1.Impact factors and reference range upper limit of thyroid volume in children aged 8-10 years old in Huangpu District, Shanghai
Weihua CHEN ; Chengdi SHAN ; Lili SONG ; Lifang MA ; Yun CAO ; Youshun QIAN ; Aina HE ; Jun XIAO
Journal of Environmental and Occupational Medicine 2025;42(2):205-210
Background As one of the key populations in the prevention and treatment of iodine deficiency disorders, it is important to continuously monitor the iodine nutritional level of school-age children. The current reference interval for thyroid volume in China is based on age only, without taking into account differences in individual developmental levels, and the distribution of thyroid volume may vary regionally due to economic, demographic, and environmental factors. The current reference cut-off points for thyroid volume proposed by the World Health Organization are not based on the Chinese population. Objective To understand the iodine nutritional status and distribution of thyroid volume (Tvol) among children aged 8-10 years in Huangpu District, Shanghai, China, to identify impact factors of Tvol, and to propose a reference range upper limit for local thyroid health surveillance, so as to provide a basis for goiter control and prevention. Methods Six hundred children aged 8-10 years in Huangpu District were recruited in 2017, 2020, and 2023, and body height, weight, thyroid volume, urinary iodine, and iodine content of household edible salt were determined. A multilevel model was constructed using population density and area as regional variables, and age, body surface area (BSA), and body mass index (BMI) as potential impact factors for at the individual level, to assess their effects on thyroid volume. Quantile regression of thyroid volume was performed, and the 98th percentile (P98) of thyroid volume was predicted based on age and BSA. Results The iodized salt coverage in the households of surveyed children in 2017, 2020, and 2023 was 72.0%, 57.0%, and 48.0%, respectively, and the iodized salt coverage decreased by year (χ2=24.31, P<0.001). The urinary iodine level of children in 2017 was higher than that in 2020 and 2023 (χ2=18.77, P<0.001). The Tvol medians of children in 2017, 2020, and 2023 were 2.29, 2.49, and 2.97 mL, respectively, and the Tvol increased by year (χ2=60.04, P<0.001). The proportion of goiter was higher in children in 2023 than in 2017 and 2020 (χ2=6.57, P<0.05). Sex differences were not statistically significant for urinary iodine levels, thyroid volume, and goiter. The median Tvol was 2.26, 2.58, and 2.76 mL in children of 8, 9, and 10 years old respectively, and the Tvol increased with age (χ2=49.02, P <0.001). Tvol was positively correlated with age, BSA, and BMI with correlation coefficients of
2.Association of poor sleep characteristics with coexistence of negative emotions and overweight/obesity among college students
ZHANG Lisha*, LI Huihua, ZHANG Lifang, SONG Yongjing, SONG Jiancai, HUANG Bo
Chinese Journal of School Health 2025;46(8):1160-1165
Objective:
To analyze the association between poor sleep characteristics and the coexistence of negative emotions and overweight/obesity among college students, so as to provide a scientific basis for improving their physical and mental health.
Methods:
From November to December 2023, a convenience sampling method was used to survey 6 600 college students from nine universities in Jiangxi, Hunan, and Hubei provinces. The Depression Anxiety and Stress Scale-21 (DASS-21), Insomnia Severity Index (ISI), Pittsburgh Sleep Quality Index (PSQI), and physical examinations were employed to assess negative emotions, poor sleep characteristics, and overweight/obesity. Chi square test and Logistic regression were used to analyze the impact of poor sleep characteristics on the coexistence of negative emotions and overweight/obesity.
Results:
The coexistence rates of different categories of negative emotions (depression, anxiety, stress) and overweight/obesity were 6.1% ( n= 405), 8.0% ( n =529), and 3.3% ( n =217), respectively. Gender, grade level, major, maternal education level, annual family income, physical activity level, only child status, and carbonated beverage consumption were statistically associated with the coexistence rates of different categories of negative emotions and overweight/obesity ( χ 2=4.01-35.18, all P <0.05). Logistic regression analysis showed that after adjusting for gender, grade level, major, only child status, maternal education level, annual family income, physical activity level, and carbonated beverage consumption, poor sleep characteristics were significantly associated with an increased risk of the coexistence of negative emotions and overweight/obesity ( OR =1.41-6.65); moderate and poor sleep quality levels were significantly associated with an increased risk of the coexistence of different categories of negative emotions and overweight/obesity among female students ( OR =1.99-4.71) (all P <0.05).
Conclusions
Poor sleep characteristics are associated with the coexistence of negative emotions and overweight/obesity among college students. Greater attention should be paid to sleep issues in this population, and sleep education should be actively promoted to reduce the risk of comorbid negative emotions and overweight/obesity.
3.Mass spectral database-based methodologies for the annotation and discovery of natural products.
Fengyao YANG ; Zeyuan LIANG ; Haoran ZHAO ; Jiayi ZHENG ; Lifang LIU ; Huipeng SONG ; Guizhong XIN
Chinese Journal of Natural Medicines (English Ed.) 2025;23(4):410-420
Natural products (NPs) have long held a significant position in various fields such as medicine, food, agriculture, and materials. The chemical space covered by NPs is extensive but often underexplored. Therefore, high-throughput and efficient methodologies for the annotation and discovery of NPs are desired to address the complexity and diversity of NP-based systems. Mass spectrometry (MS) has emerged as a powerful platform for the annotation and discovery of NPs. MS databases provide vital support for the structural characterization of NPs by integrating extensive mass spectral data and sample information. Additionally, the released annotation methodologies, based on a variety of informatics tools, continuously improve the ability to annotate the structure and properties of compounds. This review examines the current mainstream databases and annotation methodologies, focusing on their advantages and limitations. Prospects for future technological advancements are then discussed in terms of novel applications and research objectives. Through a systematic overview, this review aims to provide valuable insights and a reference for MS-based NPs annotation, thereby promoting the discovery of novel natural entities.
Biological Products/chemistry*
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Mass Spectrometry/methods*
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Databases, Factual
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Drug Discovery/methods*
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Humans
4.Association between short-term exposure to atmospheric fine particulate matter and ozone and inflammatory indicators in peripheral blood of patients with pneumonia
Lulu SONG ; Qi YU ; Nannan LIU ; Yuhui GAO ; Zeyu NIU ; Yan ZHANG ; Huiqiu ZHENG ; Jiayu TIAN ; Junxia LIU ; Lifang ZHAO ; Zhihong ZHANG
Shanghai Journal of Preventive Medicine 2024;36(6):551-558
ObjectiveTo explore the association between short-term exposure to atmospheric fine particulate matter (PM2.5) and ozone (O3) and systemic inflammatory indicators in patients with pneumonia, and to identify the susceptible populations. MethodsFrom September 2018 to April 2020, data of 1 480 patients admitted for pneumonia was collected from a tertiary hospital in Taiyuan City. Generalized additive models (GAMs) were used to explore the associations between PM2.5 and O3 exposure and inflammatory indicators of patients with pneumonia; and to explore the susceptibility factors and susceptible populations to PM2.5 and O3 exposures through stratified analyses. ResultsThe short-term exposure to PM2.5 was associated with changes in peripheral blood C-reation protein (CRP), erythrocyte sedimentation (ESR), easinophil (EOS), neutrophil (NEU) and neutrophil-lymphocyte ratio (NLR) in patients with pneumonia, and there were different degrees of hysteresis effects, with the effect values reaching a maximum at lag03, lag03, lag0, lag03, lag03, respectively, which were 4.13% (95%CI: 0.43%‒7.84%), 3.10% (95%CI: 0.24%‒5.97%), 5.27% (95%CI: 3.12%‒7.42%), 1.85% (95%CI: 0.36%‒3.34%), and 2.53% (95%CI: 0.53%‒4.74%) for every 10 μg·m-3 of PM2.5. The changes in O3 concentration were associated with the elevation of peripheral blood PCT and ESR in patients with pneumonia, and their effect values all reached the maximum at lag01 d, every 1 μg·m-3 of O3 elevation increased by 0.38% (95%CI: 0.04%‒0.73%) and 0.47% (95%CI: 0.19%‒0.76%), respectively. Stratified analyses showed that the associations of PM2.5 with peripheral blood CRP, ESR, NEU, and NLR in pneumonia patients were more significant in males, the elderly, and those with onset in the cold season; the associations of O3 with peripheral blood PCT and ESR in pneumonia patients were more significant in the elderly and those with onset in the warm season, and the peripheral blood CRP and PCT in female patients with pneumonia were more susceptible to the changes of O3. ConclusionShort-term exposure to atmospheric PM2.5 and O3 are positively associated with changes in inflammatory indicators in patients with pneumonia, and the effects of PM2.5 on patients with pneumonia are more extensive than those of O3, with a longer lag effect. In addition, elderly patients with pneumonia are more sensitive to air pollution, male patients with pneumonia are more sensitive to PM2.5, and female patients with pneumonia are more sensitive to O3. Cold and warm seasons can exacerbate the effects of PM2.5 and O3 on inflammatory indicators in patients with pneumonia, respectively, and the patients must be protected well.
5.Progress of interruption of schistosomiasis transmission and prospects in Yunnan Province
Yun ZHANG ; Lifang WANG ; Xiguang FENG ; Mingshou WU ; Meifen SHEN ; Hua JIANG ; Jing SONG ; Jiayu SUN ; Chunqiong CHEN ; Jiaqi YAN ; Zongya ZHANG ; Jihua ZHOU ; Yi DONG ; Chunhong DU
Chinese Journal of Schistosomiasis Control 2024;36(4):422-427
Schistosomiasis was once hyper-endemic in Yunnan Province. Following concerted efforts for over 70 years, remarkable achievements have been made for schistosomiasis control in the province. In 2004, the Mid- and Long-term Plan for Schistosomiasis Prevention and Control in Yunnan Province was initiated in Yunnan Province, and the target for transmission control of schistosomiasis was achieved in the province in 2009. Following the subsequent implementation of the Outline for Key Projects in Integrated Schistosomiasis Control Program (2009—2015) and the 13th Five - year Plan for Schistosomiasis Control in Yunnan Province, no acute schistosomiasis had been identified in Yunnan Province for successive 12 years, and no local Schistosoma japonicum infections had been detected in humans, animals or Oncomelania hupensis snails for successive 6 years in the province by the end of 2020. The transmission of schistosomiasis was interrupted in Yunnan Province in 2020. This review summarizes the history of schistosomiasis, changes in schistosomiasis prevalence and progress of schistosomiasis control in Yunnan Province, and proposes the future priorities for schistosomiasis control in the province.
6.Prediction of potential geographic distribution of Oncomelania hupensis in Yunnan Province using random forest and maximum entropy models
Zongya ZHANG ; Chunhong DU ; Yun ZHANG ; Hongqiong WANG ; Jing SONG ; Jihua ZHOU ; Lifang WANG ; Jiayu SUN ; Meifen SHEN ; Chunqiong CHEN ; Hua JIANG ; Jiaqi YAN ; Xiguang FENG ; Wenya WANG ; Peijun QIAN ; Jingbo XUE ; Shizhu LI ; Yi DONG
Chinese Journal of Schistosomiasis Control 2024;36(6):562-571
Objective To predict the potential geographic distribution of Oncomelania hupensis in Yunnan Province using random forest (RF) and maximum entropy (MaxEnt) models, so as to provide insights into O. hupensis surveillance and control in Yunnan Province. Methods The O. hupensis snail survey data in Yunnan Province from 2015 to 2016 were collected and converted into O. hupensis snail distribution site data. Data of 22 environmental variables in Yunnan Province were collected, including twelve climate variables (annual potential evapotranspiration, annual mean ground surface temperature, annual precipitation, annual mean air pressure, annual mean relative humidity, annual sunshine duration, annual mean air temperature, annual mean wind speed, ≥ 0 ℃ annual accumulated temperature, ≥ 10 ℃ annual accumulated temperature, aridity and index of moisture), eight geographical variables (normalized difference vegetation index, landform type, land use type, altitude, soil type, soil textureclay content, soil texture-sand content and soil texture-silt content) and two population and economic variables (gross domestic product and population). Variables were screened with Pearson correlation test and variance inflation factor (VIF) test. The RF and MaxEnt models and the ensemble model were created using the biomod2 package of the software R 4.2.1, and the potential distribution of O. hupensis snails after 2016 was predicted in Yunnan Province. The predictive effects of models were evaluated through cross-validation and independent tests, and the area under the receiver operating characteristic curve (AUC), true skill statistics (TSS) and Kappa statistics were used for model evaluation. In addition, the importance of environmental variables was analyzed, the contribution of environmental variables output by the models with AUC values of > 0.950 and TSS values of > 0.850 were selected for normalization processing, and the importance percentage of environmental variables was obtained to analyze the importance of environmental variables. Results Data of 148 O. hupensis snail distribution sites and 15 environmental variables were included in training sets of RF and MaxEnt models, and both RF and MaxEnt models had high predictive performance, with both mean AUC values of > 0.900 and all mean TSS values and Kappa values of > 0.800, and significant differences in the AUC (t = 19.862, P < 0.05), TSS (t = 10.140, P < 0.05) and Kappa values (t = 10.237, P < 0.05) between two models. The AUC, TSS and Kappa values of the ensemble model were 0.996, 0.954 and 0.920, respectively. Independent data verification showed that the AUC, TSS and Kappa values of the RF model and the ensemble model were all 1, which still showed high performance in unknown data modeling, and the MaxEnt model showed poor performance, with TSS and Kappa values of 0 for 24%(24/100) of the modeling results. The modeling results of 79 RF models, 38 MaxEnt models and their ensemble models with AUC values of > 0.950 and TSS values of > 0.850 were included in the evaluation of importance of environmental variables. The importance of annual sunshine duration (SSD) was 32.989%, 37.847% and 46.315% in the RF model, the MaxEnt model and their ensemble model, while the importance of annual mean relative humidity (RHU) was 30.947%, 15.921% and 28.121%, respectively. Important environment variables were concentrated in modeling results of the RF model, dispersed in modeling results of the MaxEnt model, and most concentrated in modeling results of the ensemble model. The potential distribution of O. hupensis snails after 2016 was predicted to be relatively concentrated in Yunnan Province by the RF model and relatively large by the MaxEnt model, and the distribution of O. hupensis snails predicted by the ensemble model was mostly the joint distribution of O. hupensis snails predicted by RF and MaxEnt models. Conclusions Both RF and MaxEnt models are effective to predict the potential distribution of O. hupensis snails in Yunnan Province, which facilitates targeted O. hupensis snail control.
7.Gastrodin improves renal hypertension in rats possibly by inhibiting autophagy signals
Lifang SI ; Tianzhi ZHAO ; Yumin SONG ; Mengyun LI ; Xiang LI ; Feiyao WANG
Chinese Journal of Pharmacology and Toxicology 2024;38(5):369-374
OBJECTIVE To explore the mechanism by which gastrodin improves renal hyperten-sion in rats.METHODS A rat model of renal hypertension was established by ligating the renal artery.seventy-five rats were randomly divided into 5 groups(n=15):control group(sham operation group),model group,model+ramipril 1 mg·kg-1,model+gastrodin 100 and 200 mg·kg-1.The systolic blood pressure of the tail artery after modeling>18.12 kPa was regarded as the success of modeling.After the model was established,rats in the model+ramipril group were ig given ramipril 1 mg·kg-1 while the model+gastrodin group was ig given gastrodin 100 and 200 mg·kg-1 respectively for 4 weeks.Colori-metric assay kit was used to detect the serum superoxide dismutase(SOD)activity and malondialde-hyde(MDA)content in rats.ELISA was used to detect serum angiotensin-2(Ang-2)and aldosterone(ALD)contents,as well as serum and thoracic aortic tissue interleukin-1β(IL-1β),IL-6 and tumor necrosis factor α(TNF-α)content.HE staining was performed to detect pathological changes in thoracic aorta tissue of rats.The expressions of autophagy protein miceotubule associated protein light chain 3(LC3)-Ⅱand LC3-Ⅰwere detected by Western blotting.RESULTS The systolic pressure of the tail artery of rats after modeling exceeded 18.12 kPa,indicating that the modeling was successful.Compared with the control group,the contens of Ang-2(P<0.01)and ALD(P<0.01)in the model group were significantly increased,the activity of SOD(P<0.01)in serum and thoracic aorta tissue was significantly decreased,the content of MDA(P<0.01)was significantly increased,the contents of IL-1β,IL-6 and TNF-α in serum and thoracic aorta tissue were significantly decreased(P<0.01)and the ratio of LC-32/LC-31 in thoracic aorta tissue was significantly increased(P<0.01).Compared with the model group,gastrodin significantly increased the systolic pressure of the tail artery(P<0.01),the contents of Ang-2(P<0.01)and ALD(P<0.01)and the activity of SOD(P<0.01)in serum,as well as decreased the contents of MDA,IL-1β,IL-6 and TNF-α(P<0.01)in serum and thoracic aorta tissue.Meanwhile,gastrodin signifi-cantly decreased the ratio of LC3-Ⅱ/LC3-Ⅰ in rat thoracic aorta(P<0.01).CONCLUSION Gastrodin can improve the blood pressure of renal hypertensive rats,and the mechanism is possibly related to the reduction of autophagy protein LC3-Ⅱ/LC3-Ⅰratio.
8.Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene
Zhigang YANG ; Yuan WANG ; Guohong CHEN ; Lifang SONG ; Yanli MA ; Weihua ZHANG
Chinese Journal of Medical Genetics 2024;41(3):284-288
Objective:To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus (GEFS+ ).Methods:Three GEFS+ probands and their pedigree members presented at the Children′s Hospital of Zhengzhou University from January 2020 to December 2021 were selected as the study subjects. Clinical data of the pedigrees were collected. Whole exome sequencing was carried out for the probands, and Sanger sequencing was used to verify the candidate variants.Results:Proband 1 was a 3-year-and-2-month-old male with febrile seizure plus. His father, two aunts, grandmother, aunt grandmother, uncle grandfather, and paternal great-grandmother also had onset of febrile seizures at 1 ~ 2 years of age with remission before 6 years old. Proband 2 was a 1-year-and-4-month-old male with complex febrile seizure. His mother, maternal uncle, and maternal grandmother also had febrile seizures before 5 ~ 6 years of age. Proband 3 was a 3-year-and-11-month-old male with febrile seizure plus. His father and grandfather also had febrile seizures plus with remission at 7 ~ 8 years of age. Genetic testing revealed that proband 1 had harbored a paternally derived heterozygous SCN1A: c. 1613T>C variant, proband 2 had harbored a maternally derived heterozygous SCN1A: c. 2804A>G variant, and proband 3 had harbored a paternally derived heterozygous SCN1A: c. 1271T>C variant. All of the three variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (PM1+ PM2_Supporting+ PP1+ PP3+ PP4). Conclusion:The c. 1613T>C, c. 2804A>G and c. 1271T>C variants probably underlay the pathogenesis of GEFS+ in these pedigrees.
9.Clinical significance of hepatitis B virus DNA detection in screening patients with hepatitis B
Chengrong BIAN ; Juan LIU ; Ya GAO ; Jun XU ; Yingwei SONG ; Lijuan SONG ; Jing ZHAO ; Lan ZHANG ; Rumeng DONG ; Lifang XIA ; Jun ZHOU ; Bo′an LI
Chinese Journal of Laboratory Medicine 2023;46(1):19-26
Objective:To explore the clinical significance of hepatitis B virus (HBV) DNA detection in screening patients with hepatitis B.Methods:Clinical data of 682 331 hepatitis B patients were retrospectively analyzed. The HBV DNA of these patients was detected in the Fifth Medical Center of the PLA General Hospital from January 2017 to December 2021, there were 481 159 males and 201 172 females in this cohort, the average age was (41.34±16.13) years. Patients were divided into HBV DNA positive group (219 879 cases) and HBV DNA negative group (462 452 cases). Clinical characteristics, data of five serologic markers of hepatitis B and hepatitis B surface antigen quantification (HBsAg-QN), liver function, alpha fetoprotein (AFP) and prothrombin time (PT) results were collected and analyzed and compared between the two groups.Results:The positive rate of HBV DNA was 32.22% (219 879/682 331) in this cohort. Among the different age groups, the positive rate of HBV DNA was the highest (40.34%, 128 038/317 380) in young people aged 18-44 years. The proportion of patients was lower among aged <1, 45-59 and ≥60 years patients in HBV DNA positive group than that in HBV DNA negative group, while the proportion of patients was higher among aged 1-17 and 18-44 years patients in HBV DNA positive group than that in HBV DNA negative group (all P<0.001). Among 2 291 <1-year-old infants tested for HBV DNA, 71 infants were HBV DNA positive. The positive rates of HBV DNA from 2017 to 2021 were 4.86% (27/556), 3.68% (14/380), 3.47% (17/490), 1.55% (6/386) and 1.46% (7/479) respectively, showing a downward trend year by year. The positive rate of HBV DNA in acute hepatitis B (AHB) patients was the highest (49.88%, 208/417) among 680 040 patients with hepatitis B. The proportion of AHB patients (0.09%, 208/219 808) and chronic hepatitis B (80.44%, 176 806/219 808) in HBV DNA positive group was higher than that in HBV DNA negative group [0.05% (209/460 232) and 65.45% (301, 216/460 232)], while the proportion of patients with HBV-related liver cirrhosis (11.28%, 24 793/219 808), HBV-related liver cancer (6.72%, 14 775/219 808), liver cancer surgery (1.39%, 3 055/219 808) and liver transplantation (0.08%, 171/219 808) were lower than that in HBV DNA negative group [22.99% (105 813/460 232), 7.25% (33 385/460 232), 3.50% (16 129/460 232) and 0.76% (3 480/460 232)] (all P<0.001). At the same time, positive rate of hepatitis B surface antigen (HbsAg), HBsAg-QN, hepatitis B e antigen (HbeAg), level of total bilirubin, total bilirubin, AFP and PT were higher in HBV DNA positive group than those in HBV DNA negative group, while the age, male ratio and albumin results in HBV DNA positive group were lower than those in HBV DNA negative group (all P<0.01). The HBV DNA loads were higher in HBsAg positive group, hepatitis B surface antibody positive group and HBeAg positive group than those in respective negative groups, while the HBV DNA loads were lower in hepatitis B e antibody positive group and hepatitis B core antibody positive group than those in respective negative groups (all P<0.001). Conclusions:The mother to child transmission rate of<1-year-old infants decreases year by year. HBV DNA is an important factor for the progression of hepatitis B disease. HBV DNA positive hepatitis B patients with higher HBsAg-QN values are more likely to have abnormal serum markers such as liver dysfunction. HBV DNA detection is therefore of clinical importance in screening patients with hepatitis B.
10.Combined oxidative phosphorylation deficiency type 4: clinical features and TUFM gene mutation analysis
Zhihui TANG ; Yuan WANG ; Daoqi MEI ; Guohong CHEN ; Xiaoyi CHEN ; Lifang SONG ; Zhigang YANG ; Xiaoman ZHANG ; Shijie DONG
Chinese Journal of Neurology 2023;56(9):1027-1033
Objective:To investigate the clinical characteristics of patients with combined oxidative phosphorylation deficiency type 4 (COXPD4) related to TUFM gene variation, in order to improve clinicians′ understanding of the disease. Methods:A case of COXPD4 with cystic leukodystrophy admitted to the Children′s Hospital of Zhengzhou University in June 2021 was taken as the study subject, and her clinical characteristics and genetic testing results were retrospectively analyzed. The "combined oxidative phosphorylation deficiency type 4" " TUFM gene" "cystic leukodystrophy" "combined oxidative phosphorylation deficiency 4" "COXPD 4" " TUFM" and "cystic leukodystrophy" were used as keywords, and the documents on COXPD4 related to TUFM gene mutations were reviewed from Wanfang Data Knowledge Service Platform, CNKI, PubMed Document Database, and National Center for Biotechnology Information (NCBI) until August 2021. The COXPD4 patients that have been reported internationally were analyzed for clinical features and variant types. Results:The patient was a 2-month-old girl with clinical manifestations of delayed development and progressive aggravation, elevated lactic acid in serum and cerebrospinal fluid, and diffuse white matter dysplasia with multiple cystic lesions in cerebral magnetic resonance imaging (MRI). Whole exome sequencing showed TUFM gene complex heterozygous variants c.684_684+4delGGTGA and c.1105C>T, which had not been reported in the past. A total of 5 cases of COXPD4 were reported in 4 English literatures. Together with 1 case in this study, there were 4 cases with detailed clinical history data, including 1 male and 3 females. The clinical manifestations were severe early-onset lactic acidosis and developmental lag, and 3 cases were accompanied by progressive infantile encephalopathy. Among them, 3 cases underwent head MRI examination, all of which showed diffuse white matter signal with multiple cystic lesions, 2 cases with basal ganglia involvement and multiple cerebellar gyri deformity. Genetic test indicated different types of TUFM gene variation. Conclusions:COXPD4 is a rare hereditary mitochondrial disease. For cases with COXPD4 clinical and imaging features, TUFM gene mutations can be screened first.


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