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National Fragile X Foundation PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest National Fragile X Foundation articles that have been published worldwide.
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Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often m...
To determine frequency of fragile X associated premature ovarian insufficiency (FXPOI) among Turkish premutation carriers.
Using national insurance claims data of Taiwan, we found that patients with peripheral arterial disease (PAD) had increased risk of fracture during the follow-up period of 2000-2013. History of PAD was also associated with adverse outcomes in hospitalized fracture patients. Prevention strategies were needed in this susceptible population.
Chromosome fragile sites are a fascinating cytogenetic phenomenon now widely implicated in a slew of human diseases ranging from neurological disorders to cancer. Yet, the paths leading to these revelations were far from direct, and the number of fragile sites that have been molecularly cloned with known disease-associated genes remains modest. Moreover, as more fragile sites were being discovered, research interests in some of the earliest discovered fragile sites ebbed away, leaving a number of unsolved m...
Danish, national cross-sectional observational study on the prevalence of prior major osteoporotic fractures in adults presenting with hip fracture-limitations and scope for fracture liaison services in prevention of hip fracture.
Fracture liaison services prevent hip fractures by identifying other osteoporotic fractures that generally debut at a younger age. However, this study showed that a minority of hip fracture patients are already known to the health services through having had prior osteoporotic fractures. Identification of vertebral fractures in particular is lacking.
Almost a quarter of patients with PAO will sustain a subsequent fracture; patients need to be informed about potential risks before deciding for further pregnancies.
Glycogen is a complex branched glucose polymer functioning as a blood-sugar reservoir in animals. Liver glycogen β particles can bind together to form α particles, which have a slower enzymatic degradation to glucose. The linkage between β particles in α particles in diabetic liver breaks (is fragile) in dimethyl sulfoxide (DMSO), a H-bond disruptor, consistent with blood-sugar homeostasis loss in diabetes. We examined diurnal changes in the molecular structure of healthy and diabetic mouse-liver glycog...
In women, a large hip circumference (HC) related to lower hip fracture risk, independent of age and regardless if HC was measured long before or closer to the fracture. In older women, body mass index (BMI) explained the protection.
In this post hoc analysis of the VITdAL-ICU study, an RCT in critically ill adults with 25-hydroxyvitamin D levels ≤20 ng/ml, vitamin D3 did not have a significant effect on β-Crosslaps and osteocalcin.
This is the first study to directly compare the original and recently updated versions of the trabecular bone score (TBS) algorithm. We confirmed improved performance of the new algorithm, especially among men.
X-ray, CT and DXA enable diagnosis of vertebral deformities. For this study, level of agreement of vertebral deformity diagnosis was analysed. We showed that especially on subject level, these imaging techniques could be used for opportunistic screening of vertebral deformities in COPD patients.
Osteoporosis affects many aspects of daily life. The aim of this systematic review was to assess the effects of exercise interventions on functional outcomes in persons with osteoporosis, in comparison with controls.
This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height z-score, and some reshaping of vertebral bodies.
We evaluated the value of VFA in the identification of vertebral fractures using a retrospective study and a meta-analysis. Performance of VFA was adequate in the meta-analysis although this was not demonstrated in our centre. We recommend checking the performance of VFA tools before exclusively relying on this tool.
The goal of this study was to assess the effectiveness of risperidone monoantipsychotic therapy targeting irritability in patients with Fragile X syndrome (FXS) in a naturalistic outpatient clinical setting.