Humans ; Proto-Oncogene Proteins p21(ras)/genetics* ; Prognosis ; Biomarkers, Tumor/genetics* ; Mutation/genetics* ; Colorectal Neoplasms/genetics* ; Proto-Oncogene Proteins B-raf/metabolism*

Autoimmune paranodopathy (APN) has emerged as an independent rare disease,which is medicated by autoimmune antibodies against the essential complex of paranodal region of Ranvier. The antibodies include anti-neurofascin 155 antibody, anti-contactin-1 antibody and anti-contactin-associated protein 1 antibody. Although there are many similarities between APN and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), patients with APN have relatively unique clinical features, pathogenesis, histopathological results and responses to intravenous immune globulin, distinguishing from typical CIDP. The predominant subclass of IgG among pathogenic antibodies is IgG4, meanwhile, other subclasses have been rarely reported. Early detecting the APN related antibodies and their subclasses not only helps to clarify the diagnosis, but also provides valuable clinical information for the selection of precise treatment and prognosis.

Chronic inflammatory demyelinating polyneuropathy (CIDP) with positive anti-contactin-associated protein-1 (Caspr1) antibody is a rare autoimmune antibody mediated peripheral neuropathy. A 62-year-old male patient was reported in this article, whose clinical manifestations were subacute onset, abnormal distal limb motor sensation, and increased cerebrospinal fluid protein level. The patient had a good response to plasma exchange. Electromyography of lower limbs showed that motor involvement was dominant, motor conduction velocity slowed down, compound motor active potential (CMAP) and sensory nerve active potential amplitude decreased, and F wave was not elicited; electromyography of upper limbs without symptoms showed that CMAP amplitude of median nerve decreased, and conduction velocity was normal. There are few reports of anti-Caspr1 positive CIDP in the world. The article summarized the characteristics of the patient and reviewed the relevant literature, in order to improve clinicians′ understanding and diagnosis and treatment ability of the disease.

Anti-contactin-1(CNTN1) IgG4 antibody is a reliable biomarker of a specific subset of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients with distinct clinical features, including advanced age, aggressive symptom, predominantly motor involvement, sensory ataxia, and poor response to intravenous immunoglobulin. Nerve conduction study showed decrease of nerve conduction velocity, reduction of compound motor active potential amplitude without temporal dispersion at early stage of the disease. The article reported an anti-CNTN1 IgG4 antibody positive case, reviewed the current relevant literature, and then summarized the clinical characteristics of anti-CNTN1 IgG4 antibody associated CIDP.

Objective: To evaluate the severity of median nerve damage in patients with carpal tunnel syndrome (CTS) , and to analyze its relationship with body mass index (BMI) and wrist joint index. Methods: From May 2016 to January 2017, 23 patients with mild CTS (mild group) and 35 patients with moderate to severe CTS (moderate to severe group) were enrolled in this study. And 22 healthy volunteers matched for sex and age were selected as control group. The neuroelectrophysiological monitor was used to measure the median nerve movement and sensory nerve conduction in the subjects. The BMI and wrist joint index were calculated. The relationship of neuroelectrophysiological parameters with BMI and wrist joint index was analyzed in the CTS patients. Results: Compared with the control group, the mild group and the moderate to severe group had significantly higher wrist joint index, significantly longer distal motor latency (DML) of the median nerve, and significantly lower sensory nerve conduction velocity (SNCV) and sensory nerve action potential (SNAP) amplitude of the finger 1-wrist and finger 3-wrist (P<0.01) ; the moderate to severe group had significantly higher BMI and significantly lower composite muscle action potential (CMAP) amplitude (P<0.01) . The wrist joint index and BMI were positively correlated with DML of the median nerve and negatively correlated with SCV and SNAP amplitude of the finger 1-wrist and finger 3-wrist (all P<0.05) . The patients with a wrist joint index of >0.73 had a significantly higher risk of CTS than those with a wrist joint index of <0.73 (odd ratio=30.67, 95% confidence interval: 3.79-248.36) . Conclusion A wrist joint index of >0.73 is an independent risk factor for CTS in manual laborers. CTS should be prevented in the manual laborers with high wrist joint index and BMI.

Objective To study the electrophysiological characteristics of hands muscle of upper limb onset amyotrophic lateral sclerosis (UL-ALS), and the variant-flail arm syndrome (FAS) for diagnosis and differential diagnosis. Methods We chose 55 UL-ALS and 12 FAS patients as the cases, 20 cervical spondylotic amyotrophy (CSA) patients as the case controls, and 20 healthy volunteers as the normal controls from January 2013 to March 2018 in the Third Central Hospital of Tianjin. Conventional nerve conduction studies of the median nerve and ulnar nerve were performed in all the patients. The main analysis was done in the compound muscle action potential (CMAP) recorded on the abductor pollicis brevis (APB) and abductor digiti minimi (ADM) and the ratio of the two. Results The ratio of CMAPAPB/CMAPADM of ALS was 0.59 (0.25, 0.79), which was depressed obviously compared with FAS (1.02 (0.92, 1.18), Z=-4.440, P=0.000), CSA (1.88 (1.42, 3.19), Z=-5.902,P=0.000) and the normal controls (0.96 (0.88, 1.15), Z=-5.416, P=0.000). The low ratio of CMAPAPB/CMAPADM (<0.6) was encountered in 40％(23/55) ALS patients, 0 CSA patient and 1/12 FAS patients. An absent APB CMAP and an abnormally low APB/ADM CMAP amplitude ratio (<0.25) were observed only in 25.4％ (14/55) ALS patients. The area under receiver operating characteristic curve in patients of UL-ALS was 0.911 (P=0.000), and in FAS was 0.518 (P=0.559). Using a cut-off value of CMAPAPB/CMAPADM=0.7 for diagnosing ALS yielded 85.5％sensitivity and 95.0％specificity. Conclusion The split hand syndrome is not specific for ALS; however, the low APB/ADM CMAP amplitude ratio may help predict prognosis and can be the diagnostic marker for ALS.

Objective To use nerve conduction study (NCS) to evaluate the function of large fibers,skin sympathetic response (SSR) and contact heat evoked potential (CHEP) to evaluate the function of small fibers in patients with impaired glucose regulation (IGR),and to analyze the occurrence of peripheral neuropathy and damage characteristics.Methods According to the classification criteria of glucose metabolism proposed by WHO in 2006,we selected 120 patients with IGR from January 2015 to December 2016 in our hospital,including 37 impaired fasting glucose (IFG) patients,83 impaired glucose tolerance (IGT) patients,and 60 normal subjects served as control group.All subjects received median,ulnar,tibial,peroneal,sural NCS,SSR and CHEP using the Keypoint.net (Medoc Ltd) electromyogram device.IGR patients were evaluated using the Michigan Neuropathy Screening Instrument (MNSI).Results The abnormal rate of MNSI score in IGR patients was 18.3％ (22/120);the abnormal rate of NCS was 22.5％ (27/120),and the abnormal rate of SSR was 39.2％ (47/120).In IFG group,the abovementioned abnormal rates were 8.1％ (3/37),13.5％ (5/37),29.7％ (11/37) respectively,and 22.9％ (19/83),26.5％ (22/83),43.4％ (36/83) in IGT group.Compared with control group,the tibial,sural nerve sensory nerve action potential amplitude decreased in IGT group (1.3 (0.1,1.9) μV vs 1.4(1.1,3.2) μV,Z=-3.05,P=0.002;(10.5±2.0)μV vs (7.6 ± 1.9)μV,t=0.60,P=0.001);and there was no significant difference between IFG patients and control group.Compared with control group,IFG patients' SSR amplitude reduced in lower limbs (0.7 (0.4,0.8) mV vs 0.8 (0.6,1.0) mV,Z =-2.95,P =0.003),CHEP amplitude decreased in dorsum hand and peroneal area stimuli ((63.0 ±10.0)μV vs(52.4 ±15.3)μV,t=0.61,P=0.003;(44.7 ±12.5)μV vs (28.2 ± 10.6)μV,t=0.31,P =0.000);and in IGR group,SSR amplitude reduced in upper and lower limbs (1.1 (0.5,2.2) mV vs 1.3(0.7,2.6)mV,Z=-2.12,P=0.030;0.4(0.2,0.8)mV vs 0.8(0.6,1.0) mV,Z=-5.96,P=0.000),CHEP amplitude decreased in dorsum hand and peroneal area stimuli ((63.0 ± 10.0) μV vs (38.7± 13.5)μV,t =0.37,P=0.000;(44.7 ±12.5)μV vs(21.9 ± 13.6)μV,t =0.35,P=0.000).Conclusions There is peripheral neuropathy in IGR patients,and the incidence of neuropathy in patients with IGT is higher than those with IFG.Neurophysiological methods are earlier than clinical scores to detect neuropathy.There are only small fiber damages in IFG patients,and IGT patients present by large and small fibrous lesions,mainly in small fibers and lower sensory nerve fibers,characterized by axonal damage and length dependence.

Objectives To study the early effect of treating teenagers with tibial insertion avulsion fracture of anterior cruciate ligament using the single-tibal tunnel,double Endobutton miniature steel plate combined with twin high-strength Ultrabraid Suture suspension fixation under an anthroscopy.Methods Retrospective analysis was conducted on 21 teenagers with tibial insertion avulsion fracture of anterior cruciate ligament treated between May 2012 and June 2015.They were treated using the single-tibal tunnel,double Endonbutton plate combined with twin Ultrabraid Suture suspension system fixation.The X-ray was taken postoperatively at 1 week,1 month,3 months and every 6 months.Anterior drawer and Lachman tests were used to evaluate the postoperative stability of knee joints,while the Lysholm score was recorded to assess the postoperative recovery.Results The average total intraoperative blood loss,operation duration and follow-up time were(53.95 ± 7.10) ml (ranging from 43 to 68 ml),(38.76 ± 7.71)min(ranging between 27 and 55 min),and(21.86 ± 2.78)months,ranging from 18 to 25 months.All fractures were healed without malunion or nonunion as could be seen in the X-ray taken 3 months after the operation.Moreover,none of the patients suffered from complications such as soft tissue infections or extension lag of the knee joints caused by the femoral intercondylar notch impingement syndrome.The Lysholm score of the last follow-up(97.14 ± 1.35)was significantly higher than that before surgery (40.24 ± 5.81).Conclusion The early efficacy of the single-tibal tunnel,double Endonbutton plate combined with twin Ultrabraid Suture suspension system fixation for teenagers with tibial insertion avulsion fracture of anterior cruciate ligament under arthroscopy is satisfactory.

This study retrospectively reviewed 75 patients with impaired glucose tolerance(IGT)admitted in our hospital from March 2015 to October 2015.All patients underwent Toronto clinical scoring system(TCSS) evaluation.Patients with IGT were further divided into normal score group(TCSS-N, n=50)and abnormal score group(TCSS-A, n=25)according to their scoring results, and 30 healthy volunteers were served as control group.All patients and controls underwent motor and sensory nerve conduction studies, as well as sympathetic skin response(SSR)test using the Keypoint.Net(Medoc Ltd)electromyogram device.The results showed that the SSR amplitude of lower limbs was reduced [(0.61±0.44 vs 1.00±0.33)mv, P<0.05]andlatencyoflowerlimbswas extended [(1 880±282 vs 1 642±256)ms, P<0.05]in IGT group compared with control group.But median, ulnar, tibial, and peroneal nerve sensory and motor conduction revealed no difference between two groups.In TCSS-A group, the SSR amplitude of lower limbs was reduced [(0.47±0.39)mv, P<0.05], latency of lower limbs was extended [(2 062±291)ms,P<0.05]and the sensory nerve action potential(SNAP)amplitude of the tibial nerve was significantly lower compared with control group [(1.83±0.37 vs 2.07±0.30)μv, P<0.05].Compared to TCSS-N group, latency of lower limbs was extended [(2 062±291 vs 1 808±246)ms, P<0.05]in TCSS-A group.The SSR amplitude of lower limbs were reduced[(0.66±0.44)mv,P<0.05]and latency were prolonged(P<0.05)in TCSS-N group compared with control group.Pearson correlation analysis showed that the SSR amplitude and latency of the lower limbs were correlated with the postprandial blood glucose, blood glucose fluctuation, body weight, as well as body mass index.These results suggest that there exists peripheral nerve damage in the patients with IGT, mainly involving the small fiber nerve of the lower limbs.Large fibers may also be mildly affected as the disease progresses.

Early diagnosis of prediabetic peripheral neuropathy depends on the evaluation of small fibers.Traditional nerve conduction tests can only evaluate the function of large myelinated fibers,while lack of sensitivity to small fibrous lesions.These lesions were related to pain and autonomic neuropathy.In recent years,with the progress of neurophysiological diagnosis technology,the early diagnosis of diabetic peripheral neuropathy has been improved.Clinical methods,commonly used in the detection of small fibrous lesions,mainly include skin sympathetic response,quantitative sensory test,contact heat pain evoked potential,and quantitative sudomotor axonal reflex test.In this paper,the pathogenesis of diabetic peripheral neuropathy,neurological pathological changes and applications of electrophysiology technology were reviewed to provide an objective basis for early diagnosis of prediabetic peripheral neuropathy.