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Tytuł:
Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia.
Autorzy:
Tobik K; Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Orland KM; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Zhang X; Department of Pediatrics, Division of Pediatric Cardiology, School of Medicine and Public Health, University of Wisconsin, CSC H6/516B MC 4108, Madison, WI, 53792, USA.
Garcia K; Genetic Counseling Services, University of Wisconsin Hospital and Clinics, Madison, WI, USA.
Peterson AL; Department of Pediatrics, Division of Pediatric Cardiology, School of Medicine and Public Health, University of Wisconsin, CSC H6/516B MC 4108, Madison, WI, 53792, USA. .
Źródło:
Maternal and child health journal [Matern Child Health J] 2023 Jun; Vol. 27 (6), pp. 978-983. Date of Electronic Publication: 2023 Mar 25.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Hyperlipoproteinemia Type II*/diagnosis
Hyperlipoproteinemia Type II*/genetics
Child ; Humans ; Infant, Newborn ; Genetic Testing ; Mass Screening/methods ; Parents ; Attitude
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Establishing an ANO1-Based Cell Model for High-Throughput Screening Targeting TRPV4 Regulators.
Autorzy:
Zheng K; College of Laboratory Medicine, Jilin Medical University, Jilin 132000, China.
Hu J; College of Laboratory Medicine, Jilin Medical University, Jilin 132000, China.
Hu C; College of Laboratory Medicine, Jilin Medical University, Jilin 132000, China.
Liu X; School of Medical Technology, Beihua University, Jilin 132000, China.
Wang Y; School of Medical Technology, Beihua University, Jilin 132000, China.
Han H; College of Laboratory Medicine, Jilin Medical University, Jilin 132000, China.
Xing W; School of Medical Technology, Beihua University, Jilin 132000, China.
Yang L; School of Medical Technology, Beihua University, Jilin 132000, China.
Zhang J; Zhiyuan College, Shanghai Jiao Tong University, Shanghai 200240, China.
Hong Q; College of Laboratory Medicine, Jilin Medical University, Jilin 132000, China.
Hao F; College of Laboratory Medicine, Jilin Medical University, Jilin 132000, China.
Li W; Jilin Collaborative Innovation Center for Antibody Engineering, Jilin Medical University, Jilin 132000, China.
Źródło:
Molecules (Basel, Switzerland) [Molecules] 2024 Feb 28; Vol. 29 (5). Date of Electronic Publication: 2024 Feb 28.
Typ publikacji:
Journal Article
MeSH Terms:
TRPV Cation Channels*/metabolism
High-Throughput Screening Assays*
Anoctamin-1 ; Calcium/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Newborn Hearing Screening Results for Infants With Prenatal Opioid Exposure in Southern Appalachia.
Autorzy:
Hite MK; Department of Audiology and Speech Language Pathology, East Tennessee State University, Johnson City.
Chroust AJ; Department of Psychology, East Tennessee State University, Johnson City.
Proctor-Williams K; Department of Audiology and Speech Language Pathology, East Tennessee State University, Johnson City.
Lowe JL; Department of Audiology and Speech Language Pathology, East Tennessee State University, Johnson City.
Źródło:
Journal of speech, language, and hearing research : JSLHR [J Speech Lang Hear Res] 2024 Apr 08; Vol. 67 (4), pp. 1268-1280. Date of Electronic Publication: 2024 Mar 22.
Typ publikacji:
Journal Article
MeSH Terms:
Analgesics, Opioid*
Neonatal Screening*
Infant, Newborn ; Infant ; Female ; Pregnancy ; Humans ; Retrospective Studies ; Noise ; Hearing/physiology ; Evoked Potentials, Auditory, Brain Stem/physiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
'Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives.
Autorzy:
Kariyawasam DS; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
Scarfe J; Faculty of Medicine and Health, Sydney School of Public Health, Menzies Centre for Health Policy & Economics, The University of Sydney, Camperdown, New South Wales, Australia.
Meagher C; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
Farrar MA; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
Bhattacharya K; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Randwick and Westmead, New South Wales, Australia.; Faculty of Medicine and Health, Discipline of Genomics, Sydney University, Westmead, New South Wales, Australia.
Carter SM; Australian Centre for Health Engagement, Evidence and Values, School of Health and Society, The University of Wollongong, Wollongong, New South Wales, Australia.
Newson AJ; Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Otlowski M; Centre for Law and Genetics, Faculty of Law, College of Arts, Law and Education, University of Tasmania, Tasmania, Australia.
Watson J; HTA Consumer Consultative Committee, Department of Health & Aged Care, Canberra, Australian Capital Territory, Australia.
Millis N; Rare Voices Australia, Mentone, Victoria, Australia.
Norris S; Faculty of Medicine and Health, Sydney School of Public Health, Menzies Centre for Health Policy & Economics, The University of Sydney, Camperdown, New South Wales, Australia.
Źródło:
PloS one [PLoS One] 2024 Mar 25; Vol. 19 (3), pp. e0299336. Date of Electronic Publication: 2024 Mar 25 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Genome*
Infant ; Child ; Humans ; Infant, Newborn ; Genomics ; Parents ; Qualitative Research
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Bayesian inference of relative fitness on high-throughput pooled competition assays.
Autorzy:
Razo-Mejia M; Department of Biology, Stanford University, Stanford, California, United States of America.
Mani M; NSF-Simons Center for Quantitative Biology, Northwestern University, Chicago, Illinois, United States of America.; Department of Engineering Sciences and Applied Mathematics, Northwestern University, Chicago, Illinois, United States of America.
Petrov D; Department of Biology, Stanford University, Stanford, California, United States of America.; Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, United States of America.; Chan Zuckerberg Biohub, San Francisco, California, United States of America.
Źródło:
PLoS computational biology [PLoS Comput Biol] 2024 Mar 15; Vol. 20 (3), pp. e1011937. Date of Electronic Publication: 2024 Mar 15 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Software*
High-Throughput Screening Assays*
Bayes Theorem ; Sequence Analysis, DNA ; Gene Library
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The DTC microbiome testing industry needs more regulation.
Autorzy:
Hoffmann DE; University of Maryland School of Law, Baltimore, MD, USA.
von Rosenvinge EC; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Veterans Affairs Maryland Health Care System, Baltimore, MD, USA.
Roghmann MC; Veterans Affairs Maryland Health Care System, Baltimore, MD, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Epidemiology and Public Health, University of Maryland School of Medicine, Baltimore, MD, USA.
Palumbo FB; University of Maryland School of Pharmacy, Baltimore, MD, USA.; Baker & Hostetler, Washington, DC, USA.
McDonald D; Department of Pediatrics, University of California San Diego School of Medicine, La Jolla, CA, USA.
Ravel J; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Microbiology and Immunology, University of Maryland School of Medicine, Baltimore, MD, USA.
Źródło:
Science (New York, N.Y.) [Science] 2024 Mar 15; Vol. 383 (6688), pp. 1176-1179. Date of Electronic Publication: 2024 Mar 14.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*/standards
Direct-To-Consumer Screening and Testing*/standards
Microbiota*/genetics
Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Efforts to screen kids for type 1 diabetes multiply.
Autorzy:
Couzin-Frankel J
Źródło:
Science (New York, N.Y.) [Science] 2024 Mar 15; Vol. 383 (6688), pp. 1164-1165. Date of Electronic Publication: 2024 Mar 14.
Typ publikacji:
News
MeSH Terms:
Diabetes Mellitus, Type 1*/blood
Diabetes Mellitus, Type 1*/diagnosis
Diabetes Mellitus, Type 1*/prevention & control
Early Diagnosis*
Mass Screening*
Autoantibodies*/blood
Humans ; Child, Preschool ; Antibodies, Monoclonal, Humanized/therapeutic use
Periodyk
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
"High-throughput screening of catalytically active inclusion bodies using laboratory automation and Bayesian optimization".
Autorzy:
Helleckes LM; Institute of Bio- and Geosciences IBG-1: Biotechnology, Forschungszentrum Jülich GmbH, 52425, Jülich, Germany.; Institute of Biotechnology, RWTH Aachen University, 52074, Aachen, Germany.
Küsters K; Institute of Bio- and Geosciences IBG-1: Biotechnology, Forschungszentrum Jülich GmbH, 52425, Jülich, Germany.; Institute of Biotechnology, RWTH Aachen University, 52074, Aachen, Germany.
Wagner C; Institute of Bio- and Geosciences IBG-1: Biotechnology, Forschungszentrum Jülich GmbH, 52425, Jülich, Germany.; Institute of Biotechnology, RWTH Aachen University, 52074, Aachen, Germany.
Hamel R; Institute of Bio- and Geosciences IBG-1: Biotechnology, Forschungszentrum Jülich GmbH, 52425, Jülich, Germany.; Institute of Biotechnology, RWTH Aachen University, 52074, Aachen, Germany.
Saborowski R; Institute of Bio- and Geosciences IBG-1: Biotechnology, Forschungszentrum Jülich GmbH, 52425, Jülich, Germany.
Marienhagen J; Institute of Bio- and Geosciences IBG-1: Biotechnology, Forschungszentrum Jülich GmbH, 52425, Jülich, Germany.; Institute of Biotechnology, RWTH Aachen University, 52074, Aachen, Germany.
Wiechert W; Institute of Bio- and Geosciences IBG-1: Biotechnology, Forschungszentrum Jülich GmbH, 52425, Jülich, Germany.; Computational Systems Biotechnology (AVT.CSB), RWTH Aachen University, 52074, Aachen, Germany.
Oldiges M; Institute of Bio- and Geosciences IBG-1: Biotechnology, Forschungszentrum Jülich GmbH, 52425, Jülich, Germany. .; Institute of Biotechnology, RWTH Aachen University, 52074, Aachen, Germany. .
Źródło:
Microbial cell factories [Microb Cell Fact] 2024 Feb 24; Vol. 23 (1), pp. 67. Date of Electronic Publication: 2024 Feb 24.
Typ publikacji:
Journal Article
MeSH Terms:
Automation, Laboratory*
High-Throughput Screening Assays*
Reproducibility of Results ; Bayes Theorem ; Inclusion Bodies ; Automation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China: value and affordability of new screening technology.
Autorzy:
Yu M; School of Medicine and Health Management, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.
Xu J; School of Medicine and Health Management, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China. .; Hubei Provincial Research Center for Health Technology Assessment, Wuhan, China. .
Song X; Department of Family Development and Maternal and Child Health, Shenzhen Municipal Health Commission, Shenzhen, China.
Du J; Department of Science and Education, the Fourth Affiliated Hospital of School of Medicine, Zhejiang University, Zhejiang, China.
Źródło:
BMC health services research [BMC Health Serv Res] 2022 Aug 15; Vol. 22 (1), pp. 1039. Date of Electronic Publication: 2022 Aug 15.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*/methods
Tandem Mass Spectrometry*
Cost-Benefit Analysis ; Humans ; Infant, Newborn ; Mass Screening ; Quality-Adjusted Life Years ; Technology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
PICLS with human cells is the first high throughput screening method for identifying novel compounds that extend lifespan.
Autorzy:
Alfatah M; Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street, Matrix #07-01, Singapore, 138671, Republic of Singapore. .
Zhang Y; Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street, Matrix #07-01, Singapore, 138671, Republic of Singapore.
Naaz A; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.
Cheng TYN; Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street, Matrix #07-01, Singapore, 138671, Republic of Singapore.
Eisenhaber F; Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street, Matrix #07-01, Singapore, 138671, Republic of Singapore.; LASA - Lausitz Advanced Scientific Applications gGmbH, Straße der Einheit 2-24, 02943, Weißwasser, Federal Republic of Germany.; School of Biological Sciences (SBS), Nanyang Technological University (NTU), Singapore, 637551, Republic of Singapore.
Źródło:
Biology direct [Biol Direct] 2024 Jan 23; Vol. 19 (1), pp. 8. Date of Electronic Publication: 2024 Jan 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Longevity*
High-Throughput Screening Assays*
Humans ; Cell Line ; Mannitol ; Reproduction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A digital intake tool to avert outpatient visits in a FIT-based colorectal cancer screening population: study protocol of a multicentre, prospective non-randomized trial - the DIT-trial.
Autorzy:
Marijnissen FE; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
de Jonge PJF; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Erler NS; Department of Biostatistics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Ismail SY; Department of Psychiatry, Section Medical Psychology and Psychotherapy, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Lansdorp-Vogelaar I; Department of Public Health, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Spaander MCW; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands. .
Źródło:
BMC gastroenterology [BMC Gastroenterol] 2024 Jan 18; Vol. 24 (1), pp. 38. Date of Electronic Publication: 2024 Jan 18.
Typ publikacji:
Clinical Trial Protocol; Journal Article
MeSH Terms:
Colorectal Neoplasms*/diagnosis
Mass Screening*/methods
Humans ; Colonoscopy/methods ; Early Detection of Cancer/methods ; Multicenter Studies as Topic ; Occult Blood ; Outpatients ; Prospective Studies ; Clinical Trials as Topic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Autorzy:
Cao Z; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
He X; Center for Clinical Molecular Laboratory Medicine of Children's Hospital of Chongqing Medical University, Chongqing, China.
Wang D; Center for Clinical Molecular Laboratory Medicine of Children's Hospital of Chongqing Medical University, Chongqing, China.
Gu M; Center of Medical Genetics, Xuzhou Maternal and Child Health Care Hospital, Xuzhou, China.
Suo F; Center of Medical Genetics, Xuzhou Maternal and Child Health Care Hospital, Xuzhou, China.
Qiang R; Center of Medical Genetics, Northwest Women and Children's Hospital, Xi'an, China.
Zhang R; Center of Medical Genetics, Northwest Women and Children's Hospital, Xi'an, China.
Song C; Center of Medical Genetics, Northwest Women and Children's Hospital, Xi'an, China.
Wang X; Center of Medical Genetics, Inner Mongolia Maternal and Child Health Care Hospital, Hohhot, China.
Zhu B; Center of Medical Genetics, Inner Mongolia Maternal and Child Health Care Hospital, Hohhot, China.
Cao D; Medical Genetic Laboratory, Dalian Municipal Women and Children's Medical Center (Group), Dalian, China.; Genetic Laboratory, Shenyang Jinghua Hospital Co., Ltd, Shenyang, China.
Yu H; Medical Genetic Laboratory, Dalian Municipal Women and Children's Medical Center (Group), Dalian, China.
Qu Y; Newborn Screening Center of Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Shen G; Medical Laboratory Center of Huzhou Maternal and Child Health Care Hospital, Huzhou, China.
Wu J; Research and Development Department, MyGenostics Inc., Beijing, China.
Wang P; Research and Development Department, MyGenostics Inc., Beijing, China.
Wang J; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zhang H; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yan Z; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yu G; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zou L; Clinical Research Unit, Shanghai Children's Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.; Institute of Pediatric Infection, Immunity, and Critical Care Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Center for Clinical Molecular Laboratory Medicine of Children's Hospital of Chongqing Medical University, Chongqing, China.
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2357.
Typ publikacji:
Multicenter Study; Journal Article
MeSH Terms:
Neonatal Screening*/methods
High-Throughput Nucleotide Sequencing*/methods
Humans ; Infant, Newborn ; Pilot Projects ; Exome Sequencing ; Genotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
DMSO-tolerant ornithine decarboxylase (ODC) tandem assay optimised for high-throughput screening.
Autorzy:
Park MG; KU-KIST Graduate School of Converging Science and Technology, Korea University, Seoul, South Korea.; Center for Cognition and Sociality, Institute for Basic Science (IBS), Daejeon, South Korea.
Kim SY; Center for Cognition and Sociality, Institute for Basic Science (IBS), Daejeon, South Korea.
Lee CJ; KU-KIST Graduate School of Converging Science and Technology, Korea University, Seoul, South Korea.; Center for Cognition and Sociality, Institute for Basic Science (IBS), Daejeon, South Korea.
Źródło:
Journal of enzyme inhibition and medicinal chemistry [J Enzyme Inhib Med Chem] 2023 Dec; Vol. 38 (1), pp. 309-318.
Typ publikacji:
Journal Article
MeSH Terms:
Ornithine Decarboxylase*
High-Throughput Screening Assays*
Humans ; Dimethyl Sulfoxide ; Biological Assay ; Putrescine
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Deploying blood-based cancer screening.
Autorzy:
Micalizzi DS; Krantz Family Center for Cancer Research, Massachusetts General Hospital Cancer Center, Harvard Medical School, Charlestown, MA, USA.; Department of Medicine and Massachusetts General Hospital Cancer Center, Harvard Medical, School, Boston, MA, USA.
Sequist LV; Department of Medicine and Massachusetts General Hospital Cancer Center, Harvard Medical, School, Boston, MA, USA.
Haber DA; Krantz Family Center for Cancer Research, Massachusetts General Hospital Cancer Center, Harvard Medical School, Charlestown, MA, USA.; Department of Medicine and Massachusetts General Hospital Cancer Center, Harvard Medical, School, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
Źródło:
Science (New York, N.Y.) [Science] 2024 Jan 26; Vol. 383 (6681), pp. 368-370. Date of Electronic Publication: 2024 Jan 25.
Typ publikacji:
Journal Article
MeSH Terms:
Early Detection of Cancer*/methods
Mass Screening*/methods
Neoplasms*/blood
Neoplasms*/diagnosis
Blood Chemical Analysis*/methods
Humans ; Artificial Intelligence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Decoding endocrine cell differentiation: insights from high-throughput CRISPR screening in human gut organoids.
Autorzy:
Lin L; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and UMC Utrecht, Utrecht, The Netherlands.; Oncode Institute, Utrecht, The Netherlands.; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Clevers H; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and UMC Utrecht, Utrecht, The Netherlands.; Oncode Institute, Utrecht, The Netherlands.; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Źródło:
Clinical and translational medicine [Clin Transl Med] 2024 Jan; Vol. 14 (1), pp. e1526.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Clustered Regularly Interspaced Short Palindromic Repeats*
High-Throughput Screening Assays*
Humans ; Cell Differentiation/genetics ; Organoids
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of audiological outcomes of children referred from a universal newborn hearing screening program over 9 years in Beijing, China.
Autorzy:
Li Y; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Yang X; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Wang C; Maternal and Child Health Hospital of Chao Yang District, Beijing, China.
Cheng X; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Qi B; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
En H; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Wen C; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Yu Y; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Deng L; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Liu D; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Fu X; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.; Ear Science Institute Australia, Subiaco, WA, Australia.
Liu H; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Otolaryngology, Beijing, China.; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
Huang L; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China. .; Beijing Institute of Otolaryngology, Beijing, China. .; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China. .
Źródło:
Scientific reports [Sci Rep] 2023 Dec 19; Vol. 13 (1), pp. 22630. Date of Electronic Publication: 2023 Dec 19.
Typ publikacji:
Journal Article
MeSH Terms:
Evoked Potentials, Auditory, Brain Stem*
Neonatal Screening*/methods
Infant, Newborn ; Child ; Humans ; Beijing/epidemiology ; Retrospective Studies ; Hearing Tests/methods ; Otoacoustic Emissions, Spontaneous/physiology ; Infant, Very Low Birth Weight
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Newborn screening for sickle cell disease in Kisangani, Democratic Republic of the Congo: an update.
Autorzy:
Kasai ET; Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Gulbis B; Department of Clinical Chemistry, Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium.
Ntukamunda JK; Department of Pharmacy, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Bours V; Biochemical Genetics Laboratory, Human Genetics, CHU of Liège, University of Liège, Liège, Belgium.
Batina Agasa S; Department of Internal Medicine, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Marini Djang'eing'a R; Department of Clinical Chemistry, Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium.; Laboratory of Analytical Pharmaceutical Chemistry, Faculty of Medicine, University of Liège, Liège, Belgium.
Boemer F; Biochemical Genetics Laboratory, Human Genetics, CHU of Liège, University of Liège, Liège, Belgium.
Katenga Bosunga G; Department of Obstetrics and Gynecology, Kisangani University Clinics, University of Kisangani, Kisangani, The Democratic Republic of the Congo.
Ngbonda Dauly N; Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Sokoni Vutseme J; Department of Anthropology, Faculty of Social, Administrative and Political Sciences, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Boso Mokili B; Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Alworong'a Opara JP; Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Źródło:
Hematology (Amsterdam, Netherlands) [Hematology] 2023 Dec; Vol. 28 (1), pp. 2213043.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Anemia, Sickle Cell*/diagnosis
Anemia, Sickle Cell*/epidemiology
Anemia, Sickle Cell*/genetics
Infant ; Infant, Newborn ; Child ; Humans ; Democratic Republic of the Congo/epidemiology ; Hemoglobin, Sickle/genetics ; Point-of-Care Testing ; Hemoglobin A
Czasopismo naukowe
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Tytuł:
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Autorzy:
Garnier N; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Berghout J; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Zygmunt A; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Singh D; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Huang KA; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Kantz W; Pfizer Inc., Collegeville, Pennsylvania, United States of America.
Blankart CR; KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland.
Gillner S; KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland.
Zhao J; Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark.
Roettger R; Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark.
Saier C; Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Kirschner J; Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Schenk J; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.
Atkins L; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.
Ryan N; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.
Zarakowska K; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.
Zschüntzsch J; Department of Neurology, University Medical Center Goettingen, Göttingen, Germany.
Zuccolo M; F. Hoffmann La-Roche, Basel, Switzerland.
Müllenborn M; Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark.
Man YS; Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark.
Goodman L; University College Dublin, National University of Ireland, Dublin, Ireland.
Trad M; Lysogene, Neuilly-sur-Seine, France.
Chalandon AS; Sanofi, Diegem, Belgium.
Sansen S; Sanofi, Diegem, Belgium.
Martinez-Fresno M; Illumina, Cambridge, United Kingdom.
Badger S; Illumina, Cambridge, United Kingdom.
Walther van Olden R; Novartis Gene Therapies Switzerland GmbH, Risch-Rotkreuz, Switzerland.
Rothmann R; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.
Lehner P; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.
Tschohl C; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.
Baillon L; PTC Therapeutics Switzerland GmbH, Steinhausen, Switzerland.
Gumus G; EURORDIS, Paris, France.
Gross E; EURORDIS, Paris, France.
Stefanov R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Iskrov G; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Raycheva R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Kostadinov K; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Mitova E; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Einhorn M; Genoox, Tel Aviv, Israel.
Einhorn Y; Genoox, Tel Aviv, Israel.
Schepers J; Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany.
Hübner M; Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany.
Alves F; Translational Molecular Imaging, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Clinic of Hematology and Medical Oncology, University Medical Center, Göttingen, Germany.; Institute for Diagnostic and Interventional Radiology, University Medical Center, Göttingen, Germany.
Iskandar R; Swiss Institute for Translational and Entrepreneurial Medicine (sitem-insel), Bern, Switzerland.
Mayer R; SBA Research gGmbH, Wien, Austria.
Renieri A; Medical Genetics, University of Siena, Siena, Italy.
Piperkova A; Bulgarian Association for Personalized Medicine, Sofia, Bulgaria.
Gut I; Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain.
Beltran S; Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain.
Matthiesen ME; FindZebra APS, Copenhagen, Denmark.
Poetz M; Department of Strategy and Innovation, Copenhagen Business School, Copenhagen, Denmark.
Hansson M; Uppsala University, Uppsala, Sweden.
Trollmann R; University of Erlangen, Erlangen, Germany.
Agolini E; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.
Ottombrino S; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.
Novelli A; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.
Bertini E; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.
Selvatici R; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Farnè M; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Fortunato F; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Ferlini A; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Źródło:
PloS one [PLoS One] 2023 Nov 22; Vol. 18 (11), pp. e0293503. Date of Electronic Publication: 2023 Nov 22 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*/methods
Rare Diseases*/diagnosis
Rare Diseases*/epidemiology
Rare Diseases*/genetics
Infant, Newborn ; Humans ; Child ; Artificial Intelligence ; Digital Technology ; Europe
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Eureka moments in pediatric retina screening.
Autorzy:
Bhayana AA; Department of Ophthalmology, AIIMS, Bhopal, Madhya Pradesh, India.
Siddiqui SA; Department of Ophthalmology, AIIMS, Bhopal, Madhya Pradesh, India.
Rajamathangi S; Department of Ophthalmology, AIIMS, Bhopal, Madhya Pradesh, India.
Sharma BB; Department of Ophthalmology, AIIMS, Bhopal, Madhya Pradesh, India.
Khokhar SK; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India.
Źródło:
Indian journal of ophthalmology [Indian J Ophthalmol] 2023 Nov; Vol. 71 (11), pp. 3575.
Typ publikacji:
Letter; Comment
MeSH Terms:
Mass Screening*
Clinical Competence*
Humans ; Child ; Retina
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Assessment of hearing screening programmes across 47 countries or regions III: provision of childhood hearing screening after the newborn period.
Autorzy:
Bussé AML; Department of Otorhinolaryngology and Head, Neck Surgery and Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Mackey AR; CLINTEC, Karolinska Institutet, Stockholm, Sweden.
Carr G; Early Hearing Detection, Intervention and Family Centered Practice, London, UK.
Hoeve HLJ; Department of Otorhinolaryngology and Head, Neck Surgery and Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Uhlén IM; CLINTEC, Karolinska Institutet, Stockholm, Sweden.
Goedegebure A; Department of Otorhinolaryngology and Head, Neck Surgery and Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Simonsz HJ; Department of Otorhinolaryngology and Head, Neck Surgery and Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Corporate Authors:
EUS€REEN Foundation
Źródło:
International journal of audiology [Int J Audiol] 2021 Nov; Vol. 60 (11), pp. 841-848. Date of Electronic Publication: 2021 Apr 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hearing Tests*
Mass Screening*
Audiometry, Pure-Tone ; Child, Preschool ; Hearing ; Humans ; Infant, Newborn ; Neonatal Screening ; Referral and Consultation ; Surveys and Questionnaires
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 395428

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