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OBJECTIVE@#To explore the clinical characteristics and genetic variant of a patient with desminopathy manifesting with atypical symptoms.@*METHODS@#A patient who was admitted to the Department of Neurology of Jing'an District Central Hospital on February 24, 2021 was selected as the study subject. Clinical data, laboratory tests, muscle pathology, muscle magnetic resonance imaging (MRI) and genetic testing of the patient were retrospectively analyzed.@*RESULTS@#The patient had developed myalgia after lower limb activity, and gradually developed asymmetrical muscle weakness and atrophy of the lower limbs. Cardiac examination revealed atrioventricular block and decreased left ventricular diastolic function. Muscle MRI showed that semitendinosus, sartorius, gracilis, fibula, gastronemius and supinator muscles were selectively involved at the early stage. Muscle biopsy confirmed pathological changes of desmin positive myofibrils. Genetic testing revealed that the patient has harbored a c.1024A>G (p.n342d) missense variant in exon 6 of the DES gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PS4_moderate+PM2_supporting+PP3_moderate+PP1).@*CONCLUSION@#Desmin disease has a great clinical heterogeneity. Postexercise myalgia of lower limbs is a rare clinical phenotype. For patients harboring the c.1024A>G (p.n342d) variant of the DES gene, in addition to semitendinosus and fibula, Cardiac involvement is relatively insidious and easy to be ignored in clinic. Timely muscle MRI, muscle biopsy and gene detection will help the early diagnosis of the disease.
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Humanos , Mialgia/genética , Desmina/genética , Estudos Retrospectivos , Músculo Esquelético , Extremidade Inferior , MutaçãoRESUMO
Objective:To investigate the distribution and morphological characteristics of brain magnetic resonance imaging (MRI) lesions in patients with myelin oligodendrocyte glycoprotein (MOG) antibody related demyelinating diseases and aquaporin-4 (AQP4) antibody positive neuromyelitis optica spectrum disorders (NMOSD) and their clinical value in early diagnosis.Methods:A total of 35 patients with MOG antibody related demyelinating diseases [20 males and 15 females; aged 31 (25, 43) years] and 36 patients with AQP4 antibody positive NMOSD [3 males and 33 females; aged 42 (29, 54) years] were collected retrospectively from September 2018 to June 2021 in Chenzhou First People′s Hospital and the Affiliated Hospital of Qingdao University which were classified as MOG group and AQP4 positive group respectively. All patients underwent routine cranial MRI scanning before treatment and the location, shape and quantity of intracranial lesions were recorded. Wilcoxon rank sum test was used to compare the number of different types of lesions between the two groups. Logistic regression analysis was used to evaluate the significance of different lesions for the two diseases.Results:There were 7 types of lesions with significant differences in different parts and shapes. Stepwise Logistic regression showed that cortical and juxtacortical lesions ( OR=21.91, 95% CI 3.09-61.69, P<0.05) and infratentorial peripheral white matter lesions ( OR=10.48, 95% CI 2.00-18.89, P<0.05) were the most important risk factors in the MOG group. The incidence of cortical and juxtacortical lesions in the MOG group was 51.4% (18/35), which was higher than that in the AQP4 positive group (2.8%, 1/36; χ2=19.02, P<0.01). The incidence of infratentorial peripheral white matter lesions in the MOG group was 31.4% (11/35), which was higher than that in the AQP4 positive group (5.6%, 2/36; χ2=6.31, P<0.05). Receiver operating characteristic (ROC) curve showed that peripheral lesions [including 6 types of lesions such as supratentorial soft meningitis, cortical encephalitis, cortical and juxtacortical lesions, infratentorial soft meningitis, infratentorial soft meningeal demyelination and infratentorial peripheral lesions, area under curve (AUC)=0.93] were more important than cortical and juxtacortical lesions (AUC=0.75) and central lesions (supratentorial paraventricular white matter lesions, diencephalon, infratentorial paraventricular lesions,AUC=0.64), which had higher diagnostic efficiency. Conclusions:The incidence of intracranial lesions in MOG antibody related demyelinating disease was higher than that in AQP4 positive NMOSD, and the distribution and morphology of intracranial MRI lesions in the two diseases had their characteristic manifestations. Identifying the distribution patterns of peripheral lesions (distributed along pia mater) and central lesions (distributed along ependyma) had a certain reference significance for distinguishing the two groups of diseases.
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Objective To analyze the characteristics of the non-language-based cognitive function in patients with aphasia after stroke.Methods Thirty patients of the first infarction with aphasia and thirty stroke patients without aphasia were recruited.The aphasia deficits in patients were evaluated using the Aphasia Battery of Chinese(ABC).The non-language-based cognitive assessment scale (NLCA) was applied to analyze the cognitive function in the two groups.The stroke aphasic depression questionnaire hospital version (SADQ-H)was applied to analyze the depression in the two groups.Results The score in NLCA of the aphasia group was significantly lower than that of control group((50.01± 14.01)vs(66.13±5.95),P＜0.01).There was high correlation between the total and sub-scores of NLCA and ABC in both groups(P＜0.01,P＜0.05).The score in SADQ-H of the aphasia group was significantly higher than that of control group((21.83±7.37)vs(16.13±5.84),P＜0.01).The total score for the aphasia patients shown by the SADQ-H was negatively related with the total score of the NLCA(r=-0.468,P＜0.05).Conclusion There is non-language-based cognitive dysfunction in patients with aphasia after stroke,and the severity of depression affects cognitive function.
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<p><b>OBJECTIVE</b>To analyze the neurolinguistic features of a Chinese patient with pure alexia in acute and convalescent stages.</p><p><b>METHODS</b>We assessed the reading and writing abilities of the patient with the Aphasia Battery of Chinese (ABC), the reading examination of Chinese characters (1999, Lin) and the Chinese agraphia battery (CAB).</p><p><b>RESULTS</b>In the ABC examination in the acute phase, the patient performed well in oral expression and comprehension, and the prominent linguistic abnormalities were alexia and merging agraphia; in the convalescent phase, the recovery of alexia was better than that of agraphia. In reading examination of Chinese characters, shape errors were the main reading disorders in the acute phase with a few semantic errors, regularization errors and mistakes in pronunciation, but only shape errors reappeared in the recovery period. CAB examination showed impairment of writing for pictures and dictation abilities in the recovery period but recovery of other writing abilities. The writing disorder was manifested as aphasic agraphia, with obvious dysorthography and lexical errors; the patient was capable of spontaneous writing only after spontaneous speech, and was able to read the written words.</p><p><b>CONCLUSION</b>The linguistic components of the Chinese patient with pure alexia showed different patterns of damage and recovery, suggesting the difference in their respective neuropsychological pathways.</p>
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Humanos , Masculino , Pessoa de Meia-Idade , Alexia Pura , Psicologia , Reabilitação , Testes Neuropsicológicos , Recuperação de Função Fisiológica , FalaRESUMO
Objective To develop the Non-Language-Based Cognitive Assessment (NLCA) applicable to patients with aphasia and to validate the reliability and validity of NLCA.Methods Seventy-three normal subjects and 32 patients with mild cognitive impairment were evaluated by the NLCA and the Mini-Mental State Examination.Forty subjects were randomly selected from the normal subject samples were assessed with the NLCA,the Auditory Verbal Learning Test,the Rey-Osterrieth Complex Figure Test (Form A),the Stroop Color-Word Interference Test,the Raven's Standard Progressive Matrices (Part A),and the WAIS Digit Span Test.Results The NLCA had high inter-rater agreement (Cronbach's α coefficient 0.836),reliability among the assessors 0.895-0.953,test-retest reliability 0.863-0.952 at at a 2-6 week interval.The years of education was significantly correlated with NLCA (r =0.852,r ＜ 0.01).When the Montreal Cognitive Assessment was used as diagnostic criteria,the area under the receiver operating characteristic curve was 0.899 (95％ confidence interval 0.827-0.972).When cutoff at 70,the NLCA had had high sensitivity,specificity,positive predictive value and negative predictive value in the identification of patients with mild cognitive impairment.Conclusions The NLCA has good reliability and validity.It is an effective cognitive function assessment that meets the basic requirements of the neuropsychological tests.
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Language is an unique complex psychological activity of human beings.Language barrier is a decline of effective activities and interactions in supporting the cognitive process of language behavior.Cognitive function is affected to a certain degree in patients with post-stroke aphasia.Therefore,accurately identifying these cognitive impairments contribute to the treatment and rehabilitation of the patients with aphasia.The assessment of the severity of cognitive impairment needs to use the cognitive assessment scales.This article reviews the cognitive assessment scales that are applicable for patients with post-stroke aphasia.