1.The application value of multi-parameter quantitative analysis of spectral and perfusion CT in differentiat-ing pathological types of lung cancer
Xiaokun GAO ; Ziming XIE ; Guangyu TAO ; Yanbing SUN ; Hua REN ; Jiahui YU ; Lin ZHU ; Hong YU ; Qiming NI
The Journal of Practical Medicine 2025;41(19):3096-3105
Objective This study aims to explore the application value of spectral CT and perfusion CT parameters in the pathological classification and prognostic assessment of lung cancer.Methods A total of 94 lung cancer patients confirmed by pathology at Shanghai Chest Hospital from January 2023 to November 2024 were included in the study,including 49 cases of lung adenocarcinoma(LUAD),30 cases of lung squamous cell carci-noma(LUSC),and 15 cases of small cell lung cancer(SCLC).All patients underwent spectral CT combined with perfusion scanning using a 256-slice Revolution Apex from GE.Two radiologists independently measured the spectral and perfusion parameters of the three groups of images,including spectral curve slope(K),iodine concentration in the lesion area(ICL),effective atomic number(Zeff),surface permeability(PS),and perfusion index(PI),and established a lung cancer pathological subtype discrimination prediction model based on spectral CT radiomics features.All subjects were randomly divided into a training group and a validation group at a ratio of 3∶1.The discrimination efficacy of the spectral discrimination model between different pathological subtypes and the discrimination efficacy of arterial and venous phase images were compared in multiple dimensions.The performance of the model was evaluated using the receiver operating characteristic(ROC)curve.Results Statistical analysis showed that the spectral curve slope,ICL,NIC,and Zeff of LUAD patients were significantly higher than those of LUSC and SCLC patients(P<0.05),while there were no significant differences in these parameters between LUSC and SCLC patients(P>0.05).Among the perfusion CT parameters,surface permeability(PS)showed significant differences among the three groups(P<0.05),while blood volume(BV),blood flow(BF),perfusion index(PI),time to peak(TTP),and mean transit time(MTT)did not show statistical differences.The multi-factor logistic regression model based on spectral parameters showed strong discriminatory performance:the area under the curve(AUC)of the LUAD and LUSC discrimination model was 0.806/0.77(training group/test group)in the arterial phase and 0.867/0.9(training group/test group)in the venous phase;the AUC of the LUAD and SCLC discrimination model was 0.885/0.883(training group/test group)in the arterial phase and 0.851/0.776(training group/test group)in the venous phase.Conclusion This study indicates that the multi-dimensional functional metabolic analysis indicators of spectral and perfusion CT imaging have significant value in the differential diagnosis of lung cancer pathological subtypes.The diagnostic model constructed by combining multiple spectral parameters can significantly improve the discrimination efficacy of lung adenocarcinoma,squamous cell carcinoma,and small cell lung cancer,providing precise imaging evidence for the formulation of individualized treatment plans.
2.The efficacy and safety of nebulized inhalation of recombinant human interferon α1b in the treatment of pediatric respiratory syncytial viral associated lower respiratory tract infections: a multicenter, randomized, double-blind, placebo-controlled phase Ⅲ clinical study
Xiaohui LIU ; Baoping XU ; Yunxiao SHANG ; Han ZHANG ; Zhenkun ZHANG ; Guangyu LIN ; Ju YIN ; Aihua CUI ; Guocheng ZHANG ; Zhaoling SHI ; Liwei GAO ; Chunming JIANG ; Junmei BIAN ; Yongjian HUANG ; Rongfang ZHANG ; Xiaomei LIU ; Xiaoqing YANG ; Yu TANG ; Lili ZHONG ; Hongmei QIAO ; Chuangli HAO ; Yuqing WANG ; Qubei LI ; Ling CAO ; Yungang YANG ; Ling LU ; Rongjun LIN ; Xingzhen SUN ; Wei ZHOU ; Qiang CHEN ; Jikui DENG ; Yuejie ZHENG ; Lin ZHAO ; Tao AI ; Xiaohong LIU ; Xiaoxia LU ; Ning JIANG ; Ming LI
Chinese Journal of Applied Clinical Pediatrics 2025;40(3):180-186
Objective:To evaluate the efficacy and safety of nebulized inhalation of recombinant human interferon (IFN) α1b injection in the treatment of respiratory syncytial virus (RSV) associated lower respiratory tract infections (pneumonia and bronchiolitis) in children.Methods:A randomized, double-blind, parallel, placebo-controlled add-on design was used.Children with pneumonia or bronchiolitis aged 2 months to 5 years who tested positive for RSV antigen within 72 hours of onset from 30 clinical trial sites including Beijing Children′s Hospital, Capital Medical University between February 2021 and December 2022 were included in this study and randomly divided into 2 groups at a ratio of 1∶1 based on a stratified-block method.Both groups received basic treatments such as cough control, asthma relieving, expectorant treatment, fever reduction, oxygen therapy, etc.The experimental group received additional nebulized inhalation of IFN α1b injection at a dose of 2.0 μg/(kg·time), twice a day.The control group received nebulized inhalation of placebo twice a day.Clinical efficacy was evaluated based on indicators such as the duration of clinical symptoms and signs, and the Kaplan-Meier method was used to calculate the median and 95% CI of the duration of clinical symptoms and signs.The Log-rank test was used to compared data between groups.Safety was assessed through the incidence of adverse reactions and laboratory tests, and the Chi-square test was used to analyze the difference between groups. Results:There were 123 children in the experimental group and 122 children in the control group.The median durations of all the 5 clinical symptoms and signs [including shortness of breath, wheezing, dyspnea (visible retractions), decreased transcutaneous oxygen saturation, and abnormal mental state] in the experimental group after treatment were slightly shortened than those in the control group [2.7 d(95% CI: 1.9-3.0 d)] vs.[2.9 d(95% CI: 2.6-3.6 d), P=0.027].The improvement in dyspnea (retractions) was especially pronounced in the experimental group, with a relief rate of 50.0% (0, 100%) on the first day of administration[compared with 0 (0, 50.0%) in the control group ( Z=2.002, P=0.025)].The median duration of dyspnea in the experimental group was nearly 1 day shorter than that in the control group [1.0 d(95% CI: 0.7-1.7 d) vs.1.8 d(95% CI: 1.0-2.5 d), P=0.046].There were no significant difference in hospital stay [6.0(5.0, 8.0) d vs.6.5(5.0, 8.0) d, Z=0.675, P=0.500], oxygen therapy duration [32.0(14.0, 96.3) h vs.39.0 (24.0, 83.2) h, Z=0.094, P=0.925], the recovery rate from clinical symptoms during treatment [(105/106, 99.1%) vs.(96/101, 95.0%)], and recurrence rate [(0/106, 0) vs.(2/101, 2.0%)] between the 2 groups (all P>0.05).However, the above-mentioned four indicators in the experimental group showed a trend of clinical benefits.The quantitative virus detection results showed that the RSV viral load in both groups decreased after treatment compared to before treatment.After 2 days of treatment, the decline rate of RSV viral load from the baseline was 0.90 lg copies/(mL·d) in the experimental group and 0.25 lg copies/(mL·d)in the control group, with a statistically significant difference ( P<0.05).Furthermore, there was no statistically significant difference in the incidence of adverse reactions between the 2 groups ( P>0.05).Importantly, no drug-related serious adverse reactions occurred in both groups. Conclusions:The nebulized inhalation therapy of IFN α1b demonstrates efficacy and safety in treating pediatric RSV associated lower respiratory tract infections.It particularly offers outstanding clinical therapeutic value for severe children.
3.The application value of multi-parameter quantitative analysis of spectral and perfusion CT in differentiat-ing pathological types of lung cancer
Xiaokun GAO ; Ziming XIE ; Guangyu TAO ; Yanbing SUN ; Hua REN ; Jiahui YU ; Lin ZHU ; Hong YU ; Qiming NI
The Journal of Practical Medicine 2025;41(19):3096-3105
Objective This study aims to explore the application value of spectral CT and perfusion CT parameters in the pathological classification and prognostic assessment of lung cancer.Methods A total of 94 lung cancer patients confirmed by pathology at Shanghai Chest Hospital from January 2023 to November 2024 were included in the study,including 49 cases of lung adenocarcinoma(LUAD),30 cases of lung squamous cell carci-noma(LUSC),and 15 cases of small cell lung cancer(SCLC).All patients underwent spectral CT combined with perfusion scanning using a 256-slice Revolution Apex from GE.Two radiologists independently measured the spectral and perfusion parameters of the three groups of images,including spectral curve slope(K),iodine concentration in the lesion area(ICL),effective atomic number(Zeff),surface permeability(PS),and perfusion index(PI),and established a lung cancer pathological subtype discrimination prediction model based on spectral CT radiomics features.All subjects were randomly divided into a training group and a validation group at a ratio of 3∶1.The discrimination efficacy of the spectral discrimination model between different pathological subtypes and the discrimination efficacy of arterial and venous phase images were compared in multiple dimensions.The performance of the model was evaluated using the receiver operating characteristic(ROC)curve.Results Statistical analysis showed that the spectral curve slope,ICL,NIC,and Zeff of LUAD patients were significantly higher than those of LUSC and SCLC patients(P<0.05),while there were no significant differences in these parameters between LUSC and SCLC patients(P>0.05).Among the perfusion CT parameters,surface permeability(PS)showed significant differences among the three groups(P<0.05),while blood volume(BV),blood flow(BF),perfusion index(PI),time to peak(TTP),and mean transit time(MTT)did not show statistical differences.The multi-factor logistic regression model based on spectral parameters showed strong discriminatory performance:the area under the curve(AUC)of the LUAD and LUSC discrimination model was 0.806/0.77(training group/test group)in the arterial phase and 0.867/0.9(training group/test group)in the venous phase;the AUC of the LUAD and SCLC discrimination model was 0.885/0.883(training group/test group)in the arterial phase and 0.851/0.776(training group/test group)in the venous phase.Conclusion This study indicates that the multi-dimensional functional metabolic analysis indicators of spectral and perfusion CT imaging have significant value in the differential diagnosis of lung cancer pathological subtypes.The diagnostic model constructed by combining multiple spectral parameters can significantly improve the discrimination efficacy of lung adenocarcinoma,squamous cell carcinoma,and small cell lung cancer,providing precise imaging evidence for the formulation of individualized treatment plans.
4.The efficacy and safety of nebulized inhalation of recombinant human interferon α1b in the treatment of pediatric respiratory syncytial viral associated lower respiratory tract infections: a multicenter, randomized, double-blind, placebo-controlled phase Ⅲ clinical study
Xiaohui LIU ; Baoping XU ; Yunxiao SHANG ; Han ZHANG ; Zhenkun ZHANG ; Guangyu LIN ; Ju YIN ; Aihua CUI ; Guocheng ZHANG ; Zhaoling SHI ; Liwei GAO ; Chunming JIANG ; Junmei BIAN ; Yongjian HUANG ; Rongfang ZHANG ; Xiaomei LIU ; Xiaoqing YANG ; Yu TANG ; Lili ZHONG ; Hongmei QIAO ; Chuangli HAO ; Yuqing WANG ; Qubei LI ; Ling CAO ; Yungang YANG ; Ling LU ; Rongjun LIN ; Xingzhen SUN ; Wei ZHOU ; Qiang CHEN ; Jikui DENG ; Yuejie ZHENG ; Lin ZHAO ; Tao AI ; Xiaohong LIU ; Xiaoxia LU ; Ning JIANG ; Ming LI
Chinese Journal of Applied Clinical Pediatrics 2025;40(3):180-186
Objective:To evaluate the efficacy and safety of nebulized inhalation of recombinant human interferon (IFN) α1b injection in the treatment of respiratory syncytial virus (RSV) associated lower respiratory tract infections (pneumonia and bronchiolitis) in children.Methods:A randomized, double-blind, parallel, placebo-controlled add-on design was used.Children with pneumonia or bronchiolitis aged 2 months to 5 years who tested positive for RSV antigen within 72 hours of onset from 30 clinical trial sites including Beijing Children′s Hospital, Capital Medical University between February 2021 and December 2022 were included in this study and randomly divided into 2 groups at a ratio of 1∶1 based on a stratified-block method.Both groups received basic treatments such as cough control, asthma relieving, expectorant treatment, fever reduction, oxygen therapy, etc.The experimental group received additional nebulized inhalation of IFN α1b injection at a dose of 2.0 μg/(kg·time), twice a day.The control group received nebulized inhalation of placebo twice a day.Clinical efficacy was evaluated based on indicators such as the duration of clinical symptoms and signs, and the Kaplan-Meier method was used to calculate the median and 95% CI of the duration of clinical symptoms and signs.The Log-rank test was used to compared data between groups.Safety was assessed through the incidence of adverse reactions and laboratory tests, and the Chi-square test was used to analyze the difference between groups. Results:There were 123 children in the experimental group and 122 children in the control group.The median durations of all the 5 clinical symptoms and signs [including shortness of breath, wheezing, dyspnea (visible retractions), decreased transcutaneous oxygen saturation, and abnormal mental state] in the experimental group after treatment were slightly shortened than those in the control group [2.7 d(95% CI: 1.9-3.0 d)] vs.[2.9 d(95% CI: 2.6-3.6 d), P=0.027].The improvement in dyspnea (retractions) was especially pronounced in the experimental group, with a relief rate of 50.0% (0, 100%) on the first day of administration[compared with 0 (0, 50.0%) in the control group ( Z=2.002, P=0.025)].The median duration of dyspnea in the experimental group was nearly 1 day shorter than that in the control group [1.0 d(95% CI: 0.7-1.7 d) vs.1.8 d(95% CI: 1.0-2.5 d), P=0.046].There were no significant difference in hospital stay [6.0(5.0, 8.0) d vs.6.5(5.0, 8.0) d, Z=0.675, P=0.500], oxygen therapy duration [32.0(14.0, 96.3) h vs.39.0 (24.0, 83.2) h, Z=0.094, P=0.925], the recovery rate from clinical symptoms during treatment [(105/106, 99.1%) vs.(96/101, 95.0%)], and recurrence rate [(0/106, 0) vs.(2/101, 2.0%)] between the 2 groups (all P>0.05).However, the above-mentioned four indicators in the experimental group showed a trend of clinical benefits.The quantitative virus detection results showed that the RSV viral load in both groups decreased after treatment compared to before treatment.After 2 days of treatment, the decline rate of RSV viral load from the baseline was 0.90 lg copies/(mL·d) in the experimental group and 0.25 lg copies/(mL·d)in the control group, with a statistically significant difference ( P<0.05).Furthermore, there was no statistically significant difference in the incidence of adverse reactions between the 2 groups ( P>0.05).Importantly, no drug-related serious adverse reactions occurred in both groups. Conclusions:The nebulized inhalation therapy of IFN α1b demonstrates efficacy and safety in treating pediatric RSV associated lower respiratory tract infections.It particularly offers outstanding clinical therapeutic value for severe children.
5.A case of autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant and literature review
Guangyu WANG ; Haoyang LIU ; Shengjun WANG ; Chuanzhu YAN ; Pengfei LIN
Chinese Journal of Neurology 2024;57(3):266-272
Objective:To discuss the clinical characteristics of autosomal recessive spinocerebellar ataxia type 16 patients caused by STUB1 gene mutation, in order to improve the clinical doctors′ understanding of the disease. Methods:The clinical manifestations, auxiliary examinations and genetic testing of 1 autosomal recessive spinocerebellar ataxia type 16 patient caused by STUB1 gene variants diagnosed in Qilu Hospital of Shandong University in May 2022 were collected, and the relevant literature was reviewed to summarize the clinical and genetic characteristics of this type of disease. Results:The proband was a 35-year-old male presenting with unsteady walk and dysarthria. Magnetic resonance imaging showed cerebellar atrophy. Next generation sequencing revealed compound heterozygous c.322dupG (p.Glu108Glyfs *4) and c.433A>C (p.Lys145Gln) variants in the STUB1 gene (according to the transcript NM_005861.4), and the c.322dupG (p.Glu108Glyfs *4) variant was a novel variant. Pedigree verification revealed the 2 variants were respectively inherited from the proband′s healthy parents. A total of 12 foreign literatures reported 32 autosomal recessive spinocerebellar ataxia type 16 patients. The main clinical manifestations were ataxia, dysarthria and tendon hyperreflexia. Besides, nystagmus, spasticity, action tremors, and myoclonus can be present. Magnetic resonance imaging predominantly showed cerebellar atrophy. Conclusions:The patient with autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant is rare in China. The main clinical manifestation is cerebellar ataxia, and brain imaging reveals remarkable cerebellar atrophy. Genetic testing is helpful for definite diagnosis.
6.Comparison of totally laparoscopic and laparoscopic-assisted approach in gastrectomy with D2 lymphadenectomy for advanced gastric cancer after neoadjuvant chemotherapy: a retrospective comparative study
Zhenyu CHEN ; Guangyu CHEN ; Yan LI ; Sha KOU ; Tao WANG ; Lin ZHANG ; Yongkuan CAO ; Liye LIU
Annals of Surgical Treatment and Research 2024;106(4):218-224
Purpose:
Neoadjuvant chemotherapy is strongly recommended for advanced gastric cancer due to good local control and a high rate of R0 dissection with this strategy. Minimally invasive techniques such as laparoscopy-assisted or total laparoscopic approaches is becoming more and more acceptable in the treatment for gastric cancer. However, the safety and efficiency of total laparoscopic D2 gastrectomy (TLG) for advanced gastric cancer after neoadjuvant chemotherapy have not been well evaluated.
Methods:
A retrospective study in a single center from 2014 to 2016 was conducted. A total of 65 locally advanced gastric cancers were treated by laparoscopy-assisted gastrectomy (LAG) or TLG. Parameters which include operation time, blood loss, complications, hospital stay, 3-year overall survival, and 3-year disease-free survival were used for comparison.
Results:
The time of operation in the TLG group was shorter than in the LAG group (P = 0.013), blood loss was less (P = 0.002) and time to first flatus was shorter (P = 0.039) in the TLG group than that in the LLG group. Intraoperative and postoperative complications were comparable in both groups. No significant difference was found in 3-year overall and disease-free survival.
Conclusion
For patients with locally advanced gastric cancer after neoadjuvant chemotherapy, laparoscopic D2 gastrectomy can be considered as a safe and efficient alternative. A further multicenter prospective randomized controlled study is needed to elucidate the applicability of this technique for advanced gastric cancer.
7.Predictive value of preoperative frailty for pulmonary complications after cardiac surgery in elderly patients
Guanglei FAN ; Guangyu MA ; Wei XU ; Shuyang FU ; Shuchi LIN ; Mingzhu ZHENG ; Tianchi SHAN ; Wenjing ZHAO
The Journal of Clinical Anesthesiology 2023;39(12):1255-1259
Objective To investigate the predictive value of preoperative frailty for pulmonary com-plications(PPCs)after cardiac surgery in elderly patients.Methods A total of 162 elderly patients,109 males and 53 females,aged 65-83 years,BMI 18-36 kg/m2,ASA physical status Ⅱ-Ⅳ,underwent elec-tive open heart surgery from July 2022 to January 2023 were collected.The patients were divided into two groups according to the occurrence of PPCs:the PPCs group(n=57)and the non-PPCs group(n=105).General information,smoking history,alcohol consumption history,EuroSCORE Ⅱ,frailty,chronic comorbidities(hypertension,diabetes mellitus,myocardial infarction,pulmonary hypertension,chronic ob-structive pulmonary disease,sleep apnea syndrome,etc.),Hb,creatinine,albumin,pulmonary function indices,left ventricular ejection fraction,type of surgery,duration of surgery,aortic clamping time,and cardiopulmonary bypass time were collected.Factors with P<0.2 and clinically significant in the univariate regression analysis were included in the multivariate logistic regression analysis,and the predictive efficacy of the Fried frailty scale and EuroSCORE Ⅱ for PPCs were compared by the area under the ROC curve(AUC).Results PPCs occurred in 57 patients(35.2%).Multifactorial Logistic regression analysis showed that frailty(OR=3.14,95%CI 1.05-9.37,P<0.05)and EuroSCORE Ⅱ(OR=2.16,95%CI 1.01-4.60,P<0.05)were risk factors for the development of PPCs.The predictive power of Fried frailty scale(AUC=0.76,95%CI 0.68-0.82)was significantly higher than that of EuroSCORE Ⅱ(AUC=0.65,95%CI 0.57-0.72)(P<0.05).Conclusion Preoperative frailty is the independent risk factors for pulmonary complications after cardiac surgery in elderly patients,and the Fried frailty scale has a better predictive efficacy compared to EuroSCORE Ⅱ,a traditional risk predictor.
8.Analysis of complicated virus infection and clinical characteristics in 100 infants with pertussis
Xinyi HAN ; Xiaoying CAI ; Guangyu LIN ; Chuangxing LIN ; Xiaohua ZHOU ; Junduo CHEN ; Zexin HUANG
Chinese Pediatric Emergency Medicine 2023;30(5):334-339
Objective:To investigate the complicated virus infection of infants with pertussis and its effect on the disease.Methods:From January 2019 to March 2020, a total of 100 hospitalized infants with pertussis were admitted to the Second Affiliated Hospital of Medical College of Shantou University, nasopharyngeal swabs were collected for detection of ten pathogens including pertussis, namely respiratory syncytial virus(RSV), parainfluenza virus(PIV), bordetella pertussis (BP), human rhinovirus(HRV), human bocavirus(HBoV), human metapneumovirus(hMPV), influenza B virus (INF-B), adenovirus, influenza A virus and cytomegalovirus(CMV). According to the results of pathogen detection, all infants were divided into single detection group of BP(single detection group) and co-detection group of BP combined with viruses(co-detection group). The clinical data of the two groups were retrospectively analyzed and compared to explore the differences of clinical characteristics and its impact on the course of disease.Results:Among 100 cases, there were 54(54.0%) boys and 46(46.0%)girls.The age ranged from 28 days to 2 years and 5 months, with a median age of 3.5 months.Fifty-six cases were classified as single detection group, while 44 cases were included into co-detection group.Among infants in co-detection group, fourteen cases were co-infected with CMV(31.8%, 14/44), seven cases with HRV(15.9%, 7/44), seven cases with PIV(15.9%, 7/44), four cases with RSV(9.1%, 4/44), one case with hMPV(2.2%, 1/44), eight cases with CMV+ HRV(18.2%, 8/44), one case with HRV+ HBoV (2.2%, 1/44), one case with CMV+ PIV(2.2%, 1/44)and one case with CMV+ PIV+ INF-B(2.2%, 1/44). The number of infants in the single detection group who had cyanosis before treatment, requiring repiratory support, PICU admission, severe pneumonia or abnormal myocardial enzymes were higher than those in the co-detection group( P<0.05), while the months of age were lower than that in the co-detection group( P<0.05). When comparing the clinical characteristics of infants over three months of age, only the number of cases of combined cyanosis before treatment and the number of days in hospital were higher in the single detection group than those in the co-detection group ( P<0.05), no statistically significant differences were found in the other clinical characteristics between the two groups( P>0.05). Conclusion:The cases of infants requiring repiratory support, complicated with severe pneumonia or abnormal myocardial enzymes in the single detection group are higher than those in the co-detection group, which may be attributed to the small age of months.
9.The detection and clinical characteristics of respiratory syncytial virus and human rhinovirus in children in eastern Guangdong from 2019 to 2020
Xiaoying CAI ; Guangyu LIN ; Chuangxing LIN ; Junduo CHEN ; Lin KE ; Paizhen CHEN
Chinese Pediatric Emergency Medicine 2023;30(7):515-519
Objective:To analyze the detection rate of respiratory syncytial virus(RSV)and human rhinovirus(HRV), in different months and age groups, and the clinical characteristics in children in eastern Guangdong from 2019 to 2020.Methods:Pharyngeal swabs were collected from 6 658 children with respiratory tract infections hospitalized in the Second Affiliated Hospital of Shantou University Medical College from January 2019 to December 2020, and respiratory pathogen nucleic acid was detected.The detection rate, month distribution, age group distribution, and clinical characteristics of single RSV as well as single HRV positive cases were analyzed and compared.Results:There were 416 single RSV positive cases(6.25%)and 341 single HRV positive cases(5.12%).The detection rates of RSV was higher than those of HRV, and the difference was statistically significant( χ2=7.880, P<0.05).The detection rates of HRV in March, April, November and December were higher than those of RSV, and the detection rates of RSV in July, August and September were higher than those of HRV, with statistically significant difference( P<0.05).The highest detection rate of RSV was in the age group of ≤6 months with a detection rate of 13.47%(192/1 425), which gradually decreased with age, and the difference was statistically significant( P<0.01).The detection rates of HRV fluctuated between 4.21% and 6.13% in each age group, and the differences among the detection rates of each age group were not statistically significant( P>0.05).All RSV-positive cases showed cough, while 77.13%(263/341)of HRV-positive cases showed cough, with a statistically significant difference( P<0.001).The incidence of wheezing in RSV-positive cases was 37.26%(155/416)compared with 28.45%(97/341)in HRV-positive cases, with a higher incidence of wheezing in RSV than that in HRV, and the difference was statistically significant( P<0.05).In terms of indicators to assess severe pneumonia, RSV-positive cases showed a higher proportion of increased respiratory rate, decreased oxygen saturation or dyspnea than HRV-positive cases, and all differences were statistically significant( P<0.05). Conclusion:The detection rate of single RSV is higher than that of single HRV in children with respiratory infections in eastern Guangdong from 2019 to 2020.The epidemic season of RSV is mainly in autumn, and the epidemic season of HRV is mainly in winter and spring.RSV is more susceptible up to 6 months of age, and the detection rate decreases gradually with age, and there is no significant difference in the detection rate of HRV by age.RSV-positive cases are more likely to have cough and wheeze.RSV-positive cases are more likely to have increased respiratory rate, decreased oxygen saturation, or respiratory distress.
10.Analysis of clinical, pathological and genetic features of 3 patients with limb girdle muscular dystrophy type 2A caused by non-canonical splice site mutations in the CAPN3 gene
Guangyu WANG ; Haoyang LIU ; Xiaoqing LYU ; Chuanzhu YAN ; Pengfei LIN
Chinese Journal of Neurology 2023;56(12):1341-1348
Objective:To investigate the clinical, pathological and genetic features of 3 cases of limb-girdle muscular dystrophy 2A (LGMD2A) caused by non-canonical splice site mutations in the CAPN3 gene. Methods:For the 3 LGMD2A patients admitted to Qilu Hospital of Shandong University from July 2016 to July 2018 were selected as the subjects. Clinical data were collected, whole exome sequencing was conducted, and the candidate variants were verified by Sanger sequencing. Total RNA was extracted from the skeletal muscle tissue of 3 probands and effects of splicing mutations on pre-mRNA splicing in the CAPN3 gene were verified by reverse-transcription polymerase chain reaction. Total protein was extracted from the muscle tissue of the probands and expression level of calpain 3 protein was detected by Western blotting. Results:All the 3 probands presented muscle weakness in upper and lower limbs, and muscle weakness in proximal limbs was more severe. Muscle biopsies all indicated myogenic impairment. Genetic sequencing showed proband 1 carried compound heterozygous c.2185-14T>G and c.2305C>T (p.R769W) mutations in the CAPN3 gene, proband 2 carried compound heterozygous c.1193+30G>A and c.2069_2070delAC (p.H690Rfs *9) mutations, and proband 3 carried homozygous c.1194-9A>G mutations in the CAPN3 gene. Splicing assay showed the c.2185-14T>G mutation located in intron 20 induced retention of the entire intron 20, the c.1193+30G>A mutation in intron 9 induced retention of the first 31 nucleotides of intron 9, and the c.1194-9A>G mutation in intron 9 induced retention of the last eight nucleotides of intron 9. Western blotting revealed deficiency of calpain 3 protein in skeletal muscle of proband 1 and proband 2. Conclusions:The clinical manifestation of LGMD2A is muscle weakness predominantly in proximal limbs, and the muscle pathology is mostly characterized by myogenic impairment.Moreover, aberrant splicing of pre-mRNA caused by non-canonical splice site mutations plays a pathogenic role in this disease.

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