1.Phenylpropanoids from roots of Berberis polyantha.
Dong-Mei SHA ; Shuai-Cong NI ; Li-Niu SHA-MA ; Hai-Xiao-Lin-Mo MA ; Xiao-Yong HE ; Bin HE ; Shao-Shan ZHANG ; Ying LI ; Jing WEN ; Yuan LIU ; Xin-Jia YAN
China Journal of Chinese Materia Medica 2025;50(6):1564-1568
The chemical constituents were systematically separated from the roots of Berberis polyantha by various chromatographic methods, including silica gel column chromatography, HP20 column chromatography, polyamide column chromatography, reversed-phase C_(18) column chromatography, and preparative high-performance liquid chromatography. The structures of the compounds were identified by physicochemical properties and spectroscopic techniques(1D NMR, 2D NMR, UV, MS, and CD). Four phenylpropanoids were isolated from the methanol extract of the roots of B. polyantha, and they were identified as(2R)-1-(4-hydroxy-3,5-dimethoxyphenyl)-1-propanone-O-β-D-glucopyranoside(1), methyl 4-hydroxy-3,5-dimethoxybenzoate(2),(+)-syringaresinol(3), and syringaresinol-4-O-β-D-glucopyranoside(4). Compound 1 was a new compound, and other compounds were isolated from this plant for the first time. The anti-inflammatory activity of these compounds was evaluated based on the release of nitric oxide(NO) in the culture of lipopolysaccharide(LPS)-induced RAW264.7 macrophages. At a concentration of 10 μmol·L~(-1), all the four compounds inhibited the LPS-induced release of NO in RAW264.7 cells, demonstrating potential anti-inflammatory properties.
Plant Roots/chemistry*
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Animals
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Mice
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Berberis/chemistry*
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RAW 264.7 Cells
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Macrophages/immunology*
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Drugs, Chinese Herbal/isolation & purification*
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Nitric Oxide/metabolism*
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Molecular Structure
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Anti-Inflammatory Agents/isolation & purification*
2.Comparative study on lengthened proximal femoral nail antirotation and InterTan in the treatment of subtrochanteric femur fractures in the elderly.
Zhen-Shan WANG ; Ming-Cong DING ; Jin JIANG ; Jing-Sheng LIU ; Tong-Qun YANG
China Journal of Orthopaedics and Traumatology 2025;38(7):662-667
OBJECTIVE:
To investigate the clinical efficacy of lengthened proximal femoral nail antirotation (PFNA) and InterTan in the treatment of subtrochanteric femur fractures in the elderly.
METHODS:
A retrospective analysis was performed on the data of 65 elderly patients diagnosed with subtrochanteric femoral fractures who met the inclusion criteria between October 2016 and January 2022. The enrolled patients were categorized into two groups according to the type of internal fixation used: the lengthened proximal femoral nail antirotation(PFNA) group and the InterTan group. There were 32 patients in the PFNA group, comprising 20 males and 12 females, with ages ranging from 60 to 85 years old with an average of (69.3±6.7 ) years old. Among these patients, 15 patients resulted from traffic accidents and 17 patients were caused by falls. According to the Seinsheimer classification system, there were 11 patients as type Ⅱ, 14 patients as type Ⅲ, 6 patients as type Ⅳ, and 1 patient as type Ⅴ. The InterTan group comprised 33 patients, including 20 males and 13 females, aged from 60 to 85 years old with an average of (69.8±7.8 ) years old. Of these, 15 patients resulted from traffic accidents, while 18 patients were caused by falls. According to the Seinsheimer classification system, 10 patients as type Ⅱ, 15 patients as type Ⅲ, 7 patients as type Ⅳ, and 1 patient as type Ⅴ. The intraoperative blood loss, operative duration, and fracture healing time were recorded and compared between two groups. The quality of fracture reduction was assessed using Chang's criteria. Additionally, the Harris hip score was utilized to evaluate hip function in both groups at 3 months postoperatively and at the final follow-up.
RESULTS:
All patients were followed up for a period ranging from 10 to 20 months with an average of (14.6±4.5) months. No statistically significant differences were observed between two groups in terms of operation time, intraoperative blood loss, quality of fracture reduction, or reduction methods (P>0.05). Three months after the surgery, the Harris hip score in the InterTan group was 80.0(78.0, 83.5) points, which was significantly higher than that in the PFNA group, which recorded a score of 77.5(75.0, 81.8) points. This difference was statistically significant (P<0.05). At the final follow-up, the Harris hip score in the InterTan group was 80.0(76.5, 87.0), while that in the PFNA group was 78.0(74.3, 82.8). No statistically significant difference was observed between two groups (P>0.05).
CONCLUSION
The use of lengthened PFNA and InterTan in the treatment of elderly subtrochanteric femur fractures can both achieve good treatment results, with the advantages of simple operation, firm fixation, and low failure rate of internal fixation. The lengthened InterTan can achieve better hip function than PFNA.
Humans
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Male
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Female
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Aged
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Aged, 80 and over
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Bone Nails
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Retrospective Studies
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Hip Fractures/surgery*
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Middle Aged
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Fracture Fixation, Intramedullary/instrumentation*
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Fracture Fixation, Internal/methods*
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Femoral Fractures/surgery*
3.Analysis of risk factors, pathogenic bacteria characteristics, and drug resistance of postoperative surgical site infection in adults with limb fractures.
Yan-Jun WANG ; Zi-Hou ZHAO ; Shuai-Kun LU ; Guo-Liang WANG ; Shan-Jin MA ; Lin-Hu WANG ; Hao GAO ; Jun REN ; Zhong-Wei AN ; Cong-Xiao FU ; Yong ZHANG ; Wen LUO ; Yun-Fei ZHANG
Chinese Journal of Traumatology 2025;28(4):241-251
PURPOSE:
We carried out the study aiming to explore and analyze the risk factors, the distribution of pathogenic bacteria, and their antibiotic-resistance characteristics influencing the occurrence of surgical site infection (SSI), to provide valuable assistance for reducing the incidence of SSI after traumatic fracture surgery.
METHODS:
A retrospective case-control study enrolling 3978 participants from January 2015 to December 2019 receiving surgical treatment for traumatic fractures was conducted at Tangdu Hospital of Air Force Medical University. Baseline data, demographic characteristics, lifestyles, variables related to surgical treatment, and pathogen culture were harvested and analyzed. Univariate analyses and multivariate logistic regression analyses were used to reveal the independent risk factors of SSI. A bacterial distribution histogram and drug-sensitive heat map were drawn to describe the pathogenic characteristics.
RESULTS:
Included 3978 patients 138 of them developed SSI with an incidence rate of 3.47% postoperatively. By logistic regression analysis, we found that variables such as gender (males) (odds ratio (OR) = 2.012, 95% confidence interval (CI): 1.235 - 3.278, p = 0.005), diabetes mellitus (OR = 5.848, 95% CI: 3.513 - 9.736, p < 0.001), hypoproteinemia (OR = 3.400, 95% CI: 1.280 - 9.031, p = 0.014), underlying disease (OR = 5.398, 95% CI: 2.343 - 12.438, p < 0.001), hormonotherapy (OR = 11.718, 95% CI: 6.269 - 21.903, p < 0.001), open fracture (OR = 29.377, 95% CI: 9.944 - 86.784, p < 0.001), and intraoperative transfusion (OR = 2.664, 95% CI: 1.572 - 4.515, p < 0.001) were independent risk factors for SSI, while, aged over 59 years (OR = 0.132, 95% CI: 0.059 - 0.296, p < 0.001), prophylactic antibiotics use (OR = 0.082, 95% CI: 0.042 - 0.164, p < 0.001) and vacuum sealing drainage use (OR = 0.036, 95% CI: 0.010 - 0.129, p < 0.001) were protective factors. Pathogens results showed that 301 strains of 38 species of bacteria were harvested, among which 178 (59.1%) strains were Gram-positive bacteria, and 123 (40.9%) strains were Gram-negative bacteria. Staphylococcus aureus (108, 60.7%) and Enterobacter cloacae (38, 30.9%) accounted for the largest proportion. The susceptibility of Gram-positive bacteria to Vancomycin and Linezolid was almost 100%. The susceptibility of Gram-negative bacteria to Imipenem, Amikacin, and Meropenem exceeded 73%.
CONCLUSION
Orthopedic surgeons need to develop appropriate surgical plans based on the risk factors and protective factors associated with postoperative SSI to reduce its occurrence. Meanwhile, it is recommended to strengthen blood glucose control in the early stage of admission and for surgeons to be cautious and scientific when choosing antibiotic therapy in clinical practice.
Humans
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Surgical Wound Infection/epidemiology*
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Male
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Female
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Risk Factors
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Retrospective Studies
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Middle Aged
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Adult
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Case-Control Studies
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Fractures, Bone/surgery*
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Aged
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Drug Resistance, Bacterial
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Logistic Models
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Anti-Bacterial Agents/therapeutic use*
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Incidence
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Bacteria/drug effects*
4.Effects of Licorice chalcone A on proliferation,migration,invasion and oxidative damage of glioma U87 cells through PI3K/Akt signaling pathway
Hong LI ; Shan-Shan WAN ; Zhi-Xin LIU ; Cong-Cong XUE ; Xue-Cheng LI ; Lei YAN
The Chinese Journal of Clinical Pharmacology 2024;40(5):678-682
Objective To investigate the effects of Licorice chalcone A(LCA)on proliferation,migration,invasion and antioxidant capacity of human glioma U87 cells and its mechanism.Methods Glioma U87 cells cultured in vitro were divided into 4 groups,blank control group(conventional culture)and experimental-L,-M,-H groups(5,10,20 μmol·L-1 LC A).Cell proliferation capacity was detected by cell counting kit-8,cell clonogenesis ability was detected by clonogenesis assay,cell migration ability was detected by scratch assay,and cell invasion ability was detected by Transwell assay.Colorimetric assay was used to detect total glutathione(T-GSH),malondialdehyde(MDA)and superoxide dismutase(SOD),and Western blotting was used to detect the protein expression levels of phosphatidylinositol 3-kinase/protein kinase B(PI3K/Akt).Results The cell proliferation activities of blank control group and experimental-L,-M,-H groups were(90.20±2.17)%,(79.06±1.57)%,(66.13±2.11)%and(49.52±1.82)%;cell clone formation rates were(76.83±2.30)%,(42.33±2.09)%,(17.71±1.84)%and(12.12±1.97)%;12 h cell mobility rates were(34.92±2.24)%,(27.90±1.89)%,(18.76±1.14)%and(14.87±0.82)%;24 h cell mobility rates were(50.37±2.61)%,(39.43±2.56)%,(21.11±2.33)%and(18.32±2.39)%;the number of perforated cells were 120.39±4.16,79.95±3.83,45.67±3.55 and 18.14±2.85;T-GSH levels were(71.43±2.39),(58.51±2.91),(49.43±2.78)and(35.44±2.76)μmol·L-1;MDA levels were(4.14±0.91),(7.23±1.75),(9.20±1.56)and(11.37±1.90)nmol·mL-1;SOD levels were(41.44±2.10),(35.43±2.91),(28.56±2.32)and(20.62±2.05)U·mg-1;the relative expression levels of p-Akt were 1.27±0.03,1.06±0.02,0.89±0.01 and 0.60±0.02,respectively.The above indexes were statistically significant between experimental-L,-M,-H groups and blank control group(all P<0.01).Conclusion LCA can inhibit the proliferation,migration,invasion and induce oxidative damage of glioma U87 cells,and its mechanism may be related to the down-regulation of p-Akt protein expression in PI3K/Akt signaling pathway.
5.Molluscicidal effect of Chlorosalicylicamide against Biomphalaria glabrata and Biomphalaria straminea
TU Zhen ; ZHAO Qinping ; LI Bo ; SHAN Xiaowei ; ZHANG Cong ; SUN Lingcong ; YUAN Yi
China Tropical Medicine 2024;24(3):239-
Objective To observe the molluscicidal effect of a new molluscicide, 10% chlorosalicylicamide (LDS), against the intermediate hosts of Schistosoma mansoni - Biomphalaria glabrata and Biomphalaria straminea, thus to provide the experimental foundation for the field application of this molluscicide. Methods The 10% LDS was formulated into the series of standard solutions with effective concentrations of 0.400 0, 0.200 0, 0.100 0, 0.050 0, 0.025 0 mg/L and 0.012 5 mg/L, respectively. B. glabrata and B. straminea were separately immersed in these solutions in the laboratory. The deaths of the above snails were observed after immersing into the solutions for 24, 48, and 72 h, and the mortalities of each group were computed, as well as the median lethal concentration LC50 (s) and relative toxicity indexes were calculated. Meanwhile, 50% wettable power of niclosamide ethanolamine salt (WPN) was set as the drug group, and dechlorinated water as the blank control group. Results The effective concentration of LDS at or above 0.100 0 mg/L, or WPN at or above 0.200 0 mg/L resulted in a 100% mortality rate for B. glabrata and B. straminea after immersing 24, 48, and 72 h. The LC50 (s) at 24, 48, and 72 hours for Biomphalaria glabrata immersed in the LDS series concentration solution was 0.047 95, 0.046 52, and 0.037 10 mg/L, respectively; while the LC50 (s) of B. glabrata in WPN serial solutions was 0.063 48, 0.057 05, 0.057 05 mg/L for 24, 48 and 72 h, respectively. For Biomphalaria straminea, the LC50 (s) at 24, 48, and 72 hours in the LDS solution was 0.012 35, 0.013 99, and 0.008 40 mg/L, respectively; and for the WPN solution, it was 0.058 95, 0.025 71, and 0.0237 5 mg/L. Using WPN as the standard drug which had higher value of LC50, and the relative toxicity index of WPN was set to 1.00, the relative toxicity indexes of LDS against B. glabrata were 1.32, 1.23 and 1.54 for 24, 48 h and 72 h, respectively, while for B. straminea, it was 4.77, 1.84, and 2.83. After 24, 48, and 72 hours of immersion in LDS, the number of surviving B. glabrata was significantly higher than that of B. straminea, with a statistical significance (χ2=8.044, 5.263, 4.658, P<0.05, respectively). Conclusions Compared to the traditional molluscicide WPN, 10% LDS shows a superior molluscicidal effect on B. glabrata and B. straminea, especially demonstrating heightened sensitivity and efficacy on B. straminea, suggesting its potential as a substitute agent for snail control.
6.Serum S100A4,FNDC5 levels in patients with gestational diabetes mellitus and their relationship with pregnancy outcome
Jing LIU ; Cong ZHOU ; Shan HE
International Journal of Laboratory Medicine 2024;45(13):1617-1621,1626
Objective To investigate the serum S100 calcium-binding protein A4(S100A4)and fibronectin type Ⅲ domain-containing 5(FNDC5)levels in patients with gestational diabetes mellitus(GDM)and their relationship with pregnancy outcomes.Methods From June 2020 to June 2022,a total of 126 patients with GDM in the hospital were included into GDM group,and 126 healthy pregnant women who underwent prena-tal check ups during the same period were selected as the control group.According to the pregnancy outcome of GDM patients,they were grouped into a good pregnancy outcome group(76 cases)and a adverse pregnancy outcome group(50 cases).The levels of S100A4 and FNDC5 were detected by enzyme linked immunosorbent assay(ELISA).Multivariate Logistic regression analysis was applied to analyze the influencing factors of pregnancy outcome in GDM pregnant women.Receiver operating characteristic(ROC)curve was applied to e-valuate the value of serum S100A4 and FNDC5 in predicting adverse pregnancy outcomes in GDM pregnant women.Spearman correlation analysis was applied to analyze the correlation between serum S100A4,FNDC5 and adverse pregnancy outcomes.Results The serum S100A4 level in GDM group was higher than that in control group(P<0.05),while the serum FNDC5 level was lower than that in control group(P<0.05).The serum S100A4 level in the good pregnancy outcome group was lower than that in the adverse pregnancy out-come group(P<0.05),while the serum FNDC5 level was higher than that in the adverse pregnancy outcome group(P<0.05).Spearman correlation analysis showed that serum S100A4 level in GDM patients was posi-tively correlated with adverse pregnancy outcomes(P<0.05),while FNDC5 level was negatively correlated with adverse pregnancy outcomes(P<0.05).Logistic regression analysis showed that serum S100A4,fasting blood glucose,and HOMA-IR were risk factors for adverse pregnancy outcomes in GDM patients(P<0.05),and FNDC5 was a protective factor for adverse pregnancy outcomes in GDM patients(P<0.05).The area un-der the curve of the combination of serum S100A4 and FNDC5 in predicting pregnancy outcomes in GDM was greater than that of S100A4 alone(Z=2.045,P=0.041)and FNDC5 alone(Z=2.010,P=0.044).Conclu-sion The level of S100A4 in the serum of GDM patients is high,and the level of FNDC5 is low.Both have certain reference value for evaluating the pregnancy outcome of GDM pregnant women.
7.Correlation between serum miR-29a-3p,THBS2 and cardiopulmonary function in children with chronic pulmonary heart disease
Rui LIU ; Yanli LUO ; Cong TIAN ; Lifen GAO ; Shan LI ; Yi HAN
International Journal of Laboratory Medicine 2024;45(17):2136-2140
Objective To explore the correlation between serum microRNA-29a-3p(miR-29a-3p),throm-bospondin 2(THBS2)and cardiopulmonary function in children with chronic pulmonary heart disease.Meth-ods A total of 136 children with chronic pulmonary heart disease treated in Shijiazhuang Hospital of Tradi-tional Chinese Medicine from July 2019 to September 2023 were selected as the study subjects.Based on their clinical signs,cardiopulmonary function,and symptoms,they were divided into a compensated group(74 ca-ses)and a decompensated group(62 cases).Real-time fluorescence quantitative PCR(RT-qPCR)method was applied to detect serum miR-29a-3p level,and enzyme-linked immunosorbent assay(ELISA)was applied to detect serum THBS2 level.Moreover,ultrasound diagnostic equipment was applied to detect cardiac function indicators such as left ventricular ejection fraction(LVEF)and cardiac output(CO).Creatine kinase isoenzyme(CK-MB)and troponin(cTnl)were detected by electroluminescence analysis.Pulmonary function indicators were detected by pulmonary artery systolic pressure(PASP),mean pulmonary artery pressure(MPAP)and pulmonary artery diastolic pressure(PADP).Pearson correlation was used to analyze the corre-lation between serum miR-29a-3p and THBS2 levels and cardiopulmonary function indexes in children with chronic pulmonary heart disease,and multivariate Logistic regression analysis was used to screen the influen-cing factors of the disease in children with chronic pulmonary heart disease.Receiver operating characteristic(ROC)curve was drawn to analyze the evaluation value of serum miR-29a-3p and THBS2 levels in children with chronic pulmonary heart disease.Results The THBS2,CK-MB,cTnI,PASP,MPAP,and PADP in the decompensated group were higher than those in the compensated group(P<0.05),while miR-29a-3p,LVEF,and CO were lower than those in the compensated group(P<0.05).Serum miR-29a-3p in children with chro-nic pulmonary heart disease was positively correlated with LVEF and CO(P<0.05),but negatively correla-ted with CK-MB,cTnI,PASP,MPAP,and PADP(P<0.05).THBS2 was negatively correlated with LVEF and CO(P<0.05),but positively correlated with CK-MB,cTnI,PASP,MPAP,and PADP(P<0.05).MiR-29a-3p was a protective factor for exacerbation of chronic pulmonary heart disease in children(P<0.05),while THBS2 was an independent risk factor for exacerbation of chronic pulmonary heart disease in children(P<0.05).ROC curve analysis results showed that the area under the curve(AUC)of serum miR-29a-3p and THBS2 levels alone and in combination for evaluating the severity of chronic pulmonary heart disease in children were 0.827,0.817 and 0.915,respectively.Conclusion Serum miR-29a-3p and THBS2 levels are both factors affecting the disease of children with chronic pulmonary heart disease,and are closely related to the disease and cardiopulmonary function of children with chronic pulmonary heart disease.
8.Clinical characteristics of ankylosing spondylitis complicated with osteoporosis in different ethnic groups in Xinjiang
Jiao SUN ; Dong XU ; Shan CONG ; Wenjing DU ; Li LUO
Chinese Journal of Rheumatology 2024;28(7):483-487
Objective:To explore the status of osteoporosis in patients with ankylosing spondylitis in the Han and four other ethnic minorities in Xinjiang.Methods:From January 2019 to June 2020, 89 patients with ankylosing spondylitis who were hospitalized in the Rheumatology and Immunology Department of the First Affiliated Hospital of Xinjiang Medical University with complete data were collected. Age, sex, body mass index, course of the disease, blood calcium, phosphorus, alkaline phosphatase, 25 hydroxy-vitamin D 3 level, Creactive protein, erythrocyte sedimentation rate, human leukocyte antigen B27, family history, peripheral joint involvement were analyzed between Han and ethnic minority patients. Extra-articular manifestations, presence or absence of fracture, and bone mineral density were analyzed with SPSS 26.0. Quantitative data were described using s and independent sample t-test. Counting data was described using n (%) and Pearson χ2 test. The rank sum test was used for econometric data and grade data that were not meet with normal distribution. Results:Among the 89 patients, 46 were Han and 43 were ethnic minorities, with an average age of (37.2±8.4) years. Seventeen patients had osteoporosis, of which 7 were Han and 10 were ethnic minorities. The mean age was (34.2±10.4) years. and the course of disease was (11.6±4.9)months. Among the patients with osteoporosis, the age of ethnic minority patients was younger [ethnic minority (25.4±10.7)years vs. Han (37.8±10.5)years, t=2.48 , P=0.021], and the duration of disease was shorter (month) [ethnic minority (5.4±2.6)months vs. Han (8.5±2.0)months, t=2.63 , P=0.015]. Conclusion:Although ankylosing spondylitis is mainly in young people, osteoporosis is not uncommon. Ethnic minority patients with ankylosing spondylitis complicated with osteoporosis are younger in age and shorter in course of disease than Han patients.
9.Aspirin alleviates OGD/R-induced injury in mouse hippocampal neurons by regulating ferroptosis
Yujiao HU ; Shan CONG ; Lei ZHAO ; Chunxue DONG ; Dongmei WANG ; Nannan WANG ; Ying MAO
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2024;26(8):960-964
Objective To investigate the effect of aspirin on oxygen glucose deprivation/reoxygen-ation(OGD/R)-induced injury in mouse hippocampal neuron HT22 cells by regulating ferropto-sis.Methods HT22 cells were randomly divided into control group,model group,low-,medium-and high-dose groups(n=3).Cellular OGD/R injury model was established in the other 4 groups except the control group.Aspirin of 100,200 and 400 μg/ml was used to treat the cells from the above 3 treatment groups,respectively.Cell viability was detected by CCK-8 assay.The contents of TNF-α,IL-1β and IL-6 were detected by ELISA.The contents of SOD,catalase,glutathione,reac-tive oxygen species(ROS),lactate dehydrogenase(LDH),Fe2+and MDA were detected by the corresponding reagent kits.Western blot analysis was performed to determine the expression of solute carrier family 7 members 11(SLC7A11),glutathione peroxidase 4(GPX4)and Acyl-CoA synthase long chain member 4(ACSL4).Results The model group had significantly lower cell vi-ability than the control group(0.49±0.07 vs 1.00±0.12,P<0.01),but the viability of the low-,medium-and high-dose groups were higher than that of the model group(0.72±0.10 vs 0.49±0.07,P<0.05;0.87±0.10 vs 0.49±0.07,P<0.01;0.93±0.07 vs 0.49±0.07,P<0.01).Compared with the control group,the contents of TNF-α,IL-1β,IL-6,ROS,LDH,Fe2 and MDA and the protein expression of ACSL4 were significantly increased,while the contents of SOD,catalase,glutathione and protein levels of SLC7A11 and GPX4 were obviously decreased in the model group(P<0.01).Compared with model group,aspirin treatment reversed all above indicators no matter its doses(P<0.05,P<0.01).Conclusion Aspirin alleviates OGD/R-induced neuronal in-jury through regulating ferroptosis in mouse neuron HT22 cells in a dose-dependent manner.
10.Clinical and genetic characteristics of a case of primary ciliary dyskinesia caused by new frameshift mutation of the DNAH5 gene
Meng-Yang LI ; Shan HUANG ; Li-Na MA ; An-Cong WANG
National Journal of Andrology 2024;30(1):44-50
Objective:To investigate the clinical and genetic characteristics of a case of primary ciliary dyskinesia(PCD).Methods:We collected the clinical data on a case of PCD treated in the Department of Reproductive Medicine of Linyi People's Hospi-tal in July 2020,detected the genes of the patient by whole-exome sequencing(WES),verified the candidate mutations by Sanger se-quencing,and predicted the protein structure of the mutant gene by SWISS-MODEL.Results:The proband was found with the clini-cal phenotypes of chronic rhinitis,bronchiectasis,visceral transposition and male infertility.WES revealed a homozygous frameshift variation of c.12890dup(p.N4297Kfs*13)in exon 74 of the DNAH5 gene,which led to the premature termination of polypeptide chain synthesis and affected the gene function.SWISS-MODEL prediction showed that some of the amino acid residues were deleted af-ter mutation,resulting in a 3D conformational change of the protein.This variation was not recorded in the ClinVar,gnomAD and OMIM databases and,according to the relevant guidelines of the American College of Genetics and Genomics,was classified as a path-ogenic variation(PVS1+PM2_P+PM3_P).Conclusion:The homozygous variation of the DNAH5 gene c.12890dup(p.N4297Kfs*13)may be the cause of the clinical phenotype of this case of PCD,and the above findings have enriched the variation spectrum of the DNAH5 gene.

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