Clinical Cases in Mineral and Bone Metabolism最新文献

Objective: The purpose of this report is to investigate the role and efficiency of the intra-ligamentary injection of vitamin D and calcium in the treatment of chronic periodontitis associated with hypothyroidism.

Design: A 43-year-old female with suspected hypothyroidism who revealed severe chronic periodontitis with grade III mobility. Pre-operative periodontal and systemic control preceded the used intervention. After 3 months, intra-ligamentary injectable vitamin D with calcium was introduced.

Results: Clinical evaluation revealed great improvement of the injected sites. Marked reduction of mobility, pocket depth and bleeding were detected.

Conclusions: Injectabe vitamin D is an adjunctive treatment modality that needs to be discovered in another way. It may provide further solutions for the periodontal regeneration problem. Clinical studies with large sample sizes and long term follow up are needed.

Introduction: Osteoporosis is a systemic disease of the skeleton characterized by a reduction in bone mass and alterations in microarchitecture accompanied by increase in fracture risk, with a relevant decline in quality of life and important social, economic, and health implications, representing one of the most common causes of disability and a major financial item of health cost in many Countries. The best therapy for osteoporosis is prevention, consisting in measures to avoid or slow the onset of the disease. Treatment includes measures aimed at osteoporotic individuals, with or without previous fractures and a high risk of a first or additional fracture.

Method: We enrolled thirty post-menopausal osteoporotic women, allocated in the first group underwent a 6-month personalized drug therapy and focused mechanoacoustic vibration (2 sessions per week, each lasting 15 minutes); women allocated in the second group underwent only 6-month personalized drug therapy. Patients were evaluated performing dual-energy X-ray absorptiometry (DXA) and isokinetic machine evaluation, and administration of Tinetti scale and ECOS-16 questionnaire.

Result: Show improvement of bone mineral density (BMD) and T-score at the lumbar spine and femoral neck, handgrip strength and isokinetic strength of the knee estensors, balance and gait, and quality of life.

Conclusion: Hence, the combined treatment with focused mechano-acoustic vibration and pharmacological therapy has a beneficial effect on BMD and T-score as well as on the muscle strength and quality of life of osteoporotic subjects.

Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disease. Children present within the first 6 months of life and more commonly in the first few weeks. Common presentation is poor feeding, polyuria, dehydration, lethargy, failure to thrive, hypotonia, gastrointestinal dysmotility, osteopenia and symptoms of respiratory distress due to a poorly developed chest cage. We present a case of a 2-month old girl with severe hypercalcemia and hyperparathyroidism. She was found to have a novel homozygous mutation in the acceptor splicing site of intron 4 (c.1378 -2A>G) of the calcium sensing receptor gene (CASR). This mutation causes frame shift deletion of exon 5 and insensitivity of CASR to calcium. The patient was treated with intravenous fluids, fruosemide, calcitonin, intravenous pamidronate and oral cinacalcet. She did not respond to medical treatment. Parathyroid gland imaging including ultrasound, MRI and sestamibi nuclear scan were not helpful in localizing the glands. Her symptoms resolved following total parathyroidectomy. She is being treated with alfacalcidiol and calcium supplements to maintain normal serum calcium and phosphate. She achieved her normal developmental milestones.

Soft-tissue filler (STF) injections have been used worldwide for cosmetic reasons. In most cases, they are not approved by the United States Food and Drug Administration (FDA). Regulatory boards in Latin American countries do not allow the medical use of STF injections; however, these injections are still widely used. A case of calcitriol-mediated hypercalcemia with ectopic calcifications, chronic kidney disease, nephrolithiasis and calcinosis is presented. The reported case highlights the consequences of STF use, including calcitriol-mediated hypercalcemia secondary to granulomatous reactions years after an esthetic procedure.

The complete repair of periodontal structures remains an exciting challenge that prompts researchers to develop new treatments to restore the periodontium. Recent research has suggested strontium ion to be an attractive candidate to improve osteogenic activity. In this study, we have isolated a clonal finite cell line derived from human periodontal ligament (PDL) in order to assess whether and in which way different doses of SrCl₂ (from 0.5 to 500 μg/ml) can influence both the proliferation and the mineralization process, for future application in oral diseases. PDL cells were cloned by dilution plating technique and characterized by FACS. Cell proliferation analysis and mineralization were performed by [³H]-thymidine incorporation and spectrofluorometric assay. Results have evidenced that the higher SrCl₂ concentrations tested, from 25 to 500 μg/ml, have increased the proliferation activity after only 24 h of treatment. Interestingly, the same higher concentrations have decreased the mineralization, which was conversely increased by the lower ones, from 0.5 to 10 μg/ml. Our findings suggest the possible use of SrCl₂ in appropriate delivery systems that release, at different time points, the specific dose, depending on the biological response that we want to induce on periodontal ligament stem cells, providing a more efficient periodontal regeneration.

Introduction: The nonunion rate has been reported between 0.1% and 15%. There are also several predisposing factors for the onset of complications: general factors connected with the patient and specific factors related to the fracture site. The purpose of our study is to review the etiology of nonunion of the clavicle in its atrophic form and investigate the outcomes of the revision treatment in a single step.

Materials and methods: Retrospective study on 71 patients suffering from nonunions due to the following treatments: conservative in 13 patients; plate fixation in 12; closed reduction and fixation with K-wire in 24; open reduction and fixation with K-wire. All patients were operated on in beach chair position and classic approach to the clavicle by incising the previous surgical scar. The clinical and radiographic criteria for evaluating the outcomes were: the Short Form (12) Health Survey (SF-12), the Constant Shoulder Score (CSS) and the Disability Disabilities of the Arm, Shoulder and Score (DASH) and radiographic Union Score (RUS) for bone healing. The evaluation endpoint was set at 12 months.

Results: Blood and culture tests showed 22 infected nonunions and 49 atrophic or oligoatrophic. In only 10 cases, before surgery, the inflammatory markers were positive. The isolated microorganisms were resistant to common antibiotics. In 70 out of 71 cases, plates and screws on the upper side and fibula allogenic splints at the bottom, associated with cancellous bone grafts taken from the patients' iliac crests, were implanted. In one case, however, it was decided to implant the plate on the front edge of the clavicle and the fibula allogeneic splint on the posterior margin, also associated with a cancellous bone graft taken from the patient's iliac crest. The radiographic bone healing was observed in 107.8 (range 82-160) days for the aseptic nonunions, while in 118.4 (range 82-203) days for the septic ones. The non-healing case was a serious failure that led to asubtotal excision of the clavicle.

Conclusions: The importance of classification and study of nonunions are essential to achieve positive outcomes. The guiding principle of our work is that aseptic nonunions heal in the operating room, while infected nonunions can be challenged and defeated on the operating table. Restoring the correct length of the clavicle interconnection between the sternum and the shoulder cingulum is indispensable to avoid functional deficits of the upper limb. The fibula splint and the tricorticale bone graft have both mechanical and strong biological values to quickly heal the nonunion. The return to pre-injury quality of life has to be our main goal.

Background: Fractures of the proximal part of the humerus represent almost 4-5% of all fractures. The rate of non union is estimated to be 1.1 to 10%. Non union, displacement, and fixation failure can be hazardous complications for these injuries. The purpose of our study was to evaluate the outcomes of plate and bone strut allograft with bone chips grafting augmentation in the management of proximal humeral aseptic non union.

Methods: We treated 16 aseptic non union proximal humeral fractures by the medial humeral shaft bone strut allograft and lateral plate and screws with bone chips grafting. The patients' ages were between 55 and 70 years. The chosen criteria to evaluate the group during the clinical and radiological follow-up were the quality of life measured by The Short Form (12) Health Survey (SF-12), shoulder function and related quality of life measured by the Constant Shoulder Score (CSS) compared with healthy side, bone healing measured by X-rays, and postoperative complications. The follow-up was perfor med with clinical and radiographic controls at 1, 3, 6 and 12 months. Surgical time and international units of red blood cells transfused were also calculated. The evaluation endpoint was set at 12 months.

Results: The X-rays bone healing occurred in our group on average of 126.4 days after surgery. The surgical time and blood loss were consistent with standard surgical procedures. The quality of life and functional recovery were excellent after plate and bone strut allograft.

Conclusions: Surgical techniques that increase mechanical stability, while incorporating bone biology, are effective aids for treating problematic fractural patterns.

Hypophosphatasia (HPP) is a congenital, rare and heterogeneous bone disorder, characterized by a deficit of calcified tissue mineralization, leading to skeletal deformities and osteomalacia in adults, rickets in infants and children, and fragility fractures and premature loss of dentition in children and adults. The disease is caused by a reduced or absent expression and activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, derived from inactivating mutations of the alkaline phosphatase (ALPL) gene. Six different clinical variants have been reported, defined by the onset age and characterized by different degrees of severity. The adult form of HPP presents a wide range of clinical manifestations, many of which are non-specific, mild, and often overlapping with other metabolic bone diseases. Consequently, many cases of adult HPP are, commonly, undiagnosed or misdiagnosed, and, subsequently, wrongly or non-treated with severe consequences for patients and a very negative impact on their quality of life and life expectancy, as well as with costs due to the administration of wrong therapies and treatments of their side effects. The occurrence of a fragility atypical femur fracture in the adulthood can be suspected as a clinical indication of an undiagnosed adult mild form of HPP; and the presence of at least one of this kind of fracture can help in the diagnosis of adult HPP, together with conventional HPP biochemical signs.

We report the case of a 55-year-old woman who presented to the emergency department having woken from sleep with right sided thigh swelling. Pelvic radiographs revealed bilateral atypical subtrochanteric femoral fractures (ASFFs). In the two years leading up to this admission, the patient had experienced gradually increasing pain and weakness in her legs which had resulted in a decrease in her mobility from fully mobile to bed-bound. During this time a neurologist had organised a magnetic-resonance imaging (MRI) scan of the brain and spine which was normal. There was no history of bisphosphonate (BP) use. Historical and admission blood tests revealed a persistently low serum alkaline phosphatase (ALP), with all other results within normal limits. The patient was treated with intramedullary nailing of both femurs and histological analysis of bone reamings were characteristic of hypophosphatasia (HPP). The patient was independently mobilising with a walking frame on discharge. Subsequent genetic testing revealed bi-allelic pathogenic variants in the TNSALP gene: c.526G>A, p.(Ala176Thr) and c.1171C>T, p.(Arg391Cys). HPP is an inborn error in metabolism caused by mutation in the gene coding for tissue non-specific alkaline phosphatase (TNSALP), resulting in a decrease in serum ALP concentrations. The age at which it presents which can vary from childhood to middle age, with symptoms ranging from perinatal death to late-onset osteomalacia. In those patients who survive to adulthood, there is a predisposition to fractures, including ASFFs. Treatment with asfotase alfa (a bone-targeted, recombinant human TNSALP) has been approved for perinatal, infantile and paediatric-onset hypophosphatasia. This case emphasises the importance of viewing persistent low ALP as a 'red flag' in patients presenting with musculoskeletal symptoms. Timely diagnosis and treatment of HPP can reduce the risk of serious complications, such as those experienced by this patient.