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Objective To explore the application low of stimulation parameters of transcutaneous electrical acupoint stimulation(TEAS)and transcranial direct current stimulation(tDCS)for post-stroke movement disorders based on data mining.Methods The relevant clinical research literature was retrieved from CNKI,Wanfang Data,VIP,CBM,PubMed and Web of Science from January 2000 to May 2023.A database was set up after quality assessment.Frequency analysis,association rules and complex network analysis were used to explore the application law of core acupoints and electrical stimulation parameters.Results A total of 79 articles were included and 128 groups of data were contained.For TEAS,the core acupoints included Waiguan(TE5),Shousanli(LI10),Zusanli(ST36),Hegu(LI4),Neiguan(PC6),Yanglingquan(GB34),etc.,while the most commonly used acupoint combinations of upper limb and lower limb were Shousanli(LI10)-Waiguan(TE5)and Yanglingquan(GB34)-Zusanli(ST36).Among the electrical stimulation parameters of TEAS,the frequencies used vary widely,and 100 Hz was most commonly used,while 2 Hz TEAS was also mainly used for stimulating acupoints located on upper limbs in the treatment of flaccid paralysis.The application of other electrical stimulation parameters was relatively consistent.The bidirectional symmetrical square-wave with 200-250 μs pulse-width was used in majority of studies.The stimulus intensity was mostly determined by patient tolerance.For tDCS,stimulation electrodes were often positioned on the projection of the primary M1,and the safe stimulus intensity was mostly set as 1 to 2 mA.Conclusion In the treatment of post-stroke movement disorders,appropriate acupoints and electrical stimulation parameters of TEAS should be determined on the muscle strength and muscle tension of stroke patients at different stages after stroke,particularly the selection of electric stimulating frequency.
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Objective:To investigate the effect of sleep on physical performance and the correlation between sleep quality and physical performance in the elderly.Methods:In this prospective multicenter case-control study, 472 elderly people aged 60-80 years were recruited from three regions in China, Beijing, Tianjin, and Hainan Province.Basic information of study participants was collected through face-to-face interviews, and physical performance of study participants was assessed by the time up and go(TUG)test on site, with 106 cases(22.5%)in the normal physical performance group and 366 cases(77.5%)in the abnormal group.The Pittsburgh Sleep Quality Index(PSQI)and the Epworth Sleepiness Scale(ESS)were applied to assess sleep quality of study subjects.Correlation analysis was performed to examine factors affecting subjects' physical performance.Results:Age, history of alcohol consumption, BMI, past medical history, the ESS score, daytime sleepiness, and some components of PSQI, such as sleep quality, sleep efficiency, sleep disturbances, use of sleeping drugs and daytime dysfunction, were influencing factors of the TUG score.Two components of PSQI, sleep duration and habitual sleep efficiency, and the ESS score were positively correlated with physical performance.Logistic regression analysis showed that risk factors for decreased physical performance in the elderly included increased age( OR=1.125, 95% CI: 1.083-1.168, P<0.01), history of alcohol consumption( OR=0.482, 95% CI: 0.384-0.605, P<0.001), abnormally high body mass index( OR=1.663, 95% CI: 1.340-2.063, P<0.01), hyperlipemia( OR=0.156, 95% CI: 0.077-0.318, P<0.01), digestive system diseases( OR=0.154, 95% CI: 0.044-0.532, P<0.01), use of sleeping drugs( OR=0.415, 95% CI: 0.202-0.854, P<0.05), daytime sleepiness( OR=4.234, 95% CI: 2.800-6.403, P<0.01), a high habitual sleep efficiency score of PSQI( OR=1.425, 95% CI: 1.214-1.672, P<0.01)and a high sleep disturbances score in PSQI( OR=3.356, 95% CI: 2.337-4.819, P<0.01). Conclusions:The incidence of physical performance decline is high in the elderly.There is a correlation between physical performance and sleep quality.
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Peripherally-induced movement disorders (PIMD) are a group of involuntary movements that emerge after an injury to a body part outside the central nervous system. The phenomenology of PIMD encompasses both hyperkinesia and hypokinesia involving multiple parts of the body. The diagnosis of this disease mainly relies on the temporal and spatial relationship between peripheral injuries and movement disorders. The etiology, pathogenesis and treatment of PIMD have been a matter of debate. This article will review the clinical features, classification, diagnosis, treatment and possible pathogenesis of PIMD, and discuss the limitations and controversies of PIMD-related researches, aiming to advance the understanding of PIMD and avoid clinical misdiagnosis.
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@#Objective To explore the clinical effect of sodium chloride injection of butylphthalide combined with high-frequency repeated transcranial magnetic stimulation(rTMS)in the treatment of limb movement disorders after cerebral infarction.Methods A total of 60 patients with cerebral infarction admitted to the Third People's Hospital of Hubei Province from January to December 2022 were selected,according to the different treatment plans,the patients were divided into basic group and combination group,with 30 cases in each group.The basic group patients were treated with conventional treatment plans,while the combination group patients were treated with butylphthalide sodium chloride injection combined with rTMS.The post-treatment scores of the National Institute of Health stroke scale(NIHSS),activities of daily living(ADL),Fugl-Meyer motor function assessment(FMA),and serum 100β(S100β)were compared between the two groups.Results After treatment,the NIHSS score and serum S100β of patients in the combination group The level is lower than the basic group;The ADL and FMA scores were higher than those of the basic group(P<0.05).Conclusion The combination of sodium butylphthalide chloride injection and rTMS has a significant therapeutic effect on limb movement disorders after cerebral infarction,which can be helpful for the recovery of neurological function in patients and can improve their daily living ability.
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Abstract Background Meige's syndrome is a type of facial dystonia characterized by the simultaneous occurrence of blepharospasm and oromandibular dystonia. Although botulinum toxin type A (OBTA) injections are the standard treatment, evidence of their effectiveness and safety in this scenario is still lacking. Objective Our research aimed to evaluate the improvement and occurrence of side effects following injections of onabotulinum toxin type A (OBTA) in patients with Meige's syndrome. Methods Patients with Meige's syndrome undergoing botulinum toxin injections were enrolled in this study. We assessed dystonia intensity before and 14 days after OBTA injection using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) to measure the response of symptoms in the eyes (blepharospasm) and mouth (oromandibular dystonia). Other variables, such as dosage, side effects, and demographic data, were also recorded. Results The study included 41 participants, with a mean age of 67.7 years and a female-to-male ratio of 3.5:1. The mean BFMDRS score before the injections was 8.89, and after 14 days, it was 2.88. The most reported side effect was ptosis, with a 7.3% incidence. OBTA significantly reduced dystonia severity (p < 0.0001). The clinical response for the blepharospasm component was superior to the oromandibular dystonia component. Conclusion Our results support that OBTA seems to be an effective and safe therapeutic option for treating Meige's syndrome. The effect of OBTA was more pronounced in the treatment of blepharospasm than in oromandibular dystonia.
Resumo Antecedentes A síndrome de Meige (SM) é caracterizada pela ocorrência concomitante de blefarospasmo e distonia oromandibular. Embora a toxina onabotulínica do tipo A (TBA) seja o tratamento de escolha, há uma falta de evidências sobre sua eficácia e segurança nesse cenário. Objetivo O objetivo do nosso estudo foi avaliar os efeitos obtidos com a aplicação de TBA em pacientes com SM. Métodos Pacientes com SM que realizam aplicação de TBA foram convidados a participar desse estudo. Os participantes foram questionados sobre a intensidade da distonia antes e 14 dias após a injeção de TBA, utilizando a Escala de Distonia de Burke-Fahn-Marsden (EDBFM) para mensurar a resposta obtida em cada segmento. Outras variáveis, como dose, ocorrência de efeitos colaterais e dados demográficos, também foram registradas. Resultados O estudo contou com 41 participantes (idade média de 67,7; razão de 3,5 pacientes do sexo feminino para cada participante do sexo masculino). O escore médio na EDBFM antes das aplicações de TBA era 8,89, e, após 14 dias, 2,88. O efeito colateral mais reportado foi ptose (7.3%). A TBA foi capaz de reduzir a severidade da distonia (p < 0.0001), principalmente do blefarospasmo. Conclusão Nossos resultados corroboram que a TBA é uma terapêutica eficaz e segura no tratamento da SM. O efeito da TBA é superior no manejo do blefarospasmo em relação à distonia oromandibular.
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Abstract Spasmodic torticollis was an early designation used for cervical dystonia. The origin of this name is attributed to French physician and writer François Rabelais in the mid-sixteenth century. This early description of torticollis in the book Pantagruel was an inspiration for the understanding of cervical dystonia. The art expressed in Rabelais' literature - which was immortalized by the drawings of Gustave Doré - influenced poetry, art, and photography, and led to the adoption of the term torticollis in the neurological sciences.
Resumo Uma designação inicial usada para distonia cervical era torcicolo espasmódico. A origem desse termo é atribuída ao médico e escritor francês François Rabelais em meados do século XVI. Essa descrição inicial do torcicolo no livro Pantagruel foi uma inspiração para a compreensão da distonia cervical. A arte exibida na literatura de Rabelais - imortalizada pelos desenhos de Gustave Doré - influenciou a poesia, a arte e a fotografia, e levou à adoção do termo torcicolo nas ciências neurológicas.
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Abstract Background Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity of manifestations. Objective To describe the diagnostic features and response to treatment in our cohort of WD patients. Methods This was a retrospective analysis of 262 WD patients stratified by clinical presentation, complementary exams, ATP7B genotyping, and response to treatment. Results Symptoms occurred at an average age of 17.4 (7-49) years, and patients were followed up for an average of 9.6 (0-45) years. Patients presented mainly with hepatic (36.3%), neurologic (34.7%), and neuropsychiatric (8.3%) forms. Other presentations were hematologic, renal, or musculoskeletal, and 16.8% of the patients were asymptomatic. Kayser-Fleischer rings occurred in 78.3% of the patients, hypoceruloplasminemia in 98.3%, and elevated cupruria/24h in 73.0%, with an increase after D-penicillamine in 54.0%. Mutations of the ATP7B gene were detected in 84.4% of alleles. Brain magnetic resonance imaging showed abnormalities in the basal ganglia in 77.7% of patients. D-penicillamine was the first choice in 93.6% of the 245 patients, and 21.1% of these patients were switched due to adverse effects. The second-line therapies were zinc and trientine. The therapeutic response did not differ significantly between the drugs (p= 0.2). Nine patients underwent liver transplantation and 82 died. Conclusion Wilson disease is diagnosed at a late stage, and therapeutic options are limited. In people under 40 years of age with compatible manifestations, WD could be considered earlier in the differential diagnosis. There is a need to include ATP7B genotyping and therapeutic alternatives in clinical practice.
Resumo Antecedentes A doença de Wilson (DW) é um distúrbio autossômico recessivo caracterizado por acúmulo de cobre lesivo aos órgãos. O diagnóstico precoce é dificultado pela raridade e diversidade de apresentações. Objetivo Descrever características ao diagnóstico e resposta ao tratamento em uma coorte de DW. Métodos Análise retrospectiva de 262 casos de DW quanto à apresentação clínica, exames complementares, genotipagem e resposta ao tratamento. Resultados Os sintomas surgiram em uma média aos 17,4 (7-49) anos, e os pacientes foram acompanhados por uma média de 9,6 (0-45) anos. Os pacientes apresentaram principalmente formas hepáticas (36,3%), neurológicas (34,7%) e neuropsiquiátricas (8,3%). Outras apresentações foram hematológicas, renais e musculoesqueléticas. Apenas 16,8% eram assintomáticos. Anéis de Kayser-Fleischer ocorreram em 78,3% dos pacientes, hipoceruloplasminemia em 98,3%, e cuprúria elevada/24h em 73,0%, com aumento após D-penicilamina em 54,0%. Mutações do gene ATP7B foram detectadas em 84,4% dos alelos pesquisados. A ressonância magnética cerebral mostrou alterações em gânglios da base em 77,7% dos pacientes. O tratamento com D-penicilamina foi a escolha inicial em 93,6% dos 245 casos e foi trocado em 21,1% devido a efeitos adversos. Terapias de segunda linha foram zinco e trientina. A resposta terapêutica não diferiu significativamente entre os medicamentos (p= 0,2). Nove pacientes receberam transplante hepático e 82 faleceram. Conclusão O diagnóstico da DW ainda ocorre em estágios tardios, e as opções terapêuticas são limitadas. A DW deve ser considerada precocemente no diagnóstico diferencial de pessoas com menos de 40 anos com manifestações compatíveis. É necessário incorporar na prática clínica a genotipagem do ATP7B e alternativas terapêuticas à penicilamina.
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Abstract Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia. Objective To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases. Methods We conducted a narrative review of the literature, including case reports, case series, review articles and observational studies published in English until December 2022. Results Juvenile or early-onset parkinsonism with variable levodopa-responsiveness have been reported, mainly in SPG7 and SPG11. Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15, and SPG76. Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive SPG such as SPG7 and SPG11 can also present with ataxia. Conclusion Patients with SPG may present with different forms of movement disorders such as parkinsonism, dystonia, tremor, myoclonus and ataxia. The specific movement disorder in the clinical manifestation of a patient with SPG may be a clinical clue for the diagnosis.
Resumo Antecedentes As paraplegias espásticas hereditárias ou familiares (SPG) compreendem um grupo de doenças geneticamente e fenotipicamente heterogêneas caracterizadas por degeneração progressiva dos tratos corticospinais. As formas complicadas evoluem com vários outros sinais e sintomas neurológicos, incluindo distúrbios do movimento e ataxia. Objetivo Resumir as descrições clínicas de SPG que se manifestam com distúrbios do movimento ou ataxias para auxiliar o clínico na tarefa de diagnosticar essas doenças. Métodos Realizamos uma revisão da literatura, incluindo relatos de casos, séries de casos, artigos de revisão e estudos observacionais publicados em inglês até dezembro de 2022. Resultados O parkinsonismo juvenil ou de início precoce com resposta variável à levodopa foi relatado principalmente em SPG7 e SPG11. A distonia pode ser observada em pacientes com SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 e SPG76. O tremor não é um achado frequente em pacientes com SPG, mas é descrito em diferentes tipos de SPG, incluindo SPG7, SPG9, SPG11, SPG15 e SPG76. A mioclonia é raramente descrita em SPG, afetando pacientes com SPG4, SPG7, SPG35, SPG48 e SPOAN (paraplegia espástica, atrofia óptica e neuropatia). SPG4, SPG6, SPG10, SPG27, SPG30 e SPG31 podem raramente apresentar ataxia com atrofia cerebelar. E SPG autossômico recessivo, como SPG7 e SPG11, também pode apresentar ataxia. Conclusão Indivíduos com SPG podem apresentar diferentes formas de distúrbios do movimento, como parkinsonismo, distonia, tremor, mioclonia e ataxia. O distúrbio específico do movimento na manifestação clínica de um paciente com SPG pode ser uma pista clínica para o diagnóstico.
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Objective:To explore the clinical characteristics of paroxysmal kinesigenic dyskinesia (PKD) secondary to pseudohypoparathyroidism (PHP), so as to improve the clinicians′ understanding of the disease.Methods:The clinical data of 2 cases of PKD secondary to PHP in Beijing Tiantan Hospital, Capital Medical University from June 2022 to October 2022 were summarized, and the related literature was reviewed to analyze the pathogenesis, clinical manifestations, laboratory examination and imaging characteristics of the disease, as well as its treatment and prognosis.Results:Ten cases of PKD secondary to PHP were previously reported. A total of 12 cases (including these 2 cases) were included in the study, of which 7 were males (7/12) and 5 were females (5/12). The onset age was 8-23 years. The clinical manifestations of the disease included paroxysmal limb torsion, limb stiffness, limb tremor, throwing movements, and dance like movements. There were 3 cases (3/12) who had seizure at the same time. Ten cases (10/12) were induced by exercise, while 2 cases (2/12) were not mentioned the inducing factor. Eleven cases (11/12) with paroxysmal symptoms lasting less than 2 minutes can be relieved automatically. Only 1 case had a family history. Laboratory examination of all patients showed low calcium, high phosphorus and significant elevation of parathyroid hormone. The head CT scans of 10 cases (10/12) showed multiple intracranial calcifications. There were 9 cases (9/12) alone received the supplementation of calcium and active vitamin D, while 3 cases (3/12) were additionally treated with antiepileptic drugs. All cases had good prognosis.Conclusions:PHP is a rare cause of secondary PKD. A small number of patients can have seizures at the same time. Most patients have a good prognosis after receiving calcium and active vitamin D supplementation.
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Objective:To explore the related factors affecting the prognosis of patients with tardive dyskinesia, in order to find the risk factors of poor prognosis.Methods:A retrospective cohort study was implemented to collect the data of 113 patients with tardive dyskinesia from the movement disorders clinic of the Department of Neurology, Peking Union Medical College Hospital by telephone follow-up. The main variables studied included gender, age, educational level, living environment, job, cigarette smoking, alcohol drinking, hypertension, diabetes, medication type, interval from taking medicine to dyskinesia, course of dyskinesia and intervention measures. The data were analyzed by the statistical software SPSS 25.0. The quantitative data analysis was done by normality test and descriptive statistics, and the qualitative data analysis was done by χ 2 test or Fisher exact probability test. The variables with P≤0.01 in univariate analysis were included in multivariate Logistic regression analysis. Results:Among the 113 patients, 16 patients (14.16%) were cured, 27 patients (23.89%) had obvious improvement, 25 patients (22.12%) had slight improvement, 26 patients (23.01%) had no obvious change, 15 patients (13.27%) had slight deterioration, and 4 patients (3.54%) had obvious deterioration. The good prognosis rate was 60.18%, and the poor prognosis rate was 39.82%. In single factor analysis, the related factors for poor prognosis included age>52 years (χ 2=15.07, P<0.001), educational level in secondary schools and below (χ 2=8.58, P=0.003), physical labor (χ 2=4.66, P=0.031), hypertension (χ 2 = 16.38, P<0.001), diabetes mellitus (χ 2=6.06, P=0.011), dyskinesia caused by first-generation antipsychotics, calcium channel blocker or flupentixol/melitracen tablets ( P<0.001), and the duration of dyskinesia more than 2 years (χ 2 =7.05, P=0.008). Multivariate Logistic regression analysis showed that the independent risk factors for poor prognosis of tardive dyskinesia included hypertension ( OR=3.60, 95% CI 1.17-11.05, P=0.025) and dyskinesia caused by first-generation antipsychotics, calcium channel blocker or flupentixol/melitracen tablets ( OR=3.14, 95% CI 1.21-8.16, P=0.019). Conclusions:Most patients with tardive dyskinesia have a good prognosis. Hypertension and dyskinesia caused by first-generation antipsychotics, calcium channel blocker or flupentixol/melitracen tablets are independent risk factors for poor prognosis.
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Objective:To summarize and analyze the clinical and genetic characteristics of Chinese patients with adrenomyeloneuropathy (AMN).Methods:Clinical data were collected and analyzed retrospectively on AMN patients who were diagnosed by genetic testing in Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University School of Medicine from May 2008 to August 2022. Clinical characteristics of AMN patients with different types of gene mutations were compared. Loe score was used to evaluate the severity of white matter demyelinating, and the serum levels of very long-chain fatty acids (VLCFA) in patients with or without white matter demyelinating were compared. The motor function of the AMN patients was assessed using the Expanded Disability Status Scale (EDSS), and the association between EDSS scores and the course of disease was analyzed.Results:A total of 23 male patients with onset age of (29.52±9.91) years were included in this study. The first symptom of all patients was abnormal lower extremities, of which 17 patients showed stiffness and weakness in their lower limbs (73.9%, 17/23), and 6 patients showed numbness and pain in both lower limbs (26.1%, 6/23). The occurrence of symptoms was not related to the type of gene mutation. White matter demyelination occurred in 33.3% (7/21) of patients over a disease duration of (7.67±4.46) years. There was no statistically significant difference in serum VLCFA level between the white-matter demyelination group and the non-demyelination group. The EDSS score was positively correlated with the disease duration ( r=0.57, P=0.006). Sixteen ABCD1 gene mutations were found in this study, among which c.5_19delinsTCTCCAGG (p.P2Lfs *12) was reported for the first time. Four probands belonging to different families carried the c.1415_1416del (p.Q472Rfs *83) variant. Conclusions:Lower limb movement disorders and sensory dysfunction are the prominent clinical manifestations in AMN patients, with deterioration of motor function associated with the course of disease. AMN may be converted to cerebral type and VLCFA concentration is not associated with the phenotypic changes. The c.1415_1416del (p.Q472Rfs *83) mutation is a hot spot mutation of the disease.
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Objective:To investigate the effect of fascial iliaca compartment block (FICB) continuous analgesia in the early stage after admission on early postoperative cognitive and motor function in elderly patients with hip fractures.Methods:A total of 80 elderly patients with hip fractures admitted toThe First Affiliated Hospital of Tsinghua University from June 2018 to June 2020 were selected and randomly divided into the control group and the observation group, with 40 cases in each group. The control group adopted the routine postoperative analgesia regimen, while the observation group adopted FICB analgesia immediately after admission to the hospital until before the operation. Postoperative analgesia pattern was consistent with that of the control group, and both groups were given postoperative analgesia for 48 h. The scores of visual analogue scale (VAS), mini mental state assessment scale (MMSE), Harris hip score (Harris) and surgical indexes, stress indexes and incidence of adverse reactions were compared between the two groups.Results:The levels of postoperative blood glucose, cortisol, angiotensin Ⅱin the observation group were lower than those in the control group: (5.21 ± 1.03) mmol/L vs. (7.03 ± 1.06) mmol/L, (643.08 ± 77.28) nmol/L vs. (747.96 ± 82.80) nmol/L, (41.03 ± 5.22) ng/L vs. (57.15 ± 8.16) ng/L, there were statistically differences ( P<0.05). The dosage of sufentanil in the observation group was lower than that in the control group: (27.48 ± 3.25) mg vs. (58.54 ± 4.86) mg, there was statistically difference ( P<0.05). The scores of VAS score at 12 h before surgery, 12 h and 48 h after surgery in the observation group were lower than those in the control group, and the scores of MMSE score were higher than those in the control group, there were statistically differences ( P<0.05). After the surgery, the Harris scores in the observation group was higher than that in the control group: (76.09 ± 6.11) scores vs. (65.62 ± 6.13) scores, there was statistically difference ( P<0.05). The incidence rate of postoperative cognitive dysfunction (POCD) in the observation group was lower than that in the control group: 2.5%(1/40) vs. 15.0%(6/40), there was statistically difference ( χ2 = 3.91, P<0.05). Conclusions:FICB continuou sanalgesic in the early stage after admission of elderly patients with hip fracture is satisfactory, which can effectively relieve postoperative pain, while the stress response is relatively mild, the recovery of postoperative cognitive function and hip function is good.
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Antecedentes: El handball es un deporte "overhead" que expone al hombro a demandas elevadas de carga durante la práctica, lo que puede llevar a esta articulación a sufrir adaptaciones específicas. La comprensión de estas adaptaciones es importante y puede ayudar a los clínicos a crear protocolos de prevención y a desarrollar programas de condicionamiento y rehabilitación para esta población. Objetivos: Generar un perfil descriptivo de:1) movimiento escapular durante la elevación y descenso de la extremidad superior en el plano escapular, 2) distancia acromiohumeral y 3) rango de movimiento y fuerza rotacional glenohumeral en deportistas femeninas de handball de élite. Métodos: Se realizo un estudio transversal observacional y descriptivo en 23 jugadoras (Edad = 22±4.3 años; Años de practica 9.7±3.5) de handball de élite, libres de dolor. Se valoró el movimiento escapular bilateral durante la elevación y el descenso del brazo, la distancia acromiohumeral durante la abducción activa y pasiva, y el rango de movimiento articular y la fuerza rotacional GH en rotación interna y externa. Se describen estas variables, comparándolas entre ambos brazos, y entre los grupos formados en función del déficit de rotación interna GH. Resultados: No se detectaron diferencias significativas en el movimiento escapular 3D ni en la distancia acromiohumeral entre los brazos. Se observó una disminución del rango de rotación interna (Diferencia Media (DM)= -11.09°; Intervalo Confianza 95% (IC)= -17.70,-4.47) y un incremento del rango de rotación externa (DM= 12.82°; IC= 6.07°,19.58°) en el hombro dominante. El torque rotacional GH en rotación externa fue mayor (DM= 0.36 Nm/kg; IC=-0.008 Nm/kg, -0.81Nm/kg) en el hombro dominante. Las participantes con déficit de rotación interna mostraron mayores rangos de rotación superior y tilt posterior escapular durante la elevación, mayor distancia acromiohumeral en reposo y mayor disminución de esta durante la elevación de la extremidad Conclusión: Los resultados sugieren que no existen diferencias en el movimiento escapular durante la elevación y descenso de la extremidad superior, ni en la distancia acromiohumeral en las diferentes posiciones de elevación GH activa y pasiva entre el brazo dominante y no dominante de las deportistas femeninas de handball de élite. Los hallazgos indican que el brazo lanzador de estas deportistas presenta diferencias en el rango rotacional y en la fuerza, que podrían representar un factor de riesgo lesional, siendo detectables en el ambiente clínico. Las deportistas que presentan GIRD, muestran mayor movimiento escapular 3D durante la elevación, mayor DAH en reposo y mayor disminución de esta durante la elevación de la ES
Background: Handball is an overhead sport that exposes the shoulder to high demands of load during the practice, which may lead this joint to sport-specific adaptions. Understanding these adaptions is important and may help clinicians to create preventive protocols and further develop conditioning and rehabilitation program to this population. Objectives: To generate a descriptive profile of:1) scapular motion during upper extremity raising and lowering along the scapular plane, 2) acromiohumeral distance, and 3) GH rotational range of motion and rotational strength in elite female handball athletes. Methods: This is observational and descriptive cross-sectional study. Twenty-three (22±4.3 years and 9.7±3.5 years of practice) pain free elite female handball players were assessed. Outcome measures included bilateral 3D scapular movement during raising and lowering of the arm, acromiohumeral distance during passive and active abduction, GH range of motion of internal and external rotation, and strength of the internal and external rotators. These variables were described by comparing them between both arms, and among the groups according to the GH internal rotation deficit. Results: No significant differences were detected in 3D scapular motion or acromiohumeral distance between the arms. A decrease in internal rotation range of motion (Mean Difference (MD) =-11.09°;95% Confidence Interval (CI)= -17.70°, -4.47°) and an increase in external rotation range of motion (MD= 12.82°; CI=6.07°, 19.58°) and in GH rotational torque in external rotation (MD=0.36 Nm/kg; CI=-0.008Nm/kg, -0.81Nm/kg) were observed in the dominant shoulder. Participants with internal rotation deficit showed greater ranges of superior rotation and scapular posterior tilt during raising, greater acromiohumeral distance at rest and greater decrease of this during limb elevation. Conclusion: The findings suggest there are no differences in in the scapular movement during upper extremity raising and lowering along the scapular plane, nor in the acromiohumeral distance during passive and active GH between the dominant and non-dominant arm of elite female handball athletes. The findings indicate that there are differences in rotational range of motion and strength between both arms, which could represent an injury risk factor, being detectable in the clinical sports environment. Participants with internal rotation deficit showed greater scapular 3D movement, greater DAH at rest and greater decrease of it during arm elevation
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Humanos , Femenino , Escápula/lesiones , Deportes de Equipo , Trastornos del Movimiento , Epidemiología Descriptiva , Estudios Transversales , Factores de Riesgo , Tesis AcadémicaRESUMEN
La distonía por mutación en el gen KMT2B es un subtipo recientemente descrito del inicio focal de la enfermedad en los miembros inferiores que, posteriormente, evoluciona a una forma generalizada con compromiso cervical y orofaríngeo, disartria, trastorno secundario de la deglución y discapacidad intelectual. Se describe el caso de una escolar de 10 años de edad, sin antecedentes de consanguinidad ni historia familiar de enfermedad neurológica, que presentó alteración de la marcha y distonía de inicio focal, de curso progresivo a una forma generalizada que afectó sus músculos orofaciales y bulbares con alteración significativa del lenguaje y la deglución. Los estudios metabólicos y sistémicos, incluidas las neuroimágenes, no evidenciaron anormalidades. Se hizo una secuenciación genómica completa y se identificó una nueva variante, probablemente patogénica heterocigota, en el gen KMT2B, la c.1205delC, p.(Pro402Hisfs*5), que causa desplazamiento en el marco de lectura. Este hallazgo explica el fenotipo de la paciente y la distonía de inicio temprano autosómica dominante. Se reporta una nueva mutación heterocigota del gen KMT2B como causa de distonía generalizada de inicio temprano, no reportada en la literatura especializada hasta el momento. El diagnóstico de esta afección tiene implicaciones en el tratamiento y el pronóstico de los pacientes, porque las estrategias terapéuticas tempranas pueden prevenir su rápido deterioro y un curso más grave de la enfermedad.
Introduction: KMT2B-related dystonia is a recently described subtype of focal-onset dystonia in the lower limbs, evolving into a generalized form with cervical, oropharyngeal involvement, dysarthria, swallowing disorder and intellectual disability. Clinical case: We describe the case of a 10-year-old female patient, without a history of consanguinity or neurological disease. She manifested abnormal gait and dystonia with focal onset and progressive course with evolution into generalized dystonia, affecting orofacial and bulbar muscles, significant alteration of language and swallowing. Metabolic and systemic studies, including neuroimaging, were found to be normal. A complete genomic sequencing study was performed identifying a new, probably pathogenic, heterozygous variant in the KMT2B gene, c.1205delC, p. (Pro402Hisfs*5), causing displacement in the reading frame, a finding that explains the patient's phenotype and it is associated to autosomal dominant childhood-onset dystonia-28. Conclusion: We report a new heterozygous mutation in the KMT2B gene as a cause of generalized early-onset dystonia not reported in the literature until the date. The diagnosis of this pathology has implications for the treatment and prognosis of patients, given that therapeutic strategies implemented early can prevent the fast deterioration and severe course of this disease.
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Distonía , Enfermedades Genéticas Congénitas , Trastornos Distónicos , Estimulación Encefálica Profunda , Discapacidad Intelectual , Trastornos del MovimientoRESUMEN
Objective: To compare the effect of scalp acupuncture and scalp acupuncture plus acupuncture exercise therapy (AET) on walking ability in children with spastic cerebral palsy (CP). Methods: A total of 60 spastic CP children with gross motor function classification system (GMFCS) grades Ⅰ-Ⅲ were divided into a control group and an observation group by the random number table method, with 30 cases in each group. Both groups were treated with the same conventional rehabilitation and scalp acupuncture therapy for CP. The control group received conventional rehabilitation first and then scalp acupuncture. The observation group received AET, which was to receive the conventional rehabilitation and scalp acupuncture simultaneously. Before and after treatment, the clinical efficacy was evaluated by the modified Ashworth scale (MAS) score, scores of dimensions D and E of the gross motor function measure (GMFM) scale, walking speed, and walking distance. Results: During treatment, there were 2 dropouts in the observation group. After 3 courses of treatment, the MAS scores in both the control group and observation group decreased compared with the same group before treatment (P<0.05), and the scores of dimensions D and E of the GMFM, walking speed, and walking distance were increased (P<0.05); the between-group comparison showed that the MAS score in the observation group was lower than that in the control group (P<0.05), and the scores of dimensions D and E of the GMFM, walking speed, and walking distance in the observation group were higher or longer than those in the control group (P<0.05). Conclusion: W ith the same treatments, scalp acupuncture combined with AET is superior to the conventional scalp acupuncture method in reducing lower-limb muscle tone, improving standing balance ability, and walking stability in children with spastic CP.
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Objective:Through a typical case of corticobasal degeneration (CBD) with primary progressive aphasia (PPA) to analyze the clinical characteristics of CBD and the special manifestations of aphasia with that disease.Methods:Retrospective analysis was performed on a patient with PPA based CBD who was admitted to the First Affiliated Hospital, Sun Yat-sen University in July 2020 to summarize the clinical features and diagnostic thinking of CBD.Results:The patient was a 59-year-old male, manifested rapidly progressive dysfunction of language and memory function. The aphasia was mainly featured as slow speech, reduced content and grammatical errors, and diagnosed as PPA, non-fluent grammatical variation. The imaging results showed the atrophy of the left frontal lobe, parietal lobe, basal ganglia and thalamus, coupled with the reduction in 18F-fluorodeoxyglucose radioactive uptake. The patient was finally diagnosed as possible CBD. Conclusions:PPA as the initial manifestation of CBD is very rare in clinical practice. The high non-specificity of clinical features and the lack of typical motor symptoms result in the difficulty of correct diagnosis of CBD. Timely functional imaging in nuclear medicine and reliable biomarkers help to facilitate early diagnosis of atypical CBD.
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Objective:To investigate the correlation between basal ganglia (BG) enlarged perivascular space (EPVS; BG-EPVS) and cognitive and motor longitudinal changes in patients with newly diagnosed Parkinson′s disease and its different motor subtypes [tremor dominant (TD), postural instability and gait disorder (PIGD)].Methods:A total of 131 Parkinson′s disease patients from the Parkinson Progression Markers Initiative (PPMI) database were screened and their clinical data were collected at baseline, 1 year and 2 years of follow-up. The number of EPVS in different brain regions was assessed on axial T 2-weighted images by cranial imaging data, and they were divided into two groups according to the degree of EPVS: BG-EPVS- and BG-EPVS+. Parkinson′s disease patients were divided into TD and PIGD groups by Movement Disorder Society Unified Parkinson′s Disease Rating Scale (MDS-UPDRS) score, and the number and clinical data of EPVS were compared between the two groups, and the correlation between the number and degree of BG-EPVS at baseline and longitudinal changes in clinical outcome measures of Parkinson′s disease and its different motor subtypes (TD, PIGD) was analyzed. Results:BG-EPVS was positively correlated with age ( r=0.32, P<0.01), Hoehn & Yahr stage ( r=0.21, P<0.05), serum neurofilament light chain ( r=0.18, P<0.05) and Epworth Sleepiness Scale score ( r=0.20, P<0.05) in all Parkinson′s disease patients. At baseline and 2 years, the number of BG-EPVS was more in the PIGD group than in the TD group (11.0±4.2 vs 9.0±3.8, t=2.18, P=0.03; 16.3±6.7 vs 12.6±4.6 , t=2.71 , P=0.007;after correction).At baseline, more BG-EPVS in patients with Parkinson′s disease and its motor subtypes (TD, PIGD) was significantly associated with baseline motor outcomes ( β=0.66, P=0.01; β=0.64, P=0.008; β=0.91, P=0.009), but not with cognitive outcomes. By linear mixed effects model analysis, BG-EPVS numbers and moderate to severe BG-EPVS were positively correlated with motor outcomes over time in patients with Parkinson′s disease and its motor subtypes (TD, PIGD) ( β=0.51, P=0.008; β=0.59, P=0.025; β=0.80, P=0.038). After dividing BG-EPVS in Parkinson′s disease patients into different degrees, moderate to severe BG-EPVS was positively correlated with motor outcomes over time ( β=3.30, P=0.031). Conclusion:In this longitudinal study, bigger baseline BG-EPVS numbers were found to be positively associated with longitudinal changes in dyskinesia severity in Parkinson′s disease patients, not with cognitive changes, and be able to predict decline in motor function over a 2-year follow-up period.
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Objective:To confirm the efficacy and safety of cinepazide maleate injection in acute ischemic stroke patients with obvious motor function deficit.Methods:This study is a subgroup analysis of multi-center, randomized, double-blind, placebo-controlled phase Ⅳ clinical trial. A total 812 patients of acute ischemic stroke with obvious limb motor deficit [motor function of limbs score in National Institutes of Health Stroke Scale (NIHSS) ≥4] were enrolled in this subgroup analysis. Patients received either cinepazide maleate injection or placebo. The treatment period was 14 days and follow-up was 90 days. The efficacy endpoints included the proportions of patients with a modified Rankin Scale (mRS) score ≤2, mRS score ≤1 and Barthel Index <95 on day 90. Safety was evaluated by recording all adverse events, monitoring vital signs, laboratory parameters and electrocardiogram.Results:A total of 732 patients were involved in the final efficacy analysis (361 in cinepazide maleate group and 371 in control group). The baseline limb motor function score of NIHSS was 5.23±1.43 in the cinepazide maleate group whereas 5.20±1.36 in the control group. Logistic regression analysis showed that following treatment for 90 days, the proportion of patients with a mRS score ≤2 was significantly higher in the cinepazide maleate group than in the control group [56.0% (202/361) vs 44.2% (164/371), OR=0.60, 95% CI 0.44-0.82, P=0.002]. The proportion of patients with a mRS score ≤1 was higher in the cinepazide maleate group than in the control group [43.3% (139/361) vs 35.2% (118/371), OR=0.69, 95% CI 0.50-0.97, P=0.031]. The proportion of patients with a Barthel Index <95 on day 90 was significantly lower in the cinepazide maleate group than in the control group [45.2% (145/361) vs 55.2% (185/371), OR=0.64, 95% CI 0.46-0.88, P=0.007]. During the treatment and follow-up period, the incidence of the most common adverse events in the cinepazide maleate group was 50.4% (199/395). Constipation and abnormal liver function were more common, but there were no statistically significant differences between the two groups. Conclusion:Cinepazide maleate injection is superior to placebo in improving neurological function and activities of daily living, reducing disability, and promoting functional recovery and safe in patients with acute ischemic stroke with obvious limb motor deficit.
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RESUMEN Las distonías son trastornos del movimiento caracterizados por contracciones musculares sostenidas que producen movimientos repetitivos de torsión o posturas anormales. Pueden clasificarse según la etiología como primarias (formas idiopáticas y genéticas) o secundarias. La presentación asociada con episodios generalizados, intensos y con exacerbación de contracturas musculares intensas que suelen ser refractarias a la farmacoterapia tradicional se conoce como status distónico o tormenta distónica. Se presenta el caso de un paciente de 33 arios, con antecedente de sordera congénita, trastorno por consumo de sustancias psicoactivas y tratamiento psicofarmacológico con antipsicóticos, que presentó un cuadro distónico grave que evolucionó a un status distónico.
ABSTRACT Dystonia is a movement disorder characterised by sustained muscle contractions that produce repetitive twisting movements or abnormal postures. It can be classified according to the aetiology as primary (idiopathic and genetic forms), or secondary. The presentation associated with generalised, intense episodes and with exacerbation of severe muscle contractures and usually refractory to traditional pharmacotherapy is known as dystonic status or dystonic storm. In the present article, a case is presented of a 33-year-old patient with a history of congenital deafness, stimulant use disorder and on psychopharmacological treatment with antipsychotics, who presented with a severe dystonic reaction that evolved to a status dystonicus.
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As tecnologias portáteis cada vez mais estão sendo utilizadas e tornaram-se necessárias para o dia a dia da população de maneira geral, entretanto, o uso em excesso, más posturas durante o uso, padrão inadequado ergonômico, potencializado pelo sedentarismo, estresse, expõem seus usuários a riscos de desenvolver processos agudos e crônicos de dor e possíveis lesões osteomioarticulares. Objetivo: Analisar a prevalência dos sintomas osteomioarticulares pelo uso de tecnologias portáteis em docentes de uma instituição privada. Materiais e métodos: Trata-se de um estudo descritivo e observacional transversal, de caráter quantitativo, composta por uma amostra de 68 docentes do centro de ciências biológicas e da saúde na Universidade da Amazônia. As variáveis encontradas foram mensuradas e tabuladas visando eliminar erros utilizando o software microsoft excel, assim como, foram feitas análises descritas dos dados através do software bioestat. Resultados: Como resultados, foi constatado que docentes de uma instituição privada apresentam em grande maioria sintomas osteomioarticulares pelo uso de tecnologias portáteis, principalmente para a região cervical (49% dos participantes), seguido da região lombar (46% dos participantes) obtendo valores significantes para esses e demais achados(p<0,05). Conclusão: Os resultados deste estudo apresentam importância sobre vários segmentos, principalmente para os docentes, pois fornece fundamentais informações e descrições acerca do uso de tecnologias portáteis e possíveis repercussões no sistema osteomioarticular. (AU)
Portable technologies are increasingly being used and have become necessary for the daily life of the population in general, however, overuse, bad postures during use, inadequate ergonomic pattern, enhanced by sedentary lifestyle, stress, expose their users at risk of developing acute and chronic pain processes and possible musculoskeletal injuries. Objective: To analyze the prevalence of musculoskeletal symptoms through the use of portable technologies in teachers of a private institution. Materials and methods: It is a descriptive and observational cross-sectional study, of quantitative character, composed of a sample of 68 professors from the center of biological sciences and health at the University of the Amazon. The variables found were measured and tabulated in order to eliminate errors using the microsoft excel software, as well as described analyzes of the data using the bioestat software. Results: As a result, it was found that professors at a private institution mostly present musculoskeletal symptoms due to the use of portable technologies, mainly for the cervical region (49% of the participants), followed by the lumbar region (46% of the participants) obtaining significant values for these and other findings (p <0.05). Conclusion: The results of this study are important in several segments, mainly for teachers, as it provides fundamental information and descriptions about the use of portable technologies and possible repercussions on the osteomioarticular system. (AU)