Objective To explore the electrophysiological charaterstics of upper extremities nerves on the patients with Hirayama disease (HD),amyotrophic lateral sclerosis (ALS),and distal cervical spondylotic amyotrophy (DCSA).Methods The data of electrophysiological examination of the upper limbs of 87 patients with HD,83 with ALS and 28 with DCSA were reviewed retrospectively.Seventy-two patients with HD among 87 had unilateral upper limb's amyotrophy and the other 15 ones had bilateral amyotrophy.There were 30 patients had unilater upper limb's amyotrophy and 53 ones had bilateral amyotrophy from the group of patients with ALS; 20 patients with DSCA were affected unilaterally and 8 ones were bilaterally affected.Results Compound muscle action potential (CMAP) evoked by ulnar stimulation had a lower ampititude compared with that evoked by median stimulation in HD patients.In ALS cases that was just the opposite.However,the CMAPs were similar in DCSA cases.The mean ratio of CMAP amplitude by ulnar stimulation to by median stimulation was 0.58±0.40 in HD group; 2.28±1.25 in ALS and 1.31±0.63 in DCSA.The differences in the three groups were statistical significance.The U/M CMAP ratio was less than 0.6in 62 patients with HD,3 with ALS and 1 with DCSA,and more than 1.7 in 73 cases (57 ALS,12 HD and 4 DCSA).Conduction velocities (CV) of the sensory and motor nerves,the amplitude of the sensory nerve action potential in bilateral limbs,and the CMAP amplitude of the unaffected limb were normal in all cases.Conclusion This study could concluded that the severity of amyotropy in hypothenar mucles were higher than that in thenal muscles in patients with HD; there was just opposite in ALS cases and similar in DSCA.

OBJECTIVETo identify whether there is significant changes between the cervical neutral F-waves and cervical flexion F-waves in the patients with Hirayama disease.

METHODSThis study was performed on 25 normal subjects and 22 male patients with identified Hirayama disease (age: 15 to 44 years; height: 165 to 183 cm; duration: 6 to 240 months) between May 2010 and March 2014. Both cervical flexion F-wave (cervical flexion 45 °, 30 minutes) and conventional F-waves to median nerve stimulation and to ulnar nerve stimulation were performed in all subjects bilaterally.

RESULTSwere analyzed by t-test or Fisher exact probability.

RESULTSIn the normal subjects, all measurements of the bilateral F-waves didn't have any difference between the cervical flexion position and the cervical neutral position. On the cervical neutral position, the persistence (t = 5.209, P = 0.000), average latencies (t = 4.731, P = 0.022) and minimal latencies (t = 23.843, P = 0.006) of ulnar F-wave on the symptomatic heavier side from the patients with identified Hirayama disease were significantly lower or longer than those from the normal subjects, and the repeat F-waves were found in 3 patients (13.6%). On the symptomatic lighter side, the ulnar F-waves only had lower persistence (t = 22.306, P = 0.001) along with 5 repeat F-waves. Only lower persistence were found in the median F-wave on the both side (higher side t = 23.696, P = 0.000; lighter side t = 23.998, P = 0.000), along with 5 (22.7%) repeat F-waves on the symptomatic heavier side and 6 (27.3%) ones on the symptomatic lighter side. After cervical flexion maintaining 30 minutes, the increased maximal amplitudes (t = -2.552, P = 0.019), average amplitudes (t = -3.322, P = 0.003), duration (t = -3.323, P = 0.00), persistence (t = -2.604, P = 0.017) and frequency of repeat F-waves (9/22, 41%) (P = 0.044) were found on the symptomatic heavier side of ulnar F-wave, and 5 of 10 absent ulnar F-wave on the cervical neutral position were also recover. The median F-wave on the symptomatic heavier side mainly had increased maximal amplitude (t = -3.847, P = 0.001), average amplitudes (t = -2.188, P = 0.040) and persistence (t = -2.421, P = 0.025), and 1 of 6 absent median F-wave on the cervical neutral position were also recover after cervical flexion.

CONCLUSIONThe cervical flexion F-waves have significant regular changes compared to the cervical neutral F-waves in patients with Hirayama diseases, especially maximal and average amplitudes of F-waves.

Adolescent ; Adult ; Humans ; Male ; Neck ; Range of Motion, Articular ; Spinal Muscular Atrophies of Childhood ; physiopathology ; Ulnar Nerve ; Young Adult

Objective To explore the role of S1 root stimulation H-reflex in evaluating the efficacy of lumbar disc hernia-tion (LDH). Methods 95 LDH patients (55 males, 40 females) who had underwent discectomy for the lumber herniated discs were recruited in this research from January 2014 to January 2016. The average was (40.5±6.7) years, ranged 17-60 years. The vi-sual analogue scale (VAS) scores and the MOS item short from health survey (SF-36) scale was evaluated in preoperative, day 7, 3 month and 1 year after operation, respectively. Meanwhile, the S1 H-reflex and routine H-reflex were taken before operation and 1 year of postoperation. Results The subjects were divided into two groups according to the results of the preoperative S1 H-reflex:①60 patients with S1 present group, the H-M interval was significantly longer (8.1±1.2) ms, 47 of those with routine H-reflex and the latency was prolonged (31.8 ± 2.5) ms, 13 of those with absent routine H-reflex. 32 among 60 patients H-M interval was short-en before operation (7.8 ± 1.0) ms in 1 year follow-up, and there was statistically significant (P=0.001);the latency of conventional H-reflex was shorter than that of preoperation (28.5 ± 2.3) ms in 20 patients, there was statistical difference (P=0.023);the H-re-flexes were detected in the 6 patients from that 13 with absent routine H-reflex.②35 patients absent group, of which 30 cases of conventional H reflex disappeared, only 5 had normal routine H-reflex and the latency was prolonged (31.2 ± 3.0) ms. There were no H-wave patterns detected in 18 patients with H-reflexed one year later, and there was no significant difference in the H-reflex latency (31.0 ± 3.1) ms. All patient's VAS scores and SF-36 were significantly improved from preoperation to postoperation. Both scores were no difference between two groups in 7 d of post surgery. The mean VAS score of two groups: 3 months (1.7 ± 1.0) points, (2.1 ± 1.2) points (t=2.618, P=0.010), and 1 year (1.3 ± 0.9) points, (1.8 ± 1.1)( t=3.311, P=0.002). SF-36 in two groups:3 months (28.9 ± 5.6) points, (33.2 ± 5.5) points ( t=-2.670, P=0.008), 1 year (23.2 ± 6.2), (30.2 ± 5.6) (t=-3.012, P=0.001). Conclusion The patients with LDH had detected S1 H-reflex before surgery which indicated the minor leisure in intravertebral nerves, so that nerve can get better recovery and functional score of postoperation, it could objectively evaluate the efficacy of LDH surgery.

Objective　To establish Huashan diagnostic criteria and clinical classification system for Hirayama disease.Methods　Retrospective analysis 359 cases of puberty onset,upper extremity muscle atrophy as main clinical manifestations,and complete clinical data from September 2007 to August 2018.There were 348 males and 11 females(31.6:1 male and female)in this group.The average age of onset was 16.7±2.2 years,the average age of visits was 19.2±4.5 years,and the average duration of treatment was 29.3±45.4 months.Descriptive study of the clinical manifestations,radiologic and neurophysiological findings of this group of patients,the Huashan clinical diagnostic criteria of Hirayama disease were established by including 100% of the clinical manifestations,imaging and neurophysiological findings.According to the following parameters,the clinical classification system of Hirayama disease was proposed.The parameters specifically included:the muscle atrophy involves the upper limbs,whether the quadriplegia was active or hyperactive,the Babinski sign positive and other pyramidal tract damage,whether it was accompanied by sensory dysfunction such as upper limb numbness,muscle atrophy location,and the progress of clinical symptoms or electrophysiological examination within 6 months.Thirty patients were randomly selected from the above 359 cases.Four orthopedic surgeons who were not involved in the classification system completed the clinical classification within the specified time.The Kappa value was used for the credibility evaluation.Results　The Huashan diagnostic criteria of Hirayama disease included clinical manifestations,imaging examinations and neurophysiological examinations.The main diagnostic indicators were:1)occult onset puberty,more common in men;2)localized muscle atrophy and weakness in the upper extremities;3)compared with the cervical neutral MRI,the MRI of cervical flexion showed that spinal cord was significantly shift forward and the anterior spinal cord was narrowed or disappeared.4)MRI T2 weighting of the cervical flexion showed cyst-wall separation behind the spinal cord;5)Neurophysiological examination showed that the affected muscles were neurogenic damage.6)The affected parts are limited to the middle and lower neck segment.At the same time,it was necessary to combine imaging and neurophysiological manifestations to distinguish cervical spondylosis with upper limb muscle atrophy and motor neuron disease.According to the clinical characteristics of different patients,Hirayama disease can be divided into type I-III.Type I:72.1%,one-sided upper limb or one upper limb-based hand inner muscle and forearm muscle atrophy.According to whether progress of symptoms or electrophysiological examination was seen in the past 6 months,type I can be divided into:Ia.stable period.Regular follow-up assessment was recommended.If the disease progressed,to wear a cervical collar was suggested;surgery could be done if necessary;Ib.progression period,it was recommended to use a cervical collar,and regularly evaluate,if patients could not wear cervical collar for long,it was recommended to operate.Type II:14.2%,unilateral upper limb or one upper limb-based hand inner muscle and forearm muscle atrophy with pyramidal tract injury.Surgery was recommended.Type II:13.7%,atypical Hirayama disease,including upper limb proximal muscle atrophy,symmetrical double upper limb muscle atrophy,and sensory disturbances associated with upper limb numbness.Wear a cervical collar,and follow-up and assess closely,and choose surgical treatment if necessary.The credibility evaluation showed that the average Kappa value of the classification was 0.732(0.688-0.834),which is a basic credibility.Conclusion　The Huashan diagnostic criteria of Hirayama disease was conducive to the early diagnosis.The clinical classification system of Hirayama disease has good credibility and good clinical intervention guidance value.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a consanguineous Chinese pedigree affected with Congenital coagulation factor XII (XII) deficiency. METHODS: Members of the pedigree who had visited Ruian People's Hospital on July 12, 2021 were selected as the study subjects. Clinical data of the pedigree were reviewed. Peripheral venous blood samples were taken from the subjects. Blood coagulation index and genetic testing were carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: This pedigree has comprised 6 individuals from 3 generations, including the proband, his father, mother, wife, sister and son. The proband was a 51-year-old male with kidney stones. Blood coagulation test showed that his activated partial thromboplastin time (APTT) was significantly prolonged, whilst the FXII activity (FXII:C) and FXII antigen (FXII:Ag) were extremely reduced. The FXII:C and FXII:Ag of proband's father, mother, sister and son have all reduced to about half of the lower limit of reference range. Genetic testing revealed that the proband has harbored homozygous missense variant of c.1A>G (p.Arg2Tyr) of the start codon in exon 1 of the F12 gene. Sanger sequencing confirmed that his father, mother, sister and son were all heterozygous for the variant, whilst his wife was of the wild type. By bioinformatic analysis, the variant has not been included in the HGMD database. Prediction with SIFT online software suggested the variant is harmful. Simulation with Swiss-Pbd Viewer v4.0.1 software suggested that the variant has a great impact on the structure of FXII protein. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic. CONCLUSION The c.1A>G (p.Arg2Tyr) variant of the F12 gene probably underlay the Congenital FXII deficiency in this pedigree. Above finding has further expanded the spectrum of F12 gene variants and provided a reference for clinical diagnosis and genetic counseling for this pedigree.
Male ; Female ; Humans ; Middle Aged ; Factor XII/genetics* ; Pedigree ; Codon, Initiator ; East Asian People ; Mothers ; Factor XII Deficiency/genetics* ; Mutation

Objective　To investigate the impact of the loss of attachment on the outcomes in Hirayama disease(HD)patients treated with anterior cervical discectomy and fusion(ACDF).Methods　A total of 26 patients(23 males and 3 females)who were diagnosed as HD and received 2 levels of ACDF surgery from February 2014 to November 2016 were enrolled in the present study.All patients took the MRI at both flexion and neutral position pre-operation and MRI at flexion position post-operation.The measured parameters related to performance of "loss of attachment" include:the distances between the posterior edge of the spinal cord and the cervical spinal canal(x),the anterior and posterior wall of the cervical spinal canal(y),the anterior-posterior(a)and the transverse diameter(b)of spinal cord cross sections.The value of the cervical spinal cord deformation(flexion position a/b)and the cervical spinal cord forward movement(flexion position x/y-neutral position x/y)were calculated,and the centrums refer to the performance of "loss of attachment" were also recorded.DASH scores and grip strength on both sides were recorded before and 1 year after operation.The 26 patients were divided into two groups,17 patients(17/26,65.4%)in improvement group with the decreased DASH scores and the other 9 patients(9/26,34.6%)in no improvement group.Logistic regression and ROC curve were used to analyze the influence factor of anterior cervical discectomy and fusion(ACDF)surgery on patients with Hirayama disease.Results　After surgery,the value of a/b significantly increased(t=4.27,P=0.001)and x/y significantly decreased(t=10.25,P=0.001).The performance of "loss of attachment" in 88.5%(23 of 26)patients disappeared after surgery,while the DASH score(P=0.06),and the grip strength of severe and mild side(P=0.36 and P=0.42)shew no obvious change.65.4%(17 of 26)patients shew a decrease in DASH scores after operation,the remaining 34.6%(9 of 26)patients shew no obvious change,several even with a mild increase.The segments refer to performance of "loss of attachment",the value of the cervical spinal cord de-formation and the cervical spinal cord forward movement shew a difference between the two group(t=-5.56,P=0.001;t=3.06,P=0.005;t=-3.76,P=0.001).The logistics regression analysis with the above three independent variable confirmed that the value of segments that refer to "loss of attachment" was the factor of the post-operative efficacy of ACDF surgery on patients with Hirayama disease(OR=6.963,P=0.001).And the ROC curve shew AUC=0.902,Jordan index=0.83,critical value=4.5.Conclusion　The anterior cervical discectomy and fusion(ACDF)surgery can effectively improve the loss of attachment at the surgical segments,and prevent the progress of upper limb dyskinesia.And range of the longitudinal separation refers to "loss of attachment" can impact the outcomes of ACDF surgery,more segments for fusion may be need in order to improve the outcomes of those patients with the range more than 5 segments.

Objective　To investigate the predictive value of dynamic F wave in the treatment of Hirayama disease(HD)after anterior cervical fusion and internal fixation.Methods　From February 2014 to January 2016,thirty-six patients with HD were included in this study(age:17.9±2.6 years,height:173.1±6.2 cm,disease duration:20.1±13.1 months;male to female ratio:35:1),and all of these 36 patients underwent anterior cervical autogenous iliac fusion and internal fixation.All of these patients underwent bilateral dynamic F-wave detection(The F-wave was tested on the cervical standard position and at least 30 minutes after cervical flexion)on the median nerve before operation and 3-5 days after operation.The latency and maximum amplitude of M-wave,the persistence of F-wave,the shortest latency of F-wave,the ratio of F/M and the persistence of repeated F-wave were measured.Dynamic F-wave abnormalities were defined when repeated F-wave was only found during neck flexion or the standard-flexion difference of each measurements of F-wave was more than 2 standard deviations from the normal value(the shortest latency of F-wave:0.6±0.5 ms,persistence of F-wave:7.3%±5.7%,the ratio of F/M:1.1±1.0).Furthermore,these patients with HD accepted both bilateral grip strength and hand function score(disabilities of arm,shoulder and hand,DASH)before and 1 year after operation.According to the presence of abnormal dynamic F-wave before operation,patients were divided into abnormal dynamic F-wave group and normal dynamic F-wave group.Fisher exact test was used to compare the percentage of the patient with improved DASH score in both patient groups after operation.Both DASH score and bilateral grip strength were analyzed by paired sample t test before and after operation.Results　Before operation,eleven(11/36,30.6%)patients with HD had abnormal dynamic F-wave,and there was no significant difference of age(t=-0.849,P=0.412),duration(t=1.110,P=0.282),DASH scores(t=2.002,P=0.055)and handgrips(more-symptomatic side:t=-0.673,P=0.507;symptomatic side:t=-1.729,P=0.094)between the patients with or without preoperative dynamic F-wave abnormalities.One-year follow-up demonstrated that significantly greater number of the patients presented with reduced DASH scores in the patients with preoperative dynamic F-wave abnormalities(10/11,90.9% vs 12/25,48.0%;P=0.025).Compared with the patients without preoperative dynamic F-wave abnormalities,the patients with preoperative dynamic F-wave abnormalities showed reduced DASH scores after operation(t=2.347,P=0.041).Furthermore,abnormal dynamic F-waves disappeared soon after operation in ten patients(90.9%,10/11)with preoperative dynamic F-wave abnormalities,and DASH scores reduced significantly in these ten patients after operation(4.4±3.8 vs 1.5±0.4,t=3.094,P=0.013),and the DASH score in another patient whose dynamic F wave did not disappear after operation increased significantly one year after operation(preoperative vs.postoperative:6.66 vs 9.87).Conclusion　Dynamic F-wave can be used as a preoperative evaluation method for HD to predict the recovery of upper limb function after operation.At the same time,the comparison of dynamic F-wave before and after operation is an effective and immediate method to evaluate the effectiveness of surgical treatment of HD.

Objective　To investigate the efficacy of neurological injury in patients with Hirayama disease using threshold tracking technique.Methods　This study included 17 patients with Hirayama disease who visited the Department of Orthopaedics of Huashan Hospital from June 2017 to October 2017(patient group,16 males and 1 female,the average age was 18.06±0.50 years,ranging from 16 to 22 years,the average course of disease was 27.2±18.81 months,ranging from 1 to 60 months.Mean-while,a total of 20 healthy volunteers(control group,19 males and 1 female,the average age is 20.05±1.30 years,ranging from 17 to 23 years)were also enrolled in this study.In patient group,the median motor nerve conduction examination,needle EMG examination,and threshold tracking examination were performed on the severe side;while in control group,the median motor nerve conduction examination and threshold tracking examination were performed on either side.We evaluate the changes in peripheral motor nerve conduction of Hirayama disease by comparing CMAP(compound muscle action potential)and median motor nerve conduction velocity evaluate the changes in motor nerve excitability by comparing the rheobase,SDTC(Strength-duration time constant),threshold electrotonus,current-threshold I/V slope,superexcitability,and subexcitability.The upper limb function was assessed by disabilities of arm,shoulder and hand(DASH)score.The differences in threshold tracking parameters between groups were compared by independent t test,and the correlation between SDTC and DASH score was tested by Pearson correlation analysis.Results　In the peripheral motor nerve conduction examination,the median nerve CMAP in patients with Hirayama disease was 4.12±1.43 mV in average,which is lower than healthy controls 8.23±1.61 mV(t=-3.8,P<0.01).There was no significant difference in the peripheral motor nerve conduction velocity(t=-0.86,P=0.39).In the threshold tracking examination,SDTC in patients with Hirayama disease was 0.48±0.09 ms,which was prolonged than healthy controls 0.39±0.06 ms(t=3.75,P<0.01).The absolute values of TEh(10-20)and TEh(20-40)decreased significantly(P<0.01),hence,the hyperpolarized part of the threshold-electrotonus curve showed "fanning-in" pattern.The slope of the current-threshold(I/V)curve had a decreasing trend.The hyper-polarized l/V slope in patients with Hirayama disease was 0.27±0.09 in average,which was lower than the healthy controls which was 0.34±0.07(t=-2.73,P=0.01).The DASH score of patients ranged from 0.86 to 19.44,with an average of 6.99±5.79.There was a correlation between SDTC and DASH score,R2=0.36,which met the F test(P=0.01).Conclusion　Threshold tracking technique can be adapted in evaluating nerve injury in Hirayama disease to determine the degree of injury and potential pathogenesis.