.Salmon carcass analogues represent a pathogen-free nutrient enhancement tool that mimics natural trophic transfer pathways, can be manufactured using recycled fish products, and is easily transported; however, salmon carcass analogues should not be viewed as a replacement for naturally spawning salmon and the important ecological processes they provide

Investigating the role of customers’ perceptions of employee effort and justice in service recovery

Purpose: The purpose of this paper is, first, to identify the relationship, if any, between customers’ perceptions of justice (functional element) and employee effort (symbolic element) and their effects on satisfaction and loyalty in the context of service recovery and, second, to determine the impact of cross-cultural differences on these relationships. Design/methodology/approach: Survey data from actual customers were gathered in three countries (n = 414) and analyzed using structural equation modeling to test the proposed hypotheses. Findings: The results demonstrate the role of the constructs of perceived employee effort and perceived justice in influencing post-recovery satisfaction and loyalty across cultures. While perceived justice is valued across cultures, customers from feminine (masculine) cultures require more (less) employee effort to influence post-recovery satisfaction positively. Customers from low (high) uncertainty cultures are more (less) willing to give the provider another chance after a service recovery. Research limitations/implications: The study shows that both functional and symbolic elements of service recovery are important determinants of customer satisfaction and loyalty and that their influence can be significant in a cross-cultural context. Practical implications: International service managers must consider the nature of cultural differences in their markets to develop and implement tailored recovery strategies that can result in satisfied customers. Originality/value: This study is the first to integrate the functional and symbolic elements of service recovery, their impact on customers’ behavioral responses and the influence of cultural variations

local buzz, global pipelines and the process of knowledge creation

The version of record [Bathelt, H., Malmberg, A., & Maskell, P. (2004). Clusters and knowledge: Local buzz, global pipelines and the process of knowledge creation. Progress in Human Geography, 28(1), 31-56.] is available online at: http://phg.sagepub.com/content/28/1/31 [doi: 10.1191/0309132504ph469oa]The paper is concerned with spatial clustering of economic activity and its relation to the spatiality of knowledge creation in interactive learning processes. It questions the view that tacit knowledge transfer is confined to local milieus whereas codified knowledge may roam the globe almost frictionlessly. The paper highlights the conditions under which both tacit and codified knowledge can be exchanged locally and globally. A distinction is made between, on the one hand, the learning processes taking place among actors embedded in a community by just being there dubbed buzz and, on the other, the knowledge attained by investing in building channels of communication called pipelines to selected providers located outside the local milieu. It is argued that the co-existence of high levels of buzz and many pipelines may provide firms located in outward-looking and lively clusters with a string of particular advantages not available to outsiders. Finally, some policy implications, stemming from this argument, are identified

GABA and Glutamate in Children with Primary Complex Motor Stereotypies: An 1

BACKGROUND AND PURPOSE: Complex motor stereotypies are rhythmic, repetitive, fixed, purposeful but purposeless movements that stop with distraction. They can occur in otherwise normal healthy children (primary stereotypies) as well in those with autism spectrum disorders (secondary stereotypies). The underlying neurobiologic basis for these movements is unknown but is thought to involve cortical-striatal-thalamo-cortical pathways. To further clarify potential neurochemical alterations, gamma-aminobutyric acid (GABA), glutamate, glutamine, N-acetylaspartate, and choline levels were measured in 4 frontostriatal regions by using 1H MRS at 7T. MATERIALS AND METHODS: A total of 18 children with primary complex motor stereotypies and 24 typically developing controls, ages 5–10 years, completed MR spectroscopy at 7T. Single voxel STEAM acquisitions from the anterior cingulate cortex, premotor cortex, dorsolateral prefrontal cortex, and striatum were obtained, and metabolites were quantified with respect to Cr by using LCModel. RESULTS: The 7T scan was well tolerated by all the participants. Compared with the controls, children with complex motor stereotypies had lower levels of GABA in the anterior cingulate cortex (GABA/Cr, P = .049; GABA/Glu, P = .051) and striatum (GABA/Cr, P = .028; GABA/Glu, P = .0037) but not the dorsolateral prefrontal cortex or the premotor cortex. Glutamate, glutamine, NAA, and Cho levels did not differ between groups in any of the aforementioned regions. Within the complex motor stereotypies group, reduced GABA to Cr in the anterior cingulate cortex was significantly associated with greater severity of motor stereotypies (r = −0.59, P = .021). CONCLUSIONS: These results indicate possible GABAergic dysfunction within corticostriatal pathways in children with primary complex motor stereotypies.Othe

Phylogenetic analysis of aerobic freshwater and marine enrichment cultures efficient in hydrocarbon degradation: effect of profiling method

Aerobically grown enrichment cultures derived from hydrocarbon- contaminated seawater and freshwater sediments were generated by growth on crude oil as sole carbon source. Both cultures displayed a high rate of degradation for a wide range of hydrocarbon compounds. The bacterial species composition of these cultures was investigated by PCR of the 16S rDNA gene using multiple primer combinations. Near full-length 16S rDNA clone libraries were generated and screened by restriction analysis prior to sequence analysis. Polymerase chain reaction- denaturing gradient gel electrophoresis (PCR-DGGE) was carried out using two other PCR primer sets targeting either the V3 or V6-V8 regions, and sequences derived from prominent DGGE bands were compared to sequences obtained via cloning. All data sets suggested that the seawater culture was dominated by alpha- subgroup proteobacteria, whereas the freshwater culture was dominated by members of the beta- and gamma-proteobacteria. However, the V6-V8 primer pair was deficient in the recovery of Sphingomonas-like 16S rDNA due to a 3' terminal mismatch with the reverse primer. Most 16S rDNA sequences recovered from the marine enrichment were not closely related to genera containing known oil-degrading organisms, although some were detected. All methods suggested that the freshwater enrichment was dominated by genera containing known hydrocarbon-degrading species. [KEYWORDS: enrichment cultures; DGGE; hydrocarbon degradation; polymerase chain reaction; phylogenetic analysis; 16S rDNA 16s ribosomal-rna; gradient gel-electrophoresis; degrading bacteria; microbial-populations; genus sphingomonas; activated-sludge; ecology; diversity; database; probes]