1.A multi-dimensional analysis of pollen broadcasting concerns in Chinese population: a large-scale multi-center cross-sectional survey
Chiyu XU ; Yanshu ZHANG ; Ning LUAN ; Xiangyi LIU ; Dayang QIN ; Hongmin WANG ; Xuping XIAO ; Shuihong ZHOU ; Jie ZHANG ; Ping ZHANG ; Yuqing BAI ; Pengpeng WANG ; Yan QI ; Zhongwu SUN ; Zhuang LIU ; Luo BA ; Wenchao WANG ; Xing LU ; Min WANG ; Rui GUO ; Deyi SUN ; Liyuan TAO ; Li ZHU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2024;59(1):2-11
Objective:To investigate the concern about pollen broadcasting in Chinese population from multiple dimensions and to understand the information about allergic rhinitis (AR) in China by analyzing related factors.Methods:From March 1 to September 30, 2022, a large-scale multi-center cross-sectional survey was conducted based on the Questionnaire Star platform in 21 Chinese hospitals. A total of 7 056 subjects from 7 regions in China: Northeast, North, East, Central, South, Southwest, and Northwest China were included. Basic characteristics (including social demographic characteristics and disease characteristics of AR patients), concern about pollen broadcasting, the willingness of pollen-induced AR (PiAR) patients to receive pollen broadcasting, and the treatment satisfaction rate of AR patients were collected. The chi-square test, multivariate linear regression model, and Logistic regression analysis were used to analyze the concern about pollen broadcasting in the Chinese population and related factors from multiple dimensions.Results:Among 7 056 subjects, 23.02% were concerned about pollen broadcasting. Among 3 176 self-reported AR and 1 019 PiAR patients, 25.60% and 39.16% were concerned about pollen broadcasting, respectively, which was higher than that of non-AR or non-PiAR subjects ( χ2 value was 21.74 and 175.11, respectively, both P<0.001). Among AR patients, the proportion of spring and autumn allergen-positive patients concerned about pollen broadcasting was higher than that in perennial allergen-positive patients ( χ2 value was 20.90 and 19.51, respectively, both P<0.001). The proportion of AR patients with asthma, sinusitis, allergic conjunctivitis, and cardiovascular and cerebrovascular diseases was higher than those without complications ( χ2 value was 50.83, 21.97, 56.78, 7.62, respectively, all P<0.05). The proportion of AR patients in North China who could find pollen broadcasting locally was 31.01%, significantly higher than those in other regions (all P<0.05). Multivariate linear regression model analysis showed that among PiAR patients, those with higher per capita household income and higher AR disease cognition levels had been concerned about pollen broadcasting in the past, and those complicated with allergic conjunctivitis had stronger intention to receive pollen broadcasting (B value was 0.24, 0.13, 0.66, 0.47, respectively, all P<0.05). The higher the disease cognition level of PiAR patients, the stronger their willingness to actively participate in treatment ( R2=0.72, P<0.001). Only 18.89% of AR patients felt satisfied with the treatment effect. Logistic regression analysis showed that in AR patients, the treatment satisfaction rate was significantly higher among those concerned about pollen broadcasting compared to those who were not ( OR=1.83, P<0.001). Conclusions:Currently, the dissemination of pollen broadcasting in China is hindered by various factors such as disease cognition level. The treatment satisfaction among AR patients remains unsatisfactory.
2.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
3.Is this delayed inflammatory reaction of breast polyacrylamide hydrogel caused by 2019-nCoV infection? A case report and literature review
Xiaomu MA ; Boyang XU ; Wenyue LIU ; Jie LUAN ; Chunjun LIU
Chinese Journal of Plastic Surgery 2024;40(2):212-217
Breast augmentation using polyacrylamide hydrogel (PAHG) was widely used in China. We present the first case of delayed breast inflammation after 2019 novel coronavirus(2019-nCoV) infection in a patient who recieved breast augmentation with PAHG 20 years ago, without any other predispositions. The 45-year-old female patient complained of severe breast swelling and pain three weeks after 2019-nCoV infection. The swelling extended from the upper clavicle to the upper abdomen. Delayed inflammation reaction was diagnosed, followed by emergency surgery. During the surgery, the injected material was observed to gush out in a form of greenish and thin paste, with a foul odor. The wound had extensive diffuse oozing and hemoglobin decreased significantly. The patient was discharged one week after surgery. During a three-month follow-up, she experienced weakness and fatigue with no complications. There are still many unknown areas of the impact of 2019-nCoV on human foreign bodies and immune system, which is diverse and complex. Reporting various possible symptoms and mechanisms is conducive to improving the level of awareness and intervention of plastic surgeons.
4.Expression profiles of cytokines in vitreous humor in lattice degeneration
Jun YU ; Jin YAO ; Nan YANG ; Jie LUAN
Chinese Journal of Ocular Fundus Diseases 2024;40(4):281-286
Objective:To observe the expression levels of related cytokines in the vitreous humor of eyes with rhegmatogenous retinal detachment (RRD) associated with lattice degeneration (LD).Methods:A clinical observational study. From May 2022 to February 2023, 43 patients of 43 eyes diagnosed with RRD, with or without accompanying LD, who underwent their first pars plana vitrectomy (PPV) at Zhongda Hospital Southeast University and The Affiliated Eye Hospital of Nanjing Medical University were included in the study. The patients were divided into two groups: RRD with LD (LD group), consisting of 27 patients with 27 eyes, and RRD without LD (Non-LD group), consisting of 16 patients with 16 eyes. Additionally, 6 patients (6 eyes) with idiopathic macular holes and 4 patients (4 eyes) with idiopathic epiretinal membranes during the same period were selected as the control group. Before initiating PPV and without intraocular perfusion, a 0.5 ml sample of undiluted vitreous fluid from the central portion was excised and aspirated. The concentrations of monocyte chemoattractant protein-1 (MCP-1), macrophage inflammatory protein-1 alpha (MIP)-1α, MIP-1β, interferon-γ-inducible protein 10 (IP-10), interleukin-6 (IL-6), IL-8, macrophage migration inhibitory factor (MIF), tumor necrosis factor-alpha-α, interferon-γ, intercellular adhesion molecule 1 (ICAM-1), vascular cell adhesion molecule-1, platelet endothelial cell adhesion molecule 1 (PECAM-1), placental growth factor (PLGF) and vascular endothelial growth factor (VEGF) in the vitreous fluid were quantitatively measured using the Luminex high-throughput multiplex assay technology. The comparison of cytokine expression levels between groups was performed using the Kruskal-Wallis rank sum test, with significance levels for post-hoc pairwise comparisons adjusted by DSCF methods.Results:The eyes of the patients in the LD group, Non-LD group, and control group showed statistically significant differences ( P<0.05) in the concentrations of IL-6 ( H=14.400), IL-8 ( H=13.610), MCP-1 ( H=12.050), VEGF ( H=9.920), MIP-1α ( H=6.620), IP-10 ( H=7.780), MIF ( H=12.920), PECAM-1 ( H=9.990), ICAM-1 ( H=8.070), and PLGF ( H=16.850). Upon pairwise comparison between groups, the vitreous fluid concentrations of IL-6, IL-8, and PLGF in the LD group were found to be significantly higher than those in the Non-LD group ( P<0.05). Conclusion:The expression levels of IL-6, IL-8, and PLGF are elevated in the vitreous fluid of eyes with RRD accompanied by LD.
5.Is this delayed inflammatory reaction of breast polyacrylamide hydrogel caused by 2019-nCoV infection? A case report and literature review
Xiaomu MA ; Boyang XU ; Wenyue LIU ; Jie LUAN ; Chunjun LIU
Chinese Journal of Plastic Surgery 2024;40(2):212-217
Breast augmentation using polyacrylamide hydrogel (PAHG) was widely used in China. We present the first case of delayed breast inflammation after 2019 novel coronavirus(2019-nCoV) infection in a patient who recieved breast augmentation with PAHG 20 years ago, without any other predispositions. The 45-year-old female patient complained of severe breast swelling and pain three weeks after 2019-nCoV infection. The swelling extended from the upper clavicle to the upper abdomen. Delayed inflammation reaction was diagnosed, followed by emergency surgery. During the surgery, the injected material was observed to gush out in a form of greenish and thin paste, with a foul odor. The wound had extensive diffuse oozing and hemoglobin decreased significantly. The patient was discharged one week after surgery. During a three-month follow-up, she experienced weakness and fatigue with no complications. There are still many unknown areas of the impact of 2019-nCoV on human foreign bodies and immune system, which is diverse and complex. Reporting various possible symptoms and mechanisms is conducive to improving the level of awareness and intervention of plastic surgeons.
6.Detection of 13 Paralytic shellfish toxins in human whole blood by high-performance liquid chromatography-tandem mass spectrometry
Xiuqin MA ; Qiang JIE ; Yujing LUAN ; Zeyu WANG ; Fanglin WANG
Chinese Journal of Forensic Medicine 2024;39(4):458-461,466
Objective To establish the analysis method of 13 Paralytic shellfish toxins(PSTs)in human whole blood by high-performance liquid chromatography-tandem mass spectrometry(UPLC-MS/MS).Methods 13 kinds of PSTs were extracted from the whole blood using acetonitrile with 1%acetate(1︰3,v︰v)solution,and separated by UPLC BEH Amide chromatographic column(100mm×2.1mm,1.7μm).The samples were detected by an electrospray ionization source(ESI)and positive and negative ion multiple reaction monitoring(MRM)mode,and quantified by matrix matching curve external standard method.Results The results showed that 13 kinds of PSTs in blood samples were linear well in the ranges of 1~100 ng/mL,with the correlation coefficient(r2)>0.995.The limit of detection(LODs)of the method were 0.5~2 ng/mL,the limit of quantitation(LOQs)were 1~4 ng/mL,and the recoveries of the method were 65.55%~114.12%.Conclusion The method is highly sensitive,reproducible,and can qualify and quantify thirteen toxins at the same time,which is suitable for the rapid detection of PSTs in whole blood samples.
7. Brain removal through a posterior incision on the scalp of both ears
Jian-Wei WANG ; Huai-Cun LIU ; Quan-Cheng CHENG ; Hui-Ru DING ; Yan-Rong SUN ; Pei-Liang GU ; Ying-Jie LUAN ; Wei-Guang ZHANG ; Jun-Wei ZHANG
Acta Anatomica Sinica 2023;54(1):123-126
Objective The traditional round incision or cross incision brain harvesting method can not meet the requirements of protecting the donor's remains. In this study, the method of brain removal through a posterior incision on the scalp of both ears was proposed, which effectively protected the donor's remains. Methods Adopting the incision 2. 0 cm above the external occipital protuberance to the most front edge of the auricle to obtain a complete brain. Results The incision did not involve the head and face skin, which was small and conducive to suture repair and reduce exudation. Conclusion The incision effectively protects the donor' s remains, and it will be conducive to the establishment and development of the brain bank.
8.The correlation between the severity of hypoxic-ischemic brain damage in neonatal rats and subsequent abnormal neurobehavior
Yabing DING ; Hui YANG ; Jie ZHOU ; Zhaoyan WANG ; Qian WANG ; Zuo LUAN
Chinese Journal of Neonatology 2023;38(9):555-561
Objective:To assess the severity of hypoxic-ischemic brain damage (HIBD) in neonatal rats and predict the occurrence of subsequent neurobehavioral abnormalities after brain injury by scoring and magnetic resonance imaging (MRI).Methods:7-day-old of 60 Sprague-Dawley (SD) rats were randomly divided into control group (14 rats), sham operation group (14 rats) and HIBD model group (32 rats). HIBD model was established by right common carotid artery dissection with Rice-Vannucci method and hypoxia. Within 24 h after modeling, the rats in the model group were evaluated by general condition score and Longa score, and the surviving rats with moderate and severe HIBD were selected for the experiment. 24 h after modeling, 5 rats of the model group were randomly selected for 2,3,5-triphenyltetrazole chloride staining to verify cerebral infarction. 1 week after modeling, 6 rats from each group were randomly selected for hematoxylin-eosin staining to observe HIBD brain injury. 4 weeks after modeling, 4 rats were randomly selected from the control group and the sham operation group, and 8 rats from the remaining model group were used to evaluate the volume of brain damage by MRI. 5-6 weeks after modeling, the remaining 8 rats from each group were subjected to the Cylinder test, and at 13 weeks, they underwent the Morris water maze test to evaluate their neurobehavior.Results:In HIBD model group, 19 rats with moderate to severe HIBD were selected from 32 rats. 24 h after modeling, cerebral infarction was verified in all rats, indicating moderate to severe HIBD. Brain tissue pathology observed 1 week after modeling revealed predominantly gray matter brain damage. MRI showed that 7 out of 8 rats had moderate to severe HIBD. Compared to the control and sham operation groups, the model group exhibited a significant decrease in the usage rate of the left forelimb in the Cylinder test at 5-6 weeks after modeling ( P<0.05), and the latency period in Morris water maze test was significantly prolonged at 13 weeks after modeling ( P<0.05), and the times of crossing platform quadrant were significantly reduced ( P<0.05). There was no significant difference in the right brain injury volume between 24 h and 4 weeks model group ( P>0.05). The brain injury volume in model group was negatively correlated with the usage rate of left forelimb in cylinder test at 5-6 weeks and the times of crossing platform quadrant in Morris water maze test at 13 weeks ( P<0.05), and positively correlated with latency period in Morris water maze test at 13 weeks ( P<0.05). Conclusions:Within 24 h of HIBD modeling, the severity of brain injury can be preliminarily predicted by general condition score and Longa score. 4 weeks after modeling, in the chronic phase of brain injury, MRI was proved to be an excellent predictor for mid-term and long-term neurobehavioral abnormalities in HIBD rats.
9.Anti-glioma mechanism of pterostilbene by regulating apoptosis and GSDME-mediated pyroptosis pathways: a study based on network pharmacology and experimental research.
Zhuo CHEN ; Xing-Gang FANG ; Xing-Rong GUO ; Si-Qi LUAN ; Jiao HUA ; Jie LUO
China Journal of Chinese Materia Medica 2023;48(13):3589-3601
This study aimed to explore the anti-glioma effect of natural compound pterostilbene(PTE) through regulating pyroptosis and apoptosis pathways, and to analyze the possible anti-glioma pathways and targets of PTE by network pharmacology and molecular docking. In this study, the action targets of PTE and the glioma targets were obtained by network pharmacology to construct a target network and a protein-protein interaction(PPI) network to predict the possible action targets of PTE against glioma. Molecular docking was performed on the core targets by AutoDock and the action pathways of PTE against glioma were predicted by enrichment analysis. In addition, the effect of PTE on the viability of U87MG and GL261 glioma cells was detected by CCK-8 assay. Clone formation assay and cell scratching assay were used to explore the effect of different concentrations of PTE on the proliferation and migration, respectively of glioma cells. Hoechst staining was used to observe PTE-induced apoptosis in glioma cells. The changes in mitochondrial membrane potential were detected by JC-1 staining. The pyroptosis-inducing effect of PTE on glioma cells was observed by inverted microscopy and lactate dehydrogenase(LDH) assay. Hoechst 33342/PI dual staining assay was performed to detect the integrity of glioma cell membranes. The expressions of pyroptosis and apoptosis-related proteins in glioma cells after PTE induction were determined by Western blot. In this study, 37 anti-glioma targets of PTE were obtained, and enrichment analysis suggested that PTE exerted anti-glioma effects through various signaling pathways including cancer pathway, proteoglycan in cancer, PI3K/AKT pathway, and apoptosis regulatory pathway. Molecular docking revealed that PTE had good binding activity with the main targets. Compared with the control group, PTE significantly reduced the viability as well as the proliferation, migration and adhesion abilities of U87MG and GL261 cells; it induced the apoptosis of the two glioma cells and the decrease of mitochondrial membrane potential in U87MG cells, and the effects increased with the increase of drug concentration. Compared with the conditions in the control group, glioma cells in the PTE group had increased pyroptosis-specific appearance and gradually increased LDH release; the number of PI positive cells was significantly elevated with the increase of PTE concentration as revealed by Hoechst 33342/PI staining; the expression levels of apoptosis-related factors cleaved PARP1 and B-cell lymphoma-2(Bcl-2) associated X(BAX) in the PTE group were markedly up-regulated, while the expression level of Bcl-2 was markedly down-regulated; the activation levels of pyroptosis-related proteins cleaved caspase-3 and gasdermin E-N(GSDME-N) had a remarkable rise in the PTE group, while no significant changes were found in the activation levels of gasdermin D-N(GSDMD-N) and cleaved caspase-1. In summary, PTE plays an anti-glioma role by inhibiting cell viability, proliferation, and migration and activating the caspase-3/GSDME-mediated pyroptosis pathway and mitochondrial apoptosis pathway.
Pyroptosis
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Caspase 3/metabolism*
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Network Pharmacology
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Gasdermins
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Molecular Docking Simulation
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Phosphatidylinositol 3-Kinases/metabolism*
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Apoptosis
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Proto-Oncogene Proteins c-bcl-2/metabolism*
10.Identification and 3D architecture analysis of the LIPC gene mutation in a pedigree with familial hypercholesterolemia-like phenotype.
Hang ZHANG ; Fang Yuan LI ; Yu HAO ; Xu Min WANG ; Ju ZHANG ; Ya Luan MA ; Hui ZENG ; Jie LIN
Chinese Journal of Cardiology 2023;51(7):716-721
Objective: To identify and analyze 3D architecture of the mutational sites of susceptible genes in a pedigree with familial hypercholesterolemia-like phenotype (FHLP). Methods: This is a case series study. A pedigree with suspected familial hypercholesterolemia was surveyed. The proband admitted in Beijing Anzhen Hospital in April 2019. Whole-exome sequencing was performed to determine the mutational sites of susceptible genes in the proband. Polymerase chain reaction (PCR) sequencing was used to verify the pathogenic variant on proband's relatives. The structural and functional changes of the proteins were analyzed and predicted by Discovery Studio 4.0 and PyMol 2.0. Results: The patients in the pedigree showed abnormal lipid profiles, especially elevated levels of total cholesterol(TC). The genetic screening detected the c.1330C>T SNP in the exon 8 of lipase C (LIPC) gene, this mutation leads to an amino acid substitution from arginine to cysteine at position 444 (Arg444Cys), in the proband and proband's father and brother. In this family, members with this mutation exhibited elevated TC, whereas lipid profile was normal from the proband's mother without this mutation. This finding indicated that LIPC: c.1330C>T mutation might be the mutational sites of susceptible genes. The analysis showed that Arg444Cys predominantly affected the ligand-binding property of the protein, but had a limited impact on catalytic function. Conclusion: LIPC: c.1330C>T is a new mutational site of susceptible genes in this FHLP pedigree.
Humans
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Male
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Hyperlipoproteinemia Type II/genetics*
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Lipase/genetics*
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Lipids
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Mutation
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Pedigree
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Phenotype
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Proteins

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