1.Heterogeneity of Adipose Tissue From a Single-cell Transcriptomics Perspective
Yong-Lang WANG ; Si-Si CHEN ; Qi-Long LI ; Yu GONG ; Xin-Yue DUAN ; Ye-Hui DUAN ; Qiu-Ping GUO ; Feng-Na LI
Progress in Biochemistry and Biophysics 2025;52(4):820-835
Adipose tissue is a critical energy reservoir in animals and humans, with multifaceted roles in endocrine regulation, immune response, and providing mechanical protection. Based on anatomical location and functional characteristics, adipose tissue can be categorized into distinct types, including white adipose tissue (WAT), brown adipose tissue (BAT), beige adipose tissue, and pink adipose tissue. Traditionally, adipose tissue research has centered on its morphological and functional properties as a whole. However, with the advent of single-cell transcriptomics, a new level of complexity in adipose tissue has been unveiled, showing that even under identical conditions, cells of the same type may exhibit significant variation in morphology, structure, function, and gene expression——phenomena collectively referred to as cellular heterogeneity. Single-cell transcriptomics, including techniques like single-cell RNA sequencing (scRNA-seq) and single-nucleus RNA sequencing (snRNA-seq), enables in-depth analysis of the diversity and heterogeneity of adipocytes at the single-cell level. This high-resolution approach has not only deepened our understanding of adipocyte functionality but also facilitated the discovery of previously unidentified cell types and gene expression patterns that may play key roles in adipose tissue function. This review delves into the latest advances in the application of single-cell transcriptomics in elucidating the heterogeneity and diversity within adipose tissue, highlighting how these findings have redefined the understanding of cell subpopulations within different adipose depots. Moreover, the review explores how single-cell transcriptomic technologies have enabled the study of cellular communication pathways and differentiation trajectories among adipose cell subgroups. By mapping these interactions and differentiation processes, researchers gain insights into how distinct cellular subpopulations coordinate within adipose tissues, which is crucial for maintaining tissue homeostasis and function. Understanding these mechanisms is essential, as dysregulation in adipose cell interactions and differentiation underlies a range of metabolic disorders, including obesity and diabetes mellitus type 2. Furthermore, single-cell transcriptomics holds promising implications for identifying therapeutic targets; by pinpointing specific cell types and gene pathways involved in adipose tissue dysfunction, these technologies pave the way for developing targeted interventions aimed at modulating specific adipose subpopulations. In summary, this review provides a comprehensive analysis of the role of single-cell transcriptomic technologies in uncovering the heterogeneity and functional diversity of adipose tissues.
5.Safety of high-carbohydrate fluid diet 2 h versus overnight fasting before non-emergency endoscopic retrograde cholangiopancreatography: A single-blind, multicenter, randomized controlled trial
Wenbo MENG ; W. Joseph LEUNG ; Zhenyu WANG ; Qiyong LI ; Leida ZHANG ; Kai ZHANG ; Xuefeng WANG ; Meng WANG ; Qi WANG ; Yingmei SHAO ; Jijun ZHANG ; Ping YUE ; Lei ZHANG ; Kexiang ZHU ; Xiaoliang ZHU ; Hui ZHANG ; Senlin HOU ; Kailin CAI ; Hao SUN ; Ping XUE ; Wei LIU ; Haiping WANG ; Li ZHANG ; Songming DING ; Zhiqing YANG ; Ming ZHANG ; Hao WENG ; Qingyuan WU ; Bendong CHEN ; Tiemin JIANG ; Yingkai WANG ; Lichao ZHANG ; Ke WU ; Xue YANG ; Zilong WEN ; Chun LIU ; Long MIAO ; Zhengfeng WANG ; Jiajia LI ; Xiaowen YAN ; Fangzhao WANG ; Lingen ZHANG ; Mingzhen BAI ; Ningning MI ; Xianzhuo ZHANG ; Wence ZHOU ; Jinqiu YUAN ; Azumi SUZUKI ; Kiyohito TANAKA ; Jiankang LIU ; Ula NUR ; Elisabete WEIDERPASS ; Xun LI
Chinese Medical Journal 2024;137(12):1437-1446
Background::Although overnight fasting is recommended prior to endoscopic retrograde cholangiopancreatography (ERCP), the benefits and safety of high-carbohydrate fluid diet (CFD) intake 2 h before ERCP remain unclear. This study aimed to analyze whether high-CFD intake 2 h before ERCP can be safe and accelerate patients’ recovery.Methods::This prospective, multicenter, randomized controlled trial involved 15 tertiary ERCP centers. A total of 1330 patients were randomized into CFD group ( n = 665) and fasting group ( n = 665). The CFD group received 400 mL of maltodextrin orally 2 h before ERCP, while the control group abstained from food/water overnight (>6 h) before ERCP. All ERCP procedures were performed using deep sedation with intravenous propofol. The investigators were blinded but not the patients. The primary outcomes included postoperative fatigue and abdominal pain score, and the secondary outcomes included complications and changes in metabolic indicators. The outcomes were analyzed according to a modified intention-to-treat principle. Results::The post-ERCP fatigue scores were significantly lower at 4 h (4.1 ± 2.6 vs. 4.8 ± 2.8, t = 4.23, P <0.001) and 20 h (2.4 ± 2.1 vs. 3.4 ± 2.4, t= 7.94, P <0.001) in the CFD group, with least-squares mean differences of 0.48 (95% confidence interval [CI]: 0.26–0.71, P <0.001) and 0.76 (95% CI: 0.57–0.95, P <0.001), respectively. The 4-h pain scores (2.1 ± 1.7 vs. 2.2 ± 1.7, t = 2.60, P = 0.009, with a least-squares mean difference of 0.21 [95% CI: 0.05–0.37]) and positive urine ketone levels (7.7% [39/509] vs. 15.4% [82/533], χ2 = 15.13, P <0.001) were lower in the CFD group. The CFD group had significantly less cholangitis (2.1% [13/634] vs. 4.0% [26/658], χ2 = 3.99, P = 0.046) but not pancreatitis (5.5% [35/634] vs. 6.5% [43/658], χ2 = 0.59, P = 0.444). Subgroup analysis revealed that CFD reduced the incidence of complications in patients with native papilla (odds ratio [OR]: 0.61, 95% CI: 0.39–0.95, P = 0.028) in the multivariable models. Conclusion::Ingesting 400 mL of CFD 2 h before ERCP is safe, with a reduction in post-ERCP fatigue, abdominal pain, and cholangitis during recovery.Trail Registration::ClinicalTrials.gov, No. NCT03075280.
6.A family report of cerebral small vessel disease caused by heterozygous mutation of HTRA serine peptidase 1 gene
Juanjuan HU ; Ke LI ; Xiaoxia ZENG ; Ping LI ; Shuai HU ; Xueliang QI
Chinese Journal of Cerebrovascular Diseases 2024;21(10):688-692
Cases of high-temperature requirement A serine peptidase 1(HTRA1)gene heterozygous mutation associated cerebral small vessel disease are relatively rare.Early and timely diagnosis and treatment can improve prognosis.The authors reported a 37 years old male patient admitted in Department of Neurology,the Second Affiliated Hospital of Nanchang University,whose initial symptom was transient right limb weakness,imaging suggested white matter lesions and the gene screening showed HTRA1(c.854 C>T/p.Pro285Leu)heterozygous mutation.A family survey has been conducted and the characteristics of patients in this family are as follows:they present with ischemic cerebrovascular disease,coexist with cervical or lumbar disc herniation,male patients have hair loss,some patients have cognitive dysfunction,men tend to develop the disease at an earlier age than women,and the onset age is progressively earlier from generation to generation.Therefore,for young ischemic cerebrovascular disease patients with hair loss,cognitive dysfunction,cervical or lumbar disc herniation,and obvious white matter lesions on imaging,especially those without common risk factors for cerebrovascular disease,a family history should be inquired and genetic testing should be performed to screen for HTRA1 mutations.
7.Failures and successes learned from 160 years of echinococcosis control and countermeasures in China
Chuan-Chuan WU ; Zhuang-Zhi ZHANG ; Jun LI ; Wen-Jing QI ; Jian-Ping CAO ; Can-Jun ZHENG ; Wen-Bao ZHANG
Chinese Journal of Zoonoses 2024;40(5):464-470
The transmission cycle of echinococcosis was established in 1853.More than 160 years have elapsed since Iceland initiated control measures to break the transmission cycle of echinococcosis in 1863.Control plans have been implemented in more than a dozen countries/territories,and lessons have been learned from failures as well as successes.In this review,we fo-cus on the failure experiences,which have also promoted successes in the control of cystic echinococcosis(caused by the para-site Echinococcus granulosus)in regions including Iceland,New Zealand,Uruguay,Wales(England),Turkana(Kenya),and Sardinia(Italy).The causes of the failures were analyzed,and the effects of health education,dog deworming,and con-trol measures for infected animal slaughter on echinococcosis control are comprehensively summarized.However,no suc-cessful experience has been reported in the control of alveolar echinococcosis(caused by the parasite Echinococcus multilocu-laris).On the basis of the biological characteristics of E.mul-tilocularis parasitization in dogs for a duration of 30 days and larvae parasitization in rodents,the fundamental measure for controlling alveolar echinococcosis is administration of monthly deworming treatments to dogs in high prevalence areas.
8.Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with GATA2 Gene Mutation
Ruo-Qi SHAN ; Sai HUANG ; Zhen-Yang GU ; Nan WANG ; Dai-Hong LIU ; Li-Ping DOU
Journal of Experimental Hematology 2024;32(2):327-334
Objective:To investigate the clinical characteristics,coexisting gene mutations and prognosis of acute myeloid leukemia(AML)patients with GATA2 gene mutation.Methods:The clinical data of 370 newly diagnosed AML patients treated in our hospital from January 2008 to January 2021 was analyzed retrospectively,the next-generation sequencing technology was used to detect the mutated genes in those patients.The clinical characteristics of AML patients with GATA2 mutations,the co-mutated genes of GATA2 mutations,and the effect of GATA2 mutation on prognosis were analyzed.Results:A total of 23 patients(6.2%)with GATA2 mutation was detected in 370 AML patients.Compared with GATA2 non-mutation group,patients in GATA2 mutation group were mostly normal karyotypes(P=0.037)and in low-risk cytogenetic stratification(P=0.028).The incidence of CEBPAdm and NRAS in GATA2 mutation group was significantly higher than that in GATA2 non-mutation group(P=0.010,P=0.009).There were no statistically significant differences between the two groups in terms of sex,age,white blood cell count(WBC),platelet count,hemoglobin,bone marrow(BM)blast,induction chemotherapy regimen and CR rate(P>0.05).Among the 23 patients with GATA2 mutation,the most common co-mutated genes were CEBPAdm,NRAS(both 39.1%),NPM1,FLT3,TET2,WT1(all 17.4%),ASXL1 and IDH1(both 13.0%).Survival analysis showed that there was no statistical difference in 5-year overall survival(OS)and leukemia-free survival(LFS)rates between patients with and without GATA2 mutations in whole cohort(n=370)(P=0.306,P=0.308).Among 306 patients without CEBPAdm,the 5-year OS and LFS rates in GATA2 mutation group showed an increasing trend compared with GATA2 non-mutation group,but the difference was not statistically significant(P=0.092,P=0.056).Among 64 patients with CEBPAdm,there was no statistically significant difference in 5-year OS rate between the GATA2 mutation group and the GATA2 non-mutation group(P=0.104),but the 5-year LFS rate of the GATA2 mutation group was significantly decreased(P=0.047).Among the 23 patients with GATA2 mutation,16 cases received the"3+7"induction regimen,of which 12 cases received allogeneic hematopoietic stem cell transplantation(allo-HSCT);7 cases received the"DCAG"induction regimen,of which 3 cases received allo-HSCT.The CR rate was not statistically different between the"3+7"regimen group and the"DCAG"regimen group(P=1.000).The 5-year OS rate and LFS rate in the transplantation group were significantly higher than the chemotherapy group(P=0.021,P=0.020).Conclusion:GATA2 mutation is more common in AML patients with normal karyotype and low-risk cytogenetic stratification,and it is significantly associated with CEBPAdm and NRAS co-mutations.The prognostic significance of GATA2 is influenced by CEBPAdm.The choice of"3+7"or"DCAG"induction regimen in patients with GATA2 mutation does not affect their CR rate,while the choice of allo-HSCT can significantly improved the prognosis compared with chemotherapy only.
9.A Real-World Single-Center Study of Adult Hodgkin's Lymphoma
Ling-Li WANG ; Lei TIAN ; Fei DONG ; Ping YANG ; Wei WAN ; Qi-Hui LI ; Lan MA ; Jin-Jie GAO ; Ji-Jun WANG ; Wei ZHAO ; Hong-Mei JING
Journal of Experimental Hematology 2024;32(2):428-433
Objective:To summarize the clinical characteristics,therapeutic effect and prognostic factors of patients with Hodgkin's lymphoma(HL).Methods:A total of 129 patients with HL diagnosed in Peking University Third Hospital from January 2010 to March 2021 who were given at least one efficacy assessment after treatment were enrolled,and their clinical data,including sex,age,pathological type,Ann Arbor stage,ECOG score,blood test,β2-microglobulin,lactate dehydrogenase level,albumin level were collected.The clinical characteristics,therapeutic effect and long-term prognosis of the patients were summarized and analyzed.Results:In classical HL,nodular sclerosis HL accounted for the highest proportion of 51.6%,followed by mixed cellularity HL(36.5%),lymphocyte-rich classical HL(3.2%),and lymphocyte depletion HL(0.7%),while nodular lymphocyte predominant HL accounted for 4.8%.The 3-year overall survival(OS)rate of HL patients was 89.8%,and 5-year OS was 85.0%.The 3-year progression-free survival(PFS)rate was 73.4%,and 5-year PFS was 63.1%.Multivariate regression analysis indicated that IPI score was an independent negative factor,while hemoglobin(Hb)level was an independent positive factor for OS in HL patients.When the mediastinal mass size was 9.2 cm,it was most significant to judge the survival status of HL patients.5-year OS and 5-year PFS were 97.4%and 76.0%in early-stage HL patients without large mass,respectively,while in patients with advanced-stage HL was 83.4%and 55.9%(both P<0.05).After 2-4 courses of treatment,the overall response rate(ORR)of patients who received chemotherapy combined with radiotherapy was 95.0%,while that was 89.6%in those with chemotherapy alone.Conclusions:The overall prognosis of patients with HL is satisfactory,especially those in early-stage without large mass.IPI score and Hb level are independent risk factors for the prognosis of HL patients.A 9.2 cm mediastinal mass can be used as the cut-off value for the prognosis of Chinese HL patients.
10.Relationship between DTA Mutations and Thromboembolism in Patients with Myeloproliferative Neoplasms
Min WANG ; Hong-Yu ZHAO ; Da-Qi LI ; Ping CHEN
Journal of Experimental Hematology 2024;32(3):819-824
Objective:To analyze the DTA(DNMT3A,TET2,ASXL1)mutations in patients with myeloproliferative neoplasms(MPN),and preliminarily explore their correlation with thromboembolism.Methods:Clinical characteristics of 62 patients diagnosed de novo MPN at Central Hospital Affiliated to Shandong First Medical University from September 2016 to September 2022 were retrospectively analyzed.Next-generation sequencing was used to detect 35 MPN-related genes,and the DTA mutations in MPN patients and their relationship with thromboembolic events were analyzed.Results:75.8%(47/62)of the patients presented pathogenic non-driver mutations,and the mean number of pathogenic non-driver mutations per patient was 1.08.Among them,the most frequently mutated non-driver genes were TET2(38.7%,24/62),DNMT3A(9.7%,6/62)and ASXL1(6.5%,4/62).The presence of DTA gene mutations was 50%(31/62)in the total MPN patients,and mainly accompanied by driver mutations.The mutation rate of DTA in patients aged ≥60 years was significantly higher than that in patients<60 years old(P=0.039).The incidence of thromboembolism in patients with DTA mutation was 58.1%(18/31),which was significantly higher than that in patients without DTA mutation(19.4%,6/31)(P=0.002).The TET2 gene mutation rate in MPN patients with thromboembolism was 66.7%(16/24),which was significantly higher than that in patients without thromboembolism(21.1%,8/38)(P=0.00).Conclusion:Patients with MPN have a higher incidence of DTA mutations,which are mainly accompanied by driver gene mutations.The incidence of thromboembolism in MPN patients with DTA mutations is higher than that in patients without DTA mutations.Especially,the elderly(≥60 years)essential thrombocythemia(ET)and polycythemia vera(PV)patients with TET2 mutation should be vigilant for thromboembolic events.

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