Variable phenotype in 16p duplication within a family

Background More individuals are now being identified with very rare genetic syndromes. We present a family with an inherited duplication of 16p11.2 to 16q12.1 in ring formation. Three of the four children, (aged 15 months to 10 years), mother, uncle, and grandmother are affected. Our aim was to provide preliminary evidence of possible phenotypic patterns of learning and behaviour associated with this chromosome anomaly. Method Psychometric assessments were undertaken with all four children. The mother and uncle also agreed to participate in the study. Measures of development (Bayley or Mullen), intellectual ability (WISC-IV or WAIS-III), academic achievement (WIAT-II), adaptive behaviour (Vinelands), and other relevant aspects of functioning (e.g., Children’s Memory Scale) were administered. Results. The first-born child is the only one who is unaffected. Her intellectual ability was assessed as being within the superior range. The second child experienced early difficulties with speech and motor skills. Although his intelligence is average, he has learning difficulties and significant auditory memory problems. The third child’s speech and motor milestones were markedly delayed. He has a complex medical history that includes a vitamin B12 deficiency. On the Mullen Scales at age 4 his scores ranged from average to very low. The development of the youngest child (aged 15 months), who also had a B12 deficiency but was treated early, was assessed as being within typical limits. Conclusions There is considerable developmental variability among the three children with this inherited 16p duplication. We discuss the intriguing similarities and differences, considering common features that may reflect phenotypic patterns and speculating about possible explanations for the variable presentations.

Shortest path and vehicle trajectory aided map-matching for low frequency GPS data

Map-matching algorithms that utilise road segment connectivity along with other data (i.e.position, speed and heading) in the process of map-matching are normally suitable for high frequency (1 Hz or higher) positioning data from GPS. While applying such map-matching algorithms to low frequency data (such as data from a fleet of private cars, buses or light duty vehicles or smartphones), the performance of these algorithms reduces to in the region of 70% in terms of correct link identification, especially in urban and sub-urban road networks. This level of performance may be insufficient for some real-time Intelligent Transport System (ITS) applications and services such as estimating link travel time and speed from low frequency GPS data. Therefore, this paper develops a new weight-based shortest path and vehicle trajectory aided map-matching (stMM) algorithm that enhances the map-matching of low frequency positioning data on a road map. The well-known A* search algorithm is employed to derive the shortest path between two points while taking into account both link connectivity and turn restrictions at junctions. In the developed stMM algorithm, two additional weights related to the shortest path and vehicle trajectory are considered: one shortest path-based weight is related to the distance along the shortest path and the distance along the vehicle trajectory, while the other is associated with the heading difference of the vehicle trajectory. The developed stMM algorithm is tested using a series of real-world datasets of varying frequencies (i.e. 1 s, 5 s, 30 s, 60 s sampling intervals). A high-accuracy integrated navigation system (a high-grade inertial navigation system and a carrier-phase GPS receiver) is used to measure the accuracy of the developed algorithm. The results suggest that the algorithm identifies 98.9% of the links correctly for every 30 s GPS data. Omitting the information from the shortest path and vehicle trajectory, the accuracy of the algorithm reduces to about 73% in terms of correct link identification. The algorithm can process on average 50 positioning fixes per second making it suitable for real-time ITS applications and services.

Pilot study comparing the influence of different types of exercise intervention on the fear of falling in older adults

Background: Individuals who fear falling may restrict themselves from performing certain activities and may increase their risk of falling. Such fear, reflected in the form of falls efficacy, has been measured in only a small number of studies measuring the effectiveness of exercise interventions in the elderly. This may be due to the various types of exercise that can be performed. Hence the effectiveness of exercise on falls efficacy is relatively understudied. Therefore, there is a need to measure falls efficacy as an outcome variable when conducting exercise interventions in the elderly. Methods: A total of 43 elderly community-dwelling volunteers were recruited and randomly allocated to a conventional exercise intervention, a holistic exercise intervention, or a control group. The interventions were performed 2 days per week for 10 weeks. Falls efficacy was measured at baseline and at the completion of the interventions using the Modified Falls Efficacy Scale (MFES). Results: Within group comparisons between baseline and follow-up indicated no significant improvements in falls efficacy, however, the difference for the conventional exercise group approached statistical significance (baseline 8.9 to follow-up 9.3; P = 0.058). Within group comparisons of mean difference MFES scores showed a significant difference between the conventional exercise group and the control group (conventional exercise group 0.4 vs control group −0.6; P < 0.05). Conclusion: Given the lack of significant improvements in falls efficacy found for any of the groups, it cannot be concluded whether a conventional or a holistic exercise intervention is the best approach for improving falls efficacy. It is possible that the characteristics of the exercise interventions including specificity, intensity, frequency and duration need to be manipulated if the purpose is to bring about improvements in falls efficacy.

Pre-packaging preschool literacy: What drives early childhood teachers to use commercially produced phonics programs in prior to school settings

Language-rich environments are key to overall quality in early childhood settings, including frequent child–staff interactions around picture books and dramatic play. In a language-rich environment, explicit teaching of literacy concepts, such as phonics, is embedded in authentic and meaningful situations where alphabet letters and sounds are taught in a context meaningful to the child. Recent research, however, suggests that the use of commercial pre-packaged phonics programs (such as Letterland and Jolly Phonics) is widespread in prior to school settings in Sydney, Australia. Little is known about why early childhood teachers choose to use such programs with children aged five and under. In the present study, thematic analysis of data from interviews with five early childhood teachers using commercial phonics programs found that their reasons were pragmatic rather than pedagogical. Motivations included the idea that the programs reduced their workload, provided tangible evidence to parents of their child’s ‘school readiness’, and served as a marketing tool to attract parents. Further analysis found that the teachers were unable to articulate what phonics and phonological awareness are and how they are learnt in early childhood.

Frequency independence of ultrasound transit time spectroscopy

Recent studies have shown that ultrasound transit time spectroscopy (UTTS) is an alternative method to describe ultrasound wave propagation through complex samples as an array of parallel sonic rays. This technique has the potential to characterize bone properties including volume fraction and may be implemented in clinical systems to predict osteoporotic fracture risk. In contrast to broadband ultrasound attenuation, which is highly frequency dependent, we hypothesise that UTTS is frequency independent. This study measured 1 MHz and 5 MHz broadband ultrasound signals through a set of acrylic step-wedge samples. Digital deconvolution of the signals through water and each sample was applied to derive a transit time spectrum. The resulting spectra at both 1 MHz and 5 MHz were compared to the predicted transit time values. Linear regression analysis yields agreement (R2) of 99.23% and 99.74% at 1 MHz and 5 MHz respectively indicating frequency independence of transit time spectra.

Re-examining online customer experience to include purchase frequency and perceived risk

This research examines the important emerging area of online customer experience (OCE) using data collected from an online survey of frequent and infrequent online shoppers. The study examines a model of antecedents for cognitive and affective experiential states and their influence on outcomes, such as online shopping satisfaction and repurchase intentions. The model also examines the relationships between perceived risk, trust, satisfaction and repurchase intentions. Theoretically, the study provides a broader understanding of OCE, through insights into two shopper segments identified as being important in e-retailing. For managers, the study highlights areas of OCE and their implications for ongoing management of the online channel.

Fuzzy-logic based frequency controller for wind farms augmented with energy storage systems

Displacement of conventional synchronous generators by non-inertial units such as wind or solar generators will result in reduced-system inertia affecting under-frequency response. Frequency control is important to avoid equipment damage, load shedding, and possible blackouts. Wind generators along with energy storage systems can be used to improve the frequency response of low-inertia power system. This paper proposes a fuzzy-logic based frequency controller (FFC) for wind farms augmented with energy storage systems (wind-storage system) to improve the primary frequency response in future low-inertia hybrid power system. The proposed controller provides bidirectional real power injection using system frequency deviations and rate of change of frequency (RoCoF). Moreover, FFC ensures optimal use of energy from wind farms and storage units by eliminating the inflexible de-loading of wind energy and minimizing the required storage capacity. The efficacy of the proposed FFC is verified on the low-inertia hybrid power system.

Numerical treatment of a two-dimensional variable-order fractional nonlinear reaction-diffusion model

A two-dimensional variable-order fractional nonlinear reaction-diffusion model is considered. A second-order spatial accurate semi-implicit alternating direction method for a two-dimensional variable-order fractional nonlinear reaction-diffusion model is proposed. Stability and convergence of the semi-implicit alternating direct method are established. Finally, some numerical examples are given to support our theoretical analysis. These numerical techniques can be used to simulate a two-dimensional variable order fractional FitzHugh-Nagumo model in a rectangular domain. This type of model can be used to describe how electrical currents flow through the heart, controlling its contractions, and are used to ascertain the effects of certain drugs designed to treat arrhythmia.

Investigation of drive-train dynamics of mechanical transmissions incorporating cycloidal drives

Cycloidal drives are compact, high-ratio gear transmission systems used in a wide range of mechanical applications from conveyor drives to articulated robots. This research hypothesises that these drives can be successfully applied in dynamic loading situations and thereby focuses on the understanding of differences between static and dynamic loading conditions where load varies with time. New methods of studying the behaviour of these drives under static and dynamic loading circumstances were developed, leading to novel understanding and knowledge. A new model was developed to facilitate research and development on Cycloidal drives with potential benefits for manufacturing, robotics and mechanical-process-industries worldwide.

A novel approach to increasing inventory with the current panel: Increasing donation frequency by asking for a different blood product

BACKGROUND Ongoing shortages of blood products may be addressed through additional donations. However, donation frequency rates are typically lower than medically possible. This preliminary study aims to determine voluntary nonremunerated whole blood (WB) and plasmapheresis donors' willingness, and subsequent facilitators and barriers, to make additional donations of a different type. STUDY DESIGN AND METHODS Forty individual telephone interviews were conducted posing two additional donation pattern scenarios: first, making a single and, second, making multiple plasmapheresis donations between WB donations. Stratified purposive sampling was conducted for four samples varying in donation experience: no-plasma, new-to-both-WB-and-plasma, new-to-plasma, and plasma donors. Interviews were analyzed yielding excellent (κ values > 0.81) inter-rater reliability. RESULTS Facilitators were more endorsed than barriers for a single but not multiple plasmapheresis donation. More new-to-both donors (n = 5) were willing to make multiple plasma donations between WB donations than others (n = 1 each) and identified fewer barriers (n = 3) than those more experienced in donation (n = 8 no plasma, n = 10 new to both, n = 11 plasma). Donors in the plasma sample were concerned about the subsequent reduced time between plasma donations by adding WB donations (n = 3). The no-plasma and new-to-plasma donors were concerned about the time commitment required (n = 3). CONCLUSION Current donors are willing to add different product donations but donation history influences their willingness to change. Early introduction of multiple donation types, variation in inventory levels, and addressing barriers will provide blood collection agencies with a novel and cost-effective inventory management strategy.

The optimal frequency of aquatic physiotherapy for individuals with chronic musculoskeletal pain: a randomised controlled trial

Purpose: To establish whether there was a difference in health-related quality of life (HRQoL) in people with chronic musculoskeletal disorders (PwCMSKD) after participating in a multimodal physiotherapy program (MPP) either two or three sessions a week. Methods: Total of 114 PwCMSKD participated in this prospective randomised controlled trial. An individualised MPP, consisting of exercises for mobility, motor-control, muscle strengthening, cardiovascular training, and health education, was implemented either twice a week (G2: n = 58) or three times a week) (G3: n = 56) for 1 year. Outcomes: HRQoL physical and mental health state (PHS/MHS), Roland Morris disability Questionnaire (RMQ), Neck-Disability-Index (NDI) and Western Ontario and McMaster Universities’ Arthritis Index (WOMAC) were used to measure outcomes of MPP for people with chronic low back pain, chronic neck pain and osteoarthritis, respectively. Measures were taken at baseline, 8 weeks (8 w), 6 months (6 m), and 1 year (1 y) after starting the programme. Results: No statistically significant differences were found between the two groups (G2 and G3), except in NDI at 8 w (−3.34, (CI 95%: −6.94/0.84, p = 0.025 (scale 0–50)). All variables showed improvement reaching the following values (from baseline to 1 y) G2: PHS: 57.72 (baseline: 41.17; (improvement: 16.55%), MHS: 74.51 (baseline: 47.46, 27.05%), HRQoL 0.90 (baseline: 0.72, 18%)), HRQoL-VAS 84.29 (baseline: 58.04, 26.25%), RMQ 4.15 (baseline: 7.85, 15.42%), NDI 3.96 (baseline: 21.87, 35.82%), WOMAC 7.17 (baseline: 25.51, 19.10%). G3: PHS: 58.64 (baseline: 39.75, 18.89%), MHS: 75.50 (baseline: 45.45, (30.05%), HRQoL 0.67 (baseline: 0.88, 21%), HRQoL-VAS 86.91 (baseline: 52.64, 34.27%), RMQ 4.83 (baseline: 8.93, 17.08%), NDI 4.91 (baseline: 23.82, 37.82%), WOMAC 6.35 (baseline: 15.30, 9.32%). Conclusions: No significant differences between the two groups were found in the outcomes of a MPP except in the NDI at 8 weeks, but both groups improved in all variables during the course of 1 year under study.

fMRI evidence of word frequency and strength effects in recognition memory

We used event-related fMRI to investigate the neural correlates of encoding strength and word frequency effects in recognition memory. At test, participants made Old/New decisions to intermixed low (LF) and high frequency (HF) words that had been presented once or twice at study and to new, unstudied words. The Old/New effect for all hits vs. correctly rejected unstudied words was associated with differential activity in multiple cortical regions, including the anterior medial temporal lobe (MTL), hippocampus, left lateral parietal cortex and anterior left inferior prefrontal cortex (LIPC). Items repeated at study had superior hit rates (HR) compared to items presented once and were associated with reduced activity in the right anterior MTL. By contrast, other regions that had shown conventional Old/New effects did not demonstrate modulation according to memory strength. A mirror effect for word frequency was demonstrated, with the LF word HR advantage associated with increased activity in the left lateral temporal cortex. However, none of the regions that had demonstrated Old/New item retrieval effects showed modulation according to word frequency. These findings are interpreted as supporting single-process memory models proposing a unitary strength-like memory signal and models attributing the LF word HR advantage to the greater lexico-semantic context-noise associated with HF words due to their being experienced in many pre-experimental contexts.

fMRI evidence of word frequency and strength effects during episodic memory encoding

Word frequency (WF) and strength effects are two important phenomena associated with episodic memory. The former refers to the superior hit-rate (HR) for low (LF) compared to high frequency (HF) words in recognition memory, while the latter describes the incremental effect(s) upon HRs associated with repeating an item at study. Using the "subsequent memory" method with event-related fMRI, we tested the attention-at-encoding (AE) [M. Glanzer, J.K. Adams, The mirror effect in recognition memory: data and theory, J. Exp. Psychol.: Learn Mem. Cogn. 16 (1990) 5-16] explanation of the WF effect. In addition to investigating encoding strength, we addressed if study involves accessing prior representations of repeated items via the same mechanism as that at test [J.L. McClelland, M. Chappell, Familiarity breeds differentiation: a subjective-likelihood approach to the effects of experience in recognition memory, Psychol. Rev. 105 (1998) 724-760], entailing recollection [K.J. Malmberg, J.E. Holden, R.M. Shiffrin, Modeling the effects of repetitions, similarity, and normative word frequency on judgments of frequency and recognition memory, J. Exp. Psychol.: Learn Mem. Cogn. 30 (2004) 319-331] and whether less processing effort is entailed for encoding each repetition [M. Cary, L.M. Reder, A dual-process account of the list-length and strength-based mirror effects in recognition, J. Mem. Lang. 49 (2003) 231-248]. The increased BOLD responses observed in the left inferior prefrontal cortex (LIPC) for the WF effect provide support for an AE account. Less effort does appear to be required for encoding each repetition of an item, as reduced BOLD responses were observed in the LIPC and left lateral temporal cortex; both regions demonstrated increased responses in the conventional subsequent memory analysis. At test, a left lateral parietal BOLD response was observed for studied versus unstudied items, while only medial parietal activity was observed for repeated items at study, indicating that accessing prior representations at encoding does not necessarily occur via the same mechanism as that at test, and is unlikely to involve a conscious recall-like process such as recollection. This information may prove useful for constraining cognitive theories of episodic memory.

Independent distractor frequency and age-of-acquisition dffects in picture-word interference: FMRI evidence for post-lexical and lexical accounts according to distractor type

In two fMRI experiments, participants named pictures with superimposed distractors that were high or low in frequency or varied in terms of age of acquisition. Pictures superimposed with low-frequency words were named more slowly than those superimposed with high-frequency words, and late-acquired words interfered with picture naming to a greater extent than early-acquired words. The distractor frequency effect (Experiment 1) was associated with increased activity in left premotor and posterior superior temporal cortices, consistent with the operation of an articulatory response buffer and verbal selfmonitoring system. Conversely, the distractor age-of-acquisition effect (Experiment 2) was associated with increased activity in the left middle and posterior middle temporal cortex, consistent with the operation of lexical level processes such as lemma and phonological word form retrieval. The spatially dissociated patterns of activity across the two experiments indicate that distractor effects in picture-word interference may occur at lexical or postlexical levels of processing in speech production.

Real time maximum power conversion tracking and resonant frequency modification for high power piezoelectric ultrasound transducer

Piezoelectric ultrasound transducers are commonly used to convert mechanical energy to electrical energy and vice versa. The transducer performance is highly affected by the frequency at which it is excited. If excitation frequency and main resonant frequency match, transducers can deliver maximum power. However, the problem is that main resonant frequency changes in real time operation resulting in low power conversion. To achieve the maximum possible power conversion, the transducer should be excited at its resonant frequency estimated in real time. This paper proposes a method to first estimate the resonant frequency of the transducer and then tunes the excitation frequency accordingly in real time. The measurement showed a significant difference between the offline and real time resonant frequencies. Also, it was shown that the maximum power was achieved at the resonant frequency estimated in real time compare to the one measured offline.