1.From Bedside to Molecular Diagnosis-Multidisciplinary Treatment of a Rare Case of Autoinflammatory Disease Presenting with Skin Induration and Limb Weakness
Hanhui FU ; Wenjun WANG ; Yaping LIU ; Hui YOU ; Tao WANG ; Wen ZHANG ; Xuejun ZENG ; Liying CUI ; Huijuan ZHU ; Xiuli ZHAO ; Min SHEN ; Yicheng ZHU
JOURNAL OF RARE DISEASES 2026;5(2):207-213
This article reports a rare case of autoinflammatory disease presenting initially with skin induration and swelling after trauma as the initial manifestation, followed by progressive limb weakness. The patient was a middle-aged female who developed skin induration and swelling after trauma, which gradually progressed to limb weakness, dysarthria and bilateral facial paralysis, accompanied by livedo reticularis of the lower extremities, diffuse skin induration of the limbs, and beaded subcutaneous nodules in the right upper limb. The patient had a susceptibility to infection since childhood and a history of chronic livedo reticularis. Skin pathological examination revealed panniculitis. A comprehensive etiological screening for special infections and autoimmune diseases was completed with an unremarkable results, and whole-exome sequencing showed no abnormal findings. Following a multidisciplinary discussion combined with RNA sequencing results, the patient was diagnosed with an autoinflammatory disease, with a suspected type Ⅰ interferonopathy. Treatment with tofacitinib resulted in gradual improvement of clinical symptoms. This case highlights the importance of detailed medical history collection, systematic physical examination and multidisciplinary collaborative diagnosis and treatment, and underscores the pivotal role of molecular diagnosis in the confirmation of rare diseases. It can provide a reference for the clinical diagnosis and management of similar rare cases.
2.Differences in deltamethrin resistance and kdr gene mutation in Culex tritaeniorhynchus population in and outside the Yellow Sea wetland
Xiao-er ZHANG ; Zhi-ming WU ; Ye TIAN ; Qian CUI ; Yu-qian JI ; Huan WANG ; Shu-juan YANG ; Yi-chao ZHAO ; Yu WANG ; Hua-yu YIN ; Yu DING ; Guo-jin YAN ; Min-sen ZHAO ; Shou-gang ZHANG ; Bing-dong SONG ; Hong-na CHEN ; Jian GAO ; Wei-fang YANG ; Yu-fu ZHANG ; Hui LIU ; Hong-liang CHU
Acta Parasitologica et Medica Entomologica Sinica 2026;33(2):101-107
Objective To gain insights into the biological characteristics of different populations of Culex tritaeniorhynchus within and around the Yellow Sea wetland from the perspective of the occurrence of resistance, we investigated the levels of resistance to deltamethrin and kdr gene mutation in the wetland and its peripheral areas. Methods Specimens were collected from Cx. tritaeniorhynchus populations at two monitoring sites in the Rare Bird National Nature Reserve and Tiaozi Ni Wetland Scenic Area, and also from two populations in Yancheng City and the Liuhe District of Nanjing, and the resistance of these mosquitoes to deltamethrin was determined using the CDC biotest bottle method. For each concentration of deltamethrin assessed, a random subset of exposed specimens was selected for amplification of the kdr gene fragment, followed by Sanger sequencing to identify and analyze resistance-associated mutations. Results The LC50 levels of deltamethrin among mosquitoes from the four populations in Luhe, Yancheng, the Rare Bird National Nature Reserve and the Tiaozi Ni Wetland Scenic Area were 2.048 5, 7.798 2, 3.473 3, and 17.695 5 mg/mL, respectively, with corresponding concentrations of deltamethrin ranging from 0.005 to 5.000,0.050 to 50.000,0.050 to 25.000 and 0.050 to 50.000 mg/mL, respectively. Furthermore, the ranges of the KT50 values were 11.76-107.43, 67.05-216.30,29.77-107.43 and 28.40-329.51 min; the 1-h knockdown rates were 34.58%-99.15%, 9.52%-43.80%, 55.09%-73.01%, and 10.09%-68.07%; and the 24-h mortality rates were 12.15%-67.52%,9.52%-79.56%,13.17%-82.21%, and 11.01%-78.99%, respectively. With respect to kdr gene mutation, we assayed a total of 63,70,59, and 57 mosquitoes for the four populations, for which we detected L1014F mutation frequencies of 14.29%, 35.00%, 20.34%, and 31.58%, respectively, with a majority of these mutations being heterozygous for resistance. In addition, five adult mosquitoes were identified has having synonymous mutations at site 1011[i. e. , AAT(asparagine)mutation to AAC(asparagine)]. Conclusions Our findings revealed the clear resistance of Cx. tritaeniorhynchus to deltamethrin in the Yancheng region of the Yellow Sea wetland, and the resistance phenotype and kdr frequency of Cx. tritaeniorhynchus in the wetland environment were comparable to those of Cx. tritaeniorhynchus in the wetland environment, thereby indicating that the resistance of different populations of Cx. tritaeniorhynchus was homogeneous under the pressure of different insecticide selection within and around the wetland. However, the underlying mechanisms need to be further studied.
3.Dipsacus asper Treats Alzheimer's Disease in Caenorhabditis elegans by Regulating PPARα/TFEB Pathway
Mengmeng WANG ; Jianping ZHAO ; Limin WU ; Shuang CHU ; Yanli HUANG ; Zhenghao CUI ; Yiran SUN ; Pan WANG ; Hui WANG ; Zhenqiang ZHANG ; Zhishen XIE
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(5):104-114
ObjectiveTo investigate the anti-Alzheimer's disease (AD) effect of Dipsacus asper(DA) in the Caenorhabditis elegans model, and decipher the underlying mechanism via the peroxisome proliferator-activated receptor α (PPARα)/transcription factor EB (TFEB) pathway. MethodsFirst, transgenic AD C. elegans individuals were assigned into the blank control, model, positive control (WY14643, 20 µmol·L-1), and low-, medium-, and high-dose (100, 200, and 400 mg·L-1, respectively) DA groups. The amyloid β-42 (Aβ42) formation in the muscle cells, the paralysis time, and the deposition of amyloid β-protein (Aβ) in the head were detected. The lysosomal autophagy in the BV2 cell model was examined by Rluc-LC3wt/G120A. The expression levels of lysosomal autophagy-related proteins LC3Ⅱ, LC3I, LAMP2, and TFEB were detected by Western blot. Real-time quantitative polymerase chain reaction (Real-time PCR) was employed to determine the mRNA levels of autophagy-related genes beclin1 and Atg5 and lysosome-related genes LAMP2 and CLN2 downstream of PPARα/TFEB. A reporter gene assay was used to detect the transcriptional activities of PPARα and TFEB. Immunofluorescence was used to detect the fluorescence intensity of PPARα, and the active components of the ethanol extract of DA were identified by UPLC-MS. RCSB PDB, Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP), and Autodock were used to analyze the binding between the active components and PPARα-ligand-binding domain (LBD). ResultsCompared with the model group, the positive control group and 200 and 400 mg·L-1 DA groups showed prolonged paralysis time (P<0.05), and all the treatment groups showed decreased Aβ deposition in the head (P<0.01). DA within the concentration range of 50-500 mg·L-1 did not affect the viability of BV2 cells. In addition, DA enhanced the autophagy flux (P<0.05), up-regulated the mRNA levels of beclin1, Atg5, LAMP2, and CLN2 (P<0.05, P<0.01), promoted the nuclear translocation of TFEB (P<0.05), increased LAMP2 expression and autophagy flux (P<0.05, P<0.01), and enhanced the transcriptional activities of PPARα and TFEB (P<0.01). The positive control group and 200 and 400 mg·L-1 DA groups showed enhanced fluorescence intensity of PPARα in the BV2 nucleus (P<0.01). UPLC-MS detected nine known compounds of DA, from which 8 active components of DA were screened out. The docking results suggested that a variety of components in DA could bind to PPARα-LBD and form stable hydrogen bonds. ConclusionDA may reduce the pathological changes in AD by regulating the PPARα-TFEB pathway.
4.Identification of a Fetal De Novo Splice Variant in ARCN1 Associated With Growth and Skeletal Abnormalities
Wencong HE ; Zejun YANG ; Jianjian CUI ; Ruilin MA ; Hui TAO ; Yanan LI ; Yin ZHAO
Maternal-Fetal Medicine 2025;07(1):9-14
Objective::To report a fetus with ARCN1-related syndrome caused by a novel de novo heterozygous variant, highlighting the importance of early genetic diagnosis in prenatal care. Methods::The clinical and genetic data of a fetus with a complex combination of clinical signs and a novel de novo heterozygous variant were collected and have been summarized in this study. The potential pathogenic variant was identified throughout the whole exome sequencing and the effects of candidate variants were further validated by a minigene splicing assay. Results::Prenatal systematic ultrasound detected fetal growth restriction. Genetic analysis identified a novel de novo heterozygous variant within the ARCN1 gene—c.1241 +5G>A-located in intron 8. In vitro minigene splicing assays demonstrated that the variant led to two abnormal transcripts. The longer transcript retained 189 base pairs of intron 8, resulting in a truncated protein of 414 amino acids (p.Ser415*). The shorter transcript involved exon 8 skippings, producing a truncated protein of 407 amino acids (p.Ile378Serfs*31). Conclusion::A novel de novo heterozygous variant of the ARCN1 gene, namely NM_001655.5: c.1241 +5G>A, was discovered and identified in a fetus with rhizomelic short stature, microretrognathia, and developmental delays.
5.Multicenter Retrospective Evaluation of the Chinese Expert Consensus Scoring System for the Diagnosis of Obstetrical DIC
Jianjian CUI ; Ziyang LIU ; Wencong HE ; Ruifen SU ; Ruilin MA ; Hui TAO ; Zejun YANG ; Lei SUN ; Shaoqi CHEN ; Yanan LI ; Zhishan JIN ; Yin ZHAO
Maternal-Fetal Medicine 2025;07(4):216-227
Objective::To evaluate the diagnostic efficacy and clinical application of the Obstetrical Chinese Disseminated Intravascular Coagulation (DIC) Scoring System (OCDSS).Methods::This study is a retrospective study that collected 1063 cases from Wuhan Union Hospital, Yichang Central People’s Hospital, and the Central Hospital of Enshi Tujia and Miao Autonomous Prefecture between July 2017 and June 2024. These cases were divided into DIC and non-DIC groups based on score standard. Diagnosis of DIC, the rate of hysterectomy, neonatal mortality, and severe asphyxia are the main outcome measures. All the laboratory indicators are all determined by clinical laboratory department of the hospital. Data were expressed as mean ± standard deviation or median (interquartile range) and frequencies. Independent sample t-test or non-parametric test were used to compare measurement data, while the chi-square test was used for count data. Receiver operating characteristic (ROC) curve and area under curve (AUC) were used to test the predictive accuracy. Using univariate and multivariate logistic regression analysis to study the high-risk factors. P < 0.050 indicates a statistical significance. Results::Of 1063 participants in this study, 29 participants (2.73%) were diagnosed with obstetrical DIC by OCDSS score standard, and all the participants were diagnosed as DIC with underlying disease. When the Takao, Clark, and Erez score standard is the "gold standard", the OCDSS score standard always shows good sensitivity and specificity, with all the AUC over 0.75. OCDSS score standard also has better predictive of hysterectomy (68.18%, 91.07%, 0.872), severe neonatal asphyxia and death (79.17%, 75.07%, 0.842) than the other three score standards. All the indicators included in the OCDSS score standard contributed to the DIC diagnosis (all the P < 0.001). The indicators in the DIC group were more abnormal than the non-DIC group (all the P < 0.001). Conclusion::OCDSS is a first score standard, especially for pregnancies, it considers the underlying disease, clinical symptoms, and laboratory results. This score system shared a good diagnosis performance for DIC in the Chinese population and may help clinicians make timely decisions.
6.Efficacy and safety of acupuncture therapies for adult patients with mild and moderate major depressive disorder: A systematic review and meta-analysis.
Hong-Jun KUANG ; Hui-Sheng YANG ; Yi-Xuan FENG ; Han TANG ; Qi FAN ; Yu-Qin XU ; Shuo CUI ; Richard MUSIL ; Hedi LUXENBURGER ; Yi-Xuan ZHANG ; Hong ZHAO ; Yu-Qing ZHANG
Journal of Integrative Medicine 2025;23(5):471-491
BACKGROUND:
Acupuncture therapy provides a complementary and alternative approach to treating major depressive disorder (MDD), but its efficacy and safety have still not been comprehensively assessed. Recently published systematic reviews remain confusing and inconclusive.
OBJECTIVE:
This systematic review evaluated the efficacy and safety of acupuncture therapy alone or combined with antidepressants for adult patients with mild and moderate MDD.
SEARCH STRATEGY:
Chinese Biomedical Literature Database, China National Knowledge Infrastructure Database, Wanfang Database, Chinese Science and Technology Journal Database, PubMed, Embase, and Cochrane Library were searched from their inceptions to March 2025.
INCLUSION CRITERIA:
Randomized controlled trials that compared acupuncture therapy with antidepressants, or acupuncture therapy plus antidepressants with acupuncture therapy or antidepressants for adult patients with mild and moderate MDD were included.
DATA EXTRACTION AND ANALYSIS:
Five reviewers independently extracted data from original literature using a standardized form, and the data were verified by two reviewers to ensure accuracy. Statistical meta-analyses, publication bias analyses, and subgroup analyses were performed by using Review Manager 5.3 software. The Grading of Recommendations Assessment, Development, and Evaluation approach was used to assess the certainty of the evidence.
RESULTS:
A total of 60 eligible studies including 4675 participants were included. Low-certainty evidence showed that compared with antidepressants, acupuncture therapy (standardized mean difference [SMD] = -0.57; 95% confidence interval [CI] = [-0.87, -0.27]; I2 = 86%; P = 0.006) or acupuncture therapy plus antidepressants (SMD = -1.00; 95% CI = [-1.18, -0.81]; I2 = 77%; P < 0.00001) may reduce the severity of depression at the end of treatment. Low-certainty evidence indicated that compared with acupuncture therapy alone, acupuncture therapy plus antidepressants slightly reduced the severity of depression at the end of treatment (SMD = -0.38; 95% CI = [-0.61, -0.14]; I2 = 18%; P = 0.002). Similar results were also found for acupuncture's relief of insomnia. The reported adverse effects of acupuncture therapy were mild and transient. For most of the subgroup analyses, acupuncture type, scale type, and the course of treatment did not show a significant relative effect.
CONCLUSION
Acupuncture therapy may provide antidepressant effects and relieve insomnia with mild adverse effects for adult patients with mild and moderate MDD. But the certainty of evidence was very low. More high-quality, well designed, large-scale studies with long-term follow-up are needed in the future. Please cite this article as: Kuang HJ, Yang HS, Feng YX, Tang H, Fan Q, Xu YQ, Cui S, Musil R, Luxenburger H, Zhang YX, Zhao H, Zhang YQ. Efficacy and safety of acupuncture therapies for adult patients with mild and moderate major depressive disorder: A systematic review and meta-analysis. J Integr Med. 2025; 23(5):471-491.
Humans
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Acupuncture Therapy/methods*
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Depressive Disorder, Major/therapy*
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Adult
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Antidepressive Agents/therapeutic use*
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Treatment Outcome
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Randomized Controlled Trials as Topic
7.Construction of goal management training program and its efficacy for mental health intervention in college students with inattentive attention deficit hyperactivity disorder
Hui HENG ; Yingcan ZHENG ; Ying HE ; Hong SU ; Yunxuan ZHAO ; Feijuan CUI ; Guoyu YANG
Journal of Army Medical University 2025;47(5):480-488
Objective To explore the efficacy of goal management training(GMT)on core symptoms and mental status in college students with attention deficit hyperactivity disorder(ADHD)inattentive type.Methods Delphi method was used to construct a GMT program for college students with inattentive ADHD.Then,totally 68 college students with inattentive ADHD were recruited through advertisements published by hospitals and universities(Second Affiliated Hospital of Army Medical University,and 3 universities in Chongqing from March to June 2024.The subjects were randomly divided into an intervention group(n=34)and a control group(n=34).The intervention group received GMT for 2 h,once a week,for 7 weeks,and the control group did not receive training for the time being.The 2 groups were evaluated within 1 week before and in 7 weeks after intervention by using Adult ADHD Self-Report Scale(ASRS),Dysregulation of Emotions Rating Scale(DERS),Generalized Anxiety Disorde-7(GAD-7),Patient Health Questionnaire-9(PHQ-9),Self-Compassion Scale(SCS),and Satisfaction with Life Scale(SWLS).Results ① The expert authority coefficient(Cr)of 2 rounds of expert consultation was 0.83,with a questionnaire recovery rate of 100%and 95%,respectively,the Kendall's coordination coefficient was 0.081(P<0.01)and 0.226(P<0.01),and the coefficient of variation was<0.3,indicating the results of the expert consultation were reliable.The constructed GMT program includes 1 first-level indicator,7 second-level indicators,and 20 third-level indicators.② After 7 weeks of GMT intervention,the interaction between the 2 groups and time showed that the experimental group obtained significant improvements than the control group in terms of inattention symptoms(Wald Chi-square=28.35,P<0.001),dysregulation of emotions(Wald Chi-square=23.81,P<0.001),anxiety(Wald Chi-square=22.79,P<0.001),depression(Wald Chi-square=20.52,P<0.001),self-compassion(Wald Chi-square=9.36,P<0.01),and life satisfaction(Wald Chi-square=3.97,P<0.05).Conclusion GMT intervention can significantly improve the core symptoms of college students with inattentive ADHD,reduce anxiety and depression levels,enhance their emotion regulation and self-compassion abilities,and improve their life satisfaction.
8.Protective effect of sub-hypothermic mechanical perfusion combined with membrane lung oxygenation on a yorkshire model of brain injury after traumatic blood loss.
Xiang-Yu SONG ; Yang-Hui DONG ; Zhi-Bo JIA ; Lei-Jia CHEN ; Meng-Yi CUI ; Yan-Jun GUAN ; Bo-Yao YANG ; Si-Ce WANG ; Sheng-Feng CHEN ; Peng-Kai LI ; Heng CHEN ; Hao-Chen ZUO ; Zhan-Cheng YANG ; Wen-Jing XU ; Ya-Qun ZHAO ; Jiang PENG
Chinese Journal of Traumatology 2025;28(6):469-476
PURPOSE:
To investigate the protective effect of sub-hypothermic mechanical perfusion combined with membrane lung oxygenation on ischemic hypoxic injury of yorkshire brain tissue caused by traumatic blood loss.
METHODS:
This article performed a random controlled trial. Brain tissue of 7 yorkshire was selected and divided into the sub-low temperature anterograde machine perfusion group (n = 4) and the blank control group (n = 3) using the random number table method. A yorkshire model of brain tissue injury induced by traumatic blood loss was established. Firstly, the perfusion temperature and blood oxygen saturation were monitored in real-time during the perfusion process. The number of red blood cells, hemoglobin content, NA+, K+, and Ca2+ ions concentrations and pH of the perfusate were detected. Following perfusion, we specifically examined the parietal lobe to assess its water content. The prefrontal cortex and hippocampus were then dissected for histological evaluation, allowing us to investigate potential regional differences in tissue injury. The blank control group was sampled directly before perfusion. All statistical analyses and graphs were performed using GraphPad Prism 8.0 Student t-test. All tests were two-sided, and p value of less than 0.05 was considered to indicate statistical significance.
RESULTS:
The contents of red blood cells and hemoglobin during perfusion were maintained at normal levels but more red blood cells were destroyed 3 h after the perfusion. The blood oxygen saturation of the perfusion group was maintained at 95% - 98%. NA+ and K+ concentrations were normal most of the time during perfusion but increased significantly at about 4 h. The Ca2+ concentration remained within the normal range at each period. Glucose levels were slightly higher than the baseline level. The pH of the perfusion solution was slightly lower at the beginning of perfusion, and then gradually increased to the normal level. The water content of brain tissue in the sub-low and docile perfusion group was 78.95% ± 0.39%, which was significantly higher than that in the control group (75.27% ± 0.55%, t = 10.49, p < 0.001), and the difference was statistically significant. Compared with the blank control group, the structure and morphology of pyramidal neurons in the prefrontal cortex and CA1 region of the hippocampal gyrus were similar, and their integrity was better. The structural integrity of granulosa neurons was destroyed and cell edema increased in the perfusion group compared with the blank control group. Immunofluorescence staining for glail fibrillary acidic protein and Iba1, markers of glial cells, revealed well-preserved cell structures in the perfusion group. While there were indications of abnormal cellular activity, the analysis showed no significant difference in axon thickness or integrity compared to the 1-h blank control group.
CONCLUSIONS
Mild hypothermic machine perfusion can improve ischemia and hypoxia injury of yorkshire brain tissue caused by traumatic blood loss and delay the necrosis and apoptosis of yorkshire brain tissue by continuous oxygen supply, maintaining ion homeostasis and reducing tissue metabolism level.
Animals
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Perfusion/methods*
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Disease Models, Animal
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Brain Injuries/etiology*
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Swine
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Male
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Hypothermia, Induced/methods*
9.Expert consensus on the diagnosis and treatment of cemental tear.
Ye LIANG ; Hongrui LIU ; Chengjia XIE ; Yang YU ; Jinlong SHAO ; Chunxu LV ; Wenyan KANG ; Fuhua YAN ; Yaping PAN ; Faming CHEN ; Yan XU ; Zuomin WANG ; Yao SUN ; Ang LI ; Lili CHEN ; Qingxian LUAN ; Chuanjiang ZHAO ; Zhengguo CAO ; Yi LIU ; Jiang SUN ; Zhongchen SONG ; Lei ZHAO ; Li LIN ; Peihui DING ; Weilian SUN ; Jun WANG ; Jiang LIN ; Guangxun ZHU ; Qi ZHANG ; Lijun LUO ; Jiayin DENG ; Yihuai PAN ; Jin ZHAO ; Aimei SONG ; Hongmei GUO ; Jin ZHANG ; Pingping CUI ; Song GE ; Rui ZHANG ; Xiuyun REN ; Shengbin HUANG ; Xi WEI ; Lihong QIU ; Jing DENG ; Keqing PAN ; Dandan MA ; Hongyu ZHAO ; Dong CHEN ; Liangjun ZHONG ; Gang DING ; Wu CHEN ; Quanchen XU ; Xiaoyu SUN ; Lingqian DU ; Ling LI ; Yijia WANG ; Xiaoyuan LI ; Qiang CHEN ; Hui WANG ; Zheng ZHANG ; Mengmeng LIU ; Chengfei ZHANG ; Xuedong ZHOU ; Shaohua GE
International Journal of Oral Science 2025;17(1):61-61
Cemental tear is a rare and indetectable condition unless obvious clinical signs present with the involvement of surrounding periodontal and periapical tissues. Due to its clinical manifestations similar to common dental issues, such as vertical root fracture, primary endodontic diseases, and periodontal diseases, as well as the low awareness of cemental tear for clinicians, misdiagnosis often occurs. The critical principle for cemental tear treatment is to remove torn fragments, and overlooking fragments leads to futile therapy, which could deteriorate the conditions of the affected teeth. Therefore, accurate diagnosis and subsequent appropriate interventions are vital for managing cemental tear. Novel diagnostic tools, including cone-beam computed tomography (CBCT), microscopes, and enamel matrix derivatives, have improved early detection and management, enhancing tooth retention. The implementation of standardized diagnostic criteria and treatment protocols, combined with improved clinical awareness among dental professionals, serves to mitigate risks of diagnostic errors and suboptimal therapeutic interventions. This expert consensus reviewed the epidemiology, pathogenesis, potential predisposing factors, clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of cemental tear, aiming to provide a clinical guideline and facilitate clinicians to have a better understanding of cemental tear.
Humans
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Dental Cementum/injuries*
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Consensus
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Diagnosis, Differential
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Cone-Beam Computed Tomography
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Tooth Fractures/therapy*
10.Clinical characteristics and treatment evaluation of anti-melanoma differentiation-associated protein-5 antibody-positive dermatomyositis patients with fatal outcomes: a retrospective analysis
Xiaoguang CUI ; Xin YANG ; Bincheng REN ; Xiaojing CHENG ; Shanshan LIU ; Xinrui ZHAO ; Tian TIAN ; Hui ZHAO ; Xueyi LI
Chinese Journal of Rheumatology 2025;29(3):204-208
Objective:This study aims to provide insights into the clinical features of anti-melanoma differentiation-associated protein-5(MDA5)-positive dermatomyositis (MDA5-DM) patients with fatal outcomes, leveraging pathogenic microbiota metagenomic analysis, to guide the clinical assessment and treatment choices.Methods:From January 2020 to August 2023, deceased patients diagnosed with MDA5-DM were identified at the Department of Rheumatology and Immunology, the Second Affiliated Hospital of Xi ′an Jiaotong University. Clinical data were retrospectively collected and analyzed using Mann Whitney U test and Fisher ′s exact test to summarize risk factors and treatment assessment for MDA5-DM patients with fatal outcomes. Results:①The proportion of male patients was higher than females among MDA5-DM patients with fatal outcomes, which differed from the incidence pattern, possibly associated with smoking and gender proportions (6/11 vs. 0/7, P=0.037). ②94%(17/18) patients presented initially with elevated ferritin levels [(1 350±942)ng/ml] and CRP [(47±36)mg/L]. ③All patients (18/18) exhibited early involvement of the upper lung lobes, including multiple nodules in 9/18, ground-glass opacities in 5/18, and solitary nodules in 4/18. ④Metagenomic next-generation sequencing (mNGS) of bronchoalveolar lavage fluid was negative in 4/16 cases, with cytomegalovirus and pneumocystis jirovecii being the most commonly detected pathogens in 5/16 cases each. ⑤89%(16/18) of patients continued to have lymphocyte counts persistently <0.5×10 9/L irrespective of treatment. Conclusion:Smoking may have adverse effects on male MDA5 patients. Early involvement of the upper lobe of the lungs is more common in MDA5 antibody positive deaths, and persistent lymphocyte depletion is an important factor in poor response. Enhancing mNGS analysis of bronchoalveolar lavage fluid and vigilance towards cytomegalovirusand Pneumocystis jirovecii could provide valuable clinical guidance.


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