1.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.
2.Investigation of attention deficit hyperactivity disorder and subthreshold states among children in Chongqing
Xiuying YANG ; Zhanming SHI ; Yi LI ; Jiasheng LIU ; Dengguo CHENG ; Tingting HE ; Wei ZHAO ; Gang YUAN ; Ludan ZHANG ; Chunni HUANG ; Junhao LUAN ; Xiaoyue JIA ; Tiantian CHEN ; Mei WANG ; Shiping ZHENG ; Chunying WU ; Yuanming REN ; Mengfei LI
Sichuan Mental Health 2025;38(6):561-567
BackgroundAttention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by age-inappropriate inattention, excessive activities incongruous with setting, and emotional impulsivity. Subthreshold ADHD (sADHD) is clinically defined as the presence of ADHD symptoms that do not meet the full diagnostic criteria for ADHD. Children with sADHD exhibit deficits in executive function, demonstrate more conduct, learning, and anxiety-related problems compared to typically developing children, and show even poorer working memory performance than children diagnosed with ADHD. Currently, there is limited epidemiological research on sADHD in China, with few studies simultaneously investigating the prevalence of both ADHD and sADHD in children. ObjectiveTo investigate the prevalence of ADHD and sADHD among children aged 6–13 years in Chongqing, analyzing their distribution characteristics within this population, with the aim of providing references for developing preventive measures against both ADHD and sADHD. MethodsFrom October to November 2023, a total of 3 398 students in grades 1–6 from six primary schools in Jiangbei District, Chongqing were selected using a stratified cluster random sampling method. The occurrence of ADHD and sADHD was evaluated by using the short version (18-item version) of the Swanson, Nolan, and Pelham IV rating scales (SNAP-IV) and the Chinese vision of Schedule for Affective Disorder and Schizophrenia for School-aged Children-Present and Lifetime Version (K-SADS-PL). ResultsThe ADHD detection rate among children in Chongqing was 1.90% (95% CI: 0.014–0.024). Boys showed a significantly higher ADHD detection rate than girls (χ2=7.733, P=0.005). No statistically significant differences were found in ADHD detection rates across different grades or age groups (χ2=7.347, 12.362, P>0.05). The sADHD detection rate was 6.32% (95% CI: 0.054–0.072). Similarly, boys exhibited significantly higher sADHD detection rates than girls (χ2=21.005, P<0.01). Significant differences emerged across different grades (χ2=20.559, P=0.001), while no statistically significant difference was observed in age groups (χ2=12.070, P=0.060). ConclusionThe ADHD detection rates were comparable across all grade levels and age groups from 6–13 years old. Second-grade children demonstrated notably higher sADHD rates compared to other grades, while boys demonstrated higher prevalence rates than girls for both ADHD and sADHD. [Funded by Science and Health Joint Medical Research Project in Jiangbei District, Chongqing City in the Second Half of 2023 (number, 2023JBKWLH022)]
3.Recurrent diabetic foot ulcer: a comprehensive analysis of epidemiological features and pathophysiological mechanisms
Xuejun NI ; Xiaofen WAN ; Lu CHEN ; Biao WANG ; Xiuying SHAN
Chinese Journal of Plastic Surgery 2025;41(5):515-523
Diabetic foot ulcer (DFU) have emerged as a serious global health issue due to its high rates of occurrence, disability, and mortality. DFU exhibit an exceptionally high recurrence rate, driven by a combination of behavioral and biological factors, leading to the recognition of fully epithelialized ulcers as being in "remission" rather than cured. However, the pathogenic factors underlying recurrent DFU (RDFU) remain poorly understood. This review examines the epidemiological characteristics and pathophysiological mechanisms of RDFU. Key mechanisms include neuropathy, angiopathy, epigenetic modifications, and metabolic memory. Research demonstrates that RDFU development results from the interplay of multiple factors: hyperglycemia-induced metabolic abnormalities, chronic inflammatory responses, vascular and neurological damage, as well as dysregulated epigenetic control. These factors interact synergistically, creating a vicious cycle that increases the risk of recurrence and delays recovery. By synthesizing current knowledge, this review aims to provide a foundation for future research and clinical management of RDFU. The insights presented support the development of personalized treatment strategies and effective preventive measures to reduce recurrence and improve patient outcomes.
4.Development of a classification system for nursing science and directions of future development
Ying WU ; Lanshu ZHOU ; Siyuan TANG ; Changrong YUAN ; Hongying PI ; Xiuying HU ; Hong LU ; Jingli CHEN ; Yanling WANG ; Mei SUN ; Guihua XU
Chinese Journal of Nursing 2025;60(13):1541-1547
As an independent first-level discipline,an appropriate classification of nursing science is significant.In China,each nursing degree-granting institution has developed its own secondary-level discipline directions based on its research characteristics and strengths,with varying names and research scopes.Furthermore,there is no unified global classification system.This paper,based on the characteristics of nursing as a discipline and combined with China's discipline classification principles,used literature analysis,comprehensive classification,philosophical reflection,logical reasoning,and expert consultation methods to explore the connotation of nursing,its unique research objects and scope,and to construct a secondary-level discipline classification system for nursing science that is suitable for China's national conditions.The paper also discussed the challenges faced by the nursing discipline and its future development directions,providing theoretical and practical guidance for the development of the nursing discipline.
5.Comparison of retinal vascular perfusion area between adults and children and its correlation with axial length
Jie TAO ; Min WANG ; Xiuying ZHU ; Yue LUO ; Juan XIE ; Qin LI ; Yinyin YOU ; Qi CHEN ; Yunchun ZOU
Recent Advances in Ophthalmology 2025;45(6):463-467
Objective To compare the blood flow perfusion area in different retinal vascular plexuses between adults and children using swept-source optical coherence tomography angiography(SS-OCTA)and explore the correlation of the retinal blood flow perfusion area with spherical equivalent(SE)and axial length(AL).Methods A total of 112 partici-pants,including 58 children(116 eyes,aged 8-13 years)and 54 adults(108 eyes,aged 18-30 years),were recruited from Eye Hospital,Wenzhou Medical University from December 2020 to December 2024.Based on SE,these children and adults were further divided into the emmetropia(-0.50<SE ≤+0.50 D),low myopia(-3.00<SE≤-0.50 D),and moderate myopia(-6.00<SE≤-3.00 D)groups.SS-OCTA was used to acquire the perfusion area data across retinal vascular layers.The inner vascular network of the retina was subdivided into the peripapillary radial vascular network,su-perficial vascular plexus(SVP),middle vascular plexus(MVP),and deep vascular plexus(DVP).The blood flow perfu-sion areas across retinal vascular layers were compared between adults and children.Pearson correlation analysis was per-formed to assess the correlation of the blood flow perfusion areas across retinal vascular layers with AL and SE in adults and children,respectively.Results SE was negatively correlated with AL in both adults and children(r=-0.781 and-0.667,respectively;both P<0.001).The total inner retinal perfusion area was negatively correlated with AL in both adults and children(r=-0.239 and-0.299,respectively;both P<0.05).In children,the perfusion area in the peripapil-lary radial vascular network,SVP,and DVP was negatively correlated with AL(r=-0.443,-0.315,and-0.220,respec-tively;all P<0.05).In adults,the perfusion area in SVP,MVP,and DVP was negatively correlated with AL(r=-0.243,-0.230,and-0.364,respectively;all P<0.05).Adults with low/moderate myopia exhibited a significantly larger perfu-sion area in the peripapillary radial vascular network compared with children with corresponding myopia levels,and the differences were statistically significant(both P<0.001).Conclusion There were significant differences in the perfu-sion area of the peripapillary radial vascular network between adult and pediatric myopic patients.AL showed the strongest correlations with the perfusion area of the peripapillary radial vascular network in adults and the perfusion area of DVP in children,respectively,suggesting distinct effects of retinal vascular layers at different stages of ocular growth.
6.Epidemiological characteristics and relationship analysis of food intolerance in children in Zhuzhou area
Xiang CHEN ; Sheng LI ; Hui LIN ; Xiuying YI ; Juan LI ; Manling TANG
International Journal of Laboratory Medicine 2025;46(18):2226-2230,2236
Objective To investigate the prevalence of food intolerance among children in Zhuzhou area and its relationship with age,gender,systemic diseases,and food allergies,so as to provide a basis for the scientific adjustment of children's dietary structure.Methods A retrospective analysis was conducted on totally 1 592 children who underwent food intolerance and food allergen testing in the hospital,the positive rate and distri-bution of 14 kinds of food intolerance were assessed,and their correlation with various factors was analyzed.Results Among 14 kinds of food tested,milk and eggs had the highest positive rates of intolerance,at 82.22%and 55.78%,respectively.The majority of children were intolerant to 1 to 2 kinds of food,with a de-creasing trend in the number of children intolerant to multiple kinds of food.Among the 14 types of food,ex-cept for mushrooms and pork,there were statistically significant differences in the distribution of negative,mild,moderate,and severe intolerance in other foods(P<0.05).Children tended to have moderate or even se-vere intolerance to milk and eggs,while they tended to have mild intolerance to other foods.There was no sta-tistically significant difference in the overall food intolerance rate between boys and girls(P=0.654),but the positive rate of tomato intolerance in girls was slightly higher than that in boys(P=0.043).Except for pork,there were statistically significant differences in the positive rates of intolerance to 14 different foods among different age groups(P<0.05).The positive rates of intolerance to cod,mushrooms,and crabs increased with age,while the positive rates of intolerance to beef decreased with age.There was a statistically significant difference in the positive rate of milk intolerance between healthy children and children with skin allergies(P<0.05).There was a statistically significant difference in the proportion of individuals who were tolerant and not allergic to milk compared to hose who were intolerant and allergic to milk(P<0.05).There was a statistically significant difference in the proportion of individuals who were tolerant and not allergic to eggs compared to those who were intolerant and allergic to eggs(P<0.05).Conclusion The positive rate of food intolerance among children in Zhuzhou area is relatively high,with milk and eggs being the main intolerant foods.There are differences in the positive rate of intolerance among different gender and age groups,and in-tolerance to milk and eggs is associated with food allergies to some extent.
7.A comparative study on the current status of disability assessment and long-term care needs assessment in 49 pilot cities of the long-term care insurance system
Jiali ZHANG ; Hongxiu CHEN ; Yilin WANG ; Ya LIU ; Shihao XU ; Yanyan WANG ; Birong DONG ; Hong SUN ; Xiuying HU
Chinese Journal of Nursing 2025;60(19):2384-2390
Objective To analyze the disability level and long-term care needs assessment policies issued by 49 pilot cities in China's long-term care insurance system,providing insights for further improvement of the system.Methods Policy documents related to long-term care insurance,published between June 2016 and December 2024 on official platforms of local governments,the Ministry of Human Resources and Social Security,the National Healthcare Security Administration,and the National Public Service Platform for Standards Information,were retrieved.A comparative analysis was used to summarize and compare the content of these policy texts.Results Currently,there are 49 pilot cities implementing the long-term care insurance system in China.47 cities have issued disability level assessment standards,with 38 cities adopting the trial standards issued by the National Healthcare Security Administration.In 42 pilot cities,the disability level assessment includes indicators such as activities of daily living,cognitive function,and sensory and communication abilities.22 cities have issued policies related to care needs assessment.In most cities,the care needs assessment partially or fully includes indicators from the disability level assessment.Conclusion There is no national uniformity in disability level assessment standards,and the care needs assessment framework needs further improvement.It is recommended to standardize disability level assessment criteria,clearly delineate the boundaries and content of disability level and care needs assessments,and enhance the development of the care needs assessment system.
8.A comparative analysis of the efficacy of direct mechanical thrombectomy versus bridging therapy in acute anterior circulation large vessel occlusion patients with atrial fibrillation
Kai DU ; Juehua ZHU ; Xiuying CAI ; Jieqin GONG ; Jizhen LI ; Hanchun CHEN ; Yiming MAO ; Qi FANG
Chinese Journal of Neurology 2025;58(3):277-285
Objective:To compare the efficacy and safety differences between direct mechanical thrombectomy (abbreviated as direct thrombectomy) and bridging therapy in patients with acute anterior circulation large vessel occlusion and atrial fibrillation.Methods:A retrospective collection of data was conducted for hospitalized patients who underwent mechanical thrombectomy due to acute anterior circulation large vessel occlusion with atrial fibrillation at the First Affiliated Hospital of Soochow University and Suzhou Kowloon Hospital, Shanghai Jiao Tong University School of Medicine from January 1, 2018 to December 31, 2022. Patients were divided into direct thrombectomy and bridging therapy groups based on whether intravenous thrombolysis was used, and the clinical outcomes and safety indicators of the two groups were compared. The primary clinical outcomes included the modified Rankin Scale (mRS) score at 90 days and the proportion of patients with neurological independence at 90 days (the proportion of patients with mRS scores of 0-2). Safety indicators included 90-day mortality rate, intracranial hemorrhage rate, symptomatic intracranial hemorrhage [deterioration of neurological function and an increase of ≥4 points in the National Institutes of Health Stroke Scale (NIHSS) score] rate, and pneumonia incidence. Using the 90-day prognosis as a dependent variable, a binary Logistic regression analysis was conducted to investigate the factors influencing poor prognosis in patients at 90 days.Results:Among the 534 screened patients, 125 were included in the study, with 74 in the direct thrombectomy group and 51 in the bridging therapy group. The difference in the mRS scores at 90 days between the direct thrombectomy group and the bridging therapy group was not statistically significant [2 (0, 3) vs 3 (1, 3), Z=-1.444, P=0.149]. The difference in the proportion of patients with independent neurological function at 90 days [66.2% (49/74) vs 47.1% (24/51), χ2=4.561, P=0.033] was statistically significant between the 2 groups. The 90-day mortality rate [5.4% (4/74) vs 9.8% (5/51), χ 2=0.936, P=0.483], the intracranial hemorrhage rate [17.6% (13/74) vs 29.4% (15/51), χ 2=2.437, P=0.119], the symptomatic intracranial hemorrhage rate [12.2% (9/74) vs 23.5% (12/51), χ 2=2.791, P=0.095], and the pneumonia incidence [59.5% (44/74) vs 56.9% (29/51), χ 2=0.084, P=0.772] between the 2 groups showed no statistically significant differences (all P>0.05). The time from admission to puncture was 97 (74, 122) min and 150 (127, 168) min for the direct thrombectomy and bridging therapy groups, respectively, with a statistically significant difference ( Z=-5.846, P<0.001). Binary Logistic regression analysis showed that venous thrombolysis (adjusted OR=3.004, 95% CI 1.057-8.539, P=0.039), NIHSS score at onset (adjusted OR=1.096, 95% CI 1.009-1.191, P=0.030), and pneumonia (adjusted OR=12.814, 95% CI 3.775-43.499, P<0.001) were associated with poor prognosis at 90 days. Conclusion:For patients with acute anterior circulation large vessel occlusion and atrial fibrillation, direct thrombectomy can increase the proportion of neurological independence at 90 days compared to bridging therapy, with no statistically significant differences in safety indicators, which may be related to the shorter time from admission to puncture in the direct thrombectomy group.
9.Clinical analysis and literature review of 2 cases of leptospirosis in Wenchang area following super typhoon'Yagi'
Jing CHEN ; Changrui ZHENG ; Xiuying SU ; Jia TIAN ; Shan CHEN ; Wenhuang MO
Chinese Journal of Nosocomiology 2025;35(22):3400-3404
OBJECTIVE To summarize the clinical data of 2 cases of multiple organ dysfunction syndrome(MODS)induced by infection with renal leptospira so as to provide bases for prevention and control of severe dis-eases.METHODS The clinical data of the 2 patients with leptospirosis were retrospectively analyzed after the super typhoon'Yagi'on Sep.6,2024.The cases of leptospirosis that were reported at home and abroad in recent 5 years were retrieved.The epidemiological characteristics,clinical manifestations and treatment outcomes of the cases were observed.RESULTS The 2 patients began to have symptoms on the nineth day after the typhoon,both cases presented with the manifestation such as fever,pain and fatigue,shortness of breach and cough,jaundice and anu-ria,with the blood culture negative;the definite diagnosis was mased by blood metagenomic capture method(MetaCAP).The poultry was considered as the infection source,and the illness condition progressed to sepsis and MODS.Case 1 was complicated with empsyxis,jaundice hemorrhage and renal failure and finally died.Case 2 was also detected with leptospira from cerebrospinal fluid and was complicated with renal failure and meningoencephal-itis but was cured.Among 17 cases of leptospirosis from the literatures,the male and peasants were dominant,the infected water was the major infection factor(at least 7 cases);fever,pain and fatigue,shortness of breath and cough as well as hemoptysis were the major symptoms.There were at least 12 cases with the decline of plate-lets counts,10 cases complicated with empsyxis,11 cases complicated with shock and MODS and 10 cases treated with invasive mechanical ventilation.The misdiagnosis rate was up to 76.47%,and the mortality rate was 29.41%.CONCLUSIONS The leptospirosis is a severe disease,early precise antimicrobial treatment and timely or-gan function support are the crucial to the improvement of prognosis.The health care workers should attach great importance to inquiry for diagnosis,maintain vigilant to the disease for the people with fever of unknown ori-gin,shortness of breath,pain and fatigue by combining the epidemiological history,and make an early definite di-agnosis based on novel molecular diagnosis technique so as to avoid the progression to sepsis and MODS.
10.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

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