Behavioral profile of adults with Prader-Willi syndrome : correlations with individual and environmental variables

Background: Maladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different factors have been linked with the intensity and form of these behavioral disturbances but there is no consensus about the cause. Consequently, there is still controversy regarding management strategies and there is a need for new data. Methods: The behavior of 100 adults with PWS attending a dedicated center was assessed using the Developmental Behavior Checklist for Adults (DBC-A) and the PWS-specific Hyperphagia Questionnaire. The DBC-A was completed separately by trained caregivers at the center and relatives or caregivers in a natural setting. Genotype, gender, age, degree of obesity and cognitive impairment were analyzed as variables with a hypothetical influence on behavioral features. Results: Patients showed a relatively high rate of behavioral disturbances other than hyperphagia. Disruptive and social relating were the highest scoring DBC-A subscales whereas anxiety/antisocial and self-absorbed were the lowest. When hospital caregiver and natural caregiver scores were compared, scores for the latter were higher for all subscales except for disruptive and anxiety/antisocial. These effects of institutional management were underlined. In the DBC-A, 22 items have descriptive indications of PWS behavior and were used for further comparisons and correlation analysis. In contrast to previous reports, rates of disturbed behavior were lower in patients with a deletion genotype. However, the behavioral profile was similar for both genotypes. No differences were found in any measurement when comparing type I and type II deletions. The other analyzed variables showed little relevance. Conclusions: Significant rates of behavioral disorders were highlighted and their typology described in a large cohort of adults with PWS. The deletion genotype was related to a lower severity of symptoms. Some major behavioral problems, such as hyperphagia, may be well controlled if living circumstances are adapted to the specific requirements of individuals with PWS.

Temperature and composition profile during double-track laser cladding of H13 tool steel

Multi-track laser cladding is now applied commercially in a range of industries such as automotive, mining and aerospace due to its diversified potential for material processing. The knowledge of temperature, velocity and composition distribution history is essential for a better understanding of the process and subsequent microstructure evolution and properties. Numerical simulation not only helps to understand the complex physical phenomena and underlying principles involved in this process, but it can also be used in the process prediction and system control. The double-track coaxial laser cladding with H13 tool steel powder injection is simulated using a comprehensive three-dimensional model, based on the mass, momentum, energy conservation and solute transport equation. Some important physical phenomena, such as heat transfer, phase changes, mass addition and fluid flow, are taken into account in the calculation. The physical properties for a mixture of solid and liquid phase are defined by treating it as a continuum media. The velocity of the laser beam during the transition between two tracks is considered. The evolution of temperature and composition of different monitoring locations is simulated.

Single cell proteomics microchip to profile immune function, with applications in stem cell biology, translational disease mechanism study and clinical therapeutics monitoring

In response to infection or tissue dysfunction, immune cells develop into highly heterogeneous repertoires with diverse functions. Capturing the full spectrum of these functions requires analysis of large numbers of effector molecules from single cells. However, currently only 3-5 functional proteins can be measured from single cells. We developed a single cell functional proteomics approach that integrates a microchip platform with multiplex cell purification. This approach can quantitate 20 proteins from >5,000 phenotypically pure single cells simultaneously. With a 1-million fold miniaturization, the system can detect down to ~100 molecules and requires only ~104 cells. Single cell functional proteomic analysis finds broad applications in basic, translational and clinical studies. In the three studies conducted, it yielded critical insights for understanding clinical cancer immunotherapy, inflammatory bowel disease (IBD) mechanism and hematopoietic stem cell (HSC) biology.

To study phenotypically defined cell populations, single cell barcode microchips were coupled with upstream multiplex cell purification based on up to 11 parameters. Statistical algorithms were developed to process and model the high dimensional readouts. This analysis evaluates rare cells and is versatile for various cells and proteins. (1) We conducted an immune monitoring study of a phase 2 cancer cellular immunotherapy clinical trial that used T-cell receptor (TCR) transgenic T cells as major therapeutics to treat metastatic melanoma. We evaluated the functional proteome of 4 antigen-specific, phenotypically defined T cell populations from peripheral blood of 3 patients across 8 time points. (2) Natural killer (NK) cells can play a protective role in chronic inflammation and their surface receptor – killer immunoglobulin-like receptor (KIR) – has been identified as a risk factor of IBD. We compared the functional behavior of NK cells that had differential KIR expressions. These NK cells were retrieved from the blood of 12 patients with different genetic backgrounds. (3) HSCs are the progenitors of immune cells and are thought to have no immediate functional capacity against pathogen. However, recent studies identified expression of Toll-like receptors (TLRs) on HSCs. We studied the functional capacity of HSCs upon TLR activation. The comparison of HSCs from wild-type mice against those from genetics knock-out mouse models elucidates the responding signaling pathway.

In all three cases, we observed profound functional heterogeneity within phenotypically defined cells. Polyfunctional cells that conduct multiple functions also produce those proteins in large amounts. They dominate the immune response. In the cancer immunotherapy, the strong cytotoxic and antitumor functions from transgenic TCR T cells contributed to a ~30% tumor reduction immediately after the therapy. However, this infused immune response disappeared within 2-3 weeks. Later on, some patients gained a second antitumor response, consisted of the emergence of endogenous antitumor cytotoxic T cells and their production of multiple antitumor functions. These patients showed more effective long-term tumor control. In the IBD mechanism study, we noticed that, compared with others, NK cells expressing KIR2DL3 receptor secreted a large array of effector proteins, such as TNF-α, CCLs and CXCLs. The functions from these cells regulated disease-contributing cells and protected host tissues. Their existence correlated with IBD disease susceptibility. In the HSC study, the HSCs exhibited functional capacity by producing TNF-α, IL-6 and GM-CSF. TLR stimulation activated the NF-κB signaling in HSCs. Single cell functional proteome contains rich information that is independent from the genome and transcriptome. In all three cases, functional proteomic evaluation uncovered critical biological insights that would not be resolved otherwise. The integrated single cell functional proteomic analysis constructed a detail kinetic picture of the immune response that took place during the clinical cancer immunotherapy. It revealed concrete functional evidence that connected genetics to IBD disease susceptibility. Further, it provided predictors that correlated with clinical responses and pathogenic outcomes.

How do we raise the profile of ponds?

This article arises from the 1998 Ponds Conference organised by Pond Action. A workshop entitled "How do we raise the profile of ponds?" was held on the first evening of the conference, taking the form of three syndicate groups each tackling one of the following three issues: How to get volunteers and the community involved with ponds; raising the profile of ponds within the government sector; and raising the profile of ponds with scientists. It is clear that, as scientists, our understanding of ponds is not great. However, some progress has been made in understanding the rare species that are likely to occur in them. A great deal more scientific research is required to understand the nature, diversity, distribution, formative processes and wise management options for ponds. However, perhaps of equal or even greater importance is the need for scientists and pond managers to understand the broader values that people across society hold about ponds.

Profile soundings in lakes of the younger morainal area of Sleswick-Holstein with a sediment-echo-sounder of 30 kHz [Translation from: Wass.Boden 26, 135-138, 1974]

To be able to carry out physical, chemical and biological investigations on a lake, one needs a thorough knowledge of the volume of water and the shape of the lake basin. Little is known about the about the morphology of the lakes in Schleswig-Holstein and its ecological consequences. For this research a 30 KHz echo sounder with sediment transceiver was used to carry out profile determinations (echo soundings). This apparatus continuously records on paper the different reflexions and absorptions of the sediment and water body in the corresponding depth. By this, acoustically noticeable layers and different densities in the sediment and 'scattering layers' in the water body due to physical, chemical and biological reasons (e.g. plans and single fish) are made visible. Result are summarised here regarding the echo soundings in Blunker See.

Pure-phase plates for super-Gaussian focal-plane irradiance profile generations of extremely high order

A set of recursive formulas for diffractive optical plates design is described. The pure-phase plates simulated by this method homogeneously concentrate more than 96% of the incident laser energy in the desired focal-plane region. The intensity focal-plane profile fits a lath-order super-Gaussian function and has a nearly perfect flat top. Its fit to the required profile measured in the mean square error is 3.576 x 10(-3). (C) 1996 Optical Society of America

Complexity and Uniqueness of the Aromatic Profile of Smoked and Unsmoked Herreno Cheese

In this work, the volatile fraction of unsmoked and smoked Herreno cheese, a type of soft cheese from the Canary Islands, has been characterized for the first time. In order to evaluate if the position in the smokehouse could influence the volatile profile of the smoked variety, cheeses smoked at two different heights were studied. The volatile components were extracted by Solid Phase Microextraction using a divinylbenzene/carboxen/polydimethylsiloxane fiber, followed by Gas Chromatography/Mass Spectrometry. In total, 228 components were detected. The most numerous groups of components in the unsmoked Herreno cheese were hydrocarbons, followed by terpenes and sesquiterpenes, whereas acids and ketones were the most abundant. It is worth noticing the high number of aldehydes and ketones, and the low number of alcohols and esters in this cheese in relation to others, as well as the presence of some specific unsaturated hydrocarbons, terpenes, sesquiterpenes and nitrogenated derivatives. The smoking process enriches the volatile profile of Herreno cheese with ketones and diketones, methyl esters, aliphatic and aromatic aldehydes, hydrocarbons, terpenes, nitrogenated compounds, and especially with ethers and phenolic derivatives. Among these, methylindanones or certain terpenes like a-terpinolene, have not been detected previously in other types of smoked cheese. Lastly, the results obtained suggest a slightly higher smoking degree in the cheeses smoked at a greater height.

Linefish resources annual report for the year 2000. Part 2: species profile

This work refers to the same biological aspects of Chrysoblephus puniceus (marreco), Polysteganus coeruleopunctatus (cachucho) and Cheimerus nufar (robalo). It shows the progress in the biological study of the three species, pointing out at the same time the few discrepancies, which still need to be resolved.

Changes in body composition and fatty acid profile during embryogenesis of quillback rockfish (Sebastes maliger)

We investigated developmental changes in the body compositions and fatty acid (FA) profiles of embryos and preparturition larvae of the quillback rockfish (Sebastes maliger). Comparisons of proximate composition data from early-stage embryos with data from hatched preparturition larvae taken from wild-caught gravid females indicated that embryos gain over one-third their weight in moisture while consuming 20% of their dry tissue mass for energy as they develop into larvae. Lipid contributed 60% of the energy consumed and was depleted more rapidly than protein, indicating a protein-sparing effect. Oil globule volume was strongly correlated with lipid levels, affirming its utility as an indicator of energetic status. FA profiles of early embryos differed significantly from those of hatched larvae. Differences in the relative abundances of FAs between early embryos and hatched larvae indicated different FA depletion rates during embryonic development. We conclude that some metabolically important FAs may prove useful in assessing the condition of embryos and preparturition larvae, particularly 20:4n-6, which cannot be synthesized by many marine fish and which is conserved during embryogenesis. Variability in body composition and energy use among rockfish species should be considered when interpreting any measures of condition.

The ecology of Atlantic white cedar wetlands: a community profile

This monograph on the ecology of Atlantic white cedar wetlands is one of a series of U.S. Fish and Wildlife Service profiles of important freshwater wetland ecosystems of the United States. The purpose of the profile is to describe the extent, components, functioning, history, and treatment of these wetlands. It is intended to provide a useful reference to relevant scientific information and a synthesis of the available literature. The world range of Atlantic white cedar (Chamaecyparis thyoides) is limited to a ribbon of freshwater wetlands within 200 km of the Atlantic and Gulf coasts of the United States, extending from mid-Maine to mid-Florida and Mississippi. Often in inaccessible sites and difficult to traverse, cedar wetlands contain distinctive suites of plant species. Highly valued as commercial timber since the early days of European colonization of the continent, the cedar and its habitat are rapidly disappearing. This profile describes the Atlantic white cedar and the bogs and swamps it dominates or codominates throughout its range, discussing interrelationships with other habitats, putative origins and migration patterns, substrate biogeochemistry, associated plant and animal species (with attention to those that are rare, endangered, or threatened regionally or nationally), and impacts of both natural and anthropogenic disturbance. Research needs for each area are outlined. Chapters are devoted to the practices and problems of harvest and management, and to an examination of a large preserve recently acquired by the USFWS, the Alligator River National Wildlife Refuge in North Carolina.

FishBase species profile: Clarias gariepinus (Burchell, 1822) North African catfish

In this issue NAGA introduces a new page on profiles of fish species. This page will be a permanent feature of the NAGA and will be based on information derived from FishBase (http://www.fishbase.org), the world’s premier information system on fishes and a global public good. FishBase is being developed by the WorldFish Center and an International Consortium. The first species selected is the North African catfish Clarias gariepinus, one of the most important freshwater fish species in Africa. It has been chosen in honor of Prof Dr Guy Teugels of the Musée Royal de l’Afrique Centrale (MRAC) of Tervuren, Belgium, who recently passed away and who spent many years investigating this species.