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Wyszukujesz frazę ""Down Syndrome"" wg kryterium: Temat


Starter badań:

Tytuł:
Outcomes of surgical treatment of patellar instability in children with Down syndrome.
Autorzy:
Zein A; Department of Orthopaedics and Trauma Surgery, Minia University, Minia, Egypt. zein_.
Hassan AZM; Minia University, Minia, Egypt.
Soliman AM; Minia University, Minia, Egypt.
Mohamed MMA; Minia University, Minia, Egypt.
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Źródło:
Journal of orthopaedic surgery and research [J Orthop Surg Res] 2024 Apr 25; Vol. 19 (1), pp. 263. Date of Electronic Publication: 2024 Apr 25.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/complications
Down Syndrome*/surgery
Joint Instability*/surgery
Joint Instability*/diagnostic imaging
Joint Instability*/etiology
Humans ; Male ; Female ; Child ; Retrospective Studies ; Adolescent ; Treatment Outcome ; Child, Preschool ; Patellofemoral Joint/surgery ; Patellofemoral Joint/diagnostic imaging ; Follow-Up Studies ; Patellar Dislocation/surgery ; Patellar Dislocation/diagnostic imaging ; Plastic Surgery Procedures/methods ; Orthopedic Procedures/methods
Czasopismo naukowe
Tytuł:
Kidney and urogenital abnormalities in Down syndrome: a meta-analysis.
Autorzy:
Rossetti CM; Pediatric Institute of Southern Switzerland, Ente Ospedaliero Cantonale, Bellinzona, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, via Buffi 13, Lugano, Switzerland.
Simonetti GD; Pediatric Institute of Southern Switzerland, Ente Ospedaliero Cantonale, Bellinzona, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, via Buffi 13, Lugano, Switzerland.
Bianchetti MG; Pediatric Institute of Southern Switzerland, Ente Ospedaliero Cantonale, Bellinzona, Switzerland. .; Faculty of Biomedical Sciences, Università della Svizzera Italiana, via Buffi 13, Lugano, Switzerland. .
Lava SAG; Pediatric Cardiology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland.; Heart Failure and Transplantation, Department of Paediatric Cardiology, Great Ormond Street Hospital, London, UK.
Treglia G; Faculty of Biomedical Sciences, Università della Svizzera Italiana, via Buffi 13, Lugano, Switzerland.; Academic Education, Research and Innovation Area, General Directorate, Ente Ospedaliero Cantonale, Bellinzona, Switzerland.
Agostoni C; Pediatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.
Milani GP; Pediatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.
de Winter JP; Department of Development and Regeneration, Leuven, Belgium.; Department of Pediatrics, Spaarne Gasthuis, Haarlem/Hoofddorp, The Netherlands.; Leuven Child and Youth Institute, Leuven, Belgium.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2024 Apr 20; Vol. 50 (1), pp. 79. Date of Electronic Publication: 2024 Apr 20.
Typ publikacji:
Meta-Analysis; Journal Article
MeSH Terms:
Down Syndrome*/complications
Down Syndrome*/epidemiology
Urinary Tract*/abnormalities
Urogenital Abnormalities*/complications
Urogenital Abnormalities*/epidemiology
Humans ; Kidney/abnormalities
Czasopismo naukowe
Tytuł:
COVID-19 in patients with Down syndrome: A systematic review.
Autorzy:
Pitchan Velammal PNK; Department of Medicine, Tirunelveli Medical College and Hospital, Tirunelveli, India.
Balasubramanian S; Department of Medicine, Velammal Medical College Hospital and Research Institute, Madurai, India.
Ayoobkhan FS; Department of Medicine, Tirunelveli Medical College and Hospital, Tirunelveli, India.
Mohan GVK; Department of Medicine, Tirunelveli Medical College and Hospital, Tirunelveli, India.
Aggarwal P; Department of Medicine, St Vincent Charity Medical Center, Cleveland, Ohio, USA.
Rabaan AA; Department of Medicine, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.; Department of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medicine, The University of Haripur, Haripur, Pakistan.
Khan SA; Critical Care Medicine, Mayo Clinic Health System, Mankato, Minnesota, USA.
Yasmin F; Department of Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.
Koritala T; Critical Care Medicine, Mayo Clinic Health System, Mankato, Minnesota, USA.
Surani SR; Department of Medicine & Pharmacology, Texas A&M University, College Station, Texas, USA.; Department of Medicine & Pharmacology, Research Collaborator, Mayo Clinic, Rochester, Minnesota, USA.
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Źródło:
Immunity, inflammation and disease [Immun Inflamm Dis] 2024 Mar; Vol. 12 (3), pp. e1219.
Typ publikacji:
Systematic Review; Journal Article; Review
MeSH Terms:
COVID-19*
Down Syndrome*/complications
Down Syndrome*/epidemiology
Lymphopenia*
Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Cough/epidemiology ; SARS-CoV-2 ; Infant, Newborn ; Infant ; Child, Preschool ; Adolescent ; Young Adult
Czasopismo naukowe
Tytuł:
Mitovesicles secreted into the extracellular space of brains with mitochondrial dysfunction impair synaptic plasticity.
Autorzy:
D'Acunzo P; Center for Dementia Research, Nathan S. Kline Institute for Psychiatric Research, 10962, Orangeburg, NY, USA.; Department of Psychiatry, New York University Grossman School of Medicine, 10016, New York, NY, USA.
Argyrousi EK; Department of Pathology and Cell Biology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, 10027, New York, NY, USA.; Department of Medicine, Columbia University, 10027, New York, NY, USA.
Ungania JM; Center for Dementia Research, Nathan S. Kline Institute for Psychiatric Research, 10962, Orangeburg, NY, USA.
Kim Y; Center for Dementia Research, Nathan S. Kline Institute for Psychiatric Research, 10962, Orangeburg, NY, USA.; Department of Psychiatry, New York University Grossman School of Medicine, 10016, New York, NY, USA.
DeRosa S; Center for Dementia Research, Nathan S. Kline Institute for Psychiatric Research, 10962, Orangeburg, NY, USA.
Pawlik M; Center for Dementia Research, Nathan S. Kline Institute for Psychiatric Research, 10962, Orangeburg, NY, USA.
Goulbourne CN; Center for Dementia Research, Nathan S. Kline Institute for Psychiatric Research, 10962, Orangeburg, NY, USA.
Arancio O; Department of Pathology and Cell Biology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, 10027, New York, NY, USA.; Department of Medicine, Columbia University, 10027, New York, NY, USA.
Levy E; Center for Dementia Research, Nathan S. Kline Institute for Psychiatric Research, 10962, Orangeburg, NY, USA. .; Department of Psychiatry, New York University Grossman School of Medicine, 10016, New York, NY, USA. .; Department of Biochemistry & Molecular Pharmacology, New York University Grossman School of Medicine, 10027, New York, NY, USA. .; NYU Neuroscience Institute, New York University Grossman School of Medicine, 10016, New York, NY, USA. .
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Źródło:
Molecular neurodegeneration [Mol Neurodegener] 2024 Apr 14; Vol. 19 (1), pp. 34. Date of Electronic Publication: 2024 Apr 14.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*
Alzheimer Disease*
Mitochondrial Diseases*
Humans ; Animals ; Mice ; Extracellular Space ; Neuronal Plasticity ; Brain ; Disease Models, Animal ; Monoamine Oxidase
Czasopismo naukowe
Tytuł:
Beyond Quiescent and Active: Intermediate Microglial Transcriptomic States in a Mouse Model of Down Syndrome.
Autorzy:
Fernández-Blanco Á; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, 08003 Barcelona, Spain.
Sierra C; Laboratory of Neuroepigenetics, Brain Mind Institute, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), 1015 Lausanne, Switzerland.
Tejido C; Neuroimmunology and Brain Tumor Immunology (D170), German Cancer Research Center, 69120 Heidelberg, Germany.
Dierssen M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, 08003 Barcelona, Spain.; Human Pharmacology and Clinical Neurosciences Research Group, Neurosciences Research Program, Hospital del Mar Medical Research Institute (IMIM), 08003 Barcelona, Spain.; Universitat Pompeu Fabra (UPF), 08003 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 14; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 14.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/metabolism
Alzheimer Disease*/metabolism
Animals ; Mice ; Humans ; Microglia/metabolism ; Gene Expression Profiling ; Neuroglia/metabolism
Czasopismo naukowe
Tytuł:
Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?
Autorzy:
Chapman LR; Sheffield Children's NHS Foundation Trust, Clarkson St, Sheffield S10 2TH, UK.; Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK.
Ramnarine IVP; Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK.
Zemke D; Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK.
Majid A; Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK.; Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2GJ, UK.
Bell SM; Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK.; Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2GJ, UK.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 04; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 04.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Down Syndrome*/metabolism
Intellectual Disability*
Pregnancy ; Female ; Humans ; Core Binding Factor Alpha 2 Subunit/genetics ; Phenotype ; Gene Expression
Czasopismo naukowe
Tytuł:
Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers.
Autorzy:
Spinazzi NA; Division of Primary Care, Department of Pediatrics, UCSF Benioff Children's Hospital Oakland, 5220 Claremont Ave, Oakland, CA, USA. .
Velasco AB; Graduate Medical Education, Department of Pediatrics, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.; Lucille Packard Children's Hospital Stanford, Palo Alto, USA.
Wodecki DJ; School of Medicine, University of California-Davis, Davis, CA, USA.
Patel L; Division of Child and Adolescent Mental Health, Department of Psychiatry, Children's Hospital Colorado and University of Colorado, Aurora, CO, USA.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Mar; Vol. 54 (3), pp. 1171-1180. Date of Electronic Publication: 2023 Jan 09.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/diagnosis
Down Syndrome*/diagnosis
Child ; Humans ; Caregivers ; Caregiver Burden ; Communication
Czasopismo naukowe
Tytuł:
The implementation and impact of non-invasive prenatal testing (NIPT) for Down's syndrome into antenatal screening programmes: A systematic review and meta-analysis.
Autorzy:
Sebire E; Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, The University of Aberdeen, Aberdeen, Scotland.
Rodrigo CH; Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, The University of Aberdeen, Aberdeen, Scotland.
Bhattacharya S; Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, The University of Aberdeen, Aberdeen, Scotland.
Black M; Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, The University of Aberdeen, Aberdeen, Scotland.
Wood R; Department of Covid-19 Health Protection Response, Public Health Scotland, Edinburgh, Scotland.
Vieira R; Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, The University of Aberdeen, Aberdeen, Scotland.
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Źródło:
PloS one [PLoS One] 2024 May 16; Vol. 19 (5), pp. e0298643. Date of Electronic Publication: 2024 May 16 (Print Publication: 2024).
Typ publikacji:
Journal Article; Systematic Review; Meta-Analysis
MeSH Terms:
Down Syndrome*/diagnosis
Noninvasive Prenatal Testing*/methods
Prenatal Diagnosis*/methods
Humans ; Female ; Pregnancy ; Pregnancy Outcome
Czasopismo naukowe
Tytuł:
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.
Autorzy:
Santoro JD; Division of Neuroimmunology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.; Department of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.
Khoshnood MM; Division of Neuroimmunology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Jafarpour S; Division of Neuroimmunology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Nguyen L; Division of Neuroimmunology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Boyd NK; Division of Neuroimmunology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Vogel BN; Division of Neuroimmunology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Kammeyer R; Department of Neurology, Children's Hospital Colorado, Aurora, Colorado, USA.
Patel L; Department of Neurology, Children's Hospital Colorado, Aurora, Colorado, USA.; Department of Pharmacology, Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Manning MA; Department of Genetics, Stanford University School of Medicine, Palo Alto, California, USA.
Rachubinski AL; Department of Pharmacology, Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Filipink RA; Division of Child Neurology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Baumer NT; Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Santoro SL; Genetics and Metabolism Division, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Franklin C; Mater Research Institute-UQ, The University of Queensland, Brisbane, Queensland, Australia.
Tamrazi B; Department of Radiology, Children's Hospital Los Angeles and Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.
Yeom KW; Department of Radiology, Stanford University School of Medicine, Palo Alto, California, USA.
Worley G; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Espinosa JM; Department of Pharmacology, Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Rafii MS; Department of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Alzheimer's Therapeutic Research Institute, Keck School of Medicine of the University of Southern California, San Diego, California, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Apr; Vol. 11 (4), pp. 1034-1045. Date of Electronic Publication: 2024 Feb 20.
Typ publikacji:
Multicenter Study; Journal Article
MeSH Terms:
Down Syndrome*/therapy
Humans ; Retrospective Studies ; Case-Control Studies ; Neuroimaging/methods ; Immunotherapy
Czasopismo naukowe
Tytuł:
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Autorzy:
Olayiwola JO; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Marhabaie M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Koboldt D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Matthews T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Siemon A; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Mouhlas D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Porter T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Kyle G; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Myers C; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Mei H; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Hou YC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Babcock M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Hunter J; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Schieffer KM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Akkari Y; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Reshmi S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Cottrell C; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Mathew MT; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Leung ML; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2349. Date of Electronic Publication: 2024 Jan 23.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Down Syndrome*
Female ; Humans ; Pregnancy ; Fetal Death ; Prenatal Diagnosis/methods ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Detection of transient abnormal myelopoiesis blasts in a liver biopsy specimen by double-immunostaining for full-length GATA1 and CD42b.
Autorzy:
Haba A; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Imaizumi Y; Department of Tumor Pathology, Gifu University Graduate School of Medicine, Gifu, Japan.
Hayashi D; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Yasue S; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Otsuka H; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Endo S; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Ozeki M; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Kobayashi K; Department of Diagnostic Pathology, Gifu University Hospital, Gifu, Japan.
Miyazaki T; Department of Diagnostic Pathology, Gifu University Hospital, Gifu, Japan.
Hara A; Department of Tumor Pathology, Gifu University Graduate School of Medicine, Gifu, Japan.
Ohnishi H; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
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Źródło:
Hematology (Amsterdam, Netherlands) [Hematology] 2023 Dec; Vol. 28 (1), pp. 2240135.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*
Male ; Humans ; Infant ; Leukocytes ; Biopsy ; Liver ; GATA1 Transcription Factor
SCR Disease Name:
Myeloproliferative Syndrome, Transient
Czasopismo naukowe
Tytuł:
Measurement of synaptic density in Down syndrome using PET imaging: a pilot study.
Autorzy:
DiFilippo A; Madison School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA. .
Jonaitis E; Madison School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Makuch R; University of Wisconsin-Madison Waisman Center, Madison, WI, USA.
Gambetti B; University of Wisconsin-Madison Waisman Center, Madison, WI, USA.
Fleming V; University of Wisconsin-Madison Waisman Center, Madison, WI, USA.
Ennis G; Madison School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Barnhart T; Madison School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Engle J; Madison School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Bendlin B; Madison School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Johnson S; Madison School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Handen B; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA.
Krinsky-McHale S; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Hartley S; University of Wisconsin-Madison Waisman Center, Madison, WI, USA.
Christian B; Madison School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.; University of Wisconsin-Madison Waisman Center, Madison, WI, USA.
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Źródło:
Scientific reports [Sci Rep] 2024 Feb 26; Vol. 14 (1), pp. 4676. Date of Electronic Publication: 2024 Feb 26.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/diagnostic imaging
Down Syndrome*/metabolism
Intellectual Disability*/metabolism
Adult ; Humans ; Pilot Projects ; Positron-Emission Tomography/methods ; Synapses ; Brain/metabolism
Czasopismo naukowe
Tytuł:
Sleep Problems Before and During the COVID-19 Pandemic in Children with Autism Spectrum Disorder, Down Syndrome, and Typical Development.
Autorzy:
Gios TS; Instructor in Department of Mental Health, Santa Casa de Sao Paulo School of Medical Sciences, Rua Dona Veridiana, 55 3 andar, CEP 01238-010, São Paulo, SP, Brazil. thaisa_.
Mecca TP; Instructor in Department of Mental Health, Santa Casa de Sao Paulo School of Medical Sciences, Rua Dona Veridiana, 55 3 andar, CEP 01238-010, São Paulo, SP, Brazil.
Kataoka LE; Santa Casa de Sao Paulo School of Medical Sciences, São Paulo, SP, Brazil.
Rezende TCB; Speech-Language Pathologist - Santa Casa de Sao Paulo School of Medical Sciences, São Paulo, SP, Brazil.
Lowenthal R; Department of Mental Health, Santa Casa de Sao Paulo School of Medical Sciences, São Paulo, SP, Brazil.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Feb; Vol. 54 (2), pp. 491-500. Date of Electronic Publication: 2022 Nov 02.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/epidemiology
COVID-19*
Down Syndrome*/epidemiology
Sleep Wake Disorders*/epidemiology
Child ; Humans ; Adolescent ; Child, Preschool ; Pandemics ; Sleep ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł:
Imbalanced dietary patterns, anthropometric, and body composition profiles amongst adults with Down syndrome.
Autorzy:
Herrera-Quintana L; Department of Physiology, School of Pharmacy, Institute of Nutrition and Food Technology 'José Mataix', University of Granada, Granada, Spain.
Vázquez-Lorente H; Department of Physiology, School of Pharmacy, Institute of Nutrition and Food Technology 'José Mataix', University of Granada, Granada, Spain.
Carranco Romo MJ; Department of Physiology, School of Pharmacy, Institute of Nutrition and Food Technology 'José Mataix', University of Granada, Granada, Spain.
Flores Buitrón EP; Department of Physiology, School of Pharmacy, Institute of Nutrition and Food Technology 'José Mataix', University of Granada, Granada, Spain.
Molina-López J; Faculty of Education, Psychology and Sports Sciences, University of Huelva, Huelva, Spain.
Moya MT; GranaDown, Down Syndrome Association of Granada, Granada, Spain.
Planells E; Department of Physiology, School of Pharmacy, Institute of Nutrition and Food Technology 'José Mataix', University of Granada, Granada, Spain.
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Źródło:
Nutritional neuroscience [Nutr Neurosci] 2024 Feb; Vol. 27 (2), pp. 96-105. Date of Electronic Publication: 2022 Dec 29.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*
Diet, Mediterranean*
Adult ; Male ; Humans ; Female ; Dietary Patterns ; Quality of Life ; Cross-Sectional Studies ; Anthropometry ; Body Composition ; Body Mass Index
Czasopismo naukowe
Tytuł:
The hidden scabies: a rare case of atypical Norwegian scabies, case report and literature review.
Autorzy:
Mauro A; Pediatric Rheumatology unit, Department of Childhood and Developmental Medicine, Fatebenefratelli-Sacco Hospital, Milan, Italy. .
Colonna C; Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Taranto S; Pediatric Department, 'Vittore Buzzi' Children's hospital, Milan, Italy.
Garella V; Pediatric Department, 'Vittore Buzzi' Children's hospital, Milan, Italy.
Castelletti F; Pediatric Department, 'Vittore Buzzi' Children's hospital, Milan, Italy.
Giordano L; Pediatric Unit, Department of Childhood and Developmental Medicine, Fatebenefratelli-Sacco Hospital, Milan, Italy.
Monzani NA; Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Bernardo L; Pediatric Unit, Department of Childhood and Developmental Medicine, Fatebenefratelli-Sacco Hospital, Milan, Italy.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2024 Jan 17; Vol. 50 (1), pp. 7. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Down Syndrome*/complications
Scabies*/diagnosis
Scabies*/drug therapy
Scabies*/complications
Adolescent ; Female ; Humans ; Norway
Czasopismo naukowe
Tytuł:
Correlation between telomere shortening in maternal peripheral blood and fetal aneuploidy.
Autorzy:
Zhao XX; Department of Gynecology and Obstetrics, Affiliate Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia, 010050, China. .
Bai LL; First Clinical Medical College, Inner Mongolia Medical University, Hohhot, China.
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Jan 02; Vol. 24 (1), pp. 2. Date of Electronic Publication: 2024 Jan 02.
Typ publikacji:
Journal Article
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Female ; Humans ; Telomere Shortening ; Aneuploidy ; Fetus ; Fetal Blood
Czasopismo naukowe
Tytuł:
Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent-reported measures.
Autorzy:
Alrayes N; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Issa NM; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Alghubayshi OY; Saudi Arabia Ministry of Health, Khobar Hospital and Health Centers Management, Al-Khobar, Saudi Arabia.
Al-Amaa JY; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Alsabban AH; Department of Biological Science, Faculty of Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Al Shaer DS; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Alyoubi RA; Pediatric Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
Nasser KK; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Alkhiary YM; Oral and Maxillofacial Prosthodontics Department, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2337. Date of Electronic Publication: 2023 Dec 13.
Typ publikacji:
Journal Article
MeSH Terms:
Quality of Life*/psychology
Down Syndrome*
Child ; Humans ; Surveys and Questionnaires ; Parents ; Saudi Arabia
Czasopismo naukowe
Tytuł:
Voxel-based dysconnectomic brain morphometry with computed tomography in Down syndrome.
Autorzy:
Sánchez-Moreno B; Adult Down Syndrome Unit, Department of Internal Medicine, Hospital Universitario de La Princesa, Madrid, Spain.
Zhang L; Alzheimer Disease Research Unit, CIEN Foundation, Queen Sofia Foundation Alzheimer Centre, Madrid, Spain.
Mateo G; Adult Down Syndrome Unit, Department of Internal Medicine, Hospital Universitario de La Princesa, Madrid, Spain.
Moldenhauer F; Adult Down Syndrome Unit, Department of Internal Medicine, Hospital Universitario de La Princesa, Madrid, Spain.
Brudfors M; Wellcome Centre for Human Neuroimaging, University College London, London, UK.
Ashburner J; Wellcome Centre for Human Neuroimaging, University College London, London, UK.
Nachev P; High-Dimensional Neurology Group, University College London Queen Square Institute of Neurology, London, UK.
de Asúa DR; Adult Down Syndrome Unit, Department of Internal Medicine, Hospital Universitario de La Princesa, Madrid, Spain.
Strange BA; Alzheimer Disease Research Unit, CIEN Foundation, Queen Sofia Foundation Alzheimer Centre, Madrid, Spain.; Laboratory for Clinical Neuroscience, CTB, Universidad Politécnica de Madrid, Madrid, Spain.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jan; Vol. 11 (1), pp. 143-155. Date of Electronic Publication: 2023 Dec 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Down Syndrome*/diagnostic imaging
Down Syndrome*/pathology
Alzheimer Disease*/diagnostic imaging
Alzheimer Disease*/pathology
Adult ; Humans ; Cross-Sectional Studies ; Brain/diagnostic imaging ; Brain/pathology ; Magnetic Resonance Imaging/methods ; Biomarkers
Czasopismo naukowe
Tytuł:
Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome.
Autorzy:
Del Hoyo Soriano L; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA, USA. .; Department of Psychiatry and Behavioral Sciences, University of California, Davis Health, Sacramento, CA, USA. .
Sterling A; Waisman Center, Department of Communication Sciences and Disorders, University of Wisconsin-Madison, Madison, WI, USA.
Edgin J; Department of Psychology, University of Arizona, Tucson, AZ, USA.
Hamilton DR; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.
Berry-Kravis E; Departments of Pediatrics, Neurological Sciences and Biochemistry, Rush University Medical Center, Chicago, USA.
Dimachkie Nunnally A; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA, USA.
Thurman AJ; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California, Davis Health, Sacramento, CA, USA.
Abbeduto L; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California, Davis Health, Sacramento, CA, USA.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Jan; Vol. 54 (1), pp. 301-311. Date of Electronic Publication: 2022 Oct 31.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/psychology
Autistic Disorder*/diagnosis
Autism Spectrum Disorder*/psychology
Male ; Female ; Humans ; Cognition ; Sex Characteristics
Czasopismo naukowe
Tytuł:
Effects of Cognitive Orientation to Daily Occupational Performance and Conductive Education Treatment Approaches on Fine Motor Skills, Activity and Participation Limitations in Children with Down Syndrome: A Randomised Controlled Trial.
Autorzy:
Özbeşer H; Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Cyprus International University, Via Mersin 10, 99258, Lefkoşa, Turkey. .
Tüzün EH; Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Eastern Mediterranean University, Via Mersin 10, 99628, Famagusta, Turkey.
Dericioğlu B; Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Cyprus International University, Via Mersin 10, 99258, Lefkoşa, Turkey.
Övgün ÇD; Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Eastern Mediterranean University, Via Mersin 10, 99628, Famagusta, Turkey.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Jan; Vol. 54 (1), pp. 168-181. Date of Electronic Publication: 2022 Nov 02.
Typ publikacji:
Randomized Controlled Trial; Journal Article
MeSH Terms:
Down Syndrome*/therapy
Autism Spectrum Disorder*
Occupational Therapy*
Child ; Humans ; Motor Skills ; Canada ; Orientation
Czasopismo naukowe

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