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The dopamine transporter gene,SLC6A3, has received substantial attention in genetic association studies of various phenotypes. Although some variable number tandem repeats (VNTRs) present inSLC6A3have been tested in genetic association studies, results have not been consistent. VNTRs inSLC6A3that have not been examined genetically were characterized. Tandem Repeat Annotation Library (TRAL) was used to characterize the VNTRs of 64 unrelated long-read haplotype-phasedSLC6A3sequences. Sequence similarity of each repeat unit of the five VNTRs is reported, along with the correlations of SNP-SNP, SNP-VNTR and VNTR-VNTR alleles across the gene. One of these VNTRs is a novel hyper-VNTR (hyVNTR) in intron 8 ofSLC6A3, which contains a range of 3.4-133.4 repeat copies and has a consensus sequence length of 38bp, with 82% G+C content. The 38-base repeat was predicted to form G-quadruplexesin silicoand was confirmed by circular dichroism spectroscopy. Additionally, this hyVNTR contains multiple putative binding sites for PRDM9, which, in combination with low levels of linkage disequilibrium around the hyVNTR, suggests it might be a recombination hotspot.Summary BlurbThis VNTR has a heterozygosity value of 0.93, forms G-tetrads, and is in low linkage disequilibrium with surrounding sequence, making it a new site for genetic analysis.

The dopamine transporter gene,SLC6A3, has received substantial attention in genetic association studies of various phenotypes. Although some variable number tandem repeats (VNTRs) present inSLC6A3have been tested in genetic association studies, results have not been consistent. VNTRs inSLC6A3that have not been examined genetically were characterized. The Tandem Repeat Annotation Library was used to characterize the VNTRs of 64 unrelated long-read haplotype-phasedSLC6A3sequences. Sequence similarity of each repeat unit of the five VNTRs is reported, along with the correlations of SNP–SNP, SNP–VNTR, and VNTR–VNTR alleles across the gene. One of these VNTRs is a novel hyper-VNTR (hyVNTR) in intron 8 ofSLC6A3, which contains a range of 3.4–133.4 repeat copies and has a consensus sequence length of 38 bp, with 82% G+C content. The 38-base repeat was predicted to form G-quadruplexes in silico and was confirmed by circular dichroism spectroscopy. In addition, this hyVNTR contains multiple putative binding sites for PRDM9, which, in combination with low levels of linkage disequilibrium around the hyVNTR, suggests it might be a recombination hotspot.

As reported in the literature, benzopyrones (alpha and gamma) have important effects on the microcirculation through various mechanisms. Coumarins are an alpha-benzopyrone as derivatives of Melilotus Officinalis, while bioflavonoids are a gamma-benzopyrone and include Rutin. Alpha-benzopyrones have two fundamental pharmacological effects: they have pro-lymphokinetic action by activating contractility of lymphangions; and the activation of macrophages to provide a proteolytic effect. Gamma-benzopyrones, such as Rutin, have an important anti-exuding and membrane stabilizing effect. Bromelain is known for its anti-inflammatory effect. The present study enrolled 52 patients with primary and/or secondary lymphedema in clinical stages I or II (according to the ISL classification) with 31 cases involving the lower limbs and 21 cases involving the upper limbs. All subjects were given for six months a natural compound consisting of 100 mg of natural Melilotus, that contains 20 grams of Coumarin, 300 mg of Rutin and 100 mg of Bromelain. The following parameters were studied at zero time (T0), after three months (T1), and after six months of treatment (T2): pitting, Stemmer's sign, measurement of limb circumferences, measurement of superficial tissue thickness in the affected limbs using ultrasound, and blood tests to evaluate hepatic function (ALT, AST, GGT, total and fractional bilirubin). At the end of the treatment (T2), the following results were observed: disappearance of pitting in 72% of the cases; unchanged Stemmer's sign; average decrease in limb circumferences of 4.2 cm; and average reduction of the superficial thickness of 29%. There was no variation in the liver function parameters examined. The combination of natural compounds (Melilotus, Rutin, and Bromelain) has been shown to be a valuable aid in the clinical control of both primary and secondary lymphedema of clinical stages I and II as well as in control of inflammatory phenomena related to chronic stasis. There were no side effects and no alteration of liver function parameters found.

Emberger syndrome, or primary lymphedema with myelodysplasia, is a severe rare disease characterized by early primary lymphedema and blood anomalies including acute childhood leukemia. The syndrome is associated with heterozygous mutations in the GATA2 gene. We report on a 13-year-old boy who developed lymphedema of the right lower limb at age 6 years which was accompanied by severe panleukopenia and repeated episodes of erysipelas. The suspicion of Emberger syndrome was confirmed by detection of a new germinal line GATA2 mutation c.414_417del, p.Ser139Cysfs*78. Clinical treatment included a bone marrow transplant from the father.This case is one of a very limited number of Emberger syndrome cases documented in the literature, and genetic testing proved fundamental for definition of the condition and its association with a de novo mutation in the GATA2 which is reported here for the first time.

COSMO-SkyMed di Seconda generazione (CSG) Ground Segment is based on an interoperable and multi-mission design, allowing the exhibition of CSG services to external partners and the access through CSG to services belonging to other Earth Observation partners. Moreover CSG Ground Segment design allows supporting the cooperation by expansion through replication of UGS instances according to different access options. This way, the CSG GS will be able to manage Earth Observation Foreign Missions by enabling centralized and multi-mission access in an integrated environment, offering very valuable technological solutions to the Defense and Civilian communities. This paper provides a thorough description of the CSG system access portfolio.

COSMO-SkyMed di Seconda Generazione (CSG) is an Earth Observation joint programme of the Italian Space Agency (ASI) and the Italian Ministry of Defense (It-MoD) that will guarantee long term activities and continuity of the COSMO-SkyMed first generation program.

OBJECTIVE: To assess the role of television as tool for childhood obesity prevention. METHOD:Review of the available literature about the relationship between television and childhood obesity, eating habits and body shape perception. RESULTS: The reviewed studies showed the following: television watching replaces more vigorous activities; there is a positive correlation between time spent watching television and being overweight or obese on populations of different age; obesity prevalence has increased as well as the number of hours that TV networks dedicate to children; during the last 30 y, the rate of children watching television for more than 4 h per day seems to have increased; children are exposed to a large number of important unhealthy stimulations in terms of food intake when watching television; over the last few years, the number of television food commercials targeting children have increased especially when it comes to junk food in all of its forms; the present use of food in movies, shows and cartoons may lead to a misconception of the notion of healthy nutrition and stimulate an excessive intake of poor nutritional food; and obese subjects shown in television programmes are in a much lower percentage than in real life and are depicted as being unattractive, unsuccessful and ridiculous or with other negative traits and this is likely to result in a worsening of the isolation in which obese subjects are often forced. The different European countries have different TV legislations. CONCLUSION: The usual depiction of food and obesity in television has many documented negative consequences on food habits and patterns. The different national regulations on programs and advertising directed to children could have a role in the different prevalence of childhood obesity in different European countries. Television could be a convenient tool to spread correct information on good nutrition and obesity prevention.

The phlebolymphedema of the limbs is a disorder with frequent occurrence in its various forms, which by its very nature tends to worsen and has a tendency to complications and clinical exacerbation.

Data from personal case histories, from 1984 to 2000 inclusive, are reported in order to contribute to a better understanding of some of the clinical and epidemiological ENT associated TB aspects. Analysis of these data shows that: 1. Like the pulmonary form, ENT localizations are increasing due to the traditional risk factors (immigration, poverty, immunodeficiency, drug addiction). 2. They are generally clinically primitive forms (which are found in extrapulmonary regions as the first expression of tubercular disease) and typically affect young people with a slight prevalence among females. Lymph gland localizations are the most frequent.

Primary lymphedema is characterized by altered morphological development of lymphatic vessels causing fluid accumulation in interstitial spaces. In familial forms, it is primarily transmitted as a dominant Mendelian trait with heterozygous mutations in genes involved in lymphangiogenesis. We used PCR and direct sequencing to analyze the region of the fms-related tyrosine kinase 4 (FLT4) gene encoding the "tyrosine-kinase domain" and the single exon of the forkhead box C2 (FOXC2) gene in 46 Italian probands with primary lymphedema, 42 of whom had familial forms. We identified 12 mutations in 12 patients (12/46, 26%), six in the FLT4 gene and six in the FOXC2 gene. Most of the mutations (9/12, 75%) were new, and none were identified in 100 healthy subjects or listed in the NCBI dbSNP. A clear relation emerged between genotype and phenotype because 4/5 (80%) probands with onset at birth showed FLT4 mutations and 4/5 (80%) probands without distichiasis and with FOXC2 mutations had an amino-acid substitution outside the forkhead domain. Besides the allelic heterogeneity shown by unique mutations in each proband, the absence of mutations in almost 75% of familial cases of primary lymphedema also suggests genetic heterogeneity.

Background The lymphedema is particularly common in the geriatric age. Physical treatment in primary and secondary lymphedema is basilar. It is more important to address the proper tailored treatment than it is to define the kind of patient [1,2].

The S056 solar X-ray telescope, a paraboloidal-hyperboloidal Wolter type I instrument, was used in the Skylab solar observatory to photograph the sun in various soft X-ray wavelength bands. It is necessary to know how the energy throughput of the telescope varies as a function of off-axis angle at various wavelengths in order to compare the relative intensities of solar X-ray emission from various areas of the sun captured on the same photographic frame.

Development of new materials is needed for numerous applications in engineering, medical, and scientific arenas. In this chapter, we describe some of our research efforts that focus on developing strategies and tools for high throughput production and screening to create advanced biomaterials and chemical sensors. Using our developed tools, we are able to produce and screen a wide array of materials in a short period of time. In several current embodiments, the system can readily produce and fully screen 100–1,000 samples/day. Our developed automated systems can provide results with minimal user input, yet with better precision and accuracy in comparison to traditional manual methods.

DNA damage activates several mechanisms such as DNA repair and cell cycle checkpoints. The Saccharomyces cerevisiae heterotrimeric checkpoint clamp consisting of the Rad17, Mec3 and Ddc1 subunits is an early response factor to DNA damage and activates checkpoints. This complex is structurally similar to the proliferating cell nuclear antigen (PCNA), which serves as a sliding clamp platform for DNA replication. Growing evidence suggests that PCNA-like complexes play a major role in DNA repair as they have been shown to interact with and stimulate several proteins, including specialized DNA polymerases. With the aim of extending our knowledge concerning the link between checkpoint activation and DNA repair, we tested the possibility of a functional interaction between the Rad17/Mec3/Ddc1 complex and the replicative DNA polymerases alpha, delta and epsilon. The analysis of sensitivity response of single and double mutants to UVC and 8-MOP + UVA-induced DNA damage suggests that the PCNA-like component Mec3p of S. cerevisiae neither relies on nor competes with the third subunit of DNA polymerase delta, Pol32p, for lesion removal. No enhanced sensitivity was observed when inactivating components of DNA polymerases alpha and epsilon in the absence of Mec3p. The hypersensitivity of pol32Delta to photoactivated 8-MOP suggests that the replicative DNA polymerase delta also participates in the repair of mono- and bi-functional DNA adducts. Repair of UVC and 8-MOP + UVA-induced DNA damage via polymerase delta thus occurs independent of the Rad17/Mec3/Ddc1 checkpoint clamp.

The frequency of early-onset neonatal sepsis without prophylaxis is 1-5/1.000 live births. Since year '70 the most frequent causative microorganism is the group B Streptococcus (S. agalactiae, GBS), followed by Escherichia coli. The mortality rate is now reduced to 4% due to the improvement of neonatal intensive care. In the USA, the incidence of GBS early-onset neonatal sepsis has been markedly reduced by the application of the guidelines released by the Centers for Disease Control (CDC). This strategy, however, is not effective on occurrence of late-onset neonatal group B streptococcal disease. In Italy, the application of CDC guidelines is not customary, and different, often complex, protocols of obstetrical-neonatological integrated approach are applied. The frequency of infectious risk has made the GBS a paramount problem for the neonatologist, even for the legal responsibility issues resulting from the multiplicity of possible options. To reach the best level of protection of the newborn against early-onset GBS infection, the working group of providers of prenatal, obstetric, and neonatal care of the functional area of Cuneo issued an integrated protocol, in order to perform the GBS screening with the optimal culture method suggested by CDC guidelines in the highest possible number of pregnant women, and to standardize the obstetrical and neonatal management.

This overview paper describes the system design of the structurally-connected interferometer (SCI) concept studied for the Terrestrial Planet Finder (TPF) project. This paper covers progress since August 2003 and serves as an update to a paper presented at that month's SPIE conference, "Techniques and Instrumentation for Detection of Exoplanets". SCI trade studies conducted since mid-2003 have focused on key factors driving overall flight segment mass and performance, including launch vehicle packaging, structural design, and instrument layout. This paper summarizes the results of the recent design trades, with discussion of the primary requirements that drive the baseline design concept.

This paper describes the basic structural design of the Terrestrial Planet Finder (TPF) Structurally Connected Interferometer concept developed within the Jet Propulsion Laboratory design team. Descriptions of the key structural components, optical elements, and basic load paths are included. Key structural requirements related to launch loads and on-orbit stability and alignment are identified. The analysis results for the baseline design are shown for both launch configuration and the deployed, on-orbit configuration. The finite element models are described with preliminary results shown. Excitation of the structure and the optical train caused by assumed external disturbances are shown for a preliminary analysis. Future work is identified.

Based on technologies developed for the Jet Propulsion Laboratory (JPL) Free-Flying-Magnetometer (FFM) concept, we propose to modify the present design of FFMs for detection of mines and arsenals with large magnetic signature. The result will be an integrated miniature sensor system capable of identifying local magnetic field anomaly caused by a magnetic dipole moment. Proposed integrated sensor system is in line with the JPL technology road-map for development of autonomous, intelligent, networked, integrated systems with a broad range of applications. In addition, advanced sensitive magnetic sensors (e.g., silicon micromachined magnetometer, laser pumped helium magnetometer) are being developed for future NASA space plasma probes. It is envisioned that a fleet of these Integrated Sensor Systems (ISS) units will be dispersed on a mine-field via an aerial vehicle (a low-flying airplane or helicopter). The number of such sensor systems in each fleet and the corresponding in-situ probe-grid cell size is based on the strength of magnetic anomaly of the target and ISS measurement resolution of magnetic field vector. After a specified time, ISS units will transmit the measured magnetic field and attitude data to an air-borne platform for further data processing. The cycle of data acquisition and transmission will be continued until batteries run out. Data analysis will allow a local deformation of the Earth's magnetic field vector by a magnetic dipole moment to be detected. Each ISS unit consists of miniaturized sensitive 3- axis magnetometer, high resolution analog-to-digital converter (ADC), Field Programmable Gate Array (FPGA)-based data subsystem, Li-batteries and power regulation circuitry, memory, S-band transmitter, single-patch antenna, and a sun angle sensor. ISS unit is packaged with non-magnetic components and the electronic design implements low-magnetic signature circuits. Care is undertaken to guarantee no corruption of magnetometer sensitivity as a result of its close proximity with the electronics and packaging materials. Accurate calibration of the magnetometer response in advance will allow removing the effects of unwanted disturbances. Improvements of the magnetometer performance in the areas of the orthogonality, drift, and temperature coefficient of offset and scale factor are required.

Immunocytochemical studies have shown that gel-forming glycoproteins (mucins) and the bacteriolytic protein lysozyme are selectively expressed in airway mucous and serous cells, respectively. The mechanisms mediating this selectivity are unknown. In this study, we localized mucin and lysozyme mRNA by in situ hybridization to investigate the possibility that phenotype-specific expression of these proteins is controlled at the level of mRNA. Radiolabelled sense and antisense probes were constructed from the human tracheal mucin cDNA, HAM1 (MUC2 gene), the human small intestinal mucin cDNA, SIB139 (MUC3 gene), and the bovine tracheal lysozyme cDNA, Lys 7a. Frozen sections of human bronchus were hybridized with these probes and washed under routine conditions. Autoradiography showed that although lysozyme mRNA was strictly limited to cells expressing lysozyme, mucin mRNA was present both in mucin-expressing and mucin-non-expressing epithelial cells. This suggests that the restriction of lysozyme to serous cells is controlled at the level of mRNA (synthesis and/or degradation), whereas the restriction of mucin to mucous cells is controlled at the level of translation.

Background The radial shockwaves are pneumatically generated and emitted at the tip of the applicator and coupled into the human tissue, up to a depth of up to 35mm. The effects on the tissue are: increasing of metabolic processes, antiphlogistic and vasodilatation effects and neoangiogenesis with correlate increase of the fluid transport.

A double blind study against placebo was carried out in order to assess the inhibition induced by oxatomide gel in specific and aspecific cutaneous responses (prick test). Twenty allergic patients (8 M, 12 F) aged between 15 and 59 years (average 31) were treated for 7 days with oxatomide gel 5% or with placebo (2 applications a day). The results show a significant reduction of itching and of wheal size (considering either major diameter and area) only in the oxatomide group (p less than 0.01 between times and p less than 0.001 between treatments), whereas among controls itching remained unchanged and wheal size increased. During the follow-up a gradual return of wheal size to initial values in the patients treated was observed.

Engine exhaust emission limits have been subject to increasingly severe controls during the last few years. This has led to the need for a suitably structured systemic approach to the problem of exhaust gas treatment, instead of just focusing on improving catalytic converters efficiency, in other words, it has become increasingly more productive, and necessary, to carry out “global” optimization of the chemical conversion process generally present when gases are burnt, along with activities aimed directly at reduce the cause of their creation, acting on the engine geometric and operating parameters. This work was aimed at an operating experimental analysis of alternative fuel injection systems to optimize their use in order to reduce exhaust emissions in spark ignition engines, especially during cold starts in low temperature conditions.Copyright © 2002 by ASME

Multivaried and trend analyses were applied to a set of 27 periodic haematochemical checks on 37 patients given surgery for biliopancreatic pathology. Preoperative and postoperative data were separately analysed. The software employed was specially designed for the purpose. The discriminating function was used in the preoperative period to establish the best moment for diagnosis, which turns out to be 5 days after admission to hospital. Variance and regression analyses were used for short term prognosis by calculating survival chances. In one case the prognosis turned out to be distinctly inaccurate.

In this study, the non-food use of Brassica carinata oil for biodiesel production was investigated. B. carinata, a native plant of the Ethiopian highlands widely used as food by the Ethiopians, has recently become object of increasing interest. This is due to its better agronomic performances in areas such as Spain, California and Italy that are characterized by unfavorable environmental conditions for the cultivation of Brassica napus (by far the most common rapeseed cultivated in continental Europe). The agronomic performance and the energetic balance described here confirmed that B. carinata adapted better and was more productive both in adverse conditions (clay- and sandy-type soils and in semi-arid temperate climate) and under low cropping system when compared with B. napus. The biodiesel, produced by transesterification of the oil extracted from the B. carinata seeds, displayed physical–chemical properties suitable for the use as diesel car fuel. A comparison of the performance of B. carinata oil-derived biodiesel with a commercial biodiesel and petroleum diesel fuel was conducted as regards engine performance, regulated and unregulated exhaust emissions. These results make B. carinata a promising oil feedstock for cultivation in coastal areas of central-southern Italy, where it is more difficult to achieve the productivity potentials of B. napus, and could offer the possibility of exploiting the Mediterranean marginal areas for energetic purposes.

A comparison of the performance of Brassica carinata oil-derived biodiesel with a commercial rapeseed oil-derived biodiesel and petroleum diesel fuel is discussed as regards engine performance and regulated and unregulated exhaust emissions. B. carinata is an oil crop that can be cultivated in coastal areas of central-southern Italy, where it is more difficult to achieve the productivity potentials of Brassica napus (by far the most common rapeseed cultivated in continental Europe). Experimental tests were carried out on a turbocharged direct injection passenger car diesel engine fueled with 100% biodiesel. The unregulated exhaust emissions were characterized by determining the SOOT and soluble organic fraction content in the particulate matter, together with analysis of the content and speciation of polycyclic aromatic hydrocarbons, some of which are potentially carcinogenic, and of carbonyl compounds (aldehydes, ketones) that act as ozone precursors. B. carinata and commercial biodiesel behaved similarly as far as engine performance and regulated and unregulated emissions were concerned. When compared with petroleum diesel fuel, the engine test bench analysis did not show any appreciable variation of output engine torque values, while there was a significant difference in specific fuel consumption data at the lowest loads for the biofuels and petroleum diesel fuel. The biofuels were observed to produce higher levels of NOx concentrations and lower levels of PM with respect to the diesel fuel. The engine heat release analysis conducted shows that there is a potential for increased thermal NOx generation when firing biodiesel with no prior modification to the injection timing. It seems that, for both the biofuels, this behavior is caused by an advanced combustion evolution, which is particularly apparent at the higher loads. When compared with petroleum diesel fuel, biodiesel emissions contain less SOOT, and a greater fraction of the particulate was soluble. The analysis and speciation of the soluble organic fraction of biodiesel particulate suggest that the carcinogenic potential of the biodiesel emissions is probably lower than that of petroleum diesel. Its better adaptivity and productivity in clay and sandy-type soils and in semiarid temperate climate and the fact that the performance of its derived biodiesel is quite similar to commercial biodiesel make B. carinata a promising oil crop that could offer the possibility of exploiting the Mediterranean marginal areas for energetic purposes.

The tighter limits introduced by EURO3 and EURO4 regulations involve the adoption of exhaust configurations, in which the converter is located close to the manifold, in order to reduce light off time, and so to obtain lower emissions. This type of configuration introduces new problems relative to optimisation of the exhaust manifold geometry, which is no longer only linked to engine performance, but also has to guarantee the best possible operation of the exhaust gas treatment system. Critical parameters include lambda probe positioning and impingement of the gas flow, along with establishment of a flow field that corresponds to the catalytic converter intake area, as imposed by well known requests of reliability and functionality. The present work is aimed at integrated modelling and experimental optimisation of exhaust manifold geometry, with regard to oxygen sensor positioning and catalyst intake flow distribution, to find the best compromise between engine performance and exhaust emissions control.Copyright © 2002 by ASME