CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features. He has developed ichthyosis and palmoplantar keratoderma as he has grown. Exome sequencing identified a homozygous nonsense mutation in SNAP29 gene designated as c.85C>T (p.Arg29X). The authors compare the findings in the proband with previously reported cases. The previously unreported mutation in this patient and his phenotype add to the characterization of cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome and the accumulating scientific evidence that implicates synaptic protein dysfunction in various neuroectodermal conditions

Integrating telehealth care-generated data with the family practice electronic medical record:qualitative exploration of the views of primary care staff

BACKGROUND: Telehealth care is increasingly being employed in the management of long-term illness. Current systems are largely managed via “stand-alone” websites, which require additional log-ons for clinicians to view their patients’ symptom records and physiological measurements leading to frustrating delays and sometimes failure to engage with the record. However, there are challenges to the full integration of patient-acquired data into family physicians’ electronic medical records (EMR) in terms of reliability, how such data can best be summarized and presented to avoid overload to the clinicians, and how clarity of responsibility is managed when multiple agencies are involved. OBJECTIVE: We aimed to explore the views of primary care clinicians on the acceptability, clinical utility, and, in particular, the benefits and risks of integrating patient-generated telehealth care data into the family practice EMR and to explore how these data should be summarized and presented in order to facilitate use in routine care. METHODS: In our qualitative study, we carried out semi-structured interviews with clinicians with experience of and naïve to telehealth care following demonstration of pilot software, which illustrated various methods by which data could be incorporated into the EMR. RESULTS: We interviewed 20 clinicians and found 2 overarching themes of “workload” and “safety”. Although clinicians were largely positive about integrating telehealth care data into the EMR, they were concerned about the potential increased workload and safety issues, particularly in respect to error due to data overload. They suggested these issues could be mitigated by good system design that summarized and presented data such that they facilitated seamless integration with clinicians’ current routine processes for managing data flows, and ensured clear lines of communication and responsibility between multiple professionals involved in patients’ care. CONCLUSIONS: Family physicians and their teams are likely to be receptive to and see the benefits of integrating telehealth-generated data into the EMR. Our study identified some of the key challenges that must be overcome to facilitate integration of telehealth care data. This work particularly underlines the importance of actively engaging with clinicians to ensure that systems are designed that align well with existing practice data-flow management systems and facilitate safe multiprofessional patient care

Microstructure Evolution of In Situ Pulsed-Laser Crystallized Pb(Zr0.52Ti0.48)O3 Thin Films

Integration of lead zirconate titanate (PZT) films with temperature-sensitive substrates (CMOS, polymers) would benefit from growth at substrate temperatures below 400°C. In this work, in situ pulsed-laser annealing [Rajashekhar et al. (2013) Appl. Phys. Lett., 103 [3] 032908] was used to grow crystalline lead zirconate titanate (PbZr0.52Ti0.48O3) thin films at a substrate temperature of ~370°C on PbZr0.30Ti0.70O3-buffered platinized silicon substrates. Transmission electron microscopy analysis indicated that the films were well crystallized into columnar grains, but with pores segregated at the grain boundaries. Lateral densification of the grain columns was significantly improved by reducing the partial pressure of oxygen from 120 to 50 mTorr, presumably due to enhanced adatom mobility at the surface accompanying increased bombardment. It was found that varying the fractional annealing duration with respect to the deposition duration produced little effect on lateral grain growth. However, increasing the fractional annealing duration led to shift of 111 PZT X-ray diffraction peaks to higher 2θ values, suggesting residual in-plane tensile stresses in the films. Thermal simulations were used to understand the annealing process. Evolution of the film microstructure is described in terms of transient heating from the pulsed laser determining the nucleation events, while the energy of the arriving species dictates grain growth/coarsening

Chinook Salmon Adult Abundance Monitoring; Hydroacoustic Assessment of Chinook Salmon Escapement to the Secesh River, Idaho, 2002-2004 Final Report.

Accurate determination of adult salmon spawner abundance is key to the assessment of recovery actions for wild Snake River spring/summer Chinook salmon (Onchorynchus tshawytscha), a species listed as 'threatened' under the Endangered Species Act (ESA). As part of the Bonneville Power Administration Fish and Wildlife Program, the Nez Perce Tribe operates an experimental project in the South Fork of the Salmon River subbasin. The project has involved noninvasive monitoring of Chinook salmon escapement on the Secesh River between 1997 and 2000 and on Lake Creek since 1998. The overall goal of this project is to accurately estimate adult Chinook salmon spawning escapement numbers to the Secesh River and Lake Creek. Using time-lapse underwater video technology in conjunction with their fish counting stations, Nez Perce researchers have successfully collected information on adult Chinook salmon spawner abundance, run timing, and fish-per-redd numbers on Lake Creek since 1998. However, the larger stream environment in the Secesh River prevented successful implementation of the underwater video technique to enumerate adult Chinook salmon abundance. High stream discharge and debris loads in the Secesh caused failure of the temporary fish counting station, preventing coverage of the early migrating portion of the spawning run. Accurate adult abundance information could not be obtained on the Secesh with the underwater video method. Consequently, the Nez Perce Tribe now is evaluating advanced technologies and methodologies for measuring adult Chinook salmon abundance in the Secesh River. In 2003, the use of an acoustic camera for assessing spawner escapement was examined. Pacific Northwest National Laboratory, in a collaborative arrangement with the Nez Perce Tribe, provided the technical expertise to implement the acoustic camera component of the counting station on the Secesh River. This report documents the first year of a proposed three-year study to determine the efficacy of using an acoustic camera to count adult migrant Chinook salmon as they make their way to the spawning grounds on the Secesh River and Lake Creek. A phased approach to applying the acoustic camera was proposed, starting with testing and evaluation in spring 2003, followed by a full implementation in 2004 and 2005. The goal of this effort is to better assess the early run components when water clarity and night visibility preclude the use of optical techniques. A single acoustic camera was used to test the technology for enumerating adult salmon passage at the Secesh River. The acoustic camera was deployed on the Secesh at a site engineered with an artificial substrate to control the river bottom morphometry and the passage channel. The primary goal of the analysis for this first year of deployment was to validate counts of migrant salmon. The validation plan involved covering the area with optical video cameras so that both optical and acoustic camera images of the same viewing region could be acquired simultaneously. A secondary test was contrived after the fish passage was complete using a controlled setting at the Pacific Northwest National Laboratory in Richland, Washington, in which we tested the detectability as a function of turbidity levels. Optical and acoustic camera multiplexed video recordings of adult Chinook salmon were made at the Secesh River fish counting station from August 20 through August 29, 2003. The acoustic camera performed as well as or better than the optical camera at detecting adult Chinook salmon over the 10-day test period. However, the acoustic camera was not perfect; the data reflected adult Chinook salmon detections made by the optical camera that were missed by the acoustic camera. The conditions for counting using the optical camera were near ideal, with shallow clear water and good light penetration. The relative performance of the acoustic camera is expected to be even better than the optical camera in early spring when water clarity and light penetration are limited. Results of the laboratory tests at the Pacific Northwest National Laboratory facility indicated that the detection rate for the acoustic camera system was essentially 100% across all levels of turbidity in the experiments. Overall, the acoustic camera outperformed the optical camera at detecting fish, both in the laboratory tank and at the Secesh River fish counting station. However, the optical camera approach still offers some advantages over the acoustic camera under certain limited circumstances. The primary advantages are better species, gender and condition determination and better separation of debris from fish moving downstream. Using both systems in parallel will provide the most robust and accurate platform for counting fish in the field by exploiting the relative strengths of both systems through the season

Progress Towards a Multi-Modal Capsule Endoscopy Device Featuring Microultrasound Imaging

Current clinical standards for endoscopy in the gastrointestinal (GI) tract combine high definition optics and ultrasound imaging to view the lumen superficially and through its thickness. However, these instruments are limited to the length of an endoscope and the only clinically available, autonomous devices able to travel the full length of the GI tract easily offer only video capsule endoscopy (VCE). Our work seeks to overcome this limitation with a device (“Sonopill”) for multimodal capsule endoscopy, providing optical and microultrasound (μUS) imaging and supporting sensors1. μUS transducers have been developed with multiple piezoelectric materials operating across a range of centre frequencies to study viability in the GI tract. Because of the combined constraints of μUS imaging and the low power / heat tolerance of autonomous devices, a hybrid approach has been taken to the transducer design, with separate transmit and receive arrays allowing multiple manufacturing approaches to maximise system efficiency. To explore these approaches fully, prototype devices have been developed with PVDF, high-frequency PZT and PMN-PT composites, and piezoelectric micromachined ultrasonic transducer arrays. Test capsules have been developed using 3D printing to investigate issues including power consumption, heat generation / dissipation, acoustic coupling, signal strength and capsule integrity. Because of the high functional density of the electronics in our proposed system, application specific integrated circuits (ASICs) have been developed to realise the ultrasound transmit and receive circuitry along with white-light and autofluorescence imaging with single-photon avalanche detectors (SPADs). The ultrasound ASIC has been developed and the SPAD electronics and optical subsystem have been validated experimentally. The functionality of various transducer materials has been examined as a function of frequency and ultrasound transducers have been developed to operate at centre frequencies in the range 15 - 50 MHz. Ex vivo testing of porcine tissue has been performed, generating images of interest to the clinical community, demonstrating the viability of the Sonopill concept