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| http://dx.doi.org/10.1016/j.hrcr.2023.09.012 | DOI Listing |
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Adult hypophosphatasia presenting with recurrent acute joint pain.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in children, but can appear in adults with symptoms resembling arthritis. A 22-year-old male experienced repeated and severe sudden attacks of joint pain in the elbows and knees.
View Article and Find Full Text PDFPreterm birth and risk of bone fractures during childhood and early adulthood.
J Bone Miner Res
January 2025
Finnish Institute for Health and Welfare, Helsinki and Oulu, Finland.
People born preterm have reduced bone mineral density, subnormal peak bone mass, and an increased risk of osteoporosis. Whether this translates to increased risk of bone fractures is uncertain. We assessed fracture risk from childhood to early adulthood in relation to gestational age and sex by conducting a nationwide register-linkage cohort study comprising all 223 615 liveborn (1/1987- 9/1990) singletons (9161, 4.
View Article and Find Full Text PDFSelf-acupressure for patients with breast cancer experiencing aromatase inhibitor-associated musculoskeletal symptoms: Protocol for the AcuAIM randomized pilot trial.
PLoS One
January 2025
University of Michigan Medical School, Ann Arbor, MI, United States of America.
Background: Aromatase inhibitors (AI) reduce hormone receptor-positive breast cancer recurrence risk by about 50%. However, half of AI-treated postmenopausal women report new or worsened musculoskeletal symptoms (AIMSS), and 20% discontinue therapy prematurely. Acupuncture is effective for reducing symptoms, but many women are not able to access acupuncture therapy.
View Article and Find Full Text PDFPreclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease.
Commun Med (Lond)
January 2025
Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.
Background: Stargardt disease type 1 (STGD1) is a progressive retinal disorder caused by bi-allelic variants in the ABCA4 gene. A recurrent variant at the exon-intron junction of exon 6, c.768G>T, causes a 35-nt elongation of exon 6 that leads to premature termination of protein synthesis.
View Article and Find Full Text PDFClinical and immunological features of specific antibody deficiency in a pediatric hospital in Colombia.
Biomedica
December 2024
Servicio de Inmunología Clínica y Alergia Pediátrica, Fundación Hospital Pediátrico de La Misericordia - HOMI, Bogotá, D. C., Colom.
Introduction. Specific antibody deficiency is an innate error of humoral immunity characterized by normal levels of immunoglobulin isotypes, recurrent infections, and a reduced reaction to polysaccharide antigens in vaccines. Objective.
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