Sepúlveda, S. et al. Low spinal and pelvic bone mineral density among individuals with Down syndrome. Am. J. Ment. Retard. 100, 109-114
ABSTRACT The bone mineral density of 15 adults with Down syndrome was compared to 25 control subjects without Down syndrome. Bone mineral density was measured by dual x-ray absorptiometry with a Lunar DPX scanner. Arm, leg, pelvic, and spine bone mineral density was tested. Analysis of covariance was conducted for each variable; Down syndrome was the independent variable, and the covariates were height, lean body mass, fat mass, age, and gender. No significant group differences were found for arm or leg bone mineral density. Individuals with Down syndrome had significantly lower pelvic and spinal bone mineral density. Before adjustment for covariates, percentage difference between group means for spine was 14.5% and for pelvis, 11.6%. Adjusted percentage was 11.1% and 13.9%, respectively. Suggestions for further research were made.
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- "Several investigators, including ourselves have reported that adults (and children) with DS have lower bone mass, expressed as BMD, especially in the lumbar spine, compared with their peers without mental retardation or with mental retardation but without DS , , , , . Known secondary causes for low BMD include dietary insufficiency (vitamin D and calcium intake), endocrine (hypothyroidism, hyperparathyroidism, hypogonadism), and autoimmune disorders (celiac disease) which lead to inadequate nutrition. "
ABSTRACT: Trisomy 21 affects virtually every organ system and results in the complex clinical presentation of Down syndrome (DS). Patterns of differences are now being recognized as patients' age and these patterns bring about new opportunities for disease prevention and treatment. Low bone mineral density (BMD) has been reported in many studies of males and females with DS yet the specific effects of trisomy 21 on the skeleton remain poorly defined. Therefore we determined the bone phenotype and measured bone turnover markers in the murine DS model Ts65Dn. Male Ts65Dn DS mice are infertile and display a profound low bone mass phenotype that deteriorates with age. The low bone mass was correlated with significantly decreased osteoblast and osteoclast development, decreased bone biochemical markers, a diminished bone formation rate and reduced mechanical strength. The low bone mass observed in 3 month old Ts65Dn mice was significantly increased after 4 weeks of intermittent PTH treatment. These studies provide novel insight into the cause of the profound bone fragility in DS and identify PTH as a potential anabolic agent in the adult low bone mass DS population.PLoS ONE 08/2012; 7(8):e42967. DOI:10.1371/journal.pone.0042967 · 3.23 Impact Factor
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- "Unlike most femoral neck fractures caused by minor trauma, those resulting from seizures may be significantly more comminuted. This is likely the effect of persistent muscle contracture during the seizure, but also due to increased rates of osteopenia in epileptic patients and decreased bone mineral density in individuals with Down syndrome.8–10 There is also evidence to suggest that certain antiepileptic medications, particularly phenytoin, are associated with decreased bone mineral density.11,12 "
ABSTRACT: Simultaneous bilateral hip fractures are exceedingly rare and usually occur following a seizure. To our knowledge, only 22 cases of such injuries have been reported in the literature during the past forty years and the majority of fractures are treated with open reduction and internal fixation. We present a case of a 66-year old man with Down syndrome and severe dementia who was diagnosed with bilateral displaced femoral neck fractures following an epileptic seizure. He was treated with single staged bilateral uncemented monopolar hemi-arthroplasties through lateral Hardinge approaches. The treatment choice was governed by fracture displacement, the lack of pre-existing osteoarthritis, length of time to diagnosis, the patient's age, ambulatory status and mental impairment, with the intention to minimize post-operative complications such as avascular necrosis, non-union and hip dislocation.Orthopedic Reviews 03/2010; 2(1):e10. DOI:10.4081/or.2010.e10
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ABSTRACT: Together, osteoporosis and osteopetrosis comprise a substantial proportion of the bone diseases that severely affect humans. In order to understand and effectively treat these disorders, an understanding of the mechanisms controlling bone remodelling is essential. While numerous animal models of bone disease have been generated, the lack of correlation between these animal models and human disease has limited their utility in terms of defining therapeutic strategies. The generation and analysis of cathepsin K knockout mice has resulted in a model for pycnodysostosis, a rare human osteopetrotic disease, and is now providing considerable insights into both osteoclast function and potential therapeutic strategies for the treatment of bone disease. This review highlights the importance of genes such as cathepsin K in understanding bone remodelling and illustrates a new trend towards understanding bone disease as a complete entity rather than as a series of unrelated disorders.Human Molecular Genetics 02/1999; 8(10):1839-46. · 6.39 Impact Factor