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https://www.readbyqxmd.com/read/28922056/secondary-defects-detected-by-transmission-electron-microscopy-in-primary-ciliary-dyskinesia-diagnostics
#1
Mellisa Dixon, Amelia Shoemark
Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessively inherited condition that affects ~1 in 15,000 people. Diagnosis of PCD can be complex and is ordinarily based on the results of multiple investigations. These investigations include nasal nitric oxide, high-speed video microscopy, genotyping, and electron microscopy analysis of ciliary ultrastructure. A diagnosis is ultimately confirmed by the presence of a hallmark defect identified by transmission electron microscopy or biallelic variants in a known PCD gene...
September 18, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28922052/applications-of-emerging-transmission-electron-microscopy-technology-in-pcd-research-and-diagnosis
#2
Amelia Shoemark
Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic condition characterized by dysfunction of motile cilia. Patients suffer from chronic infection and inflammation of the upper and lower respiratory tract. Diagnosis of PCD is confirmed by identification of a hallmark defect of ciliary ultrastructure or by identification of biallelic pathogenic mutations in a known PCD gene. Since the first description of PCD in 1976, assessment of ciliary ultrastructure by transmission electron microscopy (TEM) has been central to diagnosis and research...
September 18, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28919765/scopolamine-alleviates-involuntary-lingual-movements-tardive-dyskinesia-or-dystonia
#3
Jianbo Hu, Jianbo Lai, Shaohua Hu, Yi Xu
Cholinergic hypofunction was believed to be associated with the pathogenesis of tardive dyskinesia, and therefore, anticholinergic treatment might exacerbate the condition. We describe herein a middle-aged male with feeble chewing movements, involuntary rolling motions of the tongue, and abnormally tightened cheeks which developed after consuming different psychotropic medications. These symptoms did not improve after routine treatment for tardive dyskinesia, but responded well to anticholinergic agents, such as scopolamine and benzhexol hydrochloride...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28917506/the-plasmalogen-precursor-analog-ppi-1011-reduces-the-development-of-l-dopa-induced-dyskinesias-in-de-novo-mptp-monkeys
#4
Mélanie Bourque, Laurent Grégoire, Thérèse Di Paolo
The gold standard therapy for Parkinson's disease (PD), L-3,4-dihydroxyphenylalanine (L-DOPA), induces dyskinesias in the majority of patients after years of treatment. Ethanolamine plasmalogens (PlsEtn) play critical roles in membrane structure mediated functions and as a storage depot of polyunsaturated fatty acids such as docosahexaenoic acid. We previously showed that a PlsEtn precursor PPI-1011 reduced already established L-DOPA-induced dyskinesias (LID) in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) lesioned monkeys as a PD model...
September 13, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28915672/an-updated-meta-analysis-of-amantadine-for-treating-dyskinesia-in-parkinson-s-disease
#5
Min Kong, Maowen Ba, Chao Ren, Ling Yu, Shengjie Dong, Guoping Yu, Hui Liang
In recent years, a few of randomized controlled trials (RCTs) about amantadine for treating dyskinesia in Parkinson's disease (PD) were completed. Here, we conducted a systematic literature review about the clinical research to provide the updated evidence for treating dyskinesia. Electronic search of Medline, PubMed, Cochrane Library, and other databases up to May 2016 for relevant studies was performed. We selected the Unified Parkinson's Disease Rating Scale IV (UPDRS IV) and Dyskinesia Rating Scales (DRS) as efficacy outcomes of amantadine on dyskinesia...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28915070/value-of-transmission-electron-microscopy-for-primary-ciliary-dyskinesia-diagnosis-in-the-era-of-molecular-medicine-genetic-defects-with-normal-and-non-diagnostic-ciliary-ultrastructure
#6
Adam J Shapiro, Margaret W Leigh
Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, but 30% of all PCD cases have either normal ciliary ultrastructure or subtle changes which are non-diagnostic. These cases are identified through alternate diagnostic tests, including nasal nitric oxide measurement, high-speed videomicroscopy analysis, immunofluorescent staining of axonemal proteins, and/or mutation analysis of various PCD causing genes...
September 15, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28913772/weight-gain-after-subthalamic-nucleus-deep-brain-stimulation-in-parkinson-s-disease-is-influenced-by-dyskinesias-reduction-and-electrodes-position
#7
Roberta Balestrino, Damiano Baroncini, Mario Fichera, Carmine Antonio Donofrio, Alberto Franzin, Pietro Mortini, Giancarlo Comi, Maria Antonietta Volontè
Parkinson's disease is a common neurodegenerative disease that can be treated with pharmacological or surgical therapy. Subthalamic nucleus (STN) deep brain stimulation is a commonly used surgical option. A reported side effect of STN-DBS is weight gain: the aim of our study was to find those factors that determine weight gain, through one year-long observation of 32 patients that underwent surgery in our centre. During the follow-up, we considered: anthropometric features, hormonal levels, motor outcome, neuropsychological and quality of life outcomes, therapeutic parameters and electrodes position...
September 14, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28911049/aberrant-hyperconnectivity-in-the-motor-system-at-rest-is-linked-to-motor-abnormalities-in-schizophrenia-spectrum-disorders
#8
Sebastian Walther, Katharina Stegmayer, Andrea Federspiel, Stephan Bohlhalter, Roland Wiest, Petra V Viher
Motor abnormalities are frequently observed in schizophrenia and structural alterations of the motor system have been reported. The association of aberrant motor network function, however, has not been tested. We hypothesized that abnormal functional connectivity would be related to the degree of motor abnormalities in schizophrenia. In 90 subjects (46 patients) we obtained resting stated functional magnetic resonance imaging (fMRI) for 8 minutes 40 seconds at 3T. Participants further completed a motor battery on the scanning day...
September 1, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28904985/cholinergic-activity-and-levodopa-induced-dyskinesia-a-multitracer-molecular-imaging-study
#9
Joachim Brumberg, Sebastian Küsters, Ehab Al-Momani, Giorgio Marotta, Kelly P Cosgrove, Christopher H van Dyck, Ken Herrmann, György A Homola, Gianni Pezzoli, Andreas K Buck, Jens Volkmann, Samuel Samnick, Ioannis U Isaias
OBJECTIVE: To investigate the association between levodopa-induced dyskinesias and striatal cholinergic activity in patients with Parkinson's disease. METHODS: This study included 13 Parkinson's disease patients with peak-of-dose levodopa-induced dyskinesias, 12 nondyskinetic patients, and 12 healthy controls. Participants underwent 5-[(123)I]iodo-3-[2(S)-2-azetidinylmethoxy]pyridine single-photon emission computed tomography, a marker of nicotinic acetylcholine receptors, [(123)I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)nortropane single-photon emission computed tomography, to measure dopamine reuptake transporter density and 2-[(18)F]fluoro-2-deoxyglucose positron emission tomography to assess regional cerebral metabolic activity...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904507/adjunctive-melatonin-for-tardive-dyskinesia-in-patients-with-schizophrenia-a-meta-analysis
#10
Chen-Hui Sun, Wei Zheng, Xin-Hu Yang, Dong-Bin Cai, Chee H Ng, Gabor S Ungvari, Hai-Yan Li, Yu-Jie Wu, Yu-Ping Ning, Yu-Tao Xiang
BACKGROUND: Tardive dyskinesia (TD) is characterized by abnormal and involuntary movements. Importantly, TD could cause considerable personal suffering and social and physical disabilities. AIMS: This meta-analysis based on randomized controlled trials (RCTs) systematically assessed the therapeutic effect and tolerability of melatonin for TD in schizophrenia. METHODS: A computerized and systematical search of both Chinese (Wanfang Data, Chinese National Knowledge Infrastructure (CNKI), SINOMED) and English (PubMed, PsycINFO, Embase, Cochrane Library databases) databases, from their inception until June 8, 2017, was conducted by two independent authors...
June 25, 2017: Shanghai Archives of Psychiatry
https://www.readbyqxmd.com/read/28904448/surgical-treatment-of-levodopa-induced-dyskinesia-in-parkinson-s-disease
#11
Syam Krishnan, Krishnakumar Kesava Pisharady
The treatment of motor manifestations of Parkinson's disease (PD) is essentially a trade-off between adequate relief of motor symptoms and prevention and control of motor complications, particularly levodopa-induced dyskinesia (LID). Progression of PD is paralleled by a progressive difficulty in achieving the balance. Functional neurosurgical procedures provide sustained relief of LID in carefully selected patients when further tailoring of medical therapy fails to achieve this goal. Though deep brain stimulation (DBS) has superseded lesioning surgeries, pallidotomy still has a role in those patients in whom DBS is not feasible for financial or other reasons...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28904447/levodopa-induced-dyskinesia-clinical-features-pathophysiology-and-medical-management
#12
Sanjay Pandey, Prachaya Srivanitchapoom
Levodopa-induced dyskinesia (LID) is commonly seen in Parkinson's disease patients treated with levodopa. This side effect is usually encountered after long duration of treatment, but occasionally, this may be seen even after few days or months of treatment. LID is broadly classified as peak-dose dyskinesia, wearing-off or off-period dyskinesia, and diphasic dyskinesia. Pathogenesis of LID is complex, and different neurotransmitters such as dopamine, glutamine, adenosine, and gamma-aminobutyric acid play important role altering the normal physiology of direct and indirect pathway of cortico-basal ganglia-thalamic loop responsible for fine motor control...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28895769/the-cost-effectiveness-of-levodopa-carbidopa-intestinal-gel-compared-to-standard-care-in-advanced-parkinson-s-disease
#13
Julia Lowin, Kavita Sail, Rakhi Baj, Yash J Jalundhwala, Thomas S Marshall, Henrietta Konwea, K R Chaudhuri
BACKGROUND: Parkinson's disease (PD) is an incurable, progressive neurological condition, with symptoms impacting movement, walking and posture that eventually become severely disabling. Advanced PD (aPD) has a significant impact on quality of life (QoL) for patients, their caregivers/families. Levodopa/carbidopa intestinal gel (LCIG) is indicated for the treatment of advanced levodopa-responsive PD with severe motor fluctuations and hyper-/dyskinesia when available combinations of therapy have not given satisfactory results...
September 12, 2017: Journal of Medical Economics
https://www.readbyqxmd.com/read/28894478/diagnosis-of-primary-ciliary-dyskinesia-summary-of-the-ers-task-force-report
#14
Claudia E Kuehni, Jane S Lucas
KEY POINTS: Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no "gold standard" diagnostic test for PCD.The European Respiratory Society (ERS) Task Force Guidelines for diagnosing PCD recommend that patients should be referred for diagnostic testing if they have several of the following features: persistent wet cough; situs anomalies; congenital cardiac defects; persistent rhinitis; chronic middle ear disease with or without hearing loss; or a history, in term infants, of neonatal upper and lower respiratory symptoms or neonatal intensive care admission...
September 2017: Breathe
https://www.readbyqxmd.com/read/28893517/differential-effects-of-levodopa-and-apomorphine-on-neuronal-population-oscillations-in-the-cortico-basal-ganglia-loop-circuit-in-vivo-in-experimental-parkinsonism
#15
Johanna Kühn, Jens K Haumesser, Maximilian H Beck, Jennifer Altschüler, Andrea A Kühn, Vadim N Nikulin, Christoph van Riesen
The current pharmacotherapy of Parkinson's disease (PD) is primarily based on two classes of drugs: dopamine precursors, namely levodopa, and dopamine receptor agonists, such as apomorphine. Although both types of agents exert their beneficial clinical effects on motor and non-motor symptoms in PD via dopamine receptors, clinical efficiency and side effects differ substantially between levodopa and apomorphine. Levodopa can provide a greater symptomatic relief than dopamine receptor agonists. However, because long-term levodopa use is associated with early debilitating motor fluctuations, dopamine receptor agonists are often recommended in younger patients...
September 8, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28891733/application-of-laboratory-and-digital-techniques-for-visual-enhancement-during-the-ultrastructural-assessment-of-cilia
#16
Josef A Schroeder
Routine diagnostic electron microscopy of primary ciliary dyskinesia (PCD) is based on the findings of ultrastructural defects of axonemal components. Assessment of the typical abnormalities can be enhanced by improving the sample preservation status using tannic acid (TA) as additive in the biopsy fixation or processing steps. Another option is the implementation of computer-assisted image analysis tools. Advancements in high-resolution 3D visualization of the axonemal structure have been noted, with great potential for the future diagnosis of inherited cilia disorders...
September 11, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28890641/pharmaceutical-approval-update
#17
Michele B Kaufman
Sarilumab (Kevzara) for moderately to severely active rheumatoid arthritis; valbenazine (Ingrezza), the first approval for tardive dyskinesia; and cerliponase alpha (Brineura) for late infantile neuronal ceroid lipofuscinosis type-2 disease.
September 2017: P & T: a Peer-reviewed Journal for Formulary Management
https://www.readbyqxmd.com/read/28890441/haemophilus-influenzae-biofilms-in-primary-ciliary-dyskinesia-a-moving-story
#18
EDITORIAL
Amelia Shoemark
No abstract text is available yet for this article.
September 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28890436/primary-ciliary-dyskinesia-ciliated-airway%C3%A2-cells-show-increased-susceptibility-to-haemophilus-influenzae-biofilm-formation
#19
Woolf T Walker, Claire L Jackson, Raymond N Allan, Samuel A Collins, Michael J Kelso, Ardeshir Rineh, Nageshwar R Yepuri, Ben Nicholas, Laurie Lau, David Johnston, Peter Lackie, Saul N Faust, Jane S A Lucas, Luanne Hall-Stoodley
Non-typeable Haemophilus influenzae (NTHi) is the most common pathogen in primary ciliary dyskinesia (PCD) patients. We hypothesised that abnormal ciliary motility and low airway nitric oxide (NO) levels on airway epithelial cells from PCD patients might be permissive for NTHi colonisation and biofilm development.We used a primary epithelial cell co-culture model to investigate NTHi infection. Primary airway epithelial cells from PCD and non-PCD patients were differentiated to ciliation using an air-liquid interface culture and then co-cultured with NTHi...
September 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28890132/motor-abnormalities-in-first-episode-psychosis-patients-and-long-term-psychosocial-functioning
#20
Manuel J Cuesta, Elena García de Jalón, M Sol Campos, Lucía Moreno-Izco, Ruth Lorente-Omeñaca, Ana M Sánchez-Torres, Víctor Peralta
Motor abnormalities (MAs) are highly prevalent in patients with first-episode psychosis both before any exposure and after treatment with antipsychotic drugs. However, the extent to which these abnormalities have predictive value for long-term psychosocial functioning is unknown. One hundred antipsychotic-naive first-episode psychosis (FEP) patients underwent extensive motor evaluation including catatonic, parkinsonism, dyskinesia, akathisia and neurological soft signs. Patients were assessed at naïve state and 6months later...
September 7, 2017: Schizophrenia Research
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