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Dyskinesia

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https://www.readbyqxmd.com/read/29159192/sex-differences-in-lrrk2-g2019s-and-idiopathic-parkinson-s-disease
#1
Marta San Luciano, Cuiling Wang, Roberto A Ortega, Nir Giladi, Karen Marder, Susan Bressman, Rachel Saunders-Pullman
Objective: To evaluate sex differences and the relative effect of G2019S LRRK2 mutations in Parkinson's disease (PD). Methods: 530 LRRK2 PD carriers and 759 noncarrier PD (idiopathic, IPD) evaluated as part of the Fox Foundation (MJFF) Consortium were included. All participants completed a study visit including information on clinical features, treatment, examination, and motor and nonmotor questionnaires. Clinical features were compared between men and women separately for IPD and LRRK2 PD; and features were compared between IPD and LRRK2 PD separately for men and women...
November 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29158924/methylmalonic-acidemia-with-novel-mut-gene-mutations
#2
Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/29157795/poor-reproducibility-of-gallbladder-ejection-fraction-by-biliary-scintigraphy-for-diagnosis-of-biliary-dyskinesia
#3
J Bart Rose, Ryan C Fields, Steven M Strasberg
BACKGROUND: Twenty percent of cholecystectomies in the United States are performed for a diagnosis of biliary dyskinesia. Diagnosis is made by measuring gallbladder ejection fraction (GbEF) using hepatobiliary scintigraphy. Our purpose was to evaluate the reproducibility of GbEF measurements. STUDY DESIGN: This is a retrospective review of patients referred for cholecystectomy from 2010-2016 with a diagnosis of biliary dyskinesia based on a GbEF test who then underwent a repeat GbEF test...
November 17, 2017: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/29149825/dopamine-agonists-and-neurodegenerative-disorders
#4
Saba Khanam, Yasir Hasan Siddique
Background: Parkinson’s disease (PD) is a neurodegenerative disease characterized by the loss of dopaminergic neurons within the substantia nigra pars compacta (SNpc). Despite of many researches, there is still no cure for this disease. Levodopa is first line treatment of PD, but the long term use of it leads to motor impairments and dyskinesias. The dopamine agonists are the preferred choice for the treatment of PD. They are neuroprotective in nature but also have side effects. Objective: Our aim was to review the work that has been carried out on dopamine agonists and the future possibilities to reduce their side effects...
November 17, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/29148542/prrt2-dependent-dyskinesia-cerebellar-paroxysmal-and-persistent
#5
Lieke Kros, Chris I De Zeeuw
In an elegant publication in Cell Research, Tan and colleagues showed that ablation of PRRT2 in cerebellar granule cells is sufficient to induce paroxysmal kinesigenic dyskinesia. PRRT2 turns out to downregulate the presynaptic SNARE complex in granule cell axons, which in turn controls the activity patterns of Purkinje cells, the sole output of the cerebellar cortex.
November 17, 2017: Cell Research
https://www.readbyqxmd.com/read/29147884/ocular-flutter-following-zika-virus-infection
#6
Emely Karam, Jose Giraldo, Flor Rodriguez, Carlos E Hernandez-Pereira, Alfonso J Rodriguez-Morales, Gabriela M Blohm, Alberto E Paniz-Mondolfi
Zika virus (ZIKV) is an emerging flavivirus which has been linked to a number of neurologic manifestations such as Guillain-Barré syndrome (GBS), transverse myelitis, and meningo-encephalitis. Ophthalmologic manifestations are increasingly being reported; however, ocular dyskinesias have not been described in this context to date. Herein, we report a case of a 22-year-old female who presented with ocular flutter and associated Guillain-Barré syndrome following acute ZIKV infection. We speculate that although such symptoms may have originated from a direct viral insult, a post-infectious autoimmune mechanism may not be excluded...
November 16, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/29141124/the-effects-of-valbenazine-in-participants-with-tardive-dyskinesia-results-of-the-1-year-kinect-3-extension-study
#7
Stewart A Factor, Gary Remington, Cynthia L Comella, Christoph U Correll, Joshua Burke, Roland Jimenez, Grace S Liang, Christopher F O'Brien
BACKGROUND: Valbenazine, a highly selective vesicular monoamine transporter 2 inhibitor, is approved for the treatment of tardive dyskinesia. This is the first report of long-term effects in adults with tardive dyskinesia. METHODS: Participants with a DSM-IV diagnosis of schizophrenia, schizoaffective disorder, or a mood disorder who completed the 6-week, double-blind, placebo-controlled period of KINECT 3 were eligible to enter the 42-week valbenazine extension (VE) period and subsequent 4-week washout period...
November 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29135867/analysis-of-otologic-features-of-patients-with-primary-ciliary-dyskinesia
#8
Kazuhiko Takeuchi, Masako Kitano, Hiroshi Sakaida, Satoko Usui, Sawako Masuda, Satoru Ogawa, Makoto Ikejiri, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani
OBJECTIVE: To evaluate otologic features of primary ciliary dyskinesia (PCD), especially eardrum features, audiometric findings, and clinical course. STUDY DESIGN: Retrospective patient review. SETTING: Tertiary referral center. PATIENTS: Fifteen patients (mean age, 16.9 years [range, 1-32 yr]; 8 males and 7 females) diagnosed with PCD at our university hospital in the last 12 years. INTERVENTION: Diagnostic...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29134233/-genuine-motor-phenomena-in-schizophrenia-neuronal-correlates-and-pathomechanisms
#9
REVIEW
D Hirjak, G Northoff, P A Thomann, K M Kubera, R C Wolf
Despite a growing body of evidence on motor dysfunction in schizophrenia spectrum disorders, the neuronal correlates of genuine motor abnormalities (GMA) are not fully elucidated at present. Moreover, the clinical relevance of a potential "motor intermediate phenotype" remains controversial. This systematic review aims at characterizing a "motor intermediate phenotype" in schizophrenia spectrum disorders. The second goal of this systematic review is to discuss GMA-associated brain alterations as potential biomarkers of psychosis risk syndrome and manifest motor symptoms against the background of current neuroimaging evidence...
November 13, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/29133352/primary-ciliary-dyskinesia-keep-it-on-your-radar
#10
EDITORIAL
Margaret Rosenfeld, Lawrence E Ostrowski, Maimoona A Zariwala
No abstract text is available yet for this article.
November 13, 2017: Thorax
https://www.readbyqxmd.com/read/29132521/gallbladder-dysfunction-cholecystitis-choledocholithiasis-cholangitis-and-biliary-dyskinesia
#11
REVIEW
Thad Wilkins, Edward Agabin, Jason Varghese, Asif Talukder
The prevalence of gallstones is 10% to 15% in adults. Individuals with acute cholecystitis present with right upper quadrant pain, fever, and leukocytosis. Management includes supportive care and cholecystectomy. The prevalence of choledocholithiasis is 10% to 20%, and serious complications include cholangitis and gallstone pancreatitis. The goal of management in individuals with choledocholithiasis consists of clearing common bile duct stones. Acute ascending cholangitis is a life-threatening condition involving acute inflammation and infection of the common bile duct...
December 2017: Primary Care
https://www.readbyqxmd.com/read/29132464/-clinical-manifestations-and-genetic-diagnosis-of-paroxysmal-kinesigenic-dyskinesia
#12
Xiao-Ming Zhu, Yu-Hong Gong, Si Lu, Shou-Chao Cheng, Bao-Zhen Yao
The clinical manifestations of five children with paroxysmal kinesigenic dyskinesia (PKD) were retrospectively analyzed and their gene mutations were analyzed by high-throughput sequencing and chromosome microarray. The 5 patients consisted of 4 males and 1 female and the age of onset was 6-9 years. Dyskinesia was induced by sudden turn movement, scare, mental stress, or other factors. These patients were conscious and had abnormal posture of unilateral or bilateral extremities, athetosis, facial muscle twitching, and abnormal body posture...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29131540/equivalence-in-outcomes-between-draf-2b-vs-draf-3-frontal-sinusotomy-for-refractory-chronic-frontal-rhinosinusitis
#13
Vishal S Patel, Garret Choby, Liang-Chun Shih, Zara M Patel, Jayakar V Nayak, Peter H Hwang
BACKGROUND: Endoscopic Draf 2B and Draf 3 frontal sinusotomies are frequently performed for chronic refractory frontal rhinosinusitis. The purpose of this study was to compare outcomes between Draf 2B and Draf 3 procedures. METHODS: A retrospective cohort study was conducted comparing patients undergoing bilateral Draf 2B vs Draf 3 procedures from 2000 to 2016. Patients with neoplasia, dysplasia, mucocele, cystic fibrosis, or ciliary dyskinesia were excluded. Preoperative disease parameters included number of prior surgeries, presence of polyps, preoperative 22-item Sino-Nasal Outcome Test (SNOT-22) score, frontal Lund-Mackay score, anterior-posterior diameter of the frontal ostium, and Global Osteitis Scoring Scale (GOSS)...
November 13, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/29130466/-safinamide-from-daily-clinical-practice-first-clinical-steps
#14
J Pagonabarraga, J Kulisevsky
INTRODUCTION: The management of motor complications in Parkinson's disease (PD) is still limited. Safinamide, a new drug that has MAO-B inhibition and antiglutamatergic effects through inhibition of sodium channels, has shown efficacy for the treatment of fluctuations at doses of 50-100 mg/day. PATIENTS AND METHODS: From daily clinical practice, we describe the efficacy and tolerability of safinamide at three months in PD patients with motor complications. Efficacy was assessed by the Clinical Global Impression of Change scale and change in 'off' time during the daytime...
November 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/29126856/nlx-112-a-highly-selective-5-ht1a-receptor-agonist-effects-on-body-temperature-and-plasma-corticosterone-levels-in-rats
#15
A Newman-Tancredi, R Depoortère, E Carilla-Durand, J P Tarayre, M Kleven, W Koek, L Bardin, M A Varney
NLX-112 (a.k.a. F13640 or befiradol), exhibits nanomolar affinity, exceptional selectivity and high agonist efficacy at 5-hydroxytryptamine 5-HT1A receptors. It possesses marked activity in a variety of animal models of depression, pain and L-DOPA-induced dyskinesia. However, its influence on translational biomarkers of central 5-HT1A receptor activation has not been previously described. Here, we report on the activity, in rats, of NLX-112 to increase plasma corticosterone levels and produce hypothermia, two responses which are also elicited by 5-HT1A receptor agonists in humans...
November 7, 2017: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/29125979/synaptic-plasticity-may-underlie-l-dopa-induced-dyskinesia
#16
REVIEW
Anders Borgkvist, Ori J Lieberman, David Sulzer
l-DOPA provides highly effective treatment for Parkinson's disease, but l-DOPA induced dyskinesia (LID) is a very debilitating response that eventually is presented by a majority of patients. A central issue in understanding the basis of LID is whether it is due to a response to chronic l-DOPA over years of therapy, and/or due to synaptic changes that follow the loss of dopaminergic neurotransmission and then triggered by acute l-DOPA administration. We review recent work that suggests that specific synaptic changes in the D1 dopamine receptor-expressing direct pathway striatal projection neurons due to loss of dopamine in Parkinson's disease are responsible for LID...
November 7, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29122401/the-efficacy-of-adrenocorticotropic-hormone-in-a-girl-with-anti-n-methyl-d-aspartate-receptor-encephalitis
#17
Mari Hatanaka, Shuichi Shimakawa, Akihisa Okumura, Jun Natsume, Miho Fukui, Shohei Nomura, Mitsuru Kashiwagi, Hiroshi Tamai
BACKGROUND: Immunomodulatory therapy has shown some therapeutic benefits in patients with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. In this report, we describe the use of adrenocorticotropic hormone (ACTH) immunotherapy with good outcome in a patient with anti-NMDAR encephalitis. SUBJECT AND METHODS: A 4-year-old girl developed convulsions in her right arm and leg without impaired consciousness. These convulsions occurred frequently in clusters of 10-20 events of 10-20 s duration...
November 6, 2017: Brain & Development
https://www.readbyqxmd.com/read/29121203/functional-characterization-of-tektin-1-in-motile-cilia-and-evidence-for-tekt1-as-a-new-candidate-gene-for-motile-ciliopathies
#18
Rebecca Ryan, Marion Failler, Madeline Louise Reilly, Meriem Garfa-Traore, Marion Delous, Emilie Filhol, Thérèse Reboul, Christine Bole-Feysot, Patrick Nitschké, Véronique Baudouin, Serge Amselem, Estelle Escudier, Marie Legendre, Alexandre Benmerah, Sophie Saunier
A child presenting with Mainzer-Saldino syndrome (MZSDS), characterized by renal, retinal and skeletal involvements, was also diagnosed with lung infections and airway ciliary dyskinesia. These manifestations suggested dysfunction of both primary and motile cilia, respectively. Targeted exome sequencing identified biallelic mutations in WDR19, encoding an IFT-A subunit previously associated with MZSDS-related chondrodysplasia, Jeune asphyxiating thoracic dysplasia and cranioectodermal dysplasia, linked to primary cilia dysfunction, and in TEKT1 which encodes tektin-1 an uncharacterized member of the tektin family, mutations of which may cause ciliary dyskinesia...
November 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29116124/monocytes-from-patients-with-primary-ciliary-dyskinesia-show-enhanced-inflammatory-properties-and-produce-higher-levels-of-pro-inflammatory-cytokines
#19
M Cockx, M Gouwy, P Ruytinx, I Lodewijckx, A Van Hout, S Knoops, N Pörtner, I Ronsse, L Vanbrabant, V Godding, K De Boeck, J Van Damme, M Boon, S Struyf
Patients with Primary Ciliary Dyskinesia (PCD) suffer from recurrent upper and lower airway infections due to defects in the cilia present on the respiratory epithelium. Since chronic inflammatory conditions can cause changes in innate immune responses, we investigated whether monocytes isolated from the peripheral blood of pediatric PCD patients respond differently to inflammatory stimuli, compared to monocytes from healthy children and adults. The receptor for C5a (C5aR) was upregulated in PCD, whereas expression levels of the leukocyte chemoattractant receptors CCR1, CCR2, CCR5, BLT1 and FPR1 on PCD monocytes were similar to those on monocytes from healthy individuals...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29115761/diagnosis-and-management-of-children-with-primary-ciliary-dyskinesia
#20
Amanda Harris
Primary ciliary dyskinesia (PCD) is a rare, genetic disorder of the motile cilia characterised by chronic lung disease, nasal and sinus disease, chronic ear infections with glue ear leading to possible hearing impairment, and subfertility. Half of patients have organ laterality defects. Despite symptoms being present from birth, PCD remains underdiagnosed. Early diagnosis and symptom management may reduce morbidity, improve quality of life and ensure children are adequately supported to meet their full potential...
September 11, 2017: Nursing Children and Young People
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