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https://www.readbyqxmd.com/read/28722101/-gilles-de-la-tourette-syndrome-symptoms-causes-and-therapy
#1
Ewgeni Jakubovski, Kirsten R Müller-Vahl
Gilles de la Tourette syndrome is a chronic neuropsychiatric movement disease with combined motor tics and at least one vocal tic for a minimum period of 1 year. It typically begins in the childhood (under 18 years of age).Most of the patients with Tourette syndrome have comorbidities, which often impair their quality of life more than the tics themselves.There are reported abnormalities in the cortico-striato-thalamo-cortical regions as well as in the neurotransmission of dopamine and other neurotransmission systems...
June 2017: Psychotherapie, Psychosomatik, Medizinische Psychologie
https://www.readbyqxmd.com/read/28720127/parasomnia-overlap-disorder-parkinson-s-disease-and-subthalamic-deep-brain-stimulation-three-case-reports
#2
Panagiotis Bargiotas, Julia Muellner, W M Michael Schuepbach, Claudio L Bassetti
BACKGROUND: Parasomnia overlap disorder (POD) is a distinct parasomnia and characterized by concomitant manifestation of rapid-eye-movement (REM)- and non-REM (NREM)-parasomnias. Although not uncommon among patients with Parkinson's disease, POD is often under-investigated. CASE PRESENTATION: This is the first report of patients with PD and features of POD that underwent deep brain stimulation. Our patients exhibited different outcomes of POD features after subthalamic deep brain stimulation...
July 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#3
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28717636/orthodontic-treatment-for-a-patient-with-multiple-sclerosis
#4
Manal A Bakathir
Multiple sclerosis (MS) is a chronic, autoimmune inflammatory disorder of the central nervous system (CNS) that affects myelinated axons, destroying the myelin and damaging axons to varying degrees. The course of MS is highly varied and unpredictable. Metals used during orthodontic treatment can negatively affect imaging techniques used to diagnose and monitor the progression of MS, while medications used to treat MS can negatively affect orthodontic tooth movement. The present case report highlights some of the challenges encountered during orthodontic treatment of a patient with MS and how to overcome them...
July 2017: Journal of Orthodontic Science
https://www.readbyqxmd.com/read/28717635/the-fabrication-of-a-customized-occlusal-splint-based-on-the-merging-of-dynamic-jaw-tracking-records-cone-beam-computed-tomography-and-cad-cam-digital-impression
#5
Katerina Aslanidou, Chung How Kau, Christos Vlachos, Tayem Abou Saleh
OBJECTIVES: The aim of this case report was to present the procedure of fabricating a customized occlusal splint, through a revolutionary software that combines cone beam computed tomography (CBCT) with jaw motion tracking (JMT) data and superimposes a digital impression. MATERIALS AND METHODS: The case report was conducted on a 46-year-old female patient diagnosed with the temporomandibular disorder. A CBCT scan and an optical impression were obtained. The range of the patient's mandibular movements was captured with a JMT device...
July 2017: Journal of Orthodontic Science
https://www.readbyqxmd.com/read/28717002/human-ribonuclease-h1-resolves-r-loops-and-thereby-enables-progression-of-the-dna-replication-fork
#6
Shankar Parajuli, Daniel C Tealsey, Bhavna Murali, Jessica Jackson, Alessandro Vindigni, Sheila A Stewart
Faithful DNA replication is essential for genome stability. To ensure accurate replication, numerous complex and redundant replication and repair mechanisms function in tandem with the core replication proteins to ensure DNA replication continues even when replication challenges are present that could impede progression of the replication fork. A unique topological challenge to the replication machinery is posed by RNA:DNA hybrids, commonly referred to as R-loops. While R-loops play important roles in gene expression and recombination at immunoglobulin sites, their persistence is thought to interfere with DNA replication by slowing or impeding replication fork progression...
July 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28716975/metabolic-phenotype-in-the-mouse-model-of-osteogenesis-imperfecta
#7
Iris Boraschi-Diaz, Josephine T Tauer, Omar El Rifai, Delphine Guillemette, Geneviève Lefebvre, Frank Rauch, Mathieu Ferron, Svetlana V Komarova
Osteogenesis Imperfecta (OI) is the most common heritable bone fragility disorder, usually caused by dominant mutations in genes coding for collagen type I alpha chains, COL1A1 or COL1A2. Osteocalcin is now recognized as a bone-derived regulator of insulin secretion and sensitivity and glucose homeostasis. Since OI is associated with increased rates of bone formation and resorption, we hypothesized that the levels of undercarboxylated osteocalcin are increased in OI. The objective of this study was to determine changes in osteocalcin and to elucidate the metabolic phenotype in the Col1a1Jrt/+ mouse, a model of dominant OI caused by a Col1a1 mutation...
July 17, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28716772/chewing-induced-facial-dystonia-a-rare-presentation-of-task-specific-dystonia
#8
Chandramohan Sharma, Banshi Lal Kumawat, Ankur Garg, Kaushik Kumar Rana
This case is an addition to scarce literature available for a rare condition, chewing-induced task-specific dystonia. The patient was a 63-year-old woman who presented with a 4-year history of progressive difficulty in eating food only during chewing associated with abnormal facial grimaces without any difficulty in drinking, swallowing, speaking or singing. Examination revealed dystonia of facial muscles every time she chewed but absent during drinking and speaking. As movements were consistent and reproducible with the specific task, other differential diagnosis like motor tics, psychogenic disorder, tardive dystonia and parkinsonism syndrome were excluded leading to a diagnosis of task-specific facial dystonia triggered by chewing...
July 17, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28716706/characterization-of-a-presymptomatic-stage-in-a-drosophila-parkinson-s-disease-model-unveiling-dopaminergic-compensatory-mechanisms
#9
Daniela Molina-Mateo, Nicolás Fuenzalida-Uribe, Sergio Hidalgo, Claudia Molina-Fernández, Jorge Abarca, Rafaella V Zárate, Marcela Escandón, Reinaldo Figueroa, María Florencia Tevy, Jorge M Campusano
Parkinson disease (PD) is a degenerative disorder characterized by several motor symptoms including shaking, rigidity, slow movement and difficult walking, which has been associated to the death of nigro-striatal dopaminergic neurons. >90% of PD patients also present olfactory dysfunction. Although the molecular mechanisms responsible for this disease are not clear, hereditary PD is linked to mutations in specific genes, including the PTEN-induced putative kinase 1 (PINK1). In this work we provide for the first time a thorough temporal description of the behavioral effects induced by a mutation in the PINK1 gene in adult Drosophila, a previously described animal model for PD...
July 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28716322/parkinson-s-disease-and-its-effect-on-the-lower-urinary-tract-evaluation-of-complications-and-treatment-strategies
#10
REVIEW
Benjamin M Brucker, Sidhartha Kalra
Parkinson's disease (PD) and atypical Parkinsonism are the second most common neurodegenerative movement disorders. Lower urinary tract dysfunction is among the most common types of associated autonomic dysfunctions. Differentiating the subtypes of PD is important for symptom management and understanding prognosis, because Lower urinary tract symptoms (LUTS) can evolve differently depending on the primary disease. LUTS are caused by storage and/or voiding dysfunctions. Urodynamics is a key investigative tool...
August 2017: Urologic Clinics of North America
https://www.readbyqxmd.com/read/28715131/transcriptome-analysis-suggests-a-role-for-the-differential-expression-of-cerebral-aquaporins-and-the-mapk-signalling-pathway-in-human-temporal-lobe-epilepsy
#11
Mootaz M Salman, Mariam A Sheilabi, Dev Bhattacharyya, Philip Kitchen, Alex C Conner, Roslyn M Bill, M Nicola Woodroofe, Matthew T Conner, Alessandra P Princivalle
Epilepsies are common disorders of the central nervous system (CNS), affecting up to 2% of the global population. Pharmaco-resistance is a major clinical challenge affecting about 30% of temporal lobe epilepsy (TLE) patients. Water homeostasis has been shown crucial for regulation of neuronal excitability. The control of water movement is achieved through a family of small integral membrane channel proteins called aquaporins (AQPs). Despite the fact that changes in water homeostasis occur in sclerotic hippocampi of people with TLE, the expression of AQPs in the epileptic brain is not fully characterised...
July 17, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28714593/free-water-improves-detection-of-changes-in-the-substantia-nigra-in-parkinsonism-a-multisite-study
#12
Edward Ofori, Florian Krismer, Roxana G Burciu, Ofer Pasternak, Johanna L McCracken, Mechelle M Lewis, Guangwei Du, Nikolaus R McFarland, Michael S Okun, Werner Poewe, Christoph Mueller, Elke R Gizewski, Michael Schocke, Christian Kremser, Hong Li, Xuemei Huang, Klaus Seppi, David E Vaillancourt
BACKGROUND: Imaging markers that are sensitive to parkinsonism across multiple sites are critically needed for clinical trials. The objective of this study was to evaluate changes in the substantia nigra using single- and bi-tensor models of diffusion magnetic resonance imaging in PD, MSA, and PSP. METHODS: The study cohort (n = 425) included 107 healthy controls and 184 PD, 63 MSA, and 71 PSP patients from 3 movement disorder centers. Bi-tensor free water, free-water-corrected fractional anisotropy, free-water-corrected mean diffusivity, single-tensor fractional anisotropy, and single-tensor mean diffusivity were computed for the anterior and posterior substantia nigra...
July 17, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28714555/evidence-that-eye-movement-profiles-do-not-explain-slow-binocular-rivalry-rate-in-bipolar-disorder-support-for-a-perceptual-endophenotype
#13
Phillip Cf Law, Caroline T Gurvich, Trung T Ngo, Steven M Miller
OBJECTIVES: Presenting conflicting images simultaneously, one to each eye, produces perceptual alternations known as binocular rivalry (BR). Slow BR rate has been proposed as an endophenotype for bipolar disorder (BD) for use in large-scale genome-wide association studies. However, the trait could conceivably reflect eye movement (EM) dysfunction in BD rather than anomalous perceptual processing per se. To address this question, we examined the relationship between EM profiles and BR rate for various stimulus types in BD and healthy subjects...
July 17, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28714503/protective-effects-of-fisetin-and-other-berry-flavonoids-in-parkinson-s-disease
#14
REVIEW
Pamela Maher
Parkinson's disease (PD) is an age-associated degenerative disease of the midbrain that results from the loss of dopaminergic neurons in the substantia nigra. It initially presents as a movement disorder with cognitive and other behavioral problems appearing later in the progression of the disease. Current therapies for PD only delay the onset or reduce the motor symptoms. There are no treatments to stop the nerve cell death or to cure the disease. It is becoming increasingly clear that neurological diseases such as PD are multi-factorial involving disruptions in multiple cellular systems...
July 17, 2017: Food & Function
https://www.readbyqxmd.com/read/28714297/inter-and-intra-rater-reliability-and-minimal-detectable-difference-of-movement-disorder-childhood-rating-scale
#15
Giuseppina Sgandurra, Ilaria Olivieri, Manuela Casarano, Roberta DI Pietro, Valentina Menici, Chiara Velli, Francesca Sini, Simona Lucibello, Domenico M Romeo, Giovanni Cioni, Roberta Battini
BACKGROUND: Movement Disorder-Childhood Rating Scales (MD-CRS) have been designed in two forms (0-3 and 4-18 years) to accurately evaluate various movement disorders in children. AIM: The aim of this study is to evaluate the MD-CRS reliability when used by clinicians and professionals of rehabilitation after a one-day training on scoring it. DESIGN: This is a measurement-focused study of video-recorded sessions. SETTING: Video session carried out inpatient and outpatient...
July 13, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28714199/the-effect-of-dopaminergic-medication-on-conflict-adaptation-in-parkinson-s-disease
#16
Marit F L Ruitenberg, Elger L Abrahamse, Patrick Santens, Wim Notebaert
Parkinson's disease (PD) is a neurological disorder associated primarily with motor symptoms such as tremor, slowness of movement, and difficulties with gait and balance. Most patients take dopaminergic medication to improve their motor functions. Previous studies reported indications that such medication can impair higher cognitive functions (cf. dopamine overdose hypothesis). In the present study, we examined the effect of medication status on conflict adaptation. PD patients performed a Stroop task in which we manipulated the proportion of congruent and incongruent items, thereby allowing us to explore conflict adaptation...
July 16, 2017: Journal of Neuropsychology
https://www.readbyqxmd.com/read/28714081/combining-two-model-systems-of-psychosis-the-effects-of-schizotypy-and-sleep-deprivation-on-oculomotor-control-and-psychotomimetic-states
#17
Inga Meyhöfer, Maria Steffens, Eliana Faiola, Anna-Maria Kasparbauer, Veena Kumari, Ulrich Ettinger
Model systems of psychosis, such as schizotypy or sleep deprivation, are valuable in informing our understanding of the etiology of the disorder and aiding the development of new treatments. Schizophrenia patients, high schizotypes, and sleep-deprived subjects are known to share deficits in oculomotor biomarkers. Here, we aimed to further validate the schizotypy and sleep deprivation models and investigated, for the first time, their interactive effects on smooth pursuit eye movements (SPEM), prosaccades, antisaccades, predictive saccades, and measures of psychotomimetic states, anxiety, depression, and stress...
July 17, 2017: Psychophysiology
https://www.readbyqxmd.com/read/28712121/motor-symptom-laterality-affects-acquisition-in-parkinson-s-disease-a-cognitive-and-functional-magnetic-resonance-imaging-study
#18
Pei Huang, Yu-Yan Tan, Dong-Qiang Liu, Mohammad M Herzallah, Elizabeth Lapidow, Ying Wang, Yu-Feng Zang, Mark A Gluck, Sheng-Di Chen
BACKGROUND AND OBJECTIVES: Asymmetric onset of motor symptoms in PD can affect cognitive function. We examined whether motor-symptom laterality could affect feedback-based associative learning and explored its underlying neural mechanism by functional magnetic resonance imaging in PD patients. METHODS: We recruited 63 early-stage medication-naïve PD patients (29 left-onset medication-naïve patients, 34 right-onset medication-naïve patients) and 38 matched normal controls...
July 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28712120/what-would-dr-james-parkinson-think-today-the-21st-annual-congress-of-the-international-parkinson-s-disease-and-movement-disorders-society
#19
Jose A Obeso, Claudia Trenkwalder
No abstract text is available yet for this article.
July 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28709907/the-details-of-structural-disconnectivity-in-psychotic-disorder-a-family-based-study-of-non-fa-diffusion-weighted-imaging-measures
#20
Stijn Michielse, Ed Gronenschild, Patrick Domen, Jim van Os, Machteld Marcelis
BACKGROUND: Diffusion Tensor Imaging (DTI) studies in psychotic disorder have shown reduced FA, often interpreted as disturbed white matter integrity. The observed 'dysintegrity' may be of multifactorial origin, as changes in FA are thought to reflect a combination of changes in myelination, fiber organization and number of axons. Examining the structural substrate of the diffusion tensor in individuals with (risk for) psychotic disorder may provide better understanding of the underlying structural changes...
July 11, 2017: Brain Research
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