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https://www.readbyqxmd.com/read/29244957/hypercementosis-associated-with-enpp1-mutations-and-gaci
#1
V Thumbigere-Math, A Alqadi, N I Chalmers, M B Chavez, E Y Chu, M T Collins, C R Ferreira, K FitzGerald, R I Gafni, W A Gahl, K S Hsu, M S Ramnitz, M J Somerman, S G Ziegler, B L Foster
Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (Pi) and pyrophosphate (PPi). Three regulators that control pericellular concentrations of Pi and PPi include tissue-nonspecific alkaline phosphatase (TNAP), progressive ankylosis protein (ANK), and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Inactivation of these factors results in mineralization disorders affecting teeth and their supporting structures. This study for the first time analyzed the effect of decreased PPi on dental development in individuals with generalized arterial calcification of infancy (GACI) due to loss-of-function mutations in the ENPP1 gene...
December 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29244892/alterations-in-the-masticatory-system-in-patients-with-amyotrophic-lateral-sclerosis
#2
Nina Riera-Punet, Jordi Martinez-Gomis, Andrés Paipa, Monica Povedano, Maria Peraire
AIMS: To determine the effect of amyotrophic lateral sclerosis (ALS) on aspects of masticatory function and to assess the relationship between ALS and the prevalence of traumatic mucosal lesions caused by oral self-injury. METHODS: A total of 153 ALS patients and 23 control subjects participated in this cross-sectional study. Clinical characteristics including site of onset, medication, type of feeding, and use of noninvasive mechanical ventilation were recorded...
December 15, 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/29244239/motor-sequence-awareness-in-impaired-in-dystonia-despite-normal-performance
#3
Molly J Jaynes, Jonathan W Mink
OBJECTIVE: Dystonia is a movement disorder that has been associated with impaired motor learning and sequence recognition. However, despite evidence that patients with dystonia have a reduced sense of agency, it is unclear whether dystonia is specifically associated with impaired recognition of a movement sequence. We have shown previously that performance consistency in the temporal and kinematic domains predicts awareness of underlying motor patterns in a finger tapping task. Because movements in dystonia are characterized by high variability, we predicted that subjects with dystonia would have decreased motor sequence awareness...
December 15, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29244231/differences-in-regional-grey-matter-volumes-in-currently-ill-patients-with-anorexia-nervosa
#4
Andrea Phillipou, Susan Lee Rossell, Caroline Gurvich, David Jonathan Castle, Larry Allen Abel, Richard Grant Nibbs, Matthew Edward Hughes
Neurobiological findings in anorexia nervosa (AN) are inconsistent, including differences in regional grey matter volumes. Methodological limitations often contribute to the inconsistencies reported. The aim of this study was to improve on these methodologies by utilising voxel based morphometry (VBM) analysis with the use of diffeomorphic anatomic registration through an exponentiated lie algebra algorithm (DARTEL), in a relatively large group of individuals with AN. Twenty-six individuals with AN and 27 healthy controls underwent a T1-weighted magnetic resonance imaging (MRI) scan...
December 15, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29243034/application-of-pyridostigmine-in-pediatric-gastrointestinal-motility-disorders-a-case-series
#5
Mhd Louai Manini, Michael Camilleri, Rayna Grothe, Carlo Di Lorenzo
BACKGROUND: Gastrointestinal (GI) motility disorders are common in children. Treatment is challenging with limited medical and surgical options. Pyridostigmine, an acetyl cholinesterase inhibitor, increases acetylcholine at the neuromuscular junction promoting intestinal contractions. Little is known about the role and dosing of pyridostigmine in pediatric GI motility disorders. METHODS: We present a case series of children with GI dysmotility managed with oral pyridostigmine...
December 14, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/29242310/approaches-to-neuromodulation-for-schizophrenia
#6
REVIEW
Judith M Gault, Rachel Davis, Nicola G Cascella, Elyn R Saks, Iluminada Corripio-Collado, William S Anderson, Ann Olincy, John A Thompson, Edith Pomarol-Clotet, Akira Sawa, Zafiris J Daskalakis, Nir Lipsman, Aviva Abosch
Based on the success of deep brain stimulation (DBS) for treating movement disorders, there is growing interest in using DBS to treat schizophrenia (SZ). We review the unmet needs of patients with SZ and the scientific rationale behind the DBS targets proposed in the literature in order to guide future development of DBS to treat this vulnerable patient population. SZ remains a devastating disorder despite treatment. Relapse, untreated psychosis, intolerable side effects and the lack of effective treatment for negative and cognitive symptoms contribute to poor outcome...
December 14, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29241654/ginsenoside-rb1-confers-neuroprotection-via-promotion-of-glutamate-transporters-in-a-mouse-model-of-parkinson-s-disease
#7
Yun-Long Zhang, Yan Liu, Xin-Pan Kang, Chun-Yan Dou, Ren-Gong Zhuo, Shu-Qiong Huang, Li Peng, Lei Wen
Ginsenoside Rb1 has been demonstrated to protect dopaminergic (DA) neurons from death in vitro. However, the neuroprotective effects and underlying mechanism of Rb1 in treating Parkinson's disease (PD) remain uncharacterized. In this study, we explored the effects of Rb1 on the movement disorder and the underlying mechanisms based on the glutamatergic transmission and excitotoxicity in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) mouse model of PD. Here, for the first time, we report that Rb1 treatment ameliorates motor deficits, prevents DA neuron death, and suppresses α-synuclein expression and astrogliosis in the MPTP mouse model of PD...
December 12, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/29241417/neuropsychiatric-manifestations-are-not-uncommon-in-indian-lupus-patients-and-negatively-affect-quality-of-life
#8
H Muhammed, M Goyal, V Lal, S Singh, V Dhir
Objectives The objectives of this paper are to look at the prevalence of neuropsychiatric manifestations and assess their impact on quality of life in North Indian lupus patients. Methods The study included consecutive patients with systemic lupus erythematosus (SLE) who were older than 18 years and met the SLICC 2012 criteria. A diagnosis of a neuropsychiatric syndrome was made as per ACR 1999 definitions. Manifestations occurring at any point in time after the diagnosis of SLE were considered if a reliable history and medical records were available...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/29240517/sensory-processing-patterns-in-autism-attention-deficit-hyperactivity-disorder-and-typical-development
#9
Lauren M Little, Evan Dean, Scott Tomchek, Winnie Dunn
AIMS: The purpose of this study was to examine sensory processing in children ages 3-14 years with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and typical development (TD) using the Sensory Profile 2nd Edition (Dunn, 2014). METHODS: Participants included 239 children (ASD = 77; ADHD = 78; TD = 84) matched on age and gender. Multivariate analysis of covariance was used to compare the extent to which the three grsoups differed on sensory processing patterns (i...
December 14, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/29240042/range-of-motion-limitations-of-the-upper-body-in-obese-female-workers
#10
Nicola Cau, Veronica Cimolin, Luisa Brugliera, Giuseppe Ventura, Manuela Galli, Paolo Capodaglio
BACKGROUND: The prevalence of obesity is increasing worldwide, and the economic consequences of an increased percentage of obese workers are relevant in terms of health costs and absences from work. Obesity is associated with reduced participation in the workforce, increased absence from work, disability and health costs, lower salaries and reduced productivity. OBJECTIVES: We aimed at quantifying the limitations in range of motion (ROM) of the upper limb and the trunk of obese workers during basic occupational tasks...
December 14, 2017: La Medicina del Lavoro
https://www.readbyqxmd.com/read/29239047/does-the-amount-of-lower-extremity-movement-variability-differ-between-injured-and-uninjured-populations-a-systematic-review
#11
REVIEW
Samuel R Baida, Shane J Gore, Andrew D Franklyn-Miller, Kieran A Moran
Movement variability during repetitive performance of a dynamic activity (e.g. running, jumping, kicking) is considered an integral characteristic of optimal movement execution, however, it's relationship with musculoskeletal injury is not known. The primary aim of this paper was to review published comparison trials to determine if movement variability differs between uninjured controls and subjects with a lower limb musculoskeletal injury. A systematic search of online databases; Medline, Sports Discus, Scopus and Web of Science was conducted from July to November 2016...
December 14, 2017: Scandinavian Journal of Medicine & Science in Sports
https://www.readbyqxmd.com/read/29236903/ultrasound-analysis-of-tongue-contour-for-the-sound-j-in-adults-and-children
#12
Luciana da Silva Barberena, Simone Nicolini de Simoni, Rosalina Correa Sobrinho de Souza, Denis Altieri de Oliveira Moraes, Larissa Cristina Berti, Márcia Keske-Soares
PURPOSE: Analyze and compare the mean tongue contours and articulatory gestures in the production of the sound [j] in adults and children with typical and atypical speech development. The children with atypical development presented speech sound disorders. METHODS: The diagnosis was determined by speech assessments. The study sample was composed of 90 individuals divided into three groups: 30 adults with typical speech development aged 19-44 years (AT), 30 children with typical speech development (CT), and 30 children with speech sound disorders, named as atypical in this study, aged four years to eight years and eleven months (CA)...
December 11, 2017: CoDAS
https://www.readbyqxmd.com/read/29236528/role-of-clinical-neuropsychology-in-deep-brain-stimulation-review-of-the-literature-and-considerations-for-clinicians
#13
Joseph A Mole, Simon J Prangnell
Deep Brain Stimulation (DBS) is an effective surgical therapy for several neurological movement disorders. The clinical neuropsychologist has a well-established role in the neuropsychological evaluation and selection of surgical candidates. In this article, we argue that the clinical neuropsychologist's role is much broader, when considered in relation to applied psychologists' core competencies. We consider the role of the clinical neuropsychologist in DBS in relation to: assessment, formulation, evaluation and research, intervention or implementation, and communication...
December 13, 2017: Applied Neuropsychology. Adult
https://www.readbyqxmd.com/read/29236052/micrornas-in-parkinson-s-disease-from-pathogenesis-to-novel-diagnostic-and-therapeutic-approaches
#14
REVIEW
Loredana Leggio, Silvia Vivarelli, Francesca L'Episcopo, Cataldo Tirolo, Salvo Caniglia, Nunzio Testa, Bianca Marchetti, Nunzio Iraci
Parkinson's disease (PD) is the most prevalent central nervous system (CNS) movement disorder and the second most common neurodegenerative disease overall. PD is characterized by the progressive loss of dopaminergic (DAergic) neurons in the substantia nigra pars compacta (SNpc) within the midbrain, accumulation of alpha-synuclein (α-SYN) in Lewy bodies and neurites and excessive neuroinflammation. The neurodegenerative processes typically begin decades before the appearance of clinical symptoms. Therefore, the diagnosis is achievable only when the majority of the relevant DAergic neurons have already died and for that reason available treatments are only palliative at best...
December 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29235907/a-validation-study-of-fitbit-charge-2%C3%A2-compared-with-polysomnography-in-adults
#15
Massimiliano de Zambotti, Aimee Goldstone, Stephanie Claudatos, Ian M Colrain, Fiona C Baker
We evaluated the performance of a consumer multi-sensory wristband (Fitbit Charge 2™), against polysomnography (PSG) in measuring sleep/wake state and sleep stage composition in healthy adults. In-lab PSG and Fitbit Charge 2™ data were obtained from a single overnight recording at the SRI Human Sleep Research Laboratory in 44 adults (19-61 years; 26 women; 25 Caucasian). Participants were screened to be free from mental and medical conditions. Presence of sleep disorders was evaluated with clinical PSG...
December 13, 2017: Chronobiology International
https://www.readbyqxmd.com/read/29235446/optimized-programming-algorithm-for-cylindrical-and-directional-deep-brain-stimulation-electrodes
#16
Daria Nesterovich Anderson, Braxton Osting, Johannes Vorwerk, Alan Chuck Dorval, Christopher R Butson
 Deep brain stimulation (DBS) is a growing treatment option for movement and psychiatric disorders. As DBS technology moves toward directional leads with increased numbers of smaller electrode contacts, trial-and-error methods of manual DBS programming are becoming too time-consuming for clinical feasibility. We propose an algorithm to automate DBS programming in near real-time for a wide range of DBS lead designs. Approach: Magnetic resonance imaging and diffusion tensor imaging are used to build finite element models that include anisotropic conductivity...
December 13, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/29234901/upper-limb-function-in-children-with-attention-deficit-hyperactivity-disorder-adhd
#17
Elizabeth Hotham, Miranda Haberfield, Susan Hillier, Jason M White, Gabrielle Todd
Upper limb function was investigated in children with ADHD using objective methods. We hypothesised that children with ADHD exhibit abnormal dexterity, force application during manipulation of a novel object, and movement rhythmicity. Two groups of age- and gender-matched children were investigated: 35 typically developing children (controls, 10.5 ± 0.4 years, 32M-3F) and 29 children (11.5 ± 0.5 years, 27M-2F) with formally diagnosed ADHD according to DSM-IV-TR criteria. Participants underwent a series of screening tests and tests of upper limb function while "off" medication...
December 12, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29234278/effects-of-social-defeat-stress-on-sleep-in-mice
#18
Fiona Henderson, Vincent Vialou, Salah El Mestikawy, Véronique Fabre
Stress plays a key role in the development of psychiatric disorders and has a negative impact on sleep integrity. In mice, chronic social defeat stress (CSDS) is an ethologically valid model of stress-related disorders but little is known about its effects on sleep regulation. Here, we investigated the immediate and long-term effects of 10 consecutive days of social defeat (SD) on vigilance states in C57Bl/6J male mice. Social behavior was assessed to identify susceptible mice, i.e., mice that develop long-lasting social avoidance, and unsusceptible mice...
2017: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29233880/autophagy-impairment-in-parkinson-s-disease
#19
REVIEW
Cansu Karabiyik, Min Jae Lee, David C Rubinsztein
Parkinson's disease (PD) is a debilitating movement disorder typically associated with the accumulation of intracytoplasmic aggregate prone protein deposits. Over recent years, increasing evidence has led to the suggestion that the mutations underlying certain forms of PD impair autophagy. Autophagy is a degradative pathway that delivers cytoplasmic content to lysosomes for degradation and represents a major route for degradation of aggregated cellular proteins and dysfunctional organelles. Autophagy up-regulation is a promising therapeutic strategy that is being explored for its potential to protect cells against the toxicity of aggregate-prone proteins in neurodegenerative diseases...
December 12, 2017: Essays in Biochemistry
https://www.readbyqxmd.com/read/29232183/loss-of-substantia-nigra-hyperintensity-at-3-0-t-mr-imaging-in-idiopathic-rem-sleep-behavior-disorder-comparison-with-123i-fp-cit-spect
#20
Yun Jung Bae, Jong-Min Kim, Kyeong Joon Kim, Eunhee Kim, Hyun Soo Park, Seo Young Kang, In-Young Yoon, Jee-Young Lee, Beomseok Jeon, Sang Eun Kim
Purpose To examine whether the loss of nigral hyperintensity (NH) on 3.0-T susceptibility-weighted (SW) magnetic resonance (MR) images can help identify high synucleinopathy risk in patients with idiopathic rapid eye movement sleep behavior disorder (iRBD). Materials and Methods Between March 2014 and April 2015, 18 consecutively recruited patients with iRBD were evaluated with 3.0-T SW imaging and iodine 123-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl)-nortropane (123I-FP-CIT) single photon emission computed tomography and compared with 18 healthy subjects and 18 patients with Parkinson disease (PD)...
December 12, 2017: Radiology
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