Objective To explore the distribution of exon mutations of CDX1 gene in children with congenital anorectal malformation (ARM).Methods In a case-control study conducted between June 2003 and March 2009,108 children with congenital ARM and 120 normal children undergoing health examinations who were admitted to the Shengjing Hospital of China Medical University (85 children with congenital ARM and 60 normal children) and the Affiliated Hospital of Hebei University (23 children with congenital ARM and 60 normal children) were assigned to the case group and the control group,respectively.PCR was performed to extend exons of the CDX1 gene and then sequence analysis was conducted after genomic DNAs were extracted from the peripheral blood.Categorical data with normal distribution were presented as (x) ± s and analyzed using the t test,count data were analyzed using the chi-square test.Results Exon sequencing was performed in the case group.Four children with 4 mutations of CDX1 located at coding regions were detected,including 1 with archostegnosis,1 with rectoperineal fistula,1 with rectovestibular fistula and 1 with rectourethral fistula.Four mutations located at the highly conserved homology domain of the CDX1 gene.The mutations of 1 child located at exon 1 of CDX1 gene (c.213-214Ins GAA).The mutations of 2 children located at the splicing region to exon 3 of the CDX1 gene (c.6G ＞ C,c.27G ＞ T).The mutations of 1 child located at the idiocratic splicing region to exon 3 of the CDX1 gene(c.18A ＞ C).No mutation was detected in the controls.Mutations of the CDX1 gene at c.213-214Ins GAA,c.6G ＞ C,c.27G ＞ T,and c.18A ＞ C,respectively,resulted in amino acid substitutions at 96-98Ins E,K199N,R206S,and Q203H in the protein.Conclusion Exon 1 or 3 mutations of the CDX1 gene is identified in children with congenital ARM,and CDX1 gene may be a susceptibility gene for ARM.

Objective:To analyze the diagnostic value of preoperative electromyography and spasticity assessment for patients with hemifacial spasm, and to define a relationship between intraoperative electrophysiological examination and prognosis in order to provide help for clinical diagnosis and treatment.Methods:Thirty-one patients with hemifacial spasm were selected for the clinical spasticity scoring and divided into a general spasm group ( n=27) and a severe spasm group ( n=4). All received preoperative neurophysiological examination to record their twitch discharge, facial nerve conduction velocity (MCV), lateral spread (LSR) of the spasm, brainstem auditory evoked potential (BAEP), and blink reflex. Electrophysiological monitoring then recorded intraoperative LSR. According to whether the LSR disappeared or not, the patients were divided into the LSR disappearance group (of 15) and the LSR residual group (of 16), and facial muscle activity was recorded again one, three and six months after the operation. Results:Preoperative EMG examination of both groups showed positive LSR and that facial nerve MCV was within the normal range. There were, though, significant differences between the two groups in the twitching discharge by needle electromyography, blink reflex and preoperative BAEP. One week after the operation, one member of the residual group and 3 from the disappearance patients of the former and latter group had recovered in terms of LSR, with 3 and 7 cases significantly relieved, respectively. Two months later, the corresponding figures were 5 and 7, 3 and 6, respectively. Half of a year after the surgery, 5 from the residual group and 12 from the disappearance group had fully recovered in terms of LSR, while 9 and 2 cases were significantly relieved. Altogether, there were significant differences within the two groups in terms of recovery among all the time points, with significantly better recovery in the LSR disappearance group than the LSR residual group at 1 week after operation, while there were no significant differences between the two groups in recovery 3 and 6 months after their operation.Conclusions:Preoperative electromyography can provide objective assessments of the scope, severity, and facial nerve excitability of patients with hemifacial spasm. Real-time intraoperative electrophysiology monitoring can help surgeons to objectively assess the effect of decompression and to find and avoid nerve traction injury in surrounding areas quickly.

Objective:To further elucidate the pathogenesis of hemifacial spasm by analyzing blinking reflex characteristics.Methods:A total of 63 patients with hemifacial spasm (hemifacial spasm group) who underwent neuroelectrophysiological evaluation in Department of Neurological Electrophysiology, Guizhou Provincial People's Hospital from January 2021 to December 2022 were included as study subjects. Additionally, 58 patients with primary trigeminal neuralgia (trigeminal neuralgia group), 8 patients with post-facial paralysis associated exercise (post-facial paralysis associated exercise group), and 20 healthy volunteers (normal group) were selected as controls. Differences in facial nerve motor conduction velocity, complex muscle action potential latency, and blinking reflex characteristics including R1 latency, R1 amplitude, R2 initiation latency, R2 amplitude, R2 terminal latency, R2' initiation latency recorded on the affected side, R2' amplitude recorded on the affected side, and R2' terminal latency recorded on the affected side were collected and compared. Severity of hemifacial spasm was graded from grade 1 to grade 4 according to Samsung Medical Center scoring system; based on microvascular decompression findings regarding responsible blood vessels contacted with the facial nerve, patients were divided into one responsible blood vessel group and two or more responsible blood vessels group; trends or differences in incidences of increased/prolonged blink reflex indexes among all groups were analyzed.Results:No significant difference in facial nerve motor conduction velocity or complex muscle action potential latency was noted among the 4 groups ( P>0.05); the hemifacial spasm group had significantly higher R1 amplitude than the trigeminal neuralgia group and post-facial paralysis associated exercise group; additionally, the hemifacial spasm group had significantly higher R2 amplitude, R2' amplitude recorded on the affected side, R2 terminal latency, and R2' terminal latency recorded on the affected side compared with the other 3 groups ( P<0.05). Among patients with varying degrees of hemifacial spasm, increased incidences of increased R1 amplitude and prolonged R2 terminal latency were noted with increased spasm degrees, enjoying significant differences ( P<0.05). No significant differences in incidences of increased R1 amplitude, increased R2 amplitude, prolonged R2 terminal latency, increased R2' amplitude recorded on the affected side or prolonged R2' terminal latency recorded on the affected side were noted between one responsible blood vessel group and two or more responsible blood vessels group ( P>0.05). Conclusion:Increased R1 amplitude and prolonged R2 latency in patients with hemifacial spasm further substantiate the pathogenesis of hyperexcitability within facial nerve nucleus.