摘要
Diabetes peripheral neuropathy (DPN) is one of the most common complications of diabetes. It not only causes physical disability and unbearable pain, but also may lead to emotional and psychological problems, reduce the quality of life of patients, and increase mortality. Although early diagnosis of diabetes may improve the clinical prognosis, the occurrence of DPN is sometimes unavoidable and the treatment is limited. This article summarizes the clinical features, diagnosis, investigations and treatment of DPN by reviewing the latest literature.
摘要
Electromyography and neurophysiological examination are not only a clinical examination technique, but also play a more and more important role in the interpretation and solution of clinical problems of neuromuscular diseases by emphasizing the correlation between clinical and neurophysiology. In order to accurately locate the lesion site, further provide pathophysiological information, and assess the severity and course of the disease, it is necessary to develop a personalized examination program according to the symptoms and signs of patients, and it is also necessary to conduct systematic standardized training for clinicians and electrophysiological practitioners.
摘要
Objective:To study the neurophysiological features of Kennedy disease (KD) and to figure out the function of the nervous system.Methods:Subjects were recruited from the outpatient and the ward of Peking University Third Hospital from November 2010 to November 2022. Sixty patients with KD (29 patients with KD alone, 31 KD cases with the complication of diabetes mellitus) and 60 patients with diabetic polyneuropathy (DPN) were included in this study. Electrophysiological tests were performed in all subjects, including electromyogram, nerve conduction study, somaosensory evoked potential (SEP), contact heat evoked potential (CHEP) and triple stimulation technique (TST). Student′s t-tests were conducted to compare differences intra or inter groups of nerve conduction velocity and action potential of nerve conduction study, latency and interphase of SEP, initial peak latency of CHEP and other parameters. Results:Compared with the normative value, the amplitude of the sensory nerve action potential (SNAP) declined by 30%-80% in KD patients [median nerve (0.7±0.4) μV, ulnar nerve (0.8±0.3) μV, sural nerve (1.8±0.1) μV], the amplitude of the median and ulnar nerves was lower than the sural nerves ( t=2.43, P=0.010; t=2.40, P=0.010). The conduction time of peripheral segments of SEP and CHEP was prolonged by 115%-130%, while that of the central segments was prolonged by 104%-115% in SEP. TST test/TST control declined by 40%-60% in 17 patients with KD. The amplitude of SNAP declined by 30%-50% in patients with DPN [median nerve (2.9±0.5) μV, ulnar nerve (2.6±0.6) μV, sural nerve (1.6±0.2) μV], the amplitude of the sural nerves was lower than the median and ulnar nerves ( t=2.52, P=0.006; t=2.47, P=0.007). The conduction time of peripheral segments of SEP and CHEP was prolonged by 75%-112%, while that of the central segments was normal in both SEP and CHEP in DPN patients. Compared with DPN patients, the upper limb SNAP amplitude was lower in KD patients with the complication of diabetes mellitus [median nerve (0.7±0.3) μV, t=3.18, P=0.001; ulnar nerve (0.8±0.4) μV, t=3.20, P=0.001]. Conclusions:Sensory nerve is involved in patients with KD, including the large fiber and the small one. The central segments was abnormal in the deep sensory pathway, and the pyramid tract may be involved besides the anterior horn cell.
摘要
Objective:To investigate the clinical and genetic characteristics of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with replication factor C subunit 1 (RFC1) gene mutation to improve the understanding of this disease.Methods:A case of CANVAS diagnosed in the Peking University Third Hospital in January 2021 was reported. Detailed genetic analyses of ataxia were performed with DNA extracted from the peripheral blood of the patient. Studies including pathogenic variants of RFC1 gene causing CANVAS were reviewed and the clinical and genetic characteristics of the disease were summarized.Results:The patient was a 51-year-old female with the prominent manifestation of progressive walking instability. And the clinical data met the diagnostic criteria of CANVAS. The genetic tests excluded other hereditary ataxia mutations and identified the biallelic expansion of the pathogenic variant structure (AAGGG)exp repeat amplification in RFC1 gene. A total of 14 studies on CANVAS with RFC1 gene mutation were reviewed. The overall mutation rate of RFC1 gene in CANVAS was 68%-100%, and it varied in sporadic and familial CANVAS. And the mutation had ethnic differences.Conclusions:Among adult patients with late-onset ataxia, the combination of brain magnetic resonance imaging, electrophysiology tests and vestibular function examination is beneficial to the identification of CANVAS. And the genetic test of RFC1 gene has significant value in the diagnosis of this disease. This patient with CANVAS expands the disease spectrum of ataxia in China, and confirms that RFC1 gene mutation is of great significance in the screening of ataxia disorders in the Chinese population.
摘要
Amyotrophic lateral sclerosis (ALS) is one of the fatal neurodegenerative diseases. Muscle ultrasound can be used in ALS to make early diagnosis, strengthen disease management and differentiate other neuromuscular diseases from it. In ALS patients, morphological changes such as muscle atrophy, increased echo intensity and fasciculation can be detected by muscle ultrasound which is helpful in assessing respiratory and swallowing functions as well. High frequency ultrasound has the clinical value in the diagnosis, monitoring and prognosis evaluation of ALS patients.
摘要
In order to improve the learning enthusiasm and initiative of residents, researchers developed the multimedia courseware combined with network teaching mode after repeated exploration and practice. The relevant knowledge of neurology was arranged into several topics, a series of multimedia courseware were formulated, and recorded courses and live courses were made. Through the practice, this new teaching mode has won unanimous praise from residents for its high efficiency, easy operation and flexibility.
摘要
Objective:To investigate small fiber neuropathy in patients with amyotrophic lateral sclerosis (ALS) by corneal confocal microscopy.Methods:A total of 57 ALS patients were consecutively enrolled in Department of Neurology between June 2015 and February 2016, including 37 men and 20 women with mean age 24-80 (52±11)?years. There were 30 controls including 21 men and 9 women with mean age 23-76 (55±13) years. All subjects underwent corneal confocal microscopy (CCM), contact heat evoked potential (CHEP) and skin sympathetic reflection (SSR) to quantify small nerve fiber pathology. Four parameters, such as nerve fiber length (NFL), nerve branch density (NBD), nerve fiber density (NFD) and nerve fiber tortuosity (NFT) were assessed by corneal confocal microscopy. All statistical calculations were conducted using SPSS version 12.0.Results:Compared with control group, corneal nerve fiber length (NFL),nerve fiber density (NFD) were significantly decreased [(12.2±4.4)mm/mm 2 vs.(15.1±4.5) mm/mm 2, P=0.028;(50.8±24.0)/mm 2 vs. (68.3±16.4)/mm 2, P=0.002],and nerve fiber tortuosity (NFT) were significantly increased [(2.6±1.0)level vs.(1.0±0.5)level, P<0.01)] in SFN group, while nerve branch density (NBD) were comparable ( P=0.700).The course of disease is correlated with NFT ( r=0.25, P=0.030). Conclusions:CCM is a new sensitive noninvasive clinical technique that detects early small fiber nerve damage in patients with ALS.
摘要
Objective:To investigate the genetic distribution of pathogenic genes of Charcot-Marie-Tooth diseases (CMT) in Chinese Han population, and compare the similarity and difference with the data in Peking University Third Hospital in 2013.Methods:Five hundred and twenty families with CMT and related diseases in Peking University Third Hospital and China-Japan Friendship Hospital from January 2007 to March 2021 were collected. After peripheral myelin protein 22 (PMP22) gene duplication and deletion mutations were initially detected by multiple ligation probe amplification, the probands of these families were sequenced by next-generation sequencing (NGS) gene panel or whole exome sequencing, and validated by Sanger sequencing.Results:Among the 520 families, 336 CMT families were genetically confirmed, and the mutation detection rate increased from 48.6% (51/105) in 2013 to 64.6% (336/520) in 2021 (χ 2=9.54, P=0.003). Among them, 139 families had PMP22 gene duplication mutation (139/520, 26.7%), 46 families had gap junction beta-1 (GJB1) gene mutation (46/520, 8.8%), 26 families had mitofusin-2 (MFN2) gene mutation (26/520, 5.0%), 12 families had myelin protein zero (MPZ) gene mutation (12/520, 2.3%), 11 families had PMP22 gene point mutation (11/520, 2.1%), and 10 families had heat shock protein B1 gene mutation (10/520, 1.9%). There were 10 families with ganglioside induced differentiation associated protein 1 (GDAP1) gene mutation (10/520, 1.9%), 8 families with SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene mutation (8/520, 1.5%), 7 families with immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene mutation (7/520, 1.3%), 6 families with MORC family CW-type zinc finger 2 (MORC2) gene mutation (6/520, 1.2%), 5 families with sorbitol dehydrogenase (SORD) gene mutation (5/520, 1.0%), 16 families with very rare gene mutation (16/520, 3.1%) and 184 families without genetic diagnosis (184/520, 35.4%). Conclusions:Compared with the results in 2013, the 3 most common genes affecting CMT were still PMP22, GJB1 and MFN2 genes, but the proportion difference of patients with MPZ gene mutation gradually decreased with other genes such as SH3TC2 and GDAP1 genes. The proportion of newly discovered CMT genes, such as MORC2 and SORD genes, was similar with IGHMBP2 gene, which should be paid more attention. NGS greatly improved the detection rate of CMT, especially for patients with autosomal recessive-CMT.
摘要
Blumea balsamifera belonging to Blumea of Compositae family is a perennial herb or subshrub ，which is the only source of Traditional Chinese medicine Aipian and ethnic medicine essential oil of B. balsamifera . B. balsamifera contains volatile oil，flavonoids，sesquiterpenoids，phenylpropanoids，etc.，and shows antibacterial ，anti-inflammatory，analgesic，treating burns and scalds，neuroprotective and antioxidant effects ，etc. In this paper ，the chemical constituents and pharmacological activities are summarized by reviewing the domestic and foreign research literatures ，and it is expected to provide a reference for the in-depth research and development and utilization of B. balsamifera .
摘要
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that mainly affects upper and lower motor neurons. The etiology of ALS has not been fully understood, and it is believed that the interaction of genes, aging and the environment can contribute to its pathogenesis. The gut microbiota of human body plays an important role in substance metabolism, food digestion and nutrient absorption. The diversity and stability of gut microbiota play an important role in maintaining the health of the elderly population. Diverse and healthy gut microbiota can prevent the occurrence of neurodegenerative diseases. The change of gut microbiota may lead to the onset and progression of ALS, and its mechanism may include the destruction of intestinal barrier, the production of toxins, the induction of inflammatory response, and metabolic disorders. Therapies based on gut microbiota may provide new ideas for the treatment of ALS.
摘要
Background@#and Purpose The rate of donepezil discontinuation and the underlying reasons for discontinuation in Asian patients with Alzheimer’s disease (AD) are currently unknown. We aimed to determine the treatment discontinuation rates in AD patients who had newly been prescribed donepezil in routine clinical practice in Asia. @*Methods@#This 1-year observational study involved 38 institutions in seven Asian countries, and it evaluated 398 participants aged 50–90 years with a diagnosis of probable AD and on newly prescribed donepezil monotherapy. The primary endpoint was the rate of donepezil discontinuation over 1 year. Secondary endpoints included the reason for discontinuation,treatment duration, changes in cognitive function over the 1-year study period, and compliance as assessed using a clinician rating scale (CRS) and visual analog scale (VAS). @*Results@#Donepezil was discontinued in 83 (20.9%) patients, most commonly due to an adverse event (43.4%). The mean treatment duration was 103.67 days in patients who discontinued. Among patients whose cognitive function was assessed at baseline and 1 year, there were no significant changes in scores on the Mini-Mental State Examination, Montreal Cognitive Assessment, and Trail-Making Test–Black and White scores, whereas the Clinical Dementia Rating score increased significantly (p<0.001). Treatment compliance at 1 year was 96.8% (306/316) on the CRS and 92.6±14.1% (mean±standard deviation) on the VAS. @*Conclusions@#In patients on newly prescribed donepezil, the primary reason for discontinuation was an adverse event. Cognitive assessments revealed no significant worsening at 1 year, indicating that continuous donepezil treatment contributes to the maintenance of cognitive function.
摘要
Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease characterized by progressive loss of upper and lower motor neuron. Insomnia is one of the widespread but underappreciated non-motor symptoms in ALS patients, which may not only seriously affect patients′ quality of life, but also reflect the lesions of central nervous system in ALS. This review summarizes the insomnia symptoms reported in current ALS studies, and summarizes the somatic factors and central nervous system changes associated with insomnia in ALS patients, so as to provide ideas for the development of effective intervention measures and future research.
摘要
OBJECTIVE：To establish the fingerprint of Adiantum capillusveneris from different producing areas ，and to conduct chemometric analysis and content determination of differential components ，so as to provide reference for quality control of A. capillusveneris . METHODS ：HPLC-DAD combined with Similarity Evaluation System of TCM Chromatogramtic Fingerprint （2004 A edition ）were used to establish fingerprint of 19 batches of A. capillusveneris from different producing areas （S1-S19）. Common peaks were confirmed and their similarities were evaluated. Chemometric analysis methods such as cluster analysis ， principle component analysis （PCA），orthogonal partial least squares discriminant analysis （OPLS-DA）were used to evaluate the quality of 19 batches of A. capillusveneris from different producing areas ，screen the differential components ，and determine the contents of some differential components. RESULTS ：Among 19 batches of A. capillusveneris from different producing areas ，22 common peaks were confirmed ；peak 9 was chlorogenic acid ，peak 17 was quercetin- 3-O-β-D-glucopyranoside，peak 20 was kaempferol-3-O-rutoside；the similarity of 19 batches of sample were 0.677-0.962. Through cluster analysis ，it was found that S 7 and S 10 were clustered into one category ；S15 and S 18 were clustered into one category ；and S 1-S6，S8，S9，S11-S14，S16，S17 and S 19 were clustered into one category. PCA and OPLS-DA found that S 7 and S 10 were clustered into one category ；S15 were clustered into one category ；S18 were clustered into one category ；S1-S6，S8，S9，S11-S14，S16，S17 and S 19 were clustered into one category. Chlorogenic acid ，quercetin-3-O-β-D-glucopyranoside，kaempferol-3-O-rutoside and chemical composition represented by peak 14 were the differential components of the〔2017〕2841）； medicinal material. Among 19 batches of A. capillusveneris ， average contents of chlorogenic acid and quercetin- 3-O-β-D- glucopyranoside and kaempferol- 3-O-rutoside were 0.10-4.25， 0.31-7.11，0.61-12.00 mg/g，respectively. CONCLUSIONS ： 电话：0851-86614212。 HPLC-DAD fingerprints of A. capillusveneris from different producing areas are establishe d in the study ，and three common peaks are identified. Four differential components affecting the quality of A. capillusveneris are screened ， and the contents of chlorogenic acid ， quercetin-3-O-β-D-glucopyranoside and kaempferol-3-O-rutoside in A. capillusveneris from different producing areas were significantly different.
摘要
Background@#and Purpose The rate of donepezil discontinuation and the underlying reasons for discontinuation in Asian patients with Alzheimer’s disease (AD) are currently unknown. We aimed to determine the treatment discontinuation rates in AD patients who had newly been prescribed donepezil in routine clinical practice in Asia. @*Methods@#This 1-year observational study involved 38 institutions in seven Asian countries, and it evaluated 398 participants aged 50–90 years with a diagnosis of probable AD and on newly prescribed donepezil monotherapy. The primary endpoint was the rate of donepezil discontinuation over 1 year. Secondary endpoints included the reason for discontinuation,treatment duration, changes in cognitive function over the 1-year study period, and compliance as assessed using a clinician rating scale (CRS) and visual analog scale (VAS). @*Results@#Donepezil was discontinued in 83 (20.9%) patients, most commonly due to an adverse event (43.4%). The mean treatment duration was 103.67 days in patients who discontinued. Among patients whose cognitive function was assessed at baseline and 1 year, there were no significant changes in scores on the Mini-Mental State Examination, Montreal Cognitive Assessment, and Trail-Making Test–Black and White scores, whereas the Clinical Dementia Rating score increased significantly (p<0.001). Treatment compliance at 1 year was 96.8% (306/316) on the CRS and 92.6±14.1% (mean±standard deviation) on the VAS. @*Conclusions@#In patients on newly prescribed donepezil, the primary reason for discontinuation was an adverse event. Cognitive assessments revealed no significant worsening at 1 year, indicating that continuous donepezil treatment contributes to the maintenance of cognitive function.
摘要
OBJECTIVE@#To explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS).@*METHODS@#We performed next-generation sequencing for 166 Chinese ALS patients to screen for possible pathogenic rare variants of HSPB1. The control individuals were obtained from 1000 Genome Project and an in-house whole-exome sequencing database. The Sequence Kernel Association Test (SKAT) and the SKAT-optimal test (SKAT-O) were used to identify the association between rare HSPB1 variants and ALS.@*RESULTS@#We identified 3 possible pathogenic rare variants of HSPB1 (all were missenses), including c.379C>T (p.R127W), c.446A>C (p.D149A) and c.451A>C (p.T151P). Compared with 1000 Genome Project, SKAT p=3.61×10@*CONCLUSIONS@#Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.
Subject(s)
Humans , Amyotrophic Lateral Sclerosis/genetics , Asian People , Heat-Shock Proteins , Heterozygote , High-Throughput Nucleotide Sequencing , Molecular Chaperones , Phenotype摘要
The 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease was held in Perth, Australia from December 4 to 6, 2019. This article mainly introduces the clinical research of this meeting, including epidemiology, non-motor symptoms, auxiliary examinations and biomarkers, etc., while the basic research includes genomics and genetics, protein metabolism abnormalities, neuroimmunity and inflammation, synapse pathology and preclinical treatment strategies,
摘要
The co-existence of different neurodegenerative diseases in the same case has received increasing attention and reports. A rare comorbidity of amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy (PSP) in a sporadic patient was reported. The patient presented with pseudobulbar palsy, freezing gait, and developed muscle weakness and fasciculation. Brain magnetic resonance imaging, positron emission computed tomography and whole exomesequencing showed no evident abnormality. The patient had no response towards the treatment of levodopa, and received supportive treatment and gastrostomy. He is in stable condition by now. Totally 23 cases of ALS with PSP were reviewed, and found that the clinical manifestations were related to the main distribution of pathological inclusion bodies and the location of neuron loss, and the deposition of the same pathological protein in multiple systems may lead to the coexistence of different neurodegenerative diseases. Traditional treatment is generally ineffective, thus support treatment is pivotal. The genetic background and pathogenesis of this comorbidity should be studied in the future.
摘要
For lack of cognitive screening standard system and controversy over the value of imaging for cerebrovascular diseases in China, the research group of Alzheimer′s Disease Chinese (ADC) studied the knowledge of neuropsychology, neuroimaging and clinical neurology, systematically reviewed the diagnostic techniques such as memory, language, visuospatial, executive, function, and magnetic resonance imaging (MRI) of cerebrovascular diseases, and their optimal threshold and diagnostic value for vascular dementia. Via a consensus meeting, the diagnostic guidelines and practical screening process are combined to construct a framework in Chinese population, which is based on the objective evidence of medical history and clinical evaluation. The diagnosis of vascular dementia is supported by imaging evidence of cerebrovascular diseases and differentiates from other causes of dementia or comorbidities. This consensus is applicable to medical units in China, and is of great significance for early detection, early diagnosis and early treatment of vascular dementia.
摘要
Criteria for diagnosis of Alzheimer's disease (AD) is not available in China.The international criteria is not a proper choice due to issues such as translation and lead to low diagnostic rate and high rate of missed diagnosis.The research group of Alzheimer's Disease Chinese (ADC) reviewed knowledge and techniques in neuropsychology,neuroimaging,molecular biology,and clinical neurology,and systematically studied the detection techniques such as memory,language,visuospatial,executive function,and medial temporal lobe visual scores on MRI,and their optimal threshold and diagnostic value for the diagnosis of AD.Through a systematic review and consensus meeting,a diagnostic framework for screeningAD in the Chinese population was established.Among these methods,an operational standard for clinical pathology models increased the diagnostic sensitivity by 15％.The sensitivity and specificity of screening memory impairment increased by 18.1％ and 11.6％,respectively.The sensitivity of screening medialtemporal lobe atrophy increased by 24.5％ and missed diagnosis was decreased by 34.5％.An operational standard for clinical biology models,incorporating the latest molecular imaging and molecular biology techniques,has enabled the early diagnosis of AD in China.The framework combines a principled diagnostic guideline with an operational screening protocol,which is applicable to all clinical settings and of great significance for the early detection,early diagnosis and early treatment of AD.
摘要
Objective To investigate the relationship of motor unit number estimation(MUNE)by multiple point stimulation with the outcome of surgical treatment patients with Hirayama disease(HD).Methods A total of 36 consecutive patients including unilateral in 26 cases and bilateral in 10 cases with Hirayama disease treated by anterior cervical discectomy decompression and fusion in Peking University Third Hospital from October 2007 to May 2015 were reviewed retrospectively.There were 35 males and 1 female,aged from 16-26 years(average,19.2 years).A total of 46 hands were enrolled.Odom criteria was used to evaluate the subjective outcome of surgical treatment.Multiple point stimulating technique was used to estimate the motor unit number of abductor pollicis brevis and abductor digitiminimi preoperatively and at the time of pre-operation and the latest follow-up.Hands were divided into two groups based on Odom criteria(Group A with excellent and good;Group B with fair and poor).The difference between the two groups were examined by t text.Results A total of 46 hands with complete clinical and electrophysiology data were followed up for 12-96 months(average,28.2 months).The outcome at the final follow-up according to Odom criteria was:Excellent in 8 cases,Good in 18 cases,Fair in 20 cases and no Poor case.MUNE of abductor pollicis brevis increased significantly after surgery from 139.6±68.4 to 188.2±60.4(t=-5.86,P<0.001).MUNE of abductor digitiminimi increased significantly after surgery from 75.0±66.3 to 104.2±80.4 significantly(t=-3.86,P<0.001).For two groups in age,follow-up period,preoperative MUNE of abductor pollicis brevis,and preoperative abductor digitiminimi,there was no significant difference.The illness course of Group A was 24.0±11.3 months,which was significantly shorter than Group B 34.9±21.2 months(t=-4.452,P<0.01).Group A had more increased MUNE of abductor pollicis brevis 65.6±64.1 compared with Group B 26.7±34.7(t=2.446,P<0.05)and Group A had more increased MUNE of abductor digitiminimi 42.6±59.3 compared with Group B 11.8±32.4 after surgery(t=2.088,P<0.05).Conclusion MUNE by multiple point stimulating technique could be used to evaluate the neurological function of Hirayama disease and the outcome of surgical treatment quantitatively.