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A deep intronic variant associated with X-linked hypophosphatemia in a Finnish family.
JBMR Plus
February 2025
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal gene, but autosomal dominant and recessive forms also exist. We investigated a Finnish family in which the son (index, 29 yr) and mother (56 yr) had hypophosphatemia since childhood.
View Article and Find Full Text PDFDental manifestations of hypophosphatasia: translational and clinical advances.
JBMR Plus
February 2025
Division of Biosciences, College of Dentistry, The Ohio State University, Columbus, OH, 43210, United States.
Hypophosphatasia (HPP) is an inherited error in metabolism resulting from loss-of-function variants in the gene, which encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP plays a crucial role in biomineralization of bones and teeth, in part by reducing levels of inorganic pyrophosphate (PP), an inhibitor of biomineralization. HPP onset in childhood contributes to rickets, including growth plate defects and impaired growth.
View Article and Find Full Text PDFCumulative Exposure to Unconventional Natural Gas Development and the Risk of Childhood Cancer: A Registry-Based Case-Control Study.
Int J Environ Res Public Health
January 2025
Department of Epidemiology, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
The rapid growth of unconventional natural gas development (UNGD), also known as hydraulic fracturing, has raised concerns of potential exposures to hazardous chemicals. Few studies have examined the risk of childhood cancer from exposure to UNGD. A case-control study included 498 children diagnosed with leukemia, lymphoma, central nervous system neoplasms, and malignant bone tumors during the period 2010-2019 identified through the Pennsylvania Cancer Registry.
View Article and Find Full Text PDFFibrous dysplasia (FD) is a benign tumor condition in which normal bone is replaced by structurally deficient fibrous lamellar bone. It represents approximately 5-7% of benign bone tumors and occurs in two presentations: monostotic, which is the most common, and polyostotic. The proximal femur is one of the most common locations for benign tumors, including FD.
View Article and Find Full Text PDFFocal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.
Osteoporos Int
January 2025
Hospital del Mar Research Institute, Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), Barcelona, Spain.
A 29-year-old Spanish Caucasian man, without relevant family history, was attended in our unit due to an undiagnosed skeletal dysplasia associated with low bone mass and several fragility fractures throughout his childhood and adolescence. DXA exams throughout his life showed very low BMD values; currently, his spinal and femoral neck T-scores were - 4.3 and - 3.
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