1.Pathogens of first-episode pulmonary infection in 141 children with chronic granulomatous disease.
Hui LIU ; Shunying ZHAO ; Haiming YANG ; Jinrong LIU ; Hui XU ; Xiaolei TANG ; Yuelin SHEN ; Xiaoyan ZHANG ; Xiaohui WEN ; Yuhong ZHAO ; Ping CHU ; Huimin LI
Chinese Medical Journal 2024;137(4):502-504
2.Biparametric magnetic resonance imaging radiomics for predicting biochemical recurrence in elderly prostate cancer patients after radical prostatectomy
Wen LIU ; Miao WANG ; Zhengtong LYU ; Huimin HOU ; Miaomiao WANG ; Chunmei LI ; Ming LIU
Chinese Journal of Geriatrics 2024;43(2):180-186
Objective:To investigate the predictive value of a radiomics model based on biparametric magnetic resonance imaging(bpMRI)for biochemical recurrence(BCR)after radical prostatectomy(RP)in elderly prostate cancer patients(≥60 years old).Methods:A retrospective analysis was conducted on data from 175 patients treated at Beijing Hospital from August 2017 to December 2021.Based on pathological results, image segmentation was performed on preoperative bpMRI T2, diffusion weighted imaging(DWI), and apparent diffusion coefficient(ADC)sequences.Pyradiomics was utilized to extract radiomic features, and Cox regression, Spearman correlation coefficient, and LASSO regression were employed for feature dimensionality reduction, leading to the construction of radiomic labels.Clinical models and image-clinical combined models were developed using multifactorial Cox regression analysis, and the performance of these models in predicting BCR was evaluated using the concordance index(C-index).Results:The 175 patients were randomly divided into a training set(122 cases)and a test set(53 cases)at a ratio of 7∶3, with 24 cases(19.7%, 24/122)and 11 cases(20.8%, 11/53)experiencing BCR, respectively.A total of 5 775 radiomic features were extracted from the three sequences, and after dimensionality reduction, 5 features were selected to construct the radiomic labels.The radiomics model exhibited C-index values of 0.764(95% CI: 0.655-0.872)and 0.769(95% CI: 0.632-0.906)in the training and test sets, respectively.Multifactorial Cox regression analysis revealed serum prostate-specific antigen(PSA)( HR=1.032, 95% CI: 1.010-1.054), postoperative pathology International Society of Urological Pathology(ISUP)grade grouping( HR=1.682, 95% CI: 1.039-2.722), and positive surgical margins( HR=2.513, 95% CI: 1.094-5.774)as independent predictors of BCR.The clinical model exhibited C-index values of 0.751(95% CI: 0.655-0.846)and 0.753(95% CI: 0.630-0.877)in the training and test sets, respectively.Following combined modeling of clinical factors and radiomic labels, the image-clinical combined model demonstrated the highest C-index values, namely 0.782(95% CI: 0.679-0.874)and 0.801(95% CI: 0.677-0.915)in the training and test sets, respectively. Conclusions:The radiomics model based on bpMRI can predict the occurrence of BCR after RP in elderly prostate cancer patients.Combined modeling of clinical factors and radiomic labels can enhance predictive efficiency.
3.Association between regional white matter hyperintensity burden and cognitive impairment in Parkinson′s disease patients
Huimin CHEN ; Wen SU ; Meimei ZHANG ; Tao FENG ; Yilong WANG
Chinese Journal of Neurology 2024;57(2):157-163
Objective:To investigate the association between regional white matter hyperintensity (WMH) volumes and cognitive impairment in Parkinson′s disease (PD) patients.Methods:The consecutive samples of PD cohort between October 2018 and August 2019 from the Department of Movement Disorders, Beijing Tiantan Hospital, Capital Medical University were retrospectively analyzed. Demographic and disease profiles, three-dimensional brain magnetic resonance imaging data were collected. Cognition was evaluated by Mini-Mental State Examination (MMSE), and mood was evaluated by Hamilton Anxiety Scale and Hamilton Depression Scale (HAMD). According to the MMSE score, patients were divided into PD with dementia group and PD without dementia group. WMH volume was automatically calculated using unidentified bright objects detector pipeline based on anatomical autonomic labeling atlas. Firstly, demographic and disease profiles, and WMH total volume were compared between groups with and without dementia. Then, partial correlation analysis [false discovery rate (FDR) corrected] and principal component (PC) regression analysis were used to assess the association between regional WMH volumes and the MMSE score.Results:Compared with PD without dementia group, PD with dementia group showed significantly higher WMH volume [5 125 (2 727, 13 718) mm 3vs 3 214 (1 959, 7 205) mm 3, Z=-2.256, P=0.024]. After adjusting for age, low density lipoprotein, cholesterol, and HAMD score, partial correlation analysis (FDR corrected) showed that WMH volumes in the right calcarine ( r=-0.204, PFDR-corrected=0.034), the right fusiform ( r=-0.180, PFDR-corrected=0.046), the right lingual ( r=-0.146, PFDR-corrected=0.047), the left middle temporal ( r=-0.168, PFDR-corrected=0.047), the left inferior parietal lobes ( r=-0.145, PFDR-corrected=0.047) and the right inferior parietal lobes ( r=-0.148, PFDR-corrected=0.047) were significantly associated with MMSE score. PC regression analysis demonstrated that MMSE score was significantly associated with PC2 ( B=-0.632, 95% CI -1.222--0.041, P=0.036), PC13 ( B=-1.384, 95% CI -2.155--0.613, P=0.001), and PC14 ( B=-0.913, 95% CI -1.599--0.227, P=0.009); PC2, PC13 and PC14 were mainly composed of temporo-parieto-occipital WMHs in the posterior brain, and the related WMH components accounted for 9.668% of WMH variance. Conclusions:The posterior WMH burden may be associated with cognitive impairment in PD patients. However, WMH burden may not be the main contributor to cognitive impairment in PD patients.
4.Association between congenital hypothyroidism and in-hospital adverse outcomes in very low birth weight infants
Sha ZHU ; Jing XU ; Ranran SHI ; Xiaokang WANG ; Maomao SUN ; Shina LI ; Lingling GAO ; Yuanyuan LI ; Huimin WEN ; Changliang ZHAO ; Shuai LI ; Juan JI ; Cuihong YANG ; Yonghui YU
Chinese Journal of Pediatrics 2024;62(1):29-35
Objective:To investigate the association between congenital hypothyroidism (CH) and the adverse outcomes during hospitalization in very low birth weight infants (VLBWI).Methods:This prospective, multicenter observational cohort study was conducted based on the data from the Sino-northern Neonatal Network (SNN). Data of 5 818 VLBWI with birth weight <1 500 g and gestational age between 24-<37 weeks that were admitted to the 37 neonatal intensive care units from January 1 st, 2019 to December 31 st, 2022 were collected and analyzed. Thyroid function was first screened at 7 to 10 days after birth, followed by weekly tests within the first 4 weeks, and retested at 36 weeks of corrected gestational age or before discharge. The VLBWI were assigned to the CH group or non-CH group. Chi-square test, Fisher exact probability method, Wilcoxon rank sum test, univariate and multivariate Logistic regression were used to analyze the relationship between CH and poor prognosis during hospitalization in VLBWI. Results:A total of 5 818 eligible VLBWI were enrolled, with 2 982 (51.3%) males and the gestational age of 30 (29, 31) weeks. The incidence of CH was 5.5% (319 VLBWI). Among the CH group, only 121 VLBWI (37.9%) were diagnosed at the first screening. Univariate Logistic regression analysis showed that CH was associated with increased incidence of extrauterine growth retardation (EUGR) ( OR=1.31(1.04-1.64), P<0.05) and retinopathy of prematurity (ROP) of stage Ⅲ and above ( OR=1.74(1.11-2.75), P<0.05). However, multivariate Logistic regression analysis showed no significant correlation between CH and EUGR, moderate to severe bronchopulmonary dysplasia, grade Ⅲ to Ⅳ intraventricular hemorrhage, neonatal necrotizing enterocolitis in stage Ⅱ or above, and ROP in stage Ⅲ or above ( OR=1.04 (0.81-1.33), 0.79 (0.54-1.15), 1.15 (0.58-2.26), 1.43 (0.81-2.53), 1.12 (0.70-1.80), all P>0.05). Conclusion:There is no significant correlation between CH and in-hospital adverse outcomes, possibly due to timely diagnosis and active replacement therapy.
5.Clinical phenotyping of severe Mycoplasma pneumoniae pneumonia in children
Heng WANG ; Weihan XU ; Jinrong LIU ; Yun PENG ; Xiaoxia PENG ; Xiaohui WEN ; Xiaolei TANG ; Hui XU ; Hui LIU ; Yuelin SHEN ; Xiaoyan ZHANG ; Haiming YANG ; Yaguang PENG ; Huimin LI ; Shunying ZHAO
Chinese Journal of Pediatrics 2024;62(7):669-675
Objective:To investigate and summarize pediatric patients with severe Mycoplasma pneumoniae pneumonia (MPP) presenting with varied clinical and chest imaging features in order to guide the individualized treatment. Methods:This was a retrospective cohort study. Medical records of clinical, imaging and laboratory data of 505 patients with MPP who were admitted to the Department Ⅱ of Respirology Center, Beijing Children′s Hospital, Capital Medical University from January 2016 to October 2023 and met the enrollment criteria were included. They were divided into severe group and non-severe group according to whether lower airway obliterans was developed. The clinical and chest imaging features of the two groups were analyzed. Those severe cases with single lobe ≥2/3 consolidation (lobar consolidation) were further divided into subtype lung-necrosis and subtype non-lung-necrosis based on whether lung necrosis was developed. Comparison on the clinical manifestations, bronchoscopic findings, whole blood C-reactive protein (CRP) and other inflammatory indicators between the two subtypes was performed. Comparisons between two groups were achieved using independent-sample t-test, nonparametric test or chi-square test. Univariate receiver operating characteristic (ROC) curve analyses were performed on the indicators such as CRP of the two subtypes. Results:Of the 505 cases, 254 were male and 251 were female. The age of the onset was (8.2±2.9) years. There were 233 severe cases, among whom 206 were with lobar consolidation and 27 with diffuse bronchiolitis. The other 272 belonged to non-severe cases, with patchy, cloudy infiltrations or single lobe <2/3 uneven consolidation or localized bronchiolitis. Of the 206 cases (88.4%) severe cases with lobar consolidation, 88 harbored subtype lung-necrosis and 118 harbored subtype non-lung-necrosis. All 206 cases (100.0%) presented with persistent high fever, among whom 203 cases (98.5%) presented with inflammatory secretion obstruction and plastic bronchitis under bronchoscopy. Of those 88 cases with subtype lung-necrosis, there were 42 cases (47.7%) with dyspnea and 39 cases (44.3%) with moderate to massive amount of pleural effusion. There were 35 cases (39.8%) diagnosed with lung embolism during the disease course, of which other 34 cases (38.6%) were highly suspected. Extensive airway mucosal necrosis was observed in 46 cases (52.3%), and the level of their whole blood CRP was significantly higher than that of subtype non-lung-necrosis (131.5 (91.0, 180.0) vs. 25.5 (12.0, 43.1) mg/L, U=334.00, P<0.001). They were regarded as subtype "lung consolidation-atelectasis-necrosis". Of those 118 cases with subtype non-lung-necrosis, 27 cases (22.9%) presented with dyspnea and none were with moderate to massive amount of pleural effusion. Sixty-five cases (55.1%) presented with plastic bronchitis and localized airway mucosal necrosis was observed in 32 cases (27.1%). They were deemed as subtype "lung consolidation-atelectasis". ROC curve analyses revealed that whole blood CRP of 67.5 mg/L on the 6-10 th day of disease course exhibited a sensitivity of 0.96, a specificity of 0.89, and an area under the curve of 0.97 for distinguishing between these two subtypes among those with lobar consolidation. Conclusions:Pediatric patients with severe MPP present with lobar consolidation or diffuse bronchiolitis on chest imaging. Those with lobar consolidation harbor 2 subtypes as "lung consolidation-atelectasis-necrosis" and "lung consolidation-atelectasis". Whole blood CRP of 67.5 mg/L can be applied as an early discriminating indicator to discriminate between these two subtypes.
6.Value of a combined ultrasound imaging radiomics model to predict progression-free survival in endocrine therapy for prostate cancer
Heyang LIU ; Qian LIU ; Hua HONG ; Diansheng JIN ; Huimin GAO ; Senlin BAO ; Wen LI
Chinese Journal of Ultrasonography 2024;33(11):992-999
Objective:To investigate the value of the combined ultrasound imaging radiomics model for predicting progression-free survival in endocrine therapy for prostate cancer.Methods:A total of 283 prostate cancer patients who received endocrine treatment at the Inner Mongolia Autonomous Region People′s Hospital and the First Hospital of Hohhot from July 2018 to January 2023 were retrospectively collected, of which 198 patients from the Inner Mongolia Autonomous Region People′s Hospital were randomly divided into the training set and the validation set according to the ratio of 7∶3, and 85 patients from the First Hospital of Hohhot served as an independent external test set. They were classified into a progression group and a non-progression group based on whether the patients progressed to desmoplasia-resistant prostate cancer 18 months after the start of endocrine treatment.Based on the two-dimensional ultrasound images, the imaging radiomics features were extracted and the imaging radiomics score (Rad-score) were constructed, the immunopathology and other clinical data were analysed, and three prediction models were constructed using logistic regression: the clinical model, the ultrasonography model, and the ultrasonography-clinical combined model, respectively. The predictive efficacy and clinical utility of the models were assessed by the ROC curves and clinical decision curves.Results:Five ultrasonographic features were included in the ultrasound model; the prostate-specific antigen nadir, the neutrophil-to-lymphocyte ratio before treatment, and the expression level of tumour proliferating cell nuclear antigen 67 (Ki-67) were incorporated into the clinical model; and the Rad score computed from the output of the ultrasound model for the screening features, together with the prostate-specific antigen nadir (PSA nadir), the neutrophil to lymphocyte ratio (NLR) before treatment, and the expression level of Ki-67 were used to construct the ultrasound-clinical joint model. The joint model achieved the highest predictive performance in both the training and validation sets of the three groups of models, with the area under the curve of 0.85 and 0.84, and the clinical decision curve showed good clinical benefit.Conclusions:The combined ultrasound-clinical model constructed in this study based on two-dimensional ultrasound images of prostate cancer before endocrine therapy can predict progression-free survival of endocrine therapy for prostate cancer more accurately.
7.Clinical and genetic analysis of a child with West syndrome due to a de novo variant of NEXMIF gene
Wen HE ; Yan LIANG ; Huimin YAN ; Lin WAN ; Guang YANG
Chinese Journal of Medical Genetics 2024;41(6):725-729
Objective:To investigate the clinical features and genetic variant of a child with West syndrome due to a variant of NEXMIF gene. Methods:A child who was admitted to Department of Pediatrics, the First Medical Center of Chinese PLA General Hospital in March 2021 was selected as the study subject. Clinical data of the patient was collected. The child and his parents were subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing and pathogenicity analysis.Results:The child, a 4-month-old boy, had presented with spastic seizures with no obvious cause. Abnormal EEG, severe hypsarrhythmia, and multiple spastic seizures were discovered. Cranial MRI revealed widening of the extracerebral space at the top of the frontal lobe. Physical examination revealed that he could not hold his head up, and could not respond to sounds or follow objects with eyes. He also has microcephaly, with height < 1 s. The child was diagnosed with West syndrome at a local hospital, and given prednisone orally for 3 months, with seizures under control. Topiramate tablets were taken orally for maintenance treatment, and he has been seizure-free for 7 months. DNA sequencing revealed that he has harbored a de novo nonsense variant of c. 982_c.983delTT (p.L328Dfs*23) in the NEXMIF gene. Conclusion:For children with West syndrome with severe developmental delay or even regression as the first symptoms, uncontrollable seizures and abnormal facial appearance, mutations in the NEXMIF gene should be suspected, and genetic testing can facilitate early diagnosis and treatment.
8.Current situation and influencing factors of intrinsic capacity of elderly people in the community
Xue LIU ; Shuqin XIAO ; Lingyun WANG ; Huimin WEN ; Xian MA ; Hongsai ZHANG ; Luqi DONG
Chinese Journal of Modern Nursing 2024;30(7):885-892
Objective:To explore the current situation of the intrinsic capacity of elderly people in the community and analyze its influencing factors.Methods:From September 2022 to March 2023, convenience sampling was used to select 360 elderly community residents from Xicheng District, Beijing, and Xingtai City, Hebei Province, as the research subjects. The subjects were surveyed using the Intrinsic Capacity Assessment Questionnaire, Intrinsic Capacity Influencing Factors Questionnaire, Barthel Index, and Lawton Instrumental Activities of Daily Living Scale.Results:A total of 360 questionnaires were distributed, and 360 valid questionnaires were collected, with an effective response rate of 100.0% (360/360). The overall impairment rate of intrinsic capacity among 360 elderly people in the community was 90.3% (325/360), and the impairment rates in various fields from high to low were sensation, psychology, vitality, cognition, and exercise. Multiple linear regression analysis showed that age, gender, residential pattern, education level, work status, grip strength, number of geriatric syndrome, self-rated health status, adverse life events, number of social activities, transportation conditions, and social security were the influencing factors of the intrinsic capacity of elderly people in the community, and the difference was statistically significant ( P<0.05) . Conclusions:The impairment rate of intrinsic capacity among elderly people in the community is relatively high. Grassroots medical and nursing staff should assess the intrinsic capacity of elderly people in the community in health promotion work, identify elderly people with decreased intrinsic capacity early and carry out effective interventions to prevent elderly people from becoming disabled and dependent on care.
9.Genetic analysis of a gonadal-mosaicism BMD family with prenatal diagnosis and PGT-M
Wenmei XIE ; Yanling TENG ; Hongyun ZHANG ; Huimin ZHU ; Wen ZHANG ; Desheng LIANG ; Zhuo LI ; Lingqian WU
Chinese Journal of Laboratory Medicine 2023;46(5):510-517
Objective:To identify the pathogenic characteristics of a suspected gonadal mosaicism Becker muscular dystrophy (BMD) family, and provide provide basis for pregnancy selection of similar families.Methods:A BMD family admitted to Hunan Jiahui Genetics Hospital from June 2012 to September 2019 was systematically reviewed. The medical history and family history of the proband were checked, and multiplex ligation-dependent probe amplification was used to detect the deletion/duplication of 79 exons of the Duchenne muscular dystrophy (DMD) gene in the proband, fetuses, and parents. Moreover, potential variants were verified by combining PCR amplification, short tandom repeat polymorphic linkage analysis, and real-time fluorescence quantitative PCR. High-quality embryos are screened for transplantation after preimplantation genetic testing for monogenic (PGT-M). And amniotic fluid was collected in the second trimester for prenatal diagnostic verification.Results:According to the phenotype analysis of the proband, the initial clinical diagnosis was BMD, and the exon 45-50 deletion in DMD gene was detected. The mutation was not detected in the mother′s peripheral blood, but when she was pregnant again, the prenatal diagnosis showed that the fetus had the same deletion mutation as the proband. Neither of two vitro embryos tested by PGT-M has the deletion mutation, then single embryo transfer was performed nor was pregnancy successful. After confirmation of prenatal diagnosis during pregnancy, a normal baby girl was born by full-term cesarean section.Conclusions:This BMD family was a family with two consecutive BMD homodeletion mutations, and the mutation of the DMD gene was not detected in the peripheral blood of the proband′s mother and two embryonic cells, suggesting that the mother may be a gonad chimeric carrier of this deletion mutation. The combined application of prenatal diagnosis and PGT-M provides a reference approach to effectively avoid the birth of similar children.
10.Comparative analysis of disease burden in Sichuan Province in 2010 and 2020 based on disability-adjusted life years
Xiaoyan WEN ; Huimin GUO ; Wenlan JIANG ; Li CHEN
Shanghai Journal of Preventive Medicine 2023;35(8):804-809
ObjectiveTo analyze the disease burden in Sichuan Province in 2010 and 2020, and to provide reference for disease prevention and control. MethodsMonitoring data on causes of death in Sichuan Province in 2010 and 2020 were collected. Disability-adjusted life years (DALY), years of life lost (YLL) and years lived with disability (YLD) were calculated to assess the disease burden in Sichuan Province. ResultsIn 2020, DALY was 7.004 0 million years, among which YLL and YLD were 3.719 6 million and 3.284 4 million, respectively. Compared with 2010, the total DALY in 2020 increased by 8.27%, most of which came from the increase of YLL (16.66%). In 2020, the standardized total DALY rate was 69.91‰, which decreased by 9.87% compared with 2010. Specifically, the rate decreased by 15.87% for females and 5.28% for males. In 2020, the burden of DALY disease in the elderly over 60 years old increased by 34.55% compared with 2010. The burden of infectious and maternal diseases decreased the most, and the standardized DALY rates of male and female in 2020 decreased by 47.03% and 55.50% compared with 2010, respectively. Injury was the next most important factor, which decreased by 32.97% in males and 26.92% in females. The standardized DALY rate of chronic diseases increased by 5.41% in males and decreased by 10.67% in females. In 2020, compared with 2010, the standardized DALY rate of males increased significantly in diabetes (82.02%), nervous system and mental disorders (26.31%), and cardiovascular and cerebrovascular diseases (19.86%). Among women, significant increases were seen in diabetes mellitus (54.74%), neurological and mental disorders (35.52%), and musculoskeletal and connective tissue diseases (23.51%). ConclusionThe overall disease burden in Sichuan Province shows a declining trend, mainly attributed to the decrease in infectious and maternal diseases and injuries. The disease burden among people over 60 years old has increased significantly, with the focus on chronic diseases such as diabetes, cardiovascular and cerebrovascular diseases, nervous system and mental disorders, and musculoskeletal and connective tissue diseases.

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