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https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#1
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28291301/-acute-dystonia-due-to-aripiprazole-use-in-two-children-with-autism-spectrum-disorder-in-the-first-five-years-of-life
#2
Mustafa Küçükköse, Bürge Kabukçu Başay
Autism spectrum disorders (ASD) are neuropsychiatric disorders characterized by impairment in social interactions, in verbal and non-verbal communication, and restricted and stereotyped patterns of interest and behavior within the first 3 years of life. Pharmacologic interventions may be needed for the treatment of temper tantrums, aggression, hyperactivity, and stereotypes in children with ASD. The approval of aripiprazole by the United States Food and Drug Administration (USFDA) for the treatment of temper tantrums in children and adolescents with ASD has gained increased interest for the use in these patients...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28291293/-adverse-effects-of-medication-and-quality-of-life-in-patients-receiving-second-generation-antipsychotics-a-comparison-of-long-acting-injectable-and-oral-therapies
#3
Demet Sağlam Aykut, Filiz Civil Arslan, Ahmet Tiryaki, Evrim Özkorumak, Serdar Karakullukçu
OBJECTIVE: Maintenance treatment with antipsychotic drugs for patients with schizophrenia is highly effective in decreasing the recurrence rate of the disease. In the current study, we aimed to compare long-acting second generation antipsychotic drug injections and oral forms of second generation antipsychotic drugs in terms of their adverse effects on quality of life. METHOD: Forty-one patients receiving second generation antipsychotic drugs and 139 patients diagnosed with schizophrenia or schizoaffective disorder were treated with oral second generation antipsychotic drugs and enrolled in the study...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28282088/-history-of-the-department-of-neurology-at-the-university-of-buenos-aires-1887-2007
#4
Ricardo F Allegri, Leonardo Bartoloni, Roberto E Sica
In 1887, only five years after Jean-Martin Charcot was awarded the Head of Neurology at "La Salpetrière" in Paris, José María Ramos Mejía became the first professor of Neurology in South America, at the School of Medicine of the University of Buenos Aires. Ramos Mejía convoked three assistants, the neuropathologist Christofredo Jakob, the clinician José A. Esteves and José Ingenieros. Hence it followed that Neurology in Argentina took a stand based on a clinical neurology-neuropathology approach (1941-1987) followed by a clinical-semiological attitude, finally inserting itself within the modern times (1987-present) by creating subspecialties...
July 2016: Vertex: Revista Argentina de Psiquiatriá
https://www.readbyqxmd.com/read/28273704/-clinical-and-genetic-characteristics-of-children-with-leigh-syndrome
#5
F Fang, Y Shen, D M Shen, Z M Liu, C H Ding, W C Zhang, S Z Sun, J L Lyu, T L Han, X H Wang, W H Zhang, X Y Yang, J W Li, H S Wu
Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children's Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28272307/blood-biomarkers-predict-the-cognitive-effects-of-aripiprazole-in-patients-with-acute-schizophrenia
#6
Hikaru Hori, Reiji Yoshimura, Asuka Katsuki, Kiyokazu Atake, Ryohei Igata, Yuki Konishi, Hiroki Beppu, Hirotaka Tominaga
Aripiprazole has been reported to exert variable effects on cognitive function in patients with schizophrenia. Therefore, in the present study, we evaluated biological markers, clinical data, and psychiatric symptoms in order to identify factors that influence cognitive function in patients with schizophrenia undergoing aripiprazole treatment. We evaluated cognitive function in 51 patients with schizophrenia using Brief Assessment of Cognition in Schizophrenia (BACS), as well as background information, psychiatric symptoms, plasma catecholamine metabolites-homovanillic acid (HVA), 3-methoxy-4-hydroxyphenylglycol (MHPG)-, and serum brain-derived neurotrophic factor (BDNF)...
March 6, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28264635/lurasidone-compared-to-other-atypical-antipsychotic-monotherapies-for-bipolar-depression-a-systematic-review-and-network-meta-analysis
#7
Michael Ostacher, Daisy Ng-Mak, Pankaj Patel, Dionysios Ntais, Max Schlueter, Antony Loebel
OBJECTIVES: To assess the efficacy and tolerability of lurasidone versus other atypical antipsychotic monotherapy agents in patients with bipolar depression, using a Bayesian network meta-analysis. METHODS: Fourteen randomised clinical trials (6221 patients) of lurasidone, quetiapine (extended release and immediate release), aripiprazole, olanzapine, and ziprasidone for bipolar depression were included. Efficacy assessments included change in the Montgomery-Åsberg Depression Rating Scale (MADRS), rates of response (≥50% improvement in MADRS) and remission (MADRS ≤12 at study endpoint), and change in the Clinical Global Impressions-Bipolar Disorder-Severity (CGI-BP-S) scale...
March 7, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28259863/-review-of-the-psychiatric-aspects-of-anti-nmda-n-methyl-d-aspartic-acid-receptor-encephalitis-case-report-and-our-plans-for-a-future-study
#8
Levente Herman, Ildiko Reka Zsigmond, Laszlo Peter, Janos M Rethelyi
Anti-NMDAR (N-methyl-D-aspartic acid receptor) encephalitis, first described in 2007, is a rare, autoimmune limbic encephalitis. In half of the cases anti-NMDAR antibodies are paraneoplastic manifestations of an underlying tumor (mostly ovarian teratoma). In the early stage of the disease psychiatric symptoms are prominent, therefore 60-70% of the patients are first treated in a psychiatric department. In most of the cases, typical neurological symptoms appear later. Besides the clinical picture and typical symptoms, verifying presence of IgG antibodies in the serum or CSF is necessary to set up the diagnosis...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28258685/-analysis-of-phonosurgical-methods-of-treatment-in-spasmodic-dysphonia
#9
Bożena Kosztyła-Hojna, Greta Berger, Maciej Zdrojkowski
Spasmodic dysphonia (SD) is rather a rare voice disorder. It is most often seen in woman aged 40-50. The disease is caused by deep emotional and neurological disorders of extrapyramidal system. Two main clinical forms of SD are distinguished: about 90% of cases - adductor spasmodic dysphonia and abductor spasmodic dysphonia roughly 10%. Conservative therapy does not always yield sufficient effects. Botulinum toxin - type A injections into the thyroarytenoid muscle are also used in therapy. Though results are temporary and reversible...
February 20, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28258683/-patient-with-creutzfeld-jakob-disease-a-case-report
#10
Żanna Pastuszak, Kazimierz Tomczykiewicz, Adam Stępień, Renata Piusińska-Macoch, Joanna Klimczuk, Agnieszka Rolewska, Dariusz Galbarczyk
Creutzfeldt-Jakob disease (CJD) is a rare syndrome of central nervous system caused by infectious protein called prion. There are four types of CJD: sporadic (sCJD), familial (fCJD), jatrogenic (jCJD) and variant (vCJD). The most frequent symptoms are rapidly progressing dementia, mioclonias, akinetic mutism and signs of cerebellum dysfunction. In sCJD, MRI often shows high signal intensity in the putamen and caudate nucleus on T2-weighted images while in vCJD pulvinar sign is often observed. 70% patients with CJD often has characteristic generalized periodic sharp wave pattern in electroencephalography...
February 20, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28255778/mitochondrial-acetoacetyl-coa-thiolase-deficiency-basal-ganglia-impairment-may-occur-independently-of-ketoacidosis
#11
Stéphanie Paquay, Agnès Bourillon, Samia Pichard, Jean-François Benoist, Pascale de Lonlay, Dries Dobbelaere, Alain Fouilhoux, Nathalie Guffon, Isabelle Rouvet, François Labarthe, Karine Mention, Guy Touati, Vassili Valayannopoulos, Hélène Ogier de Baulny, Monique Elmaleh-Bergès, Cécile Acquaviva-Bourdain, Christine Vianey-Saban, Manuel Schiff
BACKGROUND: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. Neurological impairment may occur secondary to ketoacidotic episodes. However, we observed neuromotor abnormalities without ketoacidotic events in two T2-deficient families. We hypothesized that the neurological signs were related to the genetic defect and may occur independently of ketoacidotic episodes. We therefore conducted a retrospective review on a French T2-deficient patient series searching for neuromotor impairment...
March 2, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28255435/the-effect-of-long-acting-paliperidone-palmitate-once-monthly-on-negative-and-depressive-symptoms-in-patients-with-schizophrenia-switched-from-previous-unsuccessful-treatment-with-oral-aripiprazole
#12
Andreas Schreiner, Paul Bergmans, Pierre Cherubin, Ludger Hargarter
BACKGROUND: The negative symptoms of schizophrenia are generally harder to recognize, more difficult to treat than positive symptoms, and have a significant impact on patient functioning and overall outcomes. Treatment with aripiprazole may be associated with benefits on negative symptoms and functioning given its partial agonism to the dopamine D2 receptor. The aim of this subanalysis was to explore the impact of flexibly dosed, long-acting paliperidone palmitate once monthly (PP1M) on negative and depressive symptoms, disorganized thoughts, anxiety, extrapyramidal symptoms, and patient functioning in nonacute adult patients with schizophrenia previously unsuccessfully treated with oral aripiprazole monotherapy...
February 2017: Therapeutic Advances in Psychopharmacology
https://www.readbyqxmd.com/read/28255005/international-union-of-basic-and-clinical-pharmacology-ci-structures-and-small-molecule-modulators-of-mammalian-adenylyl-cyclases
#13
REVIEW
Carmen W Dessauer, Val J Watts, Rennolds S Ostrom, Marco Conti, Stefan Dove, Roland Seifert
Adenylyl cyclases (ACs) generate the second messenger cAMP from ATP. Mammalian cells express nine transmembrane AC (mAC) isoforms (AC1-9) and a soluble AC (sAC, also referred to as AC10). This review will largely focus on mACs. mACs are activated by the G-protein Gαs and regulated by multiple mechanisms. mACs are differentially expressed in tissues and regulate numerous and diverse cell functions. mACs localize in distinct membrane compartments and form signaling complexes. sAC is activated by bicarbonate with physiologic roles first described in testis...
April 2017: Pharmacological Reviews
https://www.readbyqxmd.com/read/28242107/gradual-vs-wait-and-gradual-discontinuation-in-antipsychotic-switching-a-meta-analysis
#14
Hiroyoshi Takeuchi, Sadhana Thiyanavadivel, Ofer Agid, Gary Remington
To address whether wait discontinuation (i.e., introducing the new antipsychotic while maintaining the first for a period before initiating its discontinuation) is superior to non-wait discontinuation (i.e., initiating the first antipsychotic's discontinuation when introducing the new antipsychotic) in antipsychotic switching, we conducted a meta-analysis of randomized controlled trials comparing gradual vs. wait-and-gradual antipsychotic discontinuation in patients with schizophrenia. The meta-analysis of 5 studies (n=410) demonstrated no significant differences in any clinical outcomes, including study discontinuation, psychopathology, extrapyramidal symptoms, and treatment-emergent adverse events, between the two groups...
February 24, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28238739/consensus-based-recommendations-for-the-management-of-rapid-cognitive-decline-due-to-alzheimer-s-disease
#15
Jianping Jia, Serge Gauthier, Sarah Pallotta, Yong Ji, Wenshi Wei, Shifu Xiao, Dantao Peng, Qihao Guo, Liyong Wu, Shengdi Chen, Weihong Kuang, Junjian Zhang, Cuibai Wei, Yi Tang
INTRODUCTION: Rapid cognitive decline (RCD) occurs in dementia due to Alzheimer's disease (AD). METHODS: Literature review, consensus meetings, and a retrospective chart review of patients with probable AD were conducted. RESULTS: Literature review showed that RCD definitions varied. Mini-Mental State Examination scores <20 at treatment onset, vascular risk factors, age <70 years at symptom onset, higher education levels, and early appearance of hallucinations, psychosis, or extrapyramidal symptoms are recognized RCD risk factors...
February 24, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28228797/femoral-neck-s-fracture-in-fahr-s-syndrome-case-report
#16
Marcello Sallì, Antonio D'Arienzo, Mariella Bonanno, Salvatore Morello, Antonino Sanfilippo, Giulia Letizia Mauro, Michele D'Arienzo
Fahr's syndrome, also known as "Bilateral Striopallidodentate Calcinosis" (BSPDC) primitive, is a rare neurological disease characterized by the presence of idiopathic, bilateral, symmetrical and abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, dentate nuclei of the cerebellum, nuclei of thalamus and semi-oval center. We describe a case of a 76-year-old male patient underwent reduction and fixation of a subtrochanteric fracture with intramedullary nail...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28219485/acute-antipsychotic-treatment-of-children-and-adolescents-with-schizophrenia-spectrum-disorders-a-systematic-review-and-network-meta-analysis
#17
REVIEW
Anne Katrine Pagsberg, Simon Tarp, Dorte Glintborg, Anne Dorte Stenstrøm, Anders Fink-Jensen, Christoph Ulrich Correll, Robin Christensen
OBJECTIVE: To determine the comparative efficacy and safety of antipsychotics for youth with early-onset schizophrenia using network meta-analytic methods combining direct and indirect trial data. METHOD: The authors systematically searched MEDLINE, the Cochrane Library, and clinicaltrials.gov and selected randomized controlled trials allocating youth with schizophrenia spectrum disorders to a (non-clozapine) antipsychotic versus placebo or another antipsychotic...
March 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28217166/multifocal-myoclonus-as-a-heralding-manifestation-of-wilson-disease
#18
Rajesh Verma, Vikram V Holla, Suchit Pandey, Imran Rizvi
Wilson disease (WD) is one of the few curable movement disorders that manifests with varied presentations so that WD needs to be considered in any patient with a movement disorder under the age of 50 years. Although WD is one of the causes of myoclonus, it is rarely seen in WD and usually as an associated finding. We report a case of an adolescent female patient of WD who presented with cortical multifocal myoclonus of 6-month duration with later development of generalized dystonia, extrapyramidal syndrome, and cognitive decline...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28205498/cognitive-control-learning-and-clinical-motor-ratings-are-most-highly-associated-with-basal-ganglia-brain-volumes-in-the-premanifest-huntington-s-disease-phenotype
#19
Maria B Misiura, Spencer Lourens, Vince D Calhoun, Jeffrey Long, Jeremy Bockholt, Hans Johnson, Ying Zhang, Jane S Paulsen, Jessica A Turner, Jingyu Liu, Betul Kara, Elizabeth Fall
OBJECTIVES: Huntington's disease (HD) is a debilitating genetic disorder characterized by motor, cognitive and psychiatric abnormalities associated with neuropathological decline. HD pathology is the result of an extended chain of CAG (cytosine, adenine, guanine) trinucleotide repetitions in the HTT gene. Clinical diagnosis of HD requires the presence of an otherwise unexplained extrapyramidal movement disorder in a participant at risk for HD. Over the past 15 years, evidence has shown that cognitive, psychiatric, and subtle motor dysfunction is evident decades before traditional motor diagnosis...
February 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28202694/pure-autonomic-failure-predictors-of-conversion-to-clinical-cns-involvement
#20
Wolfgang Singer, Sarah E Berini, Paola Sandroni, Robert D Fealey, Elizabeth A Coon, Mariana D Suarez, Eduardo E Benarroch, Phillip A Low
OBJECTIVE: Based on the observation that a subset of patients originally diagnosed with pure autonomic failure (PAF) eventually develops extrapyramidal or cerebellar involvement consistent with multiple system atrophy (MSA), Parkinson disease (PD), or dementia with Lewy bodies (DLB), we aimed to identify predictors of progression of PAF to more sinister synucleinopathies. METHODS: In this retrospective cohort study, we reviewed patients seen at Mayo Clinic Rochester by autonomic specialists between 2001 and 2011 and during initial evaluation diagnosed with orthostatic hypotension consistent with PAF (possible PAF)...
March 21, 2017: Neurology
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