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[PMID]:29381960
[Au] Autor:He ZF; Chen J; Zhou CN; Rao Z; Wang XH
[Ad] Endereço:Department of Pharmacy.
[Ti] Título:Disabling tremor induced by long-term use of sodium valproate and lamotrigine: Case report.
[So] Source:Medicine (Baltimore);96(47):e8711, 2017 Nov.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Sodium valproate (VPA) and lamotrigine (LTG) are widely used antiepileptic drugs, disabling postural, and action tremors after using LTG with VPA were reported in 1993. However, in this study, we describe a patient in whom disabling resting-type tremor induced by 2-year use of VPA and LTG. PATIENT CONCERNS: A 50-year old man was referred to department of neurology because of involuntary upper limbs resting-type tremor with high amplitude that had begun 6 months previously and progressively worsened, and he could not work on the day of visit. Furthermore, he had been treated with VPA, LTG, and benzhexol for 2 years as he suffered from twitch of eyelids and facial region, and amantadine, monolithic compound preparation (flupentixol and melitracen) were added in the last 2 months because of tremor and anxiety. However, the treatment had no benefit on improving involuntary movements of the patient. DIAGNOSES: Drug-induced disabling tremor was diagnosed. INTERVENTIONS AND OUTCOMES: LTG, amantadine, and VPA were withdrawn, the remaining 2 drugs, benzhexol and compound preparation (flupentixol and melitracen), were continued to use, and the patient improved in 2.5 months after discontinuation of 3 drugs. There was no recurrence at 6 months follow-up. LESSONS: Considering the wide and long-term utilization of VPA and LTG, healthcare providers should be aware of them as a possible cause of tremor. When necessary, an attempt of discontinuing the suspected drugs should be made to confirm the diagnosis, instead of symptomatic treatment, especially when the adverse event was severe and fatal.
[Mh] Termos MeSH primário: Anticonvulsivantes/efeitos adversos
Discinesia Induzida por Medicamentos/diagnóstico
Triazinas/efeitos adversos
Ácido Valproico/efeitos adversos
[Mh] Termos MeSH secundário: Amantadina/uso terapêutico
Anticonvulsivantes/uso terapêutico
Antiparkinsonianos/uso terapêutico
Discinesia Induzida por Medicamentos/tratamento farmacológico
Discinesias/tratamento farmacológico
Seres Humanos
Masculino
Meia-Idade
Triazinas/uso terapêutico
Triexifenidil/uso terapêutico
Ácido Valproico/uso terapêutico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants); 0 (Antiparkinson Agents); 0 (Triazines); 614OI1Z5WI (Valproic Acid); 6RC5V8B7PO (Trihexyphenidyl); BF4C9Z1J53 (Amantadine); U3H27498KS (lamotrigine)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008711


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[PMID]:27776889
[Au] Autor:Dahl R
[Ad] Endereço:Neurodon LLC, 5700 Tanager St., Schererville, IN 46375, USA. Electronic address: rdahl@neurodon.net.
[Ti] Título:A new target for Parkinson's disease: Small molecule SERCA activator CDN1163 ameliorates dyskinesia in 6-OHDA-lesioned rats.
[So] Source:Bioorg Med Chem;25(1):53-57, 2017 01 01.
[Is] ISSN:1464-3391
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Endoplasmic reticulum (ER) stress is intimately linked to Parkinson's disease (PD) pathophysiology. Disrupted intracellular calcium homeostasis is a major cause of the ER stress seen in dopaminergic neurons, leading to the cell death and subsequent loss of movement and coordination in patients. Dysfunctional calcium handling proteins play a major role in the promulgation of ER stress in PD. Specifically, compromised sarco/endoplasmic reticulum Ca -ATPase (SERCA) has been identified as a major cause of ER stress and neuron loss in PD. We have identified a small molecule activator of SERCA that increases ER calcium content, rescues neurons from ER stress-induced cell death in vitro, and shows significant efficacy in the rat 6-hydroxydopamine (6-OHDA) model of PD. Together, these results support targeting SERCA activation as a viable strategy to develop disease-modifying therapeutics for PD.
[Mh] Termos MeSH primário: Aminoquinolinas/uso terapêutico
Benzamidas/uso terapêutico
Discinesias/tratamento farmacológico
Ativadores de Enzimas/uso terapêutico
Oxidopamina
Doença de Parkinson Secundária/tratamento farmacológico
ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático/metabolismo
[Mh] Termos MeSH secundário: Animais
Cálcio/metabolismo
Morte Celular/efeitos dos fármacos
Descoberta de Drogas
Discinesias/complicações
Discinesias/metabolismo
Estresse do Retículo Endoplasmático/efeitos dos fármacos
Masculino
Doença de Parkinson Secundária/complicações
Doença de Parkinson Secundária/metabolismo
Ratos
Ratos Wistar
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Aminoquinolines); 0 (Benzamides); 0 (CDN1163); 0 (Enzyme Activators); 8HW4YBZ748 (Oxidopamine); EC 3.6.3.8 (Sarcoplasmic Reticulum Calcium-Transporting ATPases); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171207
[Lr] Data última revisão:
171207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[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]:28816119
[Au] Autor:Monbaliu E; Himmelmann K; Lin JP; Ortibus E; Bonouvrié L; Feys H; Vermeulen RJ; Dan B
[Ad] Endereço:Department of Rehabilitation Sciences, KU Leuven, Leuven, Belgium; Dominiek Savio Instituut, Gits, Belgium.
[Ti] Título:Clinical presentation and management of dyskinetic cerebral palsy.
[So] Source:Lancet Neurol;16(9):741-749, 2017 Sep.
[Is] ISSN:1474-4465
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Cerebral palsy is the most frequent cause of severe physical disability in childhood. Dyskinetic cerebral palsy (DCP) is the second most common type of cerebral palsy after spastic forms. DCP is typically caused by non-progressive lesions to the basal ganglia or thalamus, or both, and is characterised by abnormal postures or movements associated with impaired tone regulation or movement coordination. In DCP, two major movement disorders, dystonia and choreoathetosis, are present together most of the time. Dystonia is often more pronounced and severe than choreoathetosis, with a major effect on daily activity, quality of life, and societal participation. The pathophysiology of both movement disorders is largely unknown. Some emerging hypotheses are an imbalance between indirect and direct basal ganglia pathways, disturbed sensory processing, and impaired plasticity in the basal ganglia. Rehabilitation strategies are typically multidisciplinary. Use of oral drugs to provide symptomatic relief of the movement disorders is limited by adverse effects and the scarcity of evidence that the drugs are effective. Neuromodulation interventions, such as intrathecal baclofen and deep brain stimulation, are promising options.
[Mh] Termos MeSH primário: Paralisia Cerebral/fisiopatologia
Discinesias/fisiopatologia
[Mh] Termos MeSH secundário: Paralisia Cerebral/terapia
Discinesias/terapia
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170818
[St] Status:MEDLINE


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[PMID]:28771404
[Au] Autor:Collins M; Young M
[Ad] Endereço:Department of Pediatrics, Howard University College of Medicine and Hospital, Washington, District of Columbia m_collins@howard.edu.
[Ti] Título:Benign Neonatal Shudders, Shivers, Jitteriness, or Tremors: Early Signs of Vitamin D Deficiency.
[So] Source:Pediatrics;140(2), 2017 Aug.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Jitteriness and tremors in the newborn period typically precipitate an extensive, invasive, and expensive search for the etiology. Vitamin D deficiency has not been historically included in the differential of tremors. We report a shivering, jittery newborn who was subjected to a battery of testing, with the only biochemical abnormality being vitamin D deficiency. A second case had chin tremors and vitamin D deficiency. Review of our patients suggests that shudders, shivers, jitteriness, or tremors may be the earliest sign of vitamin D deficiency in the newborn. Neonates who present with these signs should be investigated for vitamin D deficiency.
[Mh] Termos MeSH primário: Discinesias/etiologia
Doenças do Recém-Nascido/diagnóstico
Tremor por Sensação de Frio
Tremor/etiologia
Deficiência de Vitamina D/diagnóstico
Vitamina D/análogos & derivados
[Mh] Termos MeSH secundário: Diagnóstico Diferencial
Discinesias/sangue
Seres Humanos
Lactente
Recém-Nascido
Doenças do Recém-Nascido/sangue
Masculino
Tremor/sangue
Vitamina D/sangue
Deficiência de Vitamina D/sangue
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
1406-16-2 (Vitamin D); 64719-49-9 (25-hydroxyvitamin D)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170804
[St] Status:MEDLINE


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[PMID]:28766954
[Au] Autor:Mezzedimi C; Livi W; De Felice C; Cocca S
[Ad] Endereço:1 Department of Medicine, Surgery and Neuroscience, ENT Clinic, University Hospital of Siena, Viale Bracci 14, 53100 Siena, Italy.
[Ti] Título:Dysphagia in Rett Syndrome: A Descriptive Study.
[So] Source:Ann Otol Rhinol Laryngol;126(9):640-645, 2017 Sep.
[Is] ISSN:1943-572X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. METHODS: The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS. Speech evaluation associated with observation during mealtimes was useful to formulate suggestions for caregivers. RESULTS: Progressive deterioration of feeding was commonly noted by caregivers. Fifty-four patients had a history of recurrent episodes of bronchitis. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most common findings in all patients. CONCLUSIONS: Dysphagia was primarily limited to oral preparatory phases, while the pharyngeal phase was normal in most patients. The high percentage of dysphagia suggests the need to accurately monitor the feeding capability of RS children. It is critical to correctly inform caregivers about safe swallowing procedures to reduce the incidence of fatal complications.
[Mh] Termos MeSH primário: Apraxias/fisiopatologia
Transtornos de Deglutição/fisiopatologia
Discinesias/fisiopatologia
Síndrome de Rett/fisiopatologia
Língua/fisiopatologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Apraxias/complicações
Criança
Pré-Escolar
Deglutição
Transtornos de Deglutição/etiologia
Discinesias/complicações
Feminino
Seres Humanos
Faringe/fisiopatologia
Síndrome de Rett/complicações
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170803
[St] Status:MEDLINE
[do] DOI:10.1177/0003489417723033


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[PMID]:28566610
[Au] Autor:Takei YI; Koshihara H; Oguchi K; Oyanagi K; Ohara S
[Ad] Endereço:Department of Neurology, NHO Matsumoto Medical Center, Chushin-Matsumoto Hospital, Japan.
[Ti] Título:An Autopsy Case of Respiratory Failure Induced by Repetitive Cervical Spinal Cord Damage due to Abnormal Movement of the Neck in Athetoid Cerebral Palsy.
[So] Source:Intern Med;56(11):1425-1430, 2017.
[Is] ISSN:1349-7235
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:We herein report the clinical and autopsy findings of a 48-year-old right-handed man with athetoid cerebral palsy who suffered from cervical myelopathy due to abnormal neck movement, and who died of respiratory failure. Pathologically, the external appearance of the ventral surface of the cervical spinal cord revealed a linear indentation running obliquely at the level between the C4 and C5 segments. In the most severely compressed lesion, the gray matter was predominantly affected and severely atrophic. Microscopically, clusters of oligodendrocytes associated with thinly myelinated axons were also observed in the lateral funiculus. The latter findings are unique, and could be interpreted as regenerative and/or restorative phenomena of the central nervous system following chronic repetitive spinal cord compression.
[Mh] Termos MeSH primário: Paralisia Cerebral/complicações
Vértebras Cervicais/patologia
Discinesias/complicações
Insuficiência Respiratória/etiologia
Compressão da Medula Espinal/complicações
[Mh] Termos MeSH secundário: Autopsia
Seres Humanos
Masculino
Meia-Idade
Pescoço
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171108
[Lr] Data última revisão:
171108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170602
[St] Status:MEDLINE
[do] DOI:10.2169/internalmedicine.56.7411


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[PMID]:28532905
[Au] Autor:Mulders AEP; Leentjens AFG; Schruers K; Duits A; Ackermans L; Temel Y
[Ad] Endereço:Department of Neurosurgery, Maastricht University Medical Center, Maastricht, the Netherlands; Department of Psychiatry and Neuropsychology, Maastricht University Medical Center, Maastricht, the Netherlands; Department of Neuroscience, Maastricht University Medical Center, Maastricht, the Netherland
[Ti] Título:Choreatic Side Effects of Deep Brain Stimulation of the Anteromedial Subthalamic Nucleus for Treatment-Resistant Obsessive-Compulsive disorder.
[So] Source:World Neurosurg;104:1048.e9-1048.e13, 2017 Aug.
[Is] ISSN:1878-8769
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Patients with treatment-resistant obsessive-compulsive disorder (OCD) are potential candidates for deep brain stimulation (DBS). The anteromedial subthalamic nucleus (STN) is among the most commonly used targets for DBS in OCD. CASE DESCRIPTION: We present a patient with a 30-year history of treatment-resistant OCD who underwent anteromedial STN-DBS. Despite a clear mood-enhancing effect, stimulation caused motor side effects, including bilateral hyperkinesia, dyskinesias, and sudden large amplitude choreatic movements of arms and legs when stimulating at voltages greater than approximately 1.5 V. DBS at lower amplitudes and at other contact points failed to result in a significant reduction of obsessions and compulsions without inducing motor side effects. Because of this limitation in programming options, we decided to reoperate and target the ventral capsule/ventral striatum (VC/VS), which resulted in a substantial reduction in key obsessive and compulsive symptoms without serious side effects. CONCLUSIONS: Choreatic movements and hemiballismus have previously been linked to STN dysfunction and have been incidentally reported as side effects of DBS of the dorsolateral STN in Parkinson disease (PD). However, in PD, these side effects were usually transient, and they rarely interfered with DBS programming. In our patient, the motor side effects were persistent, and they made optimal DBS programming impossible. To our knowledge, such severe and persistent motor side effects have not been described previously for anteromedial STN-DBS.
[Mh] Termos MeSH primário: Coreia/etiologia
Estimulação Encefálica Profunda/efeitos adversos
Hipercinese/etiologia
Transtorno Obsessivo-Compulsivo/terapia
Núcleo Subtalâmico
Estriado Ventral
[Mh] Termos MeSH secundário: Discinesias/etiologia
Feminino
Seres Humanos
Meia-Idade
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170524
[St] Status:MEDLINE


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[PMID]:28362987
[Au] Autor:Liu CT; Yuan XJ; Gao GC
[Ad] Endereço:Department of Orthopedics, Medical College of Nanchang University, Nanchang, Jiangxi, China changtieliu@163.com.
[Ti] Título:Effects of alendronate on osteoporosis treatment and levels of related cytokines.
[So] Source:Genet Mol Res;16(1), 2017 Mar 16.
[Is] ISSN:1676-5680
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Alendronate regulates the activity of osteoclasts and healing of osteoporosis. This study investigated the effect of alendronate on bone healing and changes in the levels of cytokines. Bilateral ovaries of 10 adult female rabbits were removed surgically in aseptic condition to establish the animal model of osteoporosis. Five rabbits in group A were treated with alendronate (1.15 mg·kg ·week ) once a week by a stomach tube, whereas the remaining 5 in group B were treated with physiological saline. The success of the animal model establishment and the efficacy of alendronate treatment were evaluated by the sports ability score and the Basso, Beattie, and Bresnahan (BBB) score; the healing degree of osteoporosis was determined by X-ray analysis and measurement of biomechanical properties; the changes in the levels of related cytokines were measured by enzyme-linked immunosorbent assay (ELISA) and immunohistochemical staining. Treatment improved dyskinesia of the animals in group A than that in group B, with significant improvement occurring in the 4th week of treatment. The BBB score of the group A animals revealed movements similar to normal, but that of the group B animals exhibited significant motor disturbance (P < 0.01). X-ray examination showed that with time, the X-ray ratings increased. Measurement of the biomechanical properties further showed that alendronate had a positive effect on osteoporosis healing. The results of ELISA and immunohistochemistry showed that the levels of ALP, BMP-2, bFGF, and IGF-1 were upregulated in group A. In conclusion, alendronate accelerated osteoporosis healing probably via certain cytokine-related mechanism.
[Mh] Termos MeSH primário: Alendronato/administração & dosagem
Conservadores da Densidade Óssea/administração & dosagem
Citocinas/metabolismo
Discinesias/tratamento farmacológico
Osteoporose/tratamento farmacológico
[Mh] Termos MeSH secundário: Alendronato/farmacologia
Animais
Conservadores da Densidade Óssea/farmacologia
Proteína Morfogenética Óssea 2/metabolismo
Modelos Animais de Doenças
Feminino
Fator 2 de Crescimento de Fibroblastos/metabolismo
Seres Humanos
Fator de Crescimento Insulin-Like I/metabolismo
Osteoporose/etiologia
Osteoporose/imunologia
Ovariectomia/efeitos adversos
Coelhos
Resultado do Tratamento
Regulação para Cima
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bone Density Conservation Agents); 0 (Bone Morphogenetic Protein 2); 0 (Cytokines); 103107-01-3 (Fibroblast Growth Factor 2); 67763-96-6 (Insulin-Like Growth Factor I); X1J18R4W8P (Alendronate)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170406
[Lr] Data última revisão:
170406
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170401
[St] Status:MEDLINE
[do] DOI:10.4238/gmr16019485


  10 / 1586 MEDLINE  
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[PMID]:28341645
[Au] Autor:Pearson TS; Pons R; Engelstad K; Kane SA; Goldberg ME; De Vivo DC
[Ad] Endereço:From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G
[Ti] Título:Paroxysmal eye-head movements in Glut1 deficiency syndrome.
[So] Source:Neurology;88(17):1666-1673, 2017 Apr 25.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). METHODS: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. RESULTS: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually <5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye-head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement. CONCLUSIONS: Paroxysmal eye-head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia
Discinesias/fisiopatologia
Movimentos Oculares
Movimentos da Cabeça
Proteínas de Transporte de Monossacarídeos/deficiência
[Mh] Termos MeSH secundário: Erros Inatos do Metabolismo dos Carboidratos/tratamento farmacológico
Criança
Discinesias/tratamento farmacológico
Feminino
Seres Humanos
Lactente
Masculino
Estudos Retrospectivos
Convulsões/tratamento farmacológico
Convulsões/fisiopatologia
Gravação em Vídeo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Monosaccharide Transport Proteins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170326
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000003867



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