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https://www.readbyqxmd.com/read/28230599/a-targeted-next-generation-genetic-sequencing-study-on-tetralogy-of-fallot-combined-with-cleft-lip-and-palate
#1
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28229348/brief-report-using-ipads-for-self-monitoring-of-students-with-autism
#2
Joy F Xin, Mary E Sheppard, Michelle Brown
This study examined the effect of using an iPad for students with autism spectrum disorder (ASD) on self-monitoring their behaviors in class. Four students with ASD were taught on-task behaviors by watching self-modeled video saved in the application "Choiceworks" on their iPads, and collected data on their own behaviors. A single subject research design with ABAB phases was used. Student behaviors were observed using interval recording and behavioral occurrences were compared across phases. Results showed that the participating students' on-task behaviors (e...
February 22, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28224606/single-subject-research-designs-in-pediatric-rehabilitation-a-valuable-step-towards-knowledge-translation
#3
REVIEW
Lynne Romeiser-Logan, Rebecca Slaughter, Robbin Hickman
Knowledge translation may be particularly challenging in pediatric rehabilitation, where study findings are often ambiguous owing to low statistical power or inconsistent responses to intervention. Disconnection between research protocols and clinical practicality, as well as variability of responsiveness in heterogeneous pediatric populations, may further impede integration of research findings into everyday practice. Use of single-subject research designs (SSRDs) may bridge the gap between research and practice, with robust design options that better identify and preserve patterns of responsiveness to specific interventions and offer protocols that are more readily implemented in practice settings than can be done in traditional randomized controlled trials...
February 22, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28210066/effects-of-interactive-metronome-training-on-postural-stability-and-upper-extremity-function-in-parkinson-s-disease-a-case-study
#4
Arim Kim, Hye-Sun Lee, Chiang-Soon Song
[Purpose] The purpose of this study was to examine the effects of interactive metronome training on the postural stability and upper extremity function of an individual with Parkinson's disease. [Subject and Methods] The participant of this case study was a 75-year-old female with Parkinson's disease diagnosed 7 years prior. This study was a single-subject research with an A-B-A design. She received IM training during the treatment phase (B phase) for 40 minutes per session. She was assessed pretest and posttest using the Berg balance scale and Wolf motor function test, and at baseline and the treatment phase using the measured box-and-block test and a Tetrax system...
January 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28188914/connectivity-based-parcellation-reveals-distinct-cortico-striatal-connectivity-fingerprints-in-autism-spectrum-disorder
#5
Joshua H Balsters, Dante Mantini, Nicole Wenderoth
Autism Spectrum Disorder (ASD) has been associated with abnormal synaptic development causing a breakdown in functional connectivity. However, when measured at the macro scale using resting state fMRI, these alterations are subtle and often difficult to detect due to the large heterogeneity of the pathology. Recently, we outlined a novel approach for generating robust biomarkers of resting state functional magnetic resonance imaging (RS-fMRI) using connectivity based parcellation of gross morphological structures to improve single-subject reproducibility and generate more robust connectivity fingerprints...
February 7, 2017: NeuroImage
https://www.readbyqxmd.com/read/28185628/use-of-bedside-abdominal-ultrasound-to-confirm-intestinal-motility-in-neonates-with-gastroschisis-a-feasibility-study
#6
Lori A Gurien, Deidre L Wyrick, Melvin S Dassinger, Jeffrey M Burford, Steven C Mehl, Marie E Saylors, Samuel D Smith
BACKGROUND: Optimal timing to begin feeds in neonates with gastroschisis remains unclear. We examined if bedside abdominal ultrasound for intestinal motility is a feasible tool to detect return of bowel function in neonates with gastroschisis. METHODS: Neonates born with uncomplicated gastroschisis who underwent closure received daily ultrasound exams. Full motility was defined as peristalsis seen in all quadrants. Average length of time between abdominal wall closure and start of enteral feeds, full ultrasound motility, and clinical characteristics was compared using Student's t-tests...
January 26, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28183990/human-dosimetry-of-the-nmda-receptor-ligand-11-c-gmom
#7
Jasper van der Aart, Thalia F van der Doef, Paul Horstman, Marc C Huisman, Robert C Schuit, Arthur van Lingen, Albert D Windhorst, Bart N M van Berckel, Adriaan A Lammertsma
The methylguanadine derivative [(11)C]GMOM has been used successfully to quantify N-methyl-D-aspartate (NMDA) receptor binding in humans. The purpose of the present study was to estimate the [(11)C]GMOM radiation dose in healthy humans. Methods: Following [(11)C]GMOM injection, three female and two male subjects underwent 10 consecutive whole body PET scans in approximately 77 minutes. 7 source organs were defined manually, scaled to a gender specific reference, and residence times were calculated for input into OLINDA/EXM software...
February 9, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28179553/mouth-and-voice-a-relationship-between-visual-and-auditory-preference-in-the-human-superior-temporal-sulcus
#8
Lin L Zhu, Michael S Beauchamp
Cortex in and around the human posterior superior temporal sulcus (pSTS) is known to be critical for speech perception. The pSTS responds to both the visual modality (especially biological motion) and the auditory modality (especially human voices). Using fMRI in single subjects with no spatial smoothing, we show that visual and auditory selectivity are linked. Regions of the pSTS were identified that preferred visually-presented moving mouths (presented in isolation or as part of a whole face) or moving eyes...
February 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28176413/anomalous-single-subject-based-morphological-cortical-networks-in-drug-naive-first-episode-major-depressive-disorder
#9
Taolin Chen, Keith M Kendrick, Jinhui Wang, Min Wu, Kaiming Li, Xiaoqi Huang, Yuejia Luo, Su Lui, John A Sweeney, Qiyong Gong
Major depressive disorder (MDD) has been associated with disruptions in the topological organization of brain morphological networks in group-level data. Such disruptions have not yet been identified in single-patients, which is needed to show relations with symptom severity and to evaluate their potential as biomarkers for illness. To address this issue, we conducted a cross-sectional structural brain network study of 33 treatment-naive, first-episode MDD patients and 33 age-, gender-, and education-matched healthy controls (HCs)...
February 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28176164/whole-brain-high-resolution-structural-connectome-inter-subject-validation-and-application-to-the-anatomical-segmentation-of-the-striatum
#10
Pierre Besson, Nicolas Carrière, S Kathleen Bandt, Marc Tommasi, Xavier Leclerc, Philippe Derambure, Renaud Lopes, Louise Tyvaert
The present study describes extraction of high-resolution structural connectome (HRSC) in 99 healthy subjects, acquired and made available by the Human Connectome Project. Single subject connectomes were then registered to the common surface space to allow assessment of inter-individual reproducibility of this novel technique using a leave-one-out approach. The anatomic relevance of the surface-based connectome was examined via a clustering algorithm, which identified anatomic subdivisions within the striatum...
February 7, 2017: Brain Topography
https://www.readbyqxmd.com/read/28174449/effect-of-sensorimotor-stimulation-on-chronic-stroke-patients-upper-extremity-function-a-preliminary-study
#11
Eun-Ji Go, Sang-Heon Lee
[Purpose] The aim of this study was to investigate the effect of an intensive sensorimotor stimulation program on the motor function of chronic hemiparetic patients. [Subjects and Methods] The subjects were three chronic stroke patients whose sensory function was intact, who had Mini-Mental State Examination - Korean version scores of more than 26, and manual muscle test scores of more than fair for affected shoulder and elbow. The research design was an A-B single subject experimental design. The intervention consisted of 4 baselines phase sessions, and 12 sensorimotor stimulation phase sessions...
December 2016: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28161314/groupwise-structural-parcellation-of-the-whole-cortex-a-logistic-random-effects-model-based-approach
#12
Guillermo Gallardo, William Wells Iii, Rachid Deriche, Demian Wassermann
Current theories hold that brain function is highly related to long-range physical connections through axonal bundles, namely extrinsic connectivity. However, obtaining a groupwise cortical parcellation based on extrinsic connectivity remains challenging. Current parcellation methods are computationally expensive; need tuning of several parameters or rely on ad-hoc constraints. Furthermore, none of these methods present a model for the cortical extrinsic connectivity of the cortex. To tackle these problems, we propose a parsimonious model for the extrinsic connectivity and an efficient parceling technique based on clustering of tractograms...
February 1, 2017: NeuroImage
https://www.readbyqxmd.com/read/28160753/lateralization-of-language-function-in-epilepsy-patients-a-high-density-scalp-derived-event-related-potentials-erp-study
#13
Karin Trimmel, Jens Sachsenweger, Gerald Lindinger, Eduard Auff, Fritz Zimprich, Ekaterina Pataraia
OBJECTIVES: Language functional magnetic resonance imaging (fMRI) represents the clinical standard for language lateralization assessment in presurgical epilepsy evaluation, but still many patients experience postoperative language deficits. Event-related potentials (ERPs), especially the negative component around and after 400ms, are related to language processing and could therefore represent a complementary method of language lateralization assessment. METHODS: Scalp EEG was recorded from 64 locations in 36 epilepsy patients and 37 controls during three visually presented language tasks: A short-term language memory task (differentiation memorized vs...
January 12, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28155591/impact-of-an-implanted-neuroprosthesis-on-community-ambulation-in-incomplete-sci
#14
Lisa M Lombardo, Rudolf Kobetic, Gilles Pinault, Kevin M Foglyano, Stephanie N Bailey, Stephen Selkirk, Ronald J Triolo
OBJECTIVE: Test the effect of a multi-joint control with implanted electrical stimulation on walking after spinal cord injury (SCI). DESIGN: Single subject research design with repeated measures Setting: Hospital-based biomechanics laboratory and user assessment of community use. PARTICIPANTS: Female with C6 AIS C SCI 30 years post injury. INTERVENTIONS: Lower extremity muscle activation with an implanted pulse generator and gait training...
February 3, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28149361/case-study-of-mental-skills-training-for-a-taekwondo-olympian
#15
TaeHee Lim, David Michael O'Sullivan
The purpose of this study was to identify the effect of systematic mental skills training (MST) for a taekwondo gold medallist. Based on MST of other sports, this programme was designed for a single subject who competed in the Olympics. The Korean test of performance strategies, Sport Attributional Style in Korean Athletes, and a few sessions of interviews were applied to investigate the effect of MST. The pre and post-test mean scores of both the Korean test of performance strategies and Sport Attributional Style in Korean Athletes were compared...
April 1, 2016: Journal of Human Kinetics
https://www.readbyqxmd.com/read/28134540/decentering-in-the-process-of-cultivating-mindfulness-an-experience-sampling-study-in-time-and-context
#16
Adi Shoham, Pavel Goldstein, Ravit Oren, David Spivak, Amit Bernstein
OBJECTIVE: Through intensive experience sampling, we studied the practice and development of mindfulness as a dynamic process in time and context. We focused on role(s) and salutary function(s) of mindfulness and decentering for emotional experience over the course of mindfulness practice and development. METHOD: Eighty-two meditation-naive adults from the general community, 52% women, Mage (SD) = 25.05 (3.26) years, participated in a 1-month, 6-session, Mahasi-based mindfulness-training intervention (Mahasi, 1978)...
February 2017: Journal of Consulting and Clinical Psychology
https://www.readbyqxmd.com/read/28122877/an-early-and-late-peak-in-microglial-activation-in-alzheimer-s-disease-trajectory
#17
Zhen Fan, David J Brooks, Aren Okello, Paul Edison
Amyloid-β deposition, neuroinflammation and tau tangle formation all play a significant role in Alzheimer's disease. We hypothesized that there is microglial activation early on in Alzheimer's disease trajectory, where in the initial phase, microglia may be trying to repair the damage, while later on in the disease these microglia could be ineffective and produce proinflammatory cytokines leading to progressive neuronal damage. In this longitudinal study, we have evaluated the temporal profile of microglial activation and its relationship between fibrillar amyloid load at baseline and follow-up in subjects with mild cognitive impairment, and this was compared with subjects with Alzheimer's disease...
January 24, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28116238/multidimensional-cognitive-evaluation-of-patients-with-disorders-of-consciousness-using-eeg-a-proof-of-concept-study
#18
Claire Sergent, Frédéric Faugeras, Benjamin Rohaut, Fabien Perrin, Mélanie Valente, Catherine Tallon-Baudry, Laurent Cohen, Lionel Naccache
The use of cognitive evoked potentials in EEG is now part of the routine evaluation of non-communicating patients with disorders of consciousness in several specialized medical centers around the world. They typically focus on one or two cognitive markers, such as the mismatch negativity or the P3 to global auditory regularity. However it has become clear that none of these markers in isolation is at the same time sufficiently specific and sufficiently sensitive to be taken as the unique gold standard for diagnosing consciousness...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28110090/spatiotemporal-reconstruction-of-auditory-steady-state-responses-to-acoustic-amplitude-modulations-potential-sources-beyond-the-auditory-pathway
#19
Ehsan Darestani Farahani, Tine Goossens, Jan Wouters, Astrid van Wieringen
Investigating the neural generators of auditory steady-state responses (ASSRs), i.e., auditory evoked brain responses, with a wide range of screening and diagnostic applications, has been the focus of various studies for many years. Most of these studies employed a priori assumptions regarding the number and location of neural generators. The aim of this study is to reconstruct ASSR sources with minimal assumptions in order to gain in-depth insight into the number and location of brain regions that are activated in response to low- as well as high-frequency acoustically amplitude modulated signals...
January 18, 2017: NeuroImage
https://www.readbyqxmd.com/read/28108394/unsmoothed-functional-mri-of-the-human-amygdala-and-bed-nucleus-of-the-stria-terminalis-during-processing-of-emotional-faces
#20
Ronald Sladky, Nicole Geissberger, Daniela M Pfabigan, Christoph Kraus, Martin Tik, Michael Woletz, Katharina Paul, Thomas Vanicek, Bastian Auer, Georg S Kranz, Claus Lamm, Rupert Lanzenberger, Christian Windischberger
Functional neuroimaging of the human amygdala has been of great interest to uncover the neural underpinnings of emotions, mood, motivation, social cognition, and decision making, as well as their dysfunction in psychiatric disorders. Yet, several factors limit in vivo imaging of amygdalar function, most importantly its location deep within the temporal lobe adjacent to air-filled cavities that cause magnetic field inhomogeneities entailing signal dropouts. Additionally, the amygdala and the extended amygdalar region consist of several substructures, which have been assigned different functions and have important implications for functional and effective connectivity studies...
January 17, 2017: NeuroImage
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