Objective:To summarize the characteristics of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) caused by HINT1 gene mutation. Methods:Retrospective case summary.Clinical data of 2 Tibetan siblings diagnosed with ARAN-NM in the Department of Pediatrics of Peking University First Hospital in August 2023 were retrospectively analyzed.A review of literature reporting relevant Chinese patients was conducted.Results:The proband and her elder brother were aged 13 and 19, respectively.Both developed abnormal gait at the age of 11, followed by varus, claudication, and weak thumb strength.The proband also had neuromyotonia.Physical examinations showed that the proband and her elder brother had decreased muscle strength of the extremities, mainly in the thumbs and distal ends of lower limbs.The distal muscles of the proband′s lower extremities and the muscles of both hands of the proband′s elder brother were atrophied.Both feet showed talipes equinovarus in the proband and her elder brother.The proband′s electromyography (EMG) showed peripheral nerve injuries (motor and sensory axonal involvement, especially in distal ends) and myotonic potentials.The trio-whole exon sequencing detected homozygous pathogenic variation in HINT1 gene in both the proband and her elder brother, who were diagnosed as ARAN-NM based on c. 169A>G (p.K57E). After the Carbamazepine treatment, the proband′s neuromyotonia, numbness and weakness were relieved.Both the proband and her elder brother underwent orthopaedic surgery and rehabilitation.Their foot deformities and gait were significantly improved.Two Chinese literatures (2 patients) and four English literatures (8 patients) were retrieved.Including the proband and her elder brother in this study, there were 12 ARAN-NM patients, 10 of whom had clinical data.The ages of onset and diagnosis were 2-16 (1 case unknown) and 13-33 years old, respectively.Myasthenia was present in 9 patients, especially in distal ends.Eight patients were complicated with neuromyotonia, nine patients with muscle atrophy, seven patients with foot deformity, and two patients with sensory disturbance.Creatine kinase(CK) was elevated in all 9 patients tested or CK.EMG showed neurogenic injuries in all patients and neuromyotonia discharge in six patients.Three patients were treated with Carbamazepine, and some symptoms were relieved.Missense/nonsense mutations were found in the 12 patients, and the high-frequency variation was c. 112T>C (p.C38R). Conclusions:ARAN-NM is a rare autosomal recessive neuromuscular disease caused by HINT1 gene mutation.There is no ethnic difference in clinical manifestations, mainly distal limb weakness with neuromyotonia.Carbamazepine can alleviate some symptoms, and orthopaedic surgery can improve foot deformity and gait.

Objective To analyze the immune regulation mechanism of C-MET expression in non-small cell lung cancer by transcriptome sequencing technology.Methods The C-MET expression of lung adenocarci-noma cell line(H1993)and lung squamous cell carcinoma cell line(EBC-1)with high C-MET expression was silenced using siRNA molecular interference technology.The differentially expressed genes(DEGs)before and after C-MET silencing were detected using transcriptome sequencing technology.The signal pathways and related genes of the immune microenvironment in which C-MET may participate in regulation were excavated through bioinformat-ics analysis.Finally,the co-culture technique of human immune cells with H1993 and EBC-1 was used to verify the effect of C-MET on immune factors such as INF-γ,INF-β and CXCL-10.Results We detected 505 DEGs in total using transcriptome sequencing.There were 38 differentially expressed genes in the C-MET regulation group before and after H1993,24 upregulated differentially expressed genes,and 14 downregulated differentially expressed genes,respectively.There are a total of 467 differentially expressed genes in the C-MET regulation group of EBC-1,347 upregulated differentially expressed genes,and 121 downregulated differentially expressed genes,respec-tively.KEGG analysis of differential genes suggested that C-MET expression might participate in the regulation of immune cell regulatory factors through the IL-17 signaling pathway,white blood cell differentiation,cytokine receptor activity,cell cycle,cytokine receptor activity,and cytokine-cytokine receptor interaction.The effect of C-MET on immune factor secretion was verified using the co-culture technique of lung cancer cells and human immune cells,and the results of Rt-qPCR assay suggested,the mRNA transcriptional level of INF-γ in PBMC co-cultured with the C-MET high expression group was 77 times that of the low expression group,and the mRNA transcriptional level of CXCL-10 was 1.6 times that of the low expression group.The mRNA transcriptional level of INF--β was twice as high as that of the low expression group.Conclusion C-MET expression may participate in the regulation of tumor surrounding immune microenvironment through IL-17 signaling pathway,leukocyte differen-tiation,and cytokine receptor activity pathway.

Objective:To evaluate the clinical efficacy of modified anterior subacromial approach plate internal fixation for three- or four-part valgus impacted proximal humeral fractures.Methods:A retrospective analysis of 35 patients treated between November 2018 and November 2021 at Fuzhou Second General Hospital was performed, including 15 males and 20 females aged 61.7±7.8 years (range: 40 to 73 years). Patients were classified under the Neer system; 17 had 3-part fractures and 18 had 4-part fractures. The modified approach accessed the fracture site via the natural interval of the deltoid anterior bundle, facilitating fracture reduction and fixation using a plate. Operative time, incision length, intraoperative fluoroscopy time, follow-up duration, Constant-Murley score, fracture healing time, visual analogue scale (VAS) for pain, and humeral neck-shaft angle were assessed. Intraoperative and postoperative complications were also recorded.Results:All patients underwent successful surgery, with an average incision length of 8.1±0.3 cm (range, 7.6-9.0 cm) and intraoperative fluoroscopy time of 6.6±0.3 seconds (3-part fractures: 6.3±0.2 s, 4-part fractures: 6.8±0.2 s, t=6.350, P<0.001). Follow-up averaged 22.1±5.8 months (range, 14-31 months). Fracture healing occurred in 11.8±1.4 weeks (range, 10-15 weeks). At the final assessment, the VAS score was 1.6±0.7 (range, 1-3), the Constant-Murley score was 89.6±2.9 (range, 84-95), and the humeral neck-shaft angle was 133.4°±3.1° (range, 128°-138°; 3-part fractures: 133.6°±3.5°, 4-part fractures: 133.3°±2.8°, t=0.288, P=0.075). No complications such as avascular necrosis of the humeral head, varus collapse of the fracture site, or axillary nerve injury were recorded. Conclusion:The modified anterior subacromial approach plate internal fixation is a minimally invasive, safe, and effective treatment for valgus impacted three- and four-part proximal humeral fractures, demonstrated by excellent surgical outcomes and absence of major complications.

【Objective】 To investigate the efficacy of low-frequency neuromuscular electrical stimulation in the treatment of penile hypersensitive premature ejaculation. 【Methods】 A total of 66 patients treated during Nov.2021 and Aug.2022 were randomly divided into electrical stimulation group (n=22), local anesthesia group (n=21), and combined therapy group (n=23). The electrical stimulation group received low-frequency neuromuscular electrical stimulation, 5 times a week;the local anesthesia group used compound lidocaine cream 30 minutes before sexual intercourse;the combined therapy group received both treatments. After 3-month treatment, the latency of dorsal nerve somatosensory evoked potential (DNSEP), glans penis somatosensory evoked potential (GPSEP), intravaginal ejaculation latency time (IELT), premature ejaculation diagnostic tool score (PEDT), and spouse sexual satisfaction score were collected. 【Results】 After treatment, IELT, PEDT, spouse’s sexual life satisfaction score, DNSEP and GPSEP of the three groups were significantly improved (P<0.05). The combined therapy group outperformed the other two groups in all parameters (P<0.05). There were no statistically significant differences between the electrical stimulation group and local anesthesia group (P>0.05). 【Conclusion】 Low-frequency neuromuscular electrical stimulation is effective in the treatment of penile hypersensitive premature ejaculation, and the combination of local anesthetics is more effective, which is worthy of clinical application and promotion.

Objective:To investigate the clinical efficacy of proximal femoral nail anti-rotation (PFNA) assisted by the "3-2-1" surface positioning method in the treatment of femoral subtrochanteric fractures.Methods:A total of 97 patients with subtrochanteric fractures admitted to the Second Hospital of Fuzhou from January 2015 to December 2020 were retrospectively analyzed. They were divided into two groups according to whether the "3-2-1" surface positioning method (3 longitudinal axes, 2 preset incisions, and 1 auxiliary incision) was used. There were 44 patients in the surface positioning group, including 25 males and 19 females, aged 61.59±18.43 years (range, 22-90 years). According to the Seinsheimer classification, there were 13 cases of type II, 11 cases of type III, 6 cases of type IV, and 14 cases of type V. The mechanism of injury was low energy injury in 26 cases and high energy injury in 18 cases. There were 53 patients in the traditional positioning group, including 30 males and 20 females, aged 56.38±17.24 years (range, 24-90 years). According to the Seinsheimer classification, there were 9 cases of type II, 22 cases of type III, 9 cases of type IV, and 13 cases of type V. According to the mechanism of injury, there were 30 cases of low energy injury and 23 cases of high energy injury. The length of incision, operation time, and blood loss were recorded. At 1, 3, 6, and 12 months after operation, the anteroposterior and lateral X-ray films of the hip were taken to evaluate the imaging indicators (neck-shaft angle, anteroposterior and lateral displacement, and angulation), fracture healing, and complications (infection, malunion, loosening and breakage of the internal fixation, and periprosthetic fracture). The Harris hip score and EuroQol five dimensions questionnaire (EQ-5D) were evaluated.Results:All patients successfully completed the operation and were followed up for 15.12±1.54 months (range, 12-18 months). The operation time, incision length, dominant blood loss and hidden blood loss in the surface positioning group were 1.78(1.50, 2.00) h, 8(8, 9) cm, 300(200, 400) ml and 843(629, 1 130) ml, respectively, which were less than 2.10(1.69, 2.38) h, 10(9, 12) cm, 400(300, 500) ml and 1 030(954, 1 266) ml in the traditional positioning group, and the difference was statistically significant ( P<0.05). The neck-shaft angle in the surface positioning group was 135.54°±2.83°, which was larger than 132.33°±3.37° in the traditional positioning group, and the difference was statistically significant ( t=5.02, P<0.001). The anterolateral and lateral displacement and lateral image angle in the surface positioning group were 4.70±1.60 cm, 4.52±1.71 cm and 9.36°±2.94°, respectively, which were lower than 6.14±2.57 cm, 5.98±2.70 cm and 11.46°±4.68° in the traditional positioning group, and the difference was statistically significant ( P<0.05). One year after operation, the Harris hip score and EQ-5D score of the surface positioning group were 92(84, 99) points and 0.90(0.73, 1.00) points, respectively, which were higher than 88(74, 96) points and 0.81(0.72, 0.94) points of the traditional positioning group ( P<0.05). Conclusion:The "3-2-1" surface positioning method assisted PFNA internal fixation in the treatment of femoral subtrochanteric fracture can improve the quality of reduction, reduce intraoperative blood loss, and improve hip function and quality of life.

Objective:To investigate the predictors of the efficacy of extracorporeal shock wave lithotripsy (ESWL) in the treatment of ureteral calculi, and to evaluate the predictive value of the maximum ureteral wall thickness (UWT) in the treatment of ureteral calculi with ESWL.Methods:The clinical data of 138 patients with ureteral calculi treated with ESWL in the Second People's Hospital of Hefei from January 2020 to December 2020 were retrospectively analyzed. There were 91 males and 47 females. The age was (50.9±14.8) years old. The body mass index was (25.3±3.6) kg/m 2. The stones of 73 cases were located on the left side and 65 cases were on the right side. 70 cases had upper ureteral stones, 18 cases had middle ureteral stones, and 50 cases had lower ureteral stones. The median length of the stone was 8.5 (7.5, 10.5) mm. The CT value of the stone was 509 (343, 783) HU. The anteroposterior diameter of the renal pelvis was 12.0 (10.1, 16.0) mm, and UWT was (2.8 ± 0.8) mm. All patients underwent urinary non-contrast CT before lithotripsy, and the UWT of the stone bed was measured on the CT images. According to the stone removal situation 2 weeks after the operation, the patients were divided into a successful lithotripsy group and a failed lithotripsy group. Univariate analysis was used to compare the differences of various indicators between the two groups, and multivariate logistic regression was used to analyze the independent predictors of ESWL in the treatment of ureteral calculi for the indicators. The receiver operating characteristic (ROC) curve was used to calculate the area under the curve (AUC) of each independent predictor, and the cut-off value, sensitivity and specificity were analyzed. Results:All operations were successfully completed, and the success rate of the first-stage lithotripsy was 71.7% (99/138). The results of univariate analysis showed that the stone length diameter, stone CT value, anteroposterior diameter of renal pelvis, stone skin distance, and UWT were significantly different between the successful lithotripsy group and the failure group ( P<0.05). There was no significant difference in age, gender, body mass index, stone side and stone location ( P>0.05). The results of multivariate logistic analysis showed that stone length ( OR=1.393, P=0.015), stone CT value ( OR=1.002, P=0.043) and UWT ( OR=17.997, P<0.001) were all for the efficacy of ESWL in the treatment of ureteral stones. The ROC curve was used to compare the three independent predictors. The area under the UWT curve was the largest (AUC=0.898, P<0.001), followed by the length of the stone (AUC=0.744, P<0.001), and the CT value of the stone (AUC=0.672, P= 0.002). The cut-off value for UWT was 3.19 mm, which had a sensitivity of 91.9% and a specificity of 71.8% for predicting the success of ESWL lithotripsy. When dividing the patients into thin wall group (UWT ≤3.19 mm) and thick wall group (UWT>3.19 mm) according to the cut-off value, the success rates of one-stage lithotripsy in the two groups were 89.2% (91 / 102) and 22.2% (8/36), respectively ( P<0.05). Conclusions:UWT, calculus length and calculus CT value are independent predictors of the efficacy of ESWL in the treatment of ureteral calculi, and UWT has the best predictive value. When UWT≤3.19 mm, the success rate of ESWL in the treatment of ureteral calculi is higher.

Objective:To evaluate the outcome of the patients receiving dispatcher-assisted cardiopulmonary resuscitation (DA-CPR) delivered by first-responders who witnessed the out-of-hospital cardiac arrest (OHCA) before the Emergency Medical Service (EMS) arrived.Methods:We performed a search of the relevant literature exploring major scientific databases. We assessed the quality of the included cohort study according to the Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0. Meta-analysis was performed on three outcome indicators (recovery of spontaneous circulation survival to hospital discharge and survival with favourable neurologic outcome) using the Revman5.3 software.Results:A total of 21 studies with 349 822 patients were selected for the meta-analysis, including 182 125 patients in the DA-CPR group and 167 697 in the CPR-only group. The meta-analysis showed no significant difference between the DA-CPR and CPR-only groups in ROSC [ RR=1.10, 95% confidence interval ( CI): 0.94-1.29, P=0.24], survival to hospital discharge ( RR=1.10, 95% CI: 0.90-1.34, P=0.34) and survival with favourable neurologic outcome ( RR=1.01, 95% CI: 0.79-1.28, P=0.97) of the patients in America, Japan and Korea. However, there was a significant difference between the DA-CPR and the CPR-only groups in ROSC ( RR=2.61, 95% CI:1.53-4.46, P=0.0005), survival to hospital discharge( RR=6.08, 95% CI: 1.84-20.04, P=0.003), and survival with favourable neurologic outcome( RR=9.76, 95% CI: 1.87-51.02, P=0.007) of the patients in China. Conclusions:The overall effect of DA-CPR is significantly different for each country. In detail, DA-CPR offers a survival advantage (Return of spontaneous circulation, survival to hospital discharge and survival with favourable neurologic outcome) over CPR alone in China but no advantage in developed countries.

Objective:To investigate the effects of gestational diabetes mellitus (GDM) on neonatal metabolites.Methods:This retrospective cohort study recruited 580 singleton newborns who were born to women with GDM from January 2018 to December 2018 in Foshan Maternal and Child Health Care Hospital as the GDM group. Another 580 counterparts born to non-GDM singleton mothers with matching age were selected as the non-GDM group with an allocation ratio of 1 to 1. Neonatal genetic metabolic disease screening was performed within 3-7 days after birth. Two independent sample t-test, and multiple linear regression model were used for statistical analysis. Results:There were significant differences in seven amino acids and 10 fatty acids levels between the GDM and non-GDM group. The serum levels of six amino acids and eight fatty acids were increased in the GDM group, while the levels of piperamide [(140.79±32.60) vs (150.26±35.46) μmol/L, t=－4.733, P<0.001], palmitoyl carnitine [(2.59±0.81) vs (2.73±0.82) μmol/L, t=－2.940, P=0.003], and carbamate [(0.066±0.022) vs (0.069±0.022) μmol/L, t=－1.937, P=0.042] were decreased compared with the non-GDM group. After adjusting for maternal gravidity, parity, neonatal birth weight, and gender, multivariate linear regression analysis showed that GDM was positively correlated with three amino acids levels, which were cysteine ( ?=0.012), homocysteine ( ?=0.263) and leucine ( ?=4.225); and was negatively correlated with glycine ( ?=－6.271) and piperamide level ( ?=－9.885). With regard to the fatty acids, GDM was positively correlated with the neonatal propionyl carnitine ( ?=0.214), butyryl carnitine ( ?=0.014), 3-hydroxybutyryl carnitine ( ?=0.006), isovaleryl carnitine ( ?=0.009), 3-hydroxyisovaleryl carnitine ( ?=0.024), hexadecanoyl carnitine ( ?=0.001), decadienoyl carnitine ( ?=0.045), octadecadienyl carnitine level ( ?=0.128), but was negatively correlated with palmitoyl carnitine ( ?=－0.119), and carbamate ( ?=－0.002) (all P<0.05). Conclusions:Correlations between maternal GDM and the levels of amino acids and fatty acids in neonates was noted in this study, suggesting that maternal GDM may affect the metabolism of amino acids and fatty acids in offspring at early stage of life.

Objective:s To evaluate the impacts of prior surgical scores(PSS) on the clinical efficacy and perioperative safety of cytoreductive surgery(CRS) and hyperthermic intraperitoneal chemotherapy(HIPEC) for pseudomyxoma peritonei(PMP).Methods:From the comprehensive PMP database, we collect the cases treated for the first time by CRS+ HIPEC, to form this study cohort. The clinicopathological features, PSS, CRS+ HIPEC details, overall survival(OS), and serious adverse events(SAEs) are systematically analyzed, to study the correlations between PSS and OS or SAEs.Results:335 PMP cases received standardized CRS+ HIPEC in this study. The median OS is 58.2 months for PSS-0 patients, 63.7 months for PSS-1, and 55.4 months for PSS-2/3, with no statistically significant differences in OS among the different PSS groups(χ 2=0.499, P=0.779). Subgroup analysis by pathologic types also found no statistically significant differences among the different PSS groups. Moreover, no significantly statistical differences are observed in overall SAEs(χ 2=0.625, P=0.722), CRS-related SAEs(χ 2=0.267, P=0.901), and non-CRS-related SAEs(χ 2=0.677, P=0.715), among the different PSS groups. Conclusions:PSS does not pose significant impacts on the efficacy and safety of CRS+ HIPEC for PMP patients at experienced treatment center.

COVID-19 has spread all over the world since December 2019. Although normal work and production have resumed after the epidemic has been preliminarily controlled in China, the situation of prevention and control of the re-spread of COVID-19 in China is still severe and medical institutions are still facing a great pressure in a certain period of future because part of the patients may become re-positive after healing and input cases from abroad are increasing.Based on the 2016 edition of Technical Operating Norms for Cleaning and Disinfection and Sterilization in Hospital Central Sterile Supply Department, the 2012 edition of Technical Standards for Disinfection in Medical Institutions, Prevention and Control Protocols of 2019-nCoV(5 th edition) and Diagnosis and Treatment Protocols of 2019-nCoV (6th trial version), The Central Sterile Supply Department at The Third Hospital of Hebei Medical University has worked out Recycling Procedures for Medical Instruments After 2019-nCoV Infection, Collection Procedures for Medical Instruments After 2019-nCoV Infection, and Vehicle Transport Procedures for Medical Instruments After 2019-nCoV Infection.These contingency plans may be useful references for other Central Sterile Supply Department(CSSD) during the COVID-19 epidemic.