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Multi-omics analyses of G6PD deficiency variants in Chinese population

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Journal of Genetics and Genomics 2024年第1期51卷 100-104页

作者： He Ji Jiahuan Chen Peide Huang Zhimin Feng Weining Hu Mengyao Dai Xiaohui Sun Xiao Jin Guangquan Chen Guang Ning Lin Li Weiqing Wang Yanan Cao Department of Endocrine and metabolic Diseases Shanghai Institute of Endocrine and Metabolic DiseasesNational Clinical Research Centre for Metabolic DiseasesState Key Laboratory of Medical GenomicsResearch Unit of Clinical and Basic Research on Metabolic Diseases of Chinese Academy of Medical SciencesRuijin Yangtze River Delta Health InstituteWuxi Branch of Ruijin HospitalRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China National research Center for Translational Medicine National Key Scientific Infrastructure for Translational MedicineShanghai Jiao Tong UniversityShanghai 200240China SJTU-BGI Innovation research Center Shanghai 200240China BGI-ShenZhen ShenzhenGuangdong 518083China

Glucose-6-phosphate dehydrogenase(G6PD)deficiency is one of the most prevalent hereditary and X-linked enzyme disorders caused by the pathogenetic G6PD(NM_001042351.2)variants(Yang et al.,2016).The clinical manifestations of G6PD deficiency offer a wide spectrum of diverse disease phenotypes(Hecker et al.,2013).Investigations of prevalence and molecular epidemiology demonstrate that G6PD deficiency affects over 400 milion individuals worldwide and leads to thousands of deaths annually(Mortality and Causes of Death,2015).

关键词： al. G6PD epidemiology

Effect of pediatric Tuina on children's recurrent acute respiratory tract infections: a retrospective cohort study in Southern China

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Journal of Traditional Chinese Medicine 2024年第3期44卷 586-594页

作者： YIN Lingjia ST?LSBY LUNDBORG Cecilia WU Darong YANG Jinghua ALVESSON Helle M?lsted CAI Jianxiong LU Taoying XIE Qianwen MARRONE Gaetano Department of Global Public Health Karolinska Institutet State Key Laboratory of Dampness syndrome of Chinese Medicine the Second Affiliated Hospital of Guangzhou University of Chinese Medicine Outcome Assessment research Team in Chinese Medicine the Second Affiliated Hospital of Guangzhou University of Chinese Medicine Health Construction Administration centre Guangdong Provincial Hospital of Chinese Medicine Guangdong Provincial Key Laboratory of Clinical research on Traditional Chinese Medicine syndrome the Second Affiliated Hospital of Guangzhou University of Chinese Medicine Department of Pediatrics the Second Affiliated Hospital of Guangzhou University of Chinese Medicine

OBJECTIVE: To determine the effectiveness of pediatric Tuina(PT) in preventing recurrent acute respiratory tract infections(ARTIs) in children. METHODS: This is a retrospective cohort study based on the electronic medical records of children with recurrent ARTIs in 2016. Children were divided into a PT group or a non-PT group, according to whether they had received PT or not in 2016. The primary outcome was the number of ARTI episodes in 2017 and 2018. The secondary outcomes were the number of ARTIs leading to outpatient department visits and outpatient antibiotic prescriptions due to ARTIs in the same time period. Negative binomial regressions were used to detect the association between PT and the outcomes. RESULTS: A total of 2303 children were included in the analysis, including 94 in the PT group and 2209 in the non-PT group. Children who received PT six or more times in 2016 had fewer episodes of ARTIs in 2017 [incidence rate ratio(IRR): 0.59, 95% confidence interval(CI)(0.42-0.84)] and 2018 [IRR: 0.58, 95% CI(0.36-0.94)] and fewer outpatient department visits due to ARTIs in 2017 [IRR: 0.56, 95% CI(0.38-0.83)] than children who had not received PT in 2016. There was no significant difference in the number of outpatient antibiotic prescriptions between the two groups. CONCLUSIONS: Receiving PT six or more times within one year is associated with a decrease in recurrent ARTIs in children in the following two years. Randomized controlled trials are needed for effect evaluation prior to establishing PT as a method for preventing recurrent ARTIs among children.

关键词： child massage pediatric Tuina respiratory tract infections

Early-life famine exposure,adulthood obesity patterns,and risk of low-energy fracture

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Frontiers of Medicine 2024年第1期18卷 192-203页

作者： Hongyan Qi Chunyan Hu Jie Zhang Lin Lin Shuangyuan Wang Hong Lin Xiaojing Jia Yuanyue Zhu Yi Zhang Xueyan Wu Mian Li Min Xu Yu Xu Tiange Wang Zhiyun Zhao Weiqing Wang Yufang Bi Meng Dai Yuhong Chen Jieli Lu Department of Endocrine and metabolic Diseases Shanghai Institute of Endocrine and Metabolic DiseasesRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai200025China Shanghai National Clinical research Center for Endocrine and metabolic Diseases Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the People’s Republic of ChinaShanghai National Center for Translational MedicineRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai200025China

Malnutrition in early life increases the risk of osteoporosis,but the association of early-life undernutrition combined with adulthood obesity patterns with low-energy fracture remains *** study included 5323 community-dwelling subjects aged⩾40 years from ***-life famine exposure was identified based on the participants’birth *** obesity was assessed using the body mass index(BMI),and abdominal obesity was evaluated with the waist-to-hip ratio(WHR).Low-energy fracture was defined as fracture occurring after the age of⩾40 typically caused by falls from standing height or *** to the nonexposed group,the group with fetal,childhood,and adolescence famine exposure was associated with an increased risk of fracture in women with odds ratios(ORs)and 95%confidence intervals(CIs)of 3.55(1.57–8.05),3.90(1.57–9.71),and 3.53(1.05–11.88),respectively,but not in *** interactions were observed between fetal famine exposure and general obesity with fracture among women(P for interaction=0.0008).Furthermore,compared with the groups with normal BMI and WHR,the group of women who underwent fetal famine exposure and had both general and abdominal obesity had the highest risk of fracture(OR,95%CI:3.32,1.17–9.40).These results indicate that early-life famine exposure interacts with adulthood general obesity and significantly increases the risk of low-energy fracture later in life in women.

关键词： famine obesity body mass index waist-to-hip ratio low-energy fracture

The journey towards physiology and pathology: Tracing the path of neuregulin 4

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Genes & Diseases 2024年第2期11卷 687-700页

作者： Min Chen Jieying Zhu Hongyang Luo Wangjing Mu Liang Guo School of Exercise and Health and Shanghai Frontiers Science research Base of Exercise and metabolic Health Shanghai University of SportShanghai 200438China

Neuregulin 4 (Nrg4),an epidermal growth factor (EGF) family member,can bind to and activate the ErbB4 receptor tyrosine ***4 has five different isoforms by alternative splicing and performs a wide variety of ***4 is involved in a spectrum of physiological processes including neurobiogenesis,lipid metabolism,glucose metabolism,thermogenesis,and *** pathological processes,Nrg4 inhibits inflammatory factor levels and suppresses apoptosis in inflammatory *** addition,Nrg4 could ameliorate obesity,insulin resistance,and cardiovascular ***,Nrg4 improves non-alcoholic fatty liver disease (NAFLD) by promoting autophagy,improving lipid metabolism,and inhibiting cell death of ***,Nrg4 is closely related to the development of cancer,hyperthyroidism,and some other ***,elucidation of the functional role and mechanisms of Nrg4 will provide a clearer view of the therapeutic potential and possible risks of Nrg4.

关键词： Angiogenesis Cardiovascular diseases Inflammation Insulin resistance Lipid and glucose metabolism NAFLD Neurobiogenesis Obesity

RsaL is a self-regulatory switch that controls alternative biosynthesis of two AHL-type quorum sensing signals in Pseudomonas aeruginosa PA1201

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mLife 2024年第1期3卷 74-86页

作者： Ya-Wen He Zi-Jing Jin Ying Cui Kai Song Bo Chen Lian Zhou State Key Laboratory of Microbial Metabolism Joint International Research Laboratory of Metabolic and Developmental SciencesSJTU-NLBP Joint R&D Centre for Biopesticides and BiofertilizersSchool of Life Sciences and BiotechnologyShanghai Jiao Tong UniversityShanghaiChina Zhiyuan Innovative research centre Student Innovation CentreZhiyuan CollegeShanghai Jiao Tong UniversityShanghaiChina

Pseudomonas aeruginosa is a ubiquitous and metabolically versatile microorganism naturally found in soil and *** is also an opportunistic pathogen in plants,insects,animals,and *** response to increasing cell density,*** uses two acylhomoserine lactone(AHL)quorum-sensing(QS)signals(i.e.,N-3-oxo-dodecanoyl homoserine lactone[3-oxo-C12-HSL]and Nbutanoyl-homoserine lactone[C4-HsL]),which regulate the expression of hundreds of ***,how the biosynthesis of these two QS signals is coordinated remains *** studied the regulation of these two QS signals in the rhizosphere strain ***1201 sequentially produced 3-oxo-C12-HSL and C4-HSL at the early and late growth stages,*** highest 3-oxo-C12-HSL-dependent elastase activity was observed at the early stage,while the highest C4-HSL-dependent rhamnolipid production was observed at the late *** atypical regulator RsaL played a pivotal role in coordinating 3-oxo-C12-HSL and C4-HSL biosynthesis and QS-associated *** repressed las/transcription by binding the-10 and-35 boxes of the lasl *** contrast,RsaL activated rhll transcription by binding the region encoding the 5'-untranslated region of the rhll ***,RsaL repressed its own expression by binding a nucleotide motif located in the-35 box of the rsaL ***,RsaL acts as a molecular switch that coordinates the sequential biosynthesis of AHL QS signals and differential virulence in ***,C4-HSL activation by RsaL was independent of the Las and Pseudomonas quinolone signal(PQS)QS signaling ***,we propose a new model of the QS regulatory network in PA1201,in which RsaL represents a superior player acting at the top of the hierarchy.

关键词： N-3-oxo-dodecanoyl homoserine lactone N-butanoyl-homoserine lactone Pseudomonas aeruginosa quorum sensing RsaL

Commentary:Gut microbiota reduce the risk of hyperuricemia and gout in the human body

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Acta Pharmaceutica Sinica B 2024年第1期14卷 433-435页

作者： Lin Wang Jianping Ye metabolic Disease research Center Zhengzhou University Affiliated Zhengzhou Central HospitalZhengzhou 450007China research Center for Basic Medicine Academy of Medical SciencesZhengzhou UniversityZhengzhou 450052China

Gout,a prevalent and painful metabolic disease often associated with obesity and aging,is caused by the deposition of urate crystals in joints,bones,or soft *** is an intermediate metabolite within the purine degradation pathway,predominantly derived from uric acid under physiological pH *** occurs due to excessive uric acid production or insufficient excretion2,which is associated with various chronic diseases,including type 2 diabetes.

关键词： Uric acid Gout Microbiota Gut Uricase

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Commentary:Mammokine directs beige adipocytes to reserve energy for milk production in breast

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Acta Pharmaceutica Sinica B 2024年第3期14卷 1472-1476页

作者： Lina Tang Jianping Ye metabolic Disease research Center Zhengzhou University Affiliated Zhengzhou Central HospitalZhengzhou 450007China research Center for Basic Medicine Academy of Medical SciencesZhengzhou UniversityZhengzhou 450052China

Beige/brown adipocytes play a crucial role in regulating the body’s overall energy *** thermogenic function is under the influence of various tissues,including the brain,muscles,and ***,the breast tissue is not in th... 详细信息

关键词： Beige Breast Epitheliail cells scRNA-seq Thermogenesis

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Management of monogenic diabetes in pregnancy:A narrative review

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World Journal of Diabetes 2024年第1期15卷 15-23页

作者： Mohammad Sadiq Jeeyavudeen Sarah R Murray Mark W J Strachan metabolic Unit Western General HospitalEdinburgh EH42XUUnited Kingdom MRC centre for Reproductive Health University of Edinburgh Queen’s Medical Research InstituteEdinburgh EH164TJUnited Kingdom

Pregnancy in women with monogenic diabetes is potentially complex,with significant implications for both maternal and fetal *** these,maturity-onset diabetes of the young(MODY)stands out as a prevalent monogenic diabetes subtype frequently encountered in clinical *** subtype of MODY requires a distinct approach tailored to the pregnancy,diverging from management strategies in non-pregnant *** MODY(GCK-MODY)typically does not require treatment outside of pregnancy,but special considerations arise when a woman with GCK-MODY becomes *** glycemic targets in GCK-MODY pregnancies are not exclusively dictated by the maternal/paternal MODY genotype but are also influenced by the genotype of the developing *** pregnancy,the choice between sulfonylurea or insulin for treating hepatocyte nuclear factor 1-alpha(HNF1A)-MODY and HNF4A-MODY depends on the mother’s specific circumstances and the available *** of other rarer MODY subtypes is individu-alized,with decisions made on a case-by-case ***,a collaborative approach involving expert diabetes and obstetric teams is crucial for the compre-hensive management of MODY pregnancies.

关键词： Diabetes Pregnancy Maturity-onset diabetes of the young Insulin Sulphonylurea Glucokinase Hepatocyte nuclear factor 1-alpha,hepatocyte nuclear factor 1-beta,and hepatocyte nuclear factor 4-alpha

Efficient scar-free knock-ins of several kilobases in plants by engineered CRISPR-Cas endonucleases

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Molecular Plant 2024年第5期17卷 824-837页

作者： Tom Schreiber Anja Prange Petra Schafer Thomas Iwen Ramona Grutzner Sylvestre Marillonnet Aurelie Lepage Marie Javelle Wyatt Paul Alain Tissier Department of Cell and metabolic Biology Leibniz Institute of Plant BiochemistryWeinberg 306120 Halle(Saale)Germany Limagrain Centre de RechercheRoute d’EnnezatCS 9012663720 ChappesFrance

In plants and mammals,non-homologous end-joining is the dominant pathway to repair DNA doublestrand breaks,making it challenging to generate knock-in *** this study,we identified two groups of exonucleases from the herpes virus and the bacteriophage T7 families that conferred an up to 38-fold increase in homology-directed repair frequencies when fused to Cas9/Cas12a in a tobacco mosaic virus-based transient assay in Nicotiana *** achieved precise and scar-free insertion of several kilobases of DNA both in transient and stable transformation *** Arabidopsis thaliana,fusion of Cas9 to a herpes virus family exonuclease led to 10-fold higher frequencies of knock-ins in the first generation of *** addition,we demonstrated stable and heritable knock-ins in wheat in 1%of the primary *** together,our results open perspectives for the routine production of heritable knock-in and gene replacement events in plants.

关键词： homology-directed repair knockin gene replacement CRISPR-Cas 50 exonuclease plants