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Whole-exome sequencing of a multicenter cohort identifies genetic changes associated with clinical phenotypes in pediatric nephrotic syndrome

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Genes & Diseases 2022年第6期9卷 1662-1673页

作者： Jia Jiao Li Wang Fenfen Ni Mo Wang Shipin Feng Xiaojie Gao Han Chan Xueying Yang Hao Lee Huan Chi Xuelan Chen Daoqi Wu Gaofu Zhang Baohui Yang Anshuo Wang Qin Yang Junli Wan Sijie Yu Xiaoqin Li Mei Wang Xiaofeng Chen Xianying Mai Xiongzhong Ruan Haiping Yang Qiu Li Department of Nephrology Children’s Hospital of Chongqing Medical UniversityNational Clinical Research Center for Child Health and DisordersMinistry of Education Key Laboratory of Child Development and DisordersChongqing Key Laboratory of PediatricsChongqing 400015PR China Department of Nephrology Chengdu Women and Children Central HospitalChengduSichuan 610091PR China Department of Nephrology Sheen Children’s HospitalShenzhenGuangdong 518034PR China Centre for Lipid Research&Key Laboratory of Molecular Biology for Infectious Diseases(Ministry of Education) Institute for Viral HepatitisDepartment of Infectious DiseasesThe Second Affiliated Hospital Chongqing Medical UniversityChongqing 400016PR ChinaJohn Moorhead Research LaboratoryCentre for NephrologyUniversity College London Medical SchoolRoyal Free CampusUniversity College LondonLondon WC1E 6BTUnited Kingdom

Understanding the association between the genetic and clinical phenotypes in children with nephrotic syndrome(NS)of different etiologies is critical for early clinical *** employed whole-exome sequencing(WES)to detect monogenic causes of NS in a multicenter cohort of 637 *** this study,a genetic cause was identified in 30.0%of the idiopathic steroid-resistant nephrotic syndrome(SRNS)*** than congenital nephrotic syndrome(CNS),there were no significant differences in the incidence of monogenic diseases based on the age at *** mutations were detected in 39.5%of patients with focal segmental glomerulosclerosis(FSGS)and 9.2%of those with minimal change disease(MCD).In terms of the patterns in patients with different types of steroid resistance,a single gene mutation was identified in 34.8%of patients with primary resistance,2.9%with secondary resistance,and 71.4%of children with multidrug *** the various intensified immunosuppressive therapies,tacrolimus(TAC)showed the highest response rate,with 49.7%of idiopathic SRNS patients achieving complete *** SRNS patients with monogenic disease showed a similar multidrug resistance pattern,and only 31.4%of patients with monogenic disease achieved a partial remission on *** an average 4.1-year follow-up,21.4%of idiopathic SRNS patients with monogenic disease progressed to end-stage renal disease(ESRD).Collectively,this study provides evidence that genetic testing is necessary for presumed steroid-resistant and idiopathic SRNS patients,especially those with primary and/or multidrug resistance.

关键词： Clinical phenotypes Genetic phenotypes Multicenter cohort Nephrotic syndrome Pediatric Whole-exome sequencing

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A Multi-Channel Fusion Based Newborn Seizure Detection

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Journal of Biomedical Science and Engineering 2014年第8期7卷 533-545页

作者： Malarvili BalaKrishnan Paul Colditz Boualeum Boashash College of Engineering-Qatar University Doha Qatar Faculty of Biosciences and Medical Engineering Universiti Teknologi Malaysia Skudai Malaysia royal Brisbane & Women’s Hospital campus Centre for Clinical Research University of Queensland Brisbane Australia

We propose and compare two multi-channel fusion schemes to utilize the information extracted from simultaneously recorded multiple newborn electroencephalogram (EEG) channels for seizure detection. The first approach is known as the multi-channel feature fusion. It involves concatenating EEG feature vectors independently obtained from the different EEG channels to form a single feature vector. The second approach, called the multi-channel decision/classifier fusion, is achieved by combining the independent decisions of the different EEG channels to form an overall decision as to the existence of a newborn EEG seizure. The first approach suffers from the large dimensionality problem. In order to overcome this problem, three different dimensionality reduction techniques based on the sum, Fisher’s linear discriminant and symmetrical uncertainty (SU) were considered. It was found that feature fusion based on SU technique outperformed the other two techniques. It was also shown that feature fusion, which was developed on the basis that there was inter-dependence between recorded EEG channels, was superior to the independent decision fusion.

关键词： EEG Newborn Seizure Detection Multi-Channel Feature Fusion Decision/Classifier Fusion

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Germination Response of Ornamental Pine Seeds on a Two-Way Thermogradient Plate

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American Journal of Plant Sciences 2018年第1期9卷 13-22页

作者： Marcos Vieira Ferraz Kathia Fernandes Lopes Pivetta Hugh W. Pritchard Tim Marks Marcelo Vieira Ferraz Leandro José Grava de Godoy Department of Plant Production Sao Paulo State University (Unesp) Jaboticabal Brazil The Millenium Seed Bank Royal Botanic Kew Gardens Ardingly England campus of Registro Sao Paulo State University (Unesp) Registro Brazil

The objective of this study was to evaluate the effect of temperature on germination of Pinus tabuliformis Carrière seed, Pinus gerardiana Wall. ex D. Don and Pinus roxburghii Sarg. Seeds of three species were distributed in Petri dishes with 1% agar solution;for the first step it was placed on a 2-way Grant’s thermogradient plate (a bi-directional incubator) for a period of 28 days and during the second step in an incubator type B.O.D. also for 28 days with non-germinated seeds in the first step. This instrument allows an assessment of a wide regime of constant and alternating temperatures, resulting to 144 different combinations of temperature, scheduled to the temperatures 4°C - 40°C. The lighting regime was 12 hours photoperiod for the two stages of the experiment. The best temperature for the germination of P. tabuliformis was 26.2°C (minimum of 7.9°C and maximum 37.0°C) and P. roxburghii was 15.6°C (minimum 10, 4°C and maximum 37.0°C). The seeds are neutral photoblastic. P. gerardiana showed low germination percentage (below 10%). The temperature that provided the highest germination percentage for P. tabuliformis was 26.2°C and 15.6°C for P. roxburghii.

关键词： Thermogradient Plate Temperature Regime Germination Percentage

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英国和爱尔兰的人类疱疹病毒-6和-7均可导致神经系统疾病的发病率升高

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世界核心医学期刊文摘（儿科学分册） 2005年第10期1卷 18-19页

作者： Ward K.N. Andrews N.J. Verity C.M. 郭战宏 Department of Infecti on Royal Free and University College Medical School (UCL Campus)Windeyer Insti tute of Medical Sciences 46 Cleveland Street London W1T 4JF United Kingdom Dr.

Background: Primary human herpesvirus-6 and -7 (HHV-6/-7) infections cause febrile illness sometimes complicated by convulsions and rarely encephalopathy. Aims: To explore the extent of such HHV-6 and -7 induced disease in young chi ldren. Methods: In a three year prospective study in Britain and Ireland, 205 ch ildren (2-35 months old) hospitalised with suspected encephalitis and/or severe illness with fever and convulsions were reported via the British Paediatric Sur veillance Unit network. Blood samples were tested for primary HHV-6 and -7 inf ections. Results: 26/156 (17%) of children aged 2-23 months had primary infect ion (11 HHV-6; 13 HHV-7; two with both viruses) coinciding with the acute illness; this was much higher than the about three cases expected by cha nce. All 26 were pyrexial; 25 had convulsions (18 status epilepticus), 11 requir ing ventilation. Median hospital stay was 7.5 days. For HHV-6 primary infection the median age was 53 weeks (range 42-94) and the distribution differed from t hat of uninfected children; for HHV-7, the median was 60 weeks (range 17-102) and the distribution did not differ for the uninfected. Fewer (5/15)-children w ith primary HHV-7 infection had previously been infected with HHV-6 than expec ted. Conclusions: Primary HHV-6 and HHV-7 infections accounted for a significa nt proportion of cases in those< 2 years old of severe illness with fever and co nvulsions requiring hospital admission; each virus contributed equally. Predispo sing factors are age for HHV-6 and no previous infection with HHV-6 for HHV-7 . Children with such neurological disease should be investigated for primary HHV -6/-7 infections, especially in rare cases coinciding by chance with immunisat ion to exclude misdiagnosis as vaccine reactions.

关键词：神经系统疾病人类疱疹病毒癫痫持续状态年龄中位数原发感染发热性疾病罕见病例急性疾病脑病原发性感染

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Antibody drug conjugate:the“biological missile”for targeted cancer therapy

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Signal Transduction and Targeted Therapy 2022年第4期7卷 1066-1090页

作者： Zhiwen Fu Shijun Li Sifei Han Chen Shi Yu Zhang Department of Pharmacy Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022People’s Republic of China Hubei Province Clinical Research Center for Precision Medicine for Critical Illness Wuhan 430022People’s Republic of China Drug Delivery Disposition and DynamicsMonash Institute of Pharmaceutical SciencesMonash University(Parkville Campus)381 Royal ParadeParkvilleVIC 3052Australia Faculty of Pharmacy China Pharmaceutical University639 Longmian AvenueJiangning DistrictNanjing 211198People’s Republic of China

Antibody–drug conjugate(ADC)is typically composed of a monoclonal antibody(mAbs)covalently attached to a cytotoxic drug via a chemical *** combines both the advantages of highly specific targeting ability and highly potent killing effect to achieve accurate and efficient elimination of cancer cells,which has become one of the hotspots for the research and development of anticancer *** the first ADC,Mylotarg®(gemtuzumab ozogamicin),was approved in 2000 by the US Food and Drug Administration(FDA),there have been 14 ADCs received market approval so far ***,over 100 ADC candidates have been investigated in clinical stages at *** kind of new anti-cancer drugs,known as“biological missiles”,is leading a new era of targeted cancer ***,we conducted a review of the history and general mechanism of action of ADCs,and then briefly discussed the molecular aspects of key components of ADCs and the mechanisms by which these key factors influence the activities of ***,we also reviewed the approved ADCs and other promising candidates in phase-3 clinical trials and discuss the current challenges and future perspectives for the development of next generations,which provide insights for the research and development of novel cancer therapeutics using ADCs.

关键词： Antibody drugs conjugate

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Green manure rotation and application increase rice yield and soil carbon in the Yangtze River valley of China

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Pedosphere 2023年第4期33卷 589-599页

作者： Qian YUE Jianfei SUN Jonathan HILLIER Jing SHENG Zhi GUO Puping ZHU Kun CHENG Genxing PAN Yunpeng LI Xin WANG Key Laboratory for Crop and Animal Integrated Farming of Ministry of Agriculture and Rural Affairs/Institute of Agricultural Resources and Environment Jiangsu Academy of Agricultural SciencesNanjing 210014(China) Nanjing Institute of Environmental Sciences Ministry of Ecology and EnvironmentNanjing 210042(China) Global Academy of Agriculture and Food Security The Royal(Dick)School of Veterinary Studies and The Roslin InstituteThe University of EdinburghEaster Bush CampusMidlothian EH259RG(UK) Institute of Resource Ecosystem and Environment of AgricultureNanjing Agricultural UniversityNanjing 210095(China)

The addition of organic matter via green manure rotation with rice is considered a smart agricultural practice to maintain soil productivity and support environmental ***,few studies have quantitatively assessed the impact of green manure rotation and application on the interactions between agronomic management practice,soil fertility,and crop *** this study,800 pairs of data from 108 studies conducted in the agricultural region of the Yangtze River,China were assessed,and random forest(RF)modeling was performed to evaluate the effect of green manure rotation and application on rice yield and soil *** to a winter fallow system,rotation and application of green manure significantly increased rice yield and soil organic carbon(SOC)by 8.1%and 8.4%,*** to the RF models,rice type,green manure application rate and duration,mineral and organic nitrogen application rates,and initial SOC content and soil pH were identified as the main drivers for rice yield and SOC *** benefit analysis revealed that green manure application rates for early rice in double cropping system and the rice in single cropping system were approximately 20 and 26 t ha-1(fresh weight),***,the optimum green manure application rate was approximately 25 t ha-1(fresh weight)for carbon ***,it should be noted that green manure application to soils with high SOC level might result in the soils becoming a net carbon *** study contributed scientific and quantitative indicators for achieving the greatest benefits in rice yield and increasing SOC upon application of green manure.

关键词： carbon sequestration crop production random forest model soil fertility soil organic carbon

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Clinical results of linezolid in arthroplasty and trauma related infections

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World Journal of Orthopedics 2014年第2期5卷 151-157页

作者： James Joel Simon Matthew Graham Adam Peckham-Cooper Nectarios Korres Helen Tsouchnica Eleftherios Tsiridis Academic Orthopaedic and Trauma Unit Leeds Teaching Hospitals Leeds School of Medicine Leeds LS1 3EX United Kingdom royal Liverpool University Hospital Liverpool L7 8XP United Kingdom Academic Orthopaedics and Trauma Unit Division of Surgery Aristotle University Medical School University Campus 54 124 Thessaloniki Greece

AIM: To analyse the management of patients treated with linezolid for orthopaedic ***: Twenty-two patients with orthopaedic related infections receiving a course of linezolid were reviewed retrospectively. Patients were classified into either post trauma, post arthroplasty and non trauma related infections. A diagnosis of infection was based on clinical findings, positive microbiological specimens, and positive signs of infection on radiological imaging and raised inflammatory markers. Pathogens isolated, inflammatory markers both at presentation and at final follow up, length of linezolid treatment, adverse drug reactions, concomitant anti-microbial therapy, length of hospital stay and any surgical interventions were ***: Infections were classified as post arthroplasty(n = 10), post trauma surgery(n = 8) or nontrauma related infections(n = 4). Twenty patients(91%) underwent surgical intervention as part of their treatment. The number of required surgical procedures ranged from 1 to 6(mean = 2.56). Mean total length of stay per admission was 28.5 d(range 1-160 d). Furthermore, the mean duration of treatment with linezolid of patients who had resolution of symptoms was 31 d(range 10-84 d). All patients within this group were discharged on oral linezolid. Pathogens isolated included methicillin resistant Staphylococcus aureus, coagulase negative staphylococci, coliforms, enterococcus, Staphylococcus epidermidis, streptococcus viridans, Escherichia coli, group B streptococcus and pseudomonas. An overall 77% of patients demonstrated resolution of infections at follow-up, with mean C-reactive protein reducing from 123 mg/L to 13.2 mg/***: This study demonstrates that the use of linezolid offers excellent efficacy in orthopaedic related infections when used alongside appropriate surgical management.

关键词： Antibiotic resistance Linezolid Orthopaedic infections Osteomyelitis Periprosthetic joint infection

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Cervical Cancer Classification Using Combined Machine Learning and Deep Learning Approach

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Computers, Materials & Continua 2022年第9期72卷 5117-5134页

作者： Hiam Alquran Wan Azani Mustafa Isam Abu Qasmieh Yasmeen Mohd Yacob Mohammed Alsalatie Yazan Al-Issa Ali Mohammad Alqudah Department of Biomedical Engineering Jordan University of Science and TechnologyIrbid22110Jordan Department of Biomedical Systems and Informatics Engineering Yarmouk University 556Irbid21163Jordan Faculty of Electrical Engineering Technology Campus Pauh PutraUniversiti Malaysia Perlis02000ArauPerlisMalaysia Advanced Computing Centre of Excellence(CoE)Universiti Malaysia Perlis(UniMAP)02000ArauPerlisMalaysia The Institute of Biomedical Technology King Hussein Medical CenterRoyal Jordanian Medical ServiceAmman11855Jordan Department of Computer Engineering Yarmouk UniversityIrbid21163Jordan

Cervical cancer is screened by pap smear methodology for detection and classification *** smear images of the cervical region are employed to detect and classify the abnormality of cervical *** this paper,we proposed the first system that it ables to classify the pap smear images into a seven classes *** smear images are exploited to design a computer-aided diagnoses system to classify the abnormality in cervical images *** features that have been extracted using ResNet101 are employed to discriminate seven classes of images in Support Vector Machine(SVM)*** success of this proposed system in distinguishing between the levels of normal cases with 100%accuracy and 100%*** top of that,it can distinguish between normal and abnormal cases with an accuracy of 100%.The high level of abnormality is then studied and classified with a high *** the other hand,the low level of abnormality is studied separately and classified into two classes,mild and moderate dysplasia,with∼92%*** proposed system is a built-in cascading manner with five models of polynomial(SVM)*** overall accuracy in training for all cases is 100%,while the overall test for all seven classes is around 92%in the test phase and overall accuracy reaches 97.3%.The proposed system facilitates the process of detection and classification of cervical cells in pap smear images and leads to early diagnosis of cervical cancer,which may lead to an increase in the survival rate in women.

关键词： Classification deep learning machine learning pap smear images resnet101 support vector machines

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The influence of environmental factors on species composition and distribution in a community forest in Northern Thailand

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Journal of Forestry Research 2021年第2期32卷 649-662页

作者： Siriluck Thammanu Dokrak Marod Hee Han Narayan Bhusal Lamthai Asanok Pipat Ketdee Noppakoon Gaewsingha Seunghyun Lee Joosang Chung Department of Forest Sciences Seoul National UniversitySeoul 08826Republic of Korea royal Forest Department Bangkok 10900Thailand Department of Forest Biology Faculty of ForestryKasetsart UniversityBangkok 10900Thailand Department of Forest Policy and Economics National Institute of Forest ScienceSeoul 02455Republic of Korea Department of Agroforestry Maejo UniversityPhrae CampusPhrae 54140Thailand Department of National Parks Wildlife and Plant ConservationBangkok 10900Thailand Research Institute of Agriculture and Life Sciences Seoul National UniversitySeoul 08826Republic of Korea

Understanding the environmental factors that influence tree species composition is essential for successful management of biodiversity and sustainable use of community forest *** study aims to assess tree species composition and distribution in the deciduous Ban Mae Chiang Rai Lum Community Forest in Northern Thailand and to analyze the influence of environmental factors on tree biodiversity in the *** conducted a stratified systematic sampling of the forest’s total area of 3925 ha,and twenty-five 0.16 ha survey plots were established in three different stands of the deciduous forests to estimate and characterize the difference in biological diversity among the *** correspondence analysis(CCA)was used to investigate the environment factors affecting such differences in biodiversity of the *** results showed a high diversity of trees in the forest as 197 species,144 genera,and 62 plant families were *** CCA ordination identified the environmental factors—the most important of which were elevation,distance to streams,soil moisture,organic matter,and distance to communities—that signifi-cantly influenced the diversity and distribution of tree species(p<0.05)in the community *** findings indicate that the implementation of drought reduction measures such as building check dams,fire protection,and monitoring community forest-product usage would be recommended to further biodiversity conservation and the sustainable use of community forest resources.

关键词： Community forest management Species biodiversity Canonical correspondence analysis Ban Mae Chiang Rai Lum community forest Northern Thailand

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Praziquantel decreases fecundity in Schistosoma mansoni adult worms that survive treatment:evidence from a laboratory life-history trade-offs selection study

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Infectious Diseases of Poverty 2017年第1期6卷 988-998页

作者： Poppy H.L.Lamberton Christina L.Faust Joanne P.Webster Institute for Biodiversity Animal Healthand Comparative Medicine&Wellcome Centre for Molecular ParasitologyCollege of MedicalVeterinary&Life SciencesUniversity of GlasgowG128QQGlasgowUK London Centre for Neglected Tropical Disease Research Department of Infectious Disease EpidemiologySchool of Public HealthImperial College LondonSt Mary’s CampusW21PGLondonUK Centre for Endemic Emerging and Exotic DiseasesThe Royal Veterinary CollegeUniversity of LondonLondon AL97TAUK

Background:Mass drug administration of praziquantel is the World Health Organization’s endorsed control strategy for schistosomiasis.A decade of annual treatments across sub-Saharan Africa has resulted in significant reductions of infection prevalence and intensity levels,although‘hotspots’*** drug treatments place strong selective pressures on parasites,which may affect life-history traits that impact transmission *** drug treatment responses and the evolution of such traits can help inform on how to minimise the risk of drug resistance developing,maximise sustainable control programme success,and improve diagnostic ***:We performed a four-generation Schistosoma mansoni praziquantel selection experiment in mice and *** used three *** lines:a praziquantel-resistant isolate(R),a praziquantel-susceptible isolate(S),and a coinfected line(RS),under three treatment regimens:untreated,25 mg/kg praziquantel,or 50 mg/kg *** traits,including parasite adult-worm establishment,survival,reproduction(fecundity),and associated morbidity,were recorded in mice across all four *** variables were tested in a series of generalized linear mixed effects models to determine which factors had a significant influence on parasite life-history traits in definitive hosts under different selection ***:Praziquantel pressure significantly reduced adult-worm burdens across all generations and isolates,including within ***,previous drug treatment resulted in an increase in adult-worm establishment with increasing generation from P1 to *** highest worm numbers were in the co-infected RS *** treatment decreased adult-worm burden,but had a larger negative impact on the mean daily number of miracidia,a proxy for fecundity,across all three parasite ***:Our predicted cost of resistance was not supported by the traits we measured within the murine host.

关键词： Schistosoma mansoni Biomphalaria Mouse Praziquantel Resistance Establishment Survival Fecundity Trade-offs

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