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[PMID]:28743241
[Au] Autor:Herath HMMTB; Pahalagamage SP; Withana D; Senanayake S
[Ad] Endereço:National Hospital, Colombo, Sri Lanka. tharukaherath11@gmail.com.
[Ti] Título:Complete ophthalmoplegia, complete ptosis and dilated pupil due to internal carotid artery dissection: as the first manifestation of Takayasu arteritis.
[So] Source:BMC Cardiovasc Disord;17(1):201, 2017 07 25.
[Is] ISSN:1471-2261
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Takayasu arteritis is a rare, chronic large vessel vasculitis involving the aorta and its primary branches. As the disease progresses, the active inflammation of large vessels leads to dilation, narrowing and occlusion of the arteries. Arterial dissection is due to separation of the layers of the arterial wall resulting in a false lumen, where blood seeps into the vessel wall. Neurological sequelae of intracranial arterial dissection results from cerebral ischemia due to thromboembolism and hypo perfusion. Internal carotid artery dissection in Takayasu arteritis is very rare and complete ophthalmoplegia due to internal carotid artery dissection is also rare. This is the first case report of Takayasu arteritis presenting as complete ophthalmoplegia due to internal carotid artery dissection. CASE PRESENTATION: A 38-year-old Sri Lankan female presented with sudden onset severe headache, fixed dilated pupil, complete ptosis and ophthalmoplegia on the right side. On imaging, dissection and dilatation was evident in the right internal carotid artery from the origin up to the cavernous segment. She also had stenosis and aneurysmal dilatation of right subclavian artery. Takayasu arteritis was diagnosed subsequently. She was started on aspirin and high dose steroids. CONCLUSIONS: Internal carotid artery dissection within the cavernous sinus can lead to third, fourth and sixth nerve palsy due to compression, stretching and ischemia from occlusion of the nutritional arteries. This case report illustrates that internal carotid artery dissection should be a differential diagnosis in palsies of the third, fourth, or sixth cranial nerves, especially when associated with headache. In cases of internal carotid artery dissection, vasculitis such as Takayasu arteritis should also be considered.
[Mh] Termos MeSH primário: Aneurisma Dissecante/etiologia
Blefaroptose/etiologia
Doenças das Artérias Carótidas/etiologia
Artéria Carótida Interna
Aneurisma Intracraniano/etiologia
Oftalmoplegia/etiologia
Pupila
Arterite de Takayasu/complicações
[Mh] Termos MeSH secundário: Adulto
Aneurisma Dissecante/diagnóstico por imagem
Angiografia Digital
Aspirina/administração & dosagem
Blefaroptose/diagnóstico
Blefaroptose/fisiopatologia
Doenças das Artérias Carótidas/diagnóstico por imagem
Artéria Carótida Interna/diagnóstico por imagem
Angiografia Cerebral/métodos
Angiografia por Tomografia Computadorizada
Feminino
Seres Humanos
Aneurisma Intracraniano/diagnóstico por imagem
Imagem por Ressonância Magnética
Oftalmoplegia/diagnóstico
Oftalmoplegia/fisiopatologia
Esteroides/administração & dosagem
Arterite de Takayasu/diagnóstico
Arterite de Takayasu/tratamento farmacológico
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Steroids); R16CO5Y76E (Aspirin)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.1186/s12872-017-0638-7


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[PMID]:28459979
[Au] Autor:Whitman MC; Engle EC
[Ad] Endereço:F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
[Ti] Título:Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
[So] Source:Hum Mol Genet;26(R1):R37-R44, 2017 08 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their patients and broadening our understanding of development of the ocular motor system. Genetic mutations underlying ocular CCDDs alter either motor neuron specification or motor nerve development, and highlight the importance of modulations of cell signaling, cytoskeletal transport, and microtubule dynamics for axon growth and guidance. Here we review recent advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) and Duane retraction syndrome (DRS), and discuss what they have taught us about mechanisms of axon guidance and selective vulnerability. CFEOM presents with congenital ptosis and restricted eye movements, and can be caused by heterozygous missense mutations in the kinesin motor protein KIF21A or in the ß-tubulin isotypes TUBB3 or TUBB2B. CFEOM-causing mutations in these genes alter protein function and result in axon growth and guidance defects. DRS presents with inability to abduct one or both eyes. It can be caused by decreased function of several transcription factors critical for abducens motor neuron identity, including MAFB, or by heterozygous missense mutations in CHN1, which encodes α2-chimaerin, a Rac-GAP GTPase that affects cytoskeletal dynamics. Examination of the orbital innervation in mice lacking Mafb has established that the stereotypical misinnervation of the lateral rectus by fibers of the oculomotor nerve in DRS is secondary to absence of the abducens nerve. Studies of a CHN1 mouse model have begun to elucidate mechanisms of selective vulnerability in the nervous system.
[Mh] Termos MeSH primário: Axônios/fisiologia
Síndrome da Retração Ocular/genética
Fibrose/genética
Oftalmoplegia/genética
[Mh] Termos MeSH secundário: Animais
Axônios/metabolismo
Anormalidades Congênitas
Síndrome da Retração Ocular/metabolismo
Síndrome da Retração Ocular/patologia
Oftalmopatias Hereditárias/genética
Fibrose/metabolismo
Fibrose/patologia
Seres Humanos
Cinesina/genética
Cinesina/metabolismo
Camundongos
Mutação
Mutação de Sentido Incorreto
Transtornos da Motilidade Ocular/genética
Músculos Oculomotores/anormalidades
Músculos Oculomotores/patologia
Oftalmoplegia/metabolismo
Oftalmoplegia/patologia
Crânio/fisiopatologia
Tubulina (Proteína)/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (KIF21A protein, human); 0 (TUBB3 protein, human); 0 (Tubulin); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx168


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[PMID]:29178265
[Au] Autor:Chang MY; Coleman AL; Tseng VL; Demer JL
[Ad] Endereço:Stein Eye Institute, UCLA, 100 Stein Plaza, Los Angeles, California, USA, 90025.
[Ti] Título:Surgical interventions for vertical strabismus in superior oblique palsy.
[So] Source:Cochrane Database Syst Rev;11:CD012447, 2017 11 27.
[Is] ISSN:1469-493X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Superior oblique palsy is a common cause of vertical strabismus in adults and children. Patients may be symptomatic from binocular vertical diplopia or compensatory head tilt required to maintain single vision. Most patients who are symptomatic elect to undergo strabismus surgery, but the optimal surgical treatment for vertical strabismus in people with superior oblique palsy is unknown. OBJECTIVES: To assess the relative effects of surgical treatments compared with another surgical intervention, non-surgical intervention, or observation for vertical strabismus in people with superior oblique palsy. SEARCH METHODS: We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (which contains the Cochrane Eyes and Vision Trials Register) (2016, Issue 12), MEDLINE Ovid (1946 to 13 December 2016), Embase Ovid (1947 to 13 December 2016), Latin American and Caribbean Health Sciences Literature Database (LILACS) (1982 to 13 December 2016), the ISRCTN registry (www.isrctn.com/editAdvancedSearch); searched 13 December 2016, ClinicalTrials.gov (www.clinicaltrials.gov); searched 13 December 2016, and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en); searched 13 December 2016. We did not use any date or language restrictions in the electronic searches for trials. SELECTION CRITERIA: We included randomized trials that compared at least one type of surgical intervention to another surgical or non-surgical intervention or observation. DATA COLLECTION AND ANALYSIS: Two review authors independently completed eligibility screening, data abstraction, 'Risk of bias' assessment, and grading of the evidence. MAIN RESULTS: We identified two randomized trials comparing four different surgical treatments for this condition, two methods in each trial. The studies included a total of 45 children and adults. The surgical treatments were all procedures to weaken the ipsilateral inferior oblique muscle. One study compared inferior oblique myectomy to recession of 10 mm; the other study compared inferior oblique disinsertion to anterior transposition (2 mm anterior to the temporal border of the inferior rectus insertion).We judged both studies to be at unclear risk of bias due to incomplete reporting of methods and other methodological deficiencies.Neither study reported data on the primary outcome of this review, which was the proportion of participants with postoperative surgical success, defined as hypertropia less than 3 prism diopters (PD) in primary gaze. However, both studies reported the average reduction in hypertropia in primary gaze. One study found that at 12 months' postoperatively the average decrease in hypertropia was higher in participants who underwent inferior oblique myectomy than in those who underwent recession, however data were not available for statistical comparison. The other trial found that after at least six months of follow-up, the mean decrease in primary position hypertropia was lower in participants who underwent inferior oblique disinsertion than in those who underwent anterior transposition (mean difference (MD) -5.20 PD, 95% confidence interval (CI) -7.76 to -2.64; moderate-quality evidence).Both trials also reported the average postoperative reduction in vertical deviation in adduction. One study reported that the average reduction in hypertropia in adduction was greater in participants who underwent inferior oblique myectomy than in those who underwent recession, but data were not available for statistical comparison. The other study found a lower decrease in hypertropia in contralateral gaze in participants who underwent inferior oblique disinsertion than in those who underwent anterior transposition (MD -7.10 PD, 95% CI -13.85 to -0.35; moderate-quality evidence).Secondary outcomes with sufficient data for analysis included proportion of participants with preoperative head tilt that resolved postoperatively and proportion of participants who underwent a second surgery. These outcomes were assessed in the trial comparing inferior oblique anterior transposition to disinsertion; both outcomes favored anterior transposition (risk ratio 7.00, 95% CI 0.40 to 121.39 for both outcomes; very low-quality evidence). None of the participants who underwent inferior oblique anterior transposition or disinsertion developed postoperative hypotropia or reversal of the vertical deviation. All participants who underwent inferior oblique anterior transposition developed elevation deficiency, which the authors deemed to be clinically insignificant in all cases, whereas no participants who underwent inferior oblique disinsertion experienced this complication. Additionally, the trial comparing inferior oblique myectomy to recession reported that no participant in either group required another strabismus surgery during the postoperative period. AUTHORS' CONCLUSIONS: The two trials included in this review evaluated four inferior oblique weakening procedures for surgical treatment of superior oblique palsy. We found no trials comparing other types of surgical procedures for this disorder. Both studies had enrolled a small number of participants and provided low-quality evidence due to limitations in completeness and applicability. We therefore found no high-quality evidence to support recommendations for optimal surgical treatment of superior oblique palsy. Rigorously designed, conducted, and reported randomized trials are needed to identify the optimal surgical treatment for vertical strabismus in this disorder.
[Mh] Termos MeSH primário: Músculos Oculomotores
Oftalmoplegia/complicações
Estrabismo/cirurgia
[Mh] Termos MeSH secundário: Adulto
Criança
Seres Humanos
Complicações Pós-Operatórias
Ensaios Clínicos Controlados Aleatórios como Assunto
Estrabismo/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180210
[Lr] Data última revisão:
180210
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD012447.pub2


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[PMID]:28742638
[Au] Autor:Rautenbach RM; Pillay K; Murray ADN; Heckmann JM
[Ad] Endereço:Neurology Research Group (RR, JMH), Department of Medicine, University of Cape Town, Cape Town, South Africa; Division of Ophthalmology (RMR), Department of Surgical Sciences, University of Stellenbosch, Belville, South Africa; Division of Anatomical Pathology (KP), Department of Pathology, University of Cape Town, Cape Town, South Africa; Division of Ophthalmology (ADNM), Department of Surgery, University of Cape Town, Cape Town, South Africa; and Division of Neurology (JMH), Department of Medicine, University of Cape Town, Cape Town, South Africa.
[Ti] Título:Extraocular Muscle Findings in Myasthenia Gravis Associated Treatment-Resistant Ophthalmoplegia.
[So] Source:J Neuroophthalmol;37(4):414-417, 2017 12.
[Is] ISSN:1536-5166
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report the histopathological and ultrastructural tissue analysis of extraocular muscle (EOM) obtained from a patient with seronegative myasthenia gravis (MG) with treatment-resistant ophthalmoplegia for 3.5 years. The EOM demonstrated predominantly myopathic features and ultrastructural evidence of mitochondrial dysfunction, but the most striking features were increased endomysial collagen and adipocyte replacement of muscle fibers. By contrast, control EOM from a patient undergoing strabismus surgery for a sensory exotropia in a nonseeing eye and a similar duration of deviation, showed normal muscle histology. Although the histopathological and ultrastructural findings largely resemble those of limb muscle in MG, the abundant endomysial collagen may be nonspecific and secondary to poor force generation as a result of chronic ophthalmoplegia.
[Mh] Termos MeSH primário: Resistência a Medicamentos
Imunossupressores/uso terapêutico
Miastenia Gravis/complicações
Músculos Oculomotores/ultraestrutura
Oftalmoplegia/etiologia
[Mh] Termos MeSH secundário: Biópsia
Feminino
Seres Humanos
Microscopia Eletrônica de Transmissão
Meia-Idade
Miastenia Gravis/diagnóstico
Miastenia Gravis/tratamento farmacológico
Oftalmoplegia/diagnóstico
Oftalmoplegia/tratamento farmacológico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Immunosuppressive Agents)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180117
[Lr] Data última revisão:
180117
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE
[do] DOI:10.1097/WNO.0000000000000534


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[PMID]:29213030
[Au] Autor:Alabri H; Lewis WD; Manjila S; Alkhachroum AM; De Georgia MA
[Ad] Endereço:Cleveland Medical Center, Case Western Reserve University, Cleveland, OH, USA.
[Ti] Título:Acute Bilateral Ophthalmoplegia Due to Vertebrobasilar Dolichoectasia: A Report of Two Cases.
[So] Source:Am J Case Rep;18:1302-1308, 2017 Dec 07.
[Is] ISSN:1941-5923
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND Vertebrobasilar dolichoectasia (VBD) is a complex progressive arterial disease characterized by dilation, elongation, and tortuosity of the vertebral and basilar arteries, and may be congenital or acquired. VBD may lead to progressive compression of the brainstem, cranial nerve abnormalities, and intracranial hemorrhage, but may also be associated with arterial thrombosis, with ischemic stroke as the most common clinical outcome. CASE REPORT Two cases of VBD are presented, both with acute bilateral ophthalmoplegia and cranial nerve palsies, and vertebrobasilar arterial thrombosis that resulted in ischemic stroke. CONCLUSIONS VBD is a complex arterial disease with a variety of clinical manifestation, with bilateral ophthalmoplegia being a rare presentation. Clinical management of VBD is a challenge as there are no current management guidelines. Therefore, clinical management of cases of VBD should be individualized to balance the risks and benefits of treatment options for each patient.
[Mh] Termos MeSH primário: Infarto Encefálico/etiologia
Trombose Intracraniana/etiologia
Oftalmoplegia/etiologia
Insuficiência Vertebrobasilar/complicações
[Mh] Termos MeSH secundário: Doença Aguda
Idoso
Infarto Encefálico/diagnóstico por imagem
Doenças dos Nervos Cranianos/etiologia
Feminino
Seres Humanos
Trombose Intracraniana/diagnóstico por imagem
Masculino
Meia-Idade
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180109
[Lr] Data última revisão:
180109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171208
[St] Status:MEDLINE


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[PMID]:28930843
[Au] Autor:Chen H; Liu T; Zeng Z; Wang Y; Lin Y; Cheng L; Pan Q; Gu F; Song Z; Zhang Z
[Ad] Endereço:aSchool of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou, Zhejiang Province bDepartment of Ophthalmology, The Third People's Hospital of Mianyang, Sichuan Province cThe Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang Province, China.
[Ti] Título:Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1.
[So] Source:Medicine (Baltimore);96(38):e8068, 2017 Sep.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The aim of the study is to characterize the clinical ocular phenotype with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) and to confirm whether the kinesin family member 21A (KIF21A) mutation was the pathogenic gene in this Chinese family.Three affected individuals and 2 asymptomatic kinsfolk from a Chinese family underwent comprehensive ophthalmic examinations, orbital computerized tomography (CT), and postoperative histological examinations were performed in the proband. All the recruited members were screened for 3 exons (8, 20, and 21) of KIF21A mutations using the polymerase chain reaction (PCR) amplification and direct sequencing of corresponding PCR products.All patients shared the clinical characteristics including bilateral ophthalmoplegia, blepharoptosis, hypertropic, and exotropic position with inability to raise either eye above the midline and a chin-up head position. Direct DNA sequence analysis from the affected members revealed a missense mutation in KIF21A (c.2860C>T, p.R954W). The unaffected members did not harbor the p.R954W mutation. The candidate mutation was not present in multiple web-accessible and in-house exome databases.The p.Arg954Trp mutation of KIF21A was the causative mutation in this Chinese pedigree with CFEOM1.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Fibrose/genética
Cinesina/genética
Mutação de Sentido Incorreto
Oftalmoplegia/genética
[Mh] Termos MeSH secundário: Adolescente
Feminino
Seres Humanos
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KIF21A protein, human); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171015
[Lr] Data última revisão:
171015
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170921
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008068


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[PMID]:28927399
[Au] Autor:Bánfai Z; Hadzsiev K; Pál E; Komlósi K; Melegh M; Balikó L; Melegh B
[Ad] Endereço:Department of Medical Genetics, University of Pécs, Szigeti út 12, Pécs, H-7624, Hungary.
[Ti] Título:Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
[So] Source:BMC Med Genet;18(1):105, 2017 Sep 19.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle muscle weakness, congenital fiber type disproportion, multi-minicore disease were also reported in connection of MYH7. Pathogeneses of the defects in the head and proximal rod region of the protein are well described. However, the C-terminal mutations of the MYH7 gene are less known. Moreover, only two articles describe the phenotypic impact of the elongated mature protein product caused by termination signal loss. CASE PRESENTATION: Here we present a male patient with an unusual phenotypic variant of early-onset and predominant involvement of neck muscles with muscle biopsy indicating myopathy and sarcoplasmic storage material. Cardiomyopathic involvements could not be observed. Sequencing of MYH7 gene revealed a stop-loss mutation on the 3-prime end of the rod region, which causes the elongation of the mature protein. CONCLUSIONS: The elongated protein likely disrupts the functions of the sarcomere by multiple functional abnormalities. This elongation could also affect the thick filament degradation leading to protein deposition and accumulation in the sarcomere, resulting in the severe myopathy of certain axial muscles. The phenotypic expression of the detected novel MYH7 genotype could strengthen and further expand our knowledge about mutations affecting the structure of MyHCI by termination signal loss in the MYH7 gene.
[Mh] Termos MeSH primário: Miosinas Cardíacas/genética
Variação Genética
Doenças Musculares/congênito
Cadeias Pesadas de Miosina/genética
[Mh] Termos MeSH secundário: Miopatias Distais/diagnóstico por imagem
Miopatias Distais/genética
Predisposição Genética para Doença
Seres Humanos
Masculino
Meia-Idade
Músculo Esquelético/patologia
Doenças Musculares/diagnóstico por imagem
Doenças Musculares/genética
Mutação
Miopatias Congênitas Estruturais/diagnóstico por imagem
Miopatias Congênitas Estruturais/genética
Oftalmoplegia/diagnóstico por imagem
Oftalmoplegia/genética
Fenótipo
Canal de Liberação de Cálcio do Receptor de Rianodina/deficiência
Canal de Liberação de Cálcio do Receptor de Rianodina/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MYH7 protein, human); 0 (Ryanodine Receptor Calcium Release Channel); EC 3.6.1.- (Cardiac Myosins); EC 3.6.4.1 (Myosin Heavy Chains)
[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:170921
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0463-y


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[PMID]:28850639
[Au] Autor:Choi DYD; Lee SM; Park KA; Oh SY
[Ad] Endereço:Samsung Medical Center, Seoul, South Korea.
[Ti] Título:Does Decreased Static Ocular Counter Rolling Account for Bielschowsky Head Tilt Test in Unilateral Superior Oblique Palsy?
[So] Source:Invest Ophthalmol Vis Sci;58(10):4268-4273, 2017 Aug 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: To understand the relationship of static ocular counter rolling (s-OCR) and clinical manifestations in acquired unilateral superior oblique palsy subjects during the Bielschowsky head tilt test. Methods: Nineteen subjects that were diagnosed with acquired unilateral superior oblique palsy were included. Fundus photographs were obtained at different head tilt angles to evaluate static ocular counter rolling using a fundus camera with a cervical range of motion device. Using a graphics editing program, we calculated s-OCR from fundus photography. Results: The incycloductional s-OCR (OCR-I) in the paretic eye was significantly smaller than the OCR-I in the fellow eye (P = 0.02, <0.001, 0.002 for 10°, 20°, and 30°, respectively, paired t-tests). In contrast, the excycloductional s-OCR (OCR-E) showed no significant difference between the paretic eye and the fellow eye for all angles. There was a significantly positive correlation between the amplitude of OCR-I in the paretic eye and the degree of hypertropia on ipsilesional head tilt (ρ = 0.612, 0.679, 0.474, P = 0.02, 0.002, 0.07 for 10°, 20°, and 30° respectively, Spearman's correlation). The amplitude of OCR-I in the paretic eye also showed a positive correlation with head tilt test difference, which is the degree of hyperdeviation difference between ipsilesional and contralesional head tilts (ρ = 0.445, 0.694, 0.579, P = 0.09, 0.002, 0.024 for 10°, 20°, and 30° respectively, Spearman's correlation). Conclusions: In unilateral SOP, OCR-I in the paretic eye was smaller than that in the fellow eye, and this was positively associated with the degree of hypertropia during ipsilesional head tilting, as well as the head tilt test difference.
[Mh] Termos MeSH primário: Técnicas de Diagnóstico Oftalmológico
Movimentos Oculares/fisiologia
Oftalmoplegia/diagnóstico
Estrabismo/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Movimentos da Cabeça/fisiologia
Seres Humanos
Masculino
Meia-Idade
Oftalmoplegia/fisiopatologia
Estudos Prospectivos
Estrabismo/fisiopatologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170830
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-22166


  9 / 7004 MEDLINE  
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[PMID]:28601853
[Au] Autor:Özdemir ZC; Kar YD; Yarar C; Þaylýsoy S; Bör Ö
[Ad] Endereço:Division of Pediatric Hematology, #Department of Pediatrics, $Division of Pediatric Neurology, ‡Department of Radiology, and *Division of Pediatric Oncology; Eskiþehir Osmangazi University Faculty of Medicine,Turkey. Correspondence to: Dr Zeynep Canan Özdemir, Division of Pediatric Hematology/Oncology, Eskiºehir Osmangazi University Faculty of Medicine, 26480, Eskipehir, Turkey. efecanan@yahoo.com.
[Ti] Título:Incomplete Miller-Fisher Syndrome with Advanced Stage Burkitt Lymphoma.
[So] Source:Indian Pediatr;54(5):413-415, 2017 May 15.
[Is] ISSN:0974-7559
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Lymphoma-associated incomplete Miller-Fisher syndrome is very rare. CASE CHARACTERISTICS: An 11-year-old boy who initially presented with headache, left ptosis, diplopia and weakness. Neurologic examination indicated left sided ptosis with ophthalmoplegia. OBSERVATIONS: Cerebral imaging and cerebrospinal fluid examinations were normal. Magnetic resonance imaging of the abdomen showed a mass lesion in the ileal loops. A bone marrow biopsy showed infiltration by Burkitt's lymphoma. MESSAGE: Burkitt lymphoma may present with incomplete Miller Fisher syndrome.
[Mh] Termos MeSH primário: Linfoma de Burkitt
Síndrome de Miller Fisher
[Mh] Termos MeSH secundário: Criança
Seres Humanos
Masculino
Oftalmoplegia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170623
[Lr] Data última revisão:
170623
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170612
[St] Status:MEDLINE


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[PMID]:28601810
[Au] Autor:Evoli A; Alboini PE; Iorio R; Damato V; Bartoccioni E
[Ad] Endereço:Institute of Neurology, Catholic University, Fondazione Policlinico A. Gemelli, Rome, Italy.
[Ti] Título:Pattern of ocular involvement in myasthenia gravis with MuSK antibodies.
[So] Source:J Neurol Neurosurg Psychiatry;88(9):761-763, 2017 Sep.
[Is] ISSN:1468-330X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Myasthenia gravis (MG) with antibodies to the muscle-specific kinase (MuSK) has a characteristic phenotype. Ocular manifestations have not been systematically evaluated. OBJECTIVE: To investigate the features of extrinsic ocular muscle involvement in patients with MuSK-MG. METHODS: We retrospectively evaluated the prevalence, time of onset, clinical pattern and outcome of ocular symptoms in 82 patients with a clinical follow-up ≥2 years. RESULTS: Ocular manifestations were observed in 79 patients (96.4%) and were the presenting symptoms in 48 (58.5%). Intermittent diplopia with subtle ophthalmoparesis was the most common complaint, ptosis was generally symmetrical and conjugated gaze paresis occurred in 35% of the patients. Ocular manifestations responded well to prednisone and partially to symptomatic treatment. A few patients developed chronic symmetrical ophthalmoparesis, associated with persistent weakness in other muscle groups. All patients with ocular presentation progressed to generalised disease, though weakness spread to other muscle groups was considerably delayed in a few cases. CONCLUSIONS: In MG with antibodies to MuSK, ocular manifestations were as frequent as in other disease subtypes. Symmetrical ophthalmoparesis with conjugated gaze limitation was rather common and associated with low functional disability. A proportion of these patients developed chronic eye muscle paresis.
[Mh] Termos MeSH primário: Autoanticorpos
Miastenia Gravis/diagnóstico
Miastenia Gravis/imunologia
Receptores Proteína Tirosina Quinases
Receptores Colinérgicos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anti-Inflamatórios/uso terapêutico
Criança
Pré-Escolar
Diplopia/epidemiologia
Olho
Feminino
Seres Humanos
Masculino
Oftalmoplegia/epidemiologia
Prednisona/uso terapêutico
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents); 0 (Autoantibodies); 0 (Receptors, Cholinergic); EC 2.7.10.1 (MUSK protein, human); EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases); VB0R961HZT (Prednisone)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171114
[Lr] Data última revisão:
171114
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170612
[St] Status:MEDLINE
[do] DOI:10.1136/jnnp-2017-315782



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