Profile of patients with essential blepharospasm and hemifacial spasm in the two largest ophthalmology reference centers in Brazil / Perfil dos pacientes com blefaroespasmo essencial e espasmo hemifacial nos dois maiores centros de referência em oftalmologia no Brasil

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.

Facial phantom model: a low-cost and safe tool for teaching botulinum toxin application in neurology residencies / Modelo de manequim facial: uma ferramenta segura e de baixo custo para o ensino da aplicação de toxina botulínica nas residências em neurologia

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.

Obturator Nerve Block by Inguinal Approach in the Transurethral Resection of Lateral wall Bladder Tumor

Background: Single spinal anesthetic has been shown to be ineffective in preventing obturator nerve activation and adductor muscle contraction, which can lead to problems such as bladder perforation during transurethral resection of lateral wall bladder tumor (TURBT) under SA. To counteract this, numerous additional approaches are still being investigated, with the inguinal approach lately gaining traction. The aim of the study was to observe the incidence of jerk/ muscle spasm after obturator nerve block by Inguinal Approach in TURBT of lateral wall urinary bladder tumor under SA. Material & Methods: This retrospective observational study was conducted at the Department of Anesthesiology & ICU of National Institute of Kidney Diseases & Urology, Dhaka, Bangladesh. The study duration was 6 months, from January 2022 to July 2022. During this period, a total of 20 cases of transurethral resection of lateral wall bladder tumor (TURBT) had been included as the study population, following inclusion and exclusion criteria. Results: Among the participants, 45% had been from the age group of 60-69 years, 30% had been from the age group of 50-59 years, 15% had been between the ages of 70-79, and 10% had been of 80 years or older. Hypertension was the most common comorbidity, observed in 70% of the participants. 45% had diabetes, 15% had chronic kidney disease, another 15% had chronic obstructive pulmonary disease, 10% had heart disease, and 15% had benign enlargement of prostate. During TURBT, majority of the patients had no jerk, while only 10% had minimal jerk and 1 patient had maximum jerk. During the 24-hour follow-up, 20% of patients regarded their outcome condition as excellent, while 60% had regraded their outcome as good. Only 1 patient regarded their outcome as poor, while follow-up data was unavailable for 15% of patients. Conclusion: The study observed very few incidence of muscle spasm or jerk during TURBT after using the inguinal approach. The study also found positive short-term outcome in most of the patients.

Optimal evidence analysis for the nursing management of limb spasm in patients with spinal cord injury / 中华创伤杂志

Objective:To explore the optimal evidence for the nursing management of limb spasm in patients with spinal cord injury.Methods:Based on the "6S" evidence model, the databases including CNKI, Wanfang, PubMed and Cochrane Library, the guideline websites such as the National Guideline Clearinghouse, Guidelines International Network and Registered Nurses′ Association of Ontario, and the websites of professional associations such as the Royal College of Physicians, American Spinal Injury Association and Canadian Spine Association were systematically searched. Search period of each database was set from the year of inception until July 2022. Two investigators independently screened the literatures related to the management of limb spasm in patients with spinal cord injury, and conducted quality evaluation and evidence recommendation level evaluation.Results:Totally 17 literatures consisting of 6 guidelines, 3 expert consensuses, 5 systematic reviews, 2 evidence summaries, and 1 clinical decision were included. Moreover, 30 pieces of evidence were summarized from 3 aspects, including evaluation and identification, drug therapy (chemical denervation, and oral medication), rehabilitation training (hydrotherapy, electrical stimulation, magnetic stimulation, vibration therapy, heat and cold therapy, body position, and exercise therapy).Conclusion:Nursing staff can set up a multidisciplinary team according to the clinical environment and take into consideration of the characteristics of spinal cord injury patients to provide personalized interventions involving evaluation and identification, drug therapy, rehabilitation training, etc., so as to alleviate the degree of limb spasm.

Clinical comparison of modified postauricular transverse incision and traditional vertical incision for microvascular decompression in the treatment of hemifacial spasm / 中国医师进修杂志

Objective:To compare the effect of modified postauricular transverse incision and traditional vertical incision for microvascular decompression in the treatment of hemifacial spasm.Methods:Prospective study method was used. A total of 116 patients with hemifacial spasm in Handan Central Hospital from January 1, 2019 to January 1, 2020 were selected, and divided into two groups according to the admission order. Both groups underwent microvascular decompression; control group (57 cases) received traditional vertical incision, while treatment group (59 cases) received modified postauricular transverse incision. The brainstem auditory evoked potential (BAEP), pain degree, surgical indicators, facial aesthetic satisfaction and complications were compared between two groups.Results:After treatment, the BAEP of latency, wave interval and wave amplitude in the two groups increased compared with that before treatment, and the BAEP of latency, wave interval and wave amplitude in the treatment group were higher than those in the control group: (1.89 ± 0.15) ms vs. (1.62 ± 0.21) ms, (7.89 ± 0.15) ms vs. (6.25 ± 0.41) ms, (1.79 ± 0.19) ms vs. (1.54 ± 0.11) ms ( P<0.05). After treatment, the visual analogue score (VAS) of patients in the two groups decreased compared with that before treatment, and the VAS of patients in the treatment group was lower than that in the control group: (1.15 ± 0.27) points vs. (2.18 ± 0.24) points ( P<0.05). The operation time, intraoperative bleeding volume and postoperative scar length of patients in the treatment group were less than those in the control group: (60.41 ± 3.81) h vs. (76.87 ± 3.87) h, (30.18 ± 4.19) ml vs. (56.87 ± 4.15) ml and (4.18 ± 1.07) cm vs. (6.87 ± 1.05) cm ( P<0.05). The satisfaction rate of patients in the treatment group was higher than that in the control group: 91.53% (54/59) vs. 71.93% (41/57) ( P<0.05). The complication rate of patients in the treatment group was lower than that in the control group: 5.08% (3/59) vs. 21.05% (12/57) ( P<0.05). Conclusions:Compared with traditional vertical incision, the modified transverse incision for microvascular decompression in the treatment of hemifacial spasm can reduce intraoperative blood loss and postoperative scar area, enhance brainstem auditory evoked potential, and improve facial aesthetics, which is worthy of recommendation.

Newest etiology of infantile spasms syndrome / 中华实用儿科临床杂志

Infantile spasms syndrome (ISs) is a kind of catastrophic epileptic encephalopathy.Epileptic spasms originating in infancy or early childhood, typically accompanied by an electroencephalographic pattern of hypsarrhythmia, and developmental regression are common clinical manifestations.ISs prognosis is primarily determined by its etiology.In recent years, the rapid development of neuroimaging and genetic detection technology has greatly enriched the etiological spectrum of ISs, especially the genetic-related etiology.Likewise, the etiological categorization of ISs has gotten increasingly specific in response to clinical demands.Despite these advances, the etiology of ISs remains complicated and variable, with around one-third of children having unidentified causes.Consequently, more detection methods and studies are still needed to identify other potential etiologies.The etiologic categorization of ISs will be evaluated in this article.

Efeito da nitroglicerina no espasmo e na oclusão da artéria radial em cateterismos transradiais realizados em mulheres / Effect of nitroglycerin on radial artery spasm and occlusion in transradial catheterizations performed in women

Introdução: O benefício do cateterismo transradial já foi confirmado em pacientes do sexo feminino. Mulheres submetidas a exames por cateterismo transradial apresentam desafios únicos. A ocorrência de espasmo e oclusão da artéria radial após o procedimento é maior em mulheres. Objetivamos avaliar o benefício da nitroglicerina na redução de espasmo e oclusão da artéria radial em mulheres submetidas a cateterismo transradial. Métodos: Estudo multicêntrico, prospectivo, randomizado 2x2 fatorial, duplo-cego. Participantes foram randomizados para nitroglicerina 500mcg ou placebo em dois momentos: após colocação do introdutor hemostático e antes da retirada. A avaliação de espasmo da artéria radial foi clínica, por meio de escala dor. A avaliação da oclusão da artéria radial foi realizada com Doppler, nas primeiras 12 horas. Resultados: Foram incluídos 2.040 pacientes, sendo 774 (37,5%) mulheres. A média de idade foi similar entre os sexos (62,2 anos versus 61,5 anos; p=0,27). A incidência de espasmo da artéria radial foi maior nas mulheres (21,2% versus 6,6%; p<0,01), bem como a incidência de oclusão da artéria radial (3,4% versus 1,8%; p=0,03). O uso da nitroglicerina no início do procedimento não reduziu a incidência de espasmo da artéria radial em mulheres quando comparado com o placebo (19,7% versus 22,6%; p=0,34), tampouco as taxas de oclusão da artéria radial (4,3% versus 2,5%; p=0,17). O uso da nitroglicerina ao fim do procedimento não reduziu a incidência de oclusão da artéria em mulheres (2,8% versus 3,9%; p=0,37). Conclusões: O espasmo e a oclusão da artéria radial são mais frequentes em mulheres submetidas a cateterismo transradial quando comparadas aos homens. O uso da nitroglicerina não apresenta efeito benéfico na redução dessas incidências.

Background: The benefit of transradial catheterization is well established in female patients. Women undergoing transradial catheterization exams present with unique challenges. The occurrence of radial artery spasm and occlusion after the procedure is higher in women. The objective of this study was to evaluate the benefit of nitroglycerin in reducing radial artery spasm and occlusion in women undergoing transradial catheterization. Methods: This was a 2x2 factorial randomized, multicenter, prospective, double-blinded study. Participants were randomized to nitroglycerin 500mcg or placebo at two time points: after placement of the hemostatic introducer and before its removal. The evaluation of the radial artery spasm was clinical, using a pain scale The evaluation of the radial artery occlusion was performed with Doppler, in the first 12 hours. Results: A total of 2,040 patients were included, of which 774 (37.5%) were female. Mean age was similar between sexes (62.2 years versus 61.5 years; p=0.27). The incidence of radial artery spasm was higher in women (21.2% versus 6.6%; p<0.01), as well as the incidence of radial artery occlusion (3.4% versus 1.8%; p=0.03). The use of nitroglycerin at the beginning of the procedure did not reduce the incidence of radial artery spasm in women when compared with placebo (19.7% versus 22.6%; p=0.34), nor did the rates of radial artery occlusion (4.3% versus 2.5%; p=0.17). The use of nitroglycerin at the end of the procedure did not reduce the incidence of artery occlusion in women (2.8% versus 3.9%; p=0.37). Conclusions: Radial artery spasm and occlusion are more frequent in women undergoing transradial catheterization when compared to men. The use of nitroglycerin does not have a beneficial effect in reducing these incidences.

Fenótipos MINOCA - Um Desafio para o Manejo Específico do Paciente / MINOCA Phenotypes - A Challenge for Patient-Specific Management

Resumo O infarto do miocárdio com artérias coronárias não obstrutivas (MINOCA) é um fenômeno clínico intrigante e de prognóstico incerto, caracterizado pela evidência de infarto do miocárdio (IM) com artérias coronárias normais ou quase normais na angiografia1. Atualmente, não há diretrizes para o manejo e muitos pacientes recebem alta sem uma etiologia determinada, significando muitas vezes que o tratamento ideal é adiado.Relatamos três estudos de caso MINOCA com as principais causas fisiopatológicas cardíacas, particularmente epicárdicas, microvasculares e não isquêmicas, levando ao tratamento diferencial. Os pacientes apresentavam dor torácica aguda, aumento da troponina e nenhuma doença coronariana angiograficamente significativa.Neste estudo, analisamos a etiologia, diagnóstico clínico e tratamento da MINOCA em relação à literatura relevante.MINOCA é considerado um diagnóstico de trabalho dinâmico, incluindo distúrbios coronários, miocárdicos e não coronários. Estudos prospectivos e registros são necessários para melhorar o atendimento e o resultado do paciente.

Abstract Myocardial infarction with non-obstructive coronary arteries (MINOCA) is a puzzling clinical phenomenon with an unclear prognosis, characterized by evidence of myocardial infarction (MI) with normal or near-normal coronary arteries on angiography1. Currently, there are no guidelines for management, and many patients are discharged without a determined etiology, often meaning that optimal treatment gets postponed.We report three MINOCA case studies with main pathophysiological cardiac causes, particularly epicardial, microvascular, and non-ischemic, prompting differential management. The patients presented with acute chest pain, troponin raise, and no angiographically significant coronary disease.In this study, we analyzed the etiology, clinical diagnosis, and treatment of MINOCA concerning the relevant literature.MINOCA is considered to be a dynamic working diagnosis, including coronary, myocardial, and non-coronary disorders. Prospective studies and registries are needed to improve patient care and outcome.

Application of preoperative and intraoperative electroneurophysiological examination for persons with hemifacial spasm / 中华物理医学与康复杂志

Objective:To analyze the diagnostic value of preoperative electromyography and spasticity assessment for patients with hemifacial spasm, and to define a relationship between intraoperative electrophysiological examination and prognosis in order to provide help for clinical diagnosis and treatment.Methods:Thirty-one patients with hemifacial spasm were selected for the clinical spasticity scoring and divided into a general spasm group ( n=27) and a severe spasm group ( n=4). All received preoperative neurophysiological examination to record their twitch discharge, facial nerve conduction velocity (MCV), lateral spread (LSR) of the spasm, brainstem auditory evoked potential (BAEP), and blink reflex. Electrophysiological monitoring then recorded intraoperative LSR. According to whether the LSR disappeared or not, the patients were divided into the LSR disappearance group (of 15) and the LSR residual group (of 16), and facial muscle activity was recorded again one, three and six months after the operation. Results:Preoperative EMG examination of both groups showed positive LSR and that facial nerve MCV was within the normal range. There were, though, significant differences between the two groups in the twitching discharge by needle electromyography, blink reflex and preoperative BAEP. One week after the operation, one member of the residual group and 3 from the disappearance patients of the former and latter group had recovered in terms of LSR, with 3 and 7 cases significantly relieved, respectively. Two months later, the corresponding figures were 5 and 7, 3 and 6, respectively. Half of a year after the surgery, 5 from the residual group and 12 from the disappearance group had fully recovered in terms of LSR, while 9 and 2 cases were significantly relieved. Altogether, there were significant differences within the two groups in terms of recovery among all the time points, with significantly better recovery in the LSR disappearance group than the LSR residual group at 1 week after operation, while there were no significant differences between the two groups in recovery 3 and 6 months after their operation.Conclusions:Preoperative electromyography can provide objective assessments of the scope, severity, and facial nerve excitability of patients with hemifacial spasm. Real-time intraoperative electrophysiology monitoring can help surgeons to objectively assess the effect of decompression and to find and avoid nerve traction injury in surrounding areas quickly.

Ventricular tachycardia and acute myocardial infarction induced by coronary artery spasm in patient without coronary artery disease

Coronary artery spasm, marked by coronary vasoconstriction, is one of the etiologies of myocardial ischemia, often presenting as vasospastic angina. Vasospastic angina is diagnosed when angina which predominantly occurs at rest, is accompanied by ST-segment changes in ECG, or in the setting of borderline ECG changes, a positive provocation test through coronary angiography is required. Although coronary artery spasms could manifest in wide clinical settings, the occurrence of ventricular arrhythmias and acute myocardial infarction solely caused by spasms without evidence of prior coronary artery disease is rare. This case report is about a 46-year-old man who presented with ventricular tachycardia and acute myocardial infarction that later was found to be secondary to coronary vasospasm observed directly through coronary angiography. We aim to emphasize the importance of coronary artery spasms as the etiology of malignant ventricular arrhythmias and acute myocardial infarction manifestation. Optimization in treatment and prevention shall reduce future life-threatening complications of coronary artery spasms.

Impact of drug-eluting stent-associated coronary artery spasm on 3-year clinical outcomes: A propensity score matching analysis

Background: It has been reported that significant endothelial dysfunction or clinically evident vasospasm can be associated with drug-eluting stents (DESs). However, the impact of DES associated coronary artery spasm (CAS) on long-term clinical outcomes has not been fully elucidated as compared with those of patients with vasospastic angina. Methods: A total of 2797 consecutive patients without significant coronary artery lesion (<70%), who underwent the Acetylcholine (Ach) provocation test, were enrolled between Nov 2004 and Oct 2010. DES-associated spasm was defined as significant CAS in proximal or distal to previously implanted DES site at follow-up angiography with Ach test. Patients were divided into two groups (DES-CAS; n ¼ 108, CAS; n ¼ 1878). For adjustment, propensity score matching (PSM) was done (C-statistics ¼ 0.766, DESCAS; n ¼ 102, CAS; n ¼ 102). SPSS 20 (Inc., Chicago, Illinois) was used to analyze this data. Results: Baseline characteristics were worse in the DES-CAS group. After PSM, both baseline characteristics and the Ach test results were balanced except higher incidence of diffuse CAS and ECG change in the DES-CAS group. During Ach test, the incidence of diffuse spasm (93.1% vs. 81.3%, p ¼ 0.012) and ST-T change (10.7% vs. 1.9%, p ¼ 0.010) were higher in the DES-CAS group. At 3-year, before and after adjustment, the DES-CAS group showed a higher incidence of coronary revascularization (9.8% vs. 0.0%, p ¼ 0.001), recurrent chest pain requiring follow up coronary angiography (CAG, 24.5% vs. 7.8%, p ¼ 0.001) and major adverse cardiac events (MACEs, 9.8% vs. 0.9%, p < 0.005). Conclusion: In this study, DES associated CAS was associated with higher incidence of diffuse spasm, ST-T change and adverse 3-year clinical outcomes. Special caution should be exercised in this particular subset of patients.

Clinical characteristics and treatment of patients with refractory spasm tetanus / 中华急诊医学杂志

Objective:To investigate the clinical characteristics and treatment of patients with refractory spasm tetanus.Methods:Tetanus patients admitted to the Affiliated Hospital of Zunyi Medical University from January 2011 to April 2021 were collected and divided into the refractory spasm group and general group according to whether they were refractory spasm. The general demographic characteristics, clinical characteristics, treatment and prognosis of the two groups were compared. The treatment and risk predictors of patients with refractory spasm tetanus were explored.Results:Among the 59 tetanus patients, 35 patients (59.32%) were in the refractory spasm group and 24 patients (40.68%) were in the general group. There were no significant differences in sex, age, latency and trauma site between the two groups ( P>0.05). All patients with refractory spasmodic tetanus were treated with mechanical ventilation, the length of hospital stay was significantly prolonged, and the rate of pulmonary infection was significantly increased ( P<0.05). The incidence of multiple sites muscular rigidity (spasm/limb stiffness, neck stiffness, and angular pedicle tension) in patients with refractory spasmodic on the first day of admission was higher than that in the general group ( P<0.05). The patients' initial symptoms (within 24 h after admission) were muscle spasm/limb stiffness + neck stiffness + angular pedicle inversion, which had the highest specificity for predicting the occurrence of refractory spasm. The proportion of Ablett grade Ⅳ in patients with refractory spasm was higher than that in the general group, and the difference was statistically significant ( P<0.05). The 48.75% patients with refractory spasm tetanus were treated with more than 3 sedatives combined with muscle relaxants, and the duration of sedative use was significantly prolonged ( P<0.05). Conclusions:The mechanical ventilation time and hospitalization time in tetanus patients with refractory spasm are significantly prolonged, and the incidence of pulmonary infection is significantly increased, which requires the combined application of a large number of sedative and muscle relaxants for a long time, and the incidence of refractory spasm is higher in patients with multi-site muscular rigidity at the early stage of the disease.

NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review / 中南大学学报(医学版)

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.

Advances in diagnosis and treatment of primary hemifacial spasm / 中华全科医师杂志

Primary hemifacial spasm is a motor disorder of facial muscles related to facial nerve. During the attack, the facial muscles present irregular and involuntary clonus, which can be induced or aggravated by emotional excitement, mental tension and random facial movement, seriously affecting daily work and life. The pathogenesis, diagnosis, differential diagnosis and treatment of the primary hemifacial spasm have been studied extensively in recent years. This article reviews the progress in these aspects.

Treatment of finger spasm after stroke with wheat grain moxibustion at Shixuan (EX-UE 11) combined with rehabilitation training: a randomized controlled trial / 中国针灸

OBJECTIVE@#To compare the clinical effect of wheat grain moxibustion combined with rehabilitation training and simple rehabilitation training on finger spasm after stroke.@*METHODS@#A total of 80 patients with finger spasm after stroke were randomly divided into an observation group and a control group, 40 cases in each group. The control group was given routine rehabilitation training, once a day, 30 min each time. The observation group was given wheat grain moxibustion at Shixuan (EX-UE 11) on the basis of the control group, 8~10 moxibustion cones at each point, once a day. Both groups were treated for 6 days as one course of treatment for 4 courses. The motor function of the affected hand (Fugl-Meyer assessment [FMA] score) and muscle tension (modified Ashworth scale [MAS] grading), surface EMG indexes (wrist dorsiflexor muscle and flexor carpal metacarpal muscle mean square [RMS] value), hand muscle strength (neurological deficit score [NDS]) and daily living ability (modified Barthel index [MBI] score) were compared between the two groups before and after treatment, and clinical efficacy was evaluated.@*RESULTS@#After treatment, FMA and MBI scores in the 2 groups were increased compared with before treatment (P<0.05), and those in the observation group were higher than the control group (P<0.05). The RMS value of wrist dorsiflexor muscle and flexor carpal metacarpal muscle in relaxation and passive function testsand and NDS in the 2 groups were lower than those before treatment (P<0.05), and those in the observation group were lower than the control group (P<0.05). MAS grading in the 2 groups was improved compared with before treatment (P<0.05), and that in the observation group was better than the control group (P<0.05). The total effective rate of the observation group was 92.5% (37/40), which was higher than that of the control group (80.0%, 32/40, P<0.05).@*CONCLUSION@#Wheat grain moxibustion at Shixuan (EX-UE 11) combined with rehabilitation training can improve the hand motor function and daily living ability of patients with finger spasm after stroke, improve the degree of spasm and the function of wrist dorsiflexor muscle and flexor carpal metacarpal muscle, the clinical effect is better than simple rehabilitation training.

Clinical observation on cluster acupuncture at scalp points combined with exercise therapy in treatment of limb spasm after stroke / 中国针灸

OBJECTIVE@#To observe the clinical effect of cluster acupuncture at scalp points in treating limb spasm after stroke on the basis of conventional exercise therapy.@*METHODS@#A total of 72 patients with limb spasm after stroke were randomly divided into an observation group (36 cases, 5 cases dropped off) and a control group (36 cases, 6 cases dropped off). The control group was treated with exercise therapy. In the observation group, on the basis of the control group, penetrating technique of acupuncture was exerted at Qianding (GV 21) to Baihui (GV 20), Xinhui (GV 22) to Qianding (GV 21), etc. once a day, 5 days a week for 4 weeks. Before and after treatment, the changes of the modified Ashworth scale (MAS), simplified Fugl-Meyer motor assessment (FMA), and modified Barthel index (MBI) scores of the two groups were compared.@*RESULTS@#After treatment, the MAS scores of upper and lower limbs in the two groups were lower than before treatment (P<0.05), and those in the observation group were lower than the control group (P<0.05). After treatment, the scores of FMA and BMI in the two groups were higher than before treatment (P<0.05), and the score of MBI in the observation group was higher than the control group (P<0.05).@*CONCLUSION@#On the basis of conventional exercise therapy, cluster acupuncture at scalp points can reduce the spasm, improve motor function and activities of daily living in patients with limb spasm after stroke.

Successful Mitral Valve Repair for Papillary Muscle Rupture Caused by Coronary Spasm Induced by Myocardial Infarction / 日本心臓血管外科学会雑誌

Papillary muscle rupture, a complication of acute myocardial infarction, causes acute mitral valve regurgitation. However, to date, only a few articles have reported PMR associated with coronary spasm. In this article, we report the case of a 64-year-old woman who suffered posteromedial papillary muscle rupture caused by coronary spasm or Myocardial Infarction with Non-Obstructive Coronary Arteries (MINOCA), and was successfully treated with mitral valve repair.

Phenotype and genotype characteristics of infantile spasm related to UBA5 gene mutation / 中华实用儿科临床杂志

Objective:To analyze the clinical phenotype and genotype characteristics of infantile spasm (IS) associated with UBA5 gene mutation. Methods:Four cases of IS caused by UBA5 gene variation diagnosed at the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were retrospectively analyzed.The clinical manifestations, electroencephalogram (EEG), brain magnetic resonance imaging (MRI), treatment, and follow-up results were summarized. Results:In this study, 4 cases (3 males and 1 female) were clinically diagnosed with IS and carried complex heterozygous variation of UBA5 gene.Genetic analysis confirmed that a total of 6 different mutation sites were found, five of which were unreported.All the 4 cases presented with epileptic spasms at the age of 1 d to 8 months after birth, and 2 cases had focal seizures during the course of disease.The EEG of 4 cases showed hypsarrhythmia and cluster or isolated epileptic spasms were detected.Of the 3 patients who had brain MRI results, 2 cases showed nonspecific abnormalities and 1 case was normal.All the 4 patients had developmental delayed before seizure onset, and regressed to varying degrees and made slow progress after onset.One case had microcephaly, and 3 cases had hypertonia.At the last follow-up, the age of the 4 patients ranged from 7 months to 6 years and 4 months.All 4 patients were treated with multiple antiepileptic drugs, but none of them were under control. Conclusions:Children with IS associated with UBA5 gene variation have an early onset age, often accompanied by developmental delayed, microcephaly, dystonia, and refractory seizures.

Influence of acupoint catgut embedding combined with exercise therapy on the rehabilitation effect of patients with upper limb spasticity after stroke and qi deficiency and blood stasis type / 国际中医中药杂志

Objective:To explore the influence of acupoint catgut embedding combined with exercise therapy on the rehabilitation effect of patients with upper limb spasticity after stroke and qi deficiency and blood stasis type.Methods:A total of 76 patients with qi deficiency and blood stasis type of upper limb spasticity after stroke who met the inclusion criteria in the hospital were enrolled between May 2018 and May 2020, and they were divided into two groups according to the random number table method, with 38 in each group. The control group was given conventional rehabilitation treatment, while the observation group was combined with acupoint catgut embedding and exercise therapy intervention on the basis of the control group. The degree of elbow spasm was assessed by Modified Ashworth Scale and hemiplegic hand function was evaluated by Hemiplegic Hand Function Classification Scale. Simplified Fugl-Meyer Scale was used to evaluate the limb motor ability and Modified Barthel Index was used for ability of daily living, and the adverse events during treatment were recorded.Results:After treatment, the improvement degree of elbow spasm in observation group was significantly better than that in control group ( Z=2.29, P=0.022), and the hemiplegic hand function classification was significantly better than that in control group ( Z=2.08, P=0.038). After treatment, the scores of upper and lower extremities and total score of Fugl-Meyer Scale in observation group were significantly higher than those in control group ( t=7.17, 7.40, 11.39, all Ps<0.001). While the scores of hemiplegia, faintness, shortness of breath and sallow complexion in observation group were significantly lower than those in control group ( t=7.82, 12.87, 12.55, 7.95, all Ps<0.001). The Barthel index in observation group was significantly higher than that in control group at 6 and 12 months of follow-up ( t=4.82. 6.45, all Ps<0.001). Conclusion:Acupoint catgut embedding combined with exercise therapy for intervention can improve the hemiplegic hand function, and enhance the limb motor function and daily living ability of patients with qi deficiency and blood stasis type of upper limb spasticity after stroke.