Effects and mechanism of Setaria italica extract on improving sleep in insomnia mice / 中国药房

OBJECTIVE To investigate the effects of Setaria italica extract on improving insomnia model mice and to explore its potential mechanisms. METHODS The mice were randomly assigned into blank group， model group， positive control group （diazepam， 2.6 mg/kg）， and S. italica extract low-dose， medium-dose and high-dose groups （1.2， 2.4， 4.8 g/kg）， with 10 mice in each group. Except for the blank group， all other groups received intraperitoneal injection of para-chlorophenylalanine （PCPA） to establish the insomnia model. After modeling， the blank group and model group were given a constant volume of normal saline intragastrically， and administration groups were given relevant medicine intragastrically， with a volume of 0.01 mL/g， once a day， for 7 consecutive days. After the administration， the open-field test was conducted to observe the praxiological changes of mice， and to determine the levels of 5-hydroxytryptamine （5-HT） and 5-hydroxyindoleacetic acid （5-HTAA） in the hippocampal tissue， as well as the contents of 5-HT， brain-derived neurotrophic factor （BDNF）， interleukin-2 （IL-2）， IL-6， B-cell lymphoma-2 （Bcl- 2）， and Bcl-2-associated X protein （Bax） in the serum. The expression of phosphoinositide 3-kinase/protein kinase B/nuclear factor- κB （PI3K/Akt/NF-κB） signaling pathway related protein was determined in the hippocampus of mice. RESULTS Compared with the model group， the total exercise time of mice in S. italica extract high-dose group was significantly prolonged， but the total rest time was significantly shortened （P＜0.01）； the number of standing times and modification times were significantly reduced （P＜ 0.01）. The contents of 5-HT， BDNF， and Bcl-2 in serum， and Bcl-2/Bax were significantly increased， while the contents of IL-2， IL-6， and Bax were significantly reduced （P＜0.05 or P＜ 0.01）. The content of 5-HTAA in the hippocampal tissue and 202104010910029）；the phosphorylation levels of PI3K and Akt proteins were increased significantly， while the phosphorylation level of NF-κB p65 protein was decreased significantly （P＜0.05）.CONCLUSIONS High-dose of S. italica extract demonstrates significant therapeutic effects on insomnia in mice， and the mechanism of which may be associated with the regulation of PI3K/Akt/NF-κB signaling pathway.

Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency / 中华儿科杂志

Objective: To summarize the clinical and genetic characteristics of children with β-ketothiolase deficiency (BKTD). Methods: The clinical characteristics, biochemical, markers detected by tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS), as well as the variants in ACAT1 gene among 5 children with BKTD in Children's Hospital of Chongqing Medical University between October 2018 and December 2022 were retrospectively analyzed. Results: The onset age of the disease in 5 patients (4 males and 1 female) ranged from 9.7 to 28.0 months. During the acute phase, severe metabolic acidosis was observed with a pH of 6.9-7.1, as well as hypoglycaemia (2.3-3.4 mmol/L) and positive urinary ketone bodies (+-++++). Blood levels of methylcrotonyl carnitine, methylmalonyl carnitine and malonyl carnitine were 0.03-0.42, 0.34-1.43 and 0.83-3.53 μmol/L respectively and were significantly elevated. Urinary 2-methyl-3-hydroxybutyric acid was 22-202 and 3-hydroxybutyric acid was 4-6 066, both were higher than the normal levels. Methylcrotonylglycine was mild elevated (0-29). The metabolites detected by MS/MS and GC/MS were significantly reduced after treatment. Analysis of ACAT1 gene mutation was performed in 5 children. Most variants were missense (8/9). Four previously unreported variants were identified: c.678G>T (p.Trp226Cys), c.302A>G (p.Gln101Arg), c.627_629dupTGA (p.Asn209_Glu210insAsp) and c.316C>T (p.Gln106Ter), the first 2 variants were predicted to be damaging by SIFT, PolyPhen-2 and Mutation Taster software. c.316C>T (p.Gln106Ter) is a nonsense variant. Conclusions: β-ketothiolase deficiency is relatively rare, lacks specific clinical manifestations, however severe metabolic acidosis, hypoglycemia, and ketosis during the acute onset were consistent findings. Missense mutations in the ACAT1 gene are common genetic causes of β-ketothiolase deficiency.

Analysis of clinical features and genetic variant in a neonate with Au-Kline syndrome due to a de novo variant of the HNRNPK gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic basis of a neonate with Au-Kline syndrome (AKS).@*METHODS@#Clinical data and result of genetic testing of a neonate with AKS who was admitted to the Affiliated Provincial Children's Hospital of Anhui Medical University in January 2021 were retrospectively analyzed. Relevant literature was searched from the Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed databases using key words "Au Kline syndrome", "Au-Kline syndrome", "HNRNPK" and "AKS". The research period was set as from January 1, 2000 to December 31, 2020.@*RESULTS@#The male newborn has manifested feeding difficulties, hypotonia, absence of the upper jaw to the uvula and facial dysmorphism. Trio-whole exome sequencing revealed that he has harbored a frameshift c.478dupA (p.Ile160AsnfsTer7) variant of the HNRNPK gene, which was varified by Sanger sequencing to have a de novo origin. The variant has not been included in the databases. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting). Literature retrieval has identified 14 children with AKS and de novo mutations of the HNRNPK gene. Their clinical manifestations have included growth and motor retardation, various degree of mental retardation, facial dysmorphism and a high frequency of congenital heart malformations.@*CONCLUSION@#The AKS in this child may be attributed to the c478dupA frameshifting variant of the HNRNPK gene. Diagnosis of AKS should be suspected for children with mental retardation and multiple congenital malformation syndromes including Kabuki syndrome.

Huangdi Anxiao Capsules-containing serum protects cell model from cognitive dysfunction in diabetes via inhibiting NLRP3-mediated pyroptosis / 中国中药杂志

This study aims to investigate the effects and the molecular mechanism of Huangdi Anxiao Capsules(HDAX)-containing serum in protecting the rat adrenal pheochromocytoma(PC12) cells from diabetes-associated cognitive dysfunction induced by high glucose and whether the mechanism is related to the regulation of NOD-like receptor thermal protein domain associated protein 3(NLRP3)-mediated pyroptosis. The PC12 cell model of diabetes-associated cognitive dysfunction induced by high glucose was established and mcc950 was used to inhibit NLRP3. PC12 cells were randomized into control, model, HDAX-containing serum, mcc950, and HDAX-containing serum+mcc950 groups. Methyl thiazolyl tetrazolium(MTT) assay was employed to determine the viability, and Hoechst 33258/PI staining to detect pyroptosis of PC12 cells. Enzyme-linked immunosorbent assay(ELISA) was employed to measure the levels of interleukin-1 beta(IL-1β) and IL-18. Western blot was employed to determine the protein levels of postsynaptic density protein 95(PSD-95), NLRP3, apoptosis-associated speck-like protein containing a CARD(ASC), gasdermin D(GSDMD), GSDMD-N, and cleaved cysteinyl aspartate specific proteinase-1(caspase-1), and RT-PCR to determine the mRNA levels of NLRP3, ASC, GSDMD, and caspase-1. The immunofluorescence assay was adopted to measure the levels and distribution of NLRP3 and GSDMD-N in PC12 cells. Compared with the control group, the model group showed decreased cell proliferation, increased PI positive rate, down-regulated protein level of PSD-95, up-regulated protein levels of NLRP3, ASC, GSDMD-N, GSDMD, and cleaved caspase-1, up-regulated mRNA levels of NLRP3, ASC, GSDMD, and caspase-1, and elevated levels of IL-1β and IL-18. Compared with the model group, HDAX-containing serum, mcc950, and the combination of them improved cell survival rate and morphology, decreased the PI positive rate, down-regulated the protein levels of NLRP3, ASC, GSDMD-N, GSDMD, and cleaved caspase-1 and the mRNA levels of NLRP3, ASC, GSDMD, and caspase-1, and promoted the secretion of IL-1β and IL-18. The findings demonstrated that HDAX-containing serum can inhibit the pyroptosis-mediated by NLRP3 and protect PC12 cells from the cognitive dysfunction induced by high glucose.

Chinese expert consensus on emergency surgery for severe trauma and infection prevention during corona virus disease 2019 epidemic (version 2023) / 中华创伤杂志

During coronavirus disease 2019 epidemic, the treatment of severe trauma has been impacted. The Consensus on emergency surgery and infection prevention and control for severe trauma patients with 2019 novel corona virus pneumonia was published online on February 12, 2020, providing a strong guidance for the emergency treatment of severe trauma and the self-protection of medical staffs in the early stage of the epidemic. With the Joint Prevention and Control Mechanism of the State Council renaming "novel coronavirus pneumonia" to "novel coronavirus infection" and the infection being managed with measures against class B infectious diseases since January 8, 2023, the consensus published in 2020 is no longer applicable to the emergency treatment of severe trauma in the new stage of epidemic prevention and control. In this context, led by the Chinese Traumatology Association, Chinese Trauma Surgeon Association, Trauma Medicine Branch of Chinese International Exchange and Promotive Association for Medical and Health Care, and Editorial Board of Chinese Journal of Traumatology, the Chinese expert consensus on emergency surgery for severe trauma and infection prevention during coronavirus disease 2019 epidemic ( version 2023) is formulated to ensure the effectiveness and safety in the treatment of severe trauma in the new stage. Based on the policy of the Joint Prevention and Control Mechanism of the State Council and by using evidence-based medical evidence as well as Delphi expert consultation and voting, 16 recommendations are put forward from the four aspects of the related definitions, infection prevention, preoperative assessment and preparation, emergency operation and postoperative management, hoping to provide a reference for severe trauma care in the new stage of the epidemic prevention and control.

A qualitative study on self-harm experience of adolescents with mental disorders under environmental function model / 中国实用护理杂志

Objective:To deeply understand the psychological experience of self-harm in adolescent patients with mental disorder under environmental function model, and to provide reference for the formulation of nursing intervention measures for adolescent patients with mental disorder.Methods:Descriptive phenomenology was used to conduct in-depth interviews with 14 adolescent patients with mental disorders in Wuhan Mental Health Center From February to May 2021. The interview data were analyzed by Colaizzi′s seven-step analysis method.Results:There were 4 themes and 12 sub-themes: cognitive bias of self-harming behavior; psychological and emotional complexity: self-denial and self-loathing, pain, despair, satisfaction and comfort, shame, stigma, guilt; the causes of self-harm: family factors, school factors, personality factors and psychiatric symptoms factors; insufficient self-management ability: insufficient emotional management ability, low medication compliance, low self-efficacy.Conclusions:The self-harm behavior of adolescent mental disorder patients is not optimistic, the psychological and emotional burden is heavy, and the self-management ability is insufficient, so the intervention and prevention of self-harm behavior should be further strengthened.

Analysis on mechanisms of Jindan Tablets, Xiaoyan Lidan Tablets and ursodeoxycholic acid in the treatment of gallstones and cholecystitis based on network pharmacology / 国际中医中药杂志

Objective:To analyze the mechanism of Jindan Tablets, Xiaoyan Lidan Tablets and ursodeoxycholic acid in the treatment of gallstone and cholecystitis based on network pharmacology; To conduct a comparative analysis.Methods:The chemical components of Jindan Tablets, Xiaoyan Lidan Tablets and ursodeoxycholic acid and their drug targets were collected from Traditional Chinese Medicine Database and Analysis Platform (TCMSP). DAVID 6.8 database was used to search for the associated diseases of the drug targets. The disease targets of gallstone and cholecystitis were collected from GeneCards and other databases. The protein-protein interactions network was established based on the intersecting targets of three drugs and two diseases. KEGG enrichment analysis was performed based on the DAVID 6.8 database. Cytoscape 3.7.1 software was used to construct a complex network and topology analysis of component- target- disease between three drugs and diseases.Results:222 chemical components and 3 133 drug targets were collected for Jindan Tablets. 104 chemical components and 1 425 action targets were collected for Xiaoyan Lidan Tablets. 1 chemical component and 119 action targets were collected for ursodeoxycholic acid. The three drugs were associated with 31 diseases. 1 382 disease targets for gallstones and cholecystitis were collected. There were 237, 163 and 33 targets for gallstones and cholecystitis in the three drugs, of which 17 were shared by the three drugs and 20 were shared by Jindan Tablets and Xiaoyan Lidan Tablets. Based on the DAVID database, 113, 74 and 10 significant KEGG enrichment pathways were obtained for the three drugs respectively.Conclusions:The three drugs shared many targets and pathways in the treatment of gallstones and cholecystitis, which all had the function of regulating metabolism and inhibiting inflammatory response, while participating in apoptosis, oxidative stress and cancer pathology process. However, they had their own special effects, with Jindan Tablets favoring involving in the cancer process and inhibition of inflammation, and promoting angiogenesis. Xiaoyan Lidan Tablets and ursodeoxycholic acid focused on regulating cholesterol metabolism, and Xiaoyan Lidan Tablets also regulated steroid metabolism and inhibit inflammation, while ursodeoxycholic acid regulated bile acid metabolism.

Influence of SOX7 gene methylation on the proliferation, migration and invasion of renal cancer cells and its clinical value / 国际生物医学工程杂志

Objective:To study the clinical value of SRY-Box transcription factor 7 ( SOX7) gene methylation in renal cancer and its effect on the biological behavior of renal cancer cells. Methods:80 patients with renal cancer (the kidney cancer group) and 50 patients with benign renal disease (the control group) were selected as the research subjects. Synthetic oligonucleotide sequences (MON, UMON, and CON) were designed and transfected into A498 renal carcinoma cells. Methyl-specific PCR was used to detect the methylation status of the SOX7 gene in the tumor and adjacent tissue of the kidney cancer group as well as in the renal tissue of the control group. The relationship between SOX7 gene methylation and clinicopathological factors was analyzed. The migration and invasion of A498 renal cancer cells in the MON group, UMON group, and CON group were detected by the Transwell chamber. Results:The SOX7 gene methylation rate in tumor tissue of the kidney cancer group was significantly higher than that of the control group and the adjacent tissue, and the difference was statistically significant (χ 2 = 67.522, P < 0.05). The SOX7 gene is methylated in renal cancer cell lines such as Caki-1, 786-O, 769-P, while it is unmethylated in A498 renal cancer cells. There were no statistical differences in the SOX7 gene methylation rate in the tumor tissue of the renal cancer group in terms of gender, age, or pathological type (all P > 0.05). There were statistical differences in the degree of differentiation, maximum tumor diameter, lymph node metastasis, tumor number, and TNM staging in the renal cancer group in terms of tumor tissue SOX7 gene methylation rate (all P < 0.05). After transfection with MON, the SOX7 gene methylation of A498 renal cancer cells could be successfully induced, and the day-1 to day-7 cell viability, cell migration, and invasion numbers of A498 renal cancer cells in the MON group were significantly higher than those in the UMON group and the CON group ( P < 0.05). Conclusions:Hypermethylation of the SOX7 gene can promote the proliferation, migration, and invasion of renal cancer cells and has important clinical value in the evaluation of the disease and prognosis of renal cancer.

Efficacy Evaluation of Apparent Diffusion Coefficient in the Treatment of Uterine Fibroid by Magnetic Resonance Guided Focused Ultrasound Surgery / 中山大学学报(医学科学版)

ObjectiveTo assess the value of apparent diffusion coefficient （ADC） in the treatment of uterine fibroid using magnetic resonance guided focused ultrasound surgery （MRgFUS）. MethodsThe MRI and clinical data of 56 patients with uterine fibroid before， at 3 and 6 months after MRgFUS treatment， at Foshan Hospital of Traditional Chinese Medicine from December 2018 to October 2022， were retrospectively analyzed. The correlation between the ADC value and lesion volume， symptoms severity score （SSS） and uterine fibroid symptoms quality of life questionnaire （UFS-QOL） were analyzed. ANOVA was used to compare the differences in related parameters before and after treatment， and Pearson’s method was performed to analyze data correlation. ResultsThere were significant differences in ADC value ［（1.11±0.13）， （1.84±0.09）， （2.12±0.24），×10-3/（mm2/s）］， lesion volume （102±35.30， 56.70±18.88， 46.93±18.99，cm3）， SSS （36.73±11.74， 21.77±10.21， 17.66±9.30） and UFS-QOL score （59.05±17.48， 76.54±16.50， 82.46±12.37） between before treatment and each time point after treatment （F value was 557.837， 73.589， 53.976 and 37.606， respectively， all P<0.05）. The ADC values were negatively correlated with lesion volume and SSS， and positively correlated with UFS-QOL score， with correlation coefficients of -0.586， -0.630 and 0.592， respectively （all P<0.05）. ConclusionThe ADC value has clinical significance for the treatment of uterine fibroid using MRgFUS.

Clinical efficacy and influencing factors of 125I seeds implantation in the treatment of patients with advanced lung cancer after radiotherapy and chemotherapy / 中华核医学与分子影像杂志

Objective:To investigate the clinical efficacy and prognostic factors of 125I seeds implantation in the treatment of patients with advanced lung cancer after radiotherapy and chemotherapy. Methods:From January 2017 to December 2019, 44 patients (39 males, 5 females, age 41-84 years) with advanced lung cancer after radiotherapy and chemotherapy who received 125I seeds implantation in Hebei General Hospital were retrospectively analyzed. All patients were followed up for ≥12 months, and the clinical efficacies were observed. χ2 test was used to analyze the difference of effective rates between groups. The cut-off value of postoperative dose delivered to 90% gross tumor volume ( D90) was obtained by ROC curve analysis. Kaplan-Meier method was used to calculate the survival rate and log-rank test was used for univariate analysis. Cox proportional hazards model was used for multivariate analysis to find the influencing factors for clinical efficacy. Results:The total effective rate was 72.73%(32/44) after 6 months treatment. The cut-off value of D90 was 120 Gy with the AUC of 0.771. The short-term effective rate of D90≥120 Gy group was better than that of D90<120 Gy group (18/19 vs 56.00%(14/25); χ2=8.17, P=0.004). The 1-year survival rate was 77.27%(34/44). Univariate analysis showed that age ( χ2=3.99, P=0.046), preoperative Hb ( χ2=10.60, P=0.001), tumor maximum diameter ( χ2=11.50, P=0.001) and postoperative D90( χ2=5.81, P=0.016) could affect the survival of patients. Multivariate analysis showed that preoperative Hb (hazard ratio ( HR)=0.023, 95% CI: 0.001-0.882, P=0.043) and tumor maximum diameter ( HR=40.889, 95% CI: 1.458-1 146.586, P=0.029) were prognostic factors. Conclusions:125I seeds implantation shows a good effect in the treatment of lung cancer patients after the progress of radiotherapy and chemotherapy. The short-term effect of patients with D90≥120 Gy is better than that of patients with D90<120 Gy. Preoperative Hb and tumor maximum diameter are prognostic factors of survival after implantation.

Prevention and risk factors analysis of lower extremity deep vein thrombosis after high tibial osteotomy / 中华骨科杂志

Objective:To investigate the prevention and risk factors of deep vein thrombosis (DVT) in the lower extremity after medial open wedge high tibial osteotomy (HTO).Methods:A total of 128 patients who underwent medial open wedge HTO in the Third Hospital of Hebei Medical University from January 2020 to October 2022 were retrospectively analyzed, including 45 males and 83 females, aged 59.3±6.8 years (range, 44-87 years). Postoperative anticoagulation with enoxaparin sodium was applied at a randomized dose of 4,000 AXaIU/d or 6,000 AXaIU/d. Gender, age, history of chronic diseases (hypertension, diabetes), smoking history, body mass index, and body fat percentage were collected. On admission, the risk of DVT was assessed using the Caprini scale and calf circumference was measured. Hemoglobin, D-dimer, antithrombin III, activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen (FIB), fibrinogen degradation products (FDP), glutathione, glutathione, urea, creatinine, uric acid were recorded. Patients were divided into DVT group and non-DVT group according to whether DVT occurred after operation. Binary logistic regression was used to analyze the independent risk factors of DVT after HTO. The receiver operating characteristic (ROC) curve was plotted, and the area under curve (AUC) was calculated to analyze the predictive value of the postoperative Caprini scale in the occurrence of DVT after HTO.Results:A total of 128 patients were enrolled, 83 patients were treated with enoxaparin sodium 4 000 AXaIU/d and 45 patients were treated with enoxaparin sodium 6 000 AXaIU/d. According to the results of color Doppler examination of bilateral lower extremity veins on the third day after operation, DVT occurred in 39% (50/128) of patients, including 39 cases of calf intermuscular thrombosis, 6 cases of peroneal vein thrombosis, 4 cases of posterior tibial vein thrombosis, and 1 case of popliteal vein thrombosis. DVT occurred in 36% (30/83) of patients receiving 4 000 AXaIU/d enoxaparin sodium and 44% (20/45) of patients receiving 6 000 AXaIU/d enoxaparin sodium, with no statistically significant difference (χ 2=0.84, P=0.358). Univariate analysis showed that smoking history, postoperative Caprini scale≥8, and female may be associated with the development of DVT after HTO ( P<0.05). They were included in the binary logistic regression, and the results showed that postoperative Caprini scale≥8 was an independent risk factor for DVT after HTO. The ROC curve of postoperative Caprini scale for predicting DVT after HTO was drawn, and the AUC was 0.847 (95% CI: 0.73, 0.96), the optimal cut-off value was 8, and the sensitivity and specificity were 84.2% and 77.6%, respectively. Conclusion:Caprini scale≥8 is an independent risk factor for DVT after medial open wedge HTO. Caprini scale has a good value in predicting the occurrence of DVT after HTO. The recommended dose of enoxaparin sodium is 4 000 AXaIU/d for the prevention of postoperative DVT, and increasing the dose is not associated with a decreased risk of DVT.

Zuogui Pills and Yougui Pills in differential treatment of diminished ovarian reserve based on metabolomics / 中国中药杂志

Based on the metabolomics, this paper systematically analyzed the metabolic substance basis of Zuogui Pills and Yougui Pills in syndrome differentiation and treatment of diminished ovarian reserve(DOR), so as to provide a scientific basis for the traditional Chinese medicine(TCM) syndrome differentiation and treatment of DOR. Patients with DOR of kidney-Yin deficiency syndrome were collected from outpatient department of hospitals and treated with Zuogui Pills for 12 weeks. And kidney-Yang deficiency syndrome were treated with Yougui Pills for 12 weeks. Based on the non-targeted metabolomic research techniques, the potential biomarkers of Zuogui Pills and Yougui Pills in the treatment of DOR with kidney-Yin deficiency and kidney-Yang deficiency, respectively, were screened out, and metabolic pathways of biomarkers were analyzed. The pregnancy rate, basic serum hormone levels [basal follicle-stimulating hormone(bFSH), basal-luteinizing hormone(bLH), basal-estradiol(bE_2), and anti-Müllerian hormone(AMH)], TCM syndrome type score, and Kupperman score were recorded and statistically analyzed after treatment. The results showed that 23 patients with DOR of kidney-Yin deficiency syndrome and 25 patients of kidney-Yang deficiency syndrome were collected. Twenty-six differential metabolites, including L-carnitine, acetyl-CoA, coenzyme A, and coenzyme Q_(10)(CoQ10), were mapped to 12 metabolic pathways in patients with kidney-Yin deficiency treated with Zuogui Pills. Twenty-two differential metabolites, such as adipoyl-CoA, L-lysine, lysine arginine, and α-tocopherol, were mapped to 11 metabolic pathways in patients with kidney-Yang deficiency. After treatment, bFSH and bLH of patients with DOR were significantly lower than those before treatment(P<0.05). Although the comparison of bE_2 and AMH had no significant differences, there was a improvement trend. The TCM syndrome type score and Kupperman score of patients with DOR after TCM treatment were significantly lower than those before treatment(P<0.05).

BCS1Neonatal growth retardation and lactic acidosis initiated by novel mutation sites in L gene / 中华预防医学杂志

This study aims to analyze the clinical characteristics and genetic variations of two cases with developmental delay and lactic acidosis in a family, and to explore the relationship between genetic variations and clinical features. A retrospective analysis was conducted on the clinical characteristics of two siblings with developmental delay and lactic acidosis who were treated at the Neonatal Department of Children's Hospital of Chongqing Medical University in May 2019 and December 2021, respectively. Whole-exome sequencing was used to detect genetic variations in the affected children. Homology modeling of the BCS1L protein was performed to analyze the structural and functional changes of the protein. The correlation between genetic variations and clinical phenotypes was analyzed. The results showed that the main clinical features of the two affected children in this family were manifestations of mitochondrial respiratory chain complex Ⅲ deficiency, including prematurity, developmental delay, respiratory failure, lactic acidosis, cholestasis, liver dysfunction, renal tubular lesions, coagulation dysfunction, anemia, hypoglycemia, hypotonia, and early death. Whole-exome sequencing revealed a novel deletion mutation c.486_488delGGA (p.E163del) and a novel missense mutation c.992C>T (p.T331I) in the BCS1L gene. Structural analysis of the homology modeling showed that the compound heterozygous mutation had a significant impact on protein function. In conclusion, the novel mutation site c.992C>T (p.T331I) in the BCS1L gene is a "likely pathogenic" mutation, and the compound heterozygous mutation is closely related to the phenotype of mitochondrial respiratory chain complex Ⅲ deficiency.

Moxibustion combined with western medication for rheumatoid arthritis with blood stasis obstruction and its effect on platelet activation / 中国针灸

OBJECTIVE@#To investigate the clinical efficacy and action mechanism of moxibustion combined with western medication for rheumatoid arthritis (RA) with blood stasis obstruction.@*METHODS@#Fifty-six patients of RA with blood stasis obstruction were randomly divided into an observation group and a control group, with 28 patients in each group. The patients in the control group were treated with oral administration of leflunomide tablets and celecoxib capsules, while the patients in the observation group were treated with moxibustion in addition to the treatment used in the control group. Moxibustion was performed at bilateral Zusanli (ST 36), Shenshu (BL 23), Xuehai (SP 10), and ashi points, once every other day, three times a week. The treatment duration for both groups was 12 weeks. The TCM syndrome score, disease activity score-28 (DAS-28), rheumatoid factor (RF), hypersensitive C-reactive protein (hs-CRP), erythrocyte sedimentation rate (ESR), hemorheological indexes (whole blood viscosity high shear, whole blood viscosity low shear, plasma viscosity), serum calcium ion (Ca2+) level, and platelet count (PLT) were observed before and after treatment, and the clinical efficacy was evaluated after treatment in the two groups.@*RESULTS@#Compared with those before treatment, the TCM syndrome scores, DAS-28 scores, RF, hs-CRP, ESR, whole blood viscosity high shear, whole blood viscosity low shear, plasma viscosity, and PLT were decreased after treatment in both groups (P<0.01), with the observation group showing lower values compared with those in the control group (P<0.05). Compared with those before treatment, the serum Ca2+ levels were increased after treatment in both groups (P<0.01), and the observation group showed a higher increase than that in the control group (P<0.05). The total effective rate was 85.7% (24/28) in the observation group, which was higher than 67.9% (19/28) in the control group (P<0.05).@*CONCLUSION@#Moxibustion combined with western medication could alleviate clinical symptoms in patients with RA of blood stasis obstruction, and its mechanism may be related to the inhibition of platelet activation.

Effect of mentalization-based family therapy on depressive symptoms and non-suicidal self-injury behavior in adolescents with major depressive disorder / 四川精神卫生

BackgroundThe major depressive disorder has high prevalence among adolescents， and non-suicidal self-injury （NSSI） behaviors frequently occur among patients， therefore， major depressive disorder in adolescents has become the researching focus. ObjectiveTo explore the effect of mentalization-based family therapy （MBFT） on depressive symptoms and NSSI behavior in adolescents with major depressive disorder， and to provide references for the rehabilitation of major depressive disorder in adolescents. MethodsA total of 90 adolescent patients with major depression disorder who met the diagnostic criteria of International Classification of Diseases， 10th edition （ICD-10） for depressive disorders and attended Wuhan Mental Health Center from January to December 2022 were selected， and were assigned into study group （n=44） and control group （n=46） using random number table method. All participants received routine intervention， based on this， study group added a 60-minute MBFT intervention once a week for 8 weeks. Before the intervention and at the end of 1st， 2nd，4th and 8th week，the two groups were assessed using Hamilton Depression Scale-24 item （HAMD-24）， General Self-Efficacy Scale （GSES）， Pittsburgh Sleep Quality Index （PSQI） and Ottawa Self-injury Inventory （OSI）. ResultsThe repeated measures analysis of variance reported a statistical main effect of time， main effect of group， and interaction effect between time and group at the baseline and the end of 1st， 2nd， 4th and 8th week of treatment in HAMD-24 score （F=69.621， 15.428， 29.623， P˂0.05）， OSI score （F=176.642， 37.682， 21.873， P˂0.05）， GSES score （F=215.236， 57.421， 27.857， P˂0.05） and PSQI score （F=268.541， 61.863， 33.867， P˂0.05）. Individual effect analysis discovered a statistical difference between study group and control group at the end of 2nd， 4th and 8th week of treatment in HAMD-24 score （t=5.567， 8.645， 6.233， P˂0.01）， OSI score （t=3.675， 11.817， 9.632， P˂0.01）， GSES score （t=23.462， 31.709， 12.750， P˂0.01） and PSQI score （t=9.664， 22.457， 9.333， P˂0.01）. ConclusionMBFT may improve depressive symptoms， NSSI behavior， sleep quality and self-efficacy in adolescents with major depressive disorder. ［Funded by 2022 Natural Science Foundation Project of Hubei Province （number， 2022CFB483）］

Treatments for prolonged disorder of consciousness in recent five years: a visualized analysis / 中国康复理论与实践

ObjectiveTo investigate the current landscape and hotspots on researches about treatment of prolonged disorder of consciousness (pDOC) in the recent five years, and forecast the trends. MethodsLiterature about treatment of pDOC was retrieved from the Web of Science Core Collection database, from January 1st, 2019, to June 7th, 2023. The data were analyzed with CiteSpace 5.8.R3 to create knowledge maps for authors, countries, institutions, keywords, references, co-cited authors and co-cited literature. ResultsA total of 411 articles were included. Aurore Thibaut was the most influential author, Belgium was the most influential country, and Harvard Medical School was the institution with the most publications. The researches focused on neuromodulation, prognostic assessment and care, and management of swallowing function. The neuromodulation techniques mainly included transcranial direct current stimulation, repetitive transcranial magnetic stimulation, deep brain stimulation and transcutaneous auricular vague nerve stimulation. In the coming years, the researches trended to explore neuromodulation and mechanisms of consciousness recovery, and the main neuromodulation techniques might be deep brain stimulation and transcutaneous auricular vague nerve stimulation. ConclusionThe researches about treatment of pDOC are increasing, mainly focusing on neuromodulation, prognostic evaluation, nursing care, and training for swallowing function. More researches would focus on neuromodulation and mechanisms for restoring consciousness.

Association of peer bullying, life satisfaction with self harm among junior high school students / 中国学校卫生

Objective@#To explore the association between adolescent peer bullying, life satisfaction and self-harm, so as to provide intervention support for the prevention of adolescent self-harm behaviors.@*Methods@#In October 2022, 5 724 junior high school students from Xuancheng, Hefei, Huaibei in Anhui Province were selected by multistage stratified random cluster sampling, and a self-administered adolescent mental health behavior questionnaire was used to conduct the survey.@*Results@#The detection rate of peer bullying among adolescents was 30.0%, and the detection rates of the five self-harm behaviors including highly lethal self-harm, less lethal self-harm with visible tissue damage, self-harm without visible tissue damage, self-harm with latency damage, and psychological self-harm were 10.2%, 25.8%, 35.5%, 20.8% and 28.2%, respectively. Logistic regression model results showed a positive association between exposure to peer bullying and the five self-harmful behaviors ( OR =2.52-3.21, P <0.01), and a negative association between life satisfaction and the five self-harmful behaviors ( OR =0.19-0.33, P <0.01). Adolescent life satisfaction had a moderating effect between exposure to peer bullying and highly lethal self-harm, less lethal self-harm with visible tissue damage, self-harm without visible tissue damage, and self-harm with latency damage ( OR=1.53, 1.42, 1.30, 1.39, P <0.05), and no moderating effect between exposure to peer bullying and psychological self-harm ( P >0.05).@*Conclusion@#Peer bullying among adolescents may increase the risk of self-harm behavior. Improvement of life satisfaction can effectively mitigate the negative effects of peer bullying on adolescent self-harm.

Effects of miRNA-30a-5p and metadherin on proliferation, invasion and migration abilities of breast cancer cells / 肿瘤研究与临床

Objective:To investigate the effects of miRNA-30a-5p (miR-30a-5p) and metadherin (MTDH) on the proliferation, invasion and migration abilities of human breast cancer cells in vitro.Methods:The expression of MTDH in cancer and paracancerous tissues of 112 breast cancer patients in the database and miR-30a-5p in cancer and paracancerous tissues of 103 breast cancer patients in the database were analyzed using data from The Cancer Genome Atlas (TCGA) database. Pearson correlation analysis was used to analyze the correlation between miR-30a-5p and MTDH in 1 222 breast cancer patients in the database; the data were updated to August 2022. Breast cancer MDA-MB-231 cells were divided into negative control group (transfected with negative control sequence), miR-30a-5p overexpression group (transfected with miR-30a-5p mimics), siMTDH group [transfected with small interfering RNA against MTDH (siMTDH)], siMTDH+miR-30a-5p overexpression group (transfected with both siMTDH and miR-30a-5p mimics); cell proliferation ability was detected by methyl thiazol tetrazolium (MTT) assay, cell migration ability was detected by cell scratch assay, cell invasion ability was detected by Transwell assay. The relative expressions of miR-30a-5p, MTDH, matrix metalloproteinase (MMP)-2, MMP-9, vimentin and β-catenin mRNA in cells were detected by quantitative real-time fluorescence polymerase chain reaction (qRT-PCR), and the expressions of MTDH, N-cadherin (N-cad), β-catenin, Snail and MMP-9 proteins were detected by Western blotting.Results:In the TCGA database, MTDH expression level was higher and miR-30a-5p expression level was lower in breast cancer tissues compared with paracancerous tissues, and the differences were statistically significant (both P < 0.001). There was a negative correlation between MTDH and miR-30a-5p expressions in 1 222 patients with breast cancer ( r=-0.134, P < 0.001). Compared with the negative control group, the cell proliferation ability was reduced in both siMTDH group and miR-30a-5p overexpression group at 24, 48 and 72 h (all P < 0.001). The cell scratch healing rate in miR-30a-5p overexpression group and siMTDH group was lower than that in negative control group [(61.6±1.6)%, (54.7±5.9)% vs. (80.3±3.0)%] (both P < 0.05). Compared with the negative control group, The number of migrated cells in miR-30a-5p overexpression group and siMTDH group was less than that in negative control group (881±50, 725±63 vs. 1 172±66) (both P < 0.05). Compared with the negative control group, the relative expressions of MMP-2, MMP-9, vimentin and β-catenin mRNA were all down-regulated in MDA-MB-231 cells of miR-30a-5p overexpression group and siMTDH group (all P < 0.05). Compared with the negative control group, the relative expressions of N-cad, β-catenin, Snail and MMP-9 proteins were down-regulated in MDA-MB-231 cells of miR-30a-5p overexpression group and siMTDH group (all P < 0.05). There was no statistical difference in the number of migrated MDA-MB-231 cells between siMTDH+miR-30a-5p overexpression group and siMTDH group (476±5 vs. 389±46, t = 3.37, P = 0.078). There was no statistical difference in the number of migrated cells between siMTDH+miR-30a-5p overexpression group and miR-30a-5p overexpression group (476±5 vs. 477±22, t = 0.02, P = 0.983). Conclusions:The expression of miR-30a-5p is negatively correlated with the expression of MTDH in breast cancer tissues, and either overexpression of miR-30a-5p or silence of MTDH in breast cancer MDA-MB-231 cells in vitro can inhibit cell proliferation, invasion and migration, but MTDH may not be a target gene of miR-30a-5p.

Optic neuritis in Guillain-Barré syndrome: a case report and literature review / 中华神经科杂志

Objective:To summarize the clinical characteristics of patients with Guillain-Barré syndrome (GBS) complicated with optic neuritis (ON).Methods:The clinical data of a patient with GBS complicated with ON, who admitted to the Department of Neurology, the First Hospital of Shanxi Medical University in December 2021, were collected, including demographic characteristics, clinical symptoms and signs, laboratory and electrophysiological data, and results of fundus color films. The patients with GBS complicated with ON reported in the literature were also reviewed.Results:A 40-year-old female patient with GBS was diagnosed by the results of electromyography and cerebrospinal fluid tests combining with the history and signs, who was treated with intravenous immunoglobulin on the 3rd day after onset. On the 8th day, her muscle strength improved significantly. However, on the 12th day, the visual field darkened, and on the 19th day, the vision decreased significantly (oculus dexter visual acuity 0.2, oculus sinister visual acuity 0.1 +1) with bilateral papilloedema, a relative afferent pupillary defect and delayed P100 response of the visual evoked potential. Obvious abnormality was not noted in optic nerve magnetic resonance imaging. Thus ON was diagnosed and treated with pulse methylprednisolone therapy. After 8 days of treatment, the visual acuity was completely recovered and there was no abnormality in the ocular fundus. A total of 28 cases of GBS complicated with ON (including the present patient) were reported in the literature. The age of onset was mostly 20-60 years, and there was no gender preference. Mycoplasma pneumoniae was the most common premorbid pathogen and was identified in 7 of the 10 cases in which the causative agent was described. ON usually involved both sides, and 21 of 28 patients had bilateral optic nerves involved. GBS preceded ON or both occurred simultaneously in the majority of patients; GBS preceded ON in 14 of 28 patients, and both occurred simultaneously in 10 of 28 patients. All patients responded well to immunotherapy, and vision was completely recovered in 20 patients. Conclusions:GBS complicated with ON is rare. Attention should be paid to the loss of vision in patients with GBS. Relevant examinations should be completed as soon as possible and immunotherapy should be given.

Anti-neurofascin 186 antibody associated acute immune sensory polyradiculopathy: a case report and review of literature / 中华神经科杂志

Objective:To describe the clinical features of a patient of anti-neurofascin 186 (NF186) antibody associated acute immune sensory polyradiculopathy (AISP), and enhance understanding of AISP/chronic immune sensory polyradiculopathy (CISP).Methods:The clinical characteristics, diagnosis and treatment of a domestic AISP patient with NF186 antibody positive admitted to the First Hospital of Shanxi Medical University in December 2021 were summarized, and the previously reported cases of AISP/CISP were systematically reviewed.Results:The patient was a 62-year-old male with acute onset. The clinical manifestations included severe sensory ataxia, increased protein in cerebrospinal fluid, no response to stimulation of the central segment of somatosensory evoked potentials (SEP), normal sensory and motor nerve conduction, and positive serum anti-NF186 antibody (1∶32). After glucocorticoid treatment, the clinical symptoms and SEP were significantly improved. The drug was stopped for 2 months, and there was no recurrence. There were 23 cases of AISP and CISP with complete data reported in the literature (including this patient). The age of onset was (54.7±17.7) years, and the ratio of male to female was 1.88. Three patients with acute onset were classified as AISP. A total of 95.7% (22/23) of patients showed sensory ataxia without limb weakness, 95.0% (19/20) of patients showed prolonged cortical potential latency or even no response, and 95.5% (21/22) of patients showed increased cerebrospinal fluid protein in varying degrees, and nerve root thickening or abnormal enhancement was not common. All 10 patients receiving immunotherapy responded to corticosteroids or intravenous immune globulin. Only 6 AISP/CISP articles reported screening for anti-ganglioside antibodies or Ranvier′s node-paranodal region-related antibodies, and no positive NF186 antibodies were reported. All the 3 patients with AISP had some characteristics of CISP/chronic inflammatory demyelinating polyradiculoneuropathy, and there was no significant difference between AISP and CISP patients in clinical features except the mode of onset.Conclusions:NF186 antibody could cause AISP, which presents as acute onset sensory ataxia. AISP is responsive to glucocorticoid therapy. Except for the mode of onset, AISP and CISP are difficult to distinguish from clinical, electrophysiological, pathological aspects and pathogenic antibodies, so they may be two different manifestations of the same disease.