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C634Y mutation in RET-induced multiple endocrine neoplasia type 2A:A case report

World Journal of Clinical Cases 2024年第15期12卷 2627-2635页

作者： Hui-fen Zhang shu-ling Huang Wen-li Wang Yu-Qing Zhou Jun Jiang Zhuo-Jin Dai Department of Endocrinology Dongguan Hospital of Guangzhou University of Chinese MedicineDongguan 523003Guangdong ProvinceChina Department of Science and Technology Services Beijing Macro and Micro Test Co.Ltd.Beijing 100318China The First Clinical Medical College Guangdong Medical UniversityZhanjiang 524023Guangdong ProvinceChina

BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.

关键词： Multiple endocrine neoplasia type 2A Mutation RET proto-oncogene Medullary thyroid carcinoma Pheochromocytoma Case report

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A high li-ion diffusion kinetics in multidimensional and compact-structured electrodes via vacuum filtration casting

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Journal of Energy Chemistry 2024年第6期93卷 368-376,I0010页

作者： Jieqiong li Ting Ouyang Lu liu shu Jiang Yongchao Huang M.-Sadeeq Balogun College of Materials Science and Engineering Hunan Joint International Laboratory of Advanced Materials and Technology for Clean EnergyHunan UniversityChangsha 410082HunanChina Institute of Environmental Research at Greater Bay Key Laboratory for Water Quality and Conservation of the Pearl River DeltaMinistry of EducationGuangzhou UniversityGuangzhou 510006GuangdongChina

Manufacturing process,diffusion co-efficient and areal capacity are the three main criteria for regulating thick electrodes for lithium-ion batteries(liBs).However,simultaneously regulating these criteria for liBs is desirable but remains a significant challenge.In this work,niobium pentoxide(Nb_(2)O_(5))anode and lithium iron phosphate(liFePO_(4))cathode materials were chosen as the model materials and demonstrate that these three parameters can be simultaneously modulated by incorporation of micro-carbon fibers(MCF)and carbon nanotubes(CNT)with both Nb_(2)O_(5) and LFP via vacuum filtration approach.Both as-prepared MNC-20 anode and MLC-20 cathode achieves high reversible areal capacity of≈5.4 m A h cm^(-2)@0.1 C and outstanding li-ion diffusion coefficients of≈10~(-8)cm~2 s~(-1)in the half-cell configuration.The assembled MNC-20‖MLC-20 full cell liB delivers maximum energy and power densities of244.04 W h kg^(-1)and 108.86 W kg^(-1),respectively.The excellent electrochemical properties of the asprepared thick electrodes can be attributed to the highly conductive,mechanical compactness and multidimensional mutual effects of the MCF,CNT and active materials that facilitates rapid li-ion diffusion kinetics.Furthermore,electrochemical impedance spectroscopy(EIS),symmetric cells analysis,and insitu Raman techniques clearly validates the enhanced li-ion diffusion kinetics in the present architecture.

关键词： Thick electrodes Carbon nanotubes li-ion diffusion co-efficient Vacuum filtration technique High areal capacity lithium-ion batteries

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Photosynthetic response dynamics in the invasive species Tithonia diversifolia and two co-occurring native shrub species under fluctuating light conditions

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Plant Diversity 2024年第2期46卷 265-273页

作者： Ju li shu-Bin Zhang Yang-Ping li CAS Key Laboratory of Tropical Forest Ecology Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesMenglunMengla 666303YunnanChina University of Chinese Academy of Sciences Beijing 100049China

To determine the invasiveness of invasive plants,many studies have compared photosynthetic traits or strategies between invasive and native species.However,few studies have compared the photosynthetic dynamics between invasive and native species during light fluctuations.We compared photosynthetic induction,relaxation dynamics and leaf traits between the invasive species,Tithonia diversifolia and two native species,Clerodendrum bungei and Blumea balsamifera,in full-sun and shady habitats.The photosynthetic dynamics and leaf traits differed among species.T.diversifolia showed a slower induction speed and stomatal opening response but had higher average intrinsic water-use efficiency than the two native species in full-sun habitats.Thus,the slow induction response may be attributed to the longer stomatal length in T.diversifolia.Habitat had a significant effect on photosynthetic dynamics in T.diversifolia and B.balsamifera but not in C.bungei.In shady habitat,T.diversifolia had a faster photosynthetic induction response than in full-sun habitat,leading to a higher average stomatal conductance during photosynthetic induction in T.diversifolia than in the two native species.In contrast,B.balsamifera had a larger stomatal length and slower photosynthetic induction and relaxation response in shady habitat than in full-sun habitat,resulting in higher carbon gain during photosynthetic relaxation.Nevertheless,in both habitats,T.diversifolia had an overall higher carbon gain during light fluctuations than the two native species.Our results indicated that T.diversifolia can adopt more effective response strategies under fluctuating light environments to maximize carbon gain,which may contribute to its successful invasion.

关键词： Invasive plant Photosynthetic induction Photosynthetic relaxation Carbon gain Stomatal traits Tithonia diversifolia

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Efficacy of physiological seawater nasal irrigation for the treatment of children with SARS-CoV-2 Omicron BA.2 variant infection:a randomized controlled trial

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World Journal of Pediatrics 2024年第5期20卷 461-469页

作者： Ji-Lei lin fen Zhang Yan-Bo li shu-Hua Yuan Jin-Hong Wu Jing Zhang Lei Zhang Yi He Jie Chen Yong Yin Department of Respiratory Medicine Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong University1678 Dongfang RoadPudong DistrictShanghaiChina University of British Columbia VancouverCanada Information Technology Department Shanghai Children’s Medical Center National Children’s Medical CenterSchool of MedicineShanghai Jiao Tong University1678 Dongfang RoadPudong DistrictShanghaiChina Department of Otorhinolaryngology Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong University1678 Dongfang RoadPudong DistrictShanghaiChina Department of Respiratory Medicine Sanya Women and Children’s Hospital Affiliated to Hainan Medical CollegeHainan Branch of Shanghai Children’s Medical CenterSanyaChina Department of Respiratory Medicine Linyi Maternal and Child Healthcare HospitalLinyiChina Shanghai Children’s Medical Center Pediatric Medical Complex(Pudong) ShanghaiChina Pediatric AI Clinical Application and Research Center Shanghai Children’s Medical CenterShanghaiChina

Background Saline nasal irrigation is an effective therapy for relieving common cold symptoms.This study aimed to investigate and explore the efficacy of physiological seawater nasal irrigation(PSNI)on children with mild and asymptomatic infection with Omicron.Methods This randomized controlled trial was conducted in Shanghai,China,and 403 children with mild and asymptomatic infection with Omicron were included.These children were allocated into the PSNI group and the control group.The primary outcome was the duration of viral shedding(DVS),and the secondary outcome was the change in clinical symptoms.Results The median age of all participants was 5.59(6.26)years old.The DVS was significantly shorter in the PSNI group[2.40(1.13)]than in the control group[3.09(2.14)](P=0.014).The multivariable Cox regression model also showed that patients in the PSNI group had an increased probability of shorter DVS compared with patients in the control group[hazard ratio(HR),1.27;95%confidence interval(CI),1.04–1.55;P=0.017].Subgroup analysis suggested that the DVS of patients without full vaccination was significantly reduced in the PSNI group.The proportions of runny nose and stuffy nose were apparently reduced in the first three days in the PSNI group or the control group,but there was no evidence showing that PSNI contributes to the benefit compared with the control group.Conclusion PSNI can reduce the DVS of patients with mild and asymptomatic infection with SARS-CoV-2 Omicron BA.2 variant.

关键词： Children Duration of viral shedding Omicron Physiological seawater nasal irrigation

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Palladium-catalyzed multi components oxy-aminofluorination and aminofluorination of gem-difluoroalkenes

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Chinese Chemical Letters 2024年第2期35卷 420-425页

作者： fen Wu Xin li Junbiao Chang Dachang Bai State Key Laboratory of Antiviral Drugs NMPA Key Laboratory for Research and Evaluation of Innovative DrugKey Laboratory of Green Chemical Media and ReactionsMinistry of EducationSchool of Chemistry and Chemical EngineeringPingyuan LaboratoryHenan Normal UniversityXinxiang 453007China State Key Laboratory of Organometallic Chemistry Shanghai Institute of Organic ChemistryChinese Academy of SciencesShanghai 200032China

Organofluorine compounds are widely used in the realm of drug discovery and material science.Herein,we developed palladium catalyzed intermolecular aminofluorination and oxy-aminofluorination of gem‑difluoroalkenes with N-fluorobenzenesulfonimide(NFSI),in which NFSI was used as the nitrogen source and oxidant.The reaction provides an efficient and straightforward synthesis route of a series ofα-trifluoromethyl benzylic amines.Notably,three/four components oxy-aminofluorination processes were realized to giveα-trifluoromethyl benzylic ether with a terminal amino group,which proceed through C(sp^(3))-O bond cleavage of easily available ether and simultaneous introduced a fluorine,an amino and an oxy substituent in one pot with excellent regioselectivity.The divergent reactivity not only included the incorporation of one ether molecular,but also much more challenged two ether insertion with excellent selectivity through succession C(sp^(3))-O bonds cleavage.This protocol allows for concise synthesis of high value amines with fluoroalkyl-substituents and selectively transformation of easily available ethers by high-valent palladium catalysis.

关键词： Palladium Multi components Aminofluorination Oxy-aminofluorination C(sp^(3))-O bond cleavage

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Neuroendocrine carcinoma of the common hepatic duct coexisting with distal cholangiocarcinoma:A case report and review of literature

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World Journal of Gastrointestinal Surgery 2024年第5期16卷 1449-1460页

作者： Fei Chen Wei-Wei li Juan-fen Mo Min-Jie Chen Su-Hang Wang shu-Ying Yang Zheng-Wei Song Department of Hepatobiliary Surgery The Second Affiliated Hospital of Jiaxing UniversityJiaxing 314000Zhejiang ProvinceChina Graduate School Bengbu Medical CollegeBengbu 233000Anhui ProvinceChina The Key Laboratory The Second Affiliated Hospital of Jiaxing UniversityJiaxing 314000Zhejiang ProvinceChina Department of Pathology The Second Affiliated Hospital of Jiaxing UniversityJiaxing 314000Zhejiang ProvinceChina Department of Intensive Medicine The Second Affiliated Hospital of Jiaxing UniversityJiaxing 314000Zhejiang ProvinceChina

BACKGROUND Neuroendocrine carcinoma(NEC)of the extrahepatic bile duct is very rare,and the treatment and prognosis are unclear.Herein,we report the case of a middleaged female with primary large cell NEC(LCNEC)of the common hepatic duct combined with distal cholangiocarcinoma(dCCA).Additionally,after a review of the relevant literature,we summarize and compare mixed neuroendocrine-nonneuroendocrine neoplasm(MiNEN)and pure NEC to provide a reference for selecting the appropriate treatment and predicting the prognosis of this rare disease.CASE SUMMARY A 62-year-old female presented to the hospital due to recurrent abdominal pain for 2 months.Physical examination showed mild tenderness in the upper abdomen and a positive Courvoisier sign.Blood tests showed elevated liver transaminase and carbohydrate antigen 199 levels.Imaging examination revealed node dissection was performed,and hepatic duct tumours were unexpectedly found during surgery.Pathology suggested poorly differentiated LCNEC(approximately 0.5 cm×0.5 cm×0.4 cm),Ki-67(50%),synaptophysin+,and chromogranin A+.dCCA pathology suggested moderately differentiated adenocarcinoma.The patient eventually developed lymph node metastasis in the liver,bone,peritoneum,and abdominal cavity and died 24 months after surgery.Gene sequencing methods were used to compare gene mutations in the two primary bile duct tumours.CONCLUSION The prognosis of MiNEN and pure NEC alone is different,and the selection of treatment options needs to be differentiated.

关键词： Neuroendocrine carcinoma Mixed neuroendocrine-non-neuroendocrine neoplasm Cholangiocarcinoma Extrahepatic bile duct Case report

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Non-alcoholic fatty liver disease and sleep disorders

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World Journal of Hepatology 2024年第3期16卷 304-315页

作者： Lu-Fang Bu Chong-Yu Xiong Jie-Yi Zhong Yan Xiong Dong-Ming li fen-Fang Hong shu-Long Yang Department of Physiology Fuzhou Medical CollegeNanchang UniversityFuzhou 344000Jiangxi ProvinceChina Key Laboratory of Chronic Diseases Fuzhou Medical UniversityFuzhou 344000Jiangxi ProvinceChina Technology Innovation Center of Chronic Disease Research in Fuzhou City Fuzhou Science and Technology BureauFuzhou 344000Jiangxi ProvinceChina Experimental Center of Pathogen Biology College of MedicineNanchang UniversityNanchang 330006Jiangxi ProvinceChina

Studies have shown that non-alcoholic fatty liver disease(NAFLD)may be associated with sleep disorders.In order to explore the explicit relationship between the two,we systematically reviewed the effects of sleep disorders,especially obstructive sleep apnea(OSA),on the incidence of NAFLD,and analyzed the possible mechanisms after adjusting for confounding factors.NAFLD is independently associated with sleep disorders.Different sleep disorders may be the cause of the onset and aggravation of NAFLD.An excessive or insufficient sleep duration,poor sleep quality,insomnia,sleep-wake disorders,and OSA may increase the incidence of NAFLD.Despite that some research suggests a unidirectional causal link between the two,specifically,the onset of NAFLD is identified as a result of changes in sleep characteristics,and the reverse relationship does not hold true.Nevertheless,there is still a lack of specific research elucidating the reasons behind the higher risk of developing sleep disorders in individuals with NAFLD.Further research is needed to establish a clear relationship between NAFLD and sleep disorders.This will lay the groundwork for earlier identification of potential patients,which is crucial for earlier monitoring,diagnosis,effective prevention,and treatment of NAFLD.

关键词： Non-alcoholic fatty liver disease Sleep duration Sleep quality Sleep disorders Obstructive sleep apnea

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OSMR is a potential driver of inflammation in amyotrophic lateral sclerosis

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Neural Regeneration Research 2024年第11期19卷 2513-2521页

作者： Wenzhi Chen Shishi Jiang shu li Cheng li Renshi Xu Department of Neurology Jiangxi Provincial People’s HospitalXiangya Hospital Jiangxi Hospital of Central South UniversityThe Clinical College of Nanchang Medical CollegeThe First Affiliated Hospital of Nanchang Medical CollegeNanchangJiangxi ProvinceChina

Amyotrophic lateral sclerosis is a neurodegenerative disease,and the molecular mechanism underlying its pathology remains poorly understood.However,inflammation is known to play an important role in the development of this condition.To identify driver genes that affect the inflammatory response in amyotrophic lateral sclerosis,as well as potential treatment targets,it is crucial to analyze brain tissue samples from patients with both sporadic amyotrophic lateral sclerosis and C9orf72-related amyotrophic lateral sclerosis.Therefore,in this study we used a network-driven gene analysis tool,NetBID2.0,which is based on SJARACNe,a scalable algorithm for the reconstruction of accurate cellular networks,to experimentally analyze sequencing data from patients with sporadic amyotrophic lateral sclerosis.The results showed that the OSMR gene is pathogenic in amyotrophic lateral sclerosis and participates in the progression of amyotrophic lateral sclerosis by mediating the neuroinflammatory response.Furthermore,there were differences in OSMR activity and expression between patients with sporadic amyotrophic lateral sclerosis and those with C9orf72-related amyotrophic lateral sclerosis.These findings suggest that OSMR may be a diagnostic and prognostic marker for amyotrophic lateral sclerosis.

关键词： amyotrophic lateral sclerosis driver neuroinflammation OSMR C9ORF72 neurodegenerative disease pathogenesis oxidative stress protein misfolding mitochondrial dysfunction

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The dawn−dusk asymmetry in mesosphere and lower thermosphere temperature disturbances during geomagnetic storms at high latitude

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Earth and Planetary Physics 2024年第2期8卷 356-367页

作者： GuanChun Wei JianYong Lu fen Tang JingYuan li Meng Sun Institute of Space Weather School of Atmospheric PhysicsNanjing University of Information Science&TechnologyNanjing 210044China College of Information and Communication National University of Defense TechnologyWuhan 430019China

Utilizing observations by the Sounding of the Atmosphere using Broadband Emission Radiometry(SABER)instrument,we quantitatively assessed the dawn-dusk asymmetry in temperature disturbances within the high-latitude mesosphere and lower thermosphere(MLT)during the main phase of geomagnetic storms in this study.An analysis of five geomagnetic superstorm events indicated that during the main phase,negative temperature disturbances were more prevalent on the dawn side than on the dusk side in the high-latitude MLT region.Results of a statistical analysis of 54 geomagnetic storm events also revealed a notable disparity in temperature disturbances between the dawn and dusk sides.At high latitudes,38.2%of the observational points on the dawn side exhibited negative temperature disturbances(less than−5 K),whereas on the dusk side,this percentage was only 29.5%.In contrast,at mid-latitudes,these proportions were 34.1%and 36.5%,respectively,showing no significant difference.We also conducted a statistical analysis of temperature disturbances at different altitudes,which revealed an increase in the proportion of warming disturbances with altitude.Conversely,the proportion of cooling disturbances initially rose with altitude,reaching a peak around 105 km,and subsequently decreased.These temperature disturbance differences could be explained by the day-night asymmetry in vertical wind disturbances during storm conditions.

关键词： dawn dusk asymmetry SABER(Sounding of the Atmosphere using Broadband Emission Radiometry) geomagnetic storms mesosphere and lower thermosphere

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Plant-based dietary patterns and risk of esophageal cancer:A prospective cohort study spanning 17 years

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Chinese Journal of Cancer Research 2024年第1期36卷 36-45页

作者： Xiaorui Zhang Feifan He Jiayue li Ru Chen Xinqing li li li fen liu Shaoming Wang Wenqiang Wei Department of Epidemiology and Health Statistics School of Public HealthBeijing Municipal Key Laboratory of Clinical EpidemiologyCapital Medical UniversityBeijing 100069China National Central Cancer Registry office National Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China Department of Cancer Epidemiology National Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China

Objective: Plant-based diets have multiple health benefits for cancers;however, little is known about the association between plant-based dietary patterns and esophageal cancer(EC).This study presents an investigation of the prospective associations among three predefined indices of plant-based dietary patterns and the risk of EC.Methods: We performed endoscopic screening for 15,709 participants aged 40-69 years from two high-risk areas of China from January 2005 to December 2009 and followed the cohort until December 31, 2022. The overall plant-based diet index(PDI), healthful plant-based diet index(h PDI), and unhealthful plant-based diet index(u PDI), were calculated using survey responses to assess dietary patterns. We applied Cox proportional hazard regression to estimate the multivariable hazard ratios(HRs) and 95% confidence intervals(95% CIs) of EC across 3plant-based diet indices and further stratified the analysis by subgroups.Results: The final study sample included 15,184 participants in the cohort. During a follow-up of 219,365person-years, 176 patients with EC were identified. When the highest quartile was compared with the lowest quartile, the pooled multivariable-adjusted HR of EC was 0.50(95% CI, 0.32-0.77) for h PDI. In addition, the HR per 10-point increase in the h PDI score was 0.42(95% CI, 0.27-0.66) for ECs. Conversely, u PDI was positively associated with the risk of EC, and the HR was 1.80(95% CI, 1.16-2.82). The HR per 10-point increase in the u PDI score was 1.90(95% CI, 1.26-2.88) for ECs. The associations between these scores and the risk of EC were consistent in most subgroups. These results remained robust in sensitivity analyses.Conclusions: A healthy plant-based dietary pattern was associated with a reduced risk of EC. Emphasizing the healthiness and quality of plant-based diets may be important for preventing the development of EC.

关键词： Esophageal cancer diet dietary pattern epidemiology nutrition prospective cohort study

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