1.Study on Reducing Hepatotoxicity and Retaining Anti-osteoporosis Activity of Psoraleae Fructus Though Salt Processing Based on Zebrafish
Yiqi LIU ; Xuan WANG ; Qiqi FAN ; Zehua CHANG ; Shuo FAN ; Na WANG ; Zheng LI ; Xinfang XU ; Chongjun ZHAO ; Xiangri LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(9):79-90
ObjectiveTo investigate the mechanism of salt processing of Psoraleae Fructus (PF) through modern analytical techniques and biotechnology, focusing on its effects related to hepatotoxicity and anti-osteoporosis activity. MethodsThe zebrafish model was utilized to evaluate the impact of PF and salt-processed Psoraleae Fructus (SPF) on the hepatotoxicity (using 134.17 , 178.89, 268.34 mg·L-1 as low, medium, and high dose groups of PF, 135.04, 180.06, 270.08 mg·L-1 as low, medium, and high dose groups of SPF, respectively) and anti-osteoporotic activity (using 33.54 , 67.08 and 134.17 mg·L-1 as low, medium, and high dose groups of PF, 33.76, 67.52, 135.04 mg·L-1 as low, medium, and high dose groups of SPF, respectively), which was using alizarin red skull staining of zebrafish as an indicator of different batches of PF. The specific dosage of a batch of PF was taken as an example. Then ultra-performance liquid chromatography-quadrupole-time of flight-mass spectrometry(UPLC-Q-TOF-MS) analysis was employed to identify the chemical composition of PF before and after salt processing, and PCA, OPLS-DA, and independent sample t-test were used to elucidating the compositional changes associated with the effects of salt processing on hepatotoxicity and anti-osteoporosis activity. ResultsUnder specific conditions, PF induced notable hepatotoxicity in zebrafish while simultaneously demonstrating protective effect against prednisolone-induced osteoporosis. In comparison to PF, SPF showed alleviated hepatotoxicity while retaining significant anti-osteoporosis activity. UPLC-Q-TOF-MS analysis revealed that after salt processing, the overall chemical composition of PF showed a downward trend, with 69 components showing a decrease in content, represented by psoralen, and 13 components showing an increase, represented by 4′-O-methyl psoralen B. Further multivariate statistical analysis revealed 11 key differential components before and after salt processing of PF, including psoralen and bakuchiol. ConclusionSalt processing effectively diminishes hepatotoxicity without impairing therapeutic efficacy against osteoporosis of PF, which may be related to the compositional changes before and after salt processing of PF and provides key evidence to reveal the scientific significance of salt processing of PF.
2.Effects of Yiqi Jiedu Tongluo Formula on renal injury in a rat model of type 2 diabetes mellitus via TGF-β/SMAD and VEGF pathways
Wen-xuan XU ; Lei-lei MA ; Ming-yu SHEN ; Xiao-jin LA ; Bi-wei ZHANG ; Shuo WANG ; Chao LI ; Peng CUI ; Zhen CHEN ; Ji-an LI
Chinese Traditional Patent Medicine 2025;47(2):421-429
AIM To observe the effects of Yiqi Jiedu Tongluo Formula(YQJDTL)on renal microvascular endothelial function and prevention of renal injury in a rat model of type 2 diabetes mellitus(T2DM).METHODS The SD rats were randomly divided into a normal group and a model group.The model group was administered with high-fat diet combined with a single intraperitoneal injection of STZ to establish the T2DM model.The successfully modeled rats were randomly divided into the model group,the canagliflozin group(9 mg/kg),and the low-dose and high-dose YQJDTL groups(4.77,9.45 g/kg).The corresponding doses of the drug were administered by gavage for a total of 12 weeks,during which the rats underwent observation of their general condition and blood glucose changes.After the end of administration,the rats had their levels of renal index,24-hour UP,serum SCr,BUN,TC,TG,HDL-C,LDL-C,ET-1 and NOS measured;their changes in renal microvasculature and the degree of renal fibrosis observed using HE staining,Masson staining,PAS staining,and PASM staining;their ultrastructure of the glomeruli observed using transmission electron microscopy;their renal protein expressions of TGF-β,SMAD2,SMAD3,Col-1,VEGFA and PKC detected by immunohistochemical staining and Western blot;and their renal mRNA expressions of VEGFA,TGF-β,SMAD2 determined by RT-qPCR.RESULTS Compared with the model group,the high-dose YQJDTL group showed decreased levels of renal index,blood glucose,TG,TC,HDL,24 h UP,BUN,SCr and ET-1(P<0.05,P<0.01);increased LDL and NOS levels(P<0.05,P<0.01);reduced renal inflammatory infiltration and fibrosis degree,inhibited fusion of foot processes and thickening of basement membrane;decreased renal protein expressions of TGF-β,SMAD2,SMAD3,VEGFA,PKC and Col-1(P<0.05,P<0.01);and decreased mRNA expressions of VEGFA,TGF-β and SMAD2(P<0.01).CONCLUSION In the rat models of T2DM,YQJDTL can reduce their levels of blood glucose and lipids by improving the renal indices levels and the renal microvascular endothelial functions to alleviate renal fibrosis and microangiopathy as well,and the mechanism may be associated with the down-regulated expressions of TGF-β/SMAD and VEGF pathway-related proteins.
3.Porphyromonas gingivalis Promotes the Development of Esophageal Squamous Cell Carcinoma by Upregulating HuR to Suppress hsa_circ_0057552
Rui YANG ; Bian-Li GU ; Lin-Lin SHI ; Shuo-Xuan LI ; Yao-Wu LANG ; Zhi-Xiang ZUO ; She-Gan GAO
Chinese Journal of Biochemistry and Molecular Biology 2025;41(11):1678-1686
Recent studies have revealed a significant association between Porphyromonas gingivalis(P.gingivalis)infection and poor prognosis in esophageal squamous cell carcinoma(ESCC).Although cer-tain circular RNAs(circRNA)have been shown to suppress ESCC tumorigenesis and progression,their regulatory mechanisms in P.gingivalis infection-associated ESCC remain elusive.In this study,RT-qPCR analysis demonstrated that P.gingivalis infection downregulated hsa_circ_0057552 expression in ESCC cells and tissues in a time-and dose-dependent manner.Actinomycin D assays further confirmed that P.gingivalis infection reduced the RNA stability of hsa_circ_0057552 in ESCC cells(P<0.05).Functional assays in vitro and a subcutaneous tumor xenograft model in vivo revealed that hsa_circ_0057552 overexpression significantly inhibited ESCC cell proliferation,migration,invasion,and tumor growth(P<0.05).Additionally,PCR array screening combined with RT-qPCR and Western blotting in-dicated that P.gingivalis infection markedly upregulated human antigen R(HuR)expression at both RNA and protein levels(P<0.05).Mechanistic investigations demonstrated that HuR knockdown signifi-cantly increased hsa_circ_0057552 expression(P<0.01),whereas hsa_circ_0057552 overexpression had no regulatory effect on HuR.Finally,si-HuR treatment reversed the inhibitory effect of P.gingivalis on hsa_circ_0057552 transcription.This study demonstrated that P.gingivalis may promote the progression of ESCC through a novel mechanism involving the regulation of HuR/hsa_circ_0057552,thereby identif-ying a novel therapeutic target and molecular marker for P.gingivalis-associated ESCC.
4.Porphyromonas gingivalis Promotes the Development of Esophageal Squamous Cell Carcinoma by Upregulating HuR to Suppress hsa_circ_0057552
Rui YANG ; Bian-Li GU ; Lin-Lin SHI ; Shuo-Xuan LI ; Yao-Wu LANG ; Zhi-Xiang ZUO ; She-Gan GAO
Chinese Journal of Biochemistry and Molecular Biology 2025;41(11):1678-1686
Recent studies have revealed a significant association between Porphyromonas gingivalis(P.gingivalis)infection and poor prognosis in esophageal squamous cell carcinoma(ESCC).Although cer-tain circular RNAs(circRNA)have been shown to suppress ESCC tumorigenesis and progression,their regulatory mechanisms in P.gingivalis infection-associated ESCC remain elusive.In this study,RT-qPCR analysis demonstrated that P.gingivalis infection downregulated hsa_circ_0057552 expression in ESCC cells and tissues in a time-and dose-dependent manner.Actinomycin D assays further confirmed that P.gingivalis infection reduced the RNA stability of hsa_circ_0057552 in ESCC cells(P<0.05).Functional assays in vitro and a subcutaneous tumor xenograft model in vivo revealed that hsa_circ_0057552 overexpression significantly inhibited ESCC cell proliferation,migration,invasion,and tumor growth(P<0.05).Additionally,PCR array screening combined with RT-qPCR and Western blotting in-dicated that P.gingivalis infection markedly upregulated human antigen R(HuR)expression at both RNA and protein levels(P<0.05).Mechanistic investigations demonstrated that HuR knockdown signifi-cantly increased hsa_circ_0057552 expression(P<0.01),whereas hsa_circ_0057552 overexpression had no regulatory effect on HuR.Finally,si-HuR treatment reversed the inhibitory effect of P.gingivalis on hsa_circ_0057552 transcription.This study demonstrated that P.gingivalis may promote the progression of ESCC through a novel mechanism involving the regulation of HuR/hsa_circ_0057552,thereby identif-ying a novel therapeutic target and molecular marker for P.gingivalis-associated ESCC.
5.Effects of Yiqi Jiedu Tongluo Formula on renal injury in a rat model of type 2 diabetes mellitus via TGF-β/SMAD and VEGF pathways
Wen-xuan XU ; Lei-lei MA ; Ming-yu SHEN ; Xiao-jin LA ; Bi-wei ZHANG ; Shuo WANG ; Chao LI ; Peng CUI ; Zhen CHEN ; Ji-an LI
Chinese Traditional Patent Medicine 2025;47(2):421-429
AIM To observe the effects of Yiqi Jiedu Tongluo Formula(YQJDTL)on renal microvascular endothelial function and prevention of renal injury in a rat model of type 2 diabetes mellitus(T2DM).METHODS The SD rats were randomly divided into a normal group and a model group.The model group was administered with high-fat diet combined with a single intraperitoneal injection of STZ to establish the T2DM model.The successfully modeled rats were randomly divided into the model group,the canagliflozin group(9 mg/kg),and the low-dose and high-dose YQJDTL groups(4.77,9.45 g/kg).The corresponding doses of the drug were administered by gavage for a total of 12 weeks,during which the rats underwent observation of their general condition and blood glucose changes.After the end of administration,the rats had their levels of renal index,24-hour UP,serum SCr,BUN,TC,TG,HDL-C,LDL-C,ET-1 and NOS measured;their changes in renal microvasculature and the degree of renal fibrosis observed using HE staining,Masson staining,PAS staining,and PASM staining;their ultrastructure of the glomeruli observed using transmission electron microscopy;their renal protein expressions of TGF-β,SMAD2,SMAD3,Col-1,VEGFA and PKC detected by immunohistochemical staining and Western blot;and their renal mRNA expressions of VEGFA,TGF-β,SMAD2 determined by RT-qPCR.RESULTS Compared with the model group,the high-dose YQJDTL group showed decreased levels of renal index,blood glucose,TG,TC,HDL,24 h UP,BUN,SCr and ET-1(P<0.05,P<0.01);increased LDL and NOS levels(P<0.05,P<0.01);reduced renal inflammatory infiltration and fibrosis degree,inhibited fusion of foot processes and thickening of basement membrane;decreased renal protein expressions of TGF-β,SMAD2,SMAD3,VEGFA,PKC and Col-1(P<0.05,P<0.01);and decreased mRNA expressions of VEGFA,TGF-β and SMAD2(P<0.01).CONCLUSION In the rat models of T2DM,YQJDTL can reduce their levels of blood glucose and lipids by improving the renal indices levels and the renal microvascular endothelial functions to alleviate renal fibrosis and microangiopathy as well,and the mechanism may be associated with the down-regulated expressions of TGF-β/SMAD and VEGF pathway-related proteins.
6.Exercise alleviating fear and anxiety in mice with post-traumatic stress disorder by promoting hippocampal neuroregeneration and dendritic development
Chang SU ; Zi-Xuan XU ; Shuo JIN ; Xiao-Xiao ZHANG ; Chao XI ; Li-Na SUN
Acta Anatomica Sinica 2025;56(4):389-397
Objective To investigate the mechanism of hippocampal neuronal plasticity of newborn neurons in the hippocampus by which exercise improves the fear and anxiety symptoms of post-traumatic stress disorder(PTSD).Methods Totally 40 C57BL/6J male mice were randomly divided into by control group(Ctrl)and PTSD group,the PTSD group was divided into a no-exercise group(PTSD),a low-intensity exercise group(L)and a high-intensity exercise group(H).The PTSD model mice were constructed by combining conditioned plantar-foot shock(CF)and single-session sustained stress(SPS).After the exercise intervention,the fear and anxiety levels of the mice were assessed using the conditioned fear test and the elevated cross maze test;Subsequently,the densities of the newborn mature neurons in dentate gyrus(DG)of hippocampus were detected by immunofluorescent double-labelling staining,and the newborn neuron morphology was marked by injecting retrovirus pRetro-U6-EF1-EGFP-3xFLAG-WPRE in DG of hippocampus to observe its morphology.The morphology of the newborn neurons was labelled to observe their dendritic length and the number of branch points;Meanwhile,the concentration level of adiponctin(APN)in the hippocampal area was determined by ELISA.Results The result showed that both high and low-intensity exercise interventions significantly reduced the freezing time of PTSD mice in the conditioned fear test,and in the elevated cross maze experiment,the residence time and the number of entries in the open arm of the mice in the H group increased significantly compared with those in the PTSD group,while the residence time and the number of entries in the closed arm were significantly reduced.In addition,both high and low-intensity exercise interventions significantly increased the surface density and dendritic length of newborn mature neurons in the hippocampal DG region of PTSD mice,and high-intensity exercise significantly increased the number of dendritic branching points,and the density of newborn mature neurons in the H group was more significantly increased compared with that in the L group.At the same time,the hippocampal APN concentration increased significantly in both L and H groups compared with the PTSD group,and it was more significant in the H group.Conclusion Exercises have an ameliorative effect on anxiety and fear symptoms in PTSD mice,and at the same time,it can increase hippocampal neuroplasticity and adiponctin secretion in PTSD mice,suggesting that the improvement of fear and anxiety symptoms in PTSD by exercise may be related to the increase of hippocampal neuroplasticity and APN secretion,and the improvement effect is better with high-intensity exercise.
7.A Retrospective Study of Pregnancy and Fetal Outcomes in Mothers with Hepatitis C Viremia.
Wen DENG ; Zi Yu ZHANG ; Xin Xin LI ; Ya Qin ZHANG ; Wei Hua CAO ; Shi Yu WANG ; Xin WEI ; Zi Xuan GAO ; Shuo Jie WANG ; Lin Mei YAO ; Lu ZHANG ; Hong Xiao HAO ; Xiao Xue CHEN ; Yuan Jiao GAO ; Wei YI ; Yao XIE ; Ming Hui LI
Biomedical and Environmental Sciences 2025;38(7):829-839
OBJECTIVE:
To investigate chronic hepatitis C virus (HCV) infection's effect on gestational liver function, pregnancy and delivery complications, and neonatal development.
METHODS:
A total of 157 HCV antibody-positive (anti-HCV[+]) and HCV RNA(+) patients (Group C) and 121 anti-HCV(+) and HCV RNA(-) patients (Group B) were included as study participants, while 142 anti-HCV(-) and HCV RNA(-) patients (Group A) were the control group. Data on biochemical indices during pregnancy, pregnancy complications, delivery-related information, and neonatal complications were also collected.
RESULTS:
Elevated alanine aminotransferase (ALT) rates in Group C during early, middle, and late pregnancy were 59.87%, 43.95%, and 42.04%, respectively-significantly higher than Groups B (26.45%, 15.70%, 10.74%) and A (23.94%, 19.01%, 6.34%) ( P < 0.05). Median ALT levels in Group C were significantly higher than in Groups A and B at all pregnancy stages ( P < 0.05). No significant differences were found in neonatal malformation rates across groups ( P > 0.05). However, neonatal jaundice incidence was significantly greater in Group C (75.16%) compared to Groups A (42.25%) and B (57.02%) ( χ 2 = 33.552, P < 0.001). HCV RNA positivity during pregnancy was an independent risk factor for neonatal jaundice ( OR = 2.111, 95% CI 1.242-3.588, P = 0.006).
CONCLUSIONS
Chronic HCV infection can affect the liver function of pregnant women, but does not increase the pregnancy or delivery complication risks. HCV RNA(+) is an independent risk factor for neonatal jaundice.
Humans
;
Female
;
Pregnancy
;
Adult
;
Pregnancy Complications, Infectious/epidemiology*
;
Retrospective Studies
;
Pregnancy Outcome
;
Infant, Newborn
;
Viremia/virology*
;
Hepatitis C
;
Hepacivirus/physiology*
;
Hepatitis C, Chronic/virology*
;
Young Adult
;
Alanine Transaminase/blood*
8.Implementation of surveillance,prevention and control of healthcare-asso-ciated infection in maternal and child healthcare institutions:A nation-wide investigation report
Shuo LI ; Xi YAO ; Hui-Xue JIA ; Wei-Guang LI ; Xun HUANG ; Shu-Mei SUN ; Xi CHENG ; Qing-Lan MENG ; Xiang ZHANG ; Jing-Ping ZHANG ; Ya-Wei XING ; Qing-Qing JIANG ; Lian-Xuan WU ; Bing-Li ZHANG ; Xiao-Jing LIU ; Liu-Yi LI
Chinese Journal of Infection Control 2024;23(3):323-329
Objective To investigate the implementation of surveillance,prevention and control measures for healthcare-associated infection(HAI)in maternal and child healthcare(MCH)institutions,and provide policy evi-dence for optimizing HAI prevention and control in MCH institutions.Methods Stratified sampling was conducted among the MCH institutions at provincial,municipal and county levels in 8 provinces/autonomous regions.A uni-fied questionnaire was designed and the online survey was conducted through"Questionnaire Star".Results The data from 123 MCH institutions were included in the analysis.90.24%of the MCH institutions carried out compre-hensive surveillance on HAI.The ratios of MCH institutions which implemented targeted surveillance on HAI in neonatal intensive care unit(NICU),surgical site infection,multidrug-resistant organisms(MDROs)and HAI in intensive care units(non-NICU excluded)were 89.66%,85.96%,80.77%,and 74.19%,respectively.51.22%MCH institutions adopted information surveillance system on HAI cases.94.31%MCH institutions carried out surveillance on hand hygiene compliance.Over 90%MCH institutions carried out surveillance on environment hy-giene in high-risk departments.71.54%MCH institutions conducted centralized cleaning,disinfection,sterilization and supply for reusable medical instruments in the central sterile supply department(CSSD).Over 90%MCH insti-tutions established three-level pre-examination triage systems.86.18%set up transitional wards.MCH institutions generally adopted a management model with established effective communication,full appointment visits,and sepa-rate visits for special medical groups,such as registered pregnant women,high-risk newborns,healthcare groups,and long-term rehabilitation patients.However,the ratio of institutions conducting on-line follow-up visits was less than 50%.Conclusion MCH institutions have generally carried out comprehensive and targeted surveillance on HAI.Information surveillance need to be facilitated.Hand hygiene and environmental hygiene surveillance has been popularized to a certain extent at all levels of MCH institutions.The cleaning,disinfection,sterilization,and supply processes of reusable medical devices in a few MCH institutions are not standardized.Special medical populations get effective management.On-line healthcare is to be further promoted.
9.Application of iliac vein molding and stent implantation through the ipsilateral great saphenous vein approach in daytime treatment mode
Qichen FENG ; Shuo GAI ; Changming WANG ; Xuan LI
Journal of Peking University(Health Sciences) 2024;56(2):322-325
Objective:To explore the feasibility and recent efficacy of iliac vein molding and stenting in daytime treatment mode in patients with iliac vein stenosis.Methods:Medical records of iliac vein molding and stenting performed in the ipsilateral great saphenous vein approach conducted from February 2017 to March 2022 were retrospective reviewed.There were 21 cases,6 males and 15 females.Age ranged from 37 to 79 years[(62.5±10.2)years].The stenosis in the 21 limbs simply involved the common iliac veins in 16 patients,2 patients had the simple and external iliac veins,and both the total and external iliac veins in 3 patients.Both iliac vein molding and iliac vein stenting were performed through the ipsilateral great saphenous vein approach.The patients with simple iliac vein stenosis with great saphenous vein valve insufficiency also underwent radiofrequency closure of great saphenous vein and flexural vein sclerosis therapy simultaneously.Regular postoperative direct oral anticoagulants therapy and stress therapy were followed.All the patients were hospitalized for less than 24 h.Results:All the 21 patients operations were successful(the success rate was 100%),without any intraoperative compli-cations.Immediate postoperative complications were puncture point bleeding in 1 case.The bandage gauze was completely wet.The bleeding was stopped after 5min of recompression.All the patients were hospitalized for less than 24 h.Follow-up results:The 3-month follow-up rate after operation was 100%.Absolute effective 18 cases(18/21,85.7%).Relatively effective(postmentation still after surgery,but with less extent)in 3 cases(3/21,14.3%).The iliac vein stents were unobstructed,and the trunk of the great saphenous vein was well closed in the patients with great saphenous vein radiofrequency treat-ment.The 6-month follow-up rate after operation was 71.4%(15/21).Of these,14 cases(14/15,93.3%)were absolutely effective.Relatively effective(postmentation still after surgery,but with less ex-tent)in 1 case(1/15,6.7%).The iliac vein stents were no restenosis or obstruction,and the trunk of the great saphenous vein was well closed in the patients with great saphenous vein radiofrequency treat-ment.Conclusion:The interventional treatment technique of iliac vein stenosis is feasible in the daytime treatment mode,with clear advantages and satisfactory recent efficacy.
10.A case of combined oxidative phosphorylation deficiency 32 caused by MRPS34 gene variation and literature review.
Meng Xuan SHEN ; Xin Na JI ; Fan WU ; Yan Yan GAO ; Shuo FENG ; Li Na XIE ; Ping ZHENG ; Ying Ying MAO ; Qian CHEN
Chinese Journal of Pediatrics 2023;61(7):642-647
Objective: To investigate the clinical features and genetic features of combined oxidative phosphorylation deficiency 32 (COXPD32) caused by MRPS34 gene variation. Methods: The clinical data and genetic test of a child with COXPD32 hospitalized in the Department of Neurology, Children's Hospital, Capital Institute of Pediatrics in March 2021 were extracted and analyzed. A literature search was implemented using Wanfang, China biology medicine disc, China national knowledge infrastructure, ClinVar, human gene mutation database (HGMD) and Pubmed databases with the key words "MRPS34" "MRPS34 gene" and "combined oxidative phosphorylation deficiency 32" (up to February 2023). Clinical and genetic features of COXPD32 were summarized. Results: A boy aged 1 year and 9 months was admitted due to developmental delay. He showed mental and motor retardation, and was below the 3rd percentile for height, weight, and head circumference of children of the same age and gender. He had poor eye contact, esotropia, flat nasal bridge, limbs hypotonia, holding instability and tremors. In addition, Grade Ⅲ/6 systolic murmur were heard at left sternal border. Arterial blood gases suggested that severe metabolic acidosis with lactic acidosis. Brain magnetic resonance imaging (MRI) showed multiple symmetrical abnormal signals in the bilateral thalamus, midbrain, pons and medulla oblongata. Echocardiography showed atrial septal defect. Genetic testing identified the patient as a compound heterozygous variation of MRPS34 gene, c.580C>T (p.Gln194Ter) and c.94C>T (p.Gln32Ter), with c.580C>T being the first report and a diagnosis of COXPD32. His parents carried a heterozygous variant, respectively. The child improved after treatment with energy support, acidosis correction, and "cocktail" therapy (vitaminB1, vitaminB2, vitaminB6, vitaminC and coenzyme Q10). A total of 8 cases with COXPD32 were collected through 2 English literature reviews and this study. Among the 8 patients, 7 cases had onset during infancy and 1 was unknown, all had developmental delay or regression, 7 cases had feeding difficulty or dysphagia, followed by dystonia, lactic acidosis, ocular symptoms, microcephaly, constipation and dysmorphic facies(mild coarsening of facial features, small forehead, anterior hairline extending onto forehead,high and narrow palate, thick gums, short columella, and synophrys), 2 cases died of respiratory and circulatory failure, and 6 were still alive at the time of reporting, with an age range of 2 to 34 years. Blood and (or) cerebrospinal fluid lactate were elevated in all 8 patients. MRI in 7 cases manifested symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia. Urine organic acid test were all normal but 1 patient had alanine elevation. Five patients underwent respiratory chain enzyme activity testing, and all had varying degrees of enzyme activity reduction. Six variants were identified, 6 patients were homozygous variants, with c.322-10G>A was present in 4 patients from 2 families and 2 compound heterozygous variants. Conclusions: The clinical phenotype of COXPD32 is highly heterogenous and the severity of the disease varies from development delay, feeding difficulty, dystonia, high lactic acid, ocular symptoms and reduced mitochondrial respiratory chain enzyme activity in mild cases, which may survive into adulthood, to rapid death due to respiratory and circulatory failure in severe cases. COXPD32 needs to be considered in cases of unexplained acidosis, hyperlactatemia, feeding difficulties, development delay or regression, ocular symptoms, respiratory and circulatory failure, and symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia, and genetic testing can clarify the diagnosis.
Humans
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Male
;
Acidosis, Lactic
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Brain
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Brain Stem
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Dystonia
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Dystonic Disorders
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Mitochondrial Diseases
;
Infant

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