OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

Objective To investigate the epidemiological characteristics of lymphoma mortality and potential years of life lost among Wuhan residents, and to provide a scientific basis for the prevention and control of lymphoma. Methods Data on lymphoma deaths among residents in Wuhan from 2010 to 2019 were collected from the population-based Wuhan Mortality Surveillance System. Joinpoint regression model was used to evaluate the trends in age-standardized mortality rates and potential years of life lost due to lymphoma among the residents of different ages and genders. Potential years of life lost rate was used to assess the disease burden. Results There were 4 055 deaths (2481in male and 1 574 in female) from major kidney diseases in Wuhan residents between 2010 to 2019, with an age-standardized mortality rate of 5.11/100 000. The mortality rate of major kidney diseases showed an upward trend with increasing age. Between 2010 and 2019, the age-standardized mortality rates of the multiple myeloma and non-Hodgkin lymphoma were significantly increased (APC=6.924%, APC=1.407%, P＜0.05), and the potential years of life lost rate of non-Hodgkin lymphoma in female were significantly increased (APC=7.935%，P＜0.05). Conclusion From 2010 to 2019, the mortality rate of lymphoma among residents of Wuhan City shows an upward trend, especially for multiple myeloma and non-Hodgkin lymphoma. The disease burden of multiple myeloma shows an increasing trend in the female population, suggesting the need to take corresponding preventive and control measures.

Objective To analyze the impact of digital conversion of screen-film chest radiographs on image quality in patients with pneumoconiosis. Methods Ten high-kilovoltage screen-film chest radiographs from pneumoconiosis patients were digitally converted using three devices, including a digital single-lens reflex camera, a smartphone, and a medical film scanner. The image quality and optical density values before and after image adjustment were compared across different image formats. Results Before adjustment, among the 30 JPEG images, 24 had diagnostic defect areas and 26 had unqualified optical density values. In RAW format, optical density values were not qualified in 18 out of 30 images. In DICOM format, optical density values were not qualified in nine of ten images. After adjustment, optical density values were not qualified in 13 JPEG images, 12 RAW images, and one DICOM image. Comparisons of chest radiograph quality grade distributions before and after adjustment showed significant differences for all three image formats (all P<0.05). Conclusion After being digitally converted by taking images in RAW format with digital photographic equipment and undergoing post-processing adjustment, the quality of screen-film chest radiographs for pneumoconiosis can meet the diagnostic requirements.

Objective:To explore the safety and efficacy of transesophageal echocardiography(TEE)-guided percutaneous patent foramen ovale(PFO)closure in treating migraine.Methods:A total of 78 patients with migraine who underwent TEE-guided percutaneous PFO closure at The Third Hospital of Mianyang between March 2021 and August 2023 were included in the study.The impact of headache on daily life was assessed using the Headache Impact Test(HIT-6)score.Preoperatively conventional examination included TEE,right heart acoustic imaging,and contrast transcranial Doppler(c-TCD)were conducted to assess the situation of foramen ovale and right-to-left shunt(RLS).PFO closure was completed under TEE monitoring in surgery,and TEE examination was immediately implemented after surgery so as to evaluate the effect of closure.The transthoracic TTE,right heart acoustic imaging and c-TCD were adopted to conduct follow-up for the form and position of occluder,and the situation of residual shunt at the 1st,3rd and 6th month after surgery.HIT-6 score was used to assess whether the headache of patients was improved.Results:Transesophageal echocardiography(TEE)-guided PFO closure was successfully performed in 75 patients(success rate was 96%),while 3 cases was failure in closure.There was not major surgical complications in all patients.During follow-up,TTE demonstrated the position and form of occluder were well,and there was not pericardial effusion.The results of right heart acoustic imaging and c-TCD showed the RLS obviously reduced or even disappeared after closure.HIT-6 scores showed the number of patients,whose scores were less than 50 scores,increased at the 1st,3rd and 6th after closure,which were respectively 44 cases,49 cases and 64 cases,and the differences of them were significant(x2=49.912,82.041,96.189,P＜0.05).Conclusion:The single TEE-guided percutaneous PFO closure is safe,which short-term outcomes is favorable for migraine.This technique is worth in clinical application.

Objective:To observe the characteristics of multi-muscle surface electromyography (sEMG) network indices during static standing among hemiplegic stroke survivors, and to evaluate the value of the indices in assessing neuromuscular dysfunction.Methods:Ten male stroke survivors with hemiplegia were recruited into the hemiplegia group, and 10 age-matched healthy males were chosen as the control group. Both groups were required to perform 30s static standing tasks with their eyes open and closed. The sEMG signals from the bilateral gluteus maximus (GM), rectus femoris (RF) and biceps femoris (BF) muscles were synchronously collected. Linear time-frequency domain indices were then calculated from the sEMG signals, including the root mean square (RMS) and median frequency (MF). Network indices were extracted from the multiplex recurrence network and weighted networks were constructed from the sEMG signals, including the average interlayer mutual information (I), average edge overlap (ω), clustering coefficient (C), average shortest path length (L) and degree of centrality (DC).Results:With the eyes closed, the RMS values of the bilateral GMs of the hemiplegia group, as well as the values for the RF and BF on the unaffected side were significantly higher than the control group′s values. In the hemiplegia group, the RMS values of the RF and BF muscles on the unaffected side were significantly higher than on the affected side during standing with the eyes closed. For the RF muscles the RMS values on the unaffected side were, on average, significantly higher than with the eyes open. The MF of the GM muscles on the unaffected side in the hemiplegia group was significantly lower than the average MF values of the bilateral GM muscles in the control group with the eyes open or closed. With the eyes closed, the MF of the unaffected-side GM was significantly lower than that of the affected-side GM in the hemiplegia group. Compared with the control group, the hemiplegia group showed a significant increase in I and ω values, but a significant decrease in L values with the eyes open or closed. The DC values of the bilateral GM, RF and BF muscles in the hemiplegia group were significantly higher than among the control group with the eyes open, which was also true of the bilateral GM and RF muscles with the eyes closed. With the BF muscles it was true only of the unaffected side. In the hemiplegia group, the DC values of the unaffected-side GM with the eyes open or closed, and of the unaffected-side BF with the eyes closed.Conclusions:When standing still, hemiplegic stroke survivors exhibit increased overall synchronous muscle adjustment with involvement of unaffected-side muscles, especially the GM. sEMG network indices such as I, ω, L and DC can assess multi-muscle synchronous adaptability and the involvement of single muscles. sEMG network algorithms thus have potential as a new method for localizing and quantitatively assessing neuromuscular dysfunction among such patients.

Objective:This study evaluates the horizontal sound localization ability of young and middle-aged individuals with symmetric sensorineural hearing loss (SNHL) in noisy environments. It also examines the impact of hearing loss severity and signal-to-noise ratio (SNR) on localization accuracy.Methods:In this cross-sectional study, conducted from April 2023 to April 2024, 135 young and middle-aged patients (73 males and 62 females, aged 18-60 years) with SNHL who sought care at Beijing Chaoyang Hospital, were categorized into mild, moderate, and moderate-to-severe hearing loss groups (45 per group), with 45 normal-hearing controls (23 males and 22 females, aged 20-60 years). Participants completed localization tasks in quiet and noisy environments with SNR levels of 5 dB, 0 dB, -5 dB, and-10 dB. Root mean square error (RMSE) was used to measure localization accuracy. Repeated measures ANOVA assessed the effects of hearing loss and SNR on RMSE, while, Pearson correlation evaluated the relationship between binaural 4-frequency pure-tone average (4fPTA) and RMSE. Multiple linear regression analyzed the predictive role of 4fPTA and age.Results:(1) Two-way repeated measures ANOVA showed that both hearing loss severity and SNR significantly affected RMSE ( F=92.67, P<0.01; F=430.29, P<0.01), with a significant interaction between the two factors( F=92.67, P<0.01). (2) RMSE increased with hearing loss severity. At SNRs of 5 dB, 0 dB, and-5 dB, the moderate-to-severe group had significantly higher RMSE than the mild and moderate groups ( P<0.01). No significant differences were found between mild and moderate groups ( P=0.53, 0.57, 0.22). At-10 dB SNR, significant differences were observed across all groups ( P<0.01). (3) RMSE increased non-linearly as SNR decreased. Mean RMSE values under quiet conditions and at SNRs of 5 dB, 0 dB, -5 dB, and-10 dB were (7.43±5.01)°, (9.80±5.74)°, (11.60±6.22)°, (14.56±7.07)°, and (18.74±8.02)°, respectively. (4) RMSE was significantly positively correlated with binaural 4fPTA ( r=0.54-0.58, P<0.01). Multiple linear regression analysis indicated that the binaural average 4fPTA significantly predicted RMSE ( P<0.01), explaining 30.5%-34.1% of RMSE variance. Age did not significantly contribute to RMSE variation. Conclusions:The degree of hearing loss and background noise SNR significantly affect horizontal sound localization in young and middle-aged SNHL patients. RMSE increases with hearing loss severity and decreases with higher SNR. The interaction between hearing loss and SNR is significant, and RMSE correlates with binaural 4fPTA. However, the regression model based on 4fPTA and age explains only part of the RMSE variance, suggesting other contributing factors.

Objective:To analyze the epidemiological and clinical characteristics of pertussis cases identified through active surveillance.Methods:Active surveillance for pertussis was conducted in three sentinel hospitals in Yiwu, Zhejiang Province, and Yongcheng, Henan Province. The study population included cases that met the surveillance case definition and sought medical care at outpatient/emergency departments or were hospitalized between June 1, 2021, and May 31, 2022. Samples were collected for bacterial culture and PCR detection. Case information and clinical data were collected. Differences in rates were assessed using the chi-square test or Fisher's exact probability test, and the differences in cough time were compared using the Mann-Whitney U test. Results:Among 1 423 cases of pertussis surveillance, the positive rate of pertussis was 28.11% (400/1 423), with a median age of 5 years (interquartile range: 2, 8). The positive rate in Yongcheng, Henan Province, and Yiwu, Zhejiang Province were 39.27% (216/550) and 21.08% (184/873), respectively; the positive rate of pertussis was highest in July 2021, and the highest positive rate of pertussis was among those aged 10-14. The positive rate of pertussis in hospitalized cases was higher than in outpatient/emergency cases (26.68%) ( χ2=4.16, P=0.041). Among the 400 laboratory test-positive cases, the highest proportion of atypical symptom cases was in adults aged 20-59 (43.33%, 13/30). The specificity rates of apnea and worsening nocturnal cough in monitored cases under 3 months of age were 100.00% and 73.81%, respectively. Among monitored cases aged 3 months to 9 years, the proportions of symptoms including worsening nighttime cough (63.00%) and night sweats (4.59%) in test-positive cases were significantly higher than those in the test-negative group (47.77% and 0.56%, respectively), with statistically significant differences (both P<0.05). The specificity rates of worsened nighttime coughing and night sweats were 52.23% and 99.44%, respectively. Conclusions:The active surveillance results for pertussis showed that the 10-14 age group exhibited the highest positivity rate. Active surveillance enhanced the detection rate of pertussis. Among laboratory-confirmed cases, the proportion of atypical symptoms was the highest in adults, suggesting that laboratory testing should be combined to diagnose programs of pertussis. For infants under 3 months, worsening nighttime cough and apnea increase the diagnostic specificity, while for individuals aged 3 to 9 years old, worsening nighttime cough and night sweats increase the diagnostic specificity.

Objective:To investigate the early predictive value of ECG PR interval for the risk of coronary heart disease(CHD) in patients with T2DM.Methods:A total of 7 886 participants from Guiyang who enrolled in the REACTION study between May and August 2011 were included. Baseline data were collected, and participants were followed for 10 years to monitor the occurrence of CHD. Logistic regression was used to identify risk factors for CHD, and a Cox proportional hazards model was employed to assess the predictive value of the PR interval for CHD incidence. Results:Over 10 years of follow-up, the overall incidence of CHD was 4.22%(245/5 812). The incidence was significantly higher in the T2DM group(7.57%, 96/1 268) than in the non-T2DM(3.28%, 149/4 544), and the shortened PR group(3.19%, 36/1 130; all P<0.05). Multiple logistic regression analysis identified both T2DM and prolonged PR interval as significant risk factors for CHD, with HR(95% CI) of 1.98(1.64-2.42) and 1.07(1.04-1.10), respectively(both P<0.01). The Cox proportional hazards model further revealed that the risk of CHD was significantly higher in the prolonged PR group than in the normal PR group, with an HR of 2.82(95% CI 2.34-3.12, P<0.01). Subgroup analysis showed that the risk of CHD was elevated in the non-T2DM with prolonged PR group, T2DM with normal PR group, and T2DM with prolonged PR group compared to the non-T2DM with normal PR group, with HRs(95% CI) of 1.43(1.14-1.82), 2.16(1.78-2.56), and 5.24(3.12-7.94), respectively. A significant interaction was observed between T2DM status and PR prolongation in predicting CHD risk(all P<0.01). Conclusions:Both T2DM and prolonged PR interval are independent risk factors for 10-year CHD incidence. Moreover, an interaction exists between T2DM and prolonged PR interval in predicting CHD risk. The PR interval may serve as an early predictor of CHD risk in patients with T2DM.

Objective:To investigate the clinical manifestations, therapeutic strategies and prognostic outcomes in pediatric patients with severe Mycoplasma pneumoniae pneumonia (SMPP) complicated by cardiac thrombosis. Methods:This case series study retrospectively analyzed 15 pediatric patients with SMPP complicated by cardiac thrombosis. The patients was recruited from the Department of Pediatric Respiratory Medicine at Shandong Provincial Hospital Affiliated to Shandong First Medical University between July 2018 and January 2025. Comprehensive clinical data and follow-up information were collected.Results:Among the 15 children, 10 were male and 5 were female, and the age of onset was 8.0 (6.3, 10.0) years. All 15 children presented with fever and cough, while additional symptoms included dyspnea in 7 cases, chest pain in 6 cases, hemoptysis in 3 cases, and chest tightness in 1 case. The white blood cell count was 11.7 (9.5, 15.9)×10 9/L, C-reactive protein was 31.6 (17.5, 64.8) mg/L and lactate dehydrogenase was 548.2 (410.4, 768.3) U/L. A total of 14 children underwent testing for the Mycoplasma pneumoniae drug resistance genes 2063A>G and 2064A>G, of which 13 tested positive. The plasma D-dimer levels of 15 children were 8.77 (7.23, 12.50) mg/L, all of which were higher than normal. Among the 15 children, 5 had decreased activity of anticoagulant proteins (protein C, protein S, antithrombin Ⅲ), and 8 tested positive for antiphospholipid antibodies. Chest CT scans of all 15 children showed pulmonary consolidation and (or) atelectasis, with pleural effusion present in 12 cases. In the 15 children, thrombosis was detected at 14.0 (11.0, 18.0) days after the onset of illness. The locations of cardiac thrombosis included the right ventricle in 9 cases, the right atrium in 5 cases, and the left atrium in 1 case. Additionally, 10 cases had pulmonary vascular embolism, comprising 9 cases of pulmonary artery thrombosis and 1 case of pulmonary vein thrombosis. After anticoagulant treatment, cardiac thrombi disappeared in 10 children. Five children who did not show improvement with anticoagulation underwent surgical thrombectomy. In the follow-up of 15 children, lung imaging basically returned to normal, with no major hemorrhagic events or other adverse events. Conclusions:In children with Mycoplasma pneumoniae pneumonia, the presence of clinical symptoms such as shortness of breath, chest pain and hemoptysis, along with elevated plasma D-dimer levels, should raise suspicion for the possibility of cardiac thrombosis. SMPP complicated by cardiac thrombosis, prognosis is good following anticoagulation or surgical treatment.

ObjectiveTo characterize the seasonal patterns of influenza in Kunming City, Yunnan Province before, during, and after the COVID-19 pandemic, and provide scientific evidence for optimizing influenza prevention and control strategies. MethodsInfluenza-like illness (ILI) and etiological surveillance data for influenza from the 14^th week of 2010 to the 13^th week of 2024 in Kunming City of Yunnan Province were collected. Harmonic regression models were constructed to analyze the epidemic characteristics and seasonal patterns of influenza before (2010/2011‒2019/2020 influenza seasons), during (2020/2021‒2022/2023 influenza seasons), and after (2023/2024 influenza season) the COVID-19 pandemic. ResultsBefore the COVID-19 pandemic, influenza in Kunming City mainly exhibited an annual cyclic pattern without a significant semi-annual periodicity, peaking from December to February of the next year, with an epidemic duration of 20‒30 weeks. During the pandemic, influenza seasonality shifted, with an increase in semi-annual periodicity and an approximate one month delay in annual peaks. However, after the pandemic, the annual amplitude of influenza increased compared with that before the pandemic, and the epidemic duration extended by about one month. Although the annual peak largely reverted to the pre-pandemic levels, the annual peaks for different influenza subtypes/lineages had not fully recovered. ConclusionInfluenza seasonality in Kunming City underwent substantial alterations following the COVID-19 pandemic and has not yet fully reverted to pre-pandemic levels. Continuous surveillance on different subtypes/lineages of influenza viruses remains essential, and prevention and control strategies should be adjusted and optimized in a timely manner based on current epidemic trends.