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To summarize the nursing care of a very low birth weight premature infant with severe type Ⅱbronchopulmonary dysplasia(BPD)during the transition period from hospitalization to home.The care of the infant was provided one-on-one by a BPD specialist nurse throughout the period.The key points of transitional care from hospitalization to home include:implementing tracheotomy and mechanical ventilation care to ensure stable blood oxygen saturation of the infant;providing nutritional support to improve the nutritional status of the infant;implementing step-by-step rehabilitation measures to improve the neuromotor development of the infant;implementing family integrated care to promote the primary caregivers of the infant to master nursing knowledge and skills;conducting personalized discharge follow-up with a multidisciplinary team to improve the quality of home care for this infant.After being hospitalized for 106 days,the infant was successfully discharged with a tracheotomy tube.At the age of 2 years and 6 months,a tracheotomy closure surgery was performed.After the surgery,the infant was able to breathe autonomously without symptoms of breathing difficulties and returned to normal family life.
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ObjectiveTo analyze the interannual fluctuation, seasonal fluctuation, habitat distribution and the correlation of the 3 monitoring indicators of Aedes albopictus in Yangpu District of Shanghai from 2017 to 2021, and to provide a scientific basis for A. albopictus control and rational use of the indicators. MethodsThe density surveillance data of A. albopictus recorded by Breteau index (BI), Path index (PI) and the mosquito ovitrap index (MOI) from 2017 to 2021 in Yangpu District, Shanghai were compared. Microsoft Excel 2019 software was used for data summary and SPSS 25.0 software was used for statistical analysis. ResultsFrom 2017 to 2021, there were two months with BI>5, and the PI were all above the density control level of Class C, and there were nine months with MOI≥5. In 2017, BI was higher than in the other four years, with statistically significant differences (all P≤0.001). MOI in 2017 and 2020 was higher than in 2019 (P=0.029, P=0.004) and 2021 (P=0.005, P=0.001), with statistical significance. MOI for different types of habitats varied significantly, with a statistically significant difference (P=0.004). A linear correlation was observed between BI and PI (r=0.462, P=0.010). ConclusionBI, PI and MOI are used simultaneously to reflect the density of A. albopictus in Yangpu District of Shanghai. However, these three monitoring indicators show poor linear correlation. Comprehensively considering the scientific aspects of monitoring methods and seasonal fluctuations of indicators, it is suggested that MOI should be used as the main index to evaluate the density of A. albopictus. In the MOI, attention should be paid to factors such as the distribution of the habitats, the standardization of operating methods, and quality control, which are essential for enhancing the reliability of the MOI.
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Gaining a better understanding of autoprotection against drug-induced liver injury(DILI)may provide new strategies for its prevention and therapy.However,little is known about the underlying mechanisms of this phenomenon.We used single-cell RNA sequencing to characterize the dynamics and functions of hepatic non-parenchymal cells(NPCs)in autoprotection against DILI,using acetaminophen(APAP)as a model drug.Autoprotection was modeled through pretreatment with a mildly hepatotoxic dose of APAP in mice,followed by a higher dose in a secondary challenge.NPC subsets and dynamic changes were identified in the APAP(hepatotoxicity-sensitive)and APAP-resistant(hepatotoxicity-resistant)groups.A chemokine(C-C motif)ligand 2+endothelial cell subset almost disappeared in the APAP-resistant group,and an R-spondin 3+endothelial cell subset promoted hepatocyte proliferation and played an important role in APAP autoprotection.Moreover,the dendritic cell subset DC-3 may protect the liver from APAP hepatotoxicity by inducing low reactivity and suppressing the autoimmune response and occurrence of inflammation.DC-3 cells also promoted angiogenesis through crosstalk with endothelial cells via vascular endothelial growth factor-associated ligand-receptor pairs and facilitated liver tissue repair in the APAP-resistant group.In addition,the natural killer cell subsets NK-3 and NK-4 and the Sca-1-CD62L+natural killer T cell subset may promote autoprotection through interferon-y-dependent pathways.Furthermore,macrophage and neutrophil subpopulations with anti-inflammatory phenotypes promoted tolerance to APAP hepatotoxicity.Overall,this study reveals the dynamics of NPCs in the resistance to APAP hepatotoxicity and provides novel insights into the mechanism of autoprotection against DILI at a high resolution.
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Objective To establish the norm of Sub-Health Measurement Scale for nurses in Shandong Province,so as to provide a basis for understanding the current situation of sub-health and provide a reference for promoting the health of nurses.Methods From December 2020 to February 2023,14,308 nurses from 23 public tertiary hospitals enrolled in the Nurse Health Cohort Study in Shandong Province were selected as participants by convenience sampling.The sub-health status was assessed by the Sub-Health Measurement Scale,and the sub-health norm of nurses was constructed by establishing the mean,percentile and demarcation norm.Results A total of 10669 nurses were included in the analysis.The total score of Sub-Health Measurement Scale of nurses in Shandong Province was(61.13±12.40),and the scores of physiological sub-health sub-scale,psychological sub-health sub-scale and social sub-health sub-scale were(58.35±11.86),(62.56±15.85)and(63.56±16.73),respectively.The mean norm of sub-health assessment scale was established by gender and age.Based on the results of univariate analysis,we selected the characteristics with differences,namely gender,age,marital status,working department,years of working,professional title and employment type to establish a classification norm.P5,P25,P50,P75 and P95 were select to establish percentile norm.Taking(x-s),(x-0.5s),(x+0.5s),(x+s)as the cut-off points,the demarcation norm of the Sub-Health Measurement Scale and sub-scales was established,which was divided into 5 categories,including disease,severe sub-health,moderate sub-health,mild sub-health and healthy states.Conclusion This study established the Sub-Health Measurement Scale norm of nurses,which provided a basis for effectively evaluating and identifying the sub-health status of nurses.
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Objective:To observe the clinical characteristics and treatment prognosis of patients with ocular toxocariasis (OT).Methods:A retrospective clinical trial. From March 2018 to September 2021, 40 eyes of 40 OT patients diagnosed by ophthalmic examination in the First Affiliated Hospital of Zhengzhou University were included in the study. All patients underwent best corrected visual acuity (BCVA) and scanning laser ophthalmoscope (SLO) examination. Color Doppler ultrasound flow imaging (CDFI), fluorescein fundus angiography (FFA) and optical coherence tomography (OCT) were performed in 25, 26 and 26 eyes, respectively. Among the 40 patients, there were 23 males (57.5%, 23/40) and 17 females (42.5%, 17/40). All patients were monocular. Thirty patients (75.0%, 30/40) were younger than 18 years old, with the mean age of (9.60±0.60) years. Ten patients (25.0%, 10/40) were great than or equal to 18 years old, with the mean age of (34.60±4.52) years. Thirty-three patients (82.5%, 33/40) lived in rural areas for a long time. There were 27 patients (67.5%, 27/40) with a history of contact with dogs and cats. In 40 eyes, peripheral granuloma (peripheral type), posterior pole granuloma (posterior pole type), vitreous opacity similar to endophthalmitis (turbid type) and hybrid type were 18(45.0%, 18/40), 11(27.5%, 11/40), 6(15.0%, 6/40) ang 5(12.5%,5/40), respectively. All patients were treated with drugs and/or surgery after definite diagnosis. There were 28 eyes of peripheral type, posterior pole type and hybrid type, 17 eyes were treated with surgery and 11 eyes with drug treatment, respectively. Five eyes with turbid type were only treated with drugs. In 40 patients, 33 patients participated in follow-up. The follow-up time after treatment was (18.78±9.44) months. The improvement of BCVA was observed. The number of eyes with different BCVA before and after treatment was compared by χ2 test or Fisher's test. Results:At the first visit, the BCVA ranged from light perception to 0.6, including 20 eyes with BCVA <0.1, 13 eyes with BCVA 0.1-0.3, and 7 eyes with BCVA >0.3. The posterior vitreous anterior limiting membrane was thickened in 24 eyes (60.0%, 24/40). There were 27 eyes (67.5%, 27/40) with lamellar vitreous opacity and 22 eyes (55.0%, 22/40) with peripheral/posterior pole granulomas. Among 25 eyes examined by CDFI, 14 eyes (56.0%, 14/25) showed characteristic stratified or diffuse opacity in vitreous body. Of the 26 eyes examined by FFA, 15 eyes (57.7%, 15/26) had "fern-like" leakage of retinal capillaries, and the lesion had a patchy non-perfused area. In 26 eyes examined by OCT, epiretinal membrane, cystoid macular edema and vitreoretinal traction were 8 (30.8%, 8/26), 5 (19.2%, 5/26) and 2 (7.7%, 2/26) eyes, respectively. At the last follow-up, compared with before treatment, the BCVA of 5 eyes with turbid type increased, and the difference was statistically significant ( P<0.05). In 28 eyes with peripheral type, posterior pole type and hybrid type, 17 eyes with surgical treatment improved BCVA, and the difference was statistically significant ( χ2=6.258, P<0.05). In 11 eyes only treated with drugs, BCVA remained unchanged, and the difference was not statistically significant ( χ2=0.594, P>0.05). Conclusions:OT patients are mostly children; retinal granulomas, gray-white hyperplastic membrane behind lens or vitreous stratified opacity are specific characteristics. OT is mainly treated by glucocorticoid drugs and vitrectomy.
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Objective To investigate the clinical effect of pars plana vitrectomy combined with segmental scleral buckling(PPV-SSB)in the treatment of inferior rhegmatogenous retinal detachment(RRD).Methods Totally 87 eyes of 87 patients with inferior RRD who attended the Ophthalmology Department Ⅱ,the First Affiliated Hospital of Zhengzhou University from October 2020 to April 2022 were retrospectively included.Among them,45 patients(45 eyes)were treated with PPV-SSB(PPV-SSB group),and 42 patients(42 eyes)were treated with PPV(PPV group).The retinal reattachment rate,best corrected visual acuity(BCVA)and complications of patients who underwent single surgery in the two groups were compared.Results After a single surgery,the retinal reattachment rate was 95.56%(43/45)in the PPV-SSB group and 80.95%(34/42)in the PPV group,with a statistically significant difference(P=0.033).At 3 months and 6 months af-ter surgery,there were significant differences in BCVA between the PPV-SSB group and the PPV group(P=0.010,0.004).The incidence of postoperative phacoscotasmus in the PPV-SSB group and the PPV group was 28.89(13/45)and 54.76%(23/42),respectively,with a significant difference(P=0.018),while there were no significant differences in the inci-dence of the remaining few complications(all P>0.05).Conclusion PPV-SSB has a higher retinal reattachment rate,better visual effect and fewer complications in the treatment of inferior RRD.
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Panax ginseng(PG)and Panax notoginseng(PN)are highly valuable Chinese medicines(CM).Although both CMs have similar active constituents,their clinical applications are clearly different.Over the past decade,RNA sequencing(RNA-seq)analysis has been employed to investigate the molecular mechanisms of extracts or monomers.However,owing to the limited number of samples in standard RNA-seq,few studies have systematically compared the effects of PG and PN spanning multiple conditions at the transcriptomic level.Here,we developed an approach that simultaneously profiles transcriptome changes for multiplexed samples using RNA-seq(TCM-seq),a high-throughput,low-cost workflow to molecularly evaluate CM perturbations.A species-mixing experiment was conducted to illustrate the accuracy of sample multiplexing in TCM-seq.Transcriptomes from repeated samples were used to verify the robustness of TCM-seq.We then focused on the primary active components,Panax notoginseng sa-ponins(PNS)and Panax ginseng saponins(PGS)extracted from PN and PG,respectively.We also char-acterized the transcriptome changes of 10 cell lines,treated with four different doses of PNS and PGS,using TCM-seq to compare the differences in their perturbing effects on genes,functional pathways,gene modules,and molecular networks.The results of transcriptional data analysis showed that the tran-scriptional patterns of various cell lines were significantly distinct.PGS exhibited a stronger regulatory effect on genes involved in cardiovascular disease,whereas PNS resulted in a greater coagulation effect on vascular endothelial cells.This study proposes a paradigm to comprehensively explore the differences in mechanisms of action between CMs based on transcriptome readouts.
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Pharmacodynamics material basis and effective mechanisms are the two main issues to decipher the mechnisms of action of Traditional Chinese medicines (TCMs) for the treatment of diseases. TCMs, in "multi-component, multi-target, multi-pathway" paradigm, show satisfactory clinical results in complex diseases. New ideas and methods are urgently needed to explain the complex interactions between TCMs and diseases. Network pharmacology (NP) provides a novel paradigm to uncover and visualize the underlying interaction networks of TCMs against multifactorial diseases. The development and application of NP has promoted the safety, efficacy, and mechanism investigations of TCMs, which then reinforces the credibility and popularity of TCMs. The current organ-centricity of medicine and the "one disease-one target-one drug" dogma obstruct the understanding of complex diseases and the development of effective drugs. Therefore, more attentions should be paid to shift from "phenotype and symptom" to "endotype and cause" in understanding and redefining current diseases. In the past two decades, with the advent of advanced and intelligent technologies (such as metabolomics, proteomics, transcriptomics, single-cell omics, and artificial intelligence), NP has been improved and deeply implemented, and presented its great value and potential as the next drug-discovery paradigm. NP is developed to cure causal mechanisms instead of treating symptoms. This review briefly summarizes the recent research progress on NP application in TCMs for efficacy research, mechanism elucidation, target prediction, safety evaluation, drug repurposing, and drug design.
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Drugs, Chinese Herbal/pharmacology , Network Pharmacology , Artificial Intelligence , Medicine, Chinese Traditional , MetabolomicsABSTRACT
Objective:To report the clinical features, imaging findings and gene mutation features of a Chinese family with cerebral autosomal dominant arteriopathy with subcritical infarcts and leukoencephalopathy (CADASIL).Methods:We summarized the clinical and imaging features of a CADASIL family confirmed by gene sequencing. NOTCH3 gene sequencing was conducted for the proband, and the structure of the protein encoded by the mutant gene was predicted. Results:The patients in this family mainly presented with recurrent lacunar infarction and hypertension, without headache and emotional disorders such as anxiety or depression. Head MRI of the proband showed multiple lacunar infarctions and extensive white matter degeneration. Susceptibility-weighted imaging showed multiple small intracranial hemorrhages. The analysis of NOTCH3 gene showed that the proband had c.697T>A mutation. The 3D structure prediction of the protein encoded by this mutation locus showed that this locus could lead to the conversion of cysteine to serine at the 233rd position. Conclusions:The patients of this CADASIL family have a c.697T>A mutation of NOTCH3 gene. This mutation may cause the change of amino acid in the structure of the wild type Notch3 protein, which may lead to increased formation of β-folding structures in the surrounding region, thus changing the structure and function of protein and causing disease.
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With the modernization and internationalization of traditional Chinese medicine(TCM),the requirement for quality control has increased.The quality marker(Q-marker)is an important standard in this field and has been implemented with remarkable success in recent years.However,the establishment of Q-markers remains fragmented and the process lacks systematicity,resulting in inconsistent quality control and insufficient correlation with clinical efficacy and safety of TCM.This review introduces four multi-modal integrated approaches that contribute to the discovery of more comprehensive and accurate Q-markers,thus aiding in the establishment of new quality control patterns based on the characteristics and principles of TCM.These include the whole-process quality control strategy,chemical-activity-based screening method,efficacy,safety,and consistent combination strategy,and TCM theory-guided approach.Furthermore,methodologies and representative examples of these strategies are described,and important future directions and questions in this field are also proposed.
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Objective To investigate the resistance development of Aedes albopictus to commonly used insecticides in Yangpu District of Shanghai, China, and to provide scientific bases for the control of A. albopictus and the emergency treatment of dengue fever. Methods The larva immersion method recommended by WHO was used to assay the median lethal concentration (LC50) of A. albopictus larva. SPSS 25.0 was used to calculate the toxicity baselines of insecticides. Results A. albopictus kept a medium resistance to beta-cypermethrin, and the resistance ratios were 14.44, 10.00, 17.78, respectively, in 2015, 2017, 2019. The mosquitos kept a high resistance to permethrin, and the resistance ratios were 54.00, 140.00, 52.00 respectively, in 2015, 2017, 2019. Besides, A. albopictus also kept a medium resistance to propoxur, and the resistance ratios were 15.34, 13.06, 10.83 respectively, in 2015, 2017, 2019. To deltamethrin, A. albopictus showed high resistance in 2015 and medium resistance in 2017, the resistance ratios were 40.00 and 35.00. To temephos, A. albopictus showed low resistance in 2015, with the resistance ratio of 9.38. Conclusion A. albopictus has developed high resistance to permethrin in Yangpu District of Shanghai, and cautious and reduced use of permethrin is suggested. It is necessary to implement and adopt the strategy of comprehensive management, in order to establish the long-term mechanism for mosquito control and prevention.
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Objective To investigate the resistance dynamics of Blattella germanica to commonly used insecticides in Yangpu District of Shanghai during 2014‒2020, and to provide the basis for the rational use of insecticides against cockroaches. Methods Blattella germanica was captured in two farmer’s markets in 2014, 2017 and 2020. The residual film method recommended by WHO was used to test resistance of Blattella germanica to the insecticides. Results In 2014, 2017 and 2020, the resistance ratio of Blattella germanica in Yangpu District was 6.96, 4.39, 7.26 to beta-cypermethrin, 10.41, 6.71, 5.24 to permethrin, and 2.28, 3.16, 1.01 to propoxur. Conclusion The resistance of Blattella germanica to permethrin and propoxur decreases, and the resistance to beta-cypermethrin keeps at low level. Comprehensive management and rotation of insecticides should be implemented to delay the increase of resistance.
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Objective To determine the current disinfection quality and understand existing problems in clinical institutions in Yangpu District, and provide scientific evidence for improving hospital infection control. Methods From 2018 to 2020, the specimens were collected from medical instruments, disinfectant in use, dialysis water in hemodialysis rooms, air, surface of objects, sterilization equipment, hands of medical staff, dental therapy water and sewage in clinical institutions in Yangpu District, and then examined for disinfection quality. Results A total of 1 420 samples were collected consecutively in 3 years, in which the total qualified rate was determined to be 88.52%. The qualified rates in secondary and tertiary hospitals, primary health centers, and private clinics were 94.86%, 90.22% and 75.74%, respectively, with a significant difference (χ2=95.01, P<0.01). The qualified rates in sterilization equipment, air, and dialysis water were all 100.00%; in contrast, the rates in medical instruments, surface of objects, hands of medical staff, disinfectants in use, dental therapy water, and sewage were 98.28%, 97.63%, 95.05%, 93.39%, 54.71% and 50.00%, respectively. Conclusion Overall disinfection quality remains good in clinical institutions in Yangpu District of Shanghai, whereas the quality in private clinics is low. In addition, dental therapy water and hospital sewage might be susceptible to contamination, which warrants further improvement in the disinfection and monitoring.
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Parkinson's disease(PD)is the second most common neurodegenerative disease in the world;however,it lacks effective and safe treatments.Ginkgo biloba dropping pill(GBDP),a unique Chinese G.biloba leaf extract preparation,exhibits antioxidant and neuroprotective effects and has a potential as an alternative therapy for PD.Thus,the aims of this study were to evaluate the effects of GBDP in in vitro and in vivo PD models and to compare the chemical constituents and pharmacological activities of GBDP and the G.biloba extract EGb 761.Using liquid chromatography tandem-mass spectrometry,46 GBDP constitu-ents were identified.Principal component analysis identified differences in the chemical profiles of GBDP and EGb 761.A quantitative analysis of 12 constituents showed that GBDP had higher levels of several flavonoids and terpene trilactones than EGb 761,whereas EGb 761 had higher levels of organic acids.Moreover,we found that GBDP prevented 6-hydroxydopamine-induced dopaminergic neuron loss in zebrafish and improved cognitive impairment and neuronal damage in methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced PD mice.Although similar effects were observed after EGb 761 treatment,the neuroprotective effects were greater after GBDP treatment on several endpoints.In addition,in vitro results suggested that the Akt/GSK3β pathway may be involved in the neuroprotective effects of GBDP.These findings demonstrated that GBDP have potential neuroprotective effects in the treatment of PD.
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For multicellular organisms, cell-cell communication is essential to numerous biological processes. Drawing upon the latest development of single-cell RNA-sequencing (scRNA-seq), high-resolution transcriptomic data have deepened our understanding of cellular phenotype heterogeneity and composition of complex tissues, which enables systematic cell-cell communication studies at a single-cell level. We first summarize a common workflow of cell-cell communication study using scRNA-seq data, which often includes data preparation, construction of communication networks, and result validation. Two common strategies taken to uncover cell-cell communications are reviewed, e.g., physically vicinal structure-based and ligand-receptor interaction-based one. To conclude, challenges and current applications of cell-cell communication studies at a single-cell resolution are discussed in details and future perspectives are proposed.
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Animals , Humans , Cell Communication , RNA-Seq , Single-Cell Analysis , TranscriptomeABSTRACT
Preventive treatment of diseases is a traditional Chinese medicine (TCM) concept that conforms to the demand of modern healthcare emphasizing prevention. This concept, however, calls for close and orderly collaboration between general hospitals and primary community healthcare institutions, in order to encourage coordinated regional development. The authors described the new healthcare mode of " One Center, One Platform, and One Network" jointly built and run by Dongguan Municipal Health Bureau and Dongguan TCM Hospital. This practice has pioneered a full-range, closed-loop and one-stop service chain featuring preventive treatment. Such an innovative TCM health management system has realized information interconnection of preventive treatment, and upgraded the capacity and effectiveness of community medical services, hence expanding the number of beneficiaries.
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Objective: To observe clinical and MRI features of ovary adenofibroma (OAF). Methods: Clinical and MRI data of 21 patients with OAF confirmed by surgery and pathology were retrospectively analyzed. Results: Among 21 cases, 15 were asymptomatic, while 4 cases complained of abdominal pain and 2 cases of abdominal distension. CA125 increased in 3 cases, while remained normal in 18 cases. OAF displayed as solid mass, solid cysts or polycystic masses on MRI. Most solid masses showed low signals or bottom signals on T2WI with light to medium enhancements. The solid parts of solid cysts showed very low signals of the polycystic and cystic separation on T2WI without or only slight enhancements. T2WI of the multi-sac cystic masses showed low signal of the wall and the separation with slight enhancement. Conclusion: OAF patients often had no characteristic symptoms, and tumor markers were mostly negative. MRI features were helpful to diagnosis of OAF.
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Objective:To investigate the drug resistance of Pseudomonas aeruginosa to common antibiotics in elderly patients with lower respiratory tract infection.Methods:110 patients with lower respiratory tract infection in our hospital were enrolled in this study from February 2018 to May 2019.The sputum specimens were cultured in vitro, and Pseudomonas aeruginosa was tested for in-vitro susceptibility.The results of drug susceptibility test were analyzed.Results:A total of 60 strains of Pseudomonas aeruginosa were isolated from the 110 elderly patients, with a detection rate of 54.6%.The resistance rate of 60 strains of Pseudomonas aeruginosa to gentamicin was as high as 63.3%, followed by tobramycin(46.7 %), piperacillin( 41.7%), ciprofloxacin( 38.3%), etc.The resistance rate to aztreonam was the lowest(13.3%). The in-vitro susceptibility test was conducted in only 15 patients infected with β-lactamase-producing Pseudomonas aeruginosa.And this test results showed that the drug resistance rates to gentamicin, tobramycin, piperacillin, ciprofloxacin, piperacillin/tazobactam were 100.0%, followed by cefepime, amikacin and cefoperazone, and the resistance rate to aztreonam was the lowest, only 20.0%.Conclusions:Pseudomonas aeruginosa reveals a high resistance to common antibiotics such as gentamicin, piperacillin and cefoperazone.While aztreonam can still exhibit an obvious anti-bacterial activity against Pseudomonas aeruginosa.And it can be used as an alternative medicine in the clinical treatment of lower respiratory tract infection caused by Pseudomonas aeruginosa in elderly patients.
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As the core original thinking of traditional Chinese medicine (TCM), image-thinking has profoundly influenced the occurrence and development of TCM. The clinical application of TCM image thinking in membranous nephropathy is manifested in the pathogenesis, treatment principles and methods, use of drugs, prescription selection and other aspects. This paper expounds the role of image-thinking in the establishment of TCM treatment system of membranous nephropathy from the aspects of theory, method, prescription and medicine. It provides a holistic approach of syndrome differentiation and treatment for membranous nephropathy, and the therapeutic effect is obvious.
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Background Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by a bilateral acute or subacute painless central visual loss in young adults,predominately in males.So far no one theory can completely explain all clinical manifestations of LHON.Objective This study was to investigate whether there is a linkage between X-chromosomal and mitochondrial mutation in the inheritance of a Chinese LHON pedigree with only male patients.Methods This study was approved by Ethic Committee of Affiliated First Hospital of Zhengzhou University and followed by Declaration of Helsinki.A Chinese LHON pedigree was included in Anyang city from January 2008 to August 2016.Periphery blood of 5-10 ml was collected from 4 sufferers,13 maternal members and 10 non-maternal members for DNA extraction and PCR sequencing.The gene scanning and genotyping analysis were performed by ABI-PRISM 3100 genetic analyzer and Genotyper 3.7 software,and linkage analysis was carried out with Linkage software for the calculation of logarithm of odds (LOD).Mitochondrial DNA (mtDNA) sequence,fluorescence-based Genescan for X-chromosomal sequence were analyzed in the propositus and haplotype was evaluated.Results A total of 5 generations and 71 families were included in the pedigree,with 6 male sufferers,30 maternal members and 41 non-maternal members.The visual acuity was ≤0.10,and the central visual field defection,the optic nerve flushing was found in the acute phase,different levels of the optic nerve fibers atrophy were found in the chronic phase;visual evoked potential (VEP) amplitude was low and peak latency were found in the male patients,and no any ocular abnormality was seen in the maternal members,meeting a maternally inherited characteristics,with the penetranee of 20%.The three primnary mutations were not been found in this family bv PCR sequencing,mtDNA sequencing appeared 31 variation of loci in the proband,including a known G3635A mutation,as well as an unknown ND5 A12340G missense mutation and ND4 T11809C synonymous mutation as well as 28 polymorphism of locus,and the proband was mitochondrial haplotype F1.The maternal families were mutation carriers of G3635A and AI2340G loci,while the same mutation was not found in the normal family members and 107 controls.The maximum two point parametric LOD score was 1.46(θ=0.0) for marker DXS1060,1oeated at Xp22.3,and the two-point and multipoint non-parametric linkage analysis were significant (all at P>0.05).Conclusions The ND5 A12340G and ND1 G3635A mutations coexist in this LHON family,and the ND5 A12340G mutation is a newly reported mutation.There is no evidence for an X-linked modifiers loci in this Chinese LHON family.