Clinical Cases in Mineral and Bone Metabolism最新文献

Non-union of long bones is a significant consequence of fracture treatment. Bone regeneration is a complex physiological process of bone formation which can be seen during normal fracture healing. An improved understanding of the molecular and cellular events that occur during bone repair and remodelling has led to the development of biologic agents that can augment the biological microenvironment and enhance bone repair. Currently, there are different strategies to augment the impaired or "insufficient" bone-regeneration process, including the "gold standard" autologous bone graft, free fibula vascularised graft, allograft implantation, and use of growth factors, osteoconductive scaffolds, osteoprogenitor cells and distraction osteogenesis. A lack of standardized outcome measures for comparison of biologic agents in clinical fracture repair trials, frequent off-label use and a limited understanding of the biological activity of these agents at the bone repair site have limited their efficacy in clinical applications.

Introduction: Although intra-articular injections of hyaluronic acid (HA) are common non-operative measures used in clinical practice in the management of symptomatic osteoarthritis, there is a great controversy on their efficacy and safety compared to corticosteroids (CSs).

Efficacy: Conflicting results have been reported in clinical trials and meta-analysis due to methodological differences in study design, along with collection, analysis, and interpretation of data. Even if some studies reported small or no differences of HA compared with CSs (or inferred that HA is not more effective than saline as a placebo), in general CSs have shown to be superior in the short term (especially on pain control), while better results have been reported with HA at subsequent evaluations, but with only a moderate effect after 26 weeks.

Safety: Mild or moderate adverse events have generally been reported after HA injections, the most common being injection site pain. HA is generally considered safe compared to CSs or saline. Furthermore, HA has shown to be safe also after a previous course of injections.

Conclusions: Conflicting results have been reported on the efficacy and safety of HA. Guidelines are controversial and in most of the cases "uncertain" recommendations are provided due to inconclusive evidence in literature. However, HA does not seem to have significantly higher side effects when compared to saline or CSs injections, and provides better medium-term control of symptoms in patients with mild to moderate knee osteoarthritis.

Wolfram Syndrome (WS) is a rare and lethal disease characterized by optic atrophy, diabetes mellitus, diabetes insipidus, and hearing loss. To date, osteoporotic related fractures have not been reported in affected patients. Here, we describe the case of a man affected by WS complicated by several bone fragility fractures. A 50-year-old Caucasian man was hospitalized because of tibia and fibula fractures. His clinical features included diabetes mellitus, diabetes insipidus, optic atrophy and deafness that were consistent with an unrecognized WS diagnosis, which was confirmed by the identification of a specific mutation in gene WFS1 encoding wolframin. Bone mineral density by phalangeal quantitative ultrasound demonstrated severe osteoporosis, with high serum levels of surrogate markers of bone turn-over. Previously unidentified rib fractures were also detected. To the best of our knowledge, this is the first report of osteoporotic related fractures in a patient affected by WS. Although no effective treatments are currently available to delay the progression of the disease, this case report suggests to evaluate fracture risk in the diagnostic work-up of WS.

Purpose: Is it possible a correlation between some periprosthetic femoral fractures and atypical fractures?

Case: We present a case of a 77-year-old woman with atypical periprosthetic femoral fracture. The patient had a history of long-term bisphosphonate use. We performed an open reduction, a synthesis of the fracture and a histological exam. The patient stopped the bisphosphonate (BF) therapy. Three months later, before starting the teriparatide treatment, the patient had a re-fracture so we did a second osteosynthesis and began a teriparatide therapy. After six months, the radiography showed a bone healing at the fracture site.

Result: The histological examination confirmed the diagnosis of atypical femoral fracture.

Conclusion: At first, the fracture showed a delayed union which led to a new surgery, as often happens in BF-related atypical fractures. Appropriate treatment (BF suspension and teriparatide beginning) permitted fracture healing. The atypical characteristic of the fracture was confirmed by histological exam.Some periprosthetic femoral fractures in patients treated with BF, especially in long time therapies, should be suspected as atypical fractures and a specific medical treatment should be performed, as well as a correct surgical treatment.

Periprosthetic fractures are becoming increasingly frequent due to aging population and growing number of total joint replacements involving joints different from hip and knee, such as shoulder and elbow. The treatment of these fractures still represents one of the major challenges for the orthopedic surgeon. Despite all efforts to understand and treat these patients, high rate of failure and mortality are still reported. In this review, the epidemiology of periprosthetic fractures, risk factors and results of surgical treatment are disclosed. Moreover, we propose a treatment algorithm based on the findings of the New Unified Classification System.

Premature infants are a major risk group for bone metabolic disorders. The purpose of this study is to clarify certain aspects of bone metabolism in healthy preterm and full-term neonates. Forty neonates (20 preterm and 20 full-term) were the material of the study. For each neonate demographic data (gender, gestational week) and anthropometric data (body weight) were recorded. Blood samples were collected and biochemical markers of bone metabolism (serum ALP, Ca, P, Mg) were immediately estimated. According to the results there is a statistically significant difference in average ALP of preterm neonates compared to full term neonates. Slightly higher values of Ca, P, Mg occurred in premature neonates while there was a statistically significant difference in the weeks of gestation and body weights between the two groups. It is typical in premature neonates the decrease in levels of ALP by the weeks of gestation and the stable levels of Ca. Gestational week seems to positively affect P and Mg levels in preterm neonates. Conclusively from our study's results arises that the week of gestation and not so much the body weight influence the alterations of bone biochemical biomarkers in healthy premature newborns. It seems that very premature neonates have high levels of serum ALP in decompensation of lower levels of Mg and P from all the newborns in this study. Therefore in very premature neonates, it is recommended to estimate serum ALP, Mg and P for assessment of bone turnover.

Vitamin D supplementation represents an important topic in the field of metabolic bone disease. Calcidiol, the 25-hydroxy-vitamin D [25(OH)D], is the form of vitamin D most recently introduced in clinical practice. Advantages of the use of calcidiol derive from the pharmacokinetic properties and are related to the possibility of use in patients with liver disease, obese patients, patients with intestinal malabsorption, secondary hyperparathyroidism associated with chronic kidney disease as well as to avoid any possible toxic effect when high doses are used. The ADDI-D study demonstrated the efficacy and safety of calcidiol at the daily dose of 20 or 40 μg and 125 μg/week. In particular, the daily dose of 40 μg can be suggested as an alternative in severely deficient patients, as it has demonstrated to ensure higher vitamin D levels, compared to the 20 μg/day and the weekly 125 μg dose. The last can be an option when issues with compliance to the supplementation are present.

Despite various pharmacological treatments, the problem of osteoporosis is not yet solved nor decreased. Drug's adverse event and fractures after long termed pharmacotherapy indicate a need for new treatment modalities. Nuclear magnetic resonance therapy could be a supplement to exercise and an alternative or supplement to pharmacotherapy. Number of clinical studies showed increase of BMD after nuclear magnetic resonance therapy and here presented case reports of eleven well-documented cases in which patients experienced severe trauma, having a huge hematoma around the hip but did not suffer any fracture, encourage this expectation. This case report study additionally presents case reports based on the follow-up of the incidence of fractures in a group of 450 patients (males n = 55, females n = 395) with a mean age of 68.4 years. All patients had been treated with MBST - therapeutic nuclear magnetic resonance, standard cycles of 10 days subsequently and followed during a five-year period. The data indicates that NMRT might reduce a risk of fractures in osteoporotic patients.

Introduction: Solitary infantile myofibromatosis (IM) of bone is a rare benign osseous tumor of childhood with low rate of recurrence. Well documented within the multicenter form, its solitary intraosseous location is less well described.

Case report: We present a rare case of intraosseous myofibromatosis arising the iliac bone of a 11-year-old girl, who was operated at 2 months of life for a retroauricular subcutaneous MF with unbalanced translocation t(9;16). She presented with a limping associated to a stiffness of the hip without pain. Imaging disclosed a 4×4×1cm intraosseous, lytic and heterogeneous mass with a soft tissue component on the medial cortical of the left iliac bone. Open biopsy was performed. Histology revealed proliferation of fusiform cells with eosinophil cytoplasm embedded in a myxoid and fibrous stroma without mitotic figures. On immunohistochemistry, cells were positive for actin, PS100, KL1, focally positive for EMA, CD34, P63, rarely CD31, which indicated diagnosis of new localization of IM. Cytogenetic analysis revealed absence of translocation t(9;16), which was found in the first tumor. Subsequent total resection was performed. The patient recovered normal function without recurrence of tumor at 3 years follow-up.

Conclusion: To our knowledge, this is the first case of solitary IM of the iliac bone, occurring 12 years after the first localization. Total resection resulted in excellent outcome. However recurrence can happen even long time after the first resection and new localization is possible, as in our case. This suggests close follow-up and clear information about the risk of recurrence.