Objective To explore the clinical and electrophysiological characteristics of diabetic lumbosacral radiculoplexus neuropathy (DLRPN). Methods The clinical, electrophysiological and neuroimaging changes in 15 cases of DLRPN were investigated. Results The major clinical manifestations of 13 cases were unilateral or asymmetrical pain and progressive muscular weakness and atrophy of the proximal lower limb. The nerve conduction studies in affected nerves showed absent or reduced compound muscle action potential amplitudes and sensory responses with proportionate slowing of the conduction velocities. F waves and H reflexes were of long latencies or absent. Electromyography of affected muscles showed positive sharp waves and fibrillation potentials involving lumbar paraspinal muscles. Assessment of the motor unit action potentials (MUAPs) revealed high amplitude, long duration, and polyphasic MUAPs with reduced recruitment 50% cases have much lower R-R interval variation. Conclusions DLRPN presents disabling pain and muscular weakness and elctrophysiological examination has a paramount value in the diagnosis and evaluation of this disease

Objective:To report the clinical, pathological, electrophysiological and genic characteristics of a patient with familial amyloidosis Finnish type.Methods:The clinical characteristic of a 60-year-old female who admitted to Beijing Tiantan Hospital, Capital Medical University in June 2020 was analyzed. Meanwhile, the patient underwent electrophysiological examination, biopsy of labial gland, rectum and skin and gene sequencing analysis.Results:The patient presented left facial paralysis at the age of 50, right facial paralysis and thickening of lips at the age of 55, dysarthria and dysphagia at the age of 56. Physical examination of the patient showed signs of cranial nerves involvement and skin thinning and smoothness. Slit lamp showed corneal lattice dystrophy. Electrophysiological findings of the patient suggested bilateral carpal tunnel syndrome. Latencies were prolonged in bilateral visual evoked potential P100. The deep sensory conduction pathways in bilateral C 7 to biparietal and T 12 to biparietal cortex were abnormal. Pathology of the three biopsies of the patient showed the presence of amyloid deposition in the basement membrane around the glands. The heterozygous mutation of c.654 G>T in exon 4 of gelsolin (GSN) gene in the patient resulted in Asp187 Tyr mutation (p.D187Y). Conclusions:The patient with familial amyloidosis Finnish type was characterized by slowly progressive multiple group cranial neuropathy accompanied by corneal lattice dystrophy and skin changes. Optic nerve and spinal cord posterior funiculus sensory conduction pathway and D187Y mutation of GSN gene were involved.

Objective:To analyze the feasibility of applying transcutaneous electrical nerve stimulator and high-frequency ultrasound in superficial nerve positioning for detection anatomical location in the area of lateral lip of the iliac crest by lateral cutaneous branch of subcostal nerve(LCSN). The significance of using the nerve as a free sensory superficial circumflex iliac artery perforator flap was discussed.Methods:The data of patients who underwent the repair of defects on limbs with free perforator flap or composite flap of superficial iliac circumflex artery carrying sensory nerve and the volunteers who agreed to have the location of the LCSN measured between October, 2018 and October, 2020 were collected. The LCSN were located by percutaneous electrical nerve stimulation and ultrasound, and the patients were measured and located during surgery. Using Passing-Bablok regression and Bland-Altman graph to evaluated the consistency between transcutaneous electrical nerve stimulation, ultrasound and the surgical positioning.Results:A total of 43 subjects, including 22 patients and 21 volunteers, were selected for locating the LCSN. Thirty-nine males and 4 females, with an average age of 39 years old and an average BMI of 24.08. The operation time of percutaneous nerve electrical stimulation was(6±1) min, and the detection distance was(80.7±5.9) mm. The high-frequency ultrasound was(23±4) min, and the distance was(81.2± 6.6) mm. The average operation time of surgical measured distance was(80.9±8.2)(65-100) mm, the diameter of nerve was(2.3±0.8)(1.0-4.0) mm, and the operation time was(5±1) min. A 95% CI of Passing-Bablok regression intercept and slope of operation, percutaneous electrical nerve stimulation and ultrasoundincluded 0 and 1, respectively. The points on Bland-Altman plot were distributed on both sides, and 95% CI of total mean difference, total intercept and slope included 0. Therefore, it was can be considered that the application of percutaneous electrical nerve stimulation and ultrasound in LCSN localization has good consistency.Conclusion:The location point of the LCSN crossing the iliac crest which detected by transcutaneous electrical nerve stimulation and high-frequency ultrasound detection was close to the measurement taken during the operation. It was also showed that both of them can be used for preoperative locationing of the sensory branch of the sensory nerve flap, optimizing the design of the flap, shortening the operation time, and reducing the unnecessary injury in operation.

Objective To characterize the brain microstructure changes of amyotrophic lateral sclerosis (ALS) patients with various levels of cognitive impairment as measured by diffusion tensor imaging (DTI).Methods A total of 55 ALS patients and 20 healthy controls (HC) were enrolled in the Department of Neurology of Peking Union Medical College Hospital From September 2013 to March 2017,and all participants underwent neuropsychological assessments and DTI scans.According to their cognitive performance,ALS patients were further subclassified into ALS with normal cognition (ALS-Cn,n =27),ALS with cognitive impairment (ALS-Ci,n =17) and ALS-frontotemporal dementia (ALS-FTD,n =11)subgroups.Comparisons of voxel-based and atlas-based fractional anisotropy (FA) and mean diffusivity (MD) data were conducted among the four subgroups.Results In the voxel-based analyses,the FA showed significant differences in cingulate gyms,corpus callosum,brain stem and cerebellum,and MD showed significant differences in bilateral frontal lobe,temporal lobe,cingulate gyms,corpus callosum,and cerebellum among the four subgroups.Besides,when compared to ALS-Ci,ALS-Cn and HC groups in the order,the areas of involvement were larger and differences were more significant in ALS-FTD group.In the atlas-based analyses,the FA and MD of the corticospinal tracts revealed no difference within the patients groups,but decreased FA and increased MD were found compared to HC group.The ALS-IFD patients manifested widespread white matter fiber integrity damage and microstructure impairment in the extramotor areas compared to other three groups.Conclusion The brain white matter structural patterns of ALS patients correlate with their cognitive function,and there is a gradient of alterations across the ALS-Cn,ALS-Ci and ALS-FTD continuum.