Background Patients with type 2 diabetes (T2DM) have an increased or normal BMD; however fragility fractures represent one of the most important complications of T2DM. Aims This study aimed to evaluate whether the use of the Radiofrequency Echographic multi spectrometry (REMS) technique may improve the identification of osteoporosis in T2DM patients. Methods In a cohort of 90 consecutive postmenopausal elderly (70.5 ± 7.6 years) women with T2DM and in 90 healthy controls we measured BMD at the lumbar spine (LS-BMD), at femoral neck (FN-BMD) and total hip (TH-BMD) using a dual-energy X-ray absorptiometry device; moreover, REMS scans were also carried out at the same axial sites. Results DXA measurements were all higher in T2DM than in non-T2DM women; instead, all REMS measurements were lower in T2DM than in non T2DM women. Moreover, the percentage of T2DM women classified as “osteoporotic”, on the basis of BMD by REMS was markedly higher with respect to those classified by DXA (47.0% vs 28.0%, respectively). On the contrary, the percentage of T2DM women classified as osteopenic or normal by DXA was higher with respect to that by REMS (48.8% and 23.2% vs 38.6% and 14.5%, respectively). T2DM women with fragility fractures presented lower values of both BMD-LS by DXA and BMD-LS by REMS with respect to those without fractures; however, the difference was significant only for BMD-LS by REMS (p < 0.05). Conclusions Our data suggest that REMS technology may represent a useful approach to enhance the diagnosis of osteoporosis in patients with T2DM.

Background More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the disease severity in affected individuals can be quite variable. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent and early complication of subjects with Rett syndrome. As a consequence of the low bone mass Rett girls are at an increased risk of fragility fractures. This study aimed to investigate if specific MECP2 mutations may affects the degree of involvement of the bone status in Rett subjects. Methods In 232 women with Rett syndrome (mean age 13.8 ± 8.3 yrs) we measured bone mineral density at whole body and at femur (BMD-FN and BMD-TH) by using a DXA machine (Hologic QDR 4500). QUS parameters were assessed at phalanxes by Bone Profiler-IGEA (amplitude dependent speed of sound: AD-SoS and bone transmission time: BTT). Moreover, ambulation capacity (independent or assisted), fracture history and presence of scoliosis were assessed. We divided the subjects with the most common point mutations in two group based on genotype-phenotype severity; in particular, there has been consensus in recognising that the mutations R106T, R168X, R255X, R270X are considered more severe. Results As aspect, BMD-WB, BMD-FN and BMD-TH were lower in subjects with Rett syndrome that present the most severe mutations with respect to subjects with Rett syndrome with less severe mutations, but the difference was statistically significant only for BMD-FN and BMD-TH (p < 0.05). Also both AD-SoS and BTT values were lower in subjects that present the most severe mutations with respect to less severe mutations but the difference was not statistically significant. Moreover, subjects with Rett syndrome with more severe mutations present a higher prevalence of scoliosis (p < 0.05) and of inability to walk (p < 0.05). Conclusion This study confirms that MECP2 mutation type is a strong predictor of disease severity in subjects with Rett syndrome. In particular, the subjects with more severe mutation present a greater deterioration of bone status, and a higher prevalence of scoliosis and inability to walk.

Background Osteoarthritis (OA) and vertebral fractures at the lumbar spine lead to an overestimation of bone mineral density (BMD). Recently, a new approach for osteoporosis diagnosis, defined as radiofrequency echographic multi-spectrometry (REMS), represents an innovative diagnostic tool that seems to be able to investigate bone quality and provide an estimation of fracture risk independent of BMD. The aim of this paper was to evaluate whether the use of REMS technology can favor the diagnosis of osteoporosis in subjects with an apparent increase in BMD. Methods In a cohort of 159 postmenopausal (66.2 ± 11.6 yrs) women with overestimated BMD by DXA at the lumbar spine, we performed an echographic scan with the REMS technique. Results The mean values of BMD at different skeletal sites obtained by the DXA and REMS techniques showed that the BMD T-scores by REMS were significantly lower than those obtained by the DXA technique both at the lumbar spine (p < 0.01) and at all femoral subregions (p < 0.05). In OA subjects, the percentage of women classified as “osteoporotic” on the basis of BMD by REMS was markedly higher with respect to those classified by DXA (35.1% vs 9.3%, respectively). Similarly, the REMS allows a greater number of fractured patients to be classified as osteoporotic than DXA (58.7% vs 23.3%, respectively). Conclusions REMS technology by the analysis of native raw unfiltered ultrasound signals appears to be able to overcome the most common artifacts, such as OA and vertebral fracture of the lumbar spine, which affect the value of BMD by DXA.

In recent years, vitamin D has become the protagonist in many studies. From cardiology to oncology the spotlight was on this vitamin. While in the past it was considered for its important role in phospho-calcium metabolism and skeletal disorders; today by studying it better, thousands of scenarios and facets have opened up on this vitamin which is actually a hormone in all respects. There are authoritative studies that demonstrate its activity in vitro and in vivo on: carcinogenesis, inflammation, autoimmunity and endocrinopathies. Its role has been studied in type 1 and type 2 diabetes mellitus, in Hashimoto or Graves’ thyroiditis and even in adrenal gland diseases. In fact, there are several studies that demonstrate the possible correlations between vitamin D and: Addison’s disease, Cushing disease, hyperaldosteronism or adrenocortical tumors. Moreover, this fascinating hormone and adrenal gland even seem to be deeply connected by common genetic pathways. This review aimed to analyze the works that have tried to study the possible influence of vitamin D on adrenal diseases. In this review we analyze the works that have tried to study the possible influence of vita-min D on adrenal disease.

Osteoporosis is a frequently occurring skeletal disease, and osteoporosis-related fractures represent a significant burden for healthcare systems. Dual-Energy X-ray Absorptiometry (DXA) is the most commonly used method for assessing bone mineral density (BMD). Today, particular attention is being directed towards new technologies, especially those that do not use radiation, for the early diagnosis of altered bone status. Radiofrequency Echographic Multi Spectrometry (REMS) is a non-ionizing technology that evaluates the bone status at axial skeletal sites by analyzing raw ultrasound signals. In this review, we evaluated the data on the REMS technique present in the literature. The literature data confirmed diagnostic concordance between BMD values obtained using DXA and REMS. Furthermore, REMS has adequate precision and repeatability characteristics, is able to predict the risk of fragility fractures, and may be able to overcome some of the limitations of DXA. In conclusion, REMS could become the method of choice for the assessment of bone status in children, in women of childbearing age or who are pregnant, and in several secondary osteoporosis conditions due to its good precision and replicability, its transportability, and the absence of ionizing radiation. Finally, REMS may allow qualitative and not just quantitative assessments of bone status.