Objective To investigate the clinical features， genetic basis， and phenotypic heterogeneity mechanism of normokalemic periodic paralysis （normoKPP） associated with SCN4A-T704M mutation in the Chinese population， and to clarify its basis as an independent disease subtype. Methods Two Chinese families （13 patients） with normoKPP were included， and related clinical data were collected， including medical history， test results， electrophysiology， and muscle pathology. Sanger sequencing was used to identify SCN4A gene mutations， and a family co-segregation analysis and ACMG pathogenicity rating were used to validate the pathogenicity of the mutations. A literature review was performed to compare genotype-phenotype associations， and phenotypic heterogeneity and racial differences were also compared. Results All patients carried the heterozygous mutation of c.2111C>T （p.T704M） in the SCN4A gene （SCN4A-T704M）， which was in line with autosomal dominant inheritance， and the core phenotypes included disease onset in childhood （with a mean age of 1.5‒10 years）， paroxysmal proximal muscle weakness （induced by cold/hunger/strenuous exercise）， and normal blood potassium during the ictal period （3.5‒5.5 mmol/L）， as well as gastrocnemius hypertrophy and persistent muscle weakness in some patients. Electrophysiology and muscle pathology suggested myogenic damage， with significant phenotypic heterogeneity within the family， and family 2 had a significantly higher mean annual number of attacks than family 1 [（16.4±11.4）times/year vs （9.5±9.2）times/year].Functional speculation showed that the mutation triggered resting leakage current through defective slow inactivation of the sodium channel， resulting in an abnormally low threshold for muscle membrane excitability.Conclusion SCN4A-T704M mutation is a key pathogenic factor for normoKPP in Chinese families， and its clinical symptoms have the features of both episodic and chronic myopathy. Normal blood potassium and a lack of myotonic discharges support its attribute as an independent disease subtype. Phenotypic heterogeneity may be associated with the interaction between genetic modification and environmental factors， and calcium overload caused by sodium channel dysfunction may be a key mechanism of muscle fiber injury. This study provides new evidence for the precise diagnosis and treatment of normoKPP.

Professor LIU Qingguo's academic thoughts and clinical experience in treating pediatric tic disorders with scalp fire needling is introduced. Professor LIU believes that the core pathogenesis of this disease lies in "wind stirring and qi disorder, leading to the spirit failing to govern the body". Therefore, treatment should focus on "regulating the spirit to stabilize the form and extinguishing wind to stop movement". Clinically, the main acupoints include Shenting (GV24), Benshen (GB13), Xinhui (GV22), Baihui (GV20), Sishencong (EX-HN1), Fengchi (GB20), and Fengfu (GV16), which are rapidly punctured with fine fire needles, leading to significant therapeutic efficacy.
Humans ; Acupuncture Therapy/methods* ; Child ; Tic Disorders/therapy* ; Acupuncture Points ; Male ; Scalp ; Female ; Adolescent ; Child, Preschool

OBJECTIVES: To analyze the molecular mechanism of Xixian Pills for treatment of rheumatoid arthritis (RA). METHODS: Forty-eight rats were randomized into 6 groups (n=8), including a normal control group, a collagen-induced arthritis (CIA) model group, 3 Xixian Pills treatment (200, 400 and 800 mg/kg) groups, and a Tripterygium glycosides tablet (TGT) treatment group. In the latter 4 groups, the rats were treated with daily gavage of Xixian Pills or TGT 2 weeks after CIA modeling for 3 consecutive weeks. The differentially expressed proteins in high-dose Xixian Pills group and the model group compared with the normal control group were screened based on the tandem mass spectrometry tag (TMT) technology, and the core targets and signaling pathways were analyzed. The immune cell infiltration and gene expression data were analyzed using ggplot2 and tidyverse packages, and the correlation coefficients between the core targets and the immune cells were calculated. RESULTS: The CIA rats showed significantly increased serum levels of TNF-α and IL-6 and lowered serum IL-10 level. Treatments with high- and medium-dose Xixian Pills and TGT all significantly reduced serum TNF‑α and IL-6 and increased IL-10 levels in CIA rats. Proteomic analysis identified 160 differential proteins between the model group and high-dose Xixian Pills group, and the core targets included CCL5, STAT1, GZMB and IL7R. The areas under the ROC curve of CCL5 and STAT1 were both greater than 0.9. Immunohistochemical and immunofluorescence staining revealed increased levels of CCL5 and STAT1 in the ankle joints of CIA rats, which were significantly decreased after treatment with Xixian Pills. CONCLUSIONS Treatment with Xixian Pills offers protection of the joints in CIA rats possibly by inhibiting joint inflammation via regulating protein expressions of CCL5 and STAT1.
Animals ; Drugs, Chinese Herbal/pharmacology* ; Rats ; Arthritis, Rheumatoid/metabolism* ; Proteomics ; Tripterygium/chemistry* ; Arthritis, Experimental/metabolism* ; Tumor Necrosis Factor-alpha/blood* ; Interleukin-10/blood* ; Interleukin-6/blood* ; Male ; Rats, Sprague-Dawley ; Signal Transduction

Objective To screen the distribution frequency of Mur blood group among voluntary blood donors in Hezhou,Guangxi,and further analyze the molecular basis of of Mur antigen positive samples.Methods The Mur pheno-type of voluntary blood donors in Hezhou was serologically screened using microplate method,and the distribution frequency of Mur antigens in different ethnic groups was analyzed.Genetic typing was performed on these positive samples with PCR-SSP method to verify the accuracy of the serological method,and the genetic background was sequenced and analyzed.Re-sults Among 3 298 samples from voluntary blood donors in Hezhou,432(13.10%,432/3 298)were screened positive for Mur antigen,and PCR-SSP genotyping validation showed that all 432 samples were electrophoretic positive.Among them,the proportion of Han blood donors with positive Mur antigen was12.79%(331/2 587),Yao ethnic group was13.25%(64/483),Zhuang ethnic group was 16.51%(36/218),and no statistically significant difference was found in the three groups(P＞0.05).Further sequencing results showed that 428 samples were GYP(B-A-B)Mur,also known as GYP.Mur type(12.98%,428/3 298),the other 4 samples were GYP(B-A-B)Bun,also known as GYP.Bun type(0.12%,4/3 298).Conclusion The Mur blood type frequency is high in the voluntary blood donors in Hezhou,Guangxi,and is predominant characterized by GYP.Mur genotype.Due to ethnic integration,no significant difference was noticed in the frequency of Mur blood type distribution between Han,Zhuang and Yao population.Therefore,conducting extensive Mur blood group antigen and antibody testing in Hezhou is of great significance for ensuring clinical blood transfusion safety.

Objective: To investigate the changes of microorganisms and metabolites in joint effusion of patients with Rheumatoid arthritis(RA), Osteoarthritis(OA) and Urarthritis(UA). To provide new ideas for the study of the effect of microbiota on the pathogenesis of arthritis. Methods: Joint effusion samples were collected from 20 patients with RA, 20 patients with OA, and 20 patients with UA. 16S rRNA gene sequencing and untargeted ultra-high performance Liquid chromatography-mass spectrometry(LC-MS) were used to explore the differences in microorganisms and metabolites among the three groups. Pearson correlation analysis was used to detect the correlation between effusion microbiota and metabolites. Results: There were differences in microbial diversity and microbiota composition among the three groups. Combined with VIP>1 from OPLS-DA andP<0.05 from two-tailed Students t-test, 45 differential metabolites(Between RA and OA groups), 38 differential metabolites(Between UA and OA groups) and 16 differential metabolites(Between RA and UA groups), were identified. GO analysis and KEGG pathway analysis showed that the differential metabolic pathways among the three groups were mainly concentrated in citric acid cycle(TCA cycle), nucleotide metabolism, amino acid metabolism and glycolysis pathway. Correlation analysis of joint effusion microbiota and metabolites suggested that bacteria enriched in the three groups of joint effusion, such asPrevotella,Clostridium ruminosus,Prevotellaceae＿UCG-001, were related to many key metabolites such as lysozyme, uric acid, glucose, and L-glutamine. Conclusion This study shows that there are a variety of bacterial flora in joint cavity effusion of RA, OA, and UA patients, and the differential metabolites produced by them are involved in the pathogenesis of the three types of arthritis by affecting a variety of metabolic pathways.

Objective Analyzing risk factors for prolonged ICU stay after cardiac surgery of Infective Endocarditis(IE)provides a basis for preventing extended ICU durations in postoperative IE cases.Methods From January 1,2019,to March 31,2021,a total of 223 patients with infective endocarditis who underwent cardiac surgery in the cardiac surgery department of Guangdong Provincial People's Hospital were included.Patients were divided into non-prolonged group(<3 days)and prolonged group(≥3 days)based on postoperative ICU stay duration.There were 156 cases in the non-prolonged group and 67 cases in the prolonged group.Single-factor analysis of risk factors for prolonged ICU stay was conducted using t-tests or rank-sum tests.Variables with P<0.05 in the single-factor analysis were further subjected to binary logistic regression for multivariate analysis.The accuracy of the model was evaluated using the ROC curve.Results Among the 223 patients,67 experienced prolonged ICU stay,with an incidence rate of 30%.Single-factor analysis results included gender,age,history of coronary heart disease,history of stroke,preoperative heart failure,aortic valve regurgitation area,left ventricular end-diastolic diameter,left ventricular ejection fraction(LVEF)<60%,extracorporeal circulation time,aortic cross-clamp time,use of Intra-Aortic Balloon Pump(IABP),endotracheal tube reintubation,pulmonary infection,use of Continuous Renal Replacement Therapy(CRRT),and prolonged mechanical ventilation time(>24 hours),among others.Multivariate analysis results revealed that preoperative LVEF<60%(OR=3.004,P=0.041),postopera-tive use of IABP(OR=31.686,P=0.008),and mechanical ventilation time>24 hours(OR=8.135,P<0.001)were independent risk factors for prolonged ICU stay after cardiac surgery.The model's AUC value for predicting risk factors for prolonged ICU stay was 0.858(95%CI:0.806～0.901,P<0.001).Conclusion Preoperative left ventricular ejection fraction(LVEF)<60%,the use of IABP,and mechanical ventilation time>24 hours were identified as independent risk factors for prolonged ICU stay after infective endocarditis(IE)surgery.In clinical practice,it is important to comprehensively address and manage various risk factors with the aim of reducing ICU stay duration and improving the overall success rate of the surgery.

Objective:To investigate the dosimetric factors associated with acute nausea and vomiting (RINV) during intensity modulated radiotherapy for nasopharyngeal carcinoma.Methods:General clinical data and organs at risk (OAR) doses from 130 newly diagnosed early nasopharyngeal carcinoma patients who received radiation therapy alone in Henan Cancer Hospital from February 2018 to February 2023 were retrospectively analyzed. Dosimetric parameters were recorded, and the correlation between the parameters and the degree of nausea and vomiting was statistically analyzed using univariate and multivariate logistic regression models.Results:All 130 patients had symptoms of ≥ grade 1 nausea and vomiting. In the comparison of dosimetric parameters between patients with < grade 2 and ≥ grade 2 nausea, except the brainstem V 20 Gy, all parameters showed statistically significant differences (all P<0.05). The inner ear D max, and D max, D mean, V 10 Gy, V 20 Gy, V 30 Gy of the throat, oral cavity, pharyngeal constrictor, dorsal vagal complex (DVC) showed statistically significant differences between patients with grade 1 and grade 2 nausea (all P<0.05). The results of multivariate regression analysis showed that DVC V 30 Gy was a significant influencing factor in predicting the severity of nausea ( OR=73.95, 95% CI: 4.66-1172.60, P<0.001), and there was a significant correlation between oral V 30 Gy and the severity of vomiting ( OR=37.69, 95% CI: 1.26-1125.42, P=0.04). Conclusions:Even if OAR are exposed to lower doses of radiation, nausea or vomiting symptoms can still occur. The occurrence of RINV is significantly associated with DVC and oral radiation doses.

Objective:To explore the effect of combining extracorporeal shockwave therapy (ESWT) with electromyographic biofeedback on the motor functioning of children with spastic cerebral palsy.Methods:Fifty children with spastic cerebral palsy (2-7 years old) were randomized into a control group and an experimental group, each of 25. Both groups received routine rehabilitation and electric stimulation therapy with electromyographic biofeedback, while the experimental group was additionally provided with ESWT. Before and after 8 weeks of treatment, integral electromyograms were recorded and the root mean square values of the electromyogram recorded from the tibialis anterior muscle were computed. Lower limb spasticity and motor ability were evaluated by using the Modified Ashworth Scale (MAS), the Modified Tardieu Scale (MTS), and the D and E regions of the Gross Motor Function Measurement Scale (GMFM-88).Results:After the treatment the results of both groups had improved significantly in terms of the surface electromyography of the tibialis anterior muscle, MAS scores, R1 in the MTS and the difference between R2 and R1, and the GMFM-88 regional scores. All of the improvements were significantly greater in the experimental group than in the control group, on average.Conclusions:Combining ESWT with EMG biofeedback can better relieve lower limb spasticity and improve the motor functioning of children with spastic cerebral palsy.

Objective To analyze the epidemiological characteristics of pathogenic bacteria for respiratory tract infection in children with asthma to facilitate the prevention, diagnosis, and treatment. Methods Among 206 hospitalized children with asthma and respiratory tract infection from January 2019 to December 2021 were selected for analysis in this study, including 131 cases with upper respiratory tract infection and 75 cases with lower respiratory tract infection. The potential correlation between the distribution of pathogenic bacteria and drug resistance was analyzed and compared between the two groups. Results A total of 167 strains of pathogenic bacteria were detected in 131 children with upper respiratory tract infection, and 262 strains were detected in 75 children with lower respiratory tract infection. The distribution characteristics of pathogenic bacteria in children with asthma and acute upper respiratory tract infection were consistent with the total distribution characteristics. Among children with asthma and acute lower respiratory tract infection, the infection of Gram-positive bacteria was higher than that of Gram-negative bacteria in female children younger than 5 years old, and the proportion of staphylococcus epidermidis was the highest (P<0.05), The distribution characteristics of pathogenic bacteria in children of other ages and sexes were consistent with the total distribution characteristics. The resistance rate of Gram-positive bacteria to penicillin, erythromycin and clarithromycin was high, while the resistance rate of Gram-negative bacteria to ampicillin, cefazolin and cefuroxime was high. The distribution characteristics of pathogenic bacteria in children with upper respiratory tract infection and lower respiratory tract infection were consistent. Conclusion In children with pediatric asthma and respiratory tract infection, the main pathogens are Gram-negative bacteria, and the drug resistance rate is high. However, the infection of Gram-positive bacteria (mainly Staphylococcus epidermidis) in young female children under 5 years old is higher than that of Gram-negative bacteria in other children, which deserves special attention.

Objective:To compare the effectiveness and safety of mechanical thrombus aspiration combined with superior mesenteric artery transcatheter thrombolysis with those of simple superior mesenteric artery transcatheter thrombolysis in the treatment of portal vein-superior mesenteric vein thrombosis.Methods:A retrospective case-control study was used to analyze the clinical data of 27 patients with portal vein thrombosis treated by interventional therapy in Beijing Friendship Hospital Affiliated to Capital Medical University from February 2020 to October 2022. According to different interventional procedures, they were divided into two groups: 13 cases were treated with mechanical thrombus aspiration combined with superior mesenteric artery catheterization thrombolysis (combined treatment group), and 14 cases were treated with superior mesenteric artery catheterization thrombolysis alone (catheterization thrombolysis group). The postoperative and preoperative portal vein thrombus grade, catheterization thrombolysis time, parenteral nutrition time and operation-related complications were observed and compared between the two methods, and the incidence of long-term intestinal necrosis was compared after postoperative follow-up. Measurement data of normal distribution were expressed as mean±standard deviation( ± s), t-test was used for comparison between groups. Counting data were expressed as cases and percentage(%), and comparison between groups was used Chi-square test or Fisher exact probability method. Results:There was significant difference in the grade of portal vein thrombosis between the combined treatment group and the catheterization thrombolysis group( P<0.05). The thrombolytic time of catheterization in the two groups was (2.38±0.74) d and (4.79±1.15) d, respectively, and the time of parenteral nutrition was (4.08±2.87) d and (8.50±3.16) d, respectively. The difference was statistically significant ( P<0.05). There was no significant difference in operation-related complications between the two groups ( P>0.05). There were no severe injury of liver and kidney function in both groups. One patient in each group underwent long-term enterectomy. Conclusions:Mechanical thrombus aspiration combined with superior mesenteric artery thrombolysis is safe and effective in the treatment of portal vein thrombosis. Compared with simple superior mesenteric artery thrombolysis, mechanical thrombus aspiration combined with superior mesenteric artery thrombolysis can increase the rate of thrombus clearance and reduce the time of thrombolysis and parenteral nutrition support.