Low energy availability, menstrual dysfunction, and low bone mineral density in individuals with a disability: implications for the para athlete population

CA Blauwet, EM Brook, AS Tenforde, E Broad, CH Hu… - Sports Medicine, 2017 - Springer
Low energy availability, functional hypothalamic amenorrhea, and low bone mineral density
are three interrelated conditions described in athletic women. Although described as the …

Current knowledge of medical complications in adults with achondroplasia: a scoping review

SO Fredwall, G Maanum, H Johansen… - Clinical …, 2020 - Wiley Online Library
This article provides an overview of the current knowledge on medical complications, health
characteristics, and psychosocial issues in adults with achondroplasia. We have used a …

Automatic computation of mandibular indices in dental panoramic radiographs for early osteoporosis detection

I Aliaga, V Vera, M Vera, E García, M Pedrera… - Artificial intelligence in …, 2020 - Elsevier
Aim A new automatic method for detecting specific points and lines (straight and curves) in
dental panoramic radiographies (orthopantomographies) is proposed, where the human …

[HTML][HTML] Comprehensive literature review on the prevalence of comorbid conditions in patients with achondroplasia

M Stender, JM Pimenta, M Cheung, M Irving… - Bone, 2022 - Elsevier
Background Achondroplasia (ACH) is a rare, genetic condition and is the most common
skeletal dysplasia resulting in disproportionate short stature and numerous multi-systemic …

Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia

YC Lee, IW Song, YJ Pai, SD Chen, YT Chen - Scientific reports, 2017 - nature.com
Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of
function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no …

[HTML][HTML] Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice

L Loisay, D Komla-Ebri, A Morice, Y Heuzé, C Viaut… - JCI insight, 2023 - ncbi.nlm.nih.gov
Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast
growth factor receptor 3 (FGFR3), with the majority of cases resulting from a heterozygous p …

[HTML][HTML] How pain affect real life of children and adults with achondroplasia: A systematic review

R Onesimo, E Sforza, MF Bedeschi, C Leoni… - European Journal of …, 2023 - Elsevier
The clinical features of achondroplasia can cause acute self-limited pain that can evolve into
chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and …

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

V Fano, CA Kim, P Rosselli, RE Dib, R Shediac… - Orphanet Journal of …, 2022 - Springer
Background Achondroplasia (ACH), the most common form of disproportionate short stature,
is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent …

Assessment of osteoporotic alterations in type 2 diabetes: a retrospective study

L Munhoz, ARG Cortes, ES Arita - Dentomaxillofacial Radiology, 2017 - academic.oup.com
Objectives: To analyze the influence of Type 2 diabetes on bone mineral density (BMD) and
panoramic radiomorphometry in postmenopausal females, comparing with results from non …

[HTML][HTML] A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia

N Billich, K O'Brien, SO Fredwall, M Lee… - Genetics in …, 2023 - Elsevier
Purpose Skeletal dysplasia are heterogeneous conditions affecting the skeleton. Common
nutrition issues include feeding difficulties, obesity, and metabolic complications. This …