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https://www.readbyqxmd.com/read/28339407/upper-extremity-muscle-activation-in-children-with-unilateral-cerebral-palsy-during-an-auditory-cued-repetitive-task-effects-on-bimanual-coordination
#1
Jeanne Charles
PURPOSE: The aim of this exploratory study was to investigate mirror muscle activation in the upper limbs of children with unilateral cerebral palsy during an auditory-cued repetitive squeezing task and to compare upper limb muscle activation patterns to typically developing peers engaged in the same task. METHODS: A convenience sample of six children with unilateral cerebral palsy and six typically developing peers (7-17 y) participated in the study. Muscle activity was measured using a 16 channel Zerowire EMG system (Noraxon, USA Inc...
2017: Journal of Pediatric Rehabilitation Medicine
https://www.readbyqxmd.com/read/28339360/critical-role-of-stir-mri-in-early-detection-of-post-streptococcal-periostitis-with-dysproteinaemia-goldbloom-s-syndrome
#2
Riccardo Papa, Alessandro Consolaro, Francesca Minoia, Roberta Caorsi, Gianmichele Magnano, Marco Gattorno, Angelo Ravelli, Paolo Picco
OBJECTIVES: In 1966, Goldbloom et al. described two children who developed a peculiar clinical picture characterized by intermittent daily bone pain in the lower limbs, fever spikes, increased acute phase reactants and dysproteinaemia. The syndrome occurred two weeks after a group A β-haemolytic streptococcus infection. So far, only a few cases have been reported in the medical literature in English. METHODS: We report two further cases of Goldbloom's syndrome with a review of the literature in English...
March 23, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28335042/acute-sensory-neuronopathy-following-enterovirus-infection-in-a-3-year-old-girl
#3
Chih-Chin Chiu, Chen-Ya Yang, Tsui-Fen Yang, Kon-Ping Lin, Shou-Hsien Huang, Jia-Chi Wang
Acute sensory neuronopathy (SNN) is a rapidly developing peripheral nervous system disease that primarily affects sensory neurons in the dorsal root ganglion or trigeminal ganglion, leading to the impairment of sensory axons. SNN is notably uncommon in childhood; only three cases of childhood or adolescent SNN have been reported to date. Moreover, SSN has never been reported in association with enterovirus infection. Here, we report the case of a 3-year-old girl who was initially diagnosed with enterovirus infection based on the presentation of fevers, rashes on all extremities, and ulceration over the posterior pharynx...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28334780/eif4a3-deficient-human-ipscs-and-mouse-models-demonstrate-neural-crest-defects-that-underlie-richieri-costa-pereira-syndrome
#4
Emily E Miller, Gerson S Kobayashi, Camila M Musso, Miranda Allen, Felipe A A Ishiy, Luiz C de Caires Junior, Ernesto S G Guimarães, Karina Griesi-Oliveira, Roseli M Zechi-Ceide, Antonio Richieri-Costa, Debora R Bertola, Maria Rita Passos-Bueno, Debra L Silver
Biallelic loss-of-function mutations in the RNA binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective Neural Crest Cell (NCC) development explains RCPS craniofacial abnormalities...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333962/different-regulation-of-limb-development-by-p63-transcript-variants
#5
Manabu Kawata, Yuki Taniguchi, Daisuke Mori, Fumiko Yano, Shinsuke Ohba, Ung-Il Chung, Tomomi Shimogori, Alea A Mills, Sakae Tanaka, Taku Saito
The apical ectodermal ridge (AER), located at the distal end of each limb bud, is a key signaling center which controls outgrowth and patterning of the proximal-distal axis of the limb through secretion of various molecules. Fibroblast growth factors (FGFs), particularly Fgf8 and Fgf4, are representative molecules produced by AER cells, and essential to maintain the AER and cell proliferation in the underlying mesenchyme, meanwhile Jag2-Notch pathway negatively regulates the AER and limb development. p63, a transcription factor of the p53 family, is expressed in the AER and indispensable for limb formation...
2017: PloS One
https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#6
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28331891/differentiation-of-arterioles-from-venules-in-mouse-histology-images-using-machine-learning
#7
J Sachi Elkerton, Yiwen Xu, J Geoffrey Pickering, Aaron D Ward
Analysis and morphological comparison of the arteriolar and venular components of a microvascular network are essential to our understanding of multiple diseases affecting every organ system. We have developed and evaluated the first fully automatic software system for differentiation of arterioles from venules on high-resolution digital histology images of the mouse hind limb immunostained with smooth muscle [Formula: see text]-actin. Classifiers trained on statistical and morphological features by supervised machine learning provided useful classification accuracy for differentiation of arterioles from venules, achieving an area under the receiver operating characteristic curve of 0...
April 2017: Journal of Medical Imaging
https://www.readbyqxmd.com/read/28331763/effects-of-clinical-pilates-exercises-on-patients-developing-lymphedema-after-breast-cancer-treatment-a-randomized-clinical-trial
#8
Hülya Özlem Şener, Mehtap Malkoç, Gülbin Ergin, Didem Karadibak, Tuğba Yavuzşen
OBJECTIVE: The aim of the present study was to compare the effects of clinical Pilates exercises with those of the standard lymphedema exercises on lymphedema developing after breast cancer treatment. MATERIALS AND METHODS: The study comprised 60 female patients with a mean age of 53.2±7.7 years who developed lymphedema after having breast cancer treatment. The patients were randomized into two groups: the clinical Pilates exercise group (n=30), and the control group (n=30)...
January 2017: J Breast Health (2013)
https://www.readbyqxmd.com/read/28331017/primary-vertebral-leiomyosarcoma-masquerading-as-a-nerve-sheath-tumour
#9
Irfan Ahmad, Nidhi Goyal, Chandi Prasad Bhatt, Kundan Singh Chufal
A 47-year-old woman presented with symptoms of low back pain and weakness in bilateral lower limbs. MRI of the spine revealed a mass arising from T11 vertebra involving neural foramina at bilateral T11-12 and right T10-11 levels with extension to the right paravertebral region. Suspecting a nerve sheath tumour, she underwent posterior spinal decompression, stabilisation and debulking, following which her neurological symptoms resolved. Histopathological and immunohistochemical evaluation revealed a leiomyosarcoma...
March 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28330991/limb-flexion-induced-twist-and-associated-intramural-stresses-in-the-human-femoropopliteal-artery
#10
Anastasia Desyatova, William Poulson, Paul Deegan, Carol Lomneth, Andreas Seas, Kaspars Maleckis, Jason MacTaggart, Alexey Kamenskiy
High failure rates of femoropopliteal artery (FPA) interventions are often attributed to severe mechanical deformations that occur with limb movement. Torsion of the FPA likely plays a significant role, but is poorly characterized and the associated intramural stresses are currently unknown. FPA torsion in the walking, sitting and gardening postures was characterized in n = 28 in situ FPAs using intra-arterial markers. Principal mechanical stresses and strains were quantified in the superficial femoral artery (SFA), adductor hiatus segment (AH) and the popliteal artery (PA) using analytical modelling...
March 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28330961/reference-values-for-developing-responsive-functional-outcome-measures-across-the-lifespan
#11
Marnee J McKay, Jennifer N Baldwin, Paulo Ferreira, Milena Simic, Natalie Vanicek, Joshua Burns
OBJECTIVE: To generate a reference dataset of commonly performed functional outcome measures in 1,000 children and adults and investigate the influence of demographic, anthropometric, strength, and flexibility characteristics. METHODS: Twelve functional outcome measures were collected from 1,000 healthy individuals aged 3-101 years: 6-minute walk test, 30-second chair stand test, timed stairs test, long jump, vertical jump, choice stepping reaction time, balance (Star Excursion Balance Test, tandem stance eyes open and closed, single-leg stance eyes closed), and dexterity (9-hole peg test, Functional Dexterity Test)...
March 22, 2017: Neurology
https://www.readbyqxmd.com/read/28330877/k-channel-modulatory-subunits-kchip-and-dpp-participate-in-kv4-mediated-mechanical-pain-control
#12
Yen-Ling Kuo, Jen-Kun Cheng, Wen-Hsien Hou, Yu-Cheng Chang, Po-Hao Du, Jhao-Jun Jian, Ruey-Horng Rau, Jung-Hui Yang, Cheng-Chang Lien, Meei-Ling Tsaur
The K(+) channel pore-forming subunit Kv4.3 is expressed in a subset of non-peptidergic nociceptors within the dorsal root ganglion (DRG), and knockdown of Kv4.3 selectively induces mechanical hypersensitivity, a major symptom of neuropathic pain. K(+) channel modulatory subunits KChIP1, KChIP2 and DPP10 are coexpressed in Kv4.3(+) DRG neurons, but whether they participate in Kv4.3-mediated pain control is unknown. Here, we show the existence of a Kv4.3/KChIP1/KChIP2/DPP10 complex (abbreviated as the Kv4 complex) in the endoplasmic reticulum and cell surface of DRG neurons...
March 22, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28330787/acute-impact-of-caffeinated-alcoholic-beverages-on-cognition-a-systematic-review
#13
REVIEW
Laurence Lalanne, Pierre-Eric Lutz, François Paille
INTRODUCTION: Energy drinks are popular beverages that are supposed to counteract sleepiness, increase energy, maintain alertness and reduce symptoms of hangover. Cognitive enhancing seems to be related to many compounds such as caffeine, taurine and vitamins. Currently, users mostly combine psychostimulant effects of energy drinks to counteract sedative effects of alcohol. However, recent literature suggests that this combination conducts to feel less intoxicated but still impaired. The goal of the present article is to review cognitive impact and subjective awareness in case of caffeinated alcoholic beverage (CAB) intoxication...
March 19, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28329332/excessive-daytime-sleepiness-predicts-neurodegeneration-in-idiopathic-rem-sleep-behavior-disorder
#14
Junying Zhou, Jihui Zhang, Siu Ping Lam, Joey Wy Chan, Vincent Mok, Anne Chan, Shirley Xin Li, Yaping Liu, Xiangdong Tang, Wing Ho Yung, Yun Kwok Wing
Study Objectives: To determine the association of excessive daytime sleepiness (EDS) with the conversion of neurodegenerative diseases in patients with idiopathic REM sleep behavior disorder (iRBD). Methods: A total of 179 patients with iRBD (79.1% males, mean age = 66.3 ± 9.8 years) were consecutively recruited. Forty-five patients with Epworth Sleepiness Scale score ≥ 14 were defined as having EDS. Demographic, clinical and polysomnographic data were compared between iRBD patients with and without EDS...
March 16, 2017: Sleep
https://www.readbyqxmd.com/read/28329254/periodic-limb-movements-and-white-matter-hyperintensities-in-first-ever-minor-stroke-or-high-risk-tia
#15
Mark I Boulos, Brian J Murray, Ryan T Muir, Fuqiang Gao, Gregory M Szilagyi, Menal Huroy, Alexander Kiss, Arthur S Walters, Sandra E Black, Andrew S Lim, Richard H Swartz
Study Objectives: Emerging evidence suggests that periodic limb movements (PLMs) may contribute to the development of cerebrovascular disease. White matter hyperintensities (WMHs), a widely accepted biomarker for cerebral small vessel disease, are associated with incident stroke and death. We evaluated the association between increased PLM indices and WMH burden in patients presenting with stroke or transient ischemic attack (TIA), while controlling for vascular risk factors and stroke severity...
December 29, 2016: Sleep
https://www.readbyqxmd.com/read/28328714/somatic-profile-of-the-elite-boulderers-in-poland
#16
Mariusz Ozimek, Marcin Krawczyk, Emilian Zadarko, Zbigniew Barabasz, Tadeusz Ambroży, Arkadiusz Stanula, Dawid K Mucha, Adam Jurczak, Dariusz Mucha
Ozimek, M, Krawczyk, M, Zadarko, E, Barabasz, Z, Ambroży, T, Stanula, A, Mucha, DK, Jurczak, A, and Mucha, D. Somatic profile of the elite boulderers in Poland. J Strength Cond Res 31(4): 963-970, 2017-The study was designed to determine the values of selected somatic characteristics, body proportions, and the somatotype of elite bouldering climbers in Poland and to establish the relationships between the values of the somatic characteristics and climber's performance in bouldering. The study was conducted in a group of elite sport climbers (n = 10) who were ranked by the Polish Mountaineering Association in 2011, 2012, and 2013...
April 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28327505/technical-aspects-and-validation-of-a-new-biofeedback-system-for-measuring-lower-limb-loading-in-the-dynamic-situation
#17
Marco Raaben, Herman R Holtslag, Robin Augustine, Rutger O van Merkerk, Bart F J M Koopman, Taco J Blokhuis
BACKGROUND: A variety of techniques for measuring lower limb loading exists, each with their own limitations. A new ambulatory biofeedback system was developed to overcome these limitations. In this study, we described the technical aspects and validated the accuracy of this system. METHODS: A bench press was used to validate the system in the static situation. Ten healthy volunteers were measured by the new biofeedback system and a dual-belt instrumented treadmill to validate the system in the dynamic situation...
March 22, 2017: Sensors
https://www.readbyqxmd.com/read/28327299/subject-specific-musculoskeletal-modeling-in-the-evaluation-of-shoulder-muscle-and-joint-function
#18
Wen Wu, Peter V S Lee, Adam L Bryant, Mary Galea, David C Ackland
Upper limb muscle force estimation using Hill-type muscle models depends on musculotendon parameter values, which cannot be readily measured non-invasively. Generic and scaled-generic parameters may be quickly and easily employed, but these approaches do not account for an individual subject's joint torque capacity. The objective of the present study was to develop a subject-specific experimental testing and modeling framework to evaluate shoulder muscle and joint function during activities of daily living, and to assess the capacity of generic and scaled-generic musculotendon parameters to predict muscle and joint function...
November 7, 2016: Journal of Biomechanics
https://www.readbyqxmd.com/read/28326439/a-distinct-functional-distribution-of-%C3%AE-and-%C3%AE-motoneurons-in-the-rat-trigeminal-motor-nucleus
#19
Yukako Morita-Isogai, Hajime Sato, Mitsuru Saito, Eriko Kuramoto, Dong Xu Yin, Takeshi Kaneko, Takashi Yamashiro, Kenji Takada, Seog Bae Oh, Hiroki Toyoda, Youngnam Kang
Gamma-motoneurons (γMNs) play a crucial role in regulating isometric muscle contraction. The slow jaw-closing during mastication is one of the most functional isometric contractions, which is developed by the rank-order recruitment of alpha-motoneurons (αMNs) in a manner that reflects the size distribution of αMNs. In a mouse spinal motor nucleus, there are two populations of small and large MNs; the former was identified as a population of γMNs based on the positive expression of the transcription factor estrogen-related receptor 3 (Err3) and negative expression of the neuronal DNA-binding protein NeuN, and the latter as that of αMNs based on the opposite pattern of immunoreactivity...
March 22, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28325753/mouse-model-for-inherited-renal-fibrosis-associated-with-endoplasmic-reticulum-stress
#20
Sian E Piret, Eric Olinger, Anita A C Reed, M Andrew Nesbit, Tertius A Hough, Liz Bentley, Olivier Devuyst, Roger Cox, Rajesh V Thakker
Renal fibrosis is a common feature of renal failure resulting from multiple aetiologies, including diabetic nephropathy, hypertension and inherited renal disorders. However, the mechanisms of renal fibrosis are incompletely understood and we therefore explored these by establishing a mouse model for a renal tubular disorder, referred to as autosomal dominant tubulointerstitial kidney disease (ADTKD) due to missense uromodulin (UMOD) mutations (ADTKD-UMOD). ADTKD-UMOD, which is associated with retention of mutant uromodulin in the endoplasmic reticulum (ER) of renal thick ascending limb cells, is characterized by hyperuricemia, interstitial fibrosis, inflammation, and renal failure, and we used targeted homologous recombination to generate a knock-in mouse model with an ADTKD-causing missense cysteine to arginine uromodulin mutation (C125R)...
March 21, 2017: Disease Models & Mechanisms
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