Objective:To clarify the genetic diagnosis of two children with ring chromosome 18 and explore their mechanisms and clinical phenotypes.Methods:Two patients treated at the Children′s Hospital of Henan Province respectively in June 2022 and March 2023 were selected as the study subjects. Genetic testing and diagnosis were carried out through copy number variation sequencing (CNV-seq), G-banded chromosomal karyotyping, and whole exome sequencing (WES). This study was approved by the Children′s Hospital of Henan Province (Ethics No. 2023-K-075).Results:Child 1 had mainly manifested developmental delay, white matter hypoplasia, type 1 diabetes mellitus, and micropenis. He was found to have a chromosomal karyotype of 46, XY, r(18)(p11.21q22.1)[40]/46, XY[7], and CNV-seq results showed that he has a 14.86 Mb deletion at 18p11.21p11.32 and a 14.02 Mb deletion at 18q22.1q23. Child 2 had peculiar facial features, delayed white matter myelination, developmental delay, atrial septal defect, severe sensorineural deafness, and congenital laryngeal stridor. He was found to have a chromosomal karyotype of 46, XY, r(18)(p11.2q23). CNV-seq result proved that he had a 14.86 Mb deletion at 18p11.21p11.32 and a 20.74 Mb deletion at 18q21.32q23. WES has failed to detect single nucleotide variants (SNVs) in either child, but revealed a large segmental deletion at chromosome 18 in both of them.Conclusion:Both children were diagnosed with ring chromosome 18 syndrome. The different size of the deletional fragments in the 18q region and mosaicism of ring chromosome 18 in child 1 may underlay the variation in their clinical phenotypes. The type 1 diabetes mellitus and micropenis noted in both children are novel features for ring chromosome 18 syndrome.

Due to the long pathological process of Alzheimer disease(AD),this paper begins with the time-line of classical pathological events in AD and uses anomalous microglia activation as a starting point to elucidate the role of abnormal lipid metabolism in the pathological process of AD.This includes its influence on microglial pathology and its interactions with the two primary nodes of AD,namely,Amyloid-β and the microtubule-associated protein tau.Using this as a foundation,the paper briefly describes the effects of abnormal lipid metabolism caused by short-term and long-term high-fat diets on the pathological progression of AD and its potential mechanisms,aiming to provide a reference framework for the early intervention of AD.

IL-33 is a member of the IL-1 cytokine superfamily.It is a key regulator of pathological inflammation,immune ho-meostasis and fibrosis.IL-33 receptor ST2 is expressed on the surface of all innate immune cells,as well as some subtypes of B and T cells.IL-33 is a dual-function protein.Under normal circumstances,the N-terminal part of IL-33 resides in the nucleus of its ex-pressed cells and is released as a cytokine to exert immunomodulatory properties when cells are damaged or necrotic.Different expres-sion forms of IL-33 are located differently and may play different immunological roles.The immunological effects of IL-33 are highly di-verse.The cytokine IL-33 plays an amplifying and enhancing role in the innate immune response,while the full-length(FL)IL-33 stored in the nucleus inhibits inflammation by binding to NF-κB.IL-33/ST2 signaling plays a key role in both innate and acquired im-mune responses.In innate immunity,IL-33 and group 2 innate lymphocytes(ILC2)provide an important axis for rapid immune re-sponse and tissue homeostasis.In acquired immunity,IL-33 interacts with dendritic cells,Th2 cells,follicular helper T cells(Tfh)and regulatory T cells(Tregs).IL-33/ST2 signaling triggers pro-tumor or anti-tumor immune responses in different cell types in auto-crine and paracrine ways.In addition,the interaction between IL-33 and mitochondrial metabolism is also one of the potential mecha-nisms affecting the immune system.

Objective:To investigate the kinetic metrics of 68Ga-fibroblast activation protein inhibitor (FAPI)-04 in pancreatic cancers and normal organs by using total-body PET dynamic imaging. Methods:From December 2020 to December 2021, 68Ga-FAPI-04 total-body PET/CT dynamic imaging were performed on 6 pancreatic cancer patients (3 males, 3 females, median age 55.5 years) in Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University. Images were respectively analyzed. Manual delineations of volume of interests (VOIs) on multiple normal organs and pathological lesions were performed and time-to-activity curves (TACs) were generated. A reversible two-tissue compartment model (2TCM) was fitted for each tissue TAC. Rate constants including K1, k2, k3 and k4, and the total volume of distribution ( Vt) were obtained and compared by tissue types. Wilcoxon rank sum test and Spearman correlation analysis were used for data analysis. Results:Kinetic metrics varied significantly among normal organs and pancreatic cancer lesions ( z values: 2.00-1 240.00, all P<0.05). The highest K1 among lesions was observed in primary tumor (0.30 min -1), which was observed in the spleen (1.42 min -1) among normal organs. The highest k2 among lesions was observed in peritoneal metastases (0.24 min -1), which was observed in the spleen (2.59 min -1) among normal organs. Primary tumor showed the highest k3 of 0.17 min -1 among lesions, and the pancreas had the highest k3 of 0.16 min -1 among normal organs. Primary tumor had the highest k4 of 0.03 min -1 among lesions, and the heart, lungs, parotid glands had high k4(0.06 min -1) among normal organs. Vt were higher in pathological lesions compared to normal organs, with the highest in primary tumor (13.78 ml/cm 3). There were correlations between Vt in lesions and SUV mean( rs=0.86, P<0.001) or SUV max ( rs=0.77, P<0.001). Conclusion:The rate constants including K1, k2, k3 and k4, and Vt of 68Ga-FAPI-04 vary among normal organs and lesions.

Objective:To evaluate the efficacy and safety of the combination of apatinib and S-1 for treatment of patients with advanced gastric cancer, in order to provide clinical therapy reference for advanced gastric cancer.Methods:Clinical trials were retrieved from China National Knowledge Infrastructure (CNKI) , Chinese Science and Technology Journal Database (CSTJ) , Wanfang Medical Network, VIP Journal Database (VIP) , China Biomedical Literature Database (CBMdisc) , Cochrane Library, PubMed, etc., searched from Jan. 2010 to Oct. 2019. The experimental group were given apatinib combined with S-1, and the control group received S-1 monotherapy. Two sets of RCT in patients with advanced gastric cancer were collected. Researchers first screened literature, data extraction and to assess the risk of bias, then made Meta analysis with RevMan5.3 software, the test level was α=0.05.Results:A total of 12 Meta analysis of randomized RCT were selected from the group, including 561 cases of patients. The results showed that objective response rate (ORR) and disease control rate (DCR) of the experimental group was higher than those of the control group [ (RD=0.16, 95% CI: 0.08-0.23, P<0.0001; RD=0.21,95% CI: 0.14-0.29, P<0.00001) ]; There was no significant difference in nausea and vomiting, hand-foot syndrome, fatigue, diarrhea, thrombocytopenia, neutropenia, leukopenia, neuro-toxicity and mucositis between the two groups. The rate of hypertension, proteinuria, hemoglobin of the experimental group decrease was higher than that of the control group [ (OR=6.21, 95% CI: 1.92-20.13, P=0.002; OR = 10.57,95% CI: 5.06-22.04, P<0.00001; OR=2.84, 95% CI:1.25-6.48, P=0.01) ]; and there was a significant heterogeneity in hypertension among them ( P=0.008, I 2=63) . Conclusion:Compared with S-1 alone, the treatment effect of S-1 combined with targeted drug apatinib can significantly improve ORR and DCR of patients with advanced gastric cancer.

Objective:To provide reference for clinical case diagnosis and treatment applications using descriptive analysis of patient-specific IgM and IgG test result of novel coronavirus pneumonia (COVID-19).Methods:Chemical luminescence was used to detect the levels of 423 confirmed or suspected cases IgM and IgG antibody, and the test result of patients with different clinical characteristics were compared and analyzed.Results:The positive rates of confirmed cases of COVID-19 were 80.4% (314/388) and 98.2% (381/388), for IgM and IgG respectively, and the positive rates of COVID-19 suspected cases specific IgM and IgG were 0.0% (0/24) and 45.8% (11/24), respectively. In patients at 6 weeks or more after the onset of the disease, the positive rate of IgG antibody was 100%. The level of IgG titer was generally higher in cases of 5~8 weeks after onset (mean: 112.70 AU/ml) than in cases of 1-4 weeks after onset (mean: 85.01 AU/ml) (U=8 531, P<0.0001). The level of IgG titer was higher in severe type cases than that of patients with ordinary type illness, with an average of 137.61 AU/ml. Conclusions:Specific IgM and IgG antibodies have strong application value in COVID-19 case diagnosis, and it is recommended to strengthen the tracking and monitoring of IgM and IgG titer levels in patients.

Objective To investigate the cytogenetic and clinical features of acute myeloid leukemia (AML) with CD7 positive. Methods Among 788 AML patients in the First Affiliated Hospital of USTC from January 2008 to December 2012, a total of 140 AML patients with CD7 positive were enrolled, and their clinical and cytogenetic characteristics were analyzed respectively. Results According to French-American-British (FAB) classification systems, M5[47.1 % (66/140)] and M2[27.1 % (38/140)] were often detected in 140 AML patients with CD7 positive. The positive rate of CD7 in M0patients [(60.9±13.2) %] was the highest, followed by (53.1±29.5) % in M1patient. Karyotype analysis showed that 72 (51.4 %) AML patients with CD7 positive had unfavorable karyotypes. Thirty-one (22.1 %) AML patients with CD7 positive simultaneously showed the expressions of lymphoid antigens. Clinically, some AML patients with CD7 positive was accompanied by hyperleukocytosis [75.0 % (105/140)] (white blood count ≥20×109/L) and hepatosplenomegaly [82.1 % (115/140)]. The proportion of elder patients (above 65 years old) and complete remission rate of AML with CD7 positive were lower than those of AML with CD7 negative [25.7 % (36/140) vs. 39.4 % (255/648);12.1 % (17/140) vs. 24.7 % (160/648), respectively], and there were statistical differences (χ 2＝ 8.62, P＝0.03; χ 2＝ 9.70, P＝ 0.01, respectively). Conclusion AML patients with CD7 positive have specific cytogenetic and clinical characteristics, and poor prognosis.

OBJECTIVE:To provide reference for developing effective interventions to self-medication and promoting reason-able self-medication. METHODS:Questionnaires were designed based on the modified Anderson's behavioral model of health ser-vices. By using cluster sampling,residents were randomly selected from 4 districts of Wuhan city to analyze the self-medication be-havior and its influential factors. RESULTS:Totally 204 questionnaires were sent and 199 were recovered with effective rate of 97.5%. The result showed 47.7% residents who perceived discomfort within 2 weeks medicated themselves,and the rate was high-er thansee the doctor. Among self-medication residents,the rate of mild disease,general and serious disease was separately 50.5%,46.3% and 3.2%. The length of illness<7 d and the length of illness ≥7 d accounted for 95.8% and 4.2%,separately. Cold and cough was the highest cost disease for self-medication. The reasons for selecting self-medication were:no need tosee the doctor(43.2%),trouble-saving(23.1%),high medical costs(14.6%),no time to see the doctor(14.6%). 54.1% residents acquired basic medication knowledge from the past experience,25.5% from other's recommendation,and the other from the inter-net,newspaper and magazines. As for the effect of self-medication in the past one year,75.4% residents considered most were ef-fective. 18.6%had suffered from ADR due to self-medication;the incidence of ADR in the residents reading the instruction was sig-nificantly lower than those not reading the instruction(P<0.05);the ratio of reading the instruction in residents with low education level was significantly lower than that with high education level(P<0.05). Single factor analysis showed that residents'choice of self-medication were significantly influenced by the marital status,education,monthly income,medicare,accessibility of medical institutions,the severity of disease and duration of illness(P<0.05). The proportion of self-medication for married group was sig-nificantly higher than unmarried group;the proportion of self-medication for low education level group was significantly higher than high education level group;the proportion of self-medication for low monthly income group was significantly higher than high monthly income group;the proportion of self-medication for group with business medical insurance or self payment was significant-close to medical institutions;the proportion of self-medication for mild disease group was significantly higher than serious disease group;the proportion of self-medication for length of disease≥7 d was significantly lower than length of disease<7 d. Results of multivariate analysis showed that severity of disease and length of disease were the important influential factors for the choice of self-medication(P<0.05). CONCLUSIONS:Self-medication is common in Wuhan city,and mainly for general and chronic dis-ease. Residents don't pay enough attention to reading the drug instructions. Self-medication is affected by various factors which has a certain health risks.

Objective To analyze the performance evaluation framework and construction pathway model of international health system,and study the main theories,methods and laws of the framework construction systematically.Methods Descriptive systematic review was used to retrieve the literature, and the ideal type method was used to construct the critical pathway model,for a study of the frameworks.Results The performance evaluation framework is constructed by defining the five steps:the construction purposes,health system boundary,health system goal,health systems architecture,and health systems framework dimensions.Conclusions Purpose determines the function type of the framework,while the boundary and target determine the structure of the framework jointly.Generalized model of the health system structure and the narrowed model of the healthcare system are widely used in the health system performance evaluation.The construction of the bridge between obj ectives and structures of the health system is still faced with challenges.

A systemic analysis of the origin,methods and characteristics of the health system classification theory systematically.Such classification originated in the Ideal Type by Marx Weber,and was deeply influenced by Esping Andersen′s welfare system.This classification is composed of two mainstream methods:the induction method which is based on properties of actual cases,and the deduction method which is based on reasoning from theoretical concepts.For the former,the theory was formed by observation and summarization of the laws of specific obj ects,while for the latter,a series of theory attributes are set based on given phenomena,with the attribute variables translated aggregately in the classification.As both share the same obj ective,yet with opposite advantages and risks,they should be combined appropriately as required in the study based in their application in China′s specifics.