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BACKGROUND: Benign essential blepharospasm (BEB) is the most common adult-onset focal facial dystonia and its treatment of choice is periodic application of botulinum toxin (BtA). It has a higher incidence in middle and late adulthood, especially in women between 40 and 60 years of age. OBJECTIVE: To carry out the translation and cross-cultural adaptation of the CDQ24 questionnaire in its Spanish version in patients diagnosed with BEB who have been treated with BtA in an ophthalmologic center in Bogotá - Colombia. MATERIALS AND METHODS: Pilot test of validation study and adaptation of a scale assembled in a prospective cohort of the CDQ24 instrument to Spanish in adult patients with primary blepharospasm treated with botulinum toxin in Bogota, Colombia. RESULTS: We obtained a sample of 26 patients to whom the instrument was applied after translation and retranslation of the original document, composed of 19 (73%) women with a median age of 64.5 years; the average time to answer the survey was 4.93 min. The internal consistency of the scale evaluated by Cronbach's Alpha had a total score of 0.78. Criterion validity between the CDQ24 scale and the WHOQOL-BREF quality of life scale was determined by determining correlation between the Emotional Well-Being and Phsychological domains of both scales. CONCLUSIONS: The translation and cross-cultural adaptation of the CDQ-24 scale into Spanish allowed the applicability of the instrument to the Spanish-speaking population during the pilot test, which allows us to continue the relevant studies in the study population.

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ABSTRACT Purpose: Information is scarce regarding the comprehensive profile of patients with essential blepharospasm and hemifacial spasm in Brazil. The present study aimed to assess the clinical features of patients with these conditions, followed up in two reference centers in Brazil. Methods: The study included patients with essential blepharospasm and hemifacial spasm, followed up at the Departments of Ophthalmology at Universidade Federal de São Paulo and Universidade de São Paulo. Apart from demographic and clinical features, past stressful events related to the first symptoms (triggering event), aggravating factors, sensory tricks, and other ameliorating factors for the eyelid spasms were assessed. Results: A total of 102 patients were included in this study. Most patients were female (67.7%). Essential blepharospasm was the most frequent movement disorder [51/102 patients (50%)], followed by hemifacial spasm (45%) and Meige's syndrome (5%). In 63.5% of the patients, the onset of the disorder was associated with a past stressful event. Ameliorating factors were reported by 76.5% of patients; 47% of patients reported sensory tricks. In addition, 87% of the patients reported the presence of an aggravating factor for the spasms; stress (51%) was the most frequent. Conclusion: Our study provides information regarding the clinical features of patients treated in the two largest ophthalmology reference centers in Brazil.

RESUMO Objetivo: Há poucos dados sobre o perfil de pacientes com blefaroespasmo essencial e espasmo hemifacial no Brasil. O objetivo deste estudo é avaliar de forma mais abrangente as características clínicas dos pacientes portadores dessas doenças acompanhados em dois centros de referência em oftalmologia no Brasil. Métodos: Pacientes com blefaroespasmo essencial e espasmo hemifacial, acompanhados nos Departamentos de Oftalmologia da Universidade Federal de São Paulo e da Universidade de São Paulo foram incluídos neste estudo. Além dos dados clínicos e demográficos, foram avaliados também a presença de eventos estressantes relacionados ao início dos sintomas (evento desencadeante), fatores agravantes, truques sensoriais, e outros fatores de melhora. Resultados: Cento e dois pacientes foram incluídos no estudo. A maior parte dos pacientes era do sexo feminino (67,7%). Blefaroespasmo essencial foi a condição mais frequente, observada em 51 (50%) dos pacientes. Espasmo hemifacial correspondia a 45% dos casos, enquanto 5% dos pacientes apresentavam a Síndrome de Meige. 63,5% dos pacientes associaram o início dos sintomas com um evento estressante prévio. 76,5% dos pacientes relataram fatores de melhora para os espasmos; 47% relataram truques sensoriais. Além disso, 87% dos pacientes relataram fatores de piora; estresse (51%) foi o mais frequente. Conclusão: Este estudo fornece informações a respeito das características clínicas dos pacientes com blefaroespasmo essencial e espasmo hemifacial acompanhados nos dois maiores centros de referência em oftalmologia do Brasil.

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Abstract Background The application of botulinum toxin (BoNT) in the treatment of blepharospasm and hemifacial spasm (HS) is a well-established practice. However, neurology residency programs often rely on real patients for training, which has limitations in terms of patient availability and skill acquisition. Objective Assess the efficacy of a new facial phantom model for acquiring motor skills in BoNT application. Methods An anthropomorphic facial phantom model was developed in collaboration with a medical training simulator start-up. A group of seven neurologists and one ophthalmologist with expertise in BoNT application evaluated the model using an adapted learning object review instrument (LORI). The instrument assessed aspects such as: content quality, alignment of learning objectives, feedback and adaptation, motivation, presentation design, and accessibility. Results The facial phantom model received high scores in the LORI evaluation, with the highest ratings given to alignment with learning objectives and motivation. The model also scored well in terms of accessibility, content quality, and presentation design. However, feedback and adaptation received a lower score due to the static nature of the model. Conclusion The facial phantom model shows promise as a valuable tool for teaching and developing competence in BoNT application for HS and blepharospasm. The model reduces the reliance on real patients for training, providing a broader and safer learning experience for neurology residents. It also provides a realistic learning experience and offers portability, cost-effectiveness, and ease of manufacturing for use in various medical training scenarios. It is an effective and accessible tool for teaching BoNT application.

Resumo Antecedentes A aplicação de toxina botulínica (TxB) no tratamento do blefaroespasmo e do espasmo hemifacial (EH) é uma prática bem estabelecida. No entanto, os programas de residência em neurologia frequentemente dependem de pacientes reais para treinamento, o que apresenta limitações em termos de disponibilidade de pacientes e aquisição de habilidades. Objetivo Avaliar a eficácia de um novo modelo de manequim facial para aquisição de habilidades motoras na aplicação de TxB. Métodos Foi desenvolvido um modelo antropomórfico de manequim facial em coloboração com uma empresa de simuladores de treinamento médico. Um grupo constituído por sete neurologistas e um oftalmologista com experiência em aplicação de TxB avaliou o modelo utilizando um instrumento adaptado de revisão de objeto de aprendizagem (LORI). O instrumento analisou aspectos como: qualidade do conteúdo, alinhamento dos objetivos de aprendizagem, feedback e adaptação, motivação, concepção da apresentação e acessibilidade. Resultados O modelo de manequim facial obteve pontuações altas na avaliação do LORI com os maiores escores em alinhamento com os objetivos de aprendizagem e motivação. O modelo também obteve boas pontuações em termos de acessibilidade, qualidade do conteúdo e concepção da apresentação. No entanto, o item feedback e adaptação recebeu uma pontuação média mais baixa, devido à natureza estática. Conclusão O modelo manequim facial mostra-se promissor como uma EH e blefaroespasmo. O modelo reduz a dependência de pacientes reais para treinamento portátil, de baixo custo e de fácil fabricação para uso em diversos cenários de treinamento, proporcionando uma experiência de aprendizagem mais ampla e segura para residentes de neurologia. Além disso, fornece uma experiência de aprendizagem realista e oferece portabilidade, economia e facilidade de fabricação para uso em vários cenários de treinamento médico. É uma ferramenta eficaz e acessível para o ensino da aplicação de TxB.

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Background Blepharospasm is a focal dystonia that affects the orbicularis oculi muscles. The interest in nonmotor symptoms is due to their impact on quality of life. Objective We evaluated the frequency of sleep disorders and circadian rhythm in a sample of Brazilian blepharospasm patients. Methods A total of 51 patients, who met the clinical criteria for blepharospasm, evaluated by 2 specialists in movement disorders, were recruited from the outpatient clinic for movement disorders of two reference centers in the city of São Paulo: Universidade Federal de São Paulo and Hospital do Servidor Público do Estado de São Paulo. The selected 13 patients were evaluated from 13 days before to 13 days after using botulinum toxin. They were interviewed, underwent physical examination and actigraphy, and completed sleep diaries. Results After using botulinum toxin, the group that reported sleep improvement exhibited a 50% decrease in sleep latency. There was no change in restless leg syndrome or circadian rhythm. Patients who reported no sleep improvement after using botulinum toxin presented poorer synchronization of the light-dark cycle. Conclusion Blepharospasm patients have poor sleep quality. About 50% of the patients had sleep improvement after using botulinum toxin. The synchronization of the light-dark cycle should be influenced by this finding.

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BACKGROUND AND PURPOSE: It is challenging to assess essential blepharospasm (EB) patients objectively because they exhibit chaotic patterns of abnormal eyelid movements. Previously employed objective approaches used systems with low levels of accuracy systems or were too complex to be applied in routine clinical practice. We aimed to develop a practical tool using a smartphone camera and custom-made software to objectively assess the therapeutic effects of botulinum toxin in blepharospasm patients. METHODS: Thirty-four patients with EB were evaluated before and 15 days after receiving onabotulinumtoxinA injections. The control group was composed of 19 age-matched healthy individuals. A smartphone (iPhone 6 S; Apple) was used to record spontaneous eyelid movements for 3 min, after which eyelid movement frequency was analysed using custom-made software. RESULTS: Before treatment, eyelid movement frequency was significantly higher in the EB group (21.55 ± 13.30 movements/min) compared to the control group (8.26 ± 8.89 eyelid movements/min; p < 0.001). The frequency of spontaneous eyelid movements was significantly reduced after treatment in the EB patients (8.46 ± 6.32 eyelid movements/min; p < 0.001). After treatment, no statistically significant difference in eyelid movement rate was observed between the EB patients and the control group (p = 0.32). CONCLUSIONS: Assessment of the spontaneous eyelid movements obtained with the smartphone camera and analysed with the custom-made software enabled us to objectively measure the therapeutic effects of botulinum toxin in patients with blepharospasm. Further refinement of this system could enable customized and fine adjustments to botulinum toxin doses based on each patient's needs.

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BACKGROUND: Neuroophthalmological phenotypical particularities of SCA3. PHENOMENOLOGY: Eyelid opening apraxia and asymmetrical blepharospasm. EDUCATIONAL VALUE: To illustrate the phenomenology for purposes of education.

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The real-world use of onabotulinumtoxinA and incobotulinumtoxinA for cervical dystonia and blepharospasm treatment was assessed in two separate retrospective studies using identical protocols (TRUDOSE and TRUDOSE II). The studies were conducted in Mexico, Norway, and United Kingdom and designed to evaluate dose utilization of the two botulinum toxins in clinical practice. Eighty-three patients treated with both onabotulinumtoxinA and incobotulinumtoxinA for ≥2 years for each botulinum toxin were included, (52, cervical dystonia; 31, blepharospasm). All patients switched from onabotulinumtoxinA to incobotulinumtoxinA for administrative/financial reasons. A range of dose ratios (incobotulinumtoxinA to onabotulinumtoxinA) was reported; with the majority of dose ratios being >1. The mean dose ratio was >1 regardless of the study site or underlying clinical condition. The inter-injection interval was significantly longer for onabotulinumtoxinA versus incobotulinumtoxinA when assessed for all patients (15.5 vs. 14.3 weeks; p = 0.006), resulting in fewer onabotulinumtoxinA treatments over the study time period. Consistent with product labeling, no single fixed-dose ratio exists between incobotulinumtoxinA and onabotulinumtoxinA. The dosage of each should be individualized based on patient needs and used as per product labeling. These real-world utilization data may have pharmacoeconomic implications.

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The objective is to report ependymoma associated with uveitis in a four-month-old male boxer crossbreed. The dog initially presented in both eyes conjunctival hyperemia, blepharospasm, projection of the nictitating membrane, and photophobia, characteristic of uveitis.Traumatic uveitis was rejected. Six days after onset of ophthalmic symptoms, vomiting, incoordination, and behavior changes occurred. Neurological symptoms and eyebrow contraction suggesting head pain and brain injury were investigated by computed tomography (CT) nine days after, when the dog showed spasms of the limbs and neck followed by respiratory arrest with reversal and stabilization. The scans revealed extensive amorphic neoformation in the diencephalon, midbrain, and within the right lateral ventricle, along with sinistral displacement of the cerebral sickle. The animal was euthanized, and necropsy of the head revealed hydrocephalus and an intracerebral tumor mass consistent with the CT imaging. Histopathological evaluation by hematoxylin and eosin staining revealed tissue alterations in several CNS segments, showing several pseudorosettes in the neuropil, mitosis, and a high degree of cell atypia, indicating ependymoma. Inflammatory, hemorrhagic, and necrotic tissue lesions were observed in the brainstem and cerebellum due to compression by tumor tissue and hydrocephalus. The neoplasia was phenotyped by Immunohistochemistry (IHC), and tested positive for the tumoral markers vimentin and glial fibrillary acid protein, confirming intracranial anaplastic ependymoma. Behavior changes and neurological signs resulted from vascular, inflammatory, and degenerative processes in the neuropil caused by neoplasm compression and invasion of brain tissue. Although dogs with ependymoma often present with neurological disease, in the present case, blepharospasm was the first symptom noticed by the owner, and it persisted until euthanasia. According to the literature, and confirmed in the evolution of the current case, the symptoms are related to tumor location and extent and to secondary lesions due to tumor expansion. Clinical symptomatology and complementary laboratory testing, CT, necropsy, histology, and IHC characterized ependymoma, a rare condition in young dogs.

Objetiva-se relatar um caso de ependimoma anaplásico associado a uveíte em cão macho de quatro meses de idade, mestiço Boxer. O cão apresentou, inicialmente, hiperemia conjuntival, blefaroespasmo, projeção da membrana nictitante e fotofobia bilaterais, sinais característicos de uveíte. Uveíte por causa traumática foi descartada. Seis dias após o início dos sintomas oftálmicos ocorreram vômito, incoordenação motora e alterações de comportamento. Sinais neurológicos e contração das sobrancelhas sugeriram algia na região cefálica. Injúria cerebral foi investigada por tomografia computadorizada (TC) nove dias após o início dos sintomas, quando o cão demonstrou espasmos dos membros e pescoço, seguido por parada respiratória com reversão e estabilização. A TC revelou extensa e amórfica neoformação no diencéfalo, mesencéfalo, e dentro do ventrículo lateral direito, com deslocamento à esquerda da foice cerebral. O animal foi eutanasiado e a necropsia revelou hidrocefalia e uma massa tumoral intracerebral condizente com a imagem da TC. A avaliação histopatológica por coloração hematoxilina e eosina, revelou alterações teciduais em várias áreas do Sistema Nervoso Central (SNC), mostrando várias pseudorosetas no neurópilo, mitose, e um elevado grau de atipia celular, indicando ependimoma.Lesões teciduais inflamatórias, hemorrágicas e necróticas foram observadas no tronco encefálico e cerebelo, devido à compressão do tumor e à hidrocefalia. Amostras da neoplasia foram submetidas à análise imuno-histoquímica (IHQ), sendo positiva a expressão dos marcadores tumorais vimentina e proteína glial fibrilar ácida, confirmando ependimoma anaplásico intracranial. As mudanças comportamentais e sinais neurológicos resultaram do processo vascular, inflamatório e degenerativo no neurópilo, causados pela compressão e invasão do tecido cerebral pela neoplasia. Embora cães com ependimoma frequentemente apresentem manifestações neurológicas, no presente caso, blefaroespasmo foi o primeiro sinal clínico observado pelo proprietário, e persistiu até a eutanásia do paciente. Os sinais neurológicos estão relacionados à localização do tumor e extensão das lesões secundárias devidas à sua expansão. Sintomatologia clínica e testes laboratoriais complementares, TC, necropsia, histologia e IHQ caracterizaram ependimoma, que é raro em animais jovens.

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The objective is to report ependymoma associated with uveitis in a four-month-old male boxer crossbreed. The dog initially presented in both eyes conjunctival hyperemia, blepharospasm, projection of the nictitating membrane, and photophobia, characteristic of uveitis.Traumatic uveitis was rejected. Six days after onset of ophthalmic symptoms, vomiting, incoordination, and behavior changes occurred. Neurological symptoms and eyebrow contraction suggesting head pain and brain injury were investigated by computed tomography (CT) nine days after, when the dog showed spasms of the limbs and neck followed by respiratory arrest with reversal and stabilization. The scans revealed extensive amorphic neoformation in the diencephalon, midbrain, and within the right lateral ventricle, along with sinistral displacement of the cerebral sickle. The animal was euthanized, and necropsy of the head revealed hydrocephalus and an intracerebral tumor mass consistent with the CT imaging. Histopathological evaluation by hematoxylin and eosin staining revealed tissue alterations in several CNS segments, showing several pseudorosettes in the neuropil, mitosis, and a high degree of cell atypia, indicating ependymoma. Inflammatory, hemorrhagic, and necrotic tissue lesions were observed in the brainstem and cerebellum due to compression by tumor tissue and hydrocephalus. The neoplasia was phenotyped by Immunohistochemistry (IHC), and tested positive for the tumoral markers vimentin and glial fibrillary acid protein, confirming intracranial anaplastic ependymoma. Behavior changes and neurological signs resulted from vascular, inflammatory, and degenerative processes in the neuropil caused by neoplasm compression and invasion of brain tissue. Although dogs with ependymoma often present with neurological disease, in the present case, blepharospasm was the first symptom noticed by the owner, and it persisted until euthanasia. According to the literature, and confirmed in the evolution of the current case, the symptoms are related to tumor location and extent and to secondary lesions due to tumor expansion. Clinical symptomatology and complementary laboratory testing, CT, necropsy, histology, and IHC characterized ependymoma, a rare condition in young dogs.(AU)

Objetiva-se relatar um caso de ependimoma anaplásico associado a uveíte em cão macho de quatro meses de idade, mestiço Boxer. O cão apresentou, inicialmente, hiperemia conjuntival, blefaroespasmo, projeção da membrana nictitante e fotofobia bilaterais, sinais característicos de uveíte. Uveíte por causa traumática foi descartada. Seis dias após o início dos sintomas oftálmicos ocorreram vômito, incoordenação motora e alterações de comportamento. Sinais neurológicos e contração das sobrancelhas sugeriram algia na região cefálica. Injúria cerebral foi investigada por tomografia computadorizada (TC) nove dias após o início dos sintomas, quando o cão demonstrou espasmos dos membros e pescoço, seguido por parada respiratória com reversão e estabilização. A TC revelou extensa e amórfica neoformação no diencéfalo, mesencéfalo, e dentro do ventrículo lateral direito, com deslocamento à esquerda da foice cerebral. O animal foi eutanasiado e a necropsia revelou hidrocefalia e uma massa tumoral intracerebral condizente com a imagem da TC. A avaliação histopatológica por coloração hematoxilina e eosina, revelou alterações teciduais em várias áreas do Sistema Nervoso Central (SNC), mostrando várias pseudorosetas no neurópilo, mitose, e um elevado grau de atipia celular, indicando ependimoma.Lesões teciduais inflamatórias, hemorrágicas e necróticas foram observadas no tronco encefálico e cerebelo, devido à compressão do tumor e à hidrocefalia. Amostras da neoplasia foram submetidas à análise imuno-histoquímica (IHQ), sendo positiva a expressão dos marcadores tumorais vimentina e proteína glial fibrilar ácida, confirmando ependimoma anaplásico intracranial. As mudanças comportamentais e sinais neurológicos resultaram do processo vascular, inflamatório e degenerativo no neurópilo, causados pela compressão e invasão do tecido cerebral pela neoplasia. Embora cães com ependimoma frequentemente apresentem manifestações neurológicas, no presente caso, blefaroespasmo foi o primeiro sinal clínico observado pelo proprietário, e persistiu até a eutanásia do paciente. Os sinais neurológicos estão relacionados à localização do tumor e extensão das lesões secundárias devidas à sua expansão. Sintomatologia clínica e testes laboratoriais complementares, TC, necropsia, histologia e IHQ caracterizaram ependimoma, que é raro em animais jovens.(AU)

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