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Ileal collision tumor associated with gastrointestinal bleeding: A case report and review of literature

World Journal of Gastrointestinal Surgery 2024年第2期16卷 628-634页

作者： Yu-Qi Wu Hong-Yan Wang Mu-Min Shao Lin Xu Xiao-Yan Jiang Shao-Ju Guo Department of Gastroenterology Shenzhen Traditional Chinese Medicine HospitalThe Fourth Clinical Medical College of Guangzhou University of Chinese MedicineShenzhen 518033Guangdong ProvinceChina Department of Pathology Shenzhen Traditional Chinese Medicine HospitalThe Fourth Clinical Medical College of Guangzhou University of Chinese MedicineShenzhen 518033Guangdong ProvinceChina

BACKGROUND Collision tumors involving the small intestine,specifically the combination of a hamartomatous tumor and a lipoma,are extremely rare.To our knowledge,no previous case report has described a collision tumor composed of two benign tumors of different origins in the small intestine.CASE SUMMARY Here,we present the case of an 82-year-old woman who presented with hemorrhagic shock and was found to have a mass measuring approximately 50 mm×32 mm×30 mm in the terminal ileum.Based on computed tomography scan findings,the mass was initially suspected to be a lipoma.A subsequent colonoscopy revealed a pedunculated submucosal elevation consisting of two distinct parts with a visible demarcation line.A biopsy of the upper portion suggested a juvenile polyp(JP).Owing to the patient’s advanced age,multiple comorbidities,and poor surgical tolerance,a modified endoscopic submucosal dissection was performed.Histopathological examination of the excised mucosal mass revealed a lipoma at the base and a JP at the top,demonstrating evidence of rupture and associated bleeding.The patient’s overall health remained satisfactory,with no recurrence of hematochezia during the six-month follow-up period.CONCLUSION This case report provides new evidence for the understanding of gastrointestinal collision tumors,emphasizing their diverse clinical presentations and histopathological characteristics.It also offers diagnostic and therapeutic insights as well as an approach for managing benign collision tumors.

关键词： Collision tumor Gastrointestinal bleeding Hamartomatous tumor Lipoma Modified endoscopic submucosal dissection Case report

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Bibliometric analysis of hotspots and trends of global myopia research

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International Journal of Ophthalmology(English edition) 2024年第5期17卷 940-950页

作者： Xing-Yang Wu Hui-Hui Fang Yan-Wu Xu Yan-Ling Zhang Shao-Chong Zhang Wei-Hua Yang shenzhen Eye Institute Shenzhen Eye HospitalJinan UniversityShenzhen 518040Guangdong ProvinceChina School of Future Technology South China University of TechnologyGuangzhou 510641Guangdong ProvinceChina

AIM:To gain insights into the global research hotspots and trends of myopia.METHODS:Articles were downloaded from January 1,2013 to December 31,2022 from the Science Core Database website and were mainly statistically analyzed by bibliometrics software.RESULTS:A total of 444 institutions in 87 countries published 4124 articles.Between 2013 and 2022,China had the highest number of publications(n=1865)and the highest H-index(61).Sun Yat-sen University had the highest number of publications(n=229)and the highest H-index(33).Ophthalmology is the main category in related journals.Citations from 2020 to 2022 highlight keywords of options and reference,child health(pediatrics),myopic traction mechanism,public health,and machine learning,which represent research frontiers.CONCLUSION:Myopia has become a hot research field.China and Chinese institutions have the strongest academic influence in the field from 2013 to 2022.The main driver of myopic research is still medical or ophthalmologists.This study highlights the importance of public health in addressing the global rise in myopia,especially its impact on children’s health.At present,a unified theoretical system is still needed.Accurate surgical and therapeutic solutions must be proposed for people with different characteristics to manage and intervene refractive errors.In addition,the benefits of artificial intelligence(AI)models are also reflected in disease monitoring and prediction.

关键词： bibliometric analysis myopia global trends

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Intelligent diagnosis of retinal vein occlusion based on color fundus photographs

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 1-6页

作者： Yu-Ke Ji Rong-Rong Hua Sha Liu Cui-Juan Xie Shao-Chong Zhang Wei-Hua Yang Eye Hospital Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina College of Electronic Information Engineering Nanjing University of Aeronautics and AstronauticsNanjing 210000Jiangsu ProvinceChina shenzhen Eye Institute Shenzhen Eye HospitalJinan UniversityShenzhen 518000Guangdong ProvinceChina

AIM:To develop an artificial intelligence(AI)diagnosis model based on deep learning(DL)algorithm to diagnose different types of retinal vein occlusion(RVO)by recognizing color fundus photographs(CFPs).METHODS:Totally 914 CFPs of healthy people and patients with RVO were collected as experimental data sets,and used to train,verify and test the diagnostic model of RVO.All the images were divided into four categories[normal,central retinal vein occlusion(CRVO),branch retinal vein occlusion(BRVO),and macular retinal vein occlusion(MRVO)]by three fundus disease experts.Swin Transformer was used to build the RVO diagnosis model,and different types of RVO diagnosis experiments were conducted.The model’s performance was compared to that of the experts.RESULTS:The accuracy of the model in the diagnosis of normal,CRVO,BRVO,and MRVO reached 1.000,0.978,0.957,and 0.978;the specificity reached 1.000,0.986,0.982,and 0.976;the sensitivity reached 1.000,0.955,0.917,and 1.000;the F1-Sore reached 1.000,0.9550.943,and 0.887 respectively.In addition,the area under curve of normal,CRVO,BRVO,and MRVO diagnosed by the diagnostic model were 1.000,0.900,0.959 and 0.970,respectively.The diagnostic results were highly consistent with those of fundus disease experts,and the diagnostic performance was superior.CONCLUSION:The diagnostic model developed in this study can well diagnose different types of RVO,effectively relieve the work pressure of clinicians,and provide help for the follow-up clinical diagnosis and treatment of RVO patients.

关键词： deep learning artificial intelligence Swin Transformer diagnostic model retinal vein occlusion color fundus photographs

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HCSP-Net:A Novel Model of Age-Related Macular Degeneration Classification Based on Color Fundus Photography

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Computers, Materials & Continua 2024年第4期79卷 391-407页

作者： Cheng Wan Jiani Zhao Xiangqian Hong Weihua Yang Shaochong Zhang College of Electronic and Information Engineering/College of Integrated Circuits Nanjing University of Aeronautics and AstronauticsNanjing211106China shenzhen Eye Institute Shenzhen Eye HospitalJinan UniversityShenzhen518040China

Age-related macular degeneration(AMD)ranks third among the most common causes of blindness.As the most conventional and direct method for identifying AMD,color fundus photography has become prominent owing to its consistency,ease of use,and good quality in extensive clinical practice.In this study,a convolutional neural network(CSPDarknet53)was combined with a transformer to construct a new hybrid model,HCSP-Net.This hybrid model was employed to tri-classify color fundus photography into the normal macula(NM),dry macular degeneration(DMD),and wet macular degeneration(WMD)based on clinical classification manifestations,thus identifying and resolving AMD as early as possible with color fundus photography.To further enhance the performance of this model,grouped convolution was introduced in this study without significantly increasing the number of parameters.HCSP-Net was validated using an independent test set.The average precision of HCSPNet in the diagnosis of AMD was 99.2%,the recall rate was 98.2%,the F1-Score was 98.7%,the PPV(positive predictive value)was 99.2%,and the NPV(negative predictive value)was 99.6%.Moreover,a knowledge distillation approach was also adopted to develop a lightweight student network(SCSP-Net).The experimental results revealed a noteworthy enhancement in the accuracy of SCSP-Net,rising from 94%to 97%,while remarkably reducing the parameter count to a quarter of HCSP-Net.This attribute positions SCSP-Net as a highly suitable candidate for the deployment of resource-constrained devices,which may provide ophthalmologists with an efficient tool for diagnosing AMD.

关键词： Computer-aided diagnosis deep learning age-related macular degeneration transformer

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Perfluorinated iodine alkanes promote the differentiation of mouse embryonic stem cells by regulating estrogen receptor signaling

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Journal of Environmental Sciences 2024年第3期137卷 443-454页

作者： Zhihua Ren Xiaoxi Yang Tingting Ku Qian S.Liu Jiefeng Liang Qunfang Zhou Francesco Faiola Guibin Jiang State Key Laboratory of Environmental Chemistry and Ecotoxicology Research Center for Eco-Environmental SciencesChinese Academy of SciencesBeijing 100085China College of Resources and Environment University of Chinese Academy of SciencesBeijing 100049China College of Environment and Resource Research Center of Environment and HealthShanxi UniversityTaiyuan 030006China College of Sino-Danish University of Chinese Academy of SciencesBeijing 100049China

Investigating the development toxicity of perfuorinated iodine alkanes(PFIs)is critical,given their estrogenic effects through binding with estrogen receptors(ERs).In the present study,two PFIs,including dodecafuoro-1,6-diiodohexane(PFHx DI)and tridecafuorohexyl iodide(PFHx I),with binding preference to ERαand ERβ,respectively,were selected to evaluate their effects on proliferation and differentiation of the mouse embryonic stem cells(m ESCs).The results revealed that,similar to E_(2),50μmol/L PFHx DI accelerated the cell proliferation of the m ESCs.The PFI stimulation at the exposure concentrations of 2–50μmol/L promoted the differentiation of the m ESCs as characterized by the upregulation of differentiation-related biomarkers(i.e.,Otx2 and Dnmt3β)and downregulation of pluripotency genes(i.e.,Oct4,Nanog,Sox2,Prdm14 and Rex1).Comparatively,PFHx DI exhibited higher induction effect on the differentiation of the m ESCs than did PFHx I.The tests on ER signaling indicated that both PFI compounds induced exposure concentration-dependent expressions of ER signaling-related biomarkers(i.e.,ERα,ERβand Caveolin-1)in the m ESCs,and the downstream ER responsive genes(i.e.,c-fos,c-myc and c-jun)well responded to PFHx I stimulation.The role of ER in PFI-induced effects on the m ESCs was further validated by the antagonistic experiments using an ER inhibitor(ICI).The findings demonstrated that PFIs triggered ER signaling,and perturbed the differentiation program of the m ESCs,causing the potential health risk during early stage of development.

关键词： Perfuorinated iodine alkanes(PFIs) Embryonic stem cells(ESCs) Developmental toxicity Cell differentiation Estrogen receptor-related signaling

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Cancer profiles in China and comparisons with the USA:a comprehensive analysis in the incidence,mortality,survival,staging,and attribution to risk factors

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Science China(Life Sciences) 2024年第1期67卷 122-131页

作者： Siyi He Changfa Xia He Li Maomao Cao Fan Yang Xinxin Yan Shaoli Zhang Yi Teng Qianru Li Wanqing Chen Office of Cancer Screening National Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China

China faces a disproportionate cancer burden to the population size and is undergoing a transition in the cancer spectrum.We extracted data in five aspects of cancer incidence,mortality,survival,staging distributions,and attribution to risk factors in China,the USA and worldwide from open-source databases.We conducted a comprehensive secondary analysis of cancer profiles in China in the above aspects,and compared cancer statistics between China and the USA.A total of 4,546,400 new cancer cases and 2,992,600 deaths occurred in China in 2020,accounting for 25.1%and 30.2%of global cases,respectively.Lifestyle-related cancers including lung cancer,colorectal cancer,and breast cancer showed an upward trend and have been the leading cancer types in China.41.6%of new cancer cases and 49.3%of cancer deaths occurred in digestive-system cancers in China,and the cancers of esophagus,nasopharynx,liver,and stomach in China accounted for over 40%of global cases.Infection-related cancers showed the highest population-attributable fractions among Chinese adults,and most cancers could be attributed to behavioral and metabolic factors.The proportions of stage I for most cancer types were much higher in the USA than in China,except for esophageal cancer(78.2%vs.41.1%).The 5-year relative survival rates in China have improved substantially during 2000–2014,whereas survival for most cancer types in the USA was significantly higher than in China,except for upper gastrointestinal cancers.Our findings suggest that although substantial progress has been made in cancer control,especially in digestive system cancers in China,there was still a considerable disparity in cancer burden between China and the USA.More robust policies on risk factors and standardized screening practices are urgently warranted to curb the cancer growth and improve the prognosis for cancer patients.

关键词： cancer burden survival rate neoplasm staging risk factors China

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New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 107-112页

作者： Wen-Chao Cao Qing-Shan Chen Run Gan Tao Huang Xiao-He Yan The Second Clinical Medical College Jinan UniversityShenzhen 518040Guangdong ProvinceChina shenzhen Eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChin

AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy.Targeted sequence capture array technique was used to screen potential pathologic variants.Polymerase chain reaction and Sanger sequencing were used to confirm the screening results.RESULTS:Fundus examination showed round macular lesions appeared in both eyes.Optical coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right eye.Fundus autofluorescence showed patchy hyper-autofluorescence in the macula.Visual field examination indicates central defects in both eyes.Electroretinogram(ERG)and multifocal ERG showed no obvious abnormalities.Fundus fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left eye.We found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous variants.Both variants are likely pathogenic according to the ACMG criteria.Multimodal imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal disorders.CONCLUSION:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy.

关键词： maculopathy recessive compound heterozygous variants RP1L1

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RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review

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International Journal of Ophthalmology(English edition) 2024年第2期17卷 311-316页

作者： Jin Li Yi-Qun Hu Hong-Bo Cheng Ting Wang Long-Hao Kuang Tao Huang Xiao-He Yan shenzhen Eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina

AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.METHODS:The patient underwent a complete ophthalmologic examination including best-corrected visual acuity,anterior segment and dilated fundus,visual field,spectral-domain optical coherence tomography(OCT)and electroretinogram(ERG).The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the result.Then we reviewed the characteristics of the patients reported with the same variant.RESULTS:A 30-year male presented with severe early retinal degeneration who complained night blindness,decreased visual acuity,vitreous floaters and amaurosis fugax.The best corrected vision was 0.04 OD and 0.12 OS,respectively.The fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left eye.Autofluorescence shows bilateral symmetrical hypo-autofluorescence.ERG revealed that the amplitudes of a-and b-wave were severely decreased.Multifocal ERG showed decreased amplitudes in the local macular area.A homozygous missense variant c.146C>T(chr14:68191267)was found.The clinical characteristics of a total of 13 patients reported with the same pathologic variant varied.CONCLUSION:An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are reported.The clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease.

关键词： RDH12 gene inherited retinal degeneration homozygous pathogenic variant clinical feature multi-mode imaging

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Preclinical evaluation of cyclophosphamide and fludarabine combined with CD19 CAR-T in the treatment of B-cell hematologic malignancies in vivo

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Oncology Research 2024年第6期32卷 1109-1118页

作者： ZHIGANG XIA MENGYAO TIAN YUCAI CHENG WENFANG YI ZEFAN DU TIANWEN LI YUCHEN WEN LINDI LI YONG LIU CHUN CHEN Pediatric Hematology Laboratory Division of Hematology/OncologyDepartment of PediatricsThe Seventh Affiliated Hospital of Sun Yat-sen UniversityShenzhen518107China Scientific Research Center The Seventh Affiliated Hospital of Sun Yat-sen UniversityShenzhen518107China

Background:Chimeric antigen receptor T(CAR-T)cell therapy has achieved marked therapeutic success in ameliorating hematological malignancies.However,there is an extant void in the clinical guidelines concerning the most effective chemotherapy regimen prior to chimeric antigen receptor T(CAR-T)cell therapy,as well as the optimal timing for CAR-T cell infusion post-chemotherapy.Materials and Methods:We employed cell-derived tumor xenograft(CDX)murine models to delineate the optimal pre-conditioning chemotherapy regimen and timing for CAR-T cell treatment.Furthermore,transcriptome sequencing was implemented to identify the therapeutic targets and elucidate the underlying mechanisms governing the treatment regimen.Results:Our preclinical in vivo evaluation determined that a combination of cyclophosphamide and fludarabine,followed by the infusion of CD19 CAR-T cells five days subsequent to the chemotherapy,exerts the most efficacious therapeutic effect in B-cell hematological malignancies.Concurrently,RNA-seq data indicated that the therapeutic efficacy predominantly perturbs tumor cell metabolism,primarily through the inhibition of key mitochondrial targets,such as C-Jun Kinase enzyme(C-JUN).Conclusion:In summary,the present study offers critical clinical guidance and serves as an authoritative reference for the deployment of CD19 CAR-T cell therapy in the treatment of B-cell hematological malignancies.

关键词： CD19 CAR-T B-cell hematologic malignancies Metabolism In vivo

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The mediatory role of water quality on the association between extreme precipitation events and infectious diarrhea in the Yangtze River Basin,China

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Fundamental Research 2024年第3期4卷 495-504页

作者： Junfeng Yu Liang Zhao Xin-Zhong Liang Hung Chak Ho Masahiro Hashizume Cunrui Huang School of Public Health Sun Yat-sen UniversityGuangzhou 510080China The State Key Laboratory of Numerical Modeling for Atmospheric Sciences and Geophysical Fluid Dynamics(LASG) Institute of Atmospheric PhysicsChinese Academy of SciencesBeijing 100029China Department of Atmospheric and Oceanic Science University of MarylandCollege ParkMD 20740USA Department of Public and International Affairs City University of Hong KongHong Kong 999077China Department of Global Health Policy Graduate School of MedicineThe University of TokyoTokyo 113-0033Japan Vanke School of Public Health Tsinghua UniversityBeijing 100084China Institute of Healthy China Tsinghua UniversityBeijing 100084China

Extreme precipitation is exacerbating the burden of infectious diarrhea in the context of climate change,it is necessary to identify the critical and easy-to-intervene intermediate factors for public health strategies.Water quality may be the most important mediator,while relevant empirical evidence is limited.This study aimed to examine the role of water quality in the process of infectious diarrhea caused by extreme precipitation.Weekly infectious diarrhea cases,meteorological factors and water quality data in Yangtze River Basin in China between October 29,2007 to February 19,2017 were obtained.Two-stage statistical models were used to estimate city-specific extreme precipitation,water quality and infectious diarrhea relationships that were pooled to derive regional estimates.A causal mediation analysis was used to assess the mediation effect of water quality.In Yangtze River Basin,extreme precipitation events had a significant impact on infectious diarrhea(Incidence Rate Ratios[IRR]:1.027,95%Confidence Interval[CI]:1.013~1.041).After extreme precipitation events,the dissolved oxygen(DO)in surface water decreased(-0.123 mg/L,95%CI:-0.159 mg/L~-0.086 mg/L),while the un-ionized ammonia(NH(3)-N)increased(0.004 mg/L,95%CI:0.001 mg/L~0.006 mg/L).The combined overall effect of DO and NH(3)-N on infectious diarrhea showed that both low and high concentrations were associated with an increased risk of infectious diarrhea.The causal mediation analysis showed that the mediation proportion of the two water quality indexes(DO and NH(3)-N)is 70.54%(P<0.001).To reduce the health effects of extreme precipitation,in contrast to current population-oriented health strategies,those that take into account more direct and easy-to-intervene water quality indicators should be encouraged by future policies.

关键词： Extreme precipitation Infectious diarrhea Water quality Dissolved oxygen Un-ionized ammonia Mediation analysis

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