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


Starter badań:

Tytuł:
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.
Autorzy:
Santoro SL; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Baumer NT; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.; Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USA.
Cornacchia M; Geisinger Health System, Danville, Pennsylvania, USA.
Franklin C; Mater Research Institute-University of Queensland, The University of Queensland, South Brisbane, Australia.
Hart SJ; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
Haugen K; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Hojlo MA; Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USA.
Horick N; Biostatistics Center, Massachusetts General Hospital, Boston, Massachusetts, USA.
Kishnani PS; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
Krell K; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
McCormick A; Down Syndrome Center of Western Pennsylvania, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Milliken AL; Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USA.
Oreskovic NM; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Pawlowski KG; Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USA.
Sargado S; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Boston Children's Hospital Down Syndrome Program, Boston Children's Hospital, Boston, Massachusetts, USA.
Torres A; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Valentini D; Pediatric and Infectious Disease Unit, Bambino Gesù Children's Hospital, Rome, Italy.
Vellody K; Down Syndrome Center of Western Pennsylvania, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Skotko BG; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 3049-3062. Date of Electronic Publication: 2022 Aug 04.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/complications
Down Syndrome*/epidemiology
Down Syndrome*/therapy
Adolescent ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Outcome Assessment, Health Care ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł:
Increased rate of respiratory symptoms in children with Down syndrome: a 2-year web-based parent-reported prospective study.
Autorzy:
Eijsvoogel NB; Tranzo Tilburg School of Social and Behavioral Sciences, Tilburg University, PO Box 90153 (RP219), 5000LE, Tilburg, the Netherlands.; Department of Pediatrics, Maastricht University Medical Center, Maastricht, the Netherlands.
Verstegen RHJ; Division of Clinical Pharmacology and Toxicology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Rheumatology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.
van Well GTJ; Department of Pediatrics, Maastricht University Medical Center, Maastricht, the Netherlands.
van Hout RWNM; Centre for Language Studies, Radboud University, Nijmegen, the Netherlands.
de Vries E; Tranzo Tilburg School of Social and Behavioral Sciences, Tilburg University, PO Box 90153 (RP219), 5000LE, Tilburg, the Netherlands. .; Jeroen Bosch Academy Research, Jeroen Bosch Hospital, 's-Hertogenbosch, the Netherlands. .
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Źródło:
European journal of pediatrics [Eur J Pediatr] 2022 Dec; Vol. 181 (12), pp. 4079-4089. Date of Electronic Publication: 2022 Oct 03.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Down Syndrome*/complications
Down Syndrome*/epidemiology
Respiratory Tract Infections*/complications
Respiratory Tract Infections*/epidemiology
Child ; Humans ; Prospective Studies ; Parents ; Anti-Bacterial Agents/therapeutic use ; Internet
Czasopismo naukowe
Tytuł:
Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results.
Autorzy:
Kang H; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Wang L; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Li X; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Gao C; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Xie Y; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Hu Y; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2022 Nov 04; Vol. 22 (1), pp. 813. Date of Electronic Publication: 2022 Nov 04.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Chromosome Disorders*/diagnosis
Female ; Pregnancy ; Humans ; Karyotyping ; Microarray Analysis ; Prenatal Diagnosis/methods ; Aneuploidy ; DNA Copy Number Variations ; Chromosomes
Czasopismo naukowe
Tytuł:
Amyloid- β and tau deposition influences cognitive and functional decline in Down syndrome.
Autorzy:
Grigorova M; Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK. Electronic address: .
Mak E; Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Brown SSG; Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Beresford-Webb J; Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Hong YT; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Fryer TD; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Coles JP; Department of Medicine, University of Cambridge, Cambridge, UK.
Aigbirhio FI; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Tudorascu D; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA.
Cohen A; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA.
Christian BT; Waisman Brain Imaging Laboratory, University of Wisconsin-Madison, Madison, WI, USA.
Ances B; Department of Neurology, Washington University at St. Louis, St. Louis, WA, USA.
Handen BL; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA.
Laymon CM; Department of Radiology and Bioengineering, University of Pittsburgh, Pittsburgh, PA, USA.
Klunk WE; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA.
Clare ICH; Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Holland AJ; Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Zaman SH; Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK.
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Źródło:
Neurobiology of aging [Neurobiol Aging] 2022 Nov; Vol. 119, pp. 36-45. Date of Electronic Publication: 2022 Jul 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Amyloid beta-Peptides*/metabolism
Cognitive Dysfunction*/metabolism
Cognitive Dysfunction*/psychology
Down Syndrome*/diagnostic imaging
Down Syndrome*/metabolism
Down Syndrome*/psychology
tau Proteins*/metabolism
Brain/metabolism ; Cognition/physiology ; Cognitive Aging/physiology ; Humans ; Positron-Emission Tomography/methods
Czasopismo naukowe
Tytuł:
Down syndrome and the eye: Ocular characteristics and ocular assessment.
Autorzy:
Mathan JJ; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.
Simkin SK; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.
Gokul A; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.
McGhee CNJ; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand. Electronic address: .
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Źródło:
Survey of ophthalmology [Surv Ophthalmol] 2022 Nov-Dec; Vol. 67 (6), pp. 1631-1646. Date of Electronic Publication: 2022 Apr 01.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Down Syndrome*/complications
Down Syndrome*/diagnosis
Down Syndrome*/epidemiology
Eye Diseases*/diagnosis
Face ; Humans
Czasopismo naukowe
Tytuł:
A sensitive and inexpensive high-resolution melting-based testing algorithm for diagnosis of transient abnormal myelopoiesis and myeloid leukemia of Down syndrome.
Autorzy:
Camargo R; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
de Castro Moreira Dos Santos A Jr; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.; Laboratório Central de Saúde Pública do Distrito Federal, Brasília, Brazil.
Cândido Guido B; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
Lemos Mendanha Cavalcante L; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
Silva Dias AC; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
Mendonça de Pontes R; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
Magalhães Furtado F; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
Feitosa Salviano C; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
Tiziani V; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
Martins Córdoba JC; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
Quezado Magalhães IM; Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil.
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Źródło:
Pediatric blood & cancer [Pediatr Blood Cancer] 2022 Nov; Vol. 69 (11), pp. e29866. Date of Electronic Publication: 2022 Jul 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Down Syndrome*/complications
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Leukemia, Myeloid*/genetics
Leukemoid Reaction*/diagnosis
Leukemoid Reaction*/genetics
Algorithms ; Child ; GATA1 Transcription Factor/genetics ; Humans ; Infant, Newborn ; Mutation
SCR Disease Name:
Myeloproliferative Syndrome, Transient
Czasopismo naukowe
Tytuł:
Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history.
Autorzy:
Raffaele G; Institute of Health Professions, MGH, Boston, Massachusetts, USA.
Blout Zawatsky CL; Institute of Health Professions, MGH, Boston, Massachusetts, USA.; Genomes2People, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.; Ariadne Labs, Boston, Massachusetts, USA.
Cottrell C; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Santoro SL; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Massachusetts General for Children, Boston, Massachusetts, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3162-3171. Date of Electronic Publication: 2022 Aug 12.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/complications
Down Syndrome*/diagnosis
Down Syndrome*/epidemiology
Genetic Testing ; Humans ; Medical History Taking ; Mental Health ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Is primary total hip arthroplasty in patients with Down's syndrome associated with increased complications at 2 years follow-up?
Autorzy:
Hernandez NM; Department of Orthopaedic Surgery, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA, 02115, USA. .
Cunningham DJ; Department of Orthopaedic Surgery, Duke University, 200 Trent Drive, Durham, NC, 27710, USA.
Millikan PD; OrthoIndy, 8450 Northwest Blvd, Indianapolis, IN, 46278, USA.
Penrose CT; Department of Orthopaedic Surgery, Duke University, 200 Trent Drive, Durham, NC, 27710, USA.
Seyler TM; Department of Orthopaedic Surgery, Duke University, 200 Trent Drive, Durham, NC, 27710, USA.
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Źródło:
Archives of orthopaedic and trauma surgery [Arch Orthop Trauma Surg] 2022 Oct; Vol. 142 (10), pp. 2927-2934. Date of Electronic Publication: 2021 Sep 20.
Typ publikacji:
Journal Article
MeSH Terms:
Arthroplasty, Replacement, Hip*/adverse effects
Down Syndrome*/complications
Down Syndrome*/surgery
Hip Prosthesis*/adverse effects
Periprosthetic Fractures*/etiology
Periprosthetic Fractures*/surgery
Follow-Up Studies ; Humans ; Postoperative Complications/diagnosis ; Postoperative Complications/epidemiology ; Postoperative Complications/etiology ; Reoperation/adverse effects ; Retrospective Studies ; Risk Factors
Czasopismo naukowe
Tytuł:
Healthcare utilization and costs associated with acute lymphoblastic leukemia in children with and without Down syndrome.
Autorzy:
Athale U; McMaster Children's Hospital, Hamilton, Ontario, Canada.
Sutradhar R; Cancer Research Program, ICES, Toronto, Ontario, Canada.; Institute for Health Policy, Evaluation and Management, University of Toronto, Toronto, Ontario, Canada.; Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
Breakey VR; McMaster Children's Hospital, Hamilton, Ontario, Canada.
Li Q; Cancer Research Program, ICES, Toronto, Ontario, Canada.
Bassal M; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Gibson P; McMaster Children's Hospital, Hamilton, Ontario, Canada.
Patel S; London Health Sciences Centre, London, Ontario, Canada.
Wheaton L; Kingston General Hospital, Kingston, Ontario, Canada.
Pole JD; Cancer Research Program, ICES, Toronto, Ontario, Canada.; Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.; Center for Health Services Research, University of Queensland, Brisbane, Queensland, Australia.
Mittman N; Institute for Health Policy, Evaluation and Management, University of Toronto, Toronto, Ontario, Canada.; Sunnybrook Research Institute, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
Pechlivanoglou P; Institute for Health Policy, Evaluation and Management, University of Toronto, Toronto, Ontario, Canada.; Sickkids Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
Gupta S; Cancer Research Program, ICES, Toronto, Ontario, Canada.; Institute for Health Policy, Evaluation and Management, University of Toronto, Toronto, Ontario, Canada.; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
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Źródło:
Pediatric blood & cancer [Pediatr Blood Cancer] 2022 Oct; Vol. 69 (10), pp. e29829. Date of Electronic Publication: 2022 Jun 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Down Syndrome*/complications
Down Syndrome*/therapy
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/therapy
Child ; Health Care Costs ; Hospitalization ; Humans ; Ontario/epidemiology ; Patient Acceptance of Health Care ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Vitamin D3 supplementation may attenuate morphological and molecular abnormalities of the olfactory bulb in a mouse model of Down syndrome.
Autorzy:
Gomes FC; Genetics and Molecular Biology Research Unit (UPGEM), São José do Rio Preto Medical School (FAMERP), São José do Rio Preto, SP, Brazil; Faculdade de Medicina FACERES, São José do Rio Preto, SP, Brazil. Electronic address: .
Santos IBF; Institute of Health Sciences, Federal University of Pará (UFPA), Belém, PA, Brazil.
Stephani CM; Faculdade de Medicina FACERES, São José do Rio Preto, SP, Brazil.
Ferrari MFR; Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo (USP), São Paulo, SP, Brazil.
Galvis-Alonso OY; Laboratory of Experimental Physiology, São José do Rio Preto Medical School (FAMERP), São José do Rio Preto, SP, Brazil.
Goloni-Bertollo EM; Genetics and Molecular Biology Research Unit (UPGEM), São José do Rio Preto Medical School (FAMERP), São José do Rio Preto, SP, Brazil.
Melo-Neto JS; Institute of Health Sciences, Federal University of Pará (UFPA), Belém, PA, Brazil.
Pavarino ÉC; Genetics and Molecular Biology Research Unit (UPGEM), São José do Rio Preto Medical School (FAMERP), São José do Rio Preto, SP, Brazil. Electronic address: .
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Źródło:
Tissue & cell [Tissue Cell] 2022 Oct; Vol. 78, pp. 101898. Date of Electronic Publication: 2022 Aug 17.
Typ publikacji:
Journal Article
MeSH Terms:
Alzheimer Disease*/drug therapy
Alzheimer Disease*/genetics
Down Syndrome*/drug therapy
Down Syndrome*/genetics
Down Syndrome*/metabolism
Neuroprotective Agents*
ATP Binding Cassette Transporter, Subfamily B/metabolism ; Animals ; Caspase 3/metabolism ; Cholecalciferol/pharmacology ; Dietary Supplements ; Disease Models, Animal ; Female ; Methylenetetrahydrofolate Reductase (NADPH2)/metabolism ; Mice ; Mice, Transgenic ; Olfactory Bulb/metabolism
Czasopismo naukowe
Tytuł:
Thoughts of young adults with Down syndrome.
Autorzy:
Takataya K; University of Yamanashi, Japan. Electronic address: .
Kanzaki Y; University of Yamanashi, Japan.
Mizuno E; Juntendo University, Japan.
Sakai I; University of Yamanashi, Japan.
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Źródło:
Archives of psychiatric nursing [Arch Psychiatr Nurs] 2022 Dec; Vol. 41, pp. 195-200. Date of Electronic Publication: 2022 Jul 09.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*
Humans ; Young Adult ; Existentialism ; Parents
Czasopismo naukowe
Tytuł:
Number estimation in Down syndrome: Cognition or experience?
Autorzy:
Lanfranchi S; University of Padova, Padova, Italy. Electronic address: .
Sella F; Loughborough University, Loughborough, UK.
Onnivello S; University of Padova, Padova, Italy.
Lunardon M; Scuola Internazionale Superiore di Studi Avanzati (SISSA), Trieste, Italy.
Zorzi M; University of Padova, Padova, Italy; IRCCS San Camillo Hospital, Venice-Lido, Italy. Electronic address: .
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Źródło:
Research in developmental disabilities [Res Dev Disabil] 2022 Dec; Vol. 131, pp. 104363. Date of Electronic Publication: 2022 Oct 18.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*
Child ; Humans ; Cognition ; Mathematics ; Achievement ; Intelligence
Czasopismo naukowe
Tytuł:
Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil.
Autorzy:
Boschiero MN; Postgraduate Program in Health Science, Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, São Francisco University, Avenida São Francisco de Assis, 218. Jardim São José, Bragança Paulista, SP, 12916-900, Brazil.
Palamim CVC; Postgraduate Program in Health Science, Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, São Francisco University, Avenida São Francisco de Assis, 218. Jardim São José, Bragança Paulista, SP, 12916-900, Brazil.; Laboratory of Human and Medical Genetics, São Francisco University, Bragança Paulista, Brazil.
Ortega MM; Postgraduate Program in Health Science, Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, São Francisco University, Avenida São Francisco de Assis, 218. Jardim São José, Bragança Paulista, SP, 12916-900, Brazil.; Laboratory of Human and Medical Genetics, São Francisco University, Bragança Paulista, Brazil.
Marson FAL; Postgraduate Program in Health Science, Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, São Francisco University, Avenida São Francisco de Assis, 218. Jardim São José, Bragança Paulista, SP, 12916-900, Brazil. .; Laboratory of Human and Medical Genetics, São Francisco University, Bragança Paulista, Brazil. .
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Źródło:
Human genetics [Hum Genet] 2022 Dec; Vol. 141 (12), pp. 1887-1904. Date of Electronic Publication: 2022 Jun 28.
Typ publikacji:
Journal Article
MeSH Terms:
COVID-19*/epidemiology
Down Syndrome*/complications
Down Syndrome*/epidemiology
Humans ; Pandemics ; Brazil/epidemiology ; SARS-CoV-2
Czasopismo naukowe
Tytuł:
Expanding the spectrum of amyloid-β plaque pathology: the Down syndrome associated 'bird-nest plaque'.
Autorzy:
Ichimata S; Tanz Centre for Research in Neurodegenerative Disease, Krembil Discovery Tower, University of Toronto, 60 Leonard Ave Toronto On, Toronto, ON, M5T 0S8, Canada.; Department of Laboratory Medicine and Pathobiology and Department of Medicine, University of Toronto, Toronto, ON, Canada.; Department of Legal Medicine, Faculty of Medicine, University of Toyama, Toyama, Japan.
Martinez-Valbuena I; Tanz Centre for Research in Neurodegenerative Disease, Krembil Discovery Tower, University of Toronto, 60 Leonard Ave Toronto On, Toronto, ON, M5T 0S8, Canada.
Forrest SL; Tanz Centre for Research in Neurodegenerative Disease, Krembil Discovery Tower, University of Toronto, 60 Leonard Ave Toronto On, Toronto, ON, M5T 0S8, Canada.; Dementia Research Centre, Macquarie Medical School, Faculty of Health and Human Sciences, Macquarie University, Sydney, Australia.; Laboratory Medicine Program & Krembil Brain Institute, University Health Network, Toronto, ON, Canada.
Kovacs GG; Tanz Centre for Research in Neurodegenerative Disease, Krembil Discovery Tower, University of Toronto, 60 Leonard Ave Toronto On, Toronto, ON, M5T 0S8, Canada. .; Department of Laboratory Medicine and Pathobiology and Department of Medicine, University of Toronto, Toronto, ON, Canada. .; Laboratory Medicine Program & Krembil Brain Institute, University Health Network, Toronto, ON, Canada. .
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Źródło:
Acta neuropathologica [Acta Neuropathol] 2022 Dec; Vol. 144 (6), pp. 1171-1174. Date of Electronic Publication: 2022 Sep 16.
Typ publikacji:
Journal Article
MeSH Terms:
Alzheimer Disease*
Down Syndrome*
Animals ; Humans ; Mice ; Amyloid beta-Peptides ; Amyloid beta-Protein Precursor ; Mice, Transgenic ; Plaque, Amyloid
Czasopismo naukowe
Tytuł:
Physical activity, sedentary behaviour and screen time among youths with Down syndrome during the COVID-19 pandemic.
Autorzy:
Amatori S; Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino, Italy.
Sisti D; Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino, Italy.
Perroni F; Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino, Italy.
Brandi G; Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino, Italy.
Rocchi MBL; Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino, Italy.
Gobbi E; Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino, Italy.
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Źródło:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2022 Dec; Vol. 66 (12), pp. 903-912. Date of Electronic Publication: 2022 Apr 21.
Typ publikacji:
Journal Article
MeSH Terms:
COVID-19*
Down Syndrome*
Child ; Adolescent ; Male ; Female ; Humans ; Young Adult ; Adult ; Sedentary Behavior ; Pandemics ; Screen Time ; Cross-Sectional Studies ; Retrospective Studies ; Exercise
Czasopismo naukowe
Tytuł:
Mothers of children with down syndrome: A qualitative study of experiences of breastfeeding and breastfeeding support.
Autorzy:
Jönsson L; Department of Health Sciences, Faculty of Medicine, Lund University, Lund, Sweden.
Olsson Tyby C; Department of Health Sciences, Faculty of Medicine, Lund University, Lund, Sweden.
Hullfors S; Department of Health Sciences, Faculty of Medicine, Lund University, Lund, Sweden.
Lundqvist P; Department of Health Sciences, Faculty of Medicine, Lund University, Lund, Sweden.
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Źródło:
Scandinavian journal of caring sciences [Scand J Caring Sci] 2022 Dec; Vol. 36 (4), pp. 1156-1164. Date of Electronic Publication: 2022 May 18.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Feeding*
Down Syndrome*
Infant ; Female ; Pregnancy ; Child ; Humans ; Health Knowledge, Attitudes, Practice ; Mothers ; Postnatal Care ; Qualitative Research
Czasopismo naukowe
Tytuł:
DSFit: a feasibility pilot study of a group exercise programme for adolescents with Down syndrome.
Autorzy:
Hojlo MA; Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Milliken AL; Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Baumer NT; Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.
Davidson EJ; Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Complex Care Service, Division of General Pediatrics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
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Źródło:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2022 Dec; Vol. 66 (12), pp. 952-966. Date of Electronic Publication: 2022 Sep 27.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*
Child ; Humans ; Adolescent ; Feasibility Studies ; Pilot Projects ; Exercise Therapy/methods ; Exercise
Czasopismo naukowe
Tytuł:
Effects of 24-week basketball programme on body composition and functional fitness on adults with Down syndrome.
Autorzy:
Cai W; School of Physical Education, Anhui Normal University, Wuhu, China.; Exercise Rehabilitation Research Institute, Sangmyung University, Seoul, Korea.
Baek SS; Exercise Rehabilitation Research Institute, Sangmyung University, Seoul, Korea.
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Źródło:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2022 Dec; Vol. 66 (12), pp. 939-951. Date of Electronic Publication: 2022 May 31.
Typ publikacji:
Randomized Controlled Trial; Journal Article
MeSH Terms:
Basketball*
Down Syndrome*
Adult ; Humans ; Physical Fitness ; Exercise ; Body Composition ; Body Mass Index
Czasopismo naukowe
Tytuł:
Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients.
Autorzy:
Demirhan O; Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Balcali-Adana, Turkey. .
Tunç E; Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Balcali-Adana, Turkey.
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Źródło:
Chromosoma [Chromosoma] 2022 Dec; Vol. 131 (4), pp. 225-237. Date of Electronic Publication: 2022 Oct 11.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*/epidemiology
Chromosome Disorders*/genetics
Chromosome Disorders*/diagnosis
Down Syndrome*/epidemiology
Down Syndrome*/genetics
Humans ; Pregnancy ; Female ; Male ; Retrospective Studies ; Turkey ; Chromosome Aberrations ; Cytogenetic Analysis
Czasopismo naukowe

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