1.Clinical and genetic analysis of children with Silver-Russell syndrome.
Liming ZHANG ; Guimei PAN ; Dongxia FU ; Xue WU ; Yongxing CHEN
Chinese Journal of Medical Genetics 2026;43(4):259-264
OBJECTIVE:
To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease.
METHODS:
A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025.
RESULTS:
The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene.
CONCLUSION
SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans
;
Silver-Russell Syndrome/diagnosis*
;
Male
;
Female
;
Child
;
Child, Preschool
;
Infant
;
Adolescent
;
Retrospective Studies
2.Analysis of oral health status and knowledge, attitude and practice intervention effects among third grade primary school students in Guizhou Province
Chinese Journal of School Health 2026;47(7):945-949
Objective:
To evaluate oral health status and knowledge, attitude and practice (KAP) among third grade primary school students after the implementation of the Comprehensive Intervention Project for Childhood Oral Diseases in Guizhou Province, so as to provide evidence for program optimization.
Methods:
Using a multistage cluster sampling method, oral examinations and questionnaire surveys were conducted among third grade primary school students in schools covered by the Comprehensive Intervention Project for Childhood Oral Diseases in Guizhou Province (intervention group, n =1 030) and schools not covered by the program (control group, n =1 130) in November 2023. A follow up survey was conducted one year after the project s implementation (December 2024) to evaluate the differences in oral health status and KAP between the two groups. The t-test and χ 2 test were used to compare means and rates, respectively.
Results:
One year after implementation, the permanent caries prevalence, caries filling ratio, mean dmft/DMFT, and mean simplified debris index in the intervention group were 33.3%, 22.3 %, 3.44±3.10, 0.77±0.56, which were all better than those in the control group (39.8%, 17.3%, 3.89±2.85, and 0.87± 0.63 ) ( χ 2/ t =9.87, 8.78, -2.59, -3.91,all P <0.05). After intervention, the levels of oral health knowledge, attitude and behaviors in the intervention group were better than those in the control group ( Z =7.69, 2.35, 2.10, all P <0.05). Except for the item "fluoride has no protective effect on teeth", the correct response rates of other oral health knowledge items in the intervention group were higher than those in the control group ( χ 2=3.92-163.94, all P <0.05). The reported rates of tooth brushing related behaviors and sugary beverage consumption were higher in the intervention group than in the control group ( χ 2=4.02-11.42,all P <0.05).
Conclusions
The Comprehensive Intervention Project for Childhood Oral Diseases improves children s oral health status, oral health knowledge, and some oral health behaviors, but has limited effects on some behaviors and oral health attitudes. Future efforts should focus on the factors influencing the transformation of children s oral health attitudes and behaviors, along with strengthening long term follow up evaluations.
3.Cross-modal hash retrieval of medical images based on Transformer semantic alignment.
Qianlin WU ; Lun TANG ; Qinghai LIU ; Liming XU ; Qianbin CHEN
Journal of Biomedical Engineering 2025;42(1):156-163
Medical cross-modal retrieval aims to achieve semantic similarity search between different modalities of medical cases, such as quickly locating relevant ultrasound images through ultrasound reports, or using ultrasound images to retrieve matching reports. However, existing medical cross-modal hash retrieval methods face significant challenges, including semantic and visual differences between modalities and the scalability issues of hash algorithms in handling large-scale data. To address these challenges, this paper proposes a Medical image Semantic Alignment Cross-modal Hashing based on Transformer (MSACH). The algorithm employed a segmented training strategy, combining modality feature extraction and hash function learning, effectively extracting low-dimensional features containing important semantic information. A Transformer encoder was used for cross-modal semantic learning. By introducing manifold similarity constraints, balance constraints, and a linear classification network constraint, the algorithm enhanced the discriminability of the hash codes. Experimental results demonstrated that the MSACH algorithm improved the mean average precision (MAP) by 11.8% and 12.8% on two datasets compared to traditional methods. The algorithm exhibits outstanding performance in enhancing retrieval accuracy and handling large-scale medical data, showing promising potential for practical applications.
Algorithms
;
Semantics
;
Humans
;
Ultrasonography
;
Information Storage and Retrieval/methods*
;
Image Processing, Computer-Assisted/methods*
4.Cross modal medical image online hash retrieval based on online semantic similarity.
Qinghai LIU ; Lun TANG ; Qianlin WU ; Liming XU ; Qianbin CHEN
Journal of Biomedical Engineering 2025;42(2):343-350
Online hashing methods are receiving increasing attention in cross modal medical image retrieval research. However, existing online methods often lack the learning ability to maintain semantic correlation between new and existing data. To this end, we proposed online semantic similarity cross-modal hashing (OSCMH) learning framework to incrementally learn compact binary hash codes of medical stream data. Within it, a sparse representation of existing data based on online anchor datasets was designed to avoid semantic forgetting of the data and adaptively update hash codes, which effectively maintained semantic correlation between existing and arriving data and reduced information loss as well as improved training efficiency. Besides, an online discrete optimization method was proposed to solve the binary optimization problem of hash code by incrementally updating hash function and optimizing hash code on medical stream data. Compared with existing online or offline hashing methods, the proposed algorithm achieved average retrieval accuracy improvements of 12.5% and 14.3% on two datasets, respectively, effectively enhancing the retrieval efficiency in the field of medical images.
Semantics
;
Humans
;
Algorithms
;
Information Storage and Retrieval/methods*
;
Diagnostic Imaging
;
Image Processing, Computer-Assisted/methods*
5.Functional characterization of double-negative T cells isolated from leukoreduction filter residues.
Zhiqiang XIANG ; Yue WU ; Kaiyu HUANG ; Fuqiang WU ; Ju LIN ; Lieyong SANG ; Liming YANG
Journal of Zhejiang University. Medical sciences 2025;():1-9
OBJECTIVES:
To characterize the biological properties of double-negative T (DNT) cells isolated from leukoreduction filter residues.
METHODS:
Leukoreduction filters containing residues from 400 mL whole blood units (n=6) were collected from a blood center. Filters were back-flushed with normal saline, and the eluate was concentrated to obtain leukoreduction filter residues. Leukocytes in the residues were counted by dual-fluorescence staining. DNT cells were then isolated from the residues using antibody-mediated adsorption and density gradient centrifugation. Both cryopreserved and fresh unstimulated DNT cells derived from the residues were subjected to in vitro culture. Following culture, cells were assessed for expansion fold, viability, immunophenotype, differentiation status, and cytotoxicity against target cells using dual-fluorescence staining and flow cytometry, with comparisons made to DNT cells derived from whole blood.
RESULTS:
The leukocyte recovery rate achieved through reverse flushing of the leukocyte reduction filter was (41.9±14.7)%. Compared to whole blood, the DNT cell starting material obtained from filter residues showed no significant difference in total T-cell content (P>0.05). However, the viability and purity of the resulting DNT cell starting materials were significantly lower (both P<0.05). After 17 days of culture, DNT cells from filter residues and whole blood showed no significant differences in expansion fold, immunophenotype, differentiation status, or cytotoxicity toward target cells (all P>0.05). However, the viability of DNT cells from residues was significantly lower than that of whole blood-derived DNT cells [(86.0±4.2)% vs. (92.2±1.2)%, P<0.05]. After thawing (post 3 or 15 days of cryopreservation) and 17 days of culture, DNT cell starting materials from residues showed comparable immunophenotype, expansion fold, and differentiation status to their non-cryopreserved counterparts from the same source (all P>0.05). However, the viability of DNT cells cryopreserved for 3 days [92.4% (91.8%, 92.8%)] and the cytotoxicity against target cells of those cryopreserved for 15 days [91.3% (89.4%, 95.1%)] were significantly higher than those of non-cryopreserved DNT cells [87.8% (82.0%, 89.0%) and 70.9% (67.3%, 80.2%), respectively] (P<0.05).
CONCLUSIONS
DNT cells derived from leukoreduction filter residues exhibited highly comparable characteristics to those from whole blood in terms of expansion, purity, differentiation, and biological potency. Furthermore, their biological activity post-cryopreservation and revival remained largely similar to non-cryopreserved cells. These findings suggest that leukoreduction filter residues represent a promising alternative source of starting material for manufacturing off-the-shelf, allogeneic DNT cell therapeutics.
6.Deubiquitinase USP13 alleviates doxorubicin-induced cardiotoxicity through promoting the autophagy-mediated degradation of STING.
Liming LIN ; Jibo HAN ; Diyun XU ; Zimin FANG ; Bozhi YE ; Jinfu QIAN ; Xue HAN ; Julian MIN ; Xiaohong LONG ; Gaojun WU ; Guang LIANG
Acta Pharmaceutica Sinica B 2025;15(5):2545-2558
Doxorubicin (Dox) is an anthracycline drug widely applied in various malignancies. However, the fatal cardiotoxicity induced by Dox limits its clinical application. Post-transcriptional protein modification via ubiquitination/deubiquitination in cardiomyocytes mediates the pathophysiological process in Dox-induced cardiotoxicity (DIC). In this study, we aimed to clarify the regulatory role and mechanism of a deubiquitinating enzyme, ubiquitin-specific peptidase 13 (USP13), in DIC. RNA-seq analysis and experimental examinations identified that cardiomyocyte-derived USP13 positively correlated with DIC. Mice with cardiac-specific deletion of USP13 were subjected to Dox modeling. Adeno-associated virus serotype 9 (AAV9) carrying cTNT promoter was constructed to overexpress USP13 in mouse heart tissues. Cardiomyocyte-specific knockout of USP13 exacerbated DIC, while its overexpression mitigated DIC in mice. Mechanistically, USP13 deubiquitinates the stimulator of interferon genes (STING) and promotes the autolysosome-related degradation of STING, subsequently alleviating cardiomyocyte inflammation and death. Our study suggests that USP13 serves a cardioprotective role in DIC and indicates USP13 as a potential therapeutic target for DIC treatment.
7.Pancreatic duct bind with supporting tube combined with single-needle suture for pancreaticojejunostomy in LPD
Huicong HUANG ; Jian DUAN ; Jinlan HE ; Zhe QING ; Liming ZHOU ; Yujun FANG ; Wenqi WU
Chinese Journal of Hepatobiliary Surgery 2025;31(4):278-283
Objective:To investigate the practical value of pancreatic duct bind with supporting tube combined with single-needle suture for pancreaticojejunostomy in laparoscopic pancreaticoduodenectomy (LPD).Methods:The clinical data of 65 patients with pancreatic head or periampullary tumors who underwent LPD at the First Affiliated Hospital of Kunming Medical University between January 2021 and June 2024 were retrospectively analysed. Among them, 31 were male and 34 were female, aged (57.7±13.3) years. The patients were divided into two groups based on the method of pancreaticojejunostomy: 22 patients who underwent pancreatic duct bind with supporting tube single-needle suture pancreaticojejunos-tomy were included in the study group, 43 patients who underwent traditional pancreatic duct-to-mucosa pancreaticojejunostomy were included in the control group. The clinical data of the patients, including gender, age, operation time, pancreaticojejunostomy time, and postoperative complications, etc. were recorded.Results:Compared with the control group, the pancreaticojejunostomy time [(25.3±2.4) min vs. (47.0±3.9) min] and operation time [(425.2±52.1) min vs. (453.7±30.8) min] of the study group were both shortened, and the differences were statistically significant (both P<0.05). There was no statistically significant difference in the postoperative complication rate between the study group and the control group [18.2% (4/22) vs. 34.9% (15/43), P=0.161]. The incidence of clinically relevant pancreatic fistula in the study group was lower than that in the control group [4.5% (1/22) vs. 30.2% (13/43)], and the difference was statistically significant ( P=0.024). Conclusion:Pancreatic duct bind with supporting tube combined with single-needle suture pancreaticojejunostomy is safe and effective in LPD. Compared with traditional pancreatic duct-to-mucosa pancreaticojejunostomy, pancreatic duct bind with supporting tube combined with single-needle suture pancreaticojejunostomy has advantages in terms of clinically relevant pancreatic fistula rate, operation time, and pancreaticojejunostomy time.
8.Correlation between plasma Hcy and the degree of coronary artery calcification in the elderly
Jingyuan GAO ; Qianqian PENG ; Liming HAN ; Yawen WU ; Han YAN ; Jingwei LIU ; Yuyang YANG
China Modern Doctor 2025;63(20):18-21
Objective To investigate the association between plasma homocysteine(Hcy)level and coronary artery calcification(CAC)and its clinical predictive efficacy.Methods A total of 172 patients who underwent coronary CT angiography North China University of Science and Technology Affiliated Hospital from April 2019 to May 2021 and CAC score(CACS)>0 were enrolled.According to the CACS value,the subjects were divided into mild calcification group(n=136)and severe calcification group(n=36),and the clinical characteristics of two groups were compared and analyzed.Multivariate Logistic regression model was used to screen the independent influencing factors of CAC severity,and a prediction model was constructed based on the Hcy detection value.The clinical diagnostic value was evaluated by the receiver operating characteristic(ROC)curve.Results There were significant differences in Hcy,white blood cell count,triglyceride and magnesium ion levels between two groups(P<0.05).Multivariate Logistic regression analysis showed that Hcy,white blood cell count and magnesium ion level were independent risk factors for the progression of CAC.Furthermore,a regression model based on Hcy was constructed and ROC curve was fitted to evaluate its predictive efficacy.The results suggested that the predictive model had the best performance when the critical value of Hcy was set at 27.4μmol/L:the sensitivity was 55.6%,the specificity was 97.1%,and the area under the curve was 0.765.Conclusion Hcy serves as an independent risk factor for the severity of CAC and can effectively predict the progression of CAC with high accuracy.
9.Observation of the clinical efficacy of moxa-stick moxibustion in treating diarrhea-predominant irritable bowel syndrome
Jindan MA ; Guona LI ; Fangyuan SUN ; Qin QI ; Luyi WU ; Chen ZHAO ; Huirong LIU ; Yuan LU ; Xiaopeng MA ; Liming CHEN ; Zhaoqin WANG ; Cili ZHOU ; Huangan WU ; Jue HONG
Journal of Acupuncture and Tuina Science 2025;23(2):135-143
Objective:To observe the clinical efficacy of gentle moxibustion at different temperatures in treating people with diarrhea-predominant bowel syndrome(IBS-D)due to spleen deficiency.Methods:A total of 108 IBS-D patients were divided into two groups using the random number table method,with 54 participants in each group.Moxibustion group 1 received gentle moxibustion at(43±1)℃at bilateral Tianshu(ST25)and Zusanli(ST36),lasting 30 min each session;moxibustion group 2 received gentle moxibustion at(37±1)℃at the same points.Both groups received the intervention 3 times weekly for a total of 18 sessions.Abdominal pain intensity,stool form,pattern-based efficacy,quality of life,and mental health assessments were performed at weeks 0,3,6,and 8.Results:The total effective rate for abdominal pain intensity was 87.8%in moxibustion group 1 versus 51.1%in moxibustion group 2,and the difference was statistically significant(P<0.05).When the treatment finished,abdominal pain intensity,the Bristol score,IBS-symptom severity scale(IBS-SSS)score,self-rating anxiety scale(SAS)score,and self-rating depression scale(SDS)score dropped significantly in both groups(P<0.05),and the IBS-quality of life(IBS-QOL)score increased markedly(P<0.05).Between-group comparisons demonstrated that abdominal pain intensity,the Bristol general score,IBS-SSS score,traditional Chinese medicine(TCM)pattern score,and SDS score were significantly lower in moxibustion group 1 than in moxibustion group 2 at treatment week 6(P<0.05),and the IBS-QOL score was notably higher in moxibustion group 1(P<0.05).Conclusion:Whether at 43℃or 37℃,gentle moxibustion at Tianshu(ST25)and Zusanli(ST36)can improve abdominal pain,stool form,and quality of life,reduce disease severity,and mitigate TCM pattern in IBS-D patients;43℃gentle moxibustion performs better than 37℃gentle moxibustion in improving abdominal pain,stool form,disease severity,TCM pattern,quality of life,anxiety,and depression in IBS-D.
10.Guideline for diagnosis and treatment of infection after internal fixation of closed lower limb fractures in adults (version 2025)
Bobin MI ; Faqi CAO ; Weixian HU ; Wu ZHOU ; Chenchen YAN ; Hui LI ; Yun SUN ; Yuan XIONG ; Jinmi ZHAO ; Qikai HUA ; Xinbao WU ; Xieyuan JIANG ; Dianying ZHANG ; Zhongguo FU ; Dankai WU ; Guangyao LIU ; Guodong LIU ; Tengbo YU ; Jinhai TAN ; Xi CHEN ; Fengfei LIN ; Zhangyuan LIN ; Dongfa LIAO ; Aiguo WANG ; Shiwu DONG ; Gaoxing LUO ; Zhao XIE ; Dong SUN ; Dehao FU ; Yunfeng CHEN ; Changqing ZHANG ; Kun LIU ; Deye SONG ; Yongjun RUI ; Fei WU ; Ximing LIU ; Junwen WANG ; Meng ZHAO ; Biao CHE ; Bing HU ; Chengjian HE ; Guanglin WANG ; Xiao CHEN ; Guandong DAI ; Shiyuan FANG ; Wenchao SONG ; Ming CHEN ; Guanghua GUO ; Yongqing XU ; Lei YANG ; Wenqian ZHANG ; Kun ZHANG ; Xin TANG ; Hua CHEN ; Weiguo XU ; Shuquan GUO ; Yong LIU ; Xiaodong GUO ; Zhewei YE ; Liming XIONG ; Tian XIA ; Hongbin WU ; Qisheng ZHOU ; Mengfei LIU ; Yiqiang HU ; Yanjiu HAN ; Hang XUE ; Kangkang ZHA ; Wei CHEN ; Zhiyong HOU ; Bin YU ; Jiacan SU ; Peifu TANG ; Baoguo JIANG ; Guohui LIU
Chinese Journal of Trauma 2025;41(5):421-432
Postoperative infection of internal fixation of closed fractures the lower limbs in adults represents a devastating complication, characterized by diagnostic challenges, prolonged treatment duration and high disability rates. Current management of these infections faces multiple challenges, such as difficulties in early accurate diagnosis, and various controversies about the treatment plan, leading to poor overall diagnosis and treatment results. To address these issues, based on evidence-based medicine and principles with emphasis on scientific rigor, clinical applicability and innovation, the Trauma Branch of the Chinese Medical Association, Orthopedic Branch of the Chinese Medical Doctor Association, Orthopedics Branch of the Chinese Medical Association, and Trauma Orthopedics and Polytrauma Group of the Resuscitation and Emergency Committee of the Chinese Medical Doctor Association have collaboratively organized a panel of relevant experts to develop the Guideline for diagnosis and treatment of infection after internal fixation of closed lower limb fractures in adults ( version 2025). The guideline proposed 10 recommendations, aiming to provide a foundation for standardized diagnosis and treatment of postoperative infection in adults with closed lower limb fractures.


Result Analysis
Print
Save
E-mail