Objective:To investigate the application value of intraoperative motor nerve monitoring in cervical neurogenic tumor surgery.Methods:The efficacy of intraoperative neuromonitoring (IONM) was analyzed retrospectively in 18 patients, including 6 males and 12 females, aged from 15 to 74 years, treated in Affiliated Drum Tower Hospital, Medical School of Nanjing University from June 2019 to September 2022 who underwent total cystectomy of cervical neurogenic tumors under intraoperative nerve monitoring.Results:All 18 patients had complete tumor removal, including 8 patients with tumors from the vagus nerve and 10 patients with tumors from the brachial plexus nerve. Postoperative nerve functions were normal in patients with tumors from brachial plexus nerve, and incomplete vocal cord paralysis occurred in 2 patients with tumors from vagus vagus nerve. The total incidence of motor nerve injury was 11.1% (2/18). All patients were followed up for 6 to 45 months, with no tumor recurrence.Conclusion:Intraoperative neuromonitoring has significant values in surgery of cervical neurogenic tumors, which is helpful to remove completely the tumors on the basis of protecting the nerve functions to the maximum extent.

Nowadays the contents and form of community pharmaceutical services have become more complex, it is necessary to develop pharmaceutical services in line with the characteristics of community and meeting the actual needs of patients. The "dual drug" refers the combination of pharmaceutical effects of the drug with the language effects of pharmacists. This paper reviews the status quo of pharmaceutical services at home and abroad, patient needs and demands, problems and challenges in pharmaceutical services. The article introduces the experiences of development and implementation of pharmaceutical services based on the"dual drug"priciple, and the preliminary results in author′s institution, to provide reference for a nevel model of pharmaceutical services.

Objective:To explore the clinical characteristics and genetic basis for a child with global developmental delay and autism.Methods:A child who had presented at West China Second University Hospital of Sichuan University on April 13, 2021 was selected as the study subject. Clinical manifestations, laboratory examination and result of genetic testing were analyzed.Results:The main symptoms of the child had included cognitive, language and motor delay, autism and epilepsy. Electroencephalogram revealed multiple focal discharges in both waking and sleeping stages, with the remarkable one seen at the sleeping stage. Cranial MRI showed pachygyria and local cortical thickening, Whole exome sequencing (WES) revealed that the child has harbored a heterozygous c. 1589_1595dup (p.Gly533Leufs*143) frameshifting variant in the TBR1 gene (OMIM 604616). Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PS2+ PVS1_Supporting+ PM2_Supporting). After treated with levetiracetam and rehabilitation training, the child did not have seizure in the past 5 months, and his motor development has also significantly improved. Conclusion:The c. 1589_1595dup variant of the TBR1 gene probably underlay the disease in this patient.

The structure and common faults of Philips iU22 and iE33 ultrasound diagnostic equipment were introduced,the fault phenomena,causes and maintenance ideas in the daily work of this series of ultrasonic equipment were analyzed.The equipment was repaired after the failure occurred by analyzing the fault causes,replacing the corresponding components or reinstalling the system software etc.,so as to etc.,so as to provide a reference for the daily maintenance work of medical engineers.

OBJECTIVE: To explore the clinical feature and genetic variant of a child with autosomal recessive Charlevoix-Saguenay type spastic ataxia (ARSACS). METHODS: Clinical data of a child who was admitted to the West China Second Hospital of Sichuan University on April 30, 2021 was collected. Whole exome sequencing (WES) was carried out for the child and his parents. Candidate variants were verified by Sanger sequencing and bioinformatic analysis based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The child, a 3-year-and-3-month-old female, had a complain of "walking instability for over a year". Physical and laboratory examination revealed progressive and aggravated gait instability, increased muscle tone of the right limbs, peripheral neuropathy of the lower limbs, and thickening of retinal nerve fiber layer. The results of WES revealed that she has harbored a maternally derived heterozygous deletion of exons 1 to 10 of the SACS gene, in addition with a de novo heterozygous c.3328dupA variant in exon 10 of the SACS gene. Based on the ACMG guidelines, the exons 1-10 deletion was rated as likely pathogenic (PVS1+PM2_Supporting), and the c.3328dupA was rated as a pathogenic variant (PVS1_Strong+PS2+PM2_Supporting). Neither variant was recorded in the human population databases. CONCLUSION The c.3328dupA variant and the deletion of exons 1-10 of the SACS gene probably underlay the ARSACS in this patient.
Female ; Humans ; Heat-Shock Proteins/genetics* ; Muscle Spasticity/genetics* ; Mutation ; Spinocerebellar Ataxias/pathology* ; Child, Preschool

Objective:To explore the effects of standard meal and treadmill exercise test on body surface gastrointestinal electrogram in healthy subjects, and to provide more evidence for the clinical application of gastrointestinal electrogram.Methods:From January to June 2021, a total of 100 healthy asymptomatic volunteers underwent gastrointestinal electrogram after fasting, standard meal and treadmill exercise test. After the subjects fasted for more than 8 hours, the gastrointestinal electrogram was performed after the subjects were lying flat, quiet, and breathing steadily, electrodes were placed on the the body surface projection positions of the gastric body, the lesser curvature, the greater curvature, the antrum, the ascending colon, the transverse colon, the descending colon, and the rectum. The fasting gastrointestinal electrogram was recorded for 6 min. Then lay for 5 to 10 min after the standard meal (100 g bread, 250 mL milk), the postprandial gastrointestinal electrogram was recorded for 6 min. And lay for 5 to 10 min after treadmill exercise test, then the postexercise gastrointestinal electrogram was recorded for 6 min. The frequency and amplitude of gastrointestinal electrogram waveforms of the three time points were compared, and the percentage of gastrointestinal electrical rhythm disorder, and slow wave frequency instability coefficient were also compared. Stratified analysis of gastric motility was performed according to age, sex and body mass index. Paired t-test, Pearson Chi-squared test, continuity correction Chi-squared test, Fisher′s exact method and Speraman correlation were used for statistical analysis. Results:The standard meal did not obviously affect the mean frequency of the gastric electrocardiogram, however the mean amplitude of gastric electrocardiogram significantly increased after standard meal compared with that of fasting, especially in the electrodes placed at lesser curvature((148.5±8.7) μV vs.(113.2±5.0)μV ), greater curvature((176.3±11.3) μV vs.(126.1±7.3) μV), and antrum((161.8±10.6) μV vs.(117.6±4.91) μV), and the differences were statistically significant( t=4.63, 4.63 and 3.99, all P< 0.001). There were no significant changs in rhythm and stability of the gastric electrocardiogram. The mean frequency of intestinal electrograms at the ascending colon, the transverse colon, the descending colon, and the rectum decreased after the standard meal compared with that of fasting ((10.8±0.2) count per minute(cpm) vs.(11.5±0.2) cpm, (10.5±0.2) cpm vs.(11.2±1.6) cpm, (10.9±0.2) cpm vs.(11.7±0.2) cpm, (11.1±0.2) cpm vs.(11.8±0.2) cpm), and the differences were statistically significant ( t=3.82, 4.55, 4.39, and 3.98, all P<0.001); the mean amplitude of the ascending colon, the transverse colon, and the rectum increased compared with that of fasting ((129.8±6.1) μV vs. (110.9±6.4) μV, (119.6±4.1) μV vs. (101.3±4.7) μV, (124.1±4.6) μV vs. (106.2±5.7) μV), and the differences were statistically significant ( t=2.62, 3.76, and 3.16; P=0.010, <0.001, =0.002); and the number of leads with enteroelectric rhythm disorder increased (398 vs. 389, the total number of leads is 400), and the difference was statistically significant( χ2=7.31, P=0.026). The mean frequency of gastric electricity after treadmill exercise in electrode placed at antrum increased compared with that after standard meal ((3.4±0.4) cpm vs.(3.3±0.3) cpm), and the differences were statistically significant( t=2.45, P=0.016), and the mean amplitude of gastric electricity in electrodes placed at gastric body, lesser curvature and antrum increased compared with those after standard meal((160.2±8.6) μV vs. (133.9±6.4) μV, (178.1±10.0) μV vs. (148.5±8.7) μV, (202.5±10.2) μV vs. (161.8±10.6) μV), and the differences were statistically significant ( t=2.30, 2.35, and 2.48; P=0.024, 0.021, and 0.015). Treadmill exercise affected the rhythm and stability of gastric electricity, and the number of electrodes with instable and abnormal coefficient frequency slow-wave significantly increased (25 vs. 1, the total number of electrodes is 400), and the difference was statistically significant( χ2=22.90, P<0.001). There was no significant change in the mean frequency of the colonic electricity after treadmill exercise compared with that after standard meal, however the mean amplitude of intestinal electrical waveform at the ascending colon, the transverse colon, the descending colon, and the rectum increased compared with those after standard meal((171.2±8.4) μV vs. (129.8±6.1) μV, (166.1±7.7) μV vs. (119.6±4.1) μV, (147.2±7.2) μV vs. (121.1±4.9) μV, (149.6±7.3) μV vs. (124.1±4.6) μV), and the differences were statistically significant( t=3.51, 5.49, 3.09, and 2.83; P=0.001, <0.001, =0.003, and=0.006), which affected the rhythm and stability of the colonic electricity, and the number of electrodes with instable and abnormal coefficient frequency slow-wave significantly increased (10 vs. 3, the total number of electrodes is 400, χ2=4.04, P=0.040). Gender was correlated with mean frequency of gastric electricity after standrdmeal and treadmill exercise test and mean amplitude of fasting and standard postprandial gastric electricity( r=0.242, -0.272, 0.286, 0.242; P=0.015, 0.006, 0.004, 0.015), and with mean amplitude of fasting and standard postprandial electricity( r=0.225, 0.460; P=0.024, <0.001). Age was only associated with mean frequency of fasting gastric electricity( r=-0.214, P=0.033). Body mass index was correlated with mean gastric electrical amplitude after fasting, standard meal and treadmill exercise( r=-0.347, -0.260, -0.211; P<0.001, =0.009, =0.036), as well as with the mean gastric electricity frequency after treadmill exercise ( r=0.242, P=0.016). Body mass index was correlated with the mean amplitude and frequency of fasting and standard postprandial intestinal electricity ( r=-0.261, -0.296, -0.400, -0.286; P=0.009, =0.003, < 0.001, =0.003). In the healthy volunteers with female gender and body mass index < 24 kg/m 2, there were statistically significant differences in the changes of gastric motility after standard meal (Fisher′s exact method, P=0.022 and 0.024). Conclusion:Both standard meal and treadmill exercise test affect gastrointestinal electrical activity, and exercise caused more changes in gastrointestinal electrical activity than standard meal.

Objective:To investigate the incidence of acute kidney injury (AKI) following pancreaticoduodenectomy and related risk factors in elderly patients.Methods:The clinical data of elderly patients who underwent pancreaticoduodenectomy in Henan Provincial People′s Hospital from January 2017 to June 2020 were collected retrospectively. According to the changes of serum creatinine within 48 h or 7 days after operation, the patients were divided into AKI group and non-AKI group. The basic clinical characteristics of the two groups were compared, and the incidence of AKI was calculated. Multivariate logistic regression model was used to analyze the risk factors of postoperative AKI.Results:A total of 322 elderly patients were enrolled, with age of (67.1±5.2) years old (60-85 years old) and 186 males (57.76%). Among 322 elderly patients, there were 41 patients (12.73%) suffering from AKI following pancreaticoduodenectomy. Compared with the non-AKI group, the level of bilirubin in AKI group was higher ( Z=-2.012, P=0.044), and the level of hemoglobin in AKI group was lower ( Z=-2.111, P=0.035). Multivariate logistic regression analysis showed that increased preoperative total bilirubin ( OR=1.003, 95% CI 1.000-1.006, P=0.027) and postoperative exploratory laparotomy ( OR=3.936, 95% CI 1.071-14.460, P=0.039) were the independent influencing factors for AKI after pancreaticoduodenectomy in elderly patients. Conclusions:The incidence of AKI after pancreaticoduodenectomy in elderly patients is 12.73%. Preoperative high bilirubin and postoperative exploratory laparotomy may be the independent risk factors for AKI after pancreaticoduodenectomy in elderly patients.

OBJECTIVE: To analyze the clinical characteristics and ZBTB18 gene variant in a child with epilepsy and global developmental delay. METHODS: Clinical data and laboratory examination of the patient were reviewed. Whole exome sequencing (WES) was also carried out for the family trio. RESULTS: The main manifestations of the child included global developmental delay, short stature, epileptic seizures. EEG revealed frequent occurrence of sharp (slow) waves in the right central region during sleeping, with sharp waves occasionally seen in the frontal and right posterior temporal regions. Cranial MRI has shown no obvious abnormality. WES has identified a de novo pathogenic variant in the ZBTB18 gene [NM_205768.3: exon 2: c.1282_1283del (p.Phe428Leufs*72)]. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PVS1_Moderate+PM2_Supporting). Following treatment with levetiracetam and rehabilitation, the seizures have been controlled for nearly half a year, with improvement of the psychomotor and language development. So far 28 children have been discovered with ZBTB18 gene mutations, and there was a significant difference in the clinical phenotypes of motor retardation, language retardation and epilepsy between those harboring frameshift/nonsense mutations and missense mutations. CONCLUSION The c.1282_1283del (p.Phe428leufs *72) variant of the ZBTB18 probably underlay the autosomal dominant mental disorder type 22 in this child. Compared with missense mutations, frameshift/nonsense mutations may predispose more to motor retardation, delayed language development and epilepsy.
Codon, Nonsense ; Epilepsy/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Whole Exome Sequencing

OBJECTIVE: To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome. METHODS: Whole exome sequencing was carried out for the child. RESULTS: The patient has presented with developmental delay, hypotonia, strabismus and snoring. Cranial MRI revealed hypomyelination, while the EEGs were normal. Genetic testing revealed a de novo variant of the AHDC1 gene, namely c.730delA (p.Ile244Serfs*16), which was classified as pathogenic (PVS1+PS2+PM2). Together with 60 cases from the literature, individuals harboring a AHDC1 variant commonly have delayed motor milestones, speech delay, facial dysmorphism and hypotonia. Dysgenesis of corpus callosum is also common. In total 47 AHDC1 variants have been reported, among which truncating variants were the most common type. CONCLUSION The c.730delA (p.Ile244Serfs*16) variant of the AHDC1 gene probably underlay the Xia-Gibbs syndrome in this patient. Above finding has provided a basis for the clinical diagnosis.
Abnormalities, Multiple/genetics* ; Child ; DNA-Binding Proteins/genetics* ; Humans ; Intellectual Disability/genetics* ; Muscle Hypotonia ; Mutation ; Whole Exome Sequencing

OBJECTIVE: To analyze the clinical characteristics and CSNK2B gene variant of 2 children with Poirier-Bienvenu neurodevelopmental syndrome, and to identify the possible pathogenic causes and provide evidence for clinical diagnosis. METHODS: Two children with Poirier-Bienvenu neurodevelopmental syndrome were selected from West China Second University Hospital, Sichuan University. The clinical manifestations, laboratory examination and CSNK2B gene variant were analyzed. RESULTS: The main manifestations of 2 children were epilepsy, motor or intellectual retardation. Whole exon sequencing showed that CSNK2B gene c. 291+4A>T heterozygous splicing variant was found in case one, and CSNK2B copy number variation(CNV) was lost in case two. Case one received no special treatment, followed up for 8+ months, seizures and motor development were improved; case two had recurrent seizures for 9+ years, and received levetiracetam and clonazepam antiepileptic treatment. No seizures have occurred for 2 years now, and a large number of epileptic discharges can still be seen in video electroencephalogram (VEEG) with slightly backward intelligence and language development. CONCLUSION Our study further proves that the pathogenic variant of CSNK2B is related to epilepsy with developmental disorder, and enrich is the CSNK2B gene variant spectrum. The pathogenesis of CSNK2B has great clinical heterogeneity, with great difference in severity of nervous system injury and different prognosis, and agenesis of corpus callosum may be one of its clinical phenotypes.
Child ; DNA Copy Number Variations ; Developmental Disabilities/genetics* ; Epilepsy/genetics* ; Humans ; Intellectual Disability/genetics* ; Seizures/genetics*