OBJECTIVE--To assess the feasibility of genetic counselling in general practice by using cystic fibrosis carrier screening at the booking appointment as an integral part of routine antenatal care and ...as a paradigm for the wider participation of general practitioners in medical genetics. DESIGN--Maternal testing (male partner tested only if woman screens positive) and couple testing for cystic fibrosis carrier status in the antenatal population attending one general practice and, later, in a further six (outreach) practices also. SETTING--Two partner urban training practice (pilot practice) in south Manchester, and six north west practices (two inner city, three urban, one rural dispensing). SUBJECTS--Total practice population of 50,000 (pilot practice plus six outreach practices) with an estimated 500-800 pregnancies per year. MAIN OUTCOME MEASURES--(a) Proportion of carriers of cystic fibrosis identified, counselled, and appropriately managed within the first trimester of pregnancy; (b) questionnaire and interview measures of patient satisfaction and stress. RESULTS--Eleven carriers of cystic fibrosis were detected including one carrier couple. This carrier couple, after extensive counselling, elected to have prenatal diagnosis by chorionic villus biopsy. The fetus was homozygous normal. CONCLUSIONS--General practitioners can successfully integrate genetic counselling and cystic fibrosis carrier screening into the first antenatal booking appointment. When a carrier couple is identified clinical geneticists can help with the discussion of reproductive options, and prenatal diagnosis by chorionic villus biopsy can be completed within the first trimester. The results suggest that general practitioners will have an increasingly important role in medical genetics, subject to continuing evaluation of patient acceptability and stress.
Field programmable gate arrays (FPGAs) can accelerate image processing by exploiting fine-grained parallelism opportunities in image operations. FPGA language designs are often subsets or extensions ...of existing languages, though these typically lack suitable hardware computation models so compiling them to FPGAs leads to inefficient designs. Moreover, these languages lack image processing domain specificity. Our solution is RIPL, an image processing domain specific language (DSL) for FPGAs. It has algorithmic skeletons to express image processing, and these are exploited to generate deep pipelines of highly concurrent and memory-efficient image processing components.
Modeling Complex Air Traffic Management Systems Rungta, Neha; Mercer, Eric G.; Raimondi, Franco ...
2016 IEEE/ACM 8th International Workshop on Modeling in Software Engineering (MiSE)
Conference Proceeding
In this work, we propose the use of multi-agent system (MAS) models as the basis for predictive reasoning about various safety conditions and the performance of Air Traffic Management (ATM) Systems. ...To this end, we describe the engineering of a domain-specific MAS model that provides constructs for creating scenarios related to ATM systems and procedures; we then instantiate the constructs in the ATM model for different scenarios. As a case study we generate a model for a concept that provides the ability to maximize departure throughput at La Guardia airport (LGA) without impacting the flow of the arrival traffic; the model consists of approximately 1.5 hours real time flight data. During this time, between 130 and 150 airplanes are managed by four en- route controllers, three TRACON controllers, and one tower controller at LGA who is responsible for departures and ar- rivals. The planes are landing at approximately 36 to 40 planes an hour. A key contribution of this work is that the model can be extended to various air-traffic management scenarios and can serve as a template for engineering large- scale models in other domains.
A model for an α-helical peptide library based on a lactam bridged stabilized two-stranded α-helical coiled-coil is described. Sites for library display were incorporated in the middle of the peptide ...sequence on the most solvent accessible sites of a coiled-coil. A comparison was made between this coiled coil and a native coiled-coil based on the same sequence but lacking the lactam bridges. A lactam bridged peptide where the hydrophobic repeat consisted of all alanine residues, such that the tendency to dimerize would be diminished, was also prepared. This enabled us to determine the role tertiary interactions play in maintaining library positions in a helical conformation. The consensus sequence derived from a Zn finger library screened against an IgA reactive against the lipopolysaccharide of
Shigella flexneriwas transplanted into the peptides. CD spectroscopy revealed that although both coiled-coils are highly helical at 100 μM, the lactam bridges enhanced dimerization and allow the peptide to maintain its coiled-coil conformation at lower peptide concentrations. The helical content of the alanine based peptide was 69% and was independent of concentration over a range of 1.4 to 1410 μM. Urea denaturation studies indicated that the coiled-coils were considerably more stable than the alanine based peptide and that the lactam bridge coiled-coil was more stable than the native coiled coil by 1.6 kcal/mol. The lactam bridged coiled-coil was found to inhibit binding of the Zn finger peptide to the IgA in a concentration dependent manner with an IC
50of 5.0 μM whereas the peptide lacking the lactam bridges was much less effective in inhibiting binding. The alanine peptide was less active than the lactam bridged coiled-coil but more effective than the native coiled-coil with an IC
50of 16 μM. The versatility of the lactam stabilized coiled-coil template was demonstrated by incorporating five Gly residues into the library display sites. While the native coiled-coil adopted a random conformation the lactam bridged coiled-coil was 59% helical. Incorporation of a Cys-Gly-Gly linker to the N terminus and formation of a disulfide bond stabilized the peptide to the extent that it adopted a highly helical coiled-coil (94%) with a urea
1/2value of 5.9 M. Since the five glycine residues represent one of the most destabilizing combinations of amino acids that would be encountered at the five library display sites (with the exception of Pro), this stabilized coiled-coil should maintain its folded conformation regardless of the amino acids occupying the library positions.
Recently it has been reported that a missense G(88)C mutation within exon 3 and a missense G(209)A mutation within exon 4 of the alpha-synuclein gene were linked to familial Parkinson's Disease (PD). ...We decided to investigate if these and any other mutations in exons 3 and 4 of the alpha-synuclein gene could be detected in sixty two sporadic PD and dementia with Lewy bodies (DLB) patients. Four cases of familial DLB were also studied, two of which were from the same family. Single stranded conformational polymorphism, DNA sequencing analyses and PCR-RFLP of exons 3 and 4 failed to reveal any nucleotide changes. However, three nucleotide differences occurred in the intron 4 sequence compared to the published sequence. This study adds further support to the idea that these particular mutation in the alpha-synuclein gene are a rare case of PD and now, as we have shown here, also of DLB.
Depth sensor placement for human robot cooperation Stahr, Max; Wallace, Andrew M.; Robertson, Neil
2014 11th International Conference on Informatics in Control, Automation and Robotics (ICINCO),
2014-Sept., Letnik:
2
Conference Proceeding
Odprti dostop
Continuous sensing of the environment from a mobile robot perspective can prevent harmful collisions between human and mobile service robots. However, the overall collision avoidance performance ...depends strongly on the optimal placement of multiple depth sensors on the mobile robot and maintains flexibility of the working area. In this paper, we present a novel approach to optimal sensor placement based on the visibility of the human in the robot environment combined with a quantified risk of collision. Human visibility is determined by ray tracing from all possible camera positions on the robot surface, quantifying safety based on the speed and direction of the robot throughout a pre-determined task. A cost function based on discrete cells is formulated and solved numerically for two scenarios of increasing complexity, using a CUDA implementation to reduce computation time.
It is interesting to reflect upon past conversations and to explore their implications for current practice. That is the point of the current paper, which looks back at our progress towards adopting ...a rural lens to drive policy--to develop initiatives for rural education based upon rural needs, rather than apparent metro-centric political decision making and policy development.
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