1.A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants
Zhanyun JIN ; Junjia GUO ; Yunyun YUAN ; Lingqiang MENG ; Hui LI ; Ya ZHAO ; Jiabao REN ; Yongping MA ; Zun-Sheng XIAO ; Hong ZHANG ; Ling YANG ; Chenyun DOU ; Xiaoxue WANG ; Jinmei WANG ; Wenjing SHEN
West China Journal of Stomatology 2024;42(5):581-592
Objective This study aimed to identify PAX9 variants in non-syndromic tooth agenesis families of Chi-na,as well as to analyze the genotype-phenotype of non-syndromic tooth agenesis caused by PAX9 variants,which can provide a basis for the genetic diagnosis of tooth agenesis.Methods We collected the data of 44 patients with non-syn-dromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023.Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members,and the variants were verified by Sanger sequencing.Pathogenicity analysis and function prediction of the variants were per-formed using bioinformatics tools.The correlation between the genotype of PAX9 variant and its corresponding pheno-type was examined by reviewing 55 publications retrieved from PubMed.The studies involved 232 tooth agenesis pa-tients with PAX9 variants.Results A novel PAX9 c.447delG(p.Pro150Argfs*62)and a reported PAX9 c.406C>T(p.Gln136*)were identified in two Chinese families.Through bioinformatics analysis and three-dimensional structural mod-eling,we postulated that the frameshift variant was pathogenic.The outcome was the premature cessation of PAX9 pro-tein,which caused severe structural and functional deficiencies.Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.Conclusion We identified the novel PAX9 c.447delG(p.Pro150Argfs*62)in a Chinese family of non-syndromic oligodontia,expanding the known variant spectrum of PAX9.The most susceptible tooth position for PAX9 variants of tooth agenesis was the second mo-lars and the deciduous molars during the deciduous dentition.
2. Preparation and in vitro evaluation of prostate cancer exosomes containing melittin
Li-Guo LYU ; Zun-Guang BAI ; Zhi-Qiang CHEN ; Chi-Ming GU ; Qiao-Ling WU ; Juan HUANG ; Jiang-Bo FU ; Yan-Fen CHEN
Chinese Pharmacological Bulletin 2023;39(2):392-399
Aim To prepare prostate cancer exosomes containing melittin and observe their uptake by prostate cancer cells. Methods Cells treated with starvation for different time were screened for exosome extraction. Exosomes from PC-3 cells were extracted by ultracentrifugation, and the extracted particles were examined by transmission electron microscopy, nanoparticle tracking analyzer(NTA), and Western blot. Melittin exosome system was prepared by repeated freeze-thaw method, incubation at room temperature as well as electroporation, and the size of encapsulation efficiency was measured by centrifugation. A high-performance liquid chromatography(HPLC)method was applied to assay the content of melittin exosomes(exo-mel). Fluorescence inverted microscopy was employed to evaluate the uptake of melittin exosomes by PC-3 cells, DU145 cells as well as LNCaP cells. Results The results of starvation treatment showed that 24 h starvation treatment was the optimal time point. TEM results showed that the exosomes were round or oval in shape with a distinct membranous structure, and the diameter was around 100 nm. The reagent protein concentration for NTA analysis of exosomes was 0.222 g·L-1. The results of Western blot for the marker proteins of exosomes showed that Alix and CD63 were positively expressed, which indicated that the exosomes could be obtained by starvation culture of PC-3 cells and ultracentrifugation. The results of entrapment efficiency showed that the entrapment efficiency of electroporation method was 17.51% ± 2.39%, that of repeated freeze-thaw method was 11.46% ± 1.02%, and that of room temperature incubation method was 3.93% ± 2.44%. The encapsulation efficiency of electroporation was the highest with significant difference(P<0.05). The uptake assay showed that PC-3 cells could efficiently take up exo-mel in a time-dependent manner, and DU145 cells and LNCaP cells also could take up exo-mel over time. Conclusions Exosomes can be accessed by starvation treatment and high-speed centrifugation, and the prostate cancer melittin exosome system prepared by electroporation method could be taken up by prostate cancer cells.
3.Expert consensus on late stage of critical care management.
Bo TANG ; Wen Jin CHEN ; Li Dan JIANG ; Shi Hong ZHU ; Bin SONG ; Yan Gong CHAO ; Tian Jiao SONG ; Wei HE ; Yang LIU ; Hong Min ZHANG ; Wen Zhao CHAI ; Man hong YIN ; Ran ZHU ; Li Xia LIU ; Jun WU ; Xin DING ; Xiu Ling SHANG ; Jun DUAN ; Qiang Hong XU ; Heng ZHANG ; Xiao Meng WANG ; Qi Bing HUANG ; Rui Chen GONG ; Zun Zhu LI ; Mei Shan LU ; Xiao Ting WANG
Chinese Journal of Internal Medicine 2023;62(5):480-493
We wished to establish an expert consensus on late stage of critical care (CC) management. The panel comprised 13 experts in CC medicine. Each statement was assessed based on the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) principle. Then, the Delphi method was adopted by 17 experts to reassess the following 28 statements. (1) ESCAPE has evolved from a strategy of delirium management to a strategy of late stage of CC management. (2) The new version of ESCAPE is a strategy for optimizing treatment and comprehensive care of critically ill patients (CIPs) after the rescue period, including early mobilization, early rehabilitation, nutritional support, sleep management, mental assessment, cognitive-function training, emotional support, and optimizing sedation and analgesia. (3) Disease assessment to determine the starting point of early mobilization, early rehabilitation, and early enteral nutrition. (4) Early mobilization has synergistic effects upon the recovery of organ function. (5) Early functional exercise and rehabilitation are important means to promote CIP recovery, and gives them a sense of future prospects. (6) Timely start of enteral nutrition is conducive to early mobilization and early rehabilitation. (7) The spontaneous breathing test should be started as soon as possible, and a weaning plan should be selected step-by-step. (8) The waking process of CIPs should be realized in a planned and purposeful way. (9) Establishment of a sleep-wake rhythm is the key to sleep management in post-CC management. (10) The spontaneous awakening trial, spontaneous breathing trial, and sleep management should be carried out together. (11) The depth of sedation should be adjusted dynamically in the late stage of CC period. (12) Standardized sedation assessment is the premise of rational sedation. (13) Appropriate sedative drugs should be selected according to the objectives of sedation and drug characteristics. (14) A goal-directed minimization strategy for sedation should be implemented. (15) The principle of analgesia must be mastered first. (16) Subjective assessment is preferred for analgesia assessment. (17) Opioid-based analgesic strategies should be selected step-by-step according to the characteristics of different drugs. (18) There must be rational use of non-opioid analgesics and non-drug-based analgesic measures. (19) Pay attention to evaluation of the psychological status of CIPs. (20) Cognitive function in CIPs cannot be ignored. (21) Delirium management should be based on non-drug-based measures and rational use of drugs. (22) Reset treatment can be considered for severe delirium. (23) Psychological assessment should be conducted as early as possible to screen-out high-risk groups with post-traumatic stress disorder. (24) Emotional support, flexible visiting, and environment management are important components of humanistic management in the intensive care unit (ICU). (25) Emotional support from medical teams and families should be promoted through"ICU diaries"and other forms. (26) Environmental management should be carried out by enriching environmental content, limiting environmental interference, and optimizing the environmental atmosphere. (27) Reasonable promotion of flexible visitation should be done on the basis of prevention of nosocomial infection. (28) ESCAPE is an excellent project for late stage of CC management.
Humans
;
Consensus
;
Critical Care/methods*
;
Intensive Care Units
;
Pain/drug therapy*
;
Analgesics/therapeutic use*
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Delirium/therapy*
;
Critical Illness
4.Management experience of a designated hospital for children with coronavirus disease 2019.
Jian-Guo ZHOU ; Qiao-Ling FAN ; Chun-Mei LU ; Pu XU ; Gang-Feng YAN ; Ling-Feng CHUNYU ; Ya-Zun LIU ; Yi-Wei CHEN ; Yan-Ming LU ; Ting ZHANG ; Hui YU ; Li-Bo WANG ; Jiang-Jiang XU ; Wen-Hao ZHOU
Chinese Journal of Contemporary Pediatrics 2022;24(8):839-845
The global pandemic of coronavirus disease 2019 (COVID-19) has brought great challenges to the traditional medical model. During the outbreak of COVID-19 in Shanghai, China, from March to May, 2022, there was a significant increase in the number of pediatric cases due to high transmissibility, immune escape, and vaccine breakthrough capacity of Omicron variants. The designated hospitals for children with COVID-19 served as a connecting link between children's specialized hospitals and mobile cabin hospitals. From April 7 to June 2, 2022, a total of 871 children with COVID-19 were admitted to Renji Hospital, Shanghai Jiao Tong University School of Medicine (South Branch), a designated hospital for children with COVID-19. Among these patients, 568 (65.2%) were children under 3 years old, 870 (99.9%) were mild or moderate, and 1 was severe. This article reports the experience in the management of pediatric cases in this designated hospital, which included the following aspects: establishing an optimal case-admission process; strengthening multidisciplinary standardized diagnosis and treatment; optimizing the management, warning, and rescue system for severe COVID-19; implementing family-centered nursing care; formulating an individualized traditional Chinese medicine treatment regimen; optimizing the discharge process and strengthening bed turnover; implementing strict whole-process control to reduce the risk of nosocomial infection; constructing a structured medical record system and using information platforms to adapt to the work mode of large-volume cases; conducting scientific research and sharing the experience in diagnosis and treatment.
COVID-19
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Child
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Child, Preschool
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China
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Hospitals, Pediatric
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Humans
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SARS-CoV-2
5.Analysis on distribution and epidemic characteristics of common pathogens of pneumonia among hospitalized children,Suzhou,2011-2018
Xin-xin XU ; Li-ling CHEN ; Jian-mei TIAN ; Jun ZHU ; Yu-zun LIN ; Yin WANG ; Jun-mei GAO ; Xue-jun SHAO ; Tao ZHANG ; Jun ZHANG ; Gen-ming ZHAO
Chinese Journal of Disease Control & Prevention 2020;24(3):264-268
Objective To understand the distribution and epidemic characteristics of common pathogens of pneumonia among hospitalized children in Suzhou. Methods Nasopharyngeal secretions were collected from hospitalized children with clinical pneumonia admitted to the respiratory department of Children's Hospital Affiliated to Suzhou University from April 2011 to March 2018 to detect common viral and bacterial pathogens of children's pneumonia. Results The total positive rate of pathogens was 75. 6% in the 4 765 clinical pneumonia cases. The positive rate of bacterial pathogens was 57. 4%. Streptococcus pneumoniae ( SP) was the highest,followed by Haemophilus influenzae ( H. i) ; The positive rate of viral pathogens was 44. 1%. Respiratory syncytial virus ( RSV) was the highest,followed by Bocavirus ( BoV) . The mixed infection rate of bacteria and virus was 25. 9%,and the most common types were RSV and SP,BoV and Streptococcus viride ( SV) . Conclusions SP,H.i,RSV and BoV are the main pathogens of clinical pneumonia in children. There are statistical differences in different age groups and seasons of hospitalized children's pneumonia in Suzhou. The mixed infection rate of bacteria and virus is high.
6.Detection of serum immunoglobulin M and immunoglobulin G antibodies in 2019 novel coronavirus infected patients from different stages.
Hui-Xia GAO ; Ya-Nan LI ; Zun-Gui XU ; Yu-Ling WANG ; Hai-Bin WANG ; Jin-Feng CAO ; De-Qin YUAN ; Li LI ; Yi XU ; Zhi ZHANG ; Ying HUANG ; Jian-Hua LU ; Yu-Zhen LIU ; Er-Hei DAI
Chinese Medical Journal 2020;133(12):1479-1480
7.The estimation of influenza-related outpatient rate in children under 5 years in Suzhou from 2011 to 2017
Jun-mei GAO ; Li-ling CHEN ; Jian-mei TIAN ; Jun ZHU ; Yu-zun LIN ; Yin WANG ; Jia YU ; Wei SHAN ; Xue-jun SHAO ; Tao ZHANG ; Jun ZHANG ; Gen-ming ZHAO
Chinese Journal of Disease Control & Prevention 2019;23(1):34-38
Objective To estimate the outpatient rate of influenza-related influenza-like illness (ILI) for children younger than 5 years in Suzhou municipal districts. Methods From October 2011 to March 2017, we conducted a prospective surveillance program on ILI for children under 5 years in outpatient settings of Soochow University Affiliated Children’s Hospital (SCH). The throat swabs were collected and tested for influenza viruses by RT-PCR. Based on the healthcare utilization surveys and population data, the number of visits and the outpatient rate of influenza-related ILI for children younger than 5 years in Suzhou municipal districts were estimated. Results During 2011-2017, in total, there were 45 930 estimated influenza-related ILI cases younger than 5 years in Suzhou municipal districts, which consisted of 7 490 influenza A/H1N1 cases, 17 843 influenza A/H3N2 cases and 20 597 influenza B cases. The estimated outpatient rate of influenza-related ILI was 6.4% in 2011-2017, which was highest in 2011-2012, 20.5%, and the lowest in 2012-2013, 2.4%. Conclusion The number of visits and the outpatient rate of influenza-related ILI in children younger than 5 years was high in Suzhou municipal districts.
8.Evaluation of effect on ovarian cyst removal by laparoendoscopic single site surgery and enhanced recovery after surgery
Feng-Ling LI ; Zun-Xiao TAO ; Guo-Hong LIU ; Xiao-Yan ZHANG ; Ai-Hua LIANG
China Journal of Endoscopy 2018;24(6):53-57
Objective?To evaluate the effect on removal of ovarian cyst by laparoendoscopic single site surgery and enhanced recovery after surgery (ERAS).?Methods?A prospective, single-institution study was performed for patients who were diagnosed benign ovarian cyst, underwent removal ovarian cyst, and adopted ERAS nursing care from June 2015 to June 2017. 40 patients who adopted laparo-endoscopic single site surgery were experimental group and 40 patients who adopted traditional laparoscopy surgery were control group. We compared the operation time, blood loss volume during operation, the time of getting out-of bed after operation, the postoperative exhausting time, the defecation time after surgery, the incidence of postoperative febrile and other complications, the time of hospital stay, and hospitalization expenses between the two groups. The measurement data was tested by t test, and the counting data was tested by χ2 test, which was statistically significant with P < 0.05.?Results?The results showed that the time of getting out-of bed after operation, the postoperative exhausting time, the defecation time after surgery and the time of hospital stay in experimental group was significantly shorter than the control group;Meanwhile the hospitalization expense was lower than the control group. These results were statistically significant (P < 0.05). While there was not statistically significant in the operation time, blood loss volume during operation, and the incidence of postoperative febrile and other complications between the experimental group and the control group (P > 0.05) .?Conclusion?ERAS combined with laparo-endoscopic single site surgery is helpful to the reduction of hospitalization cost and the clinical promotion and application.
9.Analysis of clinical characteristics and prognostic factors in patients with non-Hodgkin lymphoma and HBV infection.
Ling ZHANG ; Xiao Li YUAN ; Li JIANG ; Jing YANG ; Jian Min GUO ; Jie SHI ; Ping Chong LEI ; Yin ZHANG ; Zun Min ZHU
Chinese Journal of Hematology 2018;39(7):563-568
Objective: To explore the clinical characteristics and prognostic factors of the patients with non-Hodgkin's Lymphoma (NHL) complicated with HBV infection, so as to provide a basis for clinical accurate diagnosis and prognosis evaluation. Methods: The data of 313 newly diagnosed NHL patients from August 2012 to July 2016 were collected. The HBV serological markers were detected by ELISA, and HBV DNA was quantified by full automatic microparticle chemiluminescence immunoassay (≥1×10(5) copies/ml as high copy group, 1×10(3)-<1×10(5) copies/ml as low copy group). The relationship between HBV infection and prognosis was analyzed combined with the clinical features of the patients, and the HBV detection rate was compared with that of the common population (from the national HBV sero epidemiological data). Results: ①The positive rate of HBsAg in NHL patients was 12.5% (39/313), which was higher than 7.2% in the general population (χ(2)=14.596, P<0.001). HBV infection in the past (HBsAg negative but HBcAb positive) in 114 cases (36.4%), the incidence was slightly higher than that in the general population (34.1%). ②Compared HBsAg positive group with the negative group, the proportion of B cell type (87.2% vs 70.3%, P=0.027), Ann Arbor stage Ⅲ-Ⅳ(69.2% vs 34.6%, P<0.001), IPI score 3-5 (74.4% vs 50%, P=0.004), LDH level (79.5% vs 47.8%, P<0.001) and liver involvement (45.5% vs 31.7%, P=0.006) were all higher. The difference was statistically significant. ③Compared the HBV infected group (114 cases) with the non-infected group (160 cases), the difference had statistical significance in the proportion of Ann Arbor stage Ⅲ-Ⅳ (P=0.023) and IPI score 3-5 scores P=0.035). ④Compared HBV DNA positive group (30 cases) with negative group (71 cases), Ann Arbor stage Ⅲ-Ⅳ (P=0.011), IPI score 3-5 score (P=0.030), LDH level (P=0.025) and liver involvement (P<0.001) in the proportion of patients had statistical significance. The positive patients were divided into HBV DNA high and low copy groups with 1×10(5) copies of /ml as the boundary. The results showed that there was no statistical difference between the two groups (P>0.05). Conclusions: The HBV infection rate of NHL patients is significantly higher than that of the general population, and HBV infection is more closely related to B cell type NHL. Patients with HBV infection and HBV DNA positive had late Ann Arbor stage, high IPI score, high LDH level and liver involvement, and the prognosis is poor.
Hepatitis B
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Hepatitis B Antibodies
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Hepatitis B Surface Antigens
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Humans
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Lymphoma, Non-Hodgkin
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Prognosis
10.Application of ultrasonography guided water injection for insertion of naso-jejunal tubes
hua Jian SUN ; ting Xiao WANG ; Qing ZHANG ; xi Ming ZHAO ; fen Yu MA ; ling Hai GUO ; zhu Zun LI ; wei Da LIU
Chinese Journal of Nursing 2017;52(12):1418-1421
Objective To examine the effects of application of ultrasonography guided water injection for inser-tion of naso-jejunal tubes. Methods Hospitalized patients in ICU who needed naso-jejunal tubes were recruited from one tertiary hospital in Beijing from November 2016 to April 2017. Ultrasonography guided water injection was used to assist insertion of naso-jejunal tubes. Meanwhile,we conducted semi-structured interviews to learn feel-ings and suggestions from the patients. Results A total of 40 patients were included in this study,37 patients (92.5%) were successfully inserted with the tubes at the first attempt. The duration of insertion of naso-jejunal tubes was 25 (20,38.75) min. Conclusion Ultrasonography guided water injection is a simple and convenient method to guide the placement of naso-jejunal tubes for critical ill patients,which provides guarantee for early en-teral nutrition.

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