Objective:To report the clinical data of a patient with 18q-deletion syndrome primarily presenting with intellectual disability, seizures, and white matter lesions, and to summarize the phenotypic and genetic characteristics of this syndrome.Methods:The clinical data, auxiliary examinations, and genetic test results of a patient diagnosed with 18q-deletion syndrome in the Department of Neurology, General Hospital of Northern Theater Command in October 2023 were retrospectively collected. Additionally, literatures related to "18q-syndrome" "18q-deletion syndrome" were searched in the CNKI, Wanfang Database, and PubMed databases. Combining a review of relevant literature, the clinical phenotypes and genetic features of 18q-deletion syndrome were summarized.Results:The patient was a 17-year-old male presenting with seizures, severe intellectual disability (Mini-Mental State Examination score of 11), and white matter lesions on brain magnetic resonance imaging. Whole-exome sequencing and chromosomal microarray analysis confirmed an approximately 11.3 Mb copy number deletion in the 18q22.1-q23 region, involving dosage-sensitive genes such as TSHZ1, MBP, NETO1, and ZNF407, leading to a diagnosis of 18q- deletion syndrome. A literature review identified 18 previously reported cases of 18q-deletion syndrome, totaling 19 cases including this patient. The main clinical manifestations included facial dysmorphism (10/19), intellectual disability (9/19), mental and/or motor developmental delay (9/19), congenital heart disease (8/19), seizures (6/19) and white matter lesions (5/19). Pathogenic genes involved included TCF4, SMAD4, TSHZ1, ZNF407, ZNF516, and MBP. Conclusions:18q-deletion syndrome is caused by partial deletion of the long arm of chromosome 18, with neurological manifestations such as seizures, intellectual disability, and white matter lesions, exhibiting high phenotypic variability. Genetic testing aids in definitive diagnosis.

ObjectiveTo analyze the epidemiological characteristics and spatial clustering patterns of brucellosis in humans in Zhangjiakou City, Heibei Province from 2018 to 2023, so as to provide a basis for the prevention and control of brucellosis. MethodsIncidence data of brucellosis in Zhangjiakou City from 2018 to 2023 were collected. Descriptive epidemiological analysis, Joinpoint regression modelling, and spatial autocorrelation analysis were used to analyze the temporal trends and spatial clustering patterns of the epidemic. ResultsA total of 3 812 cases of brucellosis were reported in Zhangjiakou City from 2018 to 2023, with no death case, yielding an average annual incidence rate of 15.43/100 000 (incidence range: 12.82/100 000‒17.76/100 000). Cases of brucellosis occurred year-round, with a distinct seasonal pattern, predominantly concentrated between March and September, peaking in May and June. The male-to-female ratio was 2.58∶1, with a higher incidence in males than that in females. The highest incidence rates were observed in the 40‒<50 years (74.98/100 000) and 50‒<60 years age group (87.14/100 000). The majority of cases were farmers and herdsmen (3 557 cases, 93.31%). Joinpoint regression analyses indicated that from 2018 to 2023, the incidence rate of human brucellosis in pastoral areas of Zhangjiakou City showed a declining trend (APC=-9.70%, 95%CI: -15.31%‒ -4.63%), while the incidence rate in mixed-use areas exhibited an increasing trend (APC=6.90%, 95%CI: 0.17%‒14.30%). Spatial clustering analyses showed that the incidence of brucellosis in Zhangjiakou from 2018 to 2023 was non-randomly distributed across the whole city, with a positive spatial correlation and significant clustering (Moran’s I>0, all P<0.001). Local spatial autocorrelation analyses showed that the high-high clusters were concentrated in the pastoral areas during 2018‒2020. From 2021 onward, the number of high-high clusters in mixed and non-pastoral regions exceeded those in traditional pastoral areas. ConclusionFrom 2018 to 2023, the incidence of brucellosis in Zhangjiakou City showed a declining trend, with significant spatial clustering observed across the city. It is recommended to intensify health education among males aged 40‒<60 years. Scientific livestock management practices should be promoted in non-pastoral and mixed areas, and cross-sectoral quarantine and joint prevention and control efforts should be strengthened as well.

Objective:To report the clinical data of a patient with 18q-deletion syndrome primarily presenting with intellectual disability, seizures, and white matter lesions, and to summarize the phenotypic and genetic characteristics of this syndrome.Methods:The clinical data, auxiliary examinations, and genetic test results of a patient diagnosed with 18q-deletion syndrome in the Department of Neurology, General Hospital of Northern Theater Command in October 2023 were retrospectively collected. Additionally, literatures related to "18q-syndrome" "18q-deletion syndrome" were searched in the CNKI, Wanfang Database, and PubMed databases. Combining a review of relevant literature, the clinical phenotypes and genetic features of 18q-deletion syndrome were summarized.Results:The patient was a 17-year-old male presenting with seizures, severe intellectual disability (Mini-Mental State Examination score of 11), and white matter lesions on brain magnetic resonance imaging. Whole-exome sequencing and chromosomal microarray analysis confirmed an approximately 11.3 Mb copy number deletion in the 18q22.1-q23 region, involving dosage-sensitive genes such as TSHZ1, MBP, NETO1, and ZNF407, leading to a diagnosis of 18q- deletion syndrome. A literature review identified 18 previously reported cases of 18q-deletion syndrome, totaling 19 cases including this patient. The main clinical manifestations included facial dysmorphism (10/19), intellectual disability (9/19), mental and/or motor developmental delay (9/19), congenital heart disease (8/19), seizures (6/19) and white matter lesions (5/19). Pathogenic genes involved included TCF4, SMAD4, TSHZ1, ZNF407, ZNF516, and MBP. Conclusions:18q-deletion syndrome is caused by partial deletion of the long arm of chromosome 18, with neurological manifestations such as seizures, intellectual disability, and white matter lesions, exhibiting high phenotypic variability. Genetic testing aids in definitive diagnosis.

Over the past 30 years,nano-drug delivery systems(NDDS)have become a promising field of drug research.However,a poor knowledge of the in vivo process of NDDS,the limited methods of pharmacokinetic correlation,and the inability to effectively provide strong support for the construction of upstream drug as well as the evaluation of downstream pharmacology and toxicology have become the technical bottleneck for their clinical transformation.Lipid nanodrug(LND)is the most successful NDDS for industrial transformation with great biocompatibility.Taking LND as an example,this paper reviewed the delivery process and influencing factors in vivo,and summarized the regulatory mecha-nism of biological environments on drug release in vivo.Based on advanced spectroscopy and mass spectrometry techniques,the spatial and temporal distribution of the dynamic carrier particle/depolymer-ized molecule ratio and dynamic free/encapsulated drug ratio of LND in biological matrix were ana-lyzed.Finally,the existing problems and future developments in this field were summarized to provide references for the analysis of NDDS in vivo,and stimulate readers'interest in nanomedical research and development.

Cationic liposomes,as non-viral vectors,are widely used in gene therapy and gene silencing.Although numerous cationic liposomes have various structures,they can all improve the per-formance of gene delivery.As gene therapy is increasingly studied,it may be foreseen that new cationic lipoplexes will be explored.In this review,we aim to discuss four constituent domains of cationic lipids(headgroup,hydrophobic domain,linker and helper lipids)in gene delivery.This article attempts to demonstrate that various lipid structures show different transfection efficiency and cytotoxicity by sum-marizing the similarities and differences between the four parts of cationic lipids.Furthermore,their major influencing factors are covered.Finally,three clinical cases of ionizable lipids are described to reveal their characteristics and differences from cationic lipids.This paper is intended to provide a conceptual framework for the design of cationic liposomes and for the selection of cationic lipids.

ObjectiveTo evaluate the effectiveness of treating tuberculous pleurisy with hydrogen peroxide solution washing and povidone iodine solution perfusing topically.MethodsAfter fixing position with B ultrasound or 64 rows spiral computed tomography,the thoracic cavity was firstly inspected with thoracoscope,the effusion was exhausted and the conglutionations was cut with thoracoscope or high frequency electrome,then the thoracic cavity was washed with 200 ml 3％ hydrogen peroxide solution,and lastly it was perfused continually with 0.5％ povidone iodine solution to control the intracavity infection quickly and to promote cicatrization.After routine antitubercular therapy for one year,the time of pleural effusion disappearing and the state of pleura hypertrophy was observed.ResultsThere were 86 cases in all.After antitubercular therapy and extracting pleural effusion at the same time in 48 cases.Twenty-two cases'effusion didn't increase basically after 4 weeks.They stopped extracting effusion and went on with antitubercular therapy (the first group).The rest 26 patients continued to accept the therapy of hydrogen peroxide solution washing and povidone iodine solution perfusing topically(the second group),and 23cases achieved remedial goal in a week with the effective rate of 88.46％ (23/26).The third group had 38 cases who didn't accept thoracocentesis but accepted the therapy of hydrogen peroxide solution washing and povidone iodine solution perfusing directly,and there were 36 cases that achieved remedial goal in a week with effective rate of 94.74％ (36/38).The time of pleural effusion disappearing in the third group was obviously shorter than that in the first group (1 week vs.4 weeks )(P ＜ 0.05 ),and there was no significant difference in the efftective rate between the second group and the third group (P ＞ 0.05 ).Half a year after therapy,the thickness of pleura was measured and it was found that in the first group was thickest and in the third group thinnest and even some without hypertrophy.It was the same effect after one year.Conclusions The effectiveness of the method treating tuberculous pleurisy with hydrogen peroxide solution washing and povidone iodine solution perfusing topically is defimite,and the method can shorten the time of pleural effusion disappearing and alleviate the pleural hypertrophy.