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Identification of two compound heterozygous GNRHR mutations in two siblings with congenital hypogonadotropic hypogonadism

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Asian Journal of Andrology 2024年第1期26卷 120-122页

作者： xiao-Bin Wang Ping Chen Xue-Er Yu Zu-Liang Yao Ting-Chao Guo Bo-Chen pan Center for Reproductive Medicine Department of Obstetrics and GynecologyShengjing Hospital of China Medical UniversityShenyang 110004China NuProbe Shanghai 200433China Urology Surgery of The Affiliated Reproductive Hospital of China Medical University and Liaoning Key Laboratory of Reproductive Health Liaoning Research Institute of Family Planning(The Affiliated Reproductive Hospital of China Medical University)Shenyang 110031China NHC Key Laboratory of Reproductive Health and Medical Genetics China Medical UniversityShenyang 110122China

DearEditor,Congenital hypogonadotropic hypogonadism(CHH)is a rare genetic disease characterized by gonadotropin-releasing hormone(GnRH)deficiency or insufficiency and normal hypothalamic-pituitary structures,resulting in defective sexual maturation or/and infertility.!CHH presents as a variety of nonreproductive phenotypes,such as renal hypoplasia,dental hypoplasia,or oculomotor abnormalities.

关键词： pogon compound ism

Effect of Jianpi Shengxue Tablet on Iron Metabolism and Nutritional Status in Patients with Renal Anemia:A Prospective,Randomized,Open,Parallel Controlled and Multicenter Clinical Study

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Current Medical Science 2024年第3期44卷 603-610页

作者： Juan YANG Meng-yuan LIANG Yu LI Hao ZHANG Wei LI Jing LV Li-ping DONG Jing-song JIN Cheng YANG Qing-hong ZHANG Li LONG rong ZOU Yi GAO Dan SONG Chun-qin pan Ying YAO xiao-lin ZHAN xiao-hui WANG Department of Nephrology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Department of Nephrology The First People’s Hospital of GuiyangGuiyang550000China Department of Nephrology The Third Xiangya HospitalCentral South UniversityChangsha410000China Department of Nephrology The First Affiliated Hospital of Xi’an Jiaotong UniversityXi’an710061China Department of Nephrology Wuhan No. 4 HospitalWuhan430033China Department of Nephrology Hubei Provincial Hospital of Traditional Chinese MedicineWuhan430060China Department of Nephrology Central Theater General Hospital of PLAWuhan430064China Department of Nephrology Taihe HospitalShiyan442000China Department of Nephrology Third People’s Hospital of Hubei ProvinceWuhan430033China Department of Nephrology Hubei Province Integrated Traditional Chinese and Western Medicine Hospital of Hubei provinceWuhan430024China Department of Nephrology Xi’an No.3 HospitalAffiliated Hospital of Northwest UniversityXi’an710000China Department of Nephrology Shenzhen Guangming District People’s HospitalShenzhen518000China Department of Nephrology Xiantao First People’s HospitalXiantao433000China Department of Nutrition Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Department of Nephrology Huangshi Central HospitalHuangshi435000China Department of Nephrology The Fifth Hospital of WuhanWuhan430050China

Objective This study aimed to analyze the clinical efficacy of the Jianpi Shengxue tablet for treating renal *** A total of 200 patients with renal anemia from December 2020 to December 2022 were enrolled and randomly divided into two *** in the control group were treated with polysaccharide-iron complex,and those in the experimental group were administered Jianpi Shengxue *** 8 weeks of continuous treatment,the therapeutic outcomes regarding anemia were compared between the two *** After treatment,the red blood cell(RBC)count,hematocrit(HCT),reticulocyte percentage(RET),ferritin(SF),serum iron(SI),transferrin saturation(TSAT),and serum albumin(ALB)all increased(P<0.01),and the clinical symptom score and total iron binding capacity decreased(P<0.01)in the experimental ***,the improvements in RBC,HCT,RET,SF,SI,TAST,ALB,and clinical symptoms(fatigue,anorexia,dull skin complexion,numbness of hands and feet)in the experimental group were significantly greater than those in the control group(P<0.05).The total effective rate for treating renal anemia was significantly higher in the experimental group than in the control group(P<0.01).Conclusion The Jianpi Shengxue tablet demonstrates efficacy in treating renal anemia,leading to significant improvements in the laboratory examination results and clinical symptoms of patients with renal anemia.

关键词： Jianpi Shengxue tablet renal anemia randomized open parallel control multicenter clinical study

Computed tomography-based radiomics combined with machine learning allows differentiation between primary intestinal lymphoma and Crohn's disease

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World Journal of Gastroenterology 2024年第25期30卷 3155-3165页

作者： Meng-Jun xiao Yu-Teng pan Jia-He Tan Hai-Ou Li Hai-Yan Wang Department of Radiology Shandong Provincial Hospital Affiliated to Shandong First Medical UniversityJinan 250021Shandong ProvinceChina Medical Science and Technology Innovation Center Shandong First Medical University&Shandong Academy of Medical SciencesJinan 250000Shandong ProvinceChina University of California DavisCA 95616United States Qilu Hospital Cheeloo College of MedicineShandong UniversityJinan 250012Shandong ProvinceChina

BACKGROUND Due to similar clinical manifestations and imaging signs,differential diagnosis of primary intestinal lymphoma(PIL)and Crohn's disease(CD)is a challenge in clinical *** To investigate the ability of radiomics combined with machine learning methods to differentiate PIL from *** We collected contrast-enhanced computed tomography(CECT)and clinical data from 120 patients form center 1.A total of 944 features were extracted singlephase images of CECT *** the last absolute shrinkage and selection operator model,the best predictive radiographic features and clinical indications were *** from 54 patients were collected at center 2 as an external validation set to verify the robustness of the *** area under the receiver operating characteristic curve,accuracy,sensitivity and specificity were used for *** A total of five machine learning models were built to distinguish PIL from *** on the results from the test group,most models performed well with a large area under the curve(AUC)(>0.850)and high accuracy(>0.900).The combined clinical and radiomics model(AUC=1.000,accuracy=1.000)was the best model among all *** Based on machine learning,a model combining clinical data with radiologic features was constructed that can effectively differentiate PIL from CD.

关键词： Primary intestinal lymphoma Crohn's disease Radiomics Machine learning Diagnosis

Optical multipath self-interference cancellation for a wideband in-band full-duplex system using a silicon photonic modulator chip

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Chinese Optics Letters 2024年第7期22卷 126-131页

作者： xiao Yu Jia Ye Lianshan Yan Tao Zhou Yue Zhu Peng Li Xihua Zou Wei pan Center for Information Photonics and Communications School of Information Science and TechnologySouthwest Jiaotong UniversityChengdu 611756China Key Laboratory of Electronic Information Control Southwest China Research Institute of Electronic EquipmentChengdu 610029China Microwave Photonics Research Laboratory School of Electrical Engineering and Computer ScienceUniversity of OttawaOttawaONK1N6N5Canada

We propose and experimentally demonstrate a photonic method for wideband multipath self-interference cancellation using a silicon photonic modulator *** chip generates phase-inverted reference signals by leveraging the opposite phase between optical *** managing amplitude and phase imbalances between self-interference and reference signals,the approach rectifies discrepancies through consistent chip manufacturing and packaging *** photonic multi-dimensional multiplexing,including wavelength and polarization,enables the acquisition of multiple reference *** results show multipath cancellation depths of 25.53 dB and 23.81 dB for bandwidths of 500 MHz and 1 GHz,achieved by superimposing 2-path reference signals.

关键词： microwave photonics multipath self-interference silicon photonics

Photocatalytic uranium extraction boosted by dual effective active sites of porphyrin metal-organic frameworks

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Nano Research 2024年第7期17卷 6713-6720页

作者： Jianming pan Bentian xiao Wei Zhu Yanan Yang Hongliang Huang Zichao Lian Tao Zhang Fengxian Qiu Songlin Xue Huan pang School of Chemistry and Chemical Engineering Jiangsu University301 Xuefu RoadZhenjiang 212013China Institute of Smart Liquid Crystal Technologies JITRI280 Huangpu Jiang RoadChangshu 215500China State key laboratory of Separation Membranes and Membrane Processes Tiangong UniversityTianjin 300387China School of Chemical Engineering and Technology Tiangong UniversityTianjin 300387China School of Materials and Chemistry University of Shanghai for Science and TechnologyShanghai 200093China School of Chemistry and Chemical Engineering Institute for Innovative Materials and EnergyYangzhou UniversityYangzhou 225002China

Porphyrinoid metal-organic frameworks(MOFs)with dual effective uranium uptake sites were synthesized through combined insitu and post-synthetic *** MOF10@5 demonstrates the uptake amount of uranium reaches 1476 mg/g under visiblelight *** PN-MOF10@5 with dual uranyl uptake sites yields the amount of extracting uranyl of 1590 mg/g under visible-light *** density functional theory(DFT)calculations reveal strong interaction between uranyl and dual uranyl effective active *** MOFs demonstrate a powerful synthesis strategy for uranium extraction materials with dual effective active sites.

关键词： photocatalytic uranium extraction metal-organic framework(MOF) dual active sites in-suit synthesis post-synthetic

ATP6AP2,a regulator of LRP6/β-catenin protein trafficking,promotes Wnt/β-catenin signaling and bone formation in a cell type dependent manner

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Bone Research 2024年第2期12卷 453-468页

作者： Lei Xiong Hao-Han Guo Jin-Xiu pan xiao Ren Daehoon Lee Li Chen Lin Mei Wen-Cheng Xiong Department of Neurosciences School of MedicineCase Western Reserve UniversityClevelandOH 44106USA Louis Stoke VA Medical Center ClevelandOH 44106USA

Wnt/β-catenin signaling is critical for various cellular processes in multiple cell types,including osteoblast(OB)differentiation and *** how Wnt/β-catenin signaling is regulated in OBs remain ***6AP2,an accessory subunit of V-ATPase,plays important roles in multiple cell types/organs and multiple signaling ***,little is known whether and how ATP6AP2 in OBs regulates Wnt/β-catenin signaling and bone *** we provide evidence for ATP6AP2 in the OB-lineage cells to promote OB-mediated bone formation and bone homeostasis selectively in the trabecular bone *** knocking out(CKO)ATP6AP2 in the OB-lineage cells(Atp6ap2^(Ocn-Cre))reduced trabecular,but not cortical,bone formation and bone *** and cellular biochemical studies revealed that LRP6 and N-cadherin were reduced in ATP6AP2-KO BMSCs and OBs,but not *** in vitro and in vivo studies revealed impairedβ-catenin signaling in ATP6AP2-KO BMSCs and OBs,but not osteocytes,under both basal and Wnt stimulated conditions,although LRP5 was decreased in ATP6AP2-KO osteocytes,but not *** cell biological studies uncovered that osteoblastic ATP6AP2 is not required for Wnt3a suppression ofβ-catenin phosphorylation,but necessary for LRP6/β-catenin and N-cadherin/β-catenin protein complex distribution at the cell membrane,thus preventing their *** of activeβ-catenin diminished the OB differentiation deficit in ATP6AP2-KO *** together,these results support the view for ATP6AP2 as a critical regulator of both LRP6 and N-cadherin protein trafficking and stability,and thus regulatingβ-catenin levels,demonstrating an un-recognized function of osteoblastic ATP6AP2 in promoting Wnt/LRP6/β-catenin signaling and trabecular bone formation.

关键词： LRP6 impaired organs

Azocalixarenes: a scaffold of universal excipients with high efficiency

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Science China Chemistry 2024年第5期67卷 1697-1706页

作者： Yu-Xin Yue Yi-Lin Lin Meng-Meng Chen Han-Wen Tian rong Ma Ze-Han Wang Fang-Yuan Chen Yu-Chen pan Dong-Sheng Guo College of Chemistry State Key Laboratory of Elemento-Organic ChemistryKey Laboratory of Functional Polymer Materials(Ministry of Education)Frontiers Science Center for New Organic MatterCollaborative Innovation Center of Chemical Science and Engineering(Tianjin)Nankai UniversityTianjin 300071China

Excipients are important components of pharmaceutical preparations that affect their quality, safety, and efficacy. Macrocyclic receptors are a family of supramolecular excipients with several advantages, including molecular-level protection, small sizes,fast kinetics of host-guest recognition, and modular construction. With the continuous advances in the medical field, personalized and precision medicine requires the development of excipients with low dosages, integrated modifying effects, universality,and controlled release. To meet these requirements, we have developed a new family of macrocyclic excipients based on calixarenes by integrating their covalent(broad chemical design space) and noncovalent(wide range of substrates) ***, azocalixarenes(Azo CAs) were designed, showing high binding affinities to a broad spectrum of active pharmaceutical ingredients(APIs), selectivity to interferents, and responsiveness to hypoxic microenvironments. Due to their highly efficient and controllable recognition, Azo CAs serve as low-dose excipients for 30 APIs. Molecular encapsulation by Azo CAs results in the integrated modification of the physicochemical properties of APIs, including solubility, stability, bioavailability,and biocompatibility. Moreover, Azo CAs can be reduced by azoreductases overexpressed in hypoxic microenvironments,leading to the controlled release of APIs. Collectively, Azo CA excipients have broad application prospects for a series of diseases such as enteritis, arthritis, stroke, cancer, bacterial infection and kidney injury, with diverse therapeutic modalities,including chemotherapy, photodynamic therapy, photothermal therapy, immunotherapy, boron neutron capture therapy, radiotherapy, fluorescence imaging, and their combinations.

关键词： supramolecular chemistry host-guest systems excipient calixarene molecular recognition

Predictive value of bilirubin and serum γ-glutamyltranspeptidase levels in type-2 diabetes mellitus patients with acute coronary syndrome

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World Journal of Diabetes 2024年第1期15卷 34-42页

作者： Jie Chen Wan-Chao Zhang xiao-Qiang Tang Ruo-Han Yin Tao Wang xiao-Yu Wei Chang-Jie pan Radiology Department The Affiliated Changzhou No.2 People's Hospital of Nanjing Medical UniversityChangzhou 213164Jiangsu ProvinceChina Radiology Department The People’s Hospital of WuQia CountyWuqia 845450Xinjiang Uygur Autonomous RegionChina

BACKGROUND Cardiovascular disease is a major complication of diabetes mellitus(DM).Type-2 DM(T2DM)is associated with an increased risk of cardiovascular events and mortality,while serum biomarkers may facilitate the prediction of these *** differential diagnosis of T2DM complicated with acute coronary syndrome(ACS)plays an important role in controlling disease progression and improving *** To investigate the correlation of serum bilirubin andγ-glutamyltranspeptidase(γ-GGT)with major adverse cardiovascular events(MACEs)in T2DM patients with *** The clinical data of inpatients from January 2022 to December 2022 were analyzed *** to different conditions,they were divided into the T2DM complicated with ACS group(T2DM+ACS,n=96),simple T2DM group(T2DM,n=85),and simple ACS group(ACS,n=90).The clinical data and laboratory indices were compared among the three groups,and the correlations of serum total bilirubin(TBIL)levels and serumγ-GGT levels with other indices were discussed.T2DM+ACS patients received a 90-day follow-up after discharge and were divided into event(n=15)and nonevent(n=81)groups according to the occurrence of MACEs;Univariate and multivariate analyses were further used to screen the independent influencing factors of MACEs in *** The T2DM+ACS group showed higherγ-GGT,total cholesterol,low-density lipoprotein cholesterol(LDL-C)and glycosylated hemoglobin(HbA1c)and lower TBIL and high-density lipoprotein cholesterol levels than the T2DM and ACS groups(P<0.05).Based on univariate analysis,the event and nonevent groups were significantly different in age(t=3.3612,P=0.0011),TBIL level(t=3.0742,P=0.0028),γ-GGT level(t=2.6887,P=0.0085),LDL-C level(t=2.0816,P=0.0401),HbA1c level(t=2.7862,P=0.0065)and left ventricular ejection fraction(LEVF)levels(t=3.2047,P=0.0018).Multivariate logistic regression analysis further identified that TBIL level and LEVF level were protective factor for MACEs,and age andγ-GGT

关键词： Acute coronary syndrome Type-2 diabetes mellitus Total bilirubin Major adverse cardiovascular events

Bilateral iridocorneal endothelial syndrome-Chandler’s syndrome:a case report and literature review

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International Journal of Ophthalmology(English edition) 2024年第4期17卷 773-776页

作者： xiao-Hua pan Yu-Fei Tao Ming-Min Yang xiao-Li Shen Jiao Si Ming Li Ning Fan Shenzhen Eye Hospital Jinan UniversityShenzhen 518040Guangdong ProvinceChina

Dear Editor,I ridocorneal endothelial syndrome(ICE)is a rare ocular disease first proposed by Eagle et al[1]in *** is mainly characterized by corneal endothelial abnormalities,accompanied by iris atrophy,iris pigmented nodules and peripheral anterior *** syndrome is typically unilateral,and classified into three clinical variants based on the changes of the cornea and iris,including progressive iris atrophy,Chandler’s syndrome,and Cogan-Reese syndrome.

关键词： corneal atrophy clinical