Clinical Cases in Mineral and Bone Metabolism最新文献

Osteoporosis is a major public health problem affects many millions of people around the world. It is a metabolic bone disease characterized by loss of bone mass and strength, resulting in increased risk of fractures. Several lifestyle factors are considered to be important determinants of it and nutrition can potentially have a positive impact on bone health, in the development and maintenance of bone mass and in the prevention of osteoporosis. There are potentially numerous nutrients and dietary components that can influence bone health, and these range from the macronutrients to micronutrients. In the last decade, epidemiological studies and clinical trials showed micronutrients can potentially have a positive impact on bone health, preventing bone loss and fractures, decreasing bone resorption and increasing bone formation. Consequently, optimizing micronutrients intake might represent an effective and low-cost preventive measure against osteoporosis.

Background: Osteoporosis, a multifactorial disease with reduced bone mineral density which increases the probability of bone fractures, is caused by calcium deficiency, and its incidence increases with age. It has been determined that mutations in functional regions of vitamin D receptor gene will affect the metabolism of minerals especially calcium and, therefore, bone density. The present study evaluates the relation between vitamin D receptor polymorphisms, TaqI (rs731236) and ApaI (rs7975232), and osteoporosis in menopausal Azari women in Zanjan province.

Materials and methods: This case-control study has been conducted on 50 menopausal women suffering from osteoporosis and 50 menopausal women who did not suffer from osteoporosis in Zanjan province. The diagnosis of osteoporosis was confirmed using DEXA instrument. Peripheral blood was collected from the subjects and controls to extract DNA and assess the ApaI and TaqI polymorphisms using PCR-RFLP method. The results were interpreted using independent T-test, chi-square, and Pearson correlation coefficient with a p-value less than 0.05.

Results: There was not a significant difference between the frequency of ApaI (AA/Aa/aa) and TaqI (TT/Tt/tt) genotypes in cases (mean age 68.72) and controls (mean age 64.7) (p=0.37 and p=0.64, respectively). In addition, ApaI/TaqI allele haplotype in osteoporotic population showed non-significant relation (p value=0.563) compared with the control group.

Discussion and conclusion: The relationship between the genotypes and osteoporosis, cancers, and mineral metabolism disorders has been studied for a long time. Although there has been a significant relation between the aforementioned genotypes and osteoporosis or reduced mineral density-related bone fractures in some studied, some other studies have opposing results. Therefore, it is only possible to reach an acceptable conclusion by studying the haplotype of the polymorphisms in subjects.

Fahr's syndrome, also known as "Bilateral Striopallidodentate Calcinosis" (BSPDC) primitive, is a rare neurological disease characterized by the presence of idiopathic, bilateral, symmetrical and abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, dentate nuclei of the cerebellum, nuclei of thalamus and semi-oval center. We describe a case of a 76-year-old male patient underwent reduction and fixation of a subtrochanteric fracture with intramedullary nail. During post-operative rehabilitation therapists's patient management was difficult due to obvious extrapyramidal symptoms characterized by dysarthria, rigidity, bradykinesia, postural instability. A CT scan, performed for the onset of stiffness and confusion before the operation, showed: IV ventricle eumorphic and in axis; expansion in atrophic sense of supratentorial ventricular system; bilateral, diffuse and coarse calcifications of the basal ganglia in the cerebellar and occipital cortex, elements compatible with Fahr's syndrome. The patient presented repeated postural instability episodes in the upright position, with loss balance tendency and recurrent falls. Fahr's syndrome patient is a "weak" patient, which requires a multi-disciplinary approach in order to prevent the mobility reduction, to improve the condition of postural instability, thus reducing the risk of fractures using preventive measures in domestic environment.

Nephrocalcinosis is characterized by calcification of kidney parenchyma and can be caused by an increased amount of calcium, phosphate or oxalate in urinary excretion. We report a 35-year-old female with nephrocalcinosis. She had fitful steatorrhea since last year. Physical examination was normal. Analytic exams found normal renal function and ionogram. Primary hyperparathyroidism, renal tubular acidosis and sarcoidosis were excluded. Urinalysis showed mild hematuria, without proteinuria and 24-hour urine collection exhibited hyperoxaluria. Patient was submitted to an endoscopy and duodenal biopsy whose histology sustained the diagnosis of celiac disease. Fluid intake increase and gluten and oxalate free diet were initiated.

Case 1. A 35-year-old woman in the 8^th month of her first pregnancy suffered acute lumbar pain that persisted for 4 months. In the 5^th month postpartum an acute increase in the low back pain led to a MRI which showed recent deformity in L1 and deformities of undetermined time of evolution in L2, L4, and L5. Laboratory evaluation did not reveal metabolic derangements. She had low bone mineral density (BMD, DXA) and severe deterioration of the microarchitecture of distal appendicular bone (HR-pQCT). Kyphoplasty of all 4 vertebrae was performed in 2 stages, and treatment with subcutaneous denosumab, 60 mg every 6 months, was begun. There was rapid and almost complete improvement in pain. An increase in trabecular bone was documented with HR-pQCT. Case 2. A 33-year-old mother who was breastfeeding her first-born child experimented acute dorsal pain. RMI revealed partial compression fractures in vertebrae D5-7. Her axial BMD was low. There was no family history of osteoporosis, and causes of secondary osteoporosis were ruled out. Her pain slowly subsided with conservative measures, oral analgesics, and nasal calcitonin. Then, treatment with oral strontium ranelate was prescribed; after 3 months serum alkaline phosphatase and osteocalcin had not increased, and after one year lumbar bone mineral density (BMD) was unchanged. Treatment was switched to subcutaneous denosumab. After one year, lumbar BMD had increased 14%, and the pain had almost completely subsided.

Bisphosphonates have been commonly used in the treatment of osteoporosis, demonstrating its efficacy in fracture risk reduction. However, even if are generally safe and well tolerated, concerns have emerged about atypical fractures related to its prolonged use. Although atypical femoral fracture are more common, case reports demonstrated that even other skeletal areas can be involved by unusual pattern of fracture. We report a atypical acetabular periprosthetic fracture in a 83-year-old female patient after prolonged alendronate treatment for osteoporosis and isolated acetabular revision surgery. The patient underwent to clinical, bioumoral and radiological evaluation and all the history cases were fully reported. We believe this periprosthetic fracture, according to the available data, may have similar underlying pathology to atypical femoral fractures. Awareness of symptoms, in addition to a regular radiographic survey may facilitate early diagnosis and possible prevention of spontaneous periprosthetic fractures, in patients receiving bisphosphonate therapy beyond 5 years. The treatment of this atypical periprosthetic fracture should include both surgical than pharmacological therapy to obtained bone healing.

Background: Vertebral compression fractures (VCFs) treated non-operatively can diminish function and quality of life, and lead to chronic health effects. The short-term safety and effectiveness of vertebroplasty for symptomatic VCFs are well-documented, but long-term follow-up is needed.

Purpose: The aim of this paper was to analyse a multicenter international experience of 200 compression fractures treated with percutaneous vertebroplasty (VP) and compare the results of this procedure with the result of 200 patients treated conservatively. To estimate cost-effectiveness of VP compared to conservative care in terms of: pain reduction, quality of life, complications, secondary fractures and mortality.

Materials and methods: 400 patients have been enrolled in a prospective randomized controlled study with painful VCFs with bone edema on MR imaging, local back pain for 6 weeks or less, osteoporosis and aged 55 years or older; after obtaining informed consent patients are included and randomized for VP or conservative care. Before treatment and at follow-up with regular intervals during 1-year period were administered to patients standard questionnaires addressing: clinical symptoms, pain medication, Visual Analogue Scale (VAS) score for pain, Oswestry Disability Index (ODI) score to evaluate functional activity.

Results: 200 patients treated with PV compared with 200 patients treated conservatively had significantly better VAS and used less analgesics 1 day after treatment. Twenty-four hours after VP, there was a reduction in pain scores and an improvement in physical functions, whereas remain unchanged in the patients treated conservatively.

Conclusions: Pain relief and improvement of mobility and function after PV is immediate and significantly better in the short term compared with non-surgical care treatment.

Background: We report on the clinical and biochemical outcomes in a 20-year-old male suffering from active craniofacial monostotic fibrous dysplasia (MFD) of the left mandible treated with the RANK-L inhibitor, denosumab, following unsatisfactory responses to prior long-term bisphosphonates therapy.

Results: The patient had been treated over 9 years with pamidronate (cumulative dose of 810 mg) with incomplete control of pain. Following initiation of denosumab 60 mg subcutaneously, bone pain and bone turnover markers (osteocalcin, total and bone alkaline phosphatase and carboxy-terminal cross-linking telopeptide of type I collagen) were monitored over a 27 months period. Few hours after the first administration, the patient demonstrated a complete pain disappearance and after 4 weeks bone turnover markers fell within the normal range. Three months after denosumab initiation the patient reported a pain reactivation that required a second administration, which again led to the pain disappearance. Subsequently, denosumab was administered according to the pain reappearance and the injection was always followed by complete pain relief. However, a gradual shortening of the pain-free interval between administrations was observed, ranging from 90 to 75 days. All bone turnover markers stayed in the lower half of the normal range, even at the moment of pain reappearance, suggesting that the effect of denosumab on pain depends on mechanisms other than bone resorption suppression. No side effects were reported by the patient during the follow-up.

Conclusion: Denosumab appears to be effective in reducing bone turnover and bone pain in adult patients with active MFD.

Pregnancy-associated osteoporosis is a rare condition. The pathogenesis is probably multifactorial but has not yet been completely clarified. In this case report, a 38-year-old woman was referred to hospital after suffering an acute, non-traumatic back pain one month after delivering her first child. The radiological examination revealed four vertebral fractures. Bone mineral density was reduced, particularly at spine level. Biochemical tests were within normal range, except for increased urinary deoxypyridinoline and a slight reduction of the serum 25-OH vitamin D level. The patient was treated with neridronate, calcium and cholecalciferol. After one month, the patient was free of pain and DXA measurement after six months showed a marked recovery of bone mineral density at the spine and hip level.

Negative health effects of aromatase inhibitors (AI) treatments on bones such as osteoporosis are evidenced. This impact of the aromatase inhibitors on bone. This study aimed to improve the medical assistance given to patients under AI treatment to minimize secondary osteoporosis. Fifty Libyan postmenopausal women treated with AI to fight breast cancer were selected from attendants Tripoli Medical Center (TMC), Oncology Department during year 2014. A closed questionnaire was requested from each women including data about age, age at AI therapy, and types of AI, age at bone densitometry measurement, onset and symptoms of osteoporosis, treatment of osteoporosis and measurement of vitamin D and calcium supplement given. The study revealed a poor consideration given to apply the recommendation in cases suffering osteoporosis events. Our results suggest an active implementation of the guidelines concerning the high corporation levels that should be done between oncologist, specialist in osteoporosis, and patients to offer reliable diagnostic and post-therapy follow up.