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[PMID]:29205472
[Au] Autor:Maas RR; Iwanicka-Pronicka K; Kalkan Ucar S; Alhaddad B; AlSayed M; Al-Owain MA; Al-Zaidan HI; Balasubramaniam S; Baric I; Bubshait DK; Burlina A; Christodoulou J; Chung WK; Colombo R; Darin N; Freisinger P; Garcia Silva MT; Grunewald S; Haack TB; van Hasselt PM; Hikmat O; Hörster F; Isohanni P; Ramzan K; Kovacs-Nagy R; Krumina Z; Martin-Hernandez E; Mayr JA; McClean P; De Meirleir L; Naess K; Ngu LH; Pajdowska M; Rahman S; Riordan G; Riley L; Roeben B; Rutsch F; Santer R; Schiff M; Seders M; Sequeira S; Sperl W; Staufner C; Synofzik M; Taylor RW; Trubicka J; Tsiakas K; Unal O; Wassmer E
[Ad] Endereço:Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
[Ti] Título:Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
[So] Source:Ann Neurol;82(6):1004-1015, 2017 Dec.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. RESULTS: Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days-33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic "putaminal eye" was seen in 53%. The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills. INTERPRETATION: MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004-1015.
[Mh] Termos MeSH primário: Hidrolases de Éster Carboxílico/genética
Transtornos da Surdocegueira/diagnóstico por imagem
Transtornos da Surdocegueira/genética
Progressão da Doença
Distonia/diagnóstico por imagem
Distonia/genética
Deficiência Intelectual/diagnóstico por imagem
Deficiência Intelectual/genética
Mutação/genética
Atrofia Óptica/diagnóstico por imagem
Atrofia Óptica/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sequência de Aminoácidos
Criança
Pré-Escolar
Estudos de Coortes
Transtornos da Surdocegueira/terapia
Distonia/terapia
Feminino
Seres Humanos
Lactente
Recém-Nascido
Deficiência Intelectual/terapia
Masculino
Atrofia Óptica/terapia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
EC 3.1.1.- (Carboxylic Ester Hydrolases); EC 3.1.1.- (SERAC1 protein, human)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180101
[Lr] Data última revisão:
180101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171206
[St] Status:MEDLINE
[do] DOI:10.1002/ana.25110


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[PMID]:29236641
[Au] Autor:Eichler FS; Swoboda KJ; Hunt AL; Cestari DM; Rapalino O
[Ad] Endereço:From the Departments of Neurology (F.S.E., K.J.S., A.L.H.) and Radiology (O.R.), Massachusetts General Hospital, the Departments of Neurology (F.S.E., K.J.S., A.L.H.), Ophthalmology (D.M.C.), and Radiology (O.R.), Harvard Medical School, and the Department of Ophthalmology, Massachusetts Eye and Ear
[Ti] Título:Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.
[So] Source:N Engl J Med;377(24):2376-2385, 2017 Dec 14.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Doenças dos Gânglios da Base/diagnóstico
Distonia/etiologia
Proteínas de Membrana Transportadoras/genética
Mutação
Convulsões/etiologia
[Mh] Termos MeSH secundário: Doenças dos Gânglios da Base/complicações
Doenças dos Gânglios da Base/tratamento farmacológico
Doenças dos Gânglios da Base/genética
Biotina/uso terapêutico
Encéfalo/diagnóstico por imagem
Carbidopa/uso terapêutico
Diagnóstico Diferencial
Combinação de Medicamentos
Distonia/tratamento farmacológico
Feminino
Seres Humanos
Levodopa/uso terapêutico
Macula Lutea/patologia
Imagem por Ressonância Magnética
Erros Inatos do Metabolismo/diagnóstico
Nervo Óptico/patologia
Tiamina/uso terapêutico
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; CLINICAL CONFERENCE; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Drug Combinations); 0 (Membrane Transport Proteins); 0 (SLC19A3 protein, human); 0 (carbidopa, levodopa drug combination); 46627O600J (Levodopa); 6SO6U10H04 (Biotin); MNX7R8C5VO (Carbidopa); X66NSO3N35 (Thiamine)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171220
[Lr] Data última revisão:
171220
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171214
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMcpc1706109


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[PMID]:28870357
[Au] Autor:Edwards CA; Kouzani A; Lee KH; Ross EK
[Ad] Endereço:School of Engineering, Deakin University, Geelong, Victoria, Australia; Department of Neurologic Surgery, Mayo Clinic, Rochester, MN.
[Ti] Título:Neurostimulation Devices for the Treatment of Neurologic Disorders.
[So] Source:Mayo Clin Proc;92(9):1427-1444, 2017 Sep.
[Is] ISSN:1942-5546
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Rapid advancements in neurostimulation technologies are providing relief to an unprecedented number of patients affected by debilitating neurologic and psychiatric disorders. Neurostimulation therapies include invasive and noninvasive approaches that involve the application of electrical stimulation to drive neural function within a circuit. This review focuses on established invasive electrical stimulation systems used clinically to induce therapeutic neuromodulation of dysfunctional neural circuitry. These implantable neurostimulation systems target specific deep subcortical, cortical, spinal, cranial, and peripheral nerve structures to modulate neuronal activity, providing therapeutic effects for a myriad of neuropsychiatric disorders. Recent advances in neurotechnologies and neuroimaging, along with an increased understanding of neurocircuitry, are factors contributing to the rapid rise in the use of neurostimulation therapies to treat an increasingly wide range of neurologic and psychiatric disorders. Electrical stimulation technologies are evolving after remaining fairly stagnant for the past 30 years, moving toward potential closed-loop therapeutic control systems with the ability to deliver stimulation with higher spatial resolution to provide continuous customized neuromodulation for optimal clinical outcomes. Even so, there is still much to be learned about disease pathogenesis of these neurodegenerative and psychiatric disorders and the latent mechanisms of neurostimulation that provide therapeutic relief. This review provides an overview of the increasingly common stimulation systems, their clinical indications, and enabling technologies.
[Mh] Termos MeSH primário: Terapia por Estimulação Elétrica/métodos
Transtornos Mentais/terapia
Doenças do Sistema Nervoso/terapia
Recuperação de Função Fisiológica/fisiologia
[Mh] Termos MeSH secundário: Estimulação Encefálica Profunda/instrumentação
Estimulação Encefálica Profunda/métodos
Estimulação Encefálica Profunda/normas
Distonia/terapia
Terapia por Estimulação Elétrica/instrumentação
Terapia por Estimulação Elétrica/normas
Epilepsia/terapia
Tremor Essencial/terapia
Seres Humanos
Neuroestimuladores Implantáveis/normas
Transtorno Obsessivo-Compulsivo/terapia
Doença de Parkinson/terapia
Estimulação da Medula Espinal/instrumentação
Estimulação da Medula Espinal/métodos
Estimulação da Medula Espinal/normas
Estimulação do Nervo Vago/instrumentação
Estimulação do Nervo Vago/métodos
Estimulação do Nervo Vago/normas
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170913
[Lr] Data última revisão:
170913
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170906
[St] Status:MEDLINE


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[PMID]:28858620
[Au] Autor:Kim J; Kim Y; Nakajima R; Shin A; Jeong M; Park AH; Jeong Y; Jo S; Yang S; Park H; Cho SH; Cho KH; Shim I; Chung JH; Paik SB; Augustine GJ; Kim D
[Ad] Endereço:Department of Biological Sciences, KAIST, Daejeon 34141, Republic of Korea; Center for Neuroscience, KIST, Seoul 02792, Republic of Korea.
[Ti] Título:Inhibitory Basal Ganglia Inputs Induce Excitatory Motor Signals in the Thalamus.
[So] Source:Neuron;95(5):1181-1196.e8, 2017 Aug 30.
[Is] ISSN:1097-4199
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Basal ganglia (BG) circuits orchestrate complex motor behaviors predominantly via inhibitory synaptic outputs. Although these inhibitory BG outputs are known to reduce the excitability of postsynaptic target neurons, precisely how this change impairs motor performance remains poorly understood. Here, we show that optogenetic photostimulation of inhibitory BG inputs from the globus pallidus induces a surge of action potentials in the ventrolateral thalamic (VL) neurons and muscle contractions during the post-inhibitory period. Reduction of the neuronal population with this post-inhibitory rebound firing by knockout of T-type Ca channels or photoinhibition abolishes multiple motor responses induced by the inhibitory BG input. In a low dopamine state, the number of VL neurons showing post-inhibitory firing increases, while reducing the number of active VL neurons via photoinhibition of BG input, effectively prevents Parkinson disease (PD)-like motor symptoms. Thus, BG inhibitory input generates excitatory motor signals in the thalamus and, in excess, promotes PD-like motor abnormalities. VIDEO ABSTRACT.
[Mh] Termos MeSH primário: Globo Pálido/fisiologia
Neurônios Motores/fisiologia
Inibição Neural/fisiologia
Tálamo/fisiologia
[Mh] Termos MeSH secundário: Potenciais de Ação/fisiologia
Oxirredutases do Álcool/genética
Animais
Canais de Cálcio Tipo T/genética
Canais de Cálcio Tipo T/fisiologia
Dopamina/metabolismo
Distonia/dietoterapia
Distonia/tratamento farmacológico
Distonia/fisiopatologia
Feminino
Globo Pálido/citologia
Globo Pálido/metabolismo
Levodopa/uso terapêutico
Masculino
Erros Inatos do Metabolismo/dietoterapia
Erros Inatos do Metabolismo/tratamento farmacológico
Erros Inatos do Metabolismo/fisiopatologia
Camundongos
Camundongos Knockout
Contração Muscular/fisiologia
Vias Neurais/fisiologia
Neurônios/fisiologia
Transtornos Psicomotores/dietoterapia
Transtornos Psicomotores/tratamento farmacológico
Transtornos Psicomotores/fisiopatologia
Tálamo/citologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; VIDEO-AUDIO MEDIA
[Nm] Nome de substância:
0 (Calcium Channels, T-Type); 46627O600J (Levodopa); EC 1.1.- (Alcohol Oxidoreductases); EC 1.1.1.153 (sepiapterin reductase); VTD58H1Z2X (Dopamine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE


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[PMID]:28821231
[Au] Autor:Dastsooz H; Nemati H; Fard MAF; Fardaei M; Faghihi MA
[Ad] Endereço:Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
[Ti] Título:Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
[So] Source:BMC Med Genet;18(1):87, 2017 Aug 18.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17. The purpose of this study was to investigate disease-causing mutations in two patients with distinct NBIA disorders. CASE PRESENTATION: Whole Exome sequencing using Next Generation Illumina Sequencing was used to enrich all exons of protein-coding genes as well as some other important genomic regions in these two affected patients. A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition). The novel mutations were also confirmed by Sanger sequencing in the proband and their parents. CONCLUSIONS: Current study uncovered two rare novel mutations in PANK2 and PLA2G6 genes in patients with NBIA disorder and such studies may help to conduct genetic counseling and prenatal diagnosis more accurately for individuals at the high risk of these types of disorders.
[Mh] Termos MeSH primário: Fosfolipases A2 do Grupo VI/genética
Doenças Neurodegenerativas/genética
Fosfotransferases (Aceptor do Grupo Álcool)/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Encéfalo/diagnóstico por imagem
Criança
Análise Mutacional de DNA
Discinesias/diagnóstico
Discinesias/genética
Distonia/diagnóstico
Distonia/genética
Éxons
Feminino
Mutação da Fase de Leitura
Deleção de Genes
Redes Reguladoras de Genes
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Lactente
Masculino
Debilidade Muscular/diagnóstico
Debilidade Muscular/genética
Doenças Neurodegenerativas/diagnóstico
Polimorfismo Genético
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.33 (pantothenate kinase); EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (PLA2G6 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170830
[Lr] Data última revisão:
170830
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170820
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0439-y


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[PMID]:28768840
[Au] Autor:Cury RG; Fraix V; Castrioto A; Pérez Fernández MA; Krack P; Chabardes S; Seigneuret E; Alho EJL; Benabid AL; Moro E
[Ad] Endereço:From the Service de Neurologie (R.G.C., V.F., A.C., M.A.P.F., E.M.), Service de Neurochirurgie (M.A.P.F., E.S.), Centre Hospitalier Universitaire de Grenoble, Université Grenoble Alpes, INSERM U1216, Grenoble, France; Department of Neurology (R.G.C., M.A.P.F., E.J.L.A.), School of Medicine, Universi
[Ti] Título:Thalamic deep brain stimulation for tremor in Parkinson disease, essential tremor, and dystonia.
[So] Source:Neurology;89(13):1416-1423, 2017 Sep 26.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To report on the long-term outcomes of deep brain stimulation (DBS) of the thalamic ventral intermediate nucleus (VIM) in Parkinson disease (PD), essential tremor (ET), and dystonic tremor. METHODS: One hundred fifty-nine patients with PD, ET, and dystonia underwent VIM DBS due to refractory tremor at the Grenoble University Hospital. The primary outcome was a change in the tremor scores at 1 year after surgery and at the latest follow-up (21 years). Secondary outcomes included the relationship between tremor score reduction over time and the active contact position. Tremor scores (Unified Parkinson's Disease Rating Scale-III, items 20 and 21; Fahn, Tolosa, Marin Tremor Rating Scale) and the coordinates of the active contacts were recorded. RESULTS: Ninety-eight patients were included. Patients with PD and ET had sustained improvement in tremor with VIM stimulation (mean improvement, 70% and 66% at 1 year; 63% and 48% beyond 10 years, respectively; < 0.05). There was no significant loss of stimulation benefit over time ( > 0.05). Patients with dystonia exhibited a moderate response at 1-year follow-up (41% tremor improvement, = 0.027), which was not sustained after 5 years (30% improvement, = 0.109). The more dorsal active contacts' coordinates in the right lead were related to a better outcome 1 year after surgery ( = 0.029). During the whole follow-up, forty-eight patients (49%) experienced minor side effects, whereas 2 (2.0%) had serious events (brain hemorrhage and infection). CONCLUSIONS: VIM DBS is an effective long-term (beyond 10 years) treatment for tremor in PD and ET. Effects on dystonic tremor were modest and transient. CLASSIFICATION OF EVIDENCE: This provides Class IV evidence. It is an observational study.
[Mh] Termos MeSH primário: Estimulação Encefálica Profunda
Distonia/terapia
Tremor Essencial/terapia
Doença de Parkinson/terapia
Núcleos Ventrais do Tálamo
[Mh] Termos MeSH secundário: Adulto
Idoso
Estimulação Encefálica Profunda/efeitos adversos
Distonia/fisiopatologia
Tremor Essencial/fisiopatologia
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Doença de Parkinson/fisiopatologia
Estudos Retrospectivos
Resultado do Tratamento
Núcleos Ventrais do Tálamo/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170804
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004295


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[PMID]:28758203
[Au] Autor:Ostinelli EG; Brooke-Powney MJ; Li X; Adams CE
[Ad] Endereço:Department of Health Sciences, Università degli Studi di Milano, Via Antonio di Rudinì 8, Milan, Italy, 20142.
[Ti] Título:Haloperidol for psychosis-induced aggression or agitation (rapid tranquillisation).
[So] Source:Cochrane Database Syst Rev;7:CD009377, 2017 07 31.
[Is] ISSN:1469-493X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Haloperidol used alone is recommended to help calm situations of aggression or agitation for people with psychosis. It is widely accessible and may be the only antipsychotic medication available in limited-resource areas. OBJECTIVES: To examine whether haloperidol alone is an effective treatment for psychosis-induced aggression or agitation, wherein clinicians are required to intervene to prevent harm to self and others. SEARCH METHODS: We searched the Cochrane Schizophrenia Group's Study-Based Register of Trials (26th May 2016). This register is compiled by systematic searches of major resources (including AMED, BIOSIS CINAHL, Embase, MEDLINE, PsycINFO, PubMed, and registries of clinical trials) and their monthly updates, handsearches, grey literature, and conference proceedings, with no language, date, document type, or publication status limitations for inclusion of records into the register. SELECTION CRITERIA: Randomised controlled trials (RCTs) involving people exhibiting aggression and/or agitation thought to be due to psychosis, allocated rapid use of haloperidol alone (by any route), compared with any other treatment. Outcomes of interest included tranquillisation or asleep by 30 minutes, repeated need for rapid tranquillisation within 24 hours, specific behaviours (threat or injury to others/self), adverse effects. We included trials meeting our selection criteria and providing useable data. DATA COLLECTION AND ANALYSIS: We independently inspected all citations from searches, identified relevant abstracts, and independently extracted data from all included studies. For binary data we calculated risk ratio (RR), for continuous data we calculated mean difference (MD), and for cognitive outcomes we derived standardised mean difference (SMD) effect sizes, all with 95% confidence intervals (CI) and using a fixed-effect model. We assessed risk of bias for the included studies and used the GRADE approach to produce 'Summary of findings' tables which included our pre-specified main outcomes of interest. MAIN RESULTS: We found nine new RCTs from the 2016 update search, giving a total of 41 included studies and 24 comparisons. Few studies were undertaken in circumstances that reflect real-world practice, and, with notable exceptions, most were small and carried considerable risk of bias. Due to the large number of comparisons, we can only present a summary of main results.Compared with placebo, more people in the haloperidol group were asleep at two hours (2 RCTs, n=220, RR 0.88, 95%CI 0.82 to 0.95, very low-quality evidence) and experienced dystonia (2 RCTs, n=207, RR 7.49, 95%CI 0.93 to 60.21, very low-quality evidence).Compared with aripiprazole, people in the haloperidol group required fewer injections than those in the aripiprazole group (2 RCTs, n=473, RR 0.78, 95%CI 0.62 to 0.99, low-quality evidence). More people in the haloperidol group experienced dystonia (2 RCTs, n=477, RR 6.63, 95%CI 1.52 to 28.86, very low-quality evidence).Four trials (n=207) compared haloperidol with lorazepam with no significant differences with regard to number of participants asleep at one hour (1 RCT, n=60, RR 1.05, 95%CI 0.76 to 1.44, very low-quality of evidence) or those requiring additional injections (1 RCT, n=66, RR 1.14, 95%CI 0.91 to 1.43, very low-quality of evidence).Haloperidol's adverse effects were not offset by addition of lorazepam (e.g. dystonia 1 RCT, n=67, RR 8.25, 95%CI 0.46 to 147.45, very low-quality of evidence).Addition of promethazine was investigated in two trials (n=376). More people in the haloperidol group were not tranquil or asleep by 20 minutes (1 RCT, n=316, RR 1.60, 95%CI 1.18 to 2.16, moderate-quality evidence). Acute dystonia was too common in the haloperidol alone group for the trial to continue beyond the interim analysis (1 RCT, n=316, RR 19.48, 95%CI 1.14 to 331.92, low-quality evidence). AUTHORS' CONCLUSIONS: Additional data from new studies does not alter previous conclusions of this review. If no other alternative exists, sole use of intramuscular haloperidol could be life-saving. Where additional drugs are available, sole use of haloperidol for extreme emergency could be considered unethical. Addition of the sedating promethazine has support from better-grade evidence from within randomised trials. Use of an alternative antipsychotic drug is only partially supported by fragmented and poor-grade evidence. Adding a benzodiazepine to haloperidol does not have strong evidence of benefit and carries risk of additional harm.After six decades of use for emergency rapid tranquillisation, this is still an area in need of good independent trials relevant to real-world practice.
[Mh] Termos MeSH primário: Agressão/efeitos dos fármacos
Haloperidol/administração & dosagem
Agitação Psicomotora/tratamento farmacológico
Transtornos Psicóticos/tratamento farmacológico
Tranquilizantes/uso terapêutico
[Mh] Termos MeSH secundário: Agressão/psicologia
Antipsicóticos/administração & dosagem
Antipsicóticos/efeitos adversos
Distonia/induzido quimicamente
Haloperidol/efeitos adversos
Seres Humanos
Hipnóticos e Sedativos/administração & dosagem
Hipnóticos e Sedativos/efeitos adversos
Placebos/uso terapêutico
Transtornos Psicóticos/psicologia
Ensaios Clínicos Controlados Aleatórios como Assunto
Sono
Tranquilizantes/efeitos adversos
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Antipsychotic Agents); 0 (Hypnotics and Sedatives); 0 (Placebos); 0 (Tranquilizing Agents); J6292F8L3D (Haloperidol)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170801
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD009377.pub3


  8 / 5411 MEDLINE  
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[PMID]:28700507
[Au] Autor:Park D
[Ad] Endereço:Department of Rehabilitation Medicine, Daegu Fatima Hospital, Daegu, South Korea.
[Ti] Título:Pramipexole-induced limb dystonia and its associated complex regional pain syndrome in idiopathic Parkinson's disease: A case report.
[So] Source:Medicine (Baltimore);96(28):e7530, 2017 Jul.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: This case may be due to basal ganglia dysfunction, which was probably caused by abnormal activation of dopamine 1-like receptor (D1R) boosted by pramipexole binding on dopamine 3-like receptor (D3R) in a situation where D3R was overexpressed by the chronic treatment of L-dopa. PATIENT CONCERNS: Striatal hand and foot deformities. DIAGNOSES: Striatal hand and foot deformities with CRPS. INTERVENTIONS: Steroid treatemnt and withdrawal of the pramipexole. OUTCOMES: Recovered significantly. LESSONS: Since the degree of overexpression of D3R is increased in a high dose of pramipexole, for patients with PD who are treated with L-dopa chronically, a new use of pramipexole and an increase in dose to alleviate the symptoms of PD should be implemented with caution while closely observing the occurrence of drug-induced complications such as dystonia and CRPS.
[Mh] Termos MeSH primário: Antiparkinsonianos/efeitos adversos
Benzotiazóis/efeitos adversos
Síndromes da Dor Regional Complexa/induzido quimicamente
Distonia/induzido quimicamente
Doença de Parkinson/tratamento farmacológico
[Mh] Termos MeSH secundário: Idoso
Antiparkinsonianos/uso terapêutico
Benzotiazóis/uso terapêutico
Síndromes da Dor Regional Complexa/tratamento farmacológico
Distonia/tratamento farmacológico
Feminino

Mãos
Seres Humanos
Doença de Parkinson/complicações
Prednisolona/uso terapêutico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antiparkinson Agents); 0 (Benzothiazoles); 83619PEU5T (pramipexole); 9PHQ9Y1OLM (Prednisolone)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170730
[Lr] Data última revisão:
170730
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007530


  9 / 5411 MEDLINE  
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[PMID]:28697333
[Au] Autor:Yellajoshyula D; Liang CC; Pappas SS; Penati S; Yang A; Mecano R; Kumaran R; Jou S; Cookson MR; Dauer WT
[Ad] Endereço:Department of Neurology, University of Michigan Medical School, 109 Zina Pitcher Place, Ann Arbor, MI 48109, USA.
[Ti] Título:The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
[So] Source:Dev Cell;42(1):52-67.e4, 2017 Jul 10.
[Is] ISSN:1878-1551
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The childhood-onset motor disorder DYT6 dystonia is caused by loss-of-function mutations in the transcription factor THAP1, but the neurodevelopmental processes in which THAP1 participates are unknown. We find that THAP1 is essential for the timing of myelination initiation during CNS maturation. Conditional deletion of THAP1 in the CNS retards maturation of the oligodendrocyte (OL) lineage, delaying myelination and causing persistent motor deficits. The CNS myelination defect results from a cell-autonomous requirement for THAP1 in the OL lineage and is recapitulated in developmental assays performed on OL progenitor cells purified from Thap1 null mice. Loss of THAP1 function disrupts a core set of OL maturation genes and reduces the DNA occupancy of YY1, a transcription factor required for OL maturation. These studies establish a role for THAP1 transcriptional regulation at the inception of myelination and implicate abnormal timing of myelination in the pathogenesis of childhood-onset dystonia.
[Mh] Termos MeSH primário: Linhagem da Célula
Proteínas de Ligação a DNA/metabolismo
Distonia/metabolismo
Distonia/patologia
Bainha de Mielina/metabolismo
Oligodendroglia/metabolismo
Oligodendroglia/patologia
[Mh] Termos MeSH secundário: Animais
Diferenciação Celular
Sistema Nervoso Central/patologia
Imunoprecipitação da Cromatina
Proteínas de Ligação a DNA/deficiência
Distonia/genética
Distonia/fisiopatologia
Deleção de Genes
Regulação da Expressão Gênica
Camundongos Knockout
Atividade Motora
Células-Tronco/metabolismo
Fator de Transcrição YY1/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (THAP1 protein, mouse); 0 (YY1 Transcription Factor)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170712
[St] Status:MEDLINE


  10 / 5411 MEDLINE  
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[PMID]:28678830
[Au] Autor:Buhmann C; Huckhagel T; Engel K; Gulberti A; Hidding U; Poetter-Nerger M; Goerendt I; Ludewig P; Braass H; Choe CU; Krajewski K; Oehlwein C; Mittmann K; Engel AK; Gerloff C; Westphal M; Köppen JA; Moll CKE; Hamel W
[Ad] Endereço:Klinik für Neurologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
[Ti] Título:Adverse events in deep brain stimulation: A retrospective long-term analysis of neurological, psychiatric and other occurrences.
[So] Source:PLoS One;12(7):e0178984, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND OBJECTIVE: The extent to which deep brain stimulation (DBS) can improve quality of life may be perceived as a permanent trade-off between neurological improvements and complications of therapy, comorbidities, and disease progression. PATIENTS AND METHODS: We retrospectively investigated 123 consecutive and non-preselected patients. Indications for DBS surgery were Parkinson's disease (82), dystonia (18), tremor of different etiology (21), Huntington's disease (1) and Gilles de la Tourette syndrome (1). AEs were defined as any untoward clinical occurrence, sign or patient complaint or unintended disease if related or unrelated to the surgical procedures, implanted devices or ongoing DBS therapy. RESULTS: Over a mean/median follow-up period of 4.7 years (578 patient-years) 433 AEs were recorded in 106 of 123 patients (86.2%). There was no mortality or persistent morbidity from the surgical procedure. All serious adverse events (SAEs) that occurred within 4 weeks of surgery were reversible. Neurological AEs (193 in 85 patients) and psychiatric AEs (78 in 48 patients) were documented most frequently. AEs in 4 patients (suicide under GPI stimulation, weight gain >20 kg, impairment of gait and speech, cognitive decline >2 years following surgery) were severe or worse, at least possibly related to DBS and non reversible. In PD 23.1% of the STN-stimulated patients experienced non-reversible (or unknown reversibility) AEs that were at least possibly related to DBS in the form of impaired speech or gait, depression, weight gain, cognitive disturbances or urinary incontinence (severity was mild or moderate in 15 of 18 patients). Age and Hoehn&Yahr stage of STN-simulated PD patients, but not preoperative motor impairment or response to levodopa, showed a weak correlation (r = 0.24 and 0.22, respectively) with the number of AEs. CONCLUSIONS: DBS-related AEs that were severe or worse and non-reversible were only observed in PD (4 of 82 patients; 4.9%), but not in other diseases. PD patients exhibited a significant risk for non-severe AEs most of which also represented preexisting and progressive axial and non-motor symptoms of PD. Mild gait and/or speech disturbances were rather frequent complaints under VIM stimulation. GPI stimulation for dystonia could be applied with negligible DBS-related side effects.
[Mh] Termos MeSH primário: Estimulação Encefálica Profunda/efeitos adversos
Estimulação Encefálica Profunda/métodos
Transtornos Mentais/etiologia
Doenças do Sistema Nervoso/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Distonia/etiologia
Feminino
Seguimentos
Transtornos Neurológicos da Marcha/etiologia
Seres Humanos
Masculino
Meia-Idade
Avaliação de Resultados (Cuidados de Saúde)/métodos
Avaliação de Resultados (Cuidados de Saúde)/estatística & dados numéricos
Qualidade de Vida
Estudos Retrospectivos
Distúrbios da Fala/etiologia
Tremor/etiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170706
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0178984



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