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Variable phenotypes and outcomes associated with the MMACHC c.482G>A mutation:follow-up in a large CblC disease cohort

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World Journal of Pediatrics 2024年第8期20卷 848-858页

作者： Sheng-Nan Wu Hui-Shu E Yue Yu Shi-Ying Ling Li-Li Liang Wen-juan Qiu Hui-Wen Zhang Rui-xue Shuai Hai-Yan Wei Chi-Ju yang Peng Xu Xi-Gui Chen Hui Zou Ji-Zhen Feng Ting-Ting Niu Hai-Li Hu Kai-Chuang Zhang De-Yun Lu Zhu-Wen Gong Xia Zhan Wen-Jun Ji xue-Fan Gu Yong-Xing Chen Lian-Shu Han Department of Endocrinology and Metabolism Henan Key Laboratory of Children’s Genetics and Metabolic DiseasesChildren’s Hospital Affiliated to Zhengzhou UniversityHenan Children’s HospitalZhengzhou Children’s HospitalNo.255 Gangdu StreetZhengzhouChina Department of Pediatric Endocrinology and Genetics Fujian Children’s HospitalFuzhouChina The Center for Pediatric Liver Diseases Children’s HospitalFudan UniversityShanghaiChina Department of Pediatric Endocrinology/Genetics Shanghai Institute for Pediatric ResearchXinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityNo.1665 Kongjiang RoadShanghaiChina Department of Pediatrics Second Affiliated Hospital of Naval Medical UniversityShanghaiChina Center of Neonatal Disease Screening Jining Maternal and Child Health Care HospitalJiningChina Center of Neonatal Disease Screening Jinan Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Shijiazhuang Maternal and Child Health Care HospitalShijiazhuangChina Center of Neonatal Disease Screening Shandong Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Hefei Maternal and Child Health Care HospitalHefeiChina

Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese cases with CblC *** We carried out a national,retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G>A variant either in a homozygous or compound heterozygous *** control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G>A *** features,including disease onset,symptoms,biochemical metabolites,gene mutation,and follow-up outcomes were reviewed and analyzed in *** median follow-up period spanned 3 years and 8 months,with a range of 1 year and 2 months to 12 years and 10 *** Among 195 patients carrying the c.482G>A variant,125(64.1%)cases were diagnosed by newborn screening(NBS),60(30.8%)cases were detected due to disease onset,and 10(5.1%)cases were identified from sibling *** hundred and seventeen(93.6%)individuals who were diagnosed by NBS,and nine patients who came from sibling diagnoses remained asymptomatic in this *** 69 symptomatic patients of the c.482G>A group,more patients presented with later onset,and the top six common clinical symptoms at disease onset were developmental delay(59.4%),lower limb weakness and poor exercise tolerance(50.7%),cognitive decline(37.7%),gait instability and abnormal posture(36.2%),seizures(26.1%),and psychiatric and behavioral disturbances(24.6%).In the 159 symptomatic patients lacking c.482G>A variants,the most frequently observed clinical manifestations at disease onset included developmental delay(81.8%),lethargy and feeding difficulty(62.9%),lower limb weakness and poor exercise tolerance(54.7%),prolonged neonatal jaundice(51.6%),vomiting(47.2%),and seizures(32.7%).Before treatment,the levels of blood propionylcarnitine,propionylcarnitine/acetylcarnitine ratio

关键词： c.482G>A CblC disease MMACHC gene Newborn screening Outcome Use our pre-submission checklist Avoid common mistakes on your manuscript.

Hydraulic properties and drought response of a tropical bamboo (Cephalostachyum pergracile)

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Plant Diversity 2024年第3期46卷 406-415页

作者： Wanwalee Kongjarat Lu Han Amy Ny Aina Aritsara Shu-Bin Zhang Gao-juan Zhao Yong-Jiang Zhang Phisamai Maenpuen Ying-Mei Li Yi-Ke Zou Ming-Yi Li xue-Nan Li Lian-Bin Tao Ya-Jun Chen CAS Key Laboratory of Tropical Forest Ecology Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesYunnan 666303China University of the Chinese Academy of Sciences Beijing 100049China T-STAR Core Team Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesYunnan 666303China School of Biology and Ecology University of MaineOronoMEUSA Climate Change Institute University of MaineOronoME 04469USA School of Biological and Chemical Science Pu’er UniversityXueyuan RoadYunnan 665000China Institute of Ecology and Geobotany School of Ecology and Environmental SciencesYunnan UniversityKunmingYunnan 650091China School of Ecology and Environment Southwest Forestry UniversityKunmingYunnan 650224China Yuanjiang Savanna Ecosystem Research Station Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesYuanjiangYunnan 653300China

Bamboo plants are an essential component of tropical ecosystems,yet their vulnerability to climate extremes,such as drought,is poorly understood due to limited knowledge of their hydraulic *** pergracile,a commonly used tropical bamboo species,exhibited a substantially higher mortality rate than other co-occurring bamboos during a severe drought event in 2019,but the underlying mechanisms remain *** study investigated the leaf and stem hydraulic traits related to drought responses,including leaf-stem embolism resistance(P50leaf;P50stem) estimated using optical and X-ray microtomography methods,leaf pressure-volume and water-releasing ***,we investigated the seasonal water potentials,native embolism level(PLC) and xylem water source using stable *** found that *** exhibited strong resistance to embolism,showing low P50leaf,P50stem,and turgor loss point,despite its rapid leaf water ***,its leaves displayed greater resistance to embolism than its stem,suggesting a lack of effective hydraulic vulnerability segmentation(HVS) to protect the stem from excessive xylem *** the dry season,approximately 49% of the water was absorbed from the upper 20-cm-deep soil ***,significant diurnal variation in leaf water potentials and an increase in midday PLC from 5.87±2.33% in the wet season to 12.87±4.09%in the dry season were *** summary,this study demonstrated that the rapid leaf water loss,high reliance on surface water,and a lack of effective HVS in *** accelerated water depletion and increased xylem embolism even in the typical dry season,which may explain its high mortality rate during extreme drought events in 2019.

关键词： Climate change Drought Hydraulic safety Hydraulic vulnerability segmentation Stable isotope Tree mortality

Analysis of dominant phases inhibiting dissociation of smelting slags and the alkali depolymerization mechanism

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Rare Metals 2024年第11期 6068-6080页

作者： juan-Li Yuan Jing-Biao Liu Zhen Wu Xiang-Ying Lv Jian-Wei Du xue-Ming Liu Hong Deng Zhang Lin School of Environment and Energy Guangdong Provincial Key Laboratory of Solid Wastes Pollution Control and Resource RecyclingSouth China University of Technology School of Advanced Manufacturing School of Ocean Fuzhou University School of Ch emistry and Chemical Engineering Shandong University South China Institute of Environmental Science Ministry of Ecology and Environment College of Metallurgy and Environment Central South University

This study analyzed the prevalent physicochemical phases of smelting slag from the perspective of data science and *** delineated the silicate phase as the pivotal and predominant constraining phase for the resource utilization of smelting *** intricate correlation between metallic elements and dominant phases was *** silicate phase olivine（OL） was synthesized as a paradigm to examine alkali depolymerization,unveiling the optimal conditions for such depolymerization to be an alkali to olivine molar ratio of 1:5,a reaction temperature of 700℃,and a duration of 3 *** underlying mechanism of alkali depolymerization within silicate phases was elucidated under these *** reaction mechanism of alkali depolymerization within silicate phases can be encapsulated in three sequential steps:（1） NaOH dissociation and subsequent adsorption of OH-to cationic（Mg or Fe） sites;（2） disruption of cation-oxygen bonds,leading to the formation of hydroxide compounds,which then underwent oxidation;（3） Na+occupied the resultant cation vacancy sites,instigating further depolymerization of the intermediate Na2（Mg,Fe）*** articulated mechanism is anticipated to furnish theoretical underpinnings for the efficacious recuperation of metals from smelting slags.

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The “underfilled trinity model” of foreland basins revisited: reality or myth?

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Journal of Palaeogeography 2024年第04期 675-705页

作者： Xiu-Mian Hu Eduardo Garzanti juan Li Marcelle Bou Dagher-Fadel Giovanni Coletti An-Lin Ma Wen-Dong Liang Wei-Wei xue State Key Laboratory of Mineral Deposits Research Institute of Continental GeodynamicsSchool of Earth Sciences and EngineeringNanjing University Department of Earth and Environmental Sciences Universit a di Milano-Bicocca Department of Earth Sciences University College London

The “underfilled trinity” model of foreland-basin stratigraphy was proposed based on the observation that the initial sedimentary stages along the western and northern front of the western and central Alps were represented by shallow-water carbonates(Calcaires a Nummulites) overlain by hemipelagic marls(Marnes Bleues) and capped by siliciclastic turbidites(Gr es d'Annot). Subsequently, this model has been widely accepted and applied in foreland basins worldwide. We here re-investigated the Eocene-Oligocene sedimentary succession of the Western Alps to check its validity. Major geological features of this region include: i) the existence of a Cretaceous-Eocene unconformity spanning more than 25 Myr in the studied sections; ii) a virtually synchronous age of the Calcaires a Nummulites, Marnes Bleues, and Gr es d'Annot formations across the Western Alps; iii) a long-term deepening-upward trend, from inner to outer ramp,documented by the Calcaires a Nummulites, followed by the pelagic Marnes Bleues and by the Gr es d'Annot turbidites; iv) the provenance of the Gr es d'Annot Formation from the Maures-Est erel Massif and/or CorsicaSardinia block in the south, rather than from the Alpine orogen in the east. By integrating field observations,sedimentological, biostratigraphic, and provenance analyses, we found the Eocene “underfilled foreland”model too simplistic and inadequate to explain the basin evolution in the western Alpine region. Based on the alternative scenario proposed herein, the Annot and Barr^eme basins formed in the late Eocene(40-35 Ma) in an extensional/transtensional setting during a period of major change in tectonic stress fields across western Europe on the upper plate of the Apennine subduction.

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Altered spontaneous brain activity patterns in hypertensive retinopathy using fractional amplitude of low-frequency fluctuations:a functional magnetic resonance imaging study

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International Journal of Ophthalmology(English edition) 2024年第9期17卷 1665-1674页

作者： xue-Lin Wang Xu-Jun Zheng Li-juan Zhang Jin-Yu Hu Hong Wei Qian Ling Liang-Qi He Cheng Chen Yi-Xin Wang Xu Chen Yi Shao Department of Ophthalmology the First Affiliated Hospital of Jiangxi Medical CollegeEye Hospital of Shangrao CityShangrao 334000Jiangxi ProvinceChina Jiangxi Medical College Shangrao 334000Jiangxi ProvinceChina Department of Ophthalmology Shanghai General HospitalShanghai Jiao Tong University School of MedicineNational Clinical Research Center for Eye DiseasesShanghai Key Laboratory of Ocular Fundus DiseasesShanghai Engineering Center for Visual Science and PhotomedicineShanghai Engineering Center for Precise Diagnosis and Treatment of Eye DiseasesShanghai 200080China Department of Ophthalmology The First Affiliated Hospital of Nanchang UniversityNanchang 330006Jiangxi ProvinceChina School of Optometry and Vision Science Cardiff UniversityCardiff CF244HQWalesUK Ophthalmology Centre of Maastricht University Maastricht 6200MSLimburg ProvincieNetherlands

AIM:To study functional brain abnormalities in patients with hypertensive retinopathy(HR)and to discuss the pathophysiological mechanisms of HR by fractional amplitude of low-frequency fluctuations(fALFFs)***:Twenty HR patients and 20 healthy controls(HCs)were respectively *** age,gender,and educational background characteristics of the two groups were *** functional magnetic resonance imaging(fMRI)scanning,the subjects’spontaneous brain activity was evaluated with the fALFF *** operating characteristic(ROC)curve analysis was used to classify the ***,we used Pearson’s correlation analysis to explore the relationship between fALFF values in specific brain regions and clinical behaviors in patients with ***:The brain areas of the HR group with lower fALFF values than HCs were the right orbital part of the middle frontal gyrus(RO-MFG)and right lingual *** contrast,the values of fALFFs in the left middle temporal gyrus(MTG),left superior temporal pole(STP),left middle frontal gyrus(MFG),left superior marginal gyrus(SMG),left superior parietal lobule(SPL),and right supplementary motor area(SMA)were higher in the HR *** results of a t-test showed that the average values of fALFFs were statistically significantly different in the HR group and HC group(P<0.001).The fALFF values of the left middle frontal gyrus in HR patients were positively correlated with anxiety scores(r=0.9232;P<0.0001)and depression scores(r=0.9682;P<0.0001).CONCLUSION:fALFF values in multiple brain regions of HR patients are abnormal,suggesting that these brain regions in HR patients may be dysfunctional,which may help to reveal the pathophysiological mechanisms of HR.

关键词： hypertensive retinopathy fractional amplitude of low-frequency fluctuation brain region magnetic resonance imaging

Efficacy of Huangma Ding or autologous platelet-rich gel for the diabetic lower extremity arterial disease patients with foot ulcers

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World Journal of Diabetes 2024年第5期15卷 923-934页

作者： xue-Qin Wang Dan-Lan Pu Wei-Ling Leng Xiao-Tian Lei Jiang juan Zou La Ding Yao Jia-Zhuang Xi Li Jian Teng Miao Qi-Nan Wu Endocrinology Department The People’s Hospital of Yubei District of Chongqing CityChongqing 401120China Department of Endocrinology Chongqing Yubei District People’s HospitalChongqing 400030China Endocrinology Department The First Affiliated Hospital of the Army Medical UniversityChongqing 400038China Endocrinology and Nephrology Department Chongqing University Cancer Hospital and Chongqing Cancer Institute and Chongqing Cancer HospitalChongqing 400016China Department of Endocrinology Dazu Hospital of Chongqing Medical UniversityThe People’s Hospital of DazuChongqing 402360China

BACKGROUND Diabetes foot is one of the most serious complications of diabetes and an important cause of death and disability,traditional treatment has poor efficacy and there is an urgent need to develop a practical treatment *** To investigate whether Huangma Ding or autologous platelet-rich gel(APG)treatment would benefit diabetic lower extremity arterial disease(LEAD)patients with foot *** A total of 155 diabetic LEAD patients with foot ulcers were enrolled and divided into three groups:Group A(62 patients;basal treatment),Group B(38 patients;basal treatment and APG),and Group C(55 patients;basal treatment and Huangma Ding).All patients underwent routine follow-up visits for six *** follow-up,we calculated the changes in all variables from baseline and determined the differences between groups and the relationships between *** The infection status of the three groups before treatment was the ***(PCT)improved after APG and Huangma Ding treatment more than after traditional treatment and was significantly greater in Group C than in Group *** regression analysis revealed that PCT was positively correlated with total amputation,primary amputation,and minor amputation *** ankle-brachial pressure and the transcutaneous oxygen pressure in Groups B and C were greater than those in Group *** major amputation rate,minor amputation rate,and total amputation times in Groups B and C were lower than those in Group *** Our research indicated that diabetic foot ulcers(DFUs)lead to major amputation,minor amputation,and total amputation through local infection and poor microcirculation and *** Ding and APG were effective attreating *** clinical efficacy of Huangma Ding was better than that of autologous platelet gel,which may be related to the better control of local infection by Huangma *** finding suggested that in patients with DFUs combined with coinfection,controll

关键词： Diabetic foot ulcer Huangma Ding Autologous platelet-rich gel Ankle-brachial index Transcutaneous oxygen partial pressure

Stimulation of the posterodorsal amygdala suppresses estrogen receptor beta gene expression in the amygdala in female rats

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Stimulation of the posterodorsal amygdala suppresses estroge...

Dietary sodium deprivation evokes activation of brain regional neurons and down-regulation of AT1 and ACE mRNA expression

中国神经科学学会第四次会员代表大会暨第八届全国学术会议

作者： xue-juan yang,Jian-Qun YAN~*,Bo LU,Ke CHEN,Shi-Ru ZHAO,Bo SUN,Jin-Rong LI Department of Physiology and Pathophysiology,Xi''an Jiaotong University,School of Medicine,Xi''an,Shaanxi 710061,China

＜正＞Objective Our previous work shows that the posterodorsal amygdala plays an important role in the regulation of body weight and feeding behavior and electrical stimulation of this area decreases food intake in female rats,but the mechanisms are *** is known that the limbic-associated structures,including the amygdala and hypothalamus are major targets of estrogen action,and estrogen could act on hypothalamus to inhibit *** is unknown,however, whether the estrogen receptors（ERs） in the amygdala are also involved in the regulation of feeding and body weight,while robust ERs have been found ***,in the present study,the ER alpha and ER beta mRNA expressions in the amygdala and hypothalamus were investigated after electrical stimulation of the amygdala with the same stimulation parameters which were used in our previous work and could cause eating *** Nine female rats（control=5） got unilateral electrical stimulation（100μ,0.2ms,20Hz for 10 min） on the posterodorsal amygdala under *** hour later,the amygdala and the hypothalamus were separated and the gene expressions of ER alpha and ER beta were detected by real time *** Histology showed that five rats had stimulation located in the posterodorsal *** with control rats,amygdala stimulation significantly downregulated the gene expression of ER beta in the amygdala,with no effects on the genes expressions of ER alpha in the amygdala and hypothalamus and ER beta in the *** The present data suggest that ER beta in the amygdala may participate in the regulation of amygdaloid stimulation on food intake.

关键词： amygdala hypothalamus estrogen receptor gene expression

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Dietary sodium deprivation evokes activation of brain region...

Analysis of alkaline phosphatase and γ-glutamyltransferase after radiofrequency ablation of primary liver cancer: A retrospective study

中国神经科学学会第四次会员代表大会暨第八届全国学术会议

作者： Bo LU,xue-juan yang,Ke CHEN,De-Jun yang,Fu-Quan HUO,Jian-Qun YAN~* Department of Physiology and Pathophysiology,Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education,School of Medicine,Xi''an Jiaotong University,Xi''an,710061,China

＜正＞Objective Previous studies have indicated that the renin-angiotensin-aldosterone system（RAAS） is implicated in the induction of sodium appetite in rats and that different dietary sodium intakes influence the mRNA expression of central and peripheral RAAS *** present study is designed to determine whether dietary sodium deprivation activates regional brain neurons related to sodium appetite,and changes their gene expression of RAAS components of *** We examined the brain c-Fos expression after chronic exposure to low sodium diet,and determined the relationship between plasma and brain angiotensin I（ANG I）,angiotensinⅡ（ANGⅡ） and aldosterone（ALD） levels and the sodium ingestive behavior variations,as well as the effects of prolonged dietary sodium deprivation on ANGⅡtype 1 （AT1） and ANG II type 2（AT2） receptors and angiotensin-convertion enzyme（ACE） mRNA levels in the involved brain regions using the method of real-time *** Results showed that the Fos immunoreactivity（Fos-ir） expression in forebrain areas such as subfornical organ（SFO）,paraventricular hypothalamic nuclei（PVN）,supraoptic nucleus（SON） and organum vasculosum laminae terminalis（OVLT） all increased significantly and that the levels of ANGⅠ,ANGⅡand ALD also increased in plasma and forebrain in rats fed with low sodium *** contrast,AT1,ACE mRNA in PVN,SON and OVLT decreased significantly in dietary sodium depleted rats,while AT2 mRNA expression was not changed in the examined *** These results suggest that many brain areas are activated by increased levels of plasma and/ or brain ANG II and ALD,which underlies the elevated preference for hypertonic salt solution after prolonged exposure to low sodium diet,and that the regional AT1 and ACE mRNA are down-regulated after dietary sodium deprivation,which may be mediated by increased ANG II in plasma and/or brain tissue.

关键词： low sodium diet AT1 ACE c-Fos immunohistochemistry real-time quantitative PCR

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World Journal of Gastrointestinal Surgery 2024年第9期16卷 2860-2869页

作者： Wen-Yu Huang Sheng Zheng Dan Zhu Ying-Lang Zeng juan yang xue-Li Zeng Pei Liu Shun-Ling Zhang Ming Yuan Zhi-Xia Wang Department of Tumor and Vascular Interventional Therapy Xiamen Humanity HospitalXiamen 361000Fujian ProvinceChina Department of Gastroenterology The Third People's Hospital of Yunnan ProvinceKunming 650011Yunnan ProvinceChina Medical Imaging Center Qian Wei Hospital of Jilin ProvinceChangchun 130000Jilin ProvinceChina Department of Science and Education The Third People's Hospital of Yunnan ProvinceKunming 650011Yunnan ProvinceChina Graduate School of Clinical Medicine Dali UniversityDali 671000Yunnan ProvinceChina Department of Hepatobiliary Surgery Peking University Shenzhen HospitalShenzhen 518036Guangdong ProvinceChina Department of Oncology The Affiliated Shuyang Hospital of Xuzhou Medical UniversitySuqian 223600Jiangsu ProvinceChina

BACKGROUND Changes in alkaline phosphatase(ALP)andγ-glutamyltransferase(GGT)levels in patients with primary liver cancer(PLC)after radiofrequency ablation(RFA).Hepatocellular carcinoma is a malignant tumor with high incidence *** a common local treatment,RFA has attracted much attention for its efficacy and influence on liver *** To investigate the effect of serum ALP and GGT levels on the prognosis of patients with PLC treated by *** The preoperative clinical data of 165 patients who were pathologically or clinically diagnosed with PLC and who received RFA in our hospital between October 2018 and June 2023 were *** chi-square test was used to compare the data between *** Kaplan-Meier method and Cox regression were used to analyze the associ-ations between serum ALP and GGT levels and overall survival,progression-free survival(PFS)and clinical characteristics of patients before *** The 1-year survival rates of patients with normal(≤135 U/L)and abnormal(>135 U/L)serum ALP before treatment were 91%and 79%,respectively;the 2-year survival rates were 90%and 68%,respectively;and the 5-year survival rates were 35%and 18%,*** difference between the two groups was statistically significant(P=0.01).Before treatment,the 1-year survival rates of patients with normal serum GGT levels(≤45 U/L)and abnormal serum GGT levels(>45 U/L)were 95%and 87%,the 2-year survival rates were 85%and 71%,and the 5-year survival rates were 37%and 21%,*** difference between the two groups was statist-ically significant(P<0.001).Serum ALP[hazard ratio(HR)=1.766,95%confidence interval(95%CI):1.068-2.921,P=0.027]and GGT(HR=2.312,95%CI:1.367-3.912,P=0.002)is closely related to the overall survival of PLC patients after RF ablation and is an independent prognostic *** 1-year PFS rates were 72%and 50%,the 2-year PFS rates were 52%and 21%,and the 5-year PFS rates were 14%and 3%,*** difference between the

关键词： Alkaline phosphatase γ-glutamyltransferase Radiofrequency ablation Primary liver cancer Retrospective study