دورية أكاديمية
أعرض في EDS

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.

التفاصيل البيبلوغرافية
العنوان: Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.
المؤلفون: Hoover-Fong JE; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA. jhoover2@jhmi.edu., Alade AY; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; AYA: Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Hashmi SS; McGovern Medical School, University of Texas Health, Houston, TX, USA., Hecht JT; McGovern Medical School, University of Texas Health, Houston, TX, USA.; School of Dentistry, University of Texas Health, Houston, TX, USA., Legare JM; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Little ME; Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA., Liu C; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., McGready J; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Modaff P; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Pauli RM; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Rodriguez-Buritica DF; McGovern Medical School, University of Texas Health, Houston, TX, USA., Schulze KJ; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Serna ME; McGovern Medical School, University of Texas Health, Houston, TX, USA., Smid CJ; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Children's Wisconsin & Medical College of Wisconsin, Milwaukee, WI, USA., Bober MB; Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA.
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1498-1505. Date of Electronic Publication: 2021 May 18.
نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
أسماء مطبوعة: Publication: 2022- : [New York] : Elsevier
Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-
مواضيع طبية MeSH: Achondroplasia*/diagnostic imaging , Achondroplasia*/epidemiology , Achondroplasia*/genetics , Osteochondrodysplasias*, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Polysomnography ; Prospective Studies ; Retrospective Studies ; United States/epidemiology ; Young Adult
مستخلص: Purpose: Achondroplasia is the most common short stature skeletal dysplasia (1:20,000-30,000), but the risk of adverse health outcomes from cardiovascular diseases, pain, poor function, excess weight, and sleep apnea is unclear. A multicenter retrospective natural history study was conducted to understand medical and surgical practices in achondroplasia.
Methods: Data from patients with achondroplasia evaluated by clinical geneticists at Johns Hopkins University, A.I. duPont Hospital for Children, McGovern Medical School UTHealth, and University of Wisconsin were populated into a REDCap database. All available retrospective medical records of anthropometry (length/height, weight, occipitofrontal circumference), surgery, polysomnography (PSG), and imaging (e.g., X-ray, magnetic resonance imaging) were included.
Results: Data from 1,374 patients (48.8% female; mean age 15.4 ± 13.9 years) constitute the primary achondroplasia cohort (PAC) with 496 subjects remaining clinically active and eligible for prospective studies. Within the PAC, 76.0% had a de novo FGFR3 pathologic variant and 1,094 (79.6%) had one or more achondroplasia-related surgeries. There are ≥37,000 anthropometry values, 1,631 PSGs and 10,727 imaging studies.
Conclusion: This is the largest multicenter achondroplasia natural history study, providing a vast array of medical information for use in caring for these patients. This well-phenotyped cohort is a reference population against which future medical and surgical interventions can be compared.
(© 2021. The Author(s).)
التعليقات: Comment in: Genet Med. 2023 Jul;25(7):100845. doi: 10.1016/j.gim.2023.100845. (PMID: 37061874)
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تواريخ الأحداث: Date Created: 20210519 Date Completed: 20210913 Latest Revision: 20240627
رمز التحديث: 20240627
مُعرف محوري في PubMed: PMC8354851
DOI: 10.1038/s41436-021-01165-2
PMID: 34006999
قاعدة البيانات: MEDLINE
الوصف
تدمد:1530-0366
DOI:10.1038/s41436-021-01165-2