1.Progress on the diagnosis and treatment of hereditary skeletal muscle ion channelopathies
Journal of Apoplexy and Nervous Diseases 2025;42(5):401-408
Hereditary skeletal muscle ion channelopathies are a group of heterogeneous hereditary diseases caused by mutations in the skeletal muscle ion channel genes.According to clinical manifestations, hereditary skeletal muscle channelopathies are classified into two major categories:non-dystrophic myotonia and periodic paralysis. Non-dystrophic myotonia includes myotonia congenita, paramyotonia congenita, and sodium channel myotonia. Periodic paralysis includes hypokalemic type, normal serum potassium type, hyperkalemic type, and Andersen-Tawil syndrome. Because of an overlap between non-dystrophic myotonia and periodic paralysis in clinical phenotype and molecular mechanism, a few patients can simultaneously exhibit the phenotypes of both conditions, indicating that hereditary skeletal muscle channelopathies are a continuity in the clinical spectrum. This article reviews the classifications, clinical manifestations, diagnostic criteria, genetic pathological types, pathogenic mechanisms, and treatment approaches and progress of hereditary skeletal muscle ion channelopathies.
2.The impact of postpartum depression on maternal responsiveness in infant care
Shuzhen LI ; Fang WANG ; Ke WANG ; Su LIU ; Qian WEI ; Qing YANG ; Leilei LIU ; Huijing SHI
Shanghai Journal of Preventive Medicine 2025;37(3):271-275
ObjectiveTo analyze the impact of maternal postpartum depression (PPD) at 2 months postpartum on caregiving for infants aged2 to 24 months, and to provide a scientific basis for future maternal and infant healthcare services. MethodsBased on the Shanghai Maternal-Child Pairs Cohort, 1 060 mother-child pairs were selected from those fully participating in follow-up visits at 2, 6, 12, and 24 months postpartum. Pregnancy and childbirth-related information was collected using standardized questionnaire surveys and hospital obstetric and maternity records. The Edinburgh postpartum depression scale was used to assess the maternal postpartum depressive symptoms at 2 months postpartum. At 2, 6, 12, and 24 months postpartum, questionnaire survey was used to evaluate the maternal responsiveness in caregiving and the provision of early learning opportunities for infants. Scores for responsive caregiving and early learning opportunities at 2, 6, 12, and 24 months were grouped based on the 25th percentile (P25) of total scores. The mixed-effects model was used to analyze the longitudinal impact of maternal postpartum depression at 2 months on the caregiving of 2 to 24-month-old infants. ResultsThe longitudinal results from the mixed-effects model did not show an impact of maternal PPD on infant responsive caregiving within 12 months and early learning opportunities within24 months. However, cross-sectional analysis revealed that, compared to the non-PPD group, the risk of low responsive caregiving at 2 months in the PPD group was 93% higher (OR=1.931, 95%CI: 1.113‒3.364, P=0.019). The risks for low provision of early learning opportunities at2 months and 24 months increased by 59% (OR=1.589, 95%CI: 1.082‒2.324, P=0.017) and 60% (OR=1.598, 95%CI:1.120‒2.279, P=0.010), respectively. ConclusionMaternal postpartum depression increases the risk of low responsive caregiving at 2 months, but its long-term effects warrant further research.
3.The Invariant Neural Representation of Neurons in Pigeon’s Ventrolateral Mesopallium to Stereoscopic Shadow Shapes
Xiao-Ke NIU ; Meng-Bo ZHANG ; Yan-Yan PENG ; Yong-Hao HAN ; Qing-Yu WANG ; Yi-Xin DENG ; Zhi-Hui LI
Progress in Biochemistry and Biophysics 2025;52(10):2614-2626
ObjectiveIn nature, objects cast shadows due to illumination, forming the basis for stereoscopic perception. Birds need to adapt to changes in lighting (meaning they can recognize stereoscopic shapes even when shadows look different) to accurately perceive different three-dimensional forms. However, how neurons in the key visual brain area in birds handle these lighting changes remains largely unreported. In this study, pigeons (Columba livia) were used as subjects to investigate how neurons in pigeon’s ventrolateral mesopallium (MVL) represent stereoscopic shapes consistently, regardless of changes in lighting. MethodsVisual cognitive training combined with neuronal recording was employed. Pigeons were first trained to discriminate different stereoscopic shapes (concave/convex). We then tested whether and how light luminance angle and surface appearance of the stereoscopic shapes affect their recognition accuracy, and further verify whether the results rely on specify luminance color. Simultaneously, neuronal firing activity of neurons was recorded with multiple electrode array implanted from the MVL during the presentation of difference shapes. The response was finally analyzed how selectively they responded to different stereoscopic shapes and whether their selectivity was affected by the changes of luminance condition (like lighting angle) or surface look. Support vector machine (SVM) models were trained on neuronal population responses recorded under one condition (light luminance angle of 45°) and used to decode responses under other conditions (light luminance angle of 135°, 225°, 315°) to verify the invariance of responses to different luminance conditions. ResultsBehavioral results from 6 pigeons consistently showed that the pigeons could reliably identify the core 3D shape (over 80% accuracy), and this ability wasn’t affected by changes in light angle or surface appearance. Statistical analysis of 88 recorded neurons from 6 pigeons revealed that 83% (73/88) showed strong selectivity for specific 3D shapes (selectivity index>0.3), and responses to convex shapes were consistently stronger than to concave shapes. These shape-selective responses remained stable across changes in light angle and surface appearance. Neural patterns were consistent under both blue and orange lighting. The decoding accuracy achieves above 70%, suggesting stable responses under different conditions (e.g., different lighting angles or surface appearance). ConclusionNeurons in the pigeon MVL maintain a consistent neural encoding pattern for different stereoscopic shapes, unaffected by illumination or surface appearance. This ensures stable object recognition by pigeons in changing visual environments. Our findings provide new physiological evidence for understanding how birds achieve stable perception (“invariant neural representations”) while coping with variations in the visual field.
4.Study on anti-myocardial ischemia active components and mechanism of Xinkeshu tablets based on network pharmacology and zebrafish model
Lin-Hua HOU ; Hua-Zheng ZHANG ; Shuo GAO ; Yun ZHANG ; Qiu-Xia HE ; Ke-Chun LIU ; Chen SUN ; Jian-Heng LI ; Qing XIA
Chinese Pharmacological Bulletin 2024;40(5):964-974
Aim To study the active ingredients and mechanism of action of Xinkeshu tablets against myo-cardial ischemia by network pharmacology and ze-brafish model.Methods The anti-myocardial ische-mia activity of Xinkeshu tablets was evaluated by iso-prenaline hydrochloride(ISO)-induced zebrafish myo-cardial ischemia model and H2O2-induced H9c2 dam-age model.The active ingredients of Xinkeshu tablets were retrieved using databases such as TCMSP.The potential targets were predicted by PharmaMapper data-base.Myocardial ischemic disease targets were searched by OMIM database.The potential therapeutic targets of Xinkeshu tablets against myocardial ischemia were analyzed.GO and KEGG enrichment analysis were conducted on core targets.The active ingredients were verified by zebrafish and cell model.qRT-PCR was used to detect the expression of key targets.Re-sults Xinkeshu tablets could significantly alleviate ISO-induced pericardial edema and bradycardia.It al-so could increase sinus venous-bulb aortic(SV-BA)distance and improve the cell viability.The 30 poten-tial active ingredients of Xinkeshu tables mainly acted on 30 core targets,including ALB,AKT1 and MAPK1,to regulate 627 GO items,including protein phosphorylation,negative regulation of apoptosis and positive regulation of PI3K signal transduction.KEGG results showed that 117 signaling pathways,including PI3K/Akt,FOXO and Ras,exerted anti-myocardial ischemia effect.Salvianolic acid A,lithospermic acid,rosmarinic acid,salvianolic acid D,salvianolic acid B,ginsenoside Rg2,hyperoside,3'-methoxypuerarin,3'-hydroxypuerarin and ginsenoside Rg1 could alleviate ISO-induced zebrafish myocardial ischemia and im-prove the cell viability.Xinkeshu tablets could upregu-late the expression of genes such as ras and akt1,and downregulate the expression of genes such as mapk1 and mapk8.Conclusion The active ingredients,in-cluding salvianolic acid A in Xinkeshu tablets,exert anti-myocardial ischemia effects by targeting targets,such as AKT1,MAPK1,and regulating signaling path-ways,such as PI3K/Akt,MAPK and Ras.
5.The inhibitory effect of artesunate on hepatocellular carcinoma cells by regulating expression of GADD45A and NACC1
Guan-Tong SHEN ; Jin-Yao DONG ; Jing FENG ; Nan QIN ; Gen-Lai DU ; Fei ZHU ; Ke LIAN ; Xin-Yu LIU ; Qing-Liang LI ; Xun-Wei ZHANG ; Ru-Yi SHI
Chinese Pharmacological Bulletin 2024;40(6):1089-1097
Aim To explore the effect and mechanism of the artesunate(ART)on hepatocellular carcinoma(HCC).Methods The cell lines MHCC-97H and HCC-LM3 were used to be detected.MTT and clone formation were used to determine the cell proliferation;Wound healing was used to detect the cell migration;Transwell was used to test the cell invasion.Flow-cy-tometry was used to detect cell apoptosis and cell cy-cle.RNA-seq and qRT-PCR was used to detect the genes expression.Results The proliferation,migra-tion and invasion of treated cells were obviously inhibi-ted(P<0.01).Moreover,the apoptosis rate in-creased significantly,so did the proportion of G2/M cells.Transcriptomic analysis identified GADD45A as a potential target of ART through RNA-sequencing da-ta,and suggested that ART might induce apoptosis and cell cycle arrest through regulating the expression of GADD45A.In addition,the results of mechanism studies and signaling analysis suggested that GADD45A had interaction with its upstream gene NACC1(nucle-us accumbens associated 1).Moreover,after ART treatment,the expressions of GADD45A and NACC1 were changed significantly.Conclusion ART may be a potential drug to resist HCC by affecting the expres-sion of GADD45A and its upstream gene NACC1,which provides a new drug,a new direction and a new method for the clinical treatment of HCC.
6.A nomogram for predicting residual back pain after percutaneous vertebroplasty for osteoporotic vertebral compres-sion fractures
Jun-Ke LI ; Xu-Bin MA ; Liang LI ; Qing MA ; Xu-Dong WANG
China Journal of Orthopaedics and Traumatology 2024;37(6):553-559
Objective To construct percutaneous vertebroplasty for predicting osteoporotic vertebral compression fractures(OVCFs)nomogram of residual back pain(RBP)after percutaneous vertebroplasty(PVP).Methods Clinical data of 245 OVCFs patients who were performed PVP from January 2020 to December 2022 were retrospectively analyzed,including 47 males and 198 females,aged from 65 to 77 years old with an average of(71.47±9.03)years old,and were divided into RBP group and non-RBP group according to whether RBP occurred.Gender,age,comorbidities,fracture stage,body mass index(BMI),bone mineral density(BMD),visual analogue scale(VAS),Oswestry disability index(ODI)and other general infor-mation were collected;anterior vertebral height(AVH),anterior vertebral height ratio(AVH),anterior vertebral height ratio(AVHR),Cobb angle,intravertebral vacuum cleft(IVC),thoracolumbar fascia(TLF)injury,paravertebral muscle steatosis,injection volume and leakage of bone cement,bone cement dispersion pattern,anterior vertebral height recovery ratio(AVHRR),Cobb angle changes,etc.imaging parameters before operation and 24 h after operation were collected.Univariate analysis was performed to analysis above factors,and multivariate Logistic regression model was used to investigate indepen-dent risk factors for postoperative RBP,and Nomogram model was constructed and verified;receiver operating characteristic(ROC)curve and calibration curve were used to determine predictive performance and accuracy of the model,and Hosmer-Lemeshow(H-L)test was used for evaluation.The area under curve(AUC)of ROC was calculated,and Harrell consistency index(C index)was used to evaluate the predictive efficiency of model;decision curve analysis(DCA)was used to evaluate clinical practicability of model.Results There were 34 patients in RBP group and 211 patients in non-RBP group.There were no significant differences in gender,age,comorbidities,fracture stage,BMI,BMD,VAS,ODI,AVH,AVHR and Cobb angle be-tween two groups(P>0.05).Univariate analysis showed 6 patients occurred IVC in RBP group and 13 patients in non-RBP,the number of IVC in RBP group was higher than that in non-RBP group(x2=5.400,P=0.020);6 patients occuured TLF injury in RBP group and 11 patients in non-RBP group,the number of TLF injury in RBP group was higher than that in non-RBP group(x2=7.011,P=0.008);In RBP group,18 patients with grade 3 to 4 paraptebral steatosis and 41 patients in non-RBP group,RBP group was higher than non-RBP group(x2=21.618,P<0.001),and the proportion of bone cement mass in RBP group was higher than non-RBP group(x2=6.836,P=0.009).Multivariate Logistic regression analysis showed IVC(x2=4.974,P=0.025),TLF in-jury(x2=5.231,P=0.023),Goutallier grade of paravertebral steatosis>2(x2=15.124,P<0.001)and proportion of bone cement(x 2=4.168,P=0.038)were independent risk factors for RBP after PVP.ROC curve of model showed AUC of original model was 0.816[OR=2.862,95%CI(0.776,0.894),P<0.001].The internal verification of model through 200 bootstrap samples showed the value of C index was 0.936,and calibration curve showed predicted probability curve was close to actual probability curve.H-L goodness of fit test results were x2=5.796,P=0.670.DCA analysis results showed the decision curve was above None line and All line when the threshold value ranged from 6%to 71%.Conclusion IVC,TLF combined injury,paravertebral muscle steatosis with Goutallier grade>2,and bone cement diffusion with mass type are independent risk factors for RBP after PVP.The risk prediction model for RBP after PVP established has good predictive performance and good clinical practicability.
7.Species identification of hard ticks and molecular survey of Ana plasma in partial areas of Anhui Province
Xue ZHAO ; Khakhane LERATO ; Wan-Qing LU ; Xin-Yun WU ; Fang-Fei SONG ; Yu XIN ; Ying-Ying ZHANG ; Chen XING ; Ke-Han XU ; Mao-Zhang HE ; Yan LIU
Chinese Journal of Zoonoses 2024;40(4):302-307
The distribution of Ixodes and Ana plasma carried by Ixodes ticks in Anhui Province was clarified as reference for prevention and control of anaplasmosis.In total,630 hard ticks were collected from Jinzhai County,Hanshan County,Jing-de County and Chaohu City in Anhui Province from April to August 2023.Ticks were identified by morphological analysis and 16S rRNA sequencing.Nested PCR with Anaplasma species-specific primers were used to detect 16S rRNA of Anaplasma spe-cies carried by ticks.A phylogenetic tree was constructed using MEGA11.0 software.Of the identified ticks,18.8%(18/96)were Rhipicephalus microplus and 81.2%(78/96)were Haemaphysalis longicorni in Jinzhai County of Anhui Province,all were H.longicorni in Hanshan County and Chaohu City,while the main species in Jingde County was R.microplus.The posi-tive rate of Anaplasma carried by H.longicornis was 30.9%(102/330),which included A.bovis at 1.8%(6/330),A.phagocytophilum at 21.8%(72/330)and uncultured Anaplasma species at 7.3%(24/330).R.microplus was positively cor-related to A.bovis(13.6%,18/132).The uncultured Anaplasma species was mainly detected in host-free ticks.A.phagocy-tophilum was detected in 24.4%of parasitic ticks and 15.8%of host-free ticks.The positive rates of host-free and parasitic ticks were 19.9%and 17.8%,respectively.These results show that H.longicornis and R.microplus were the dominant ticks in several counties of Anhui Province.H.longicornis and R.microplus as well as free and parasitic ticks all carried Anaplas-ma.
8.Effects of Different Nutritional Scoring Systems on Prognosis of Elderly Patients with Multiple Myeloma
Qing-Fen LI ; Qi-Ke ZHANG ; Xiao-Fang WEI ; You-Fan FENG ; Yuan FU ; Yang-Yang ZHAO ; Xiu-Juan HUANG
Journal of Experimental Hematology 2024;32(2):499-504
Objective:To analyze the prognostic nutritional index(PNI),controlling nutritional status(CONUT)and fibrinogen/albumin ratio(FAR)levels in elderly patients with multiple myeloma(MM)and their prognostic impact.Methods:The clinical data of 74 elderly MM patients diagnosed in Gansu Provincial Hospital from January 2020 to July 2022 were retrospectively analyzed.The optimal cut-off values for PNI,CONUT score and FAR were obtained by receiver operating characteristic(ROC)curve,which were used for grouping patients.The correlation of above three indexes with clinical parameters such as sex,serum calcium(Ca),β2-microglobulin(β2-MG),serum creatinine(Cr)in elderly MM patients were analyzed.The survival rates of patients with different levels of each index were compared.Univariate and multivariate analysis of the impact of clinical indicators on the prognosis of patients were performed.Results:The optimal cut-off values for PNI,CONUT score and FAR were 39.775,3.5 and 0.175,respectively,according to which the patients were divided into high and low group.Statistical analysis showed that there were significant differences in albumin level among different groups(all P<0.05).In addition,there was a significant difference in hemoglobin between high-PNI group and low-PNI group(P<0.05),while in sex distribution between high-FAR and low-FAR group(P<0.05).The survival rate of elderly MM patients with increased PNI,decreased CONUT score and FAR was higher(all P<0.05).Univariate and multivariate analysis showed that β2-MG,Cr,PNI,CONUT score and FAR were independent prognostic factors for elderly MM patients.Conclusion:PNI,CONUT score and FAR are related to some clinical indicators of elderly MM patients,and have an impact on the prognosis.
9.Risk Prediction and Risk Factors of Thrombotic/Bleeding Events in Patients with Myeloproliferative Neoplasm
Yang-Yang ZHAO ; You-Fan FENG ; Xiao-Fang WEI ; Qing-Fen LI ; Xiu-Juan HUANG ; Yuan FU ; Qi-Ke ZHANG
Journal of Experimental Hematology 2024;32(4):1165-1172
Objective:To analyze the clinical characteristics and occurrence of thrombotic/bleeding events of patients with myeloproliferative neoplasm(MPN),and explore the main influencing factors,and create a risk prediction.Methods:The clinical data of 126 MPN patients with BCR-ABL fusion gene negative in the Department of Hematology of Gansu Provincial Hospital from January 2016 to September 2021 were collected,and their clinical characteristics,occurrence of thrombotic/bleeding events and main influencing factors were analyzed and summarized retrospectively.Then,a risk prediction model for thrombotic/bleeding events in MPN patients was constructed.Results:Among 126 MPN patients,50 patients(39.7%)had experienced thrombotic/bleeding events,including 44 patients(34.9%)with thrombotic events and 6 patients(4.8%)with bleeding events.Among thrombotic diseases,cerebral thrombosis was the most common(23/44,52.3%),followed by 9 cases of limb artery thrombosis mainly characterized by finger and toe tip artery ischemia,occlusion and gangrene(9/44,20.5%).Bleeding events included intracerebral hemorrhage and gastrointestinal hemorrhage.Univariate analysis showed that hypertension,hyperhomocysteinemia,white blood cell(WBC)≥10 × 109/L,hematocrit(HCT)≥49%,platelet(PLT)≥600 × 109/L and JAK2V617F gene mutation were risk factors for thrombotic/bleeding events in MPN patients,while CALR gene mutation was a protective factor.Multivariate analysis showed that hypertension and PLT ≥ 600 × 109/L were independent risk factors for thrombotic/bleeding events in MPN patients.The goodness of fit of the constructed risk prediction model was 0.872,and the area under the ROC curve was 0.838.The model was validated with clinical data,the sensitivity,specificity and accuracy was 78.85%,87.83%and 84.13%,respectively.Conclusion:The risk of thrombotic/bleeding events in MPN patients with high WBC count,hypertension and hyperhomocysteinemia is higher.Controlling hypertension and hyperhomocysteinemia and reducing WBC and PLT counts are helpful to prevent thrombotic/bleeding events and improve the life quality of patients.
10.Analysis of Incidence Rate,Risk Factors and Prognosis of Pulmo-nary Hypertension in Ph-MPNs Patients
Hong-Xia AN ; Qi-Ke ZHANG ; Xiao-Fang WEI ; You-Fan FENG ; Yan-Qing SUN
Journal of Experimental Hematology 2024;32(5):1463-1471
Objective:To explore and analyze the incidence rate,influencing factors and impact on prognosis of pulmonary hypertension(PH)in patients with Philadelphia chromosome negative myeloproliferative neoplasms(Ph-MPNs).Methods:The clinical data of 271 patients with Ph-MPNs were retrospectively analyzed,and different disease subtypes were classified.Patients with different disease types were further divided into PH+and PH-groups according to whether HP occurred.Statistical methods were used to analyze the incidence rate,risk factors,and impact on prognosis of PH in Ph-MPNs patients.Results:The overall incidence rate of PH among 271 patients was 26.9%,and according to the classification of disease subtypes,it was found that the incidence rate of PH in patients with primary myelofibrosis(PMF)was significantly higher than those of patients with polycythemia vera and essential thrombocythemia(both P<0.05).Multivariate regression analysis showed that advanced age,long disease course,JAK2 positive and increased hematocrit,lactate dehydrogenase,monocyte count,and uric acid level were independent risk factors for PH in Ph-MPNs patients(OR>1,P<0.05),and there were some differences in the independent risk factors between different disease subtypes.Survival analysis results showed that the overall survival(OS)rate of PH+patients was significantly lower than that of PH-patients in other types except for PMF(all P<0.05).Conclusion:The incidence rate of PH in Ph-MPNs patients is high,and its risk factors are diverse.The OS rate of Ph-MPNs patients with PH is low.Therefore,we should be highly alert to the occurrence of PH in Ph-MPNs patients clinically.

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