Primary Bone Disease Research Articles

Is oral health correlated with skeletal phenotype in primary metabolic bone diseases? A preliminary report of the Greek experience

Is oral health correlated with skeletal phenotype in primary metabolic bone diseases? A preliminary report of the Greek experience

Bone disorders in chronic kidney disease patients: A teaching hospital based study in central India

Background: Kidneys and bones are the major metabolic buffer systems in our body that help us to maintain the internal milieu. Disease in one naturally is going to affect the other in long term. The association between the two has long been known but not brought into the limelight till the recent decades. This increase in the importance being given to the mineral abnormalities is due to its high association with the cardiovascular disease and death due to CVD. Chronic kidney disease (CKD) is a progressive loss in renal function which involves in deterioration in mineral homeostasis with disruption of normal serum and tissue concentration of phosphorus and calcium. Also changes in circulating levels of hormones parathyroid hormone (PTH), calcitriol (1, 25(OH) 2 D), and fibroblast growth factor-23 (FGF-23). Here our aim is to study the prevalence of markers associated with MBD in CKD stage 3-5 patients. Patients with CKD stage 3-5 were included in this observational study with all necessary parameter. X-RAY abdomen and echocardiography was done to look for evidence of vascular and valvular calcification respectively. Aims and Objectives: To evaluate the bone disorders in chronic kidney disease patients.Material and Methods: This retrospective study was conducted in Department of Medicine, RKDF Medical College Hospital & Research Center, Bhopal, Madhya Pradesh, India. All CKD patients from stage 3-5 were included. Likewise Patients having pre-existing systemic diseases like SLE/RA, liver disease, patients on steroids or other drugs which have effect on bone metabolism like calcium, phosphate binders, vit D, bisphosphonates, patients with primary bone diseases, patients on maintenance hemodialysis and h/o fracture in last. Statistical analysis was done using SPSS software.Results and Observations: A total of 175 patients (132 males, 43 females) (M:F = 3:1) were included in this study with a mean age of 50.54 years. Among CKD stages 3 to 5, the prevalence of hypocalcemia was 21.5%, 33.9% & 48.9%, hyperphosphatemia was 11.1%, 25.5% & 63%, hyperparathyroidism was 48.1%, 67.3% & 89.1%, high total alkaline phosphatase was 0%,5.9% & 45.7%, low 25-OH-vit D was 59.2%, 70.6% & 79.4% respectively. Low 25 (OH) D levels, hyperparathyroidism, and hyperphosphatemia were the noticeable markers of CKD-MBD in our patients. Mineral bone disorder are common in CKD patients which start in early CKD stages & worsen with disease progression that causes morbidity and decreased quality of life.Conclusion: Diabetic and Non-diabetic CKD-MBD are not different and hence need not be addressed separately. Serum bone marker assay should be included in CKD-MBD screening. The screening should begin in the early stage of CKD. In conclusion, we observed Low 25 (OH) D levels, hyperparathyroidism, and hyperphosphatemia were the noticeable markers of CKD-MBD in our patients. Mineral bone disorder are common in CKD patients which start in early CKD stages & worsen with disease progression that causes morbidity and decreased quality of life. Hence, this shows the importance of early recognition, understanding of their patho-physiological consequences & planning management strategies to prevent their progression, thereby reducing the cardiovascular morbidity & mortality.

Congenital pseudarthrosis of the tibia: biological and biomechanical considerations to achieve union and prevent refracture.

Congenital pseudarthrosis of the tibia (CPT) is likely to be a primary periosteal disease and secondary bone disease. The primary goal of treatment is to obtain union, correct the diaphyseal deformity, correct any proximal fibular migration and prevent refracture. The pathobiology demonstrates increased osteoclasis by the surrounding fibrous hamartoma and reduced osteogenesis and bone morphogenic protein production by the bone. This leads to a loss of remodelling potential and gradual bowing and atrophy of the bone with eventual fracture of the tibia and or fibula. This recommends the synergistic use of bisphosphonates and bone morphogenic protein. The pathomechanics of CPT implicate the anterolateral bowing, narrow diameter of the atrophic bone ends and proximal fibular migration. These biomechanical factors can be addressed by means of straightening of the deformity, intramedullary support of both bones, stable fixation and reduction of proximal migration of the fibula. A summary of the literature on CPT shows that the mean probability of achieving primary union without refracture, by most treatments is 50% (12% to 80%). Two recent studies have shown a much higher success rate approaching 100%, by creating a cross-union between the tibia and fibula. The cross-union with intramedullary reinforcement of the bone makes refracture unlikely due to the cross-sectional area of union with its two-bar linkage. A new classification to guide such treatment is also proposed.Level of EvidenceV – expert opinion

6. Rosai–Dorfman presenting as a femoral lesion: A case report

Background: Rosai–Dorfman disease (RDD) is a rare disorder characterised by the proliferation of foamy appearing histiocytes with emperipolesis and background plasma cells. RDD usually presents as nodal disease. Approximately 2–10% of patients have bone involvement. Presentation as primary bone disease is rare.

Spectrum of MDP Bone Scan in Paediatric Patients - Experience at NINMAS

Objective: To assess the clinical indications and spectrum of MDP bone scan findings in paediatric patients referred to the National Institute of Nuclear Medicine and Allied Sciences (NINMAS).Materials and Methods: Paediatric patients, age ranged from 2-18 years referred to NINMAS from January 2014 to November 2015 for bone scintigraphy were included in this study. All patients had 99mTc MDP bone scan for various clinical indications. The spectrum of clinical indications and bone scan findings were recorded and analyzed.Results: Total 2323 bone scans with 99mTc MDP were done in NINMAS in the above mentioned period. Among them 91 (3.917%) cases were in paediatric age group. Of which 82 (90.11%) patients with known malignancy were referred for radionuclide skeletal survey. The most common clinical indications were osteosarcoma 30 (32.96%) cases and Ewing’s sarcoma 25 (27.47%) cases followed by five neuroblastoma (5.49%), four (4.39%) rhabdomyosarcoma, three (3.29%) Langerhans cell histocytosis and rest others. Bone scan was positive in 58 (63.7%) cases and normal in 33 (36.3%) cases. Out of 58 cases 38 had features of primary bony lesion, 10 cases had multiple metastases, four cases had primary bone tumour of Ewing’s sarcoma as well as metastases.Conclusion: Bone scan is a popular imaging modality for skeletal survey of paediatric patients in malignancy, both primary and metastatic bone diseases. Bone scanning in paediatric patients contributes a major role in detecting the cause and localizing the pathology of bone. High quality imaging, interpreted by physicians familiar with paediatric diseases, correlation with clinical records and other imaging are mandatory to maximize the benefit.Bangladesh J. Nuclear Med. 19(1): 28-31, January 2016

Muscle-Bone Interactions in Pediatric Bone Diseases.

Here, we review the skeletal effects of pediatric muscle disorders as well as muscle impairment in pediatric bone disorders. When starting in utero, muscle disorders can lead to congenital multiple contractures. Pediatric-onset muscle weakness such as cerebral palsy, Duchenne muscular dystrophy, spinal muscular atrophy, or spina bifida typically are associated with small diameter of long-bone shafts, low density of metaphyseal bone, and increased fracture incidence in the lower extremities, in particular, the distal femur. Primary bone diseases can affect muscles through generic mechanisms, such as decreased physical activity or in disease-specific ways. For example, the collagen defect underlying the bone fragility of osteogenesis imperfecta may also affect muscle force generation or transmission. Transforming growth factor beta released from bone in Camurati Engelman disease may decrease muscle function. Considering muscle-bone interactions does not only contribute to the understanding of musculoskeletal disorders but also can identify new targets for therapeutic interventions.

Impact of primary metastatic bone disease in germ cell tumors: results of an International Global Germ Cell Tumor Collaborative Group G3 Registry Study

Bone metastases (BM) are rare in germ cell tumor (GCT) patients. Systematic data on risk factors, treatment and outcome are largely lacking. A database created by an international consortium including 123 GCT patients with BM at primary diagnosis was retrospectively analysed. Survival estimates were calculated by the method of Kaplan-Meier and compared by log-rank testing. Cox regression analysis was applied for risk factor analyses. In our cohort of patients, BM at primary diagnosis more often affected multiple sites (61%) and BM as the only metastatic site were scarce (9%). Histology was non-seminoma in 77% and seminoma in 23% of patients. After a median follow-up of 18months (range, 0-228), estimated median PFS and OS were 21 (range, 0-225) and 98months (95%CI, 36-160), respective 2-year PFS and OS rates were 34% and 45%. Negative prognosticators in univariate analysis were a mediastinal primary (PFS; HR 1.92; 95%CI, 1.05-3.50; OS; HR 2.16; 95%CI, 1.14-4.09) and the presence of liver and/or brain metastases (PFS; HR 1.89; 95%CI, 1.13-3.17; OS; HR 1.91; 95%CI, 0.024) Seminomatous histology was the strongest predictor for favorable PFS (multivariate Cox regression; HR, 0.32; P=0.011) with respective 2-year PFS and OS rates of 68% and 75% compared with 24% and 36% for non-seminoma patients. Outcome of GCT patients with primary metastatic bone disease is particularly poor in non-seminoma patients, even worse than the expected outcomes of the general IGCCCG 'poor prognosis' group. This series does not indicate that mutlimodal treatment improves the prognosis over stage-adapted chemotherapy alone, however, the statistical power of these results is limited due to low patient numbers in each specific subgroup.

Fourier transform infrared spectroscopic studies of radiation-induced molecular changes in bone and cartilage

Introduction: Ionizing radiation therapy is used as adjuvant, primary or palliative treatment of patients with primary tumors and metastatic bone disease. However, in cancer treatment, radiation al...

Prevalence of Vertebral Fractures in Children with Suspected Osteoporosis

To explore the prevalence and anatomic distribution of vertebral fractures in disease groups investigated for primary and secondary osteoporosis, using vertebral fracture assessment (VFA). VFA was performed independently by 2 nonradiologists, in 165 children (77 males, 88 females) as part of their investigation for osteoporosis. Vertebral bodies from T6 to L4 were assessed for vertebral fractures using the Genant scoring system. The common readings for the presence of vertebral fractures were used for evaluating the prevalence and anatomic distribution of vertebral fractures. The median age of the subjects was 13.4 years (range, 3.6, 18). Of the 165 children, 24 (15%) were being investigated for primary bone disease, and the remainder had a range of chronic diseases known to affect bone health. Vertebral fractures were identified in 38 (23%) children. The distribution of the vertebral fractures was bimodal, with vertebral fractures peaks centered at T9 and L4. Conditions associated with increased odds for vertebral fractures were inflammatory bowel disease (OR, 3.3; 95% CI, 1.4, 8.0; P = .018) and osteogenesis imperfecta (OR, 2.3; 95% CI, 1.04, 5.8; P = .022). Among children with vertebral fractures, those with Duchenne muscular dystrophy (P = .015) and osteogenesis imperfecta (P = .023) demonstrated higher number of vertebral fractures than the other disease groups. VFA identified the presence of vertebral fractures, in a bimodal distribution, in both primary bone disease and chronic disease groups. VFA is a practical screening tool for identification of vertebral fractures in children and adolescents at risk of fragility fractures.

Bilateral Femoral Neck Fracture due to Electric Shock

ABSTRACTSimultaneous bilateral fractures of the femoral neck are rare injuries in patients without underlying pathological conditions. We report a case of a 50-year-old male, who sustained bilateral femoral neck injury resulting from electric shock with 440 V of direct current. Bilateral femoral neck fracture is rare. Bilateral femoral neck fracture due to electric shock is even rarer. This case report highlights bilateral femoral neck fracture without primary and secondary bone disease. Late presentation and unclassified pattern of fracture are the other features.How to cite this articlePeswani R, Chandrakar BL, Thakkar R. Bilateral Femoral Neck Fracture due to Electric Shock. J Med Sci 2016;2(1):18-20.

Cigarette Smoking Is Associated with a Lower Concentration of CD105(+) Bone Marrow Progenitor Cells.

Cigarette smoking is associated with musculoskeletal degenerative disorders, delayed fracture healing, and nonunion. Bone marrow progenitor cells (BMPCs), known to express CD105, are important in local trophic and immunomodulatory activity and central to musculoskeletal healing/regeneration. We hypothesized that smoking is associated with lower levels of BMPC. Iliac bone marrow samples were collected from individuals aged 18–65 years during the first steps of pelvic surgery, under IRB approval with informed consent. Patients with active infectious or neoplastic disease, a history of cytotoxic or radiation therapy, primary or secondary metabolic bone disease, or bone marrow dysfunction were excluded. Separation process purity and the number of BMPCs recovered were assessed with FACS. BMPC populations in self-reported smokers and nonsmokers were compared using the two-tailed t-test. 13 smokers and 13 nonsmokers of comparable age and gender were included. The average concentration of BMPCs was 3.52 × 105/mL ± 2.45 × 105/mL for nonsmokers versus 1.31 × 105/mL ± 1.61 × 105/mL for smokers (t = 3.2, P = 0.004). This suggests that cigarette smoking is linked to a significant decrease in the concentration of BMPCs, which may contribute to the reduced regenerative capacity of smokers, with implications for musculoskeletal maintenance and repair.

Is there an association between clinical features, response to diagnostic analgesia and radiological findings in horses with a magnetic resonance imaging diagnosis of navicular disease or other injuries of the podotrochlear apparatus?

Previous descriptions of the clinical features of navicular disease occurred before the widespread use of magnetic resonance imaging (MRI) allowed a more definitive diagnosis of foot pain. The objective of this study was to compare the clinical features of horses with lesions of the podotrochlear apparatus with those with other causes of foot pain. It was hypothesised that primary navicular bone disease would be associated with more advanced radiological findings than other diagnoses. A retrospective study was performed of all horses examined at a referral centre with a definitive diagnosis of foot pain based on MRI ± post-mortem examination. Clinical examination findings, response to diagnostic analgesia and radiological grading of the navicular bone were compared among five diagnosis groups: (1) primary navicular bone pathology (NB); (2) lesions of the collateral sesamoidean ligament and/or distal sesamoidean impar ligament (CSL + DSIL); (3) primary deep digital flexor tendon injury (DDFT); (4) navicular bone pathology and other lesions of the podotrochlear apparatus ± DDFT (PTA) and (5) Other.There were 702 horses (NB, 62; CSL + DSIL, 180; DDFT, 69; PTA, 92; Other, 299). Horses with PTA injuries were more frequently unilaterally lame than other groups (P = 0.04). Horses with DDFT injury were more likely to exhibit pain on turning than other groups (P < 0.01). There were no associations between response to diagnostic analgesia and diagnostic group, and no association between radiological grade and diagnostic group. Clinical examination findings generally did not discriminate between diseases of the PTA and other causes of foot pain. Overall radiological scores of the navicular bone did not accurately predict navicular bone pathology.

Surgical management in patients with bisphosphonate-related osteonecrosis of the jaw: four cases

Bisphosphonates, which have been introduced into medicine in the early 1990’s, is now being used succesfully for treatment of primary osteolitic bone diseases such as metastathic diseases, multipl myeloma, paget disease, hypercalsemia in malingnancies and management of pain occuring in these bone pathologies. Their half-life in circulation is very short, but they can stay for years in bone tissue. On the other hand, reports about bisphosphonate-related osteonecrosis of the jaw has been increasingly published recently. In this case report, bisphosphonate-related osteonecrosis of the jaw and treatment modalities has been evaluated in four cases.

Hidatidosis osea primaria de tibia. presentación de un caso

Primary hydatid disease of the tibia. Hydatidosis is an endemic disease in different parts of the world. Its causal agent is the cestode from the genus Echinococcus. The most commonly affected organs in humans are liver and lung. Bone hydatid disease is a very rare entity, accounting for 0.5 to 4% of total cases. We report a case of a 58 year-old woman from La Rioja, Argentina, who consulted for left infapatellar pain and walking disability of eight months duration. Imaging studies showed a cystic lesion which involved metaphysis and diaphysis of left proximal tibia. Surgical resection was performed and histopathological study confirmed that it was a hydatid cyst. The patient did well and completed three cycles of treatment with albendazole. Currently, she has no evidence of disease and she recovered motility of her left leg. Primary hydatid bone disease, where there is no evidence of systemic disease, is even more unusual. Tibia involvement occurs in up to 15% of the cases. These lesions clinically manifest when they suffer any type of complications. Preoperative diagnosis is mainly made by imaging studies. Lesions are usually osteolytic and can involve cortical bone and extend to soft tissues. Differential diagnosis with inflammatory processes and bone tumors should is mandatory. Treatment is surgical and prognosis is poor due to its high morbi-mortality rate and recurrence risk from 70 to 80%.

Analyses of muscular mass and function: the impact on bone mineral density and peak muscle mass

Bone density and bone mass are commonly regarded as the essential parameters to describe fracture risk in osteology. Because fractures primarily depend on bone strength and secondarily on bone mass and density, bone strength should be the main parameter to describe fracture risk. The quantitative description of bone strength has the prerequisite that bone geometry is assessed despite bone density. Thus, volumetric osteodensitometric methods should be preferred, which enable the physician to evaluate parameters primarily associated with bone modeling or remodeling. Modeling describes the adaptation of bone geometry to applied muscular forces in contrast to remodeling representing bone turnover. The adaptation of bone geometry to muscle forces led to the term functional muscle-bone unit, which enables the physician to differentiate between primary and secondary bone diseases. Primary bone diseases are characterized by a defective adaptation of bone to muscle forces in contrast to secondary bone diseases, which are primary diseases of the neuromuscular system. Because muscle forces are essential in the feedback loop of bone adaptation to forces (mechanostat), the assessment of muscle function has become an essential part of osteologic diagnostics in pediatrics. Dynamometric and mechanographic methods have been introduced to properly characterize kinetic aspects of muscle function in children and adolescents. Therefore, emphasis should be put on the assessment of muscle function despite the evaluation of osteodensitometric parameters in pediatric osteology.

Discordance between hormone receptor profile of primary breast cancer and metastatic bone disease: should bone marrow biopsy be considered a standard of care?

Discordance between hormone receptor profile of primary breast cancer and metastatic bone disease: should bone marrow biopsy be considered a standard of care?

Bilateral femoral neck fractures in an adult male following minimal trauma after a simple mechanical fall: a case report

BackgroundDespite being rare there are several reports in the medical literature of bilateral femoral neck fractures in adult patients. They have been reported to have occurred following major trauma, or as a result of primary or secondary bone disease. In this case report we describe for the first time in the literature bilateral femoral neck fractures in a patient following minimal trauma after a simple mechanical fall.Case presentationWe describe the case of an 84-year-old gentleman who sustained bilateral intracapsular fractures following a simple mechanical fall. Prompt diagnosis and early surgical intervention resulted in a satisfactory outcome.ConclusionThis case highlights that in the elderly, even in the absence of primary and secondary bone disease, bilateral neck of femur fractures can occur following relatively minor trauma. Consequently, the orthopaedic surgeon, emergency physician and general practitioner should be aware of this injury, particularly when managing traumatic injuries in confused patients.

Vitamin D Deficiency and Insufficiency in Children With Osteopenia or Osteoporosis

To the Editor .— In the study by Bowden et al,1 vitamin D status was reported for 85 children referred to a pediatric metabolic bone clinic. The authors concluded that “vitamin D insufficiency is common even in children with recognized osteopenia and osteoporosis caused by primary metabolic bone disease or secondary to chronic illnesses.” Although interesting and provocative, several methodologic flaws raise concerns about the validity of their findings and conclusions. One major concern is their use of the terms osteopenia and osteoporosis. Despite acknowledgment from the authors that there are no …

Prevalence of Vitamin D Deficiency and Insufficiency in Children With Osteopenia or Osteoporosis Referred to a Pediatric Metabolic Bone Clinic

The purpose of this work was to determine the prevalence of vitamin D deficiency and insufficiency in children with osteopenia or osteoporosis and to evaluate the relationship between serum 25-hydroxyvitamin D levels and bone parameters, including bone mineral density. Serum 25-hydroxyvitamin D, 1,25 dihydroxyvitamin D, parathyroid hormone, and other bone markers, as well as bone mineral density, were obtained for 85 pediatric patients with primary osteoporosis (caused by osteogenesis imperfecta or juvenile idiopathic osteoporosis) and secondary osteopenia or osteoporosis caused by various underlying chronic illnesses. Pearson's correlation was used to assess the relationship between vitamin D levels and different bone parameters. Vitamin D insufficiency (defined as serum 25-hydroxyvitamin D <30 ng/mL) was observed in 80.0% of patients. Overt vitamin D deficiency (defined as serum 25-hydroxyvitamin D <10 ng/mL) was present in 3.5% of patients. Using a more recent definition for vitamin D deficiency in adults (defined as serum 25-hydroxyvitamin D <20 ng/mL), 21.1% of the patients had vitamin D deficiency. There was a significant inverse correlation between 25-hydroxyvitamin D and parathyroid hormone levels. There was a positive correlation between 1,25 dihydroxyvitamin D and parathyroid hormone, alkaline phosphatase, and urine markers for bone turnover. Vitamin D insufficiency was remarkably common in pediatric patients with primary and secondary osteopenia or osteoporosis. The inverse relationship between 25-hydroxyvitamin D and parathyroid hormone levels suggests a physiologic impact of insufficient vitamin D levels that may contribute to low bone mass or worsen the primary bone disease. We suggest that monitoring and supplementation of vitamin D should be a priority in the management of pediatric patients with osteopenia or osteoporosis.

Anaplastic large cell lymphoma of bone—is it a bad tumor?

A teenage boy presented with a CD30-positive anaplastic large cell lymphoma (ALCL) affecting his scapula and was successfully treated with chemotherapy. His clinical features and outcome were compared with other cases described in the literature. A further review of 11 ALCL cases with bony involvement treated in the UK since 1990, including two with primary bone disease, did not suggest an unfavorable treatment outcome. This finding will need to be confirmed by further study on a larger patient cohort with primary bone ALCL.