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Genes & Diseases 2024年第3期11卷 66-68页

作者： Aswathi N Jincy M.Jose Sreelata B.Nair Prabha S.N Pappachan S Department of Medical Genetics Lifeline Super Specialty HospitalPathanamthittaKerala 691523India Lifeline Super Specialty Hospital PathanamthittaKerala 691523India

Alagille syndrome(ALGS;OMIM#118450)is a highlyvariable,multi-systemic,autosomal dominant disorder,caused by mutations in the Jagged Canonical Notch Ligand 1(JAG1)gene(20p12.2)or in the Neurogenic locus notch homolog protein 2(NOTCH2)gene(1p13).^(1)It primarily affects the liver,heart,eyes,face,kidney,skin,vertebrae,and skeleton.^(1,2)The JAG1 gene has 26 exons and about 90%of the ALGS cases result from pathogenic variants in the JAG1 and around 7%of cases have deletions in chromosome 20 that include this gene.

关键词： JAG1 cases Notch

Two cases on primary bone marrow lymphoma

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Cancer Pathogenesis and Therapy 2024年第1期2卷 58-61页

作者： Zining Wang Lu Sun Yue Wang Haoran Chen Hongbin Pu Bo Yang Xuechun Lu Medical School of Chinese PLA Beijing 100853China Department of Hematology The Second Medical Center&National Clinical Research Center for Geriatric DiseasesChinese PLA General HospitalBeijing 100853China Department of Pathology The First Medical CenterChinese PLA General HospitalBeijing 100853China National Institutes for Food and Drug Control Beijing 102629China Management School Shanxi Medical UniversityTaiyuanShanxi 030604China

Managing Editor:Peng Lyu Primary bone marrow lymphoma(PBML)is a rare lymphoma accounting for 1.23%of non-Hodgkin lymphoma(NHL)cases.It is characterized by tumor cells invading only the bone marrow without systemic lymphadenopathy or extranodal organ involvement.Owing to the lack of standardized treatment regimens,most patients are treated using rituximab with cyclophosphamide,doxorubicin,vincristine,and prednisone(R-CHOP)regimens;however,their efficacy needs to be further investigated.

关键词： lymphoma cases involvement

Integrated bulk and single-cell transcriptome data identify clinically relevant cell populations in clear cell renal cell carcinoma

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Genes & Diseases 2024年第1期11卷 42-45页

作者： Pingbao Zhang Pu Zhang Jun Gao Xiaosong Li Chengcheng Wei Weihui Liu QingLiu He Yuan Zhang Department of Urology Zhongshan HospitalFudan UniversityShanghai 200032China Department of Urology Surgery Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanHubei 430022China Department of Liver Surgery and Transplantation Liver Cancer InstituteZhongshan HospitalFudan UniversityShanghai 200032China Clinical Molecular Medicine Testing Center The First Affiliated Hospital of Chongqing Medical UniversityChongqing 400016China Department of Urology The Second Affiliated Hospital of Fujian Medical UniversityQuanzhouFujian 362000China Department of Nephrology Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China

Renal cell carcinoma,which consists of three main histological subtypes,namely,clear cell renal cell carcinoma(ccRCC),papillary RCC(pRCC),and chromophobe RCC(chRCC),accounts for most kidney cancer cases.ccRCC accounts for approximately 85%of all RcC cases,1 and it is a malignant tumor with multiple molecular features and a poor prognosis.Studies have shown that ccRCC is one of the most immune and vaso-invasive cancer types.2 Considering that ccRCC is not sensitive to either radiotherapy or chemotherapy,targeted therapies.

关键词： chemotherapy cancer cases

Epidemiological survey of cystic echinococcosis in southwest China:From the Qinghai-Tibet plateau to the area of Yunnan

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World Journal of Hepatology 2024年第2期16卷 229-240页

作者： Jin-Rong Zi Dan Xiao Jia Peng Fang-Wei Wu Jian-Xiong Li Xin-Liu Yan Zheng-Qing Wang Xuan Cai Qian Xu Ben-Fu Li Ya-Ming Yang Yunnan Provincial Center of Malaria Research Yunnan Institute of Parasitic DiseasesPuer 665000Yunnan ProvinceChina Yunnan Institute of Parasitic Diseases Yunnan Institute of Parasitic DiseasesPuer 665000Yunnan ProvinceChina Tibet Center for Disease Control and Prevention Tibet Center for Disease Control and PreventionLhasa 85000Tibet Autonomous RegionChina Yunnan Provincial Center of Malaria Research Yunnan Institute of Parasitic DiseasesPuer 655000Yunnan ProvinceChina

BACKGROUND Echinococcosis is prevalent in 9 provinces in Western and Northern China.An epidemiological survey of echinococcosis in 2012 and 2016 showed cases of echinococcosis in Yunnan Province.AIM To understand the spatial distribution and epidemiological characteristics of echinococcosis in Yunnan for the prevention and control of echinococcosis and to reduce the risk of infection in Yunnan Province.METHODS Based on the China Information System for Disease Control and Prevention(CISDCP),echinococcosis cases reported from 36 hospitals and 34 Centers for Disease Control were investigated and epidemiologically analyzed from 2021 to 2022.The exclusion criteria included suspected cases,same case only counted once and cases not from Yunnan.A total of 705 cases were investigated,of which 397 cases were suitable for statistical analysis.In these 397 cases,epidemiological investigation was tracked in 187 cases.All data were inputted using double entry in the Excel database,with error correction by double-entry comparison.The data on echinococcosis cases in Yunnan Province were analyzed by ArcGIS 10.1 software to generate a density map of echinococcosis distribution.All statistical analyses were conducted using SPSS 17.0,including the chi-square test,linear regression test and logistic univariate and multivariate regression analyses.RESULTS A total of 397 cases were found in 89 counties in Yunnan Province.The number of cases in the top three prefectures were Dali(38.1%),Diqing(10.1%),and Kunming(8.3%),and the top five counties were Jianchuan(9.1%),Shangri La(8.3%),Eryuan(7.6%),Heqing(6.9%),and Dali Districts(5.0%).There were significant differences between the different areas.The case reporting rate by CISDCP(33.8%)was low;the first case was reported by CISDCP in 2002,and the highest number of cases was 50(2017).Confirmed and clinical cases accounted for 62.5%and 37.5%,respectively.However,90.9%of the cases of hydatid disease were reported by the hospital system,and only 9.1%of the cases of hydatid disease were found in

关键词： Echinococcosis cases Epidemiological analysis Yunnan province

Multi-omic study to unmask genes involved in prostate cancer development in amulti-case family

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Cancer Communications 2024年第3期44卷 443-447页

作者： Lucia Chica-Redecillas Sergio Cuenca-Lopez Eduardo Andres-Leon Laura Carmen Terron-Camero Blanca Cano-Gutierrez Jose Manuel Cozar Jose Antonio Lorente Fernando Vazquez-Alonso Luis Javier Martinez-Gonzalez Maria Jesus Alvarez-Cubero GENYO Centre for Genomics and Oncological ResearchPfizerUniversity of GranadaAndalusian Regional GovernmentPTS GranadaGranadaGranadaSpain Department of Biochemistry Molecular Biology III and ImmunologyFaculty of MedicineUniversity of GranadaPTS GranadaGranadaGranadaSpain Bioinformatics Unit Institute of Parasitology and Biomedicine“López-Neyra”Spanish National Research CouncilGranadaGranadaSpain Nursery Service.University Hospital Clínico San Cecilio GranadaGranadaSpain Urology Department University Hospital Virgen de las NievesGranadaGranadaSpain Legal Medicine and Toxicology Department Faculty of MedicineUniversity of GranadaPTS GranadaGranadaGranadaSpain Ibs Biosanitary Research InstituteGranadaGranadaSpain

Dear Editor,Hereditary prostate cancer(PC)comprises 5%-10%of all PC cases.The increased risk of PC in menwith a family his-tory of the disease is well known and is commonly caused by germline mutations,leading to clinical guidelines men-tioning various genes for identifying high-risk individuals.However,the complex inheritance patterns involvingmul-tiple single nucleotide polymorphisms(SNPs)make it a genetically heterogeneous disease,with genetic testing still in its early stages.

关键词： cancer clinical cases

Characteristics of Poisoning cases Admitted to Outpatient and Emergency Department—China,2019

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China CDC weekly 2023年第47期5卷 1052-1057页

作者： Xiao Deng Ye Jin Yuan Wang Pengpeng Ye Yuan Yuan Chengye Sun Leilei Duan National Institute for Occupational Health and Poison Control Chinese Center for Disease Control and PreventionBeijingChina National Center for Chronic and Noncommunicable Disease Control and Prevention Chinese Center for Disease Control and PreventionBeijingChina

Summary What is already known about this topic?Poisoning constitutes a significant cause of mortality among individuals aged 1 to 44 in China.Nonetheless,the epidemiological understanding of poisoning incidents within... 详细信息

关键词： Poisoning mortality cases

Two cases of refractory methicillin-susceptible staphylococcus aureus endocarditis responsive to ertapenem

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Journal of Geriatric Cardiology 2023年第11期20卷 829-831页

作者： Abhinav Karan Pranitha Chekka Pramod Reddy Department of Internal Medicine University of Florida College of MedicineJacksonvilleUSA

Persistent methicillin-sensitive staphylococcus aureus(MSSA)bacteremia is usually defined as persistent bacteremia despite 7 days of appropriate antibiotic therapy.While nafcillin,cefazolin,or oxacillin are excellent antimicrobial options,persistent MSSA is a commonly encountered phenomenon in clinical practice for which further guidelines on appropriate management are necessitated.Here we highlight two cases of MSSA bacteremia requiring salvage therapy with ertapenem.

关键词： cases staphylococcus methicillin

Reported cases and Deaths of National Notifiable Infectious Diseases - China, November, 2021

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China CDC weekly 2022年第2期4卷 33-34页

作者： [Anonymous]

The number of deaths of Acquired immune deficiency syndrome is the number of all-cause deaths reported in the month by cumulative reported AIDS patients.

关键词： Diseases cases patients

SARS-CoV-2 infection and the brain:direct evidence for brain changes in milder cases

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Signal Transduction and Targeted Therapy 2022年第8期7卷 2641-2643页

作者： Nico Sollmann Ambros J.Beer Frank Kirchhoff Department of Diagnostic and Interventional Radiology Ulm University Medical CenterUlmGermany Department of Nuclear Medicine Ulm University Medical CenterUlmGermany Institute of Molecular Virology Ulm University Medical CenterUlmGermany

Dear Editor,A recent study published in Nature by Douaud and colleagues1 shows that SARS-CoV-2 infection is associated with longitudinal effects,particularly on brain structures linked to the olfactory cortex,modestly accelerated reduction in global brain volume,and enhanced cognitive decline.Thus,even mild COVID-19 can be associated with long-lasting deleterious effects on brain structure and function.

关键词： infection cortex cases