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{L-End}Objective To investigate the influencing factors of work-related musculoskeletal disorders (WMSDs) that affect neck-shoulder-back among manufacturing workers. {L-End}Methods A total of 8 250 front-line workers from 27 manufacturing enterprises in Henan Province and Hubei Province were selected as the research subjects using cluster sampling method. The Musculoskeletal Disorders Questionnaire was used to investigate the prevalence of neck-shoulder-back (include neck, shoulder, upper back, and lower back) WMSDs in the past year. The log-binomial model, principal component analysis (PCA) and multivariate logistic regression analysis were used to analyze the influencing factors of WMSDs in the neck-shoulder-back. {L-End}Results The prevalence of WMSDs was 77.2%. The prevalence of neck-shoulder-back WMSDs was 50.9%. The prevalence ratios of WMSDs were relatively higher among the neck, shoulder, and upper back (all P<0.05). The results of PCA improved logistic regression analysis showed that the influencing factors of neck-shoulder-back WMSDs were individual factors, biomechanical factors, psychosocial factors and environmental factors. In terms of individual factors, the risk of neck-shoulder-back WMSDs was higher in females than in males (P<0.05). With the increase of age, length of service, and education level, the risk of neck-shoulder-back WMSDs increased among manufacturing workers (all P<0.05). The risk of neck-shoulder-back WMSDs of workers in textile, clothing, shoes and hats manufacturing industry was relatively lower than that in the other nine industries (all P<0.05). In terms of the biomechanical factors, spending a lot of effort to operate tools/machines, sitting for a long time at work,bending greatly bending and turning at the same time, neck leaning forward or maintaining this posture for a long time, neck twisting or maintaining this posture for a long time and uncomfortable position resulting in difficulty exerting exertion were all risk factors of neck-shoulder-back WMSDs among manufacturing workers (all P<0.05) Bending slightly for a long time was a protective factor for neck-shoulder-back WMSDs among manufacturing workers (P<0.05). In terms of the psychosocial factors, doing the same work every day, self-determination in resting time between works staff shortage, and frequent overtime work were risk factors for neck-shoulder-back WMSDs among manufacturing workers (all P<0.05). Adequate resting time was a protective factor for neck-shoulder-back WMSDs among manufacturing workers (P<0.01). In terms of environmental factors, working under cold or fluctuating temperature, having nothings to lean on, and soles slipping or falling at work were all risk factors for neck-shoulder-back WMSDs among manufacturing workers (all P<0.05). {L-End}Conclusion Manufacturing workers are prone to suffer from neck-shoulder-back WMSDs. The influencing factors include individual factors, biomechanical factors (force load and static load), psychosocial factors and environmental factors.
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The hand-arm vibration disease due to widespread hand-transmitted vibration operations is difficult to cure and seriously affects the health and quality of life of patients. Focusing on the prevention and control of hand-transmitted vibration and its occupational hazards, advances in occupational health relevant to hand-transmitted vibration were reviewed from the aspects of occupational hazard status, health impact, exposure monitoring, prevention and control of hand-transmitted vibration, as well as health surveillance, diagnosis, and treatment of hand-arm vibration disease. In addition, further suggestions on prevention and control of occupational hazards related with hand-transmitted vibration were prospected.
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Background Hand-transmitted vibration is one of the most common occupational hazards and is closely related to symptoms of fingertip terminal nerve damage. Objective To analyze the effects of hand-transmitted vibration on the terminal nerve of fingertips. Methods We systematically searched literature about the effects of hand-transmitted vibration on fingertip terminal nerve at home and abroad. The outcome index was the number (rate) of fingertip terminal nerve symptoms reported by the vibration group and the control group, such as finger numbness and finger tingling, and the search period was from database inception to December 2021. The quality of cross-sectional studies was assessed using the criteria recommended by the Agency for Healthcare Research and Quality (AHRQ), and the quality of cohort studies was assessed by the Newcastle-Ottawa Scale (NOS). NoteExpress 3.2 was used for literature management, and Excel 2003 was used for data collection and extraction. RevMan 5.4.1 software was used for statistical analysis, and random effect model was used to calculate the OR value of pooled effects and to draw forest plots. Subgroup analysis was carried out according to the working years with vibration exposure. At the same time, sensitivity analysis was performed after excluding studies with the largest weight and funnel plots were generated to evaluate publication bias. Results A total of 3619 articles were retrieved, and 39 articles were finally included, including 29 Chinese articles and 10 English articles; 36 cross-sectional studies and 3 cohort studies. In total, 8399 subjects were studied, including 5673 cases in the vibration exposure group and 2726 cases in the control group. Random effect model was used to merge the included literature. The results of meta-analysis showed that compared with the control group, hand-transmitted vibration was significantly associated with the self-reported occurrence of finger numbness (OR=8.29, 95%CI: 5.43-12.66), finger tingling (OR=7.50, 95%CI: 4.78-11.77), finger swelling (OR=8.25, 95%CI: 4.06-16.76), finger stiffness (OR=10.71, 95%CI: 3.60-31.87), finger trembling (OR=5.11, 95%CI: 2.60-10.04), hand weakness (OR=11.05, 95%CI: 3.98-30.68), hand sweating (OR=2.70, 95%CI: 1.64-4.43), hand coldness (OR=3.54, 95%CI: 2.42-5.18) (P<0.01). The subgroup analysis showed that the odds ratios of both finger numbness and finger tingling increased in the early and middle stages of vibration exposure (<5 years and 5-10 years of exposure duration）(finger numbness: OR=11.11, 19.07; finger tingling: OR=4.70, 16.55, respectively)(P<0.01), and decreased in the late stage of vibration exposure (10-15 years and ≥15 years of exposure duration) (finger numbness: OR=9.57, 2.30; finger tingling: OR=5.71, 6.00, respectively) (P<0.01). The results of sensitivity analysis showed a stable pooled effect (OR=13.96, 95%CI: 4.85-40.13, Z=4.89, P<0.01). The funnel plot results showed positive publication bias. Conclusion Occupational exposure to hand-transmitted vibration can cause finger numbness, finger tingling, finger swelling, finger stiffness, finger trembling, hand weakness, hand sweating, and hand coldness.
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Hand-transmitted vibration is one of the most common physical harmful factors in the workplace，and the hand-arm vibration syndrome caused by it lacks effective treatment, and seriously affects the physical and mental health of the involved workers. As an important target for hand-transmitted vibration, the nervous system has attracted increasing attention from scholars, and much progress has been made in recent years in studying the effects of hand-transmitted vibration on nervous system function. Based on related literature at home and abroad, this paper introduced the hand-transmitted vibration-associated damage in peripheral, autonomic, and central nervous systems, and then explored the associated influence factors, like vibration frequency, environment temperature, and individual factors. The potential directions for further research were also proposed.
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Background Work-related musculoskeletal diseases (WMSDs) occur in a variety of occupational populations. Because of their various discomfort and serious disease burden, they have become an important issue worthy of attention in the field of occupational health. The prevention and control of WMSDs is one of the public health problems to be solved. Objective To evaluate the intervention effect on WMSDs among assembly workers in a railway vehicle manufacturing enterprise, so as to provide scientific basis for the prevention and control of WMSDs. Methods A total of 250 assembly workers in a railway vehicle manufacturing enterprise were selected using convenience sampling from August to December 2017. The Chinese Musculoskeletal Questionnaire was used for epidemiological investigation, and the Ergonomic Checkpoints was used for ergonomic inspection and worker interview. According to the above survey results, a six-month intervention plan including stepladder improvement and ergonomics training were implemented in the assembly workshop from September 2018 to February 2019. The intervention effects including the awareness of WMSDs, the exposure level of ergonomic load, and the occurrence of WMSDs symptoms were evaluated with relevant cross-sectional survey results before and after the intervention. The scores of WMSDs symptom intensity, symptom duration, and symptom frequency from low to high were 0-10, 1-4, and 1-5, respectively. Results After the intervention, the awareness rates of assembly workers on WMSDs types, affected body sites, influencing factors, preventive measures, and symptoms all increased from 52.3%, 51.9%, 25.5%, 19.1%, and 51.5% to 68.5%, 61.3%, 48.1%, 40.9%, and 61.3%, respectively (P<0.05). After the intervention, the proportion of assembly workers who "often" bend their head backwards frequently decreased from 34.6% to 21.8%, the proportion who "often" keep their trunk backward for a long time decreased from 26.6% to 15.0%, and the proportion who "never" raise their arms frequently increased from 3.4% to 9.0% (P<0.05). After the intervention, the scores of WMSDs symptom intensity in neck, shoulders, upper back, low back, elbows, hands/wrists, hips/thighs, knees, and ankles/feet all decreased, and the medians were mostly decreased from 6 to 3 (P<0.05); the scores of WMSDs symptom duration only decreased in neck (P<0.05) and there was no significant difference in the other body sites before and after the intervention; the median scores of WMSDs symptom frequency in low back, hands/wrists, and hips/thighs decreased from 3 to 2 (P<0.05). Conclusion The six-month intervention of stepladder improvement and ergonomics training among assembly workers in a railway vehicle manufacturing enterprise can improve workers' awareness of WMSDs, and reduce the exposure frequency of awkward postures and the intensity, duration, and frequency of WMSDs symptoms.
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OBJECTIVE: To investigate the prevalence of lower extremity work-related musculoskeletal disorders(WMSDs) among manufacturing workers, and to explore the association of lower extremity WMSDs and different types of working. METHODS: A total of 7 908 workers were selected as study subjects from four manufacturing factories in China using the cluster sampling method. The Musculoskeletal Disorders Investigating Questionnaire was adopted to investigate the prevalence of lower extremity WMSDs and the distribution of types of working. The prevalence ratio(PR) of WMSDs, calculated by log-binomial model, was used to estimate the correlation of WMSDs in different parts of lower extremity. The multi-factor logistic regression was used to analyze the association of lower extremity WMSDs and different types of working. RESULTS: The total annual prevalence of lower extremity WMSDs was 41.0%(3 241/7 908) among manufacturing workers. The annual prevalence of WMSDs of different parts in lower extremity from high to low were knee(29.5%), ankle/foot(23.9%) and hip/thigh(16.7%). The correlation of WMSDs of the three parts in lower extremity was close, and the range of PR values was 2.21-3.88. The result of logistic regression analysis showed that the workers who frequently sat for long periods had higher risk of lower extremity WMSDs than those who never/rarely sat for long periods(odds ratio=1.39, P<0.01). The higher the frequency of standing, kneeling/squatting for long periods, carrying heavy loads ≥5 kg and driving, the higher the risk of lower extremity WMSDs(the odds ratios were 1.33, 1.41, 1.16 and 1.12, respectively, P<0.01). CONCLUSION: The prevalence of lower extremity WMSDs was relatively high among manufacturing workers. There is a dose-effect relationship between the types of working and lower extremity WMSDs.
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Objective:To summarize the abnormalities in brain magnetic resonance imaging (MRI) and clinical manifestations of children with infantile spasms (IS) in the course of Vigabatrin (VGB) treatment.Methods:The imaging features of children with IS who took VGB orally and presented with brain MRI changes in Peking University First Hospital between September 2016 and June 2018 were analyzed retrospectively.Their use of VGB and the imaging findings were followed up.Meanwhile, the imaging and clinical features of 83 cases described in literature were summarized.Results:(1) Ten children diagnosed as IS were included.The average duration of VGB treatment at the time of imaging changes was 4.1 months, the average age was 11.8 months, and the average maximum dose was 90.6 mg/(kg·d). Brain MRI showed hyperintensities in bilateral thalamus, brainstem, basal ganglia and dentate nucleus diffusion-weight imaging (DWI), with or without T2WI, and T2 fluid attenuated inversion recovery(FLAIR) or slight hyperintensities.Brain MRI repeated in 5 patients 7-12 months later revealed that the original abnormal signals completely disappeared.Among them, 4 patients stopped using VGB and 1 patient continued to take VGB.(2) Literature review: 83 cases with IS treated with VGB from 16 literatures were reviewed, and the incidence of abnormal brain MRI was 22%-32%.The average age at initial VGB treatment was 8.0 months, and the average dose of VGB was 157.1 mg/(kg·d) when the brain MRI abnormalities were found.The MRI imaging showed high DWI signals in bilateral symmetrical thalamus, brainstem, basal ganglia (mainly pallidum) and dentate nucleus.During the follow-up of the 41 cases, no imaging abnormality was observed in 36 cases, improvement in 4 cases, and no significant change in 1 case.When MRI abnormalities were identified, 12.0%(10/83 cases) of the patients presented new clinical symptoms mainly in the extrapyramidal system, and the clinical symptoms of all children disappeared during the follow-up.Conclusions:During the course of VGB treatment of infantile spasms, brain MRI may suggest hyperintensities of DWI in the thalamus, brainstem, basal ganglia and dentate nucleus, but most are reversible.
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OBJECTIVE: To compile the Chinese Musculoskeletal Questionnaire(CMQ) and test its reliability and validity. METHODS: The initial CMQ was formed through studying literatures, interviewing professional workers who have work-related musculoskeletal disorders(WMSDs) and investigation with occupational health and ergonomics experts. Then, 436 and 443 manufacturing workers were selected as prediction and verification samples respectively by convensence sampling method. The reliability and validity of the CMQ were tested by item analysis, exploratory factor analysis and confirmatory factor analysis. RESULTS: i) The CMQ composed of 48 items with item analysis. ii) Nine common factors of CMQ were extracted using exploratory factor analysis, which explained 70.721% of WMSDs variance. iii) The results of confirmatory factor analysis showed that the ratio of chi-square to degree of freedom was 3.380, the comparative fit index was 0.781, the Tucker-Lewis index was 0.764, the root mean square error of approximation was 0.073, and the standardized root mean square residual was 0.068. iv) The results showed that the item reliabilities of the 9 common factors of CMQ such as upper and lower limbs posture load, neck posture load, back posture load, job demand, social support, job control, job environment, job system and job facilities were 0.205-0.841, the composite reliabilities were 0.545-0.894, and the convergence efficiencies were 0.377-0.834. The correlation coefficients between the common factors were less than its square root of the convergence validities. CONCLUSION: The CMQ has good reliability and validity, and is a reliable and effective tool for evaluating WMSDs.
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OBJECTIVE: To explore the occurrence pattern of work-related musculoskeletal disorders( WMSDs) in electronic parts processing workers. METHODS: A total of 498 workers from an electronic parts processing factory were selected as study subjects by judgement sampling method. The prevalence of WMSDs in the past 1 year was investigated by using the China Musculoskeletal Questionnaire. The potential category model was used to classify the categories of WMSDs. RESULTS: The incidence of WMSDs in the past 1 year was 46. 8%( 233/498). Among them,the incidence of WMSDs involving only one site was 13. 1%( 65/498),and those involving at least 2 sites were 33. 7%( 168/498). The multi-site WMSDs were about 6-58 times of the single-site WMSDs. According to potential category analysis,the occurrence patterns of WMSDs were divided into three categories: i) cervical and shoulder occurrence group( 135 persons,27. 1%); ii) all parts group( 31 persons,6. 2%); iii) few or no site group( 332 persons,66. 7%). CONCLUSION: The occurrence of multi-site WMSDs in electronic parts processing workers were more common than the single-site. Analysis of potential category can be used to explore the occurrence pattern of WMSDs.
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OBJECTIVE: To analyze the prevalence and influencing factors of multisite work-related musculoskeletal disorders(WMSDs) of workers in a railway vehicle manufacturing enterprise. METHODS: A total of 366 male workers in the assembly and riveting workshop of a railway vehicle manufacturing enterprise were selected as the research subjects using the cluster sampling method. The Chinese Musculoskeletal Questionnaire was used to investigate the prevalence of multiple sites of WMSDs. Multiple logistic regression analysis was used to analyze the influencing factors. RESULTS: The total prevalence of WMSDs was 56.3%(206/366). The prevalence of WMSDs in all parts from high to low was as follows: lower back(35.5%), hand and wrist(27.6%), neck(23.2%), shoulder(21.0%), knee(19.9%), upper back(18.6%), hip and leg(18.0%), ankle/foot(15.8%) and elbow(12.3%)(P<0.01). The total prevalence of multisite WMSDs was 38.0%(139/366). The prevalence of WMSDs in different numbers of parts from high to low was as follows: 6 or more parts(12.0%), 2 parts(10.7%), 3 parts(6.6%), 5 parts(5.5%) and 4 parts(3.3%)(P<0.01). Multiple logistic regression analysis results showed that the overweight and obese workers had higher risk of multi site WMSDs than those with normal body mass index(P<0.05).Those with long-term low heads, frequent bending, long bending of the elbows, and higher frequency of work requirements, and less frequently communicated with the leader had higher risk of multi site WMSDs(P<0.05). CONCLUSION: The prevalence of multisite WMSDs in railway vehicle manufacturing enterprise is relatively high. The influencing factors include individual factors, adverse ergonomic factors and psychosocial factors.
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Objective@#To summarize the clinical features of leukoencephalopathy with vanishing white matter disease (VWM) in children.@*Methods@#A retrospective cohort study was performed on 54 genetically diagnosed VWM patients in Peking University First Hospital from January 2007 to March 2019. Paper registration form and electronic medical record system were used to collect the data,and the children were divided into five groups according to the age of disease onset:<1 year, 1-<2 years, 2-<4 years, 4-<8 years and 8-<18 years respectively. The progression of motor function, episodic aggravation, epileptic seizures, survival time, brain magnetic resonance imaging (MRI) and genotype features were analyzed and compared. Non-parametric test, χ2 test or Fisher′s exact test were used for comparison among groups; Kaplan-Meier survival curve was adopted to delineate the survival status of the children.@*Results@#Fifty-four VWM patients were included in the study, including 34 males and 20 females.The age of disease onset was 2 years and 8 months (ranged from 6 months to 9 years and 7 months). Onset age was less than 1 year in 5 cases; onset age was 1-<2 years in 12 cases; onset age was 2-<4 years in 25 cases; onset age was 4-<8 years, in 10 cases; onset age was 8-<18 years in 2 cases; 94% (51/54) of patients had complaint of motor regression at the first visit; 87% (47/54) of patients suffered from episodic aggravation. Episodic seizures occurred in 43% (23/54) patients. In survivors with disease durations of 1-3 years, in 38% (9/24) patients the disease was classified as grades Ⅳ-Ⅴ by gross motor function classification system (GMFCS). For the onset age 1-<2 years group, 1 patient was classified as GMFCS Ⅳ among 3 survivors with disease durations of 1-3 years. As for the 2-<4 years group, 6 patients were classified as GMFCS Ⅳ-Ⅴ among 15 patients with disease durations of 1-3 years, whereas 1 patient was classified as GMFCS Ⅳ-Ⅴ among 4 patients with disease durations of 1-3 years in the 4-<8 years group. Lesions, liquefaction and diffusion restriction in brain MRI were compared among different groups, and it was revealed that the earlier the age of disease onset was, the more likely the subcortical white matter (frontal lobe P<0.01,temporal and parieto-occipital lobe both P=0.002), internal capsule (anterior limb P<0.01, posterior limb P=0.00) and brain stem (midbrain P=0.001, pons P<0.01) were to be involved. In addition, internal capsule (anterior limb P=0.002, posterior limb P=0.005) and brain stem (midbrain P=0.001, pons P=0.003) showed more diffuse restricted diffusion. Moreover, the subcortical white matter (frontal and parieto-occipital lobe both P<0.01, temporal lobe P=0.005) showed earlier rarefaction. The 1-year and 2-year survival rates of the overall patients were 81% and 75% respectively, while the 15-year survival rate was 45%. EIF2B5 gene variation was the most common, which accounts for 43% (23/54), followed by EIF2B3 (22%, 12/54).@*Conclusions@#The majority of VWM patients complained of motor regression at the first visit, episodic aggravation and epileptic seizures are common in the course. Earlier age at onset is associated with more rapid clinical progression, shorter survival time as well as more extensive lesions, liquefaction and diffusion restriction in brain MRI. The most common variant gene is EIF2B5, followed by EIF2B3.
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OBJECTIVE: To explore the influencing factors of neck work-related musculoskeletal disorders( WMSDs) and their effects in airport porters. METHODS: A total of 413 airport porters were chosen as study subjects using judgment sampling method. Chinese version of Musculoskeletal Questionnaire was used to investigate the prevalence of WMSDs.Then structural equation model was constructed and used to analyze the influencing factors of neck WMSDs. RESULTS: The prevalence of neck WMSDs in airport porters was 37. 3%( 154/413). Postural load,mental workload and length of service had a direct effect on neck WMSDs of porters( path coefficients were 0. 405,0. 166,0. 296,P < 0. 05),and mental workload also had an indirect effect on neck WMSDs through postural load( path coefficient was 0. 103,P < 0. 01).CONCLUSION: Posture load,mental workload and length of service are risk factors of neck WMSDs in airport porters.
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OBJECTIVE: To investigate the correlation of mental workload and prevalence of work-related musculoskeletal disorders musculoskeletal disorders( WMSDs) in railway vehicle manufacturing workers.METHODS: A total of 362 male workers in assembling and welding workshop from a railway vehicle manufacturing enterprise were selected as study subjects by cluster sampling method.The level of mental workload and prevalence of WMSDs were investigated using a revised Subjective Workload Assessment Technique and China Musculoskeletal Questionnaire.RESULTS: The median score of mental workload was 67 and the prevalence rate of WMSDs was 56.9%.The multivariate logistic regression analysis results indicated that the higher the mental workload of railway vehicle manufacturers,the higher their risk for WMSDs after excluding the influence of confounding factors( P < 0.05).Workers in welding work showed a higher risk than those in assembling work( P < 0.01).Workers with fast work rhythm showed higher risk of WMSDs than those with regular working rhythm( P < 0.01).Workers with comfortable working environment and temperature showed lower risk of WMSDs than those with uncomfortable working environment and temperature( P < 0.01).CONCLUSION: The mental workload can increase the risk of WMSDs,with a dose-effect relationship in railway vehicle manufacturing workers.The type of work,work frequency and the temperature in working environment are also influencing factors of WMSDs.
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Objective To analyze the clinical and imaging features of 2 siblings with leukoencephalopathy due to NADH dehydrogenase (ubiquinone)flavoprotein 2 (NDUFV2) gene mutation,in order to better understand and diagnose it earlier.Methods Clinical and follow-up data of the proband and his brother were collected.Clinical features including symptoms,signs and cranial magnetic resonance imaging (MRI) were analyzed,and 2 patients were followed up for a long time.Sanger sequencing,targeted next generation sequencing,and whole exome sequencing were performed to identify potential genetic variations in the 2 patients and their parents.Results (1) Clinical characteristics and follow-up:ages of onset were 4 months and 1 year respectively.Both of the patients presented rapid motor regression hyperinyotonia,positive pathological character.During the follow-up the condition became stable,motor function and cognition improved gradually after cocktail therapy.(2) Brain MRI of the 2 patients showed prominent abnormalities in deep cerebral white matter,presenting T1 hypointense,T2 and fluid attenuated inversion recovery (FLAIR) hyperintense in the periventricular area.FLAIR images revealed that the abnormal white matter was partially rarefied and cavitated.Diffusion weighted images (DWI) showed high signals along the periphery of the involved areas.The follow-up MRI showed the cavitation still existed and even expanded,and DWI showed regional linear or spotty high signals around the original lesions.(3) Novel mutations in NDUFV2 gene,c.467T>A and c.404G>C,were identified in proband and his brother.The former inherited from his father,while the latter inherited from his mother,which was the new mutation not reported in the international.Conclusions The clinical features of the brothers presented subacute leukoencephalopathy with relatively stable or improved outcome.This was distinctive from the phenotypic features reported in 12 cases with hypertrophic cardiomyopathy or Leigh syndrome.The finding expanded the phenotypic spectrum of NDUFV2 mutations.Pathogenic gene of these patients which is the basis of genetic counseling for this family was determined.
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Objective@#To identify the clinical and genetic characteristics in 43 Chinese children diagnosed with type Ⅰ Alexander disease (AxD).@*Method@#Forty-three type Ⅰ AxD cases identified by glial fibrillary acidic protein (GFAP) gene mutations in Peking University First Hospital from 2005 to 2016 were followed up. The data of medical history, physical examination and magnetic resonance imaging (MRI) were collected. All these patients were followed up in December 2010, Febury 2012, June 2014 and January 2016, respectively.@*Result@#Forty-three patients were genetically confirmed as type I AxD and the median age at the last visit was 11.71 years (10.27, 13.15). The characteristic clinical manifestations of these type Ⅰ AxD patients were developmental delay (79%, 34/43), seizures (86%, 37/43), macrocephaly (the median percentile of head circumference is 90%), and paroxysmal deterioration (27%, 13/43). All the 43 patients′ brain MRI satisfied typical MRI features proposed by van der Knaap. According to the analysis of the long-term follow-up, patients with type Ⅰ AxD began to have obvious regression in motor function after 7 years of age, and the social life ability was milally impaired 8(6, 10)scores at the last follow-up. Seventeen heterozygous missense mutations of GFAP were identified in 43 genetically confirmed patients, and 4 mutations were novel. The mutations in 41 patients (95%, 41/43) were de novo. Three hot spots of mutation in Chinese patients were found: p. Arg239(35%, 15/34), p. Arg79 (26%, 11/43) and p. R88 (16%, 7/43).@*Conclusion@#The characteristic clinical manifestations of type Ⅰ AxD patients are developmental delay, seizures, macrocephaly and paroxysmal deterioration. Moreover, a few patients may present with brain stem symptoms, mental abnormalities, scoliosis or kyphosis. Patients with type Ⅰ AxD may show significant regression in motor function after 7 years of age.
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Objective To analyze the clinical characteristics of 3 unrelated boys with paroxysmal nonkinesigenic dyskinesia and developmental delay caused by de novo mutation in KCNMA1,and to expand the knowledge of clinical phenotype of KCNMA1 mutation.Methods Clinical data of patients were collected,including gender,age,condition of the perinatal period,personal history,and family history.And the features of genotype data were collected including features of attack,developmental milestones,physical examinations,treatments,and responses to treatment.The data including blood biochemical results,results of metabolic screening and genetic testing and the pedigree validation were collected,while the relationship between phenotype and genotype was analyzed.Results (1)Phenotypic features:3 unrelated boys were diagnosed.The ages of disease onset were 20 days,7 months and 13 months,respectively.All the patients manifested paroxysmal nonkinesigenic dyskinesia and were characterized by the episodes that occurred during wakefulness,presented with sudden onset of asymmetric limb dystonic posture,sometimes with nystagmus and strabismus,or sudden decrease of voluntary movement of limbs with hypotonia and occasional esotropia and yawning.There was no loss of awareness during attack.No precipitating factors were observed before attacks.The developmental milestones were delayed.Three children had no response to anti-epilepsy drug before diagnosis.After diagnosis,2 cases used Clonazepam and 1 case showed less attack.There was not any epileptic seizure until the last follow-up at the ages of 3 years and 6 months old,7 years old,and 5 years and 8 months old,respectively.The frequency of attacks was decreased.The episodes were recorded during video-electroencephalogram(EEG) monitoring,which showed normal ictal and interictal EEG.(2)Genotypic features:all 3 children were detected to have KCNMA1 genetic heterozygous missense mutation,while c.2650G>A (p.Glu884Lys) mutation was identified in 1 patient,and c.3158A>G(p.Asn1053Ser)mutation in the other 2 patients,but no such mutation was found in their parents.Conclusion This finding expands the phenotype of KCNMA1mutation.KCNMA1 should be considered as one of the candidate genes for screening in patients with early onset of paroxysmal nonkinesigenic dyskinesia without triggers,or early-onset of developmental delay,with or without epilepsy.
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Objective@#To explore the phenotypic and genotypic characteristics in Chinese children with classic pantothenate kinase-associated neurodegeneration (PKAN).@*Method@#The clinical, radiographic and genetic data of all PKAN patients diagnosed at pediatric department of Peking University First Hospital from November 2006 to December 2016 were retrospectively collected and analyzed.@*Result@#Twenty patients with classic PKAN were included in the study. The median age at onset was 3.5 years (ranging from 1.0 to 10.0 years), and the most common initial symptom was gait disturbance (16 cases). At the last evaluation, the clinical features were limbs dystonia (20 cases), dysarthria (16 cases), dysphagia (11 cases), pyramidal sign (7 cases), mental regression (3 cases) and pigmentary retinopathy (5 cases). For those classic PKAN patients, the median time from onset of disease to loss of independent ambulation was 6.9 years (ranging from 2.0 to 12.0 years). Imaging data showed, except "eye of tiger" in MRI (19 cases), globus pallidus calcification in CT was also found in four patients. In gene testing, 26 different mutations in PANK2 gene were identified, and 16 of 26 were novel mutations. Moreover, c. 1502T>C (p.Ile501Asn) was the most common mutation (4 cases).@*Conclusion@#Dystonia is the major neurologic feature of classic PKAN. Disease progression is rapid, with loss of independent ambulation within 10 years after onset. Except "eye of tiger" in MRI, globus pallidus calcification in CT may be another imaging feature of PKAN.Sixteen novel mutations of PANK2 gene were identified in the study.
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Objective To analyze the clinical and MRI features of patients with type Ⅱ Alexander disease (AxD) in order to better understand and diagnose it earlier.Methods Four type Ⅱ AxD patients identified by glial fibrillary acidic protein gene mutations from Peking University First Hospital and 128 type Ⅱ AxD cases from published literatures were collected,and the clinical and MRI features were summarized.Results (1) In 4 type Ⅱ AxD patients,2 adult patients showed abnormal MRI features without clinical manifestation.The other 2 children patients both manifested motor dysfunction of lower limbs,pyramidal signs,paroxysmal deterioration,and seizures during the course of disease,while 1 of them had bulbar paralysis.The MRI of all the cases was abnormal,but only 1 case MRI corresponded with typical MRI features of type Ⅱ AxD.In the other 3 cases MRI showed thc atrophy in the medulla and upper spinal cord,or the brainstem lesions and abnormal signal in the periventricular white matter,and abnormal basal ganglia region.(2) In 128 reported type Ⅱ AxD cases,the age of onset was (32±19) years old.The initial syndromes mainly contained bulbar and/or pseudobulbar paralysis (32.48％,38/117 cases),motor dysfunction of the lower limbs (31.62％,37/117 cases) and autonomic nerve dysfunction (13.67％,16/117 cases).During the course of the disease,the clinical manifestation showed bulbar and/or pseudobulbar paralysis (73.50％,86/117 cases),pyramidal signs (60.68％,71/117 cases) and ataxia (51.28％,60/117 cases).The MRI of all cases was characterized by atrophy or abnormal signals in the brainstem,especially in medulla oblongata,and spinal cord.And abnormal signals in the cerebellar dentate nuclei,white matter,basal ganglia and thalamus were also commonly shown in the MRI.Conclusions The patients with type Ⅱ AxD are late-onsct.The clinical manifestation mainly contains bulbar and/or pseudobulbar paralysis,motor dysfunction of the lower limbs and pyramidal signs.The MRI is characterized by atrophy or abnormal signals in the brainstem (especially in medulla oblongata) and spinal cord.
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Objective To analyze the clinical and imaging characteristics of congenital sensorineural hearing loss (CSNHL)children combined with white matter (WM)lesions in order to provide evidence for clinical practice. Methods With referral to the Department of Pediatrics,Peking University First Hospital from November 201 1 to De-cember 201 5,documents of 78 patients of CSNHL combined with WMlesions were collected and analyzed for the clini-cal and imaging characteristics.Results Bilateral severe -profound hearing loss existed in all 78 cases,48.1 %(25 /52 cases)of the patients exhibited gross motor development delay,98.1 %(51 /52 cases)of them had normal cognition development.One hundred percent (61 /61 cases)of patients had abnormal language development.Infection occurring during pregnancy existed in 21 .2%(1 1 /52 cases)of the patients,the premature and smaller for the gestational age in-fants accounted for 28.9% (1 5 /52 cases).The bilateral multiple WMlesions from the brain MRI were in dot to flake sizes with sharp boundary,the intensity of T1 -weighted imaging decreased,T2 -weighted imaging and fluid attenuated inversion recovery increased.Eighty -two point one percent (64 /78 cases)of the patients were found to have the periventricular and subcortical WM involvement.The most frequently affected periventricular region was the posterior horn (91 .9%,68 /74 cases),followed by the anterior horn and temporal horn,and the least with the body involvement. The former three had a combined lesion tendency (55.4% -68.9%).There was an extensive involvement in the sub-cortical WMof parietal,frontal,temporal and occipital lobes respectively(73.5% -88.2%).Subcortical WM involve-ment of multiple lobes was common (accounted for 67.6% -77.9%).The enlargement of bilateral ventricles existed in 37.2%(29 /78 cases)of the patients and cystic changes in the subcortical WM of anterior temporal lobe could be found in 9.0% (7 /78 cases)patients.Calcification in 2 CT cases was reported.Corpus callosum and basal ganglia of all cases were normal.For cases with MRI scans more than once,WMlesions of 96.0%(24 /25 cases)patients became silent or self -restored.Conclusions The clinical presentations of CSNHL combined with WM lesions are mild,not paralleled with their multiple foci.It is considered as demyelination or a delay of myelination.Due to its benign course, it is probably not the contraindication for the cochlear implantation.
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Objective To summarize the phenotypic features of an unrecognized leukoencephalopathy in infants sharing same clinical features,and to better understand the disease and provide new evidence for identification of new leukoencephalopathy. Methods Clinical and follow-up data of 13 patients with unrecognized infantile leukoen-cephalopathy were collected from Peking University First Hospital from January, 2006 to December, 2014. Results (1) There were 7 male and 6 female. The average age of onset was 11 months (4-25 months). Thirty-eight percent (5/13 cases) of patients had incentives before the onset;all of the cases had acute onset and rapid motor function regression. Fifteen percent (2/13 cases) of the patients suffered from seizures in the course of the disease. Patients′condition became stable,and cognition and motor function improved gradually 1 month after onset. No patient died till the last follow-up. (2) Imaging features:magnetic resonance imaging (MRI) of the patients was characterized by im-plicating deep white matter,presenting T1 hypointense,T2 and fluid attenuated inversion recovery ( FLAIR) hyperin-tense in the periventricular area. All of MRI showed massive and symmetric lesions with heterogeneous signal and cystic degeneration. DWI showed patch or massive hyperintense in some of the lesions. The follow-up MRI showed the original lesions decreased in 88% ( 8/9 cases ) of patients, and white matters atrophied in 55% ( 5/9 cases ) of patients;the cystic degeneration still existed and even expanded;DWI showed regional linear or spot hyperintense in 88% (8/9 cases) of patients,which was smaller than before,and distributed around the original lesions. Conclusions The patients with leukoencephalopathy caused by unknown pathogenic gene were much likely to be mitochondrial leukoencephalopathy. This study provided evidence for further exploration of new pathogenic genes causing leu-koence-phalopathy.