Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) cause a severe neurodevelopmental disorder, yet the impact of truncating mutations remains unclear. Here, we introduce the Cdkl5^492stop mouse model, mimicking C-terminal truncating mutations in patients. 492stop/Y mice exhibit altered dendritic spine morphology and spontaneous seizure-like behaviors, alongside other behavioral deficits. After creating cell lines with various Cdkl5 truncating mutations, we found that these mutations are regulated by the nonsense-mediated RNA decay pathway. Most truncating mutations result in CDKL5 protein loss, leading to multiple disease phenotypes, and offering new insights into the pathogenesis of CDKL5 disorder.
Animals ; Disease Models, Animal ; Mice ; Protein Serine-Threonine Kinases/deficiency* ; Mutation/genetics* ; Epileptic Syndromes/genetics* ; Humans ; Dendritic Spines/pathology* ; Spasms, Infantile/genetics* ; Male ; Seizures/genetics* ; Mice, Inbred C57BL

Objective To explore the impact factors of misjudge of pneumoconiosis stage based on GBZ70-2015 criteria.Methods Sixty-five case of pneumoconiosis were retrospectively enrolled.Chest high-resolution CT were independently analyzed by one associate chief physician,one attending physician and one resident physician,respectively.The stage of pneumoconiosis was judged,and the inter-observer consistency was observed.Taken the results of 5 experts using Delphi method as gold standard,the impact factors of misjudge of pneumoconiosis stage were analyzed.Results Among 65 cases,there were 42 cases of stage 1,16 cases of stage 2 and 7 cases of stage 3 pneumoconiosis.The inter-observer consistency of pneumoconiosis stage was relatively high(Kappa=0.653),of stage 3 pneumoconiosis was the best(Kappa=0.803),followed by stage 1(Kappa=0.661),while of stage 2 was the lowest(Kappa=0.518).Radiologist lack experience(OR=4.872),the lesions mainly located in the posterior upper area of lungs(OR=2.317),the present of r-type small shadows(OR=3.105)and high CT pulmonary emphysema index(OR=1.214)were all independent impact factors of misjudge of pneumoconiosis stage(all P＜0.05).Conclusion Both the experience of radiologist and lesions'heterogeneity were main impact factors of misjudge of pneumoconiosis stage based on GBZ70-2015 criteria.

The commonly used mechanical thrombectomy devices were introduced in terms of the working principle,advantages,disadvantages and clinical effects.The complications by mechanical thrombectomy devices used for thrombosis clearance were summarized,and the causes were analyzed and some countermeasures were put forward accordingly.It's pointed out mechanical thrombectomy devices would be improved in intelligence,automation,precision,individualization and remote control in the future.[Chinese Medical Equipment Journal,2025,46(8):79-85]

Objective To investigate the correlation between sleep duration and chest pain in the Chinese population.Methods A cross-sectional analysis was conducted using data on chest pain and sleep duration from 7942 participants in the 2018 China Health and Retirement Longitudinal Study(CHARLS).Among them,1239 had chest pain and 6703 did not;2645 were aged>65 years and 5297 were aged≤65 years.All participants were categorized into three groups based on sleep duration:≤6 h(n=3123),6-8 h(n=2959),and>8 h(n=1860).Differences in characteristics such as gender,age,marital status,education level,diabetes,and hypertension were compared across these groups.Multivariate logistic regression analysis,curve fitting,and threshold effect analysis were further employed to explore the correlation between sleep duration and chest pain.Results A total of 7942 participants were finally included in the study.Among the three groups with sleep duration>8 h,6-8 h and≤6 h,the incidences of chest pain were 12.6%,13.0%,and 19.8%,respectively.Multivariate logistic regression analysis demonstrated that with the increase in sleep duration,the incidence of chest pain showed a decreasing trend[odds ratio(OR)=0.88,95%confidence interval(CI)0.86-0.91,P<0.001].Curve fitting and threshold effect analysis indicated a U-shaped relationship between sleep duration and the risk of chest pain.In the population aged≤65 years,the inflection point for sleep duration was 8.5 h,beyond which the risk of chest pain did not decrease;in the population aged>65 years,the inflection point was 7.7 h,beyond which the risk of chest pain significantly increased(P<0.05).Conclusions There is a U-shape relationship between sleep duration and the risk of chest pain.In the age group≤65 years old,8.5 h is the turning point;in the population>65 years old,7.7 h is the turning point.When the sleep duration is below the turning point,prolonging the sleep time can help reduce the risk of chest pain.It is recommended to maintain an appropriate sleep duration of 6-8 h to reduce the risk of chest pain.

AIM To study the chemical constituents from Pyrolae Herba and their activity against pathogenic bacteria associated with sports injuries.METHODS Silica gel and Sephadex LH-20 were used for isolation and purification,then the structures of obtained compounds were identified by physicochemical properties and spectral data.The antibacterial activity was detected by filter paper method.RESULTS Twenty five compounds were isolated and identified as manuleoside H(1),5-hydroxy-3,7-dimethoxy-4,-methyl flavone(2),5-hydroxy-3,7,4'-methoxy-flavone(3),5-hydroxy-7,3',4'-trimethoxy-flavone(4),5,7-dihydroxy-3-methoxy-flavone(5),7.5,4'-trihydroxyflavone(6),ethyl vanillate(7),clovandiol(8),hydroxydihydrobovolide(9),zanthopyranone(10),eugenin(11),berchemol(12),3,7-dimethoxy-5,3',4'-trihydroxyflavone(13),2,5-dimethyl-7-hydroxychromone(14),rutalinium(15),formononetin(16),8-hydroxy-4',7-dimethoxy-isoflavones(17),isoline(18),dearabinosyl pneumonanthoside(19),3,5-dihydroxycinnamic acid(20),2,4,6-trihydroxyacetophenone(21),p-isopropyl benzoic acid(22),geraldone(23),ethylsyringin(24),4-hydroxyphenylethyl-2'-hydroxypropionate(25).Compounds 8,10,12,16 and 24 showed bacteriostatic zone on pathogenic bacteria susceptible to sports injuries.CONCLUSION All the compounds are isolated from Pyrolae Herba for the first time.Compounds 8,10,12,16 and 24 have inhibitory activity against pathogenic bacteria susceptible to sports injuries.

The commonly used mechanical thrombectomy devices were introduced in terms of the working principle,advantages,disadvantages and clinical effects.The complications by mechanical thrombectomy devices used for thrombosis clearance were summarized,and the causes were analyzed and some countermeasures were put forward accordingly.It's pointed out mechanical thrombectomy devices would be improved in intelligence,automation,precision,individualization and remote control in the future.[Chinese Medical Equipment Journal,2025,46(8):79-85]

Objective To explore the impact factors of misjudge of pneumoconiosis stage based on GBZ70-2015 criteria.Methods Sixty-five case of pneumoconiosis were retrospectively enrolled.Chest high-resolution CT were independently analyzed by one associate chief physician,one attending physician and one resident physician,respectively.The stage of pneumoconiosis was judged,and the inter-observer consistency was observed.Taken the results of 5 experts using Delphi method as gold standard,the impact factors of misjudge of pneumoconiosis stage were analyzed.Results Among 65 cases,there were 42 cases of stage 1,16 cases of stage 2 and 7 cases of stage 3 pneumoconiosis.The inter-observer consistency of pneumoconiosis stage was relatively high(Kappa=0.653),of stage 3 pneumoconiosis was the best(Kappa=0.803),followed by stage 1(Kappa=0.661),while of stage 2 was the lowest(Kappa=0.518).Radiologist lack experience(OR=4.872),the lesions mainly located in the posterior upper area of lungs(OR=2.317),the present of r-type small shadows(OR=3.105)and high CT pulmonary emphysema index(OR=1.214)were all independent impact factors of misjudge of pneumoconiosis stage(all P＜0.05).Conclusion Both the experience of radiologist and lesions'heterogeneity were main impact factors of misjudge of pneumoconiosis stage based on GBZ70-2015 criteria.

AIM To study the chemical constituents from Pyrolae Herba and their activity against pathogenic bacteria associated with sports injuries.METHODS Silica gel and Sephadex LH-20 were used for isolation and purification,then the structures of obtained compounds were identified by physicochemical properties and spectral data.The antibacterial activity was detected by filter paper method.RESULTS Twenty five compounds were isolated and identified as manuleoside H(1),5-hydroxy-3,7-dimethoxy-4,-methyl flavone(2),5-hydroxy-3,7,4'-methoxy-flavone(3),5-hydroxy-7,3',4'-trimethoxy-flavone(4),5,7-dihydroxy-3-methoxy-flavone(5),7.5,4'-trihydroxyflavone(6),ethyl vanillate(7),clovandiol(8),hydroxydihydrobovolide(9),zanthopyranone(10),eugenin(11),berchemol(12),3,7-dimethoxy-5,3',4'-trihydroxyflavone(13),2,5-dimethyl-7-hydroxychromone(14),rutalinium(15),formononetin(16),8-hydroxy-4',7-dimethoxy-isoflavones(17),isoline(18),dearabinosyl pneumonanthoside(19),3,5-dihydroxycinnamic acid(20),2,4,6-trihydroxyacetophenone(21),p-isopropyl benzoic acid(22),geraldone(23),ethylsyringin(24),4-hydroxyphenylethyl-2'-hydroxypropionate(25).Compounds 8,10,12,16 and 24 showed bacteriostatic zone on pathogenic bacteria susceptible to sports injuries.CONCLUSION All the compounds are isolated from Pyrolae Herba for the first time.Compounds 8,10,12,16 and 24 have inhibitory activity against pathogenic bacteria susceptible to sports injuries.

Objective:To evaluate the efficacy and safety of DCAG(decitabine,cytarabine,anthracyclines,and granulocyte colony-stimulating factor)regimen in the treatment of patients with relapsed/refractory(R/R)acute myeloid leukemia(AML).Methods:The clinical data of 64 R/R AML patients received treatment at Chinese PLA General Hospital from January 1st,2012 to December 31st,2022 were retrospectively analyzed.Primary endpoints included efficacy measured by overall response rate(ORR)and safety.Secondary endpoints included overall survival(OS),event-free survival(EFS)and duration of response(DOR).The patients were followed from enrollment until death,or the end of last follow-up(June 1st,2023),whichever occurred first.Results:Sixty-four patients who failed prior therapy were enrolled and completed 1 cycle,and 26 and 5 patients completed 2 and 3 cycles,respectively.Objective response rate was 67.2％[39:completeremission(CR)/CR with incomplete hematologic recovery(CRi),4:partial remission(PR)].With a median follow-up of 62.0 months(1.0-120.9),the median overall survival(OS)was 23.3 and event-free survival was 10.6 months.The median OS was 51.7 months(3.4-100.0)in responders(CR/CRi/PR)while it was 8.4 months(6.1-10.7)in nonresponders(P＜0.001).Grade 3-4 hematologic toxicities were observed in all patients.Four patients died from rapid disease progression within 8 weeks after chemotherapy.Conclusion:The DCAG regimen represents a feasible and effective treatment for R/R AML.

Helicobacter pylori (Hp) is a unipolar, microaerobic, multiflagellar, spiral-shaped Gram-negative bacterium that survives and colonizes human gastric mucosa. As a classⅠcarcinogen associated with gastric cancer, long-term stimulation of gastric mucosa by Hp can cause atrophic gastritis, peptic ulcer, gastric cancer and gastric mucosa-associated lymphoid tissue lymphoma. It has been reported that Hp can cause epithelial-mesenchymal transition (EMT) in gastric epithelial cells, thereby inducing gastric cancer. We review the mechanism of Hp-induced EMT in gastric epithelial cells, in order to provide new insights for early diagnosis and targeted therapy of gastric cancer.