Jin Lu , Shaoguang An , Junjie Ma , Yue Yang , Lei Zhang , Peng Yu , Heng Tao , Yunfan Chen , Haoxuan Zhang
Objective
To investigate the expression of topoisomerase II α (TOP2α) in hepatocellular carcinoma (HCC) and its role in predicting prognosis of HCC patients.
Methods
We used HCC-related datasets in UALCAN, HCCDB, and cBioPortal databases to analyze the expression and mutation of TOP2α and its co-expressed genes in HCC tissues. GO function and KEGG pathway enrichment of TOP2α and its co-expressed genes were identified. The TIMER database was used to analyze infiltration levels of immune cells in HCC. The impacts of TOP2α and its co-expression genes and the infiltrated immune cells on the survival of HCC patients were assayed by Kaplan-Meier plotter analysis.
Results
TOP2α and its co-expression genes were highly expressed in HCC (P < 0.001) and detrimental to overall survival of HCC patients (P < 0.001). TOP2α and its co-expression genes were mainly involved in cell mitosis and proliferation, and cell cycle pathway (ID: hsa04110, P = 0.00194S). TOP2α and its co-expression genes were mutated in HCC and the mutations were significantly detrimental to overall survival (P = 0.0247) and disease-free survival (P = 0.026S) of HCC patients. High TOP2α expression was positively correlated with the infiltration of B cell (r = 0.4S9, P < 0.01), CD8+T cell (r = 0.312, P < 0.01), CD4+T cell (r = 0.370, P < 0.01), macrophage (r = 0.459, P < 0.01), neutrophil (r = 0.405, P < 0.01), and dendritic cell (r = 0.473, P < 0.01) in HCC. The CD8+T cell infiltration significantly prolonged the 3- and 5-year survival of HCC patients (all P < 0.05), and CD4+T cell infiltration significantly shortened the 3-, 5-, and 10-year survival of HCC patients (all P < 0.05)
Conclusion
TOP2α may be an oncogene, which was associated with poor prognosis of HCC patients and could be used as a biomarker for the prognostic prediction of HCC.
目的探讨拓扑异构酶II α (TOP2α)在肝细胞癌(HCC)组织中的表达及其对预后的预测作用。方法利用UALCAN、HCCDB和cBioPortal数据库中的HCC相关数据集,分析TOP2α及其共表达基因在HCC组织中的表达和突变。鉴定了TOP2α及其共表达基因的GO功能和KEGG通路富集。使用TIMER数据库分析HCC中免疫细胞的浸润水平。应用Kaplan-Meier绘图仪分析TOP2α及其共表达基因及浸润免疫细胞对肝癌患者生存的影响。结果stop2 α及其共表达基因在HCC中高表达(P <0.001),对HCC患者的总生存期不利(P <0.001)。TOP2α及其共表达基因主要参与细胞有丝分裂、增殖和细胞周期通路(ID: hsa04110, P = 0.00194S)。TOP2α及其共表达基因在HCC中发生突变,对HCC患者的总生存期(P = 0.0247)和无病生存期(P = 0.026S)均有显著影响。高表达的TOP2α与B细胞浸润呈正相关(r = 0.4S9, P <0.01), CD8+T细胞(r = 0.312, P <0.01), CD4+T细胞(r = 0.370, P <0.01),巨噬细胞(r = 0.459, P <0.01),中性粒细胞(r = 0.405, P <0.01),树突状细胞(r = 0.473, P <0.01)。CD8+T细胞浸润显著延长HCC患者的3年和5年生存率(P <CD4+T细胞浸润显著缩短HCC患者3、5、10年生存率(P <0.05)结论top2 α可能是一种致癌基因,与HCC患者预后不良相关,可作为HCC预后预测的生物标志物。
{"title":"Topoisomerase II α Gene as a Marker for Prognostic Prediction of Hepatocellular Carcinoma: A Bioinformatics Analysis","authors":"Jin Lu , Shaoguang An , Junjie Ma , Yue Yang , Lei Zhang , Peng Yu , Heng Tao , Yunfan Chen , Haoxuan Zhang","doi":"10.24920/004006","DOIUrl":"https://doi.org/10.24920/004006","url":null,"abstract":"<div><h3>Objective</h3><p>To investigate the expression of <em>topoisomerase II α</em> (<em>TOP2α</em>) in hepatocellular carcinoma (HCC) and its role in predicting prognosis of HCC patients.</p></div><div><h3>Methods</h3><p>We used HCC-related datasets in UALCAN, HCCDB, and cBioPortal databases to analyze the expression and mutation of <em>TOP2α</em> and its co-expressed genes in HCC tissues. GO function and KEGG pathway enrichment of <em>TOP2α</em> and its co-expressed genes were identified. The TIMER database was used to analyze infiltration levels of immune cells in HCC. The impacts of <em>TOP2α</em> and its co-expression genes and the infiltrated immune cells on the survival of HCC patients were assayed by <em>Kaplan-Meier</em> plotter analysis.</p></div><div><h3>Results</h3><p><em>TOP2α</em> and its co-expression genes were highly expressed in HCC (<em>P</em> < 0.001) and detrimental to overall survival of HCC patients (<em>P</em> < 0.001). <em>TOP2α</em> and its co-expression genes were mainly involved in cell mitosis and proliferation, and cell cycle pathway (ID: hsa04110, <em>P</em> = 0.00194S). <em>TOP2α</em> and its co-expression genes were mutated in HCC and the mutations were significantly detrimental to overall survival (<em>P</em> = 0.0247) and disease-free survival (<em>P</em> = 0.026S) of HCC patients. High <em>TOP2α</em> expression was positively correlated with the infiltration of B cell (<em>r</em> = 0.4S9, <em>P</em> < 0.01), CD8<sup>+</sup>T cell (r = 0.312, <em>P</em> < 0.01), CD4<sup>+</sup>T cell (<em>r</em> = 0.370, <em>P</em> < 0.01), macrophage (<em>r</em> = 0.459, <em>P</em> < 0.01), neutrophil (<em>r</em> = 0.405, <em>P</em> < 0.01), and dendritic cell (<em>r</em> = 0.473, <em>P</em> < 0.01) in HCC. The CD8<sup>+</sup>T cell infiltration significantly prolonged the 3- and 5-year survival of HCC patients (all <em>P</em> < 0.05), and CD4<sup>+</sup>T cell infiltration significantly shortened the 3-, 5-, and 10-year survival of HCC patients (all P < 0.05)</p></div><div><h3>Conclusion</h3><p><em>TOP2α</em> may be an oncogene, which was associated with poor prognosis of HCC patients and could be used as a biomarker for the prognostic prediction of HCC.</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 4","pages":"Pages 331-339"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91969987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ran Li , Zhanyun Lv , Yanxin Li , Wei Li , Yanlei Hao
Objective
To study the effects of TYRO protein kinase-binding protein (TYROBP) deficiency on learning behavior, glia activation and pro-inflammatory cycokines, andTau phosphorylation of a new Alzheimer’s disease (AD) mouse model carrying a PSEN1 p.G378E mutation.
Methods
A new AD mouse model carrying PSEN1 p.G378E mutation was built based on our previously found AD family which might be ascribed to the PSEN1 mutation, and then crossed with TYROBP deficient mice to produce the heterozygous hybrid mice (PSEN1G378E/WT; Tyrobp+/–) and the homozygous hybrid mice (PSEN1G378E/G378E; Tyrobp–/–). Water maze test was used to detect spatial learning and memory ability of mice. After the mice were sacrificed, the hippocampus was excised for further analysis. Immunofluorescence was used to identify the cell that expresses TYROBP and the number of microglia and astrocyte. Western blot was used to detect the expression levels of Tau and phosphorylatedTau (p-Tau), and ELISA to measure the levels of pro-inflammatory cytokines.
Results
Our results showed that TYROBP specifically expressed in the microglia of mouse hippocampus. Absence of TYROBP in PSEN1G378E mutation mouse model prevented the deterioration of learning behavior, decreased the numbers of microglia and astrocytes, and the levels of interleukin-6, interleukin-1β and tumor necrosis factor-α in the hippocampus (all P < 0.05). The ratios of AT8/Tau5, PHF1/Tau5, pT181/Tau5, pT231/ Tau5 and p-ERK/ERK were all higher in homozygous hybrid mice (PSEN1G378E/G378E; Tyrobp–/– mice) compared with PSEN1G378E/G378E mice (all P < 0.05).
Conclusions
TYROBP deficiency might play a protective role in the modulation of neuroinflammation of AD. However, the relationship between neuroinflammation processes involving microglia and astrocyte activation, and release of pro-inflammatory cytokines, and p-Tau pathology needs further study.
{"title":"Effects of TYROBP Deficiency on Neuroinflammation of a Alzheimer’s Disease Mouse Model Carrying a PSEN1 p.G378E Mutation","authors":"Ran Li , Zhanyun Lv , Yanxin Li , Wei Li , Yanlei Hao","doi":"10.24920/004059","DOIUrl":"https://doi.org/10.24920/004059","url":null,"abstract":"<div><h3>Objective</h3><p>To study the effects of TYRO protein kinase-binding protein (TYROBP) deficiency on learning behavior, glia activation and pro-inflammatory cycokines, andTau phosphorylation of a new Alzheimer’s disease (AD) mouse model carrying a <em>PSEN1</em> p.G378E mutation.</p></div><div><h3>Methods</h3><p>A new AD mouse model carrying <em>PSEN1</em> p.G378E mutation was built based on our previously found AD family which might be ascribed to the <em>PSEN1</em> mutation, and then crossed with TYROBP deficient mice to produce the heterozygous hybrid mice (<em>PSEN1<sup>G378E/WT</sup></em>; <em>Tyrobp<sup>+/–</sup></em>) and the homozygous hybrid mice (<em>PSEN1<sup>G378E/G378E</sup></em>; <em>Tyrobp<sup>–/–</sup></em>). Water maze test was used to detect spatial learning and memory ability of mice. After the mice were sacrificed, the hippocampus was excised for further analysis. Immunofluorescence was used to identify the cell that expresses TYROBP and the number of microglia and astrocyte. Western blot was used to detect the expression levels of Tau and phosphorylatedTau (p-Tau), and ELISA to measure the levels of pro-inflammatory cytokines.</p></div><div><h3>Results</h3><p>Our results showed that TYROBP specifically expressed in the microglia of mouse hippocampus. Absence of TYROBP in <em>PSEN1<sup>G378E</sup></em> mutation mouse model prevented the deterioration of learning behavior, decreased the numbers of microglia and astrocytes, and the levels of interleukin-6, interleukin-1β and tumor necrosis factor-<em>α</em> in the hippocampus (all <em>P <</em> 0.05). The ratios of AT8/Tau5, PHF1/Tau5, pT181/Tau5, pT231/ Tau5 and p-ERK/ERK were all higher in homozygous hybrid mice (<em>PSEN1<sup>G378E/G378E</sup></em>; <em>Tyrobp<sup>–/–</sup></em> mice) compared with <em>PSEN1<sup>G378E/G378E</sup></em> mice (all <em>P <</em> 0.05).</p></div><div><h3>Conclusions</h3><p>TYROBP deficiency might play a protective role in the modulation of neuroinflammation of AD. However, the relationship between neuroinflammation processes involving microglia and astrocyte activation, and release of pro-inflammatory cytokines, and p-Tau pathology needs further study.</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 4","pages":"Pages 320-330"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92118368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
To evaluate the clinical characteristics and prognostic predictors of patients with diffuse alveolar hemorrhage (DAH) and/or interstitial lung disease (ILD) secondary to microscopic polyangiitis (MPA) in a Chinese general hospital.
Methods
We retrospectively reviewed the medical records of MPA patients admitted to internal medicine departments between the year 2002 and 2012. The patients were divided into the ILD, DAH, DAH combined with ILD (DAHILD), and no pulmonary involvement (NPI) groups according to pulmonary involvement patterns. The clinical characteristics at diagnosis were analyzed. The risk factors associated with short-term death and long-term death were identified with Logistic regression and Cox analysis.
Results
Of 193 newly diagnosed MPA patients, 181 patients were enrolled in the research, of which 19 had DAH alone, 96 had ILD alone, 18 had DAH and DAH concurrently, and 48 had NPI. The median of serum creatine level in the DAH group was 449 µmol/L, significantly higher than that in the ILD group (123 µmol/L, Nemenyi = -35.215, P = 0.045) and DAHILD group (359 µmol/L, Nemenji = -43.609, P = 0.007). The median follow-up time was 67 (range: 1-199) months. Patients in the ILD group were older than those in the DAH group (median: 69 years vs. 57 years, Nemenji = 43.853, P = 0.005). The patients with both DAH and ILD had combined features of the two subtypes, and the highest mortality (72.2% at the end of follow-up). The elevated white blood cell count was a risk factor for short-term death (OR = 1.103, 95%CI: 1.008-1.207, P = 0.032 for one month; OR = 1.103, 95%CI: 1.026-1.186, P = 0.008 for one year). Old age (HR = 1.044, 95%C7: 1.023-1.066, P < 0.001), cardiovascular system involvement (HR = 2.093, 95%CI: 1.195-3.665, P = 0.010), poor renal function (HR = 1.001, 95%CI: 1.000-1.002, P = 0.032) were risk factors for long-term death. Pulmonary infections (38/54) were the leading causes of death, especially for the patients with ILD. Besides, 49 patients suffered from pulmonary infections in the first year after diagnosis.
Conclusions
MPA patients who presented with different pulmonary involvement patterns have completely different clinical features. These subtypes probably have different pathogenesis and should be studied separately.
目的探讨某综合医院弥漫性肺泡出血(DAH)和/或间质性肺疾病(ILD)继发于显微多血管炎(MPA)的临床特点及预后预测因素。方法回顾性分析2002 ~ 2012年内科收治的MPA患者的病历资料。根据肺受累情况将患者分为ILD组、DAH组、DAH合并ILD组(DAHILD)和无肺受累组(NPI)。分析诊断时的临床特点。通过Logistic回归和Cox分析确定与短期死亡和长期死亡相关的危险因素。结果193例新诊断的MPA患者中,181例纳入研究,其中单独DAH 19例,单独ILD 96例,DAH合并DAH 18例,NPI 48例。DAH组血清肌酸水平中位数为449µmol/L,显著高于ILD组(123µmol/L, Nemenyi = -35.215, P = 0.045)和DAHILD组(359µmol/L, Nemenyi = -43.609, P = 0.007)。中位随访时间为67个月(范围:1-199个月)。ILD组患者年龄大于DAH组(中位数:69岁vs. 57岁,Nemenji = 43.853, P = 0.005)。DAH和ILD患者具有两种亚型的综合特征,死亡率最高(随访结束时为72.2%)。白细胞计数升高是短期死亡的危险因素(OR = 1.103, 95%CI: 1.008-1.207, P = 0.032);OR = 1.103, 95%CI: 1.026-1.186, 1年P = 0.008)。老年组(HR = 1.044, 95%C7: 1.023-1.066, P <0.001)、心血管系统受累(HR = 2.093, 95%CI: 1.195 ~ 3.665, P = 0.010)、肾功能不佳(HR = 1.001, 95%CI: 1.000 ~ 1.002, P = 0.032)是长期死亡的危险因素。肺部感染(38/54)是主要死亡原因,尤其是ILD患者。49例患者在确诊后一年内出现肺部感染。结论不同肺部受累类型的smpa患者具有完全不同的临床特征。这些亚型可能有不同的发病机制,应分别研究。
{"title":"Characteristics and Prognosis of Microscopic Polyangiitis Patients with Diffuse Alveolar Hemorrhage and Interstitial Lung Disease","authors":"Yu Gu, Ting Zhang, Min Peng, Juhong Shi","doi":"10.24920/004067","DOIUrl":"10.24920/004067","url":null,"abstract":"<div><h3>Objective</h3><p>To evaluate the clinical characteristics and prognostic predictors of patients with diffuse alveolar hemorrhage (DAH) and/or interstitial lung disease (ILD) secondary to microscopic polyangiitis (MPA) in a Chinese general hospital.</p></div><div><h3>Methods</h3><p>We retrospectively reviewed the medical records of MPA patients admitted to internal medicine departments between the year 2002 and 2012. The patients were divided into the ILD, DAH, DAH combined with ILD (DAHILD), and no pulmonary involvement (NPI) groups according to pulmonary involvement patterns. The clinical characteristics at diagnosis were analyzed. The risk factors associated with short-term death and long-term death were identified with Logistic regression and Cox analysis.</p></div><div><h3>Results</h3><p>Of 193 newly diagnosed MPA patients, 181 patients were enrolled in the research, of which 19 had DAH alone, 96 had ILD alone, 18 had DAH and DAH concurrently, and 48 had NPI. The median of serum creatine level in the DAH group was 449 µmol/L, significantly higher than that in the ILD group (123 µmol/L, <em>Nemenyi</em> = -35.215, P = 0.045) and DAHILD group (359 µmol/L, <em>Nemenji</em> = -43.609, <em>P</em> = 0.007). The median follow-up time was 67 (range: 1-199) months. Patients in the ILD group were older than those in the DAH group (median: 69 years <em>vs.</em> 57 years, <em>Nemenji</em> = 43.853, <em>P</em> = 0.005). The patients with both DAH and ILD had combined features of the two subtypes, and the highest mortality (72.2% at the end of follow-up). The elevated white blood cell count was a risk factor for short-term death (<em>OR</em> = 1.103, 95%<em>CI</em>: 1.008-1.207, <em>P</em> = 0.032 for one month; <em>OR</em> = 1.103, 95%<em>CI</em>: 1.026-1.186, <em>P</em> = 0.008 for one year). Old age (<em>HR</em> = 1.044, 95%C7: 1.023-1.066, <em>P</em> < 0.001), cardiovascular system involvement (<em>HR</em> = 2.093, 95%<em>CI</em>: 1.195-3.665, <em>P</em> = 0.010), poor renal function (<em>HR</em> = 1.001, 95%<em>CI</em>: 1.000-1.002, <em>P</em> = 0.032) were risk factors for long-term death. Pulmonary infections (38/54) were the leading causes of death, especially for the patients with ILD. Besides, 49 patients suffered from pulmonary infections in the first year after diagnosis.</p></div><div><h3>Conclusions</h3><p>MPA patients who presented with different pulmonary involvement patterns have completely different clinical features. These subtypes probably have different pathogenesis and should be studied separately.</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 4","pages":"Pages 293-302"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9632720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Complex coronary heart disease (CHD) has become a hot spot in medicine due to its complex coronary anatomy, variable clinical factors, difficult hemodynamic reconstruction, and limited effect of conservative drug treatment. Identifying complex CHD and selecting optimal treatment methods have become more scientific as revascularization technology has improved, and coronary risk stratification scores have been introduced. SYNTAX and its derivative scores are decision-making tools that quantitatively describe the characteristics of coronary lesions in patients based on their complexity and severity. The SYNTAX and its derivative scores could assist clinicians in rationalizing the selection of hemodynamic reconstruction treatment strategies, and have demonstrated outstanding value in evaluating the prognosis of patients with complex CHD undergoing revascularization treatment. The authors in this article summary the practical application of SYNTAX and its derivative scores in complex CHD in order to deepen the understanding of the relationship between the choice of different revascularization strategies and SYNTAX and its derived scores in complex CHD and provide a further reference for clinical treatment of complex CHD.
{"title":"Application of SYNTAX and its Derivative Scores in the Selection of Revascularization Strategies for Complex Coronary Heart Disease","authors":"Yuxu Zhang , Rongruo Zeng , Ye Yang , Yin Shen","doi":"10.24920/004085","DOIUrl":"10.24920/004085","url":null,"abstract":"<div><p>Complex coronary heart disease (CHD) has become a hot spot in medicine due to its complex coronary anatomy, variable clinical factors, difficult hemodynamic reconstruction, and limited effect of conservative drug treatment. Identifying complex CHD and selecting optimal treatment methods have become more scientific as revascularization technology has improved, and coronary risk stratification scores have been introduced. SYNTAX and its derivative scores are decision-making tools that quantitatively describe the characteristics of coronary lesions in patients based on their complexity and severity. The SYNTAX and its derivative scores could assist clinicians in rationalizing the selection of hemodynamic reconstruction treatment strategies, and have demonstrated outstanding value in evaluating the prognosis of patients with complex CHD undergoing revascularization treatment. The authors in this article summary the practical application of SYNTAX and its derivative scores in complex CHD in order to deepen the understanding of the relationship between the choice of different revascularization strategies and SYNTAX and its derived scores in complex CHD and provide a further reference for clinical treatment of complex CHD.</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 4","pages":"Pages 340-348"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9647483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Han Li , Lijuan Qian , Nan Xu , Li Huang , Lixing Qiao
Autosomal recessive congenital ichthyosis (ARCI) is characterized by being born as collodion babies, hyperkeratosis, and skin scaling. We described a collodion baby at birth with mild ectropion, eclabium, and syndactyly. Whole exome sequencing showed a compound heterozygous variant c.[S6C>A], p.(Ser19X) and c.[100G>A], p.(Ala34Thr) in the PNPLA1 gene [NM_001145717; exon 1]. The protein encoded by PNPLA1 acts as a unique transacylase that specifically transfers linoleic acid from triglyceride to ω-hydroxy fatty acid in ceramide, thus giving rise to ω-O-acylceramide, a particular class of sphingolipids that is essential for skin barrier function. The variant was located in the patatin core domain of PNPLA1 and resulted in a truncated protein which could disrupt the function of the protein. This case report highhghts a novel compound heterozygous mutation in PNPLA1 identified in a Chinese child.
常染色体隐性先天性鱼鳞病(ARCI)的特点是出生时为胶体婴儿,角化过度和皮肤脱屑。我们描述了一个出生时患有轻度外翻、外翻和并指的胶体婴儿。全外显子组测序结果显示,PNPLA1基因[NM_001145717;外显子1]。由PNPLA1编码的蛋白质作为一种独特的转酰基酶,特异性地将亚油酸从甘油三酯转移到神经酰胺中的ω-羟基脂肪酸,从而产生ω- o -酰基神经酰胺,这是一类特殊的鞘脂,对皮肤屏障功能至关重要。该变异位于PNPLA1的patatin核心区域,导致一个截断的蛋白,可能破坏该蛋白的功能。本病例报告强调了在一名中国儿童中发现的一种新的PNPLA1复合杂合突变。
{"title":"Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report","authors":"Han Li , Lijuan Qian , Nan Xu , Li Huang , Lixing Qiao","doi":"10.24920/004009","DOIUrl":"https://doi.org/10.24920/004009","url":null,"abstract":"<div><p>Autosomal recessive congenital ichthyosis (ARCI) is characterized by being born as collodion babies, hyperkeratosis, and skin scaling. We described a collodion baby at birth with mild ectropion, eclabium, and syndactyly. Whole exome sequencing showed a compound heterozygous variant c.[S6C>A], p.(Ser19X) and c.[100G>A], p.(Ala34Thr) in the <em>PNPLA1</em> gene [NM_001145717; exon 1]. The protein encoded by <em>PNPLA1</em> acts as a unique transacylase that specifically transfers linoleic acid from triglyceride to ω-hydroxy fatty acid in ceramide, thus giving rise to ω-O-acylceramide, a particular class of sphingolipids that is essential for skin barrier function. The variant was located in the patatin core domain of <em>PNPLA1</em> and resulted in a truncated protein which could disrupt the function of the protein. This case report highhghts a novel compound heterozygous mutation in <em>PNPLA1</em> identified in a Chinese child.</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 4","pages":"Pages 349-352"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92074451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Raynaud’s phenomenon is a symptom complex manifested as intermittent fingertip ischemia caused by cold or other sympathetic drivers. Secondary Raynaud’s phenomenon is often more severe and could even lead to finger ulceration, making it particularly complicated to treat. We describe a case of severe Raynaud’s phenomenon secondary to subclinical hypothyroidism lasting for more than 6 hours in a 65-year-old woman. The patient was also diagnosed with hypothyroidism, epilepsy, and secondary soft tissue infection of the right middle and ring fingers. After careful multidisciplinary consultation and discussion, the patient received vasodilation, anticoagulation, thyroxine supplementation, stellate ganglion block, hyperbaric oxygen therapy and debridement. The patient responded well to the medication, avoiding amputation or obviously dysfunction. Multidisciplinary team gathering the doctors from different departments proposes appropriate strategies for patients with severe Raynaud’s phenomenon and could improve the prognosis and satisfaction of patient effectively.
{"title":"Multidisciplinary Treatment for Severe Secondary Raynaud’s Phenomenon: A Case Report","authors":"Cuibo Leng , Guanjun Lin , Hong Cao , Zijia Liu","doi":"10.24920/004078","DOIUrl":"10.24920/004078","url":null,"abstract":"<div><p>Raynaud’s phenomenon is a symptom complex manifested as intermittent fingertip ischemia caused by cold or other sympathetic drivers. Secondary Raynaud’s phenomenon is often more severe and could even lead to finger ulceration, making it particularly complicated to treat. We describe a case of severe Raynaud’s phenomenon secondary to subclinical hypothyroidism lasting for more than 6 hours in a 65-year-old woman. The patient was also diagnosed with hypothyroidism, epilepsy, and secondary soft tissue infection of the right middle and ring fingers. After careful multidisciplinary consultation and discussion, the patient received vasodilation, anticoagulation, thyroxine supplementation, stellate ganglion block, hyperbaric oxygen therapy and debridement. The patient responded well to the medication, avoiding amputation or obviously dysfunction. Multidisciplinary team gathering the doctors from different departments proposes appropriate strategies for patients with severe Raynaud’s phenomenon and could improve the prognosis and satisfaction of patient effectively.</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 4","pages":"Pages 353-358"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9284131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
To quantitatively evaluate the associations of infarct size, regional myocardial function examined by cardiac magnetic resonance feature tracking (CMR-FT) strain analysis with infarct location in patients with ST-segment elevation myocardial infarction (STEMI) treated by primary percutaneous coronary intervention.
Methods
Cardiac magnetic resonance images were retrospectively analyzed in 95 consecutive STEMI patients with successful reperfusion. The patients were divided into the anterior wall myocardial infarction (AWMI) and nonanterior wall myocardial infarction (NAWMI) groups. Infarct characteristics were assessed by late gadolinium enhancement. Global and regional strains and associated strain rates in the radial, circumferential and longitudinal directions were assessed by CMR-FT based on standard cine images. The associations of infarct size, regional myocardial function examined by CMR-FT strain analysis with infarct location in STEMI patients were evaluated by the Spearman or Pearson method.
Results
There were 44 patients in the AWMI group and 51 in the NAWMI group. The extent of left ventricular enhanced mass was significantly larger in patients with AWMI compared with the NAWMI group (24.47+11.89, 21.06+12.08 %LV; t = 3.928, P = 0.008). In infarct zone analysis, strains in the radial, circumferential and longitudinal directions were remarkably declined in the AWMI group compared with the NAWMI group (z = -20.873, -20.918, -10.357, all P < 0.001). The volume (end-systolic volume index), total enhanced mass and extent of enhanced mass of the left ventricular were correlated best with infarct zone strain in the AWMI group (all P < 0.001).
Conclusion
In STEMI patients treated by percutaneous coronary intervention, myocardial damage is more extensive and regional myocardial function in the infarct zone is lower in the AWMI group compared with the NAWMI group.
{"title":"Associations of Infarct Size and Regional Myocardial Function Examined by Cardiac Magnetic Resonance Feature Tracking Strain Analysis with the Infarct Location in Patients with Acute ST-Segment Elevation Myocardial Infarction","authors":"Jianing Cui, Yanan Zhao, Wei Wang, Tao Li","doi":"10.24920/004060","DOIUrl":"10.24920/004060","url":null,"abstract":"<div><h3>Objective</h3><p>To quantitatively evaluate the associations of infarct size, regional myocardial function examined by cardiac magnetic resonance feature tracking (CMR-FT) strain analysis with infarct location in patients with ST-segment elevation myocardial infarction (STEMI) treated by primary percutaneous coronary intervention.</p></div><div><h3>Methods</h3><p>Cardiac magnetic resonance images were retrospectively analyzed in 95 consecutive STEMI patients with successful reperfusion. The patients were divided into the anterior wall myocardial infarction (AWMI) and nonanterior wall myocardial infarction (NAWMI) groups. Infarct characteristics were assessed by late gadolinium enhancement. Global and regional strains and associated strain rates in the radial, circumferential and longitudinal directions were assessed by CMR-FT based on standard cine images. The associations of infarct size, regional myocardial function examined by CMR-FT strain analysis with infarct location in STEMI patients were evaluated by the <em>Spearman</em> or <em>Pearson</em> method.</p></div><div><h3>Results</h3><p>There were 44 patients in the AWMI group and 51 in the NAWMI group. The extent of left ventricular enhanced mass was significantly larger in patients with AWMI compared with the NAWMI group (24.47+11.89, 21.06+12.08 %LV; <em>t</em> = 3.928, <em>P</em> = 0.008). In infarct zone analysis, strains in the radial, circumferential and longitudinal directions were remarkably declined in the AWMI group compared with the NAWMI group (<em>z</em> = -20.873, -20.918, -10.357, all <em>P <</em> 0.001). The volume (end-systolic volume index), total enhanced mass and extent of enhanced mass of the left ventricular were correlated best with infarct zone strain in the AWMI group (all <em>P</em> < 0.001).</p></div><div><h3>Conclusion</h3><p>In STEMI patients treated by percutaneous coronary intervention, myocardial damage is more extensive and regional myocardial function in the infarct zone is lower in the AWMI group compared with the NAWMI group.</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 4","pages":"Pages 309-319"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9793075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Airway-related patient safety incident (PSI) has always been the top concern of anesthesiologists because this type of incidents could severely threaten patient safety if not treated immediately and properly. This study intends to reveal the composition, prognosis, and to identify risk factors for airway related incidents reported by anesthesiologists.
Methods
All airway related PSIs reported by anesthesiologists in a Chinese academic hospital between September 2009 and May 2022 were collected from the PSI reporting system. Patients with airway incidents reported were matched 1:1 with controls based on sex and type of surgery. Univariable and multivariable analysis were performed to find risk factors associated with airway incident occurrence, and to evaluate influence of airway PSIs on patient prognosis.
Results
Among 1,038 PSIs voluntarily reported by anesthesiologists during the study period, 281 cases (27.1 %) were airway-related incidents, with an overall reporting incidence of 4.74 per 10,000 among 592,884 anesthesia care episodes. Only ASA physical status was found to be significant independent predictor of these airway PSIs (P = 0.020). Patients with airway PSIs reported had longer extubation time (0.72 ± 1.56 d vs. 0.16 ± 0.77 d, 95%CI: 0.29 to 0.82, P < 0.001), longer ICU length of stay (LOS) (1.63 ± 5.71 d vs. 0.19 ± 0.84 d, 95%CI: 0.57 to 2.32, P = 0.001), longer post operative LOS (10.56 ± 13.09 d vs. 7.59 ± 10.76 d, 95%CI: 0.41 to 5.53, P = 0.023), and longer total in-hospital LOS (14.99 ± 15.18 dra. 11.62 ± 11.88 d, 95%CI: 0.46 to 6.27, P = 0.024).
Conclusions
This single-center retrospective case-control study describes the composition of airway-related PSIs reported by anesthesiologists within thirteen years. Airway incidents might influence patient prognosis by elongating extubation time and LOS. Airway PSI data were worth analyzing to improve patient safety.
{"title":"Risk Factors for Anesthesia-Related Airway Patient Safety Incidents: A Single-Center Retrospective Case-Control Analysis from 2009 to 2022","authors":"Xue Zhang , Lingeer Wu , Huizhen Huang , Yuelun Zhang , Zhilong Lu , Yajie Tian , Le Shen , Yuguang Huang","doi":"10.24920/004130","DOIUrl":"10.24920/004130","url":null,"abstract":"<div><h3>Objective</h3><p>Airway-related patient safety incident (PSI) has always been the top concern of anesthesiologists because this type of incidents could severely threaten patient safety if not treated immediately and properly. This study intends to reveal the composition, prognosis, and to identify risk factors for airway related incidents reported by anesthesiologists.</p></div><div><h3>Methods</h3><p>All airway related PSIs reported by anesthesiologists in a Chinese academic hospital between September 2009 and May 2022 were collected from the PSI reporting system. Patients with airway incidents reported were matched 1:1 with controls based on sex and type of surgery. Univariable and multivariable analysis were performed to find risk factors associated with airway incident occurrence, and to evaluate influence of airway PSIs on patient prognosis.</p></div><div><h3>Results</h3><p>Among 1,038 PSIs voluntarily reported by anesthesiologists during the study period, 281 cases (27.1 %) were airway-related incidents, with an overall reporting incidence of 4.74 per 10,000 among 592,884 anesthesia care episodes. Only ASA physical status was found to be significant independent predictor of these airway PSIs (<em>P</em> = 0.020). Patients with airway PSIs reported had longer extubation time (0.72 ± 1.56 d <em>vs.</em> 0.16 ± 0.77 d, 95%<em>CI</em>: 0.29 to 0.82, <em>P</em> < 0.001), longer ICU length of stay (LOS) (1.63 ± 5.71 d <em>vs.</em> 0.19 ± 0.84 d, 95%<em>CI</em>: 0.57 to 2.32, <em>P</em> = 0.001), longer post operative LOS (10.56 ± 13.09 d <em>vs.</em> 7.59 ± 10.76 d, 95%<em>CI</em>: 0.41 to 5.53, <em>P</em> = 0.023), and longer total in-hospital LOS (14.99 ± 15.18 dra. 11.62 ± 11.88 d, 95%<em>CI</em>: 0.46 to 6.27, <em>P</em> = 0.024).</p></div><div><h3>Conclusions</h3><p>This single-center retrospective case-control study describes the composition of airway-related PSIs reported by anesthesiologists within thirteen years. Airway incidents might influence patient prognosis by elongating extubation time and LOS. Airway PSI data were worth analyzing to improve patient safety.</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 4","pages":"Pages 287-292"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9324385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuanbai Li, Yu Du, Fangzhou Liu, Yiying Zhang, Meng Li, Jing Wang, Yihao Li, Yang Yang
Objective
Traditional Chinese medicine (TCM) prescriptions have been used to cure diseases in China for thousands of years, in which many TCM herbs have no definite common quantity. Some key TCM herbs are commonly used and thus deserve in-depth investigations based on a more acceptable classification method. This study analyzes whether TCM prescriptions follow Zipf's law and attempts to obtain the thresholds of key TCM herbs based on the application of Zipf's law.
Methods
A total of 84,418 TCM prescriptions were collected and standardized. We tested whether Zipf's law and Zipf's distribution fit the Chinese herb distributions. A linear fitting experiment was performed to verify the relationship between the frequency distribution and frequency of TCM herbs.
Results
The distribution of TCM herbs in TCM prescriptions conformed to Zipf's law. Accordingly, the thresholds were obtained for the key TCM herbs.
Conclusion
The distribution of TCM herbs in TCM prescriptions follows Zipf's law.
{"title":"Applicability of Zipf's Law in Traditional Chinese Medicine Prescriptions","authors":"Yuanbai Li, Yu Du, Fangzhou Liu, Yiying Zhang, Meng Li, Jing Wang, Yihao Li, Yang Yang","doi":"10.24920/004133","DOIUrl":"10.24920/004133","url":null,"abstract":"<div><h3>Objective</h3><p>Traditional Chinese medicine (TCM) prescriptions have been used to cure diseases in China for thousands of years, in which many TCM herbs have no definite common quantity. Some key TCM herbs are commonly used and thus deserve in-depth investigations based on a more acceptable classification method. This study analyzes whether TCM prescriptions follow Zipf's law and attempts to obtain the thresholds of key TCM herbs based on the application of Zipf's law.</p></div><div><h3>Methods</h3><p>A total of 84,418 TCM prescriptions were collected and standardized. We tested whether Zipf's law and Zipf's distribution fit the Chinese herb distributions. A linear fitting experiment was performed to verify the relationship between the frequency distribution and frequency of TCM herbs.</p></div><div><h3>Results</h3><p>The distribution of TCM herbs in TCM prescriptions conformed to Zipf's law. Accordingly, the thresholds were obtained for the key TCM herbs.</p></div><div><h3>Conclusion</h3><p>The distribution of TCM herbs in TCM prescriptions follows Zipf's law.</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 3","pages":"Pages 195-201"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9278265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The research and development of penicillin started with difficulty before 1949 and achieved certain results. In 1951, after the founding of the People's Republic of China, Zhang Weishen, as the only Chinese scientist who had been trained and worked in a penicillin research and development center in the United States for many years, overcame many difficulties and returned to China. In 1953, with the efforts of Zhang Weishen and his colleagues, China realized the industrialized production of penicillin, alleviating the urgent needs of the masses. Antibiotics has also become the first discipline to achieve major scientific and technological achievements after the founding of the New China. In the mid-1950s, the technical breakthrough in the localization of lactose substitutes marked the localization of the raw materials of the penicillin-producing culture medium, which paved the way for the industrialized production of penicillin with Chinese characteristics. Antibiotics have become one of the most widely used and affordable drugs for hundreds of millions of patients in China, and China has since ended the humiliating history of the “Sick Man of East Asia".
{"title":"Zhang Weishen: A Pioneer in the Development and Industrial Production of Penicillin in New China","authors":"Bin Yu, Fumin Huang, Guoxing Tang, Jing Liu","doi":"10.24920/004084","DOIUrl":"10.24920/004084","url":null,"abstract":"<div><p>The research and development of penicillin started with difficulty before 1949 and achieved certain results. In 1951, after the founding of the People's Republic of China, Zhang Weishen, as the only Chinese scientist who had been trained and worked in a penicillin research and development center in the United States for many years, overcame many difficulties and returned to China. In 1953, with the efforts of Zhang Weishen and his colleagues, China realized the industrialized production of penicillin, alleviating the urgent needs of the masses. Antibiotics has also become the first discipline to achieve major scientific and technological achievements after the founding of the New China. In the mid-1950s, the technical breakthrough in the localization of lactose substitutes marked the localization of the raw materials of the penicillin-producing culture medium, which paved the way for the industrialized production of penicillin with Chinese characteristics. Antibiotics have become one of the most widely used and affordable drugs for hundreds of millions of patients in China, and China has since ended the humiliating history of the “Sick Man of East Asia\".</p></div>","PeriodicalId":35615,"journal":{"name":"Chinese Medical Sciences Journal","volume":"37 3","pages":"Pages 282-287"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9278269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}