1.Influence of Qishen Yiqi Guttate Pills on the Clinical Efficacy of Patients with Acute Myocardial Infarction After Percutaneous Coronary Intervention
Jin-Yi LEI ; Yu XIA ; Xiao-Hong OU
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(4):835-839
Objective To observe the influence of Qishen Yiqi Guttate Pills(mainly composed of Astragali Radix,Salviae Miltiorrhizae Radix et Rhizoma,Notoginseng Radix et Rhizoma,and Dalbergiae Odoriferae Lignum)on the clinical efficacy of patients with acute myocardial infarction after percutaneous coronary intervention(PCI).Methods Sixty post-PCI patients with acute myocardial infarction of qi deficiency and blood stasis type who met the inclusion criteria were randomly divided into a treatment group and a control group,with 30 patients in each group.The control group was treated with conventional western medicine,and the treatment group was treated with Qishen Yiqi Guttate Pills on the basis of treatment for the control group.The course of treatment for the two groups lasted for 3 months.The changes of cardiac function indicators and serum levels of hypersensitive C-reactive protein(hs-CRP)and N-terminal B-type natriuretic peptide precursor(NT-pro BNP)were observed before and after the treatment in the two groups,and the incidence of cardiovascular adverse events during the treatment in the two groups were also compared.Results(1)After treatment,the serum hs-CRP and NT-pro BNP levels of patients in the two groups were significantly decreased(P<0.05)and the left ventricular ejection fraction(LVEF)was significantly increased(P<0.05)compared with those before treatment.And the effects on lowering the levels of serum hs-CRP and NT-pro BNP and on increasing LVEF of the treatment group were significantly superior to those of the control group,the differences being statistically significant(P<0.05).(2)During the treatment period,the incidence of cardiovascular adverse events in the treatment group was 6.67%(2/30),which was significantly lower than 26.67%(8/30)of the control group,and the difference was statistically significant when comparing the two groups(P<0.05).Conclusion Qishen Yiqi Guttate Pills can effectively improve cardiac function,decrease serum hs-CRP and NT-pro BNP levels,and reduce the occurrence of adverse cardiovascular events in post-PCI patients with acute myocardial infarction of qi deficiency and blood stasis type.
2.Observation on the Clinical Efficacy of Modified Xuefu Zhuyu Decoction Combined with Acupoint Application for Patients with Angina Pectoris in Coronary Heart Disease
Xiao-Hong OU ; Jin-Yi LEI ; Yu XIA ; Rong LI
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(6):1409-1415
Objective To explore the clinical efficacy of modified Xuefu Zhuyu Decoction combined with acupoint application for the treatment of patients with stable angina pectoris in coronary heart disease(SAP-CHD),and to evaluate its clinical value for the treatment of SAP-CHD.Methods A total of 92 patients with SAP-CHD of heart-blood stasis and obstruction complicated with qi deficiency type were randomly divided into control group and observation group,with 46 cases in each group.The control group was treated with conventional western medicine alone,and the observation group was treated with modified Xuefu Zhuyu Decoction combined with acupoint application on the basis of treatment for the control group.The two groups were treated for 4 weeks.The changes of traditional Chinese medicine(TCM)syndrome scores,Pittsburgh Sleep Quality Index(PSQI)scores,cardiac function indicators of left ventricular ejection fraction(LVEF),left ventricular end-systolic diameter(LVESD)and left ventricular end-diastolic diameter(LVEDD),and frequency and duration of angina pectoris in the two groups before and after treatment were observed.After treatment,the TCM syndrome efficacy in the two groups was evaluated.Results(1)After 4 weeks of treatment,the total effective rate of TCM syndrome efficacy in the observation group was 91.30%(42/46),and that of the control group was 76.09%(35/46).The intergroup comparison(tested by chi-square test)showed that the TCM syndrome efficacy in the observation group was significantly superior to that in the control group(P<0.05).(2)After treatment,the scores of TCM syndromes in the two groups were decreased compared with those before treatment(P<0.05),and the decrease in the observation group was more significant than that in the control group(P<0.05).(3)After treatment,the PSQI scores of sleep quality in the two groups were lower than those before treatment(P<0.05),and the decrease of PSQI score in the observation group was significantly superior to that in the control group after treatment(P<0.05).(4)In terms of cardiac function,LVEF in the two groups after treatment was higher than that before treatment(P<0.05),LVESD and LVEDD were lower than those before treatment(P<0.05).The increase of LVEF and the decrease of LVESD and LVEDD in the observation group were significantly superior to those in the control group after treatment(P<0.05).(5)After treatment,the frequency and duration of angina pectoris in the two groups were improved compared with those before treatment(P<0.05),and the improvement in the frequency and duration of angina pectoris in the observation group was superior to that in the control group(P<0.05).Conclusion On the basis of conventional western medicine treatment,modified Xuefu Zhuyu Decoction combined with acupoint application exerts certain clinical effect for the treatment of patients with stable angina pectoris in coronary heart disease.The combined therapy is effective on improving the cardiac function and sleep quality of the patients,reducing the attack of angina pectoris and shortening the duration of angina pectoris,with stronger efficacy than that of conventional western medicine alone.
3.Ameliorative effects of praeruptorin A from Suhuang antitussive capsules on cough variant asthma
Zi-Yao ZHAO ; Hong JIANG ; Yong-Yu OU ; Xiao-Yuan CHEN ; Nan WU ; Zi-Yu BAI ; Zhi-Hao ZHANG ; Ning-Hua TAN
Chinese Traditional Patent Medicine 2024;46(9):2904-2914
AIM To explore the effects of praeruptorin A from Suhuang antitussive capsules on cough variant asthma(CVA).METHODS The rats were randomly divided into the normal group,the model group,the dexamethasone group(0.5 mg/kg),the Suhuang antitussive capsules group(7 g/kg)and the low,medium and high dose praeruptorin A groups(15,30 and 60 mg/kg).The rat model of CVA was established by intraperitoneal injection of sensitizer(1 mg/mL ovalbumin and 10 mg/mL aluminum hydroxide)and aerosol inhalation of 1%ovalbumin followed by the corresponding dosing of drugs by gavage initiated on the 14th day.Another 14 days later,the rats had their pathological pulmonary changes observed by HE,Masson and PAS stainings;their number of inflammatory cells in bronchoalveolar lavage fluid(BALF)detected by hematology analyzer;and their levels of IL-4,IL-5,IL-13 and MUC5AC in BALF detected by ELISA.The RAW264.7 cell inflammatory model induced by lipopolysaccharide(LPS)was treated with 4,8,16 μmol/L praeruptorin A or 0.25 mg/mL Suhuang antitussive capsules,respectively.And the cells had their NO level detected by Griess method,and their ROS expression observed using fluorescence microscopy.The detections of the pulmonary and cellular mRNA expressions of IL-6,IL-1β,COX-2,iNOS and PPAR-γ by RT-qPCR;and the protein expressions of p-P65,P65,p-IκBα,IκBα,NLRP3,caspase-1(p20)and IL-1β by Western blot were conducted in both the cells and the rats.RESULTS The in vivo result showed that praeruptorin A reduced the cough frequency(P<0.01);prolonged the cough latency(P<0.05,P<0.01);reduced the number of eosinophils and neutrophils in BALF(P<0.05,P<0.01);decreased the levels of IL-4,IL-5,IL-13 and MUC5AC in BALF and the pulmonary mRNA expressions of IL-6,IL-1β,COX-2 and iNOS(P<0.05,P<0.01);and decreased the phosphorylation of P65 and IκBα protein and NLRP3,caspase-1(p20)and IL-1β protein expressions(P<0.05,P<0.01)as well.The in vitro result showed that praeruptorin A inhibited the release of LPS-induced NO and reduce the ROS level(P<0.01);decreased the mRNA expressions of IL-1β,COX-2 and iNOS(P<0.05,P<0.01);increased PPAR-γ mRNA expression(P<0.05),and decreased the phosphorylation of P65 and IκBα protein and the expression of NLRP3 protein(P<0.05,P<0.01).CONCLUSION Praeruptorin A,one of the main antitussive components of Suhuang antitussive capsules,may improve CVA because of its anti-inflammatory and antitussive role by inhibiting the activation of NF-κB signaling pathway and reducing the expression of NLRP3 inflammatory corpuscles.
4.Prevalence and risk factors of metabolic syndrome among adults in Hainan Province
JIANG Juan ; WANG Xing-ren ; WU Hong-ying ; WANG Xiao-huan ; OU Ting-ting
China Tropical Medicine 2023;23(6):625-
Abstract: Objective This study aims to explore the prevalence and risk factors of metabolic syndrome (MS) among the adults in Hainan Province, and to provide scientific basis for MS prevention and control. Methods A multi-stage cluster random sampling method was applied to select 3 690 permanent residents aged 18 years and above in Hainan Province. The survey was conducted by trained investigators using household appointments and centralized surveys. A questionnaire survey, physical measurement, and laboratory examination were conducted after the collection of blood samples. The processed samples were then tested by a quality-controlled laboratory. Finally, we analysed the prevalence of metabolic syndrome (MS) and its relationship with population characteristics and health-related behaviors. Results The crude prevalence of MS in the population aged 18 and above in Hainan province was 19.46% and the standardized prevalence was 13.21%, with a higher rate in urban areas (22.21%) than in rural areas (18.13%). The prevalence of MS increased with age (P<0.001), and there were significant differences in MS prevalence among different marital and occupational statuses (P<0.01). Logistic regression results indicated that the age groups of 40-<50 years (OR=2.986, 95%CI:1.355-6.580), 50-<60 years (OR=3.739, 95%CI: 1.715-8.151), 60-<70 years (OR=3.890, 95%CI: 1.769-8.556), 70 years and above (OR=3.927, 95%CI: 1.758-8.771), technical, transportation and production personnel (OR=1.579, 95%CI: 1.033-2.412), retired (OR=1.788, 95%CI: 1.415-2.259), unemployed (OR=1.503, 95%CI: 1.044-2.165), smoking cessation (OR=1.582, 95%CI: 1.162-2.154), insufficient intake of fruits and vegetables (OR=1.196, 95%CI: 1.005-1.422), and insufficient physical activity (OR=1.437, 95%CI: 1.155-1.787) were all associated with the prevalence of MS. Among the investigated subjects, 30.22% of them had one abnormal component, with hyperglycemia being the highest (54.44%); 24.25% of them had two abnormal components, with "hyperglycemia + hypertension" being the highest (33.30%); and 19.46% had three or more components, with "overweight/obesity + hyperglycemia + hypertension" being the highest (24.79%). Conclusions The prevalence of MS in Hainan Province is on the rise, and effective lifestyle intervention measures are needed to reduce the risk of MS.
5.Clinical features and long-term prognosis of primary biliary cholangitis in patients with past hepatitis B virus infection.
Shu Xiang LI ; Wei Jia DUAN ; Bu Er LI ; Sha CHEN ; Ting Ting LYU ; Xiao Ming WANG ; Yu WANG ; Xin Yan ZHAO ; Xiao Juan OU ; Hong MA ; Hong YOU ; Ji Dong JIA
Chinese Journal of Hepatology 2023;31(7):705-709
Objective: To investigate the clinical features and long-term prognosis of primary biliary cholangitis (PBC) in patients with past hepatitis B virus (HBV) infection. Methods: 353 cases with PBC who visited the Liver Disease Center of Beijing Friendship Hospital Affiliated to Capital Medical University between January 2000 and January 2018 were retrospectively analyzed and were divided into the past HBV infection group (156 cases) and the no HBV infection group (197 cases). The two groups' baseline clinical features were compared. Ursodeoxycholic acid response rate after one year, GLOBE score, UK-PBC score, and long-term liver transplantation-free survival rate were compared through outpatient and telephone follow-up. Results: PBC with past HBV infection had a significantly reduced female proportion compared to the no HBV infection group (91.9% vs. 79.5%, P = 0.001). However, there were no statistically significant differences in age, biochemical indices, immunological indicators, platelet count, cirrhosis proportion, and others. Ursodeoxycholic acid biochemical response rate was reduced in patients with past HBV infection at the end of one year of treatment, but the difference was not statistically significant (65.8% vs. 78.2%, P = 0.068). In addition, there were no statistically significant differences between the GLOBE score (0.57 vs. 0.59, P = 0.26) and UK-PBC 5-year (2.87% vs. 2.87%, P = 0.38), 10-year (9.29% vs. 8.2%, P = 0.39) and 15-year liver transplantation rates (16.6% vs. 14.73%, P = 0.39). Lastly, the overall 5-year liver transplantation-free survival rate had no statistically significant difference between the two groups of patients (86.4% vs. 87.5%, P = 0.796). Conclusion: Primary biliary cholangitis had no discernible effect in terms of age at onset, biochemical indices, immunological indicators, cirrhosis proportion, ursodeoxycholic acid response rate after one year, GLOBE score, UK-PBC score, or overall liver transplantation-free survival rate in patients with past hepatitis B virus infections.
6.Incidence of extrauterine growth retardation and its risk factors in very preterm infants during hospitalization: a multicenter prospective study.
Wei SHEN ; Zhi ZHENG ; Xin-Zhu LIN ; Fan WU ; Qian-Xin TIAN ; Qi-Liang CUI ; Yuan YUAN ; Ling REN ; Jian MAO ; Bi-Zhen SHI ; Yu-Mei WANG ; Ling LIU ; Jing-Hui ZHANG ; Yan-Mei CHANG ; Xiao-Mei TONG ; Yan ZHU ; Rong ZHANG ; Xiu-Zhen YE ; Jing-Jing ZOU ; Huai-Yu LI ; Bao-Yin ZHAO ; Yin-Ping QIU ; Shu-Hua LIU ; Li MA ; Ying XU ; Rui CHENG ; Wen-Li ZHOU ; Hui WU ; Zhi-Yong LIU ; Dong-Mei CHEN ; Jin-Zhi GAO ; Jing LIU ; Ling CHEN ; Cong LI ; Chun-Yan YANG ; Ping XU ; Ya-Yu ZHANG ; Si-Le HU ; Hua MEI ; Zu-Ming YANG ; Zong-Tai FENG ; San-Nan WANG ; Er-Yan MENG ; Li-Hong SHANG ; Fa-Lin XU ; Shao-Ping OU ; Rong JU
Chinese Journal of Contemporary Pediatrics 2022;24(2):132-140
OBJECTIVES:
To investigate the incidence of extrauterine growth retardation (EUGR) and its risk factors in very preterm infants (VPIs) during hospitalization in China.
METHODS:
A prospective multicenter study was performed on the medical data of 2 514 VPIs who were hospitalized in the department of neonatology in 28 hospitals from 7 areas of China between September 2019 and December 2020. According to the presence or absence of EUGR based on the evaluation of body weight at the corrected gestational age of 36 weeks or at discharge, the VPIs were classified to two groups: EUGR group (n=1 189) and non-EUGR (n=1 325). The clinical features were compared between the two groups, and the incidence of EUGR and risk factors for EUGR were examined.
RESULTS:
The incidence of EUGR was 47.30% (1 189/2 514) evaluated by weight. The multivariate logistic regression analysis showed that higher weight growth velocity after regaining birth weight and higher cumulative calorie intake during the first week of hospitalization were protective factors against EUGR (P<0.05), while small-for-gestational-age birth, prolonged time to the initiation of total enteral feeding, prolonged cumulative fasting time, lower breast milk intake before starting human milk fortifiers, prolonged time to the initiation of full fortified feeding, and moderate-to-severe bronchopulmonary dysplasia were risk factors for EUGR (P<0.05).
CONCLUSIONS
It is crucial to reduce the incidence of EUGR by achieving total enteral feeding as early as possible, strengthening breastfeeding, increasing calorie intake in the first week after birth, improving the velocity of weight gain, and preventing moderate-severe bronchopulmonary dysplasia in VPIs.
Female
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Fetal Growth Retardation
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Gestational Age
;
Hospitalization
;
Humans
;
Incidence
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Infant
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Infant, Newborn
;
Infant, Premature
;
Infant, Very Low Birth Weight
;
Prospective Studies
;
Risk Factors
7.Obstacles in the Practice of Palliative Care Consultation Services in Grade A Tertiary Hospitals.
Xiao-Hong NING ; Yu ZHANG ; Rui SHA ; Tie-Kuan DU ; Jie LI ; Xiao-Yan DAI ; Wei LIU ; Qian LIU ; Xiao-Xuan ZHAO ; Hai-Ou ZOU
Acta Academiae Medicinae Sinicae 2022;44(5):750-756
Objective To explore the obstacles in palliative care consultation services and put forward the suggestions for improving the services in grade A tertiary hospitals. Methods A semi-structured interview was conducted with 17 medical workers who had requested palliative care consultation services in Peking Union Medical College Hospital. Results The palliative care consultation services were hindered by five obstacle factors including insufficient knowledge of patients and their families about palliative care,unsound understanding of medical workers about palliative care,poor implementation of consultation opinions,limited labor of palliative care team,and poor economic benefits from palliative care.In view of such obstacles,the following suggestions were put forward,which included increasing the acceptance of palliative care by patients and their families,enriching the knowledge of medical staff on palliative care,establishing a new cooperation model between consultation team and medical staff,strengthening the institutional guarantee for the development of palliative care,and establishing and perfecting the laws and policies related to palliative care. Conclusion Although there are many difficulties in the in-hospital palliative care consultation services in grade A tertiary hospitals,the demand and expectation of medical staff for palliative care are still increasing.
Humans
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Palliative Care
;
Tertiary Care Centers
;
Referral and Consultation
;
Hospitalization
8.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
;
Child
;
China/epidemiology*
;
Cryptorchidism/genetics*
;
Disorders of Sex Development/genetics*
;
Female
;
Genital Diseases, Male
;
Genotype
;
Humans
;
Hypospadias/genetics*
;
Male
;
Membrane Proteins/genetics*
;
Penis/abnormalities*
;
Phenotype
;
Retrospective Studies
;
Steroid 21-Hydroxylase/genetics*
9.Clinical application of serum Golgi protein 73 in patients with chronic liver diseases.
Yan Na LIU ; Ming Jie YAO ; Su Jun ZHENG ; Xiang Mei CHEN ; Xiang Yi LIU ; Peng HU ; Qi Shui OU ; Xiao Guang DOU ; Hong Song CHEN ; Zhong Ping DUAN ; Jin Lin HOU ; Yue Min NAN ; Zhi Liang GAO ; Xiao Yuan XU ; Hui ZHUANG ; Feng Min LU
Chinese Journal of Hepatology 2022;30(1):4-8
Golgi protein 73 (GP73) is a transmembrane protein on the Golgi apparatus and can be cut and released into the blood. In recent years, an increasing number of clinical studies have shown that the elevated serum GP73 level is closely related to liver diseases. And thus GP73 is expected to be used as a new serum marker for assessing progress of chronic liver diseases. Herein, the clinical application of serum GP73 in chronic hepatitis, liver fibrosis, liver cirrhosis and hepatocellular carcinoma with different etiologies was reviewed based on available literatures; and a research outlook in this field is made.
Biomarkers
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Carcinoma, Hepatocellular
;
Golgi Apparatus
;
Humans
;
Liver Cirrhosis
;
Liver Neoplasms
10.A monogenic lupus family caused by homozygous deletions of DNASE1L3 gene and literature review.
Wei WANG ; Xiao Lin LI ; Wen Dao LI ; Jun Bin OU ; Si Hao GAO ; Cai Hui ZHANG ; Yu Ling LIU ; Zhi Cai SUN ; Ming Sheng MA ; Hong Mei SONG
Chinese Journal of Pediatrics 2022;60(12):1276-1281
Objective: To report the clinical features and genetic variations of monogenic lupus caused by DNASE1L3 deficiency and to introduce preliminary experience on diagnosis and treatment for this disease. Methods: Clinical data of 3 children from the same pedigree were collected who were diagnosed with DNASE1L3 defect-associated monogenic lupus in August 2020 by Department of Pediatrics, Peking Union Medical College Hospital referred from Department of Pediatrics, Boai Hospital of Zhongshan. DNA was extracted from the peripheral blood of the patients and their parients to perform genetic analysis and confirmation. Six interferon-stimulated genes were relatively quantified to examine the activation of the type I interferon signaling. "DNASE1L3" "systemic lupus erythematosus" and "SLE" were searched in PubMed, Wangfang Data, CNKI databases for related reports from database established date to June 2022. Spectrum of genetic variations and clinical phenotypes were analyzed in combination with this pedigree. Results: Case 1, a 14-year-old girl with edema, hematuria, and heavy proteinuria, presented with membranous nephropathy. Case 2, the 12-year-old younger brother of case 1 with hematologic, cardiac, pulmonary, renal involvement, positive antinuclear antibody, positive anti-double-stranded DNA antibody and low complement C3, manifested with systemic lupus erythematosus. Case 3, the 8-year-old younger sister of case 1 with hematologic, cardiac, pulmonary and renal involvement, positive antinuclear antibody, positive anti-double-stranded DNA antibody, and low complement C3 and C4, manifested with systemic lupus erythematosus. Genetic testing revealed that all 3 patients carried homozygous deletions in exons 3 and 4 on DNASE1L3 gene. Interferon scores were elevated in case 1, 2 and their parents but normal in case 3. All 3 patients were diagnosed with monogenic lupus caused by DNASE1L3 defects. Literature searching identified 10 relevant publications in English and 0 publication in Chinese, involving 42 patients from 18 pedigrees (including the 3 cases from this pedigree). Nine variants were found: c.289_290delAC (p.T97Ifs*2), c.643delT (p.W215Gfs*2), c.320+4delAGTA, c.321-1G>A, Ex5 del, c.433G>A, c.581G>A (p.C194Y), c.537G>A (p.W179X), and Ex3-4 del. The hotspot variants were c.643delT (43% (36/84)) and c.289_290delAC (36% (30/84)). Kidney was affected in 31 cases (74%) of the 42 cases. Among the 25 patients, joints were affected in 16 cases (64%), fever were reported in 13 cases (52%) hematologic system was involved 13 cases (52%), rash was present in 10 cases (40%), intestinal tract was involved in 8 cases (32%), lungs were involved in 6 cases (24%), eyes were involved in 4 cases (16%), and the heart was involved in 4 cases (16%). The 2 cardiopulmonary affected patients from literature showed poor prognosis, with 1 died, and 1 right heart failure. Conclusions: The clinical manifestations of monogenic lupus caused by DNASE1L3 defect are highly heterogenous, primarily with renal, blood, joint, intestinal, and cardiopulmonary involvement. There is no correlation between the genotype and the phenotype. DNASE1L3 defects were predominantly mediated by null varations including nonsense, splicing, frameshift and exon deletions. The hotspot variants are c.643delT and c.289_290delAC. DNASE1L3 defects should be cautioned in early-onset lupus-like patients with renal, joint and hematologic involvement. Cardiopulmonary involved patients require close monitoring for poor prognosis. Copy number variations should be carefully analyzed after negative whole exome sequencing.
Male
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Child
;
Humans
;
Homozygote
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Complement C3
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Antibodies, Antinuclear
;
DNA Copy Number Variations
;
Sequence Deletion
;
Interferons
;
Lupus Erythematosus, Systemic/genetics*
;
Antiviral Agents
;
Endodeoxyribonucleases

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