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Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment

World Journal of Pediatrics 2017年第3期13卷 197-201页

作者： Qing Ke Zheng-Yan Zhao Robert Griggs veronica wiley Anne Connolly Jennifer Kwon Ming Qi Daniel Sheehan Emma Ciafaloni R Rodney Howell Petra Furu Peter Sazani Arvind Narayana Michele Gatheridge Department of Neurology The First Affiliated HospitalZhejiang University School of MedicineHangzhouChina Department of Child Health Care Children's HospitalZhejiang University School of MedicineHangzhouChina Department of Neurology University of Rochester School of Medicine and DentistryRochesterNew YorkUSA Department of Pediatrics University of Rochester School of Medicine and DentistryRochesterNew YorkUSA Disciplines of Genetic Medicine and Pediatric and Child Health University of SydneyAustralia Departments of Neurology and Pediatrics Washington University School of MedicineSt.LouisMissouriUSA Center for Genetic&Genomic Medicine Zhejiang University School of Medicine and James Watson Institute of Genome SciencesHangzhouChina Department of Pediatrics University of BuffaloBuffaloNew YorkUSA University of Miami MiamiFloridaUSA Neonatal Screening PerkinElmerTurkuFinland Field Medical Affairs Marathon PharmaceuticalsNorthbrookIllinoisUSA Medical Affairs Sarepta TherapeuticsCambridgeMassachusettsUSA

Background:Newborn screening for Duchenne muscular dystrophy (DMD) is currently being initiated in Zhejiang Province,China and is under consideration in other countries,including the United *** China begins to implement DMD newborn screening (DMD-NBS),there is ongoing discussion regarding the steps forward for follow up care of positively identified patients as well as false positive and false negative *** sources:Relevant papers related to DMD-NBS,and NBS in China were reviewed in ***:The current state of DMD-NBS is discussed,along with the steps needed to effectively screen infants for this disease in China,recommendations for establishment of follow up care in patients with positive and negative screens,and measurement of patient ***:Zhejiang Province,China is ready to implement *** challenges that exist for this program,and other countries,include the ability to track patients,assist with access to care,and ensure adequate follow-up care according to evidence-based *** addition,China's large rural population,lack of specialty providers,and difficulty in educating patients regarding the benefits of treatment create challenges that will need to be addressed.

关键词： Duchene muscular dystrophy neurology neuromuscular disorders newborn screening

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Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy

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World Journal of Pediatrics 2019年第3期15卷 219-225页

作者： Qing Ke Zheng-Yan Zhao Jerry R.Mendell Mei Baker veronica wiley Jennifer M.Kwon Lindsay N.Alfano Anne M.Connolly Catherine Jay Hanna Polari Emma Ciafaloni Ming Qi Robert C.Griggs Michele A.Gatheridge Department of Neurology The First Affiliated Hospital College of MedicineZhejiang UniversityHangzhouZhejiangChina Children’S Hospital Zhejiang University School of Medicine HangzhouChina Department of Pediatrics and Neurology Nationwide Children’S HospitalColumbusOHUSA Department of Pediatrics University of Wisconsin School of Medicine and Public HealthMadisonWIUSA Disciplines of Genetic Medicine and Pediatric and Child Health University of SydneySydneyAustralia Department of Neurology University of Wisconsin School of Medicine and Public HealthMadisonWIUSA Department of Pediatrics Nationwide Children’S HospitalColumbusOHUSA Department of Neurology Washington University School of MedicineSt.LouisMOUSA Department of Neurology University of Rochester School of Medicine and DentistryRochesterNY’USA PerkinElmer Inc TurkuFinland Department of Clinical Laboratory Zhejiang University School of MedicineHangzhouChina Department of Neurology University of Rochester School of Medicine and Dentistry60 1 Elmwood AveBox 673RochesterNY 14642USA

Background Advances in treatment for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) hold promise for children with these *** genetic diagnosis,early in the disease process,will allow these treatments to be most *** screening (NBS) for SMA has been recommended in the United States,and a pilot DMD NBS program is underway in Hangzhou,*** sources A PubMed search,limited to the past 5 years,was conducted to identify:(1) therapeutic advancements for DMD/SMA approved by the United States Food and Drug Administration or the European Medicine Agency and (2) The status of NBS for DMD/*** We review the current state of approved treatments for DMD/*** present recommendations regarding the future of NBS for these diseases,with a focus on the outcomes and challenges of SMA NBS in New York,USA,and the DMD NBS pilot program in Hangzhou,*** Approved treatments for DMD and SMA may change the natural history of these ***-term studies of these treatments are *** avoid the known diagnostic delay associated with these disorders and provide optimal effectiveness of these treatments,early identification of patients through NBS will be *** comprehensive follow-up plans for positively identified patients will need to be in place for NBS programs to be successful.

关键词： Duchene muscular dystrophy Spinal muscular atrophy Newborn screening Neuromuscular disorders Neurology

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Development of gradient boosting-assisted machine learning data-driven model for free chlorine residual prediction

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Frontiers of Environmental Science & Engineering 2024年第2期18卷 35-46页

作者： wiley Helm Shifa Zhong Elliot Reid Thomas Igou Yongsheng Chen School of Civil and Environmental Engineering Georgia Institute of TechnologyAtlantaGA 30332USA School of Ecological and Environmental Sciences East China Normal UniversityShanghai 200241China

Chlorine-based disinfection is ubiquitous in conventional drinking water treatment (DWT) and serves to mitigate threats of acute microbial disease caused by pathogens that may be present in source water. An important index of disinfection efficiency is the free chlorine residual (FCR), a regulated disinfection parameter in the US that indirectly measures disinfectant power for prevention of microbial recontamination during DWT and distribution. This work demonstrates how machine learning (ML) can be implemented to improve FCR forecasting when supplied with water quality data from a real, full-scale chlorine disinfection system in Georgia, USA. More precisely, a gradient-boosting ML method (CatBoost) was developed from a full year of DWT plant-generated chlorine disinfection data, including water quality parameters (e.g., temperature, turbidity, pH) and operational process data (e.g., flowrates), to predict FCR. Four gradient-boosting models were implemented, with the highest performance achieving a coefficient of determination, R2, of 0.937. Values that provide explanations using Shapley’s additive method were used to interpret the model’s results, uncovering that standard DWT operating parameters, although non-intuitive and theoretically non-causal, vastly improved prediction performance. These results provide a base case for data-driven DWT disinfection supervision and suggest process monitoring methods to provide better information to plant operators for implementation of safe chlorine dosing to maintain optimum FCR.

关键词： Machine learning Data-driven modeling Drinking water treatment Disinfection Chlorination

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Ionogels and eutectogels for stable and long-term EEG and EMG signal acquisition

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Materials Futures 2024年第3期3卷 95-110页

作者： Asmita veronica Hnin Yin Yin Nyein I-Ming Hsing Department of Chemical and Biological Engineering The Hong Kong University of Science and TechnologyClear Water BayHong Kong Special Administrative Region of ChinaPeople’s Republic of China

Neurological injuries and disorders have a significant impact on individuals’quality of life,often resulting in motor and sensory *** assess motor performance and monitor neurological disorders,non-invasive techniques such as electroencephalography(EEG)and electromyography(EMG)are commonly *** employed wet electrodes with conductive gels are limited by lengthy skin preparation time and allergic *** dry electrodes and hydrogel-based electrodes can mitigate these issues,their applicability for long-term monitoring is *** electrodes are susceptible to motion artifacts,whereas hydrogel-based electrodes face challenges related to water-induced ***,ionogels and eutectogels derived from ionic liquids and deep eutectic solvents have gained immense popularity due to their non-volatility,ionic conductivity,thermal stability,and ***,in particular,exhibit superior *** characteristics make them suitable alternatives for the development of safer,robust,and reliable EEG and EMG ***,research specifically focused on their application for EEG and EMG signal acquisition remains *** article explores the electrode requirements and material advancements in EEG and EMG sensing,with a focus on highlighting the benefits that ionogels and eutectogels offer over conventional *** sheds light on the current limitations of these materials and proposes areas for further improvement in this *** potential of these gel-based materials to achieve a seamless interface for high-quality and long-term electrophysiological signal acquisition is *** the unique properties of ionogels and eutectogels holds promise for future advancements in EEG and EMG electrode materials,leading to improved monitoring systems and enhanced patient outcomes.

关键词： ionogel eutectogel electrode electroencephalography electromyography

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血片技术筛查新生儿疾病的过去、现在和将来

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诊断学理论与实践 2015年第2期14卷 109-112页

作者： Kaustuv Bhattacharya Tiffany Wotton veronica wiley 侯宇航吴占河澳大利亚悉尼大学儿科系澳大利亚新南威尔士洲新生儿筛查中心国际新生儿筛查学会哈尔滨医科大学附属第一医院血液科澳大利亚亚历山大儿童医院

细菌生长抑制试验血片筛查技术应用于新生儿已有50多年。目前新生儿血片筛查已成为一项面向大众的检测。数十年来．随着疾病筛查及相应早期干预的开展，使全世界的苯丙酮尿症、先天性甲状腺功能减退、囊性纤维化和血红蛋白病患者从中获益。

关键词：血片技术疾病筛查新生儿

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Exosome-Transmitted miR-224-5p Promotes Colorectal Cancer Cell Proliferation via Targeting ULK2 in p53-Dependent Manner

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Biomedical and Environmental Sciences 2024年第1期37卷 71-84页

作者： YANG Le Mei ZHENG Qi LIU Xiao Jia LI Xian Xian veronica Lim CHEN Qi ZHAO Zhong Hua WANG Shu Yang Department of Pathology School of Basic MedicineFudan UniversityShanghai 200032China Department of Pathology Dunedin School of MedicineUniversity of OtagoDunedin 9054New Zealand Department of Pathology Huashan HospitalFudan UniversityShanghai 200040China Shanghai Cancer Institute Renji HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200127China Teladoc Health Inc Shanghai 200335China Shanghai Medical College Fudan UniversityShanghai 200032China Shanghai Key Laboratory of Medical Imaging Computing and Computer Assisted Intervention Shanghai 200032China

Objective To investigate the role and molecular mechanism of exosomal miR-224-5p in colorectal cancer(CRC).Methods The miR-224-5p expression in CRC patient tissues and cell-derived exosomes was measured by laser capture microdissection and qRT-PCR,***-luciferase reporter gene assay was used to determine the target gene of *** protein expressions of p53 and unc-51 like kinase 2(ULK2)in CRC cells were detected by western *** cytometry was used to detect cell cycle and *** proliferation was measured by CCK8 and EdU *** The miR-224-5p expression was upregulated in CRC tissues and increased progressively with the rise of CRC *** cells secreted extracellular miR-224-5p mainly in an exosome-dependent manner,and then miR-224-5p could be transferred to surrounding tumor cells to regulate cell proliferation in the form of autocrine or ***,ULK2 was characterized as a direct target of miR-224-5p and was downregulated in CRC ***,ULK2 inhibited CRC cell proliferation in a p53-dependent ***,exosome-derived miR-224-5p partially reversed the proliferation regulation of ULK2 on CRC *** Our findings demonstrate that exosome-transmitted miR-224-5p promotes p53-dependent cell proliferation by targeting ULK2 in CRC,which may offer promising targets for CRC prevention and therapy.

关键词： miR-224-5p Exosome ULK2 p53 Cell proliferation Colorectal cancer

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Literature Review of the Prevalence of Hypertension at Gulu University, Gulu City, Acholi Subregion, Northern Uganda

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World Journal of Cardiovascular Diseases 2024年第9期14卷 588-602页

作者： Lamwaka Alice veronica Mboowa John Bosco Department of Pharmacy Faculty of Medicine Gulu University Gulu City Uganda

Hypertension is a big problem worldwide. The purpose of this study is to examine the prevalence, knowledge, attitude, and practice about hypertension at Gulu University, Gulu city, Gulu district, Acholi subregion, Northern Uganda. A literature search on hypertension was done. It showed that, in Uganda, a representative number of 17,777 adult patients’ data were analyzed from January 2014 to February 2024. The epidemiological data on awareness of hypertension was found to be at 8%. Of this, 18.3% of the people with hypertension had it under control. The results of the findings were promising. Hypertension is an important public health challenge in Uganda particularly in Northern Uganda where Gulu University falls. In comparison with the two regions of Central Uganda and Northern Uganda, there was a significant number of populations that were not aware of their condition. Those diagnosed were on treatment but the treatment was not adhered to due to stock outs of medicines. Therefore, Measures are required to prevent hypertension, improve awareness, treatment and control within the community, especially at Gulu University where research has never been done.

关键词： Prevalence Hypertension Blood Pressure Knowledge Attitude Practices Cross Sectional Studies

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Bloom-forming cyanobacteria and dinoflagellates in five Argentinian reservoirs:Multi-year sampling

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Water Biology and Security 2024年第1期3卷 28-36页

作者： Florencia Soledad Alvarez Dalinger Borja Claudia Nidia veronica Laura Lozano Liliana Beatriz Morana María Monica Salusso Facultad de Ciencias Naturales Universidad Nacional de SaltaAvenida Bolivia 5150Salta4400Argentina Consejo Nacional de Investigaciones Científicas y T'ecnicas(CONICET) Godoy Cruz 2290Ciudad Autonoma de Buenos AiresArgentina

Harmful algal blooms are important threats to reservoir *** a 15-year period,we sampled five Argentinian reservoirs to identify the responsible species for harmful algal blooms and determine the water quality factors driving their *** reservoirs exhibit diverse morphological and hydrological characteristics and are distributed across varying climatic *** blooms included an array of species,including toxin producers such as Raphidiopsis raciborskii,Aphanizomenon gracile,and Microcystis *** contrast,dinoflagellate blooms were predominantly characterized by *** cyanobacterial blooms primarily occurred in the shallower reservoirs located in warmer regions,whereas dinoflagellate blooms occurred where temperatures were *** most intense blooms occurred during the summer,and although cyanobacterial and chlorophyte blooms co-occurred,they never coexisted with dinoflagellate *** identified cyanotoxins in the reservoirs over the past three years,a phenomenon previously unreported in the *** that these reservoirs are drinking water sources for human populations,ongoing and systematic monitoring is needed to protect public *** the proliferation of algae and cyanobacteria in reservoirs requires resource management at the watershed level,and in the case of the Itiyuro and El Limon,requires binational management with Bolivia.

关键词： HABs Freshwater South America Toxins

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Liver abnormalities following SARS-CoV 2 infection in children 1 to 10 years of age

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Family Medicine and Community Health 2024年第1期12卷 28-35页

作者： Pauline Terebuh veronica R Olaker Ellen K Kendall David C Kaelber Rong Xu Pamela B Davis Center for Artificial Intelligence in Drug Discovery Case Western Reserve UniversityClevelandOHUSA The Center for Clinical Informatics Research and Education The MetroHealth SystemClevelandOHUSA Department of Medicine PediatricsDepartment of Population and Quantitative Health SciencesCase Western Reserve UniversityClevelandOHUSA Center for Community Health Integration Case Western Reserve UniversityClevelandOHUSA

Objective Beginning in October 2021 in the USA and elsewhere,cases of severe paediatric hepatitis of unknown aetiology were identified in young *** the adenovirus and adenovirus-associated virus have emerged as leading aetiological suspects,we attempted to investigate a potential role for SARS-CoV 2 in the development of subsequent liver *** We conducted a study using retrospective cohorts of deidentified,aggregated data from the electronic health records of over 100 million patients contributed by US healthcare *** Compared with propensity score matched children with other respiratory infections,children aged 1-10 years with COVID-19 had a higher risk of elevated transaminases(HR(95%CI)2.16(1.74 to 2.69))or total bilirubin(HR(95%CI)3.02(1.91 to 4.78)),or new diagnoses of liver diseases(HR(95%CI)1.67(1.21 to 2.30))from 1 to 6 months after *** with pre-existing liver abnormalities,liver abnormalities surrounding acute infection,younger age(1-4 years)or illness requiring hospitalisation all had similarly elevated *** who developed liver abnormalities following COVID-19 had more pre-existing conditions than those who developed abnormalities following other *** These results indicate that SARS-CoV 2 may prime the patient for subsequent development of liver infections or non-infectious liver *** rare(~1 in 1000),SARS-CoV 2 is a risk for subsequent abnormalities in liver function or the diagnosis of diseases of the liver.

关键词： elevated diagnosis subsequent

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Robotic management of urinary fistula

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Asian Journal of Urology 2024年第3期11卷 357-365页

作者： Luis G.Medina Randall A.Lee Valeria Celis veronica Rodriguez Jaime Poncel Aref S.Sayegh Rene Sotelo The Catherine and Joseph Aresty Department of Urology USC Institute of UrologyKeck School of MedicineUniversity of Southern CaliforniaLos AngelesCAUSA Division of Urology Department of SurgeryFox Chase Cancer CenterTemple University Health SystemPhiladelphiaPAUSA

Objectives:To highlight critical preoperative and intraoperative considerations in approaching fistula repair ***:A search of the literature was conducted to identify relevant articles pertaining to robotic management of urinary ***:Fistulae of the genitourinary tract can be a challenging dilemma for urologists,as definitive management may require surgical *** of both enteric and non-enteric fistulae are multifactorial,and successful repair hinges on the meticulous perioperative evaluation,planning,and *** open techniques can subject patients to increased morbidity and prolonged *** its introduction,the robotic surgical platform has continued to expand its *** three-dimensional visualization and tremor free wristed instrument movements have made the robotic platform an attractive option for genitourinary fistula ***:Robotic management of complex urinary fistulae is feasible in expert hands;more studies are needed to define its role in the treatment algorithm of this devastating conditions.

关键词： Fistula Robotic surgery Rectourethral Rectovesical Vesicovaginal

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