1.Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women
Claudia Ha-ting TAM ; Ying WANG ; Chi Chiu WANG ; Lai Yuk YUEN ; Cadmon King-poo LIM ; Junhong LENG ; Ling WU ; Alex Chi-wai NG ; Yong HOU ; Kit Ying TSOI ; Hui WANG ; Risa OZAKI ; Albert Martin LI ; Qingqing WANG ; Juliana Chung-ngor CHAN ; Yan Chou YE ; Wing Hung TAM ; Xilin YANG ; Ronald Ching-wan MA
Diabetes & Metabolism Journal 2025;49(1):128-143
Background:
The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.
Methods:
We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.
Results:
Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.
Conclusion
Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.
2.Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women
Claudia Ha-ting TAM ; Ying WANG ; Chi Chiu WANG ; Lai Yuk YUEN ; Cadmon King-poo LIM ; Junhong LENG ; Ling WU ; Alex Chi-wai NG ; Yong HOU ; Kit Ying TSOI ; Hui WANG ; Risa OZAKI ; Albert Martin LI ; Qingqing WANG ; Juliana Chung-ngor CHAN ; Yan Chou YE ; Wing Hung TAM ; Xilin YANG ; Ronald Ching-wan MA
Diabetes & Metabolism Journal 2025;49(1):128-143
Background:
The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.
Methods:
We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.
Results:
Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.
Conclusion
Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.
3.Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women
Claudia Ha-ting TAM ; Ying WANG ; Chi Chiu WANG ; Lai Yuk YUEN ; Cadmon King-poo LIM ; Junhong LENG ; Ling WU ; Alex Chi-wai NG ; Yong HOU ; Kit Ying TSOI ; Hui WANG ; Risa OZAKI ; Albert Martin LI ; Qingqing WANG ; Juliana Chung-ngor CHAN ; Yan Chou YE ; Wing Hung TAM ; Xilin YANG ; Ronald Ching-wan MA
Diabetes & Metabolism Journal 2025;49(1):128-143
Background:
The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.
Methods:
We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.
Results:
Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.
Conclusion
Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.
4.Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women
Claudia Ha-ting TAM ; Ying WANG ; Chi Chiu WANG ; Lai Yuk YUEN ; Cadmon King-poo LIM ; Junhong LENG ; Ling WU ; Alex Chi-wai NG ; Yong HOU ; Kit Ying TSOI ; Hui WANG ; Risa OZAKI ; Albert Martin LI ; Qingqing WANG ; Juliana Chung-ngor CHAN ; Yan Chou YE ; Wing Hung TAM ; Xilin YANG ; Ronald Ching-wan MA
Diabetes & Metabolism Journal 2025;49(1):128-143
Background:
The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.
Methods:
We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.
Results:
Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.
Conclusion
Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.
5.Research and clinical application progress of foot lengthening surgery.
Zhiyu WANG ; Baozhou ZHANG ; Xuewen WANG ; Ban LU ; Zeyu ZHANG ; Yingdong ZHANG ; Sihe QIN ; Yong WU ; Hui DU
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(8):937-941
OBJECTIVE:
To summarize the research and clinical application progress of foot lengthening surgery.
METHODS:
Relevant research literature on foot lengthening surgery in recent years at home and abroad was reviewed, and a summary was made from aspects such as the types of lengthening surgery, the types of foot diseases treated by clinical application, effectiveness, and complications.
RESULTS:
Bone defects and shortening deformities of the foot are relatively common clinically. As an innovative treatment method, foot lengthening surgery has gradually attracted attention, mainly including the Ilizarov technique and one-stage bone grafting lengthening surgery. The former promotes bone regeneration based on the tension-stress principle and is widely used in the treatment of calcaneal defects and congenital metatarsal brachymetatarsia, achieving good curative effects. However, there are also complications such as pin-tract infection, joint stiffness and contracture, non-union and delayed union of bone, re-fracture, and alignment deviation. The latter has a short treatment cycle, but the lengthening length is limited. Bone graft resorption and soft tissue complications are its main complications.
CONCLUSION
Foot lengthening surgery will develop towards the direction of personalization, intelligence, and precision. With the help of multi-center research, biological materials, and intelligent technologies, the effectiveness and safety will be further improved to better restore the function and appearance of the foot.
Humans
;
Bone Transplantation/methods*
;
Bone Lengthening/methods*
;
Ilizarov Technique
;
Osteogenesis, Distraction/methods*
;
Foot Deformities/surgery*
;
Postoperative Complications
;
Treatment Outcome
;
Foot/surgery*
6.Early efficacy of local tranexamic acid in reducing postoperative swelling in hallux valgus surgery.
Ning SUN ; Xuewen WANG ; Yong WU ; Shuang REN ; Heng LI ; Hui DU ; Xiaofeng GONG
Journal of Peking University(Health Sciences) 2025;57(1):172-177
OBJECTIVE:
To evaluate the early efficacy of local application of tranexamic acid on the osteotomy surface during hallux valgus surgery in reducing postoperative occult blood loss and thus postoperative swelling.
METHODS:
The data of 40 cases with hallux valgus osteotomy admitted to the Department of Foot and Ankle Surgery of Jishuitan Hospital from July 11, 2022 to October 8, 2022, including 5 males and 35 females were retrospectively analyzed. According to the inclusion and exclusion criteria, 32 cases were finally divided into 16 cases in the observation group (application of tranexamic acid) and 16 cases in the control group (no application of tranexamic acid). The observation group was paired with the control group one by one in accordance with the operation style, and the change in the anterior and posterior diameter of the first metatarsal head, the change in the circumferential diameter of the foot, the length of the first metatarsal midline and the length of the plumbline of the foot measured by postoperative CT were compared between the two groups before and after surgery, in order to evaluate the degree of swelling around the incision after the surgery. The first metatarsal midline and plumb line were measured by reference to the two auxiliary lines that intersect the soft tissue border in the sesamoid bone position to measure the rotation angle of the first metatarsal. A total of three clinicians completed the measurements of these two line segments and interobserver comparisons were performed.
RESULTS:
By interobserver comparison, the consistency of the length of the midline of the first metatarsal and the plumbline measured by CT was high and could be considered a reliable measurement. After the paired t-test, there was no statistical difference in the amount of changes in the anteroposterior diameter of the first metatarsal before and after surgery between the observation and control groups (P>0.05), and the amount of changes in the circumferential diameter of the foot before and after surgery was smaller in the observation group than in the control group, which was statistically significant (P < 0.05); the length of the midline of the first metatarsal and the plumbline of the foot measured by CT after surgery was smaller in the observation group than in the control group, which was statistically significant (P < 0.05).
CONCLUSION
Local application of tranexamic acid on the osteotomy surface during hallux valgus osteotomy can relieve postoperative swelling to some extent, which may be related to the fact that tranexamic acid reduces occult blood loss in the postoperative period.
Humans
;
Hallux Valgus/surgery*
;
Tranexamic Acid/administration & dosage*
;
Female
;
Male
;
Osteotomy/adverse effects*
;
Retrospective Studies
;
Edema/etiology*
;
Adult
;
Middle Aged
;
Postoperative Complications/prevention & control*
;
Antifibrinolytic Agents/administration & dosage*
7.Nonlinear association between serum albumin levels and all-cause mortality in elderly patients with chronic aortic regurgitation.
Ming-Hui LI ; Qing-Rong LIU ; Zhen-Yan ZHAO ; Hai-Yan XU ; Yong-Jian WU
Journal of Geriatric Cardiology 2025;22(4):423-432
BACKGROUND:
Low serum albumin levels are established predictors of adverse outcomes in various cardiovascular conditions. However, the role of serum albumin in mortality among elderly patients with chronic aortic regurgitation (AR) has not been thoroughly investigated. This study aims to assess the relationship between serum albumin levels and mortality in this specific patient population.
METHODS:
Our analysis included 873 elderly AR patients from the China Valvular Heart Disease study, with baseline serum albumin measured at enrollment. Mortality outcomes were monitored for two years post-enrollment, employing a Cox proportional hazards model with a two-piecewise Cox proportional hazards framework to investigate the nonlinear relationship between serum albumin levels and all-cause mortality.
RESULTS:
During the 2-year follow-up period, we observed 63 all-cause deaths. The association between serum albumin levels and all-cause mortality displayed an approximating L-shaped curve, indicating a mortality threshold at 35 g/L. For serum albumin levels below 35 g/L, each 1 g/L decrease was associated with a 25% higher risk of all-cause mortality (HR = 1.25, 95% CI: 1.07-1.45). In contrast, no significant change in mortality risk was observed when serum albumin levels were greater than or equal to 35 g/L. Moreover, when serum albumin is classified as hypoproteinemia (serum albumin < 35 g/L), the higher risks of all-cause death were observed in hypoproteinemic patients (HR = 2.93, 95% CI: 1.50-5.74). More importantly, the association between serum albumin and death was significantly stronger in overweight/obese patients (≥ 24 kg/m2 vs. < 24 kg/m2, P interaction = 0.006).
CONCLUSIONS
In elderly patients with AR, serum albumin levels showed an approximating L-shaped relationship with all-cause death, with thresholds of 35 g/L. Body mass index was significant effect modifiers of the association. These results suggest that serum albumin, as an inexpensive and readily available biochemical marker, may further improve the stratified risk of mortality in older AR patients.
8.Bear Bile Powder Ameliorates LPS-Induced Acute Lung Injury by Inhibiting CD14 Pathway and Improving Intestinal Flora: Exploration of "Fei (Lung)-Dachang (Large Intestine) Interaction" Theory.
Long CHENG ; Hui-Ling TIAN ; Hong-Yuan LEI ; Ying-Zhou WANG ; Ma-Jing JIAO ; Yun-Hui LIANG ; Zhi-Zheng WU ; Xu-Kun DENG ; Yong-Shen REN
Chinese journal of integrative medicine 2025;31(9):821-829
OBJECTIVE:
To explore the effect of bear bile powder (BBP) on acute lung injury (ALI) and the underlying mechanism.
METHODS:
The chemical constituents of BBP were analyzed by ultra-high-pressure liquid chromatography-mass spectrometry (UPLC-MS). After 7 days of adaptive feeding, 50 mice were randomly divided into 5 groups by a random number table (n=10): normal control (NC), lipopolysaccharide (LPS), dexamethasone (Dex), low-, and high-dose BBP groups. The dosing cycle was 9 days. On the 12th and 14th days, 20 µL of Staphylococcus aureus solution (bacterial concentration of 1 × 10-7 CFU/mL) was given by nasal drip after 1 h of intragastric administration, and the mice in the NC group was given the same dose of phosphated buffered saline (PBS) solution. On the 16th day, after 1 h intragastric administration, 100 µL of LPS solution (1 mg/mL) was given by tracheal intubation, and the same dose of PBS solution was given to the NC group. Lung tissue was obtained to measure the myeloperoxidase (MPO) activity, the lung wet/dry weight ratio and expressions of CD14 and other related proteins. The lower lobe of the right lung was obtained for pathological examination. The concentrations of inflammatory cytokines including interleukin (IL)-6, tumour necrosis factor α (TNF-α ) and IL-1β in the bronchoalveolar lavage fluid (BALF) were detected by enzyme linked immunosorbent assay, and the number of neutrophils was counted. The colonic contents of the mice were analyzed by 16 sRNA technique and the contents of short-chain fatty acids (SCFAs) were measured by gas chromatograph-mass spectrometer (GC-MS).
RESULTS:
UPLC-MS revealed that the chemical components of BBP samples were mainly tauroursodeoxycholic acid and taurochenodeoxycholic acid sodium salt. BBP reduced the activity of MPO, concentrations of inflammatory cytokines, and inhibited the expression of CD14 protein, thus suppressing the activation of NF-κB pathway (P<0.05). The lung histopathological results indicated that BBP significantly reduced the degree of neutrophil infiltration, cell shedding, necrosis, and alveolar cavity depression. Moreover, BBP effectively regulated the composition of the intestinal microflora and increased the production of SCFAs, which contributed to its treatment effect (P<0.05).
CONCLUSIONS
BBP alleviates lung injury in ALI mouse through inhibiting activation of NF-κB pathway and decreasing expression of CD14 protein. BBP may promote recovery of ALI by improving the structure of intestinal flora and enhancing metabolic function of intestinal flora.
Animals
;
Acute Lung Injury/pathology*
;
Lipopolysaccharides
;
Ursidae
;
Gastrointestinal Microbiome/drug effects*
;
Bile/chemistry*
;
Lipopolysaccharide Receptors/metabolism*
;
Powders
;
Male
;
Lung/drug effects*
;
Mice
;
Peroxidase/metabolism*
;
Signal Transduction/drug effects*
;
Cytokines/metabolism*
9.Exploring Symptom Cluster Patterns in Adult Cancer Patients Undergoing Chemotherapy: A Systematic Review
Pan YANG ; Hui-juan MEI ; Hao-yu ZHAO ; Rong-rong WU ; Yong-qin GE ; Yin LU
Journal of Korean Academy of Nursing 2024;54(4):478-494
Purpose:
This systematic review aimed to scrutinize the progression of symptom cluster research in adult cancer patients who received primary or adjuvant chemotherapy between 2001 and 2023, providing a comprehensive understanding of clinical practice and future research.
Methods:
PubMed, Ovid MEDLINE, Excerpta Medica Database, Cumulative Index to Nursing and Allied Health Literature, Cochrane Library, and Web of Science databases were searched for theme words and free words related to symptom clusters, cancer, and chemotherapy. Eligible studies were published between January 1, 2001, and May 30, 2023; adults who were diagnosed with cancer and received primary or adjuvant chemotherapy were evaluated.
Results:
Twenty-eight studies were included in this review. The Memorial Symptom Assessment Scale emerged as the predominant instrument and exploratory factor analysis was the most frequently employed statistical method to identify symptom clusters. Psychological, gastrointestinal, and physical image symptom clusters were the most commonly delineated. Furthermore, the temporal stability of the symptom clusters showed varying dynamics, with psychological symptom clusters displaying relative consistency over time.
Conclusion
Interventions are needed for the most common and stable symptoms in patients with cancer undergoing chemotherapy. Future endeavors may necessitate more longitudinal studies to delve deeper into the temporal stability and dynamic variations of symptom clusters. Such investigations hold promise for advancing symptom cluster research, elucidating the underlying mechanisms, and fostering the development of targeted interventions, thereby enriching the symptom management paradigm in oncological care.
10.Design of automatic urine volume detection and collection device
Yan CHEN ; De-Zhao ZHAI ; Xiao-Quan ZHANG ; Fu-Long LIU ; Xiao-Tao ZHANG ; Yong-Mei ZHANG ; Wei CEHN ; Fang ZHANG ; Guo-Hui WU ; Jun DENG ; Dan LI
Chinese Medical Equipment Journal 2024;45(4):66-69
Objective To develop an automatic urine volume detection and collection device to solve the problems of routine urine test.Methods An automatic urine volume detection and collection device was developed with the components of a main control system,a detection system,a prompting system and a grasping and moving system.The main control system consisted of two STM32 microcontrollers and a reset switch;the detection system was made up of a weighing module,an infrared module and indicator lights,which had its urine volume automatic detection algorithm developed based on the Keil5 platform;the prompting system realized voice broadcasting through the voice module fixed on the back panel of the box;the grasping and moving system was composed of a rail drive motor(86CM stepper motor),a photoelectric switch and a motorized gripper.Results The device developed tested urine samples with an accuracy of 99.44%,and could collect qualified samples automatically and quickly.Conclusion The device developed detects urine volume and collects samples automatically,and enhances the accuracy and efficiency of urine examination.[Chinese Medical Equipment Journal,2024,45(4):66-69]

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