Pigmented villonodular synovitis (PVNS) is a benign lesion that usually occurs in tendon sheaths, in burses or in the large joints synovia of the extremities. The pathogenesis of PVNS is still not clear, recently defined as a benign clonal neoplastic proliferation. PVNS is often asymptomatic and it is incidentally diagnosed in the majority of cases; given its local aggressiveness and the high rate of local recurrences it requires wide excision to be successfully treated. In rare cases PVNS can have malignant features sometimes with metastatic diffusion. The malignant form is often associated to the presence of colony-stimulating factor 1 (CSF1) gene mutation. In this report we present a brief literature review and the first case of recurrent hip PVNS with vertebral metastases, associated to an unusual genetic mutation.
The so-called non-rhabdomyosarcoma soft tissue sarcomas (NRSTS) account a very heterogeneous group of tumors. The rarity of each histotype prevents the performance of clinical trials on a single tumor type, and consequently, they have to be analyzed as a group. As definitive evidences about treatment are lacking, the aim of the study is to evaluate the prognosis of NRSTS after a multidisciplinary approach, and to test clinical outcomes of surgical reconstructions.It is performed a retrospective analysis of 33 consecutive pediatric-age patients affected by NRSTS seen at a single institution over a 15-year period. Patients were treated using the European Pediatric Soft Tissue Sarcoma Study Group (EpSSG) protocol, where surgery plays the main role and chemo- and radiotherapy are variable associated on the basis of the subtype of tumor, yet leaving wide gaps.Thirty-nine percent of patients received only surgical treatment, 33% patients received chemotherapy associated to surgery, only 3% had radiotherapy and surgery and the residual 24% underwent both chemo- and radiotherapy associated to surgery. The overall survival of our series was 91% at 1 year, 86% at 5 years, 81% at 10 years. The local free recurrence survival was 93% at 1 year, 85% at 5 years and 10 years. The metastasis free survival was 78% at 1 year, 75% at 5 years and 10 years. Limb-salvage surgery was possible in the majority of cases (97%) and functional outcomes were generally good, with only a 15% of patients complaining functional deficit.The results are generally satisfactory and in line with the poor literature available: they underline the primary importance of surgery and a multidisciplinary approach. Moreover, reconstructive procedures and functional outcomes must not be left out because life expectancy in these patients is steadily increasing.
Osteochondroma (OC) is the most frequent benign bone tumor. Symptomatic lesions, aesthetic issues and the suspect of malignant transformation are the main indications for surgical treatment. In this paper we describe some rare cases of osteochondromas that required particular attention in order to reduce the risk of complications. We discuss four cases: an OC giving compression of sciatic nerve, an OC causing a false aneurysm of the humeral artery, an OC arising from a risky position on the distal femur that required a double surgical access and a symptomatic OC in the fibula that compressed both anterior and posterior tibial vasculo nervous bundle. OC is usually managed with conservative treatment and follow up. Surgical excision is performed when the lesion is at strict contact with vascular or nervous structures becoming symptomatic or when it starts growing during the adult age. Surgery often becomes a very challenging due to position, dimensions and mostly for the closeness to vascular and nervous structures. The treatment of these "difficult exostoses" must be planned carefully and often with a multidisciplinary approach.
The bursae found in the cubital fossa consists of the interosseous bursa and the bicipitoradial bursa. An antecubital cyst resulting from an acute or chronic tear of the anterior capsule at the sacciform recess may communicate with the bicipital radial bursa and become the cause of recurrent and recalcitrant symptoms.A 65 years old woman (B.AM.) came to our Orthopaedics Urgency Room. She was sent to our attention by her family doctor.Clinically, an elastic mass with no apparent adhesion with the superficial tissue layers was observed; it seemed to arise from the joint or from the periarticular tissues.Patient was submitted to surgery removal of the cubital mass. We performed an anterolateral approach to the elbow and proximal forearm. We saved and protected the cutaneous lateralis ante-brachii and the radialis nerves. Then a soft and careful dissection of the mass was performed.The response of histological exam settled the diagnosis of bicipito-brachialis bursitis.Bicipito-brachialis bursitis is a rather uncommon pathologic condition, but can initially be confused with sarcomas of the soft tissues of the elbow such as sarcoma synovialis.
Vertebral fractures are one of the most frequent and serious osteoporotic fractures. Rehabilitation plays an important role in these patients through its potential impact on pain and physical function, not only in the short-term, but also in the long term. The aim of this study is to assess the impact of a 10 days-rehabilitation program on quality of life in the long term. This study was an observational study conducted on patients with fragility vertebral fractures. At baseline and after 6 months the following parameters were evaluated: height and occiput wall distance, Visual Analogue Scale for dorsal and lumbar pain, 20 meters walk test for gait's performance. For quality of life assessment we used the Italian version of EuroQuol-5-dimensions-3-level. Patients were divided in two groups: 39 patients underwent a 10 days-rehabilitation program specific for fragility vertebral fractures, 15 patients did not receive any rehabilitation treatment.Patients who underwent a specific physiotherapy program had better quality of life-related outcomes after 6 months than patients did not perform any rehabilitation, in particular in EQ-Global Health and in the mobility and selfcare dimension of EQ-index.In conclusions this study shows that in the management of fragility vertebral fractures the exercises have an important role.
To report a case of atypical femoral fracture (AFF) induced by long course of oral bisphosphonates (BPs), successfully treated with a multimodal surgical and pharmacological approach. We report about a case presenting to our department with an AFF on a deformed femur (previous surgery for developmental dysplasis of the hip), which we treated with "aggressive" surgical treatment (osteosynthesis + structural bone allograft + autologous bone marrow concentrate) and medical anabolic treatment with teriparatide. Complete radiological fracture healing was observed at 3 months. Difficult fractures should be treated in a combined method, using advanced surgical (usually reserved for non-union or periprosthetic fractures) and pharmacological modalities.
Introduction. Bone mineral density (BMD) is used to diagnose osteoporosis. According to World Health Organization (WHO) osteoporosis was defined as a BMD value more than 2.5 standard deviations below the mean for normal young white women. X-ray absorptiometry (DXA) of proximal femur and lumbar spine is currently the gold standard used to confirm this diagnosis. Recent published studies introduced an innovative echographic approach, defined as REMS technology. The aim of this study is to compare REMS-based BMD values of lumbar spine and femoral neck between pre-menopausal and postmenopausal women.Methods. In this study, a total of 165 women underwent echographic scan using REMS technology. Acquisitions of lumbar spine and femoral neck were done for each patient in two Bulgarian centers. The following characteristics of the women were recorded: age, weight, height, BMI and REMS-based BMD of lumbar spine L-1-L-4, total lumbar spine, femoral neck, trochanter and total hip.Results. The mean REMS-based BMD measurements of postmenopausal group of L-1-L-4 and total lumbar spine were significantly lower than those of the premenopausal group (p=0.000). Femoral neck REMS-based BMD (p=0.011), trochanteric REMS-based BMD (p=0.007) and total hip REMS-based BMD (p=0.009) also differed significantly between the premenopausal and postmenopausal group.Conclusion. Postmenopausal women showed significantly lower lumbar spine REMS-based BMD of L-1-L-4 and total lumbar spine REMS-based BMD compared to premenopausal women. Femoral neck REMS-based BMD of postmenopausal women was also significantly lower than those of premenopausal women.
Background Scientific interest in the clinical aspects surrounding vitamin D has increased exponentially in recent years. Unfortunately, this interest is not currently associated with a proportional level of consensus. Indeed, the large number of studies in this field, which are often of low quality and secondary importance has confused even experts and driven them towards controversial positions. Objectives To shed light on this topic, we arranged a meeting with the aim of collecting the opinions of 50 experts in different specialties (“D..Battito Group”), including internists, endocrinologists, rheumatologists, pediatricians, geriatricians, dermatologists, gynecologists and nephrologists. This meeting dealt with specific questions regarding the management of hypovitaminosis D and aimed to investigate the opinions of Italian experts on this topic. Six key questions were addressed in the meeting. Methods After a short lecture and a 30 minutes discussion, all the experts expressed their opinions, which were recorded together with any specific commentary. Results The results of the meeting demonstrated the presence of insufficient agreement on many key questions regarding the management of vitamin D deficiency, even among clinical experts. Conclusion We hope that the various scientific societies will recognize and analyze the inconsistencies in their own positions and reach adequate consensus, especially on the tenets required for conducting proper and useful investigations on the topic, and that the results of these future new studies will be able to shed the needed light. Acknowledgement Abdel Jaber M, Benini C, Boner A, Bortolotti R, Brigo M, Catalano A, Ferlin A, Girasole G, Idolazzi L, Lello S, Maestri E, Martinis F, Muratore M, Olivari F, Peroni D, Romagnoli E, Ruggiero C, Saviola G, Sella S, Sfrappini M, Silveri F, Vantaggiato E, Venturin A, Zuccaro C. Disclosure of Interests Alessandro Giollo: None declared, Ombretta Viapiana Speakers bureau: Novartis, Abbvie, Eli-Lilly, Sanofi Genzyme, Angelo Fassio Speakers bureau: Abiogen Pharma, Francesco Bertoldo: None declared, Vania Teresa Braga: None declared, Maria Luisa Brandi: None declared, Stefano Calvieri: None declared, Luisella Cianferotti Speakers bureau: Abiogen Pharma, Bruno Farmaceutici, Shire, Annamaria Colao: None declared, Patrizia D’Amelio: None declared, Giovanni Mario D’Avola: None declared, Luca Degli Esposti: None declared, Bruno Frediani: None declared, Sandro Giannini: None declared, Andrea Giusti Grant/research support from: Abiogen Pharma, Consultant for: EffRx, Speakers bureau: Abiogen Pharma, Eli Lilly, AMGEN, Andrea Giustina: None declared, Stefano Gonnelli: None declared, Nazzarena Malavolta: None declared, Claudio Marcocci Grant/research support from: Shire, Speakers bureau: Shire and AbiogenPharma, Salvatore Minisola: None declared, Nicola Napoli: None declared, Ranuccio Nuti: None declared, Giovanni Passeri Grant/research support from: Abiogen Pharma and Chiesi Farmaceutici, Speakers bureau: Abiogen Pharma and Chiesi Farmaceutici, Maurizio Rossini: None declared, Luigi Sinigaglia: None declared, Francesco Vierucci: None declared, Davide Gatti Speakers bureau: Abiogen, Amgen, Janssen-Cilag, Mundipharma, Pfeizer
We report a 63-year old postmenopausal woman who presented a bilateral atypical femoral fracture (AFF) during treatment with alendronate for glucocorticoid-induced osteoporosis. She was treated with chronic high-doses of gluWe cocorticoids for immune thrombocytopenic purpura. After 7 years of antiosteoporotic treatment with alendronate with apparently good clinical response, according to BMD and bone marker assessment, she developed a bilateral AFF. We show the BMD. TBS and biochemical evolution of bone turnover markers during the follow-up of this patient prior to the development of the fracture. The present case, illustrates several interesting aspects related to the treatment and monitoring of glucocorticoid-induced osteoporosis, such as the insufficient value of BMD assessment in the monitoring of treatment, and the potential usefulness of TBS in the evaluation of this clinical condition. In addition, this case shows the importance of bone remodelling in AFF development.
In recent decades the research and progress of medical devices in limb lengthening have progressively evolved, still relying on the concept of slow symmetrical distension of callus (callotassis). Currently the elongation methods available are varied and varied, varying from the use of external circular or axial fixators, to the use of telescopic endomidullary nails, to the combination of internal and external fixation methods. We report a case of tibial elongation with a monolateral external in a tibial bone previously subjected to reconstruction by free vascularized fibula graft.
The clarification of the molecular basis of diseases allows the discovery of new treatment strategies, both in terms of chirurgical, pharmacological, biological, cellular, and genetic therapies. Thus, good use of genetic diagnosis can positively impact the life of the patient and his relatives.DNA sequencing technologies, in use since the early 1970s, have brought about a dramatic change on the scenario of genetic diseases thanks to the advent of Next Generation Sequencing (NGS) over the past 15 years. The application of these new sequencing strategies by a system-wide, unbiased approach allows to identify all DNA variants in the genome simultaneously, thus marking the transition from the Mendelian era to the genomic era.The sequencing of the whole set of protein-coding genes (Whole Exome Sequencing, WES), formally demonstrated that single gene disorders are the exception more than the rule. Indeed, the same embryogenetic defect is frequently associated with variants in many different genes, each sufficient to prevent proper embryonic development. The WES approach also highlighted examples of pleiotropy, showing that variants in the same gene can be associated with apparently unrelated diseases, thus increasing our understanding of the underlying pathogenetic processes, and implicitly, their treatment and prevention. Furthermore, the WES investigation is also highlighting the role of modifier genes even in diseases whose molecular bases were considered definitively elucidated, and both WES and WGS (Whole Genome Sequencing, including non-coding sequences) are clarifying the role of common variants, which in association with rare allelic variants, partly explain the diseases characterized by incomplete penetrance.Equally important for understanding the molecular basis of the disease are the emerging studies related to high-resolution CpG profiling based on NGS. These investigations allow the fine mapping of those epigenetic signals that are determinant in the expression / silencing of tissue-specific genes, not to mention the numerous driver and passenger genes crucial to cancer deveolopment.
In April 2013, a 73-years-old Japanese man was admitted to our institute for the evaluation of metastatic liposarcoma. Soft tissue adjacent to the bone tissue was investigated immunohistochemically to evaluate the mechanism of new bone formation. Multinucleated giant cells accumulating on the bone tissue surface were strongly positive for tartrate-resistant acid phosphatase (TRAP) and cathepsin K, satisfying the histochemical criteria for identification of osteoclasts. In contrast, mononuclear cells on the bone tissue surface demonstrated immunopositivity for alkaline phosphatase (ALP) and were associated with osteocalcin staining of the bone surface and interior, indicating that these cells were probably osteoblasts.
Background. Studies have demonstrated direct correlations between birthweight and body composition on adult-onset osteoporosis.Objective. Determine the impact of birthweight and body composition in American adolescents on total bone mineral content excluding head (tBMC) and total bone mineral density excluding head (tBMD).Design/Methods. Cross-sectional study of individuals 13 to 15 years old who participated in the National Health and Nutrition Examination Survey (NHANES) from 1999 to 2006.Primary outcome. Total body excluding head BMC (tBMC) and total body excluding head BMD (tBMD).Results. The cohort consisted of 1,295 males and 1051 females with an overall average age of 14 +/- 0.8 years. tBMC, tBMD, and lean body mass index (LBMI) were greater in males than in females (tBMC: 1,330 +/- 398 g vs. 1,115 +/- 247 g, p<0.001; tBMD: 0.741 +/- 0.13 g/cm(2) vs. 0.686 +/- 0.09 g/cm(2), p<0.001: LBMI: 1.63 +/- 0.27 g/cm(2) vs. 1.47 +/- 0.22 g/cm(2), p<0.001). Fat mass index (FMI) was lower in males than in females (0.603 +/- 0.36 g/cm(2) vs. 0.812 +/- 0.37 g/cm(2), p<0.001). Significant correlations were seen between LBMI and tBMC (males: p<0.001, r(2) =0.51; females: p<0.001, r(2) =0.40) and tBMD (males: p<0.001, r(2) =0.42; females: p<0.001, r(2) =0.32). Weaker, statistically positive correlations were seen between birthweight and tBMC (males: p<0.002. r(2) =0.007; females: p<0.001, r(2) =0.028) and with tBMD (males: p<0.073, r(2) =0.003; females: p<0.01, r(2) =0.011). Birthweight, gender, age, ethnicity, phosphorus levels, FMI. and LBMI were the main determinants of tBMC (r(2) =0.61). This multivariate model was stronger than LBMI alone at predicting the variance of bone mineral measurements in adolescents.Conclusions. In our study, birthweight had a slight correlation with bone mineral measurements, but LBMI was a far greater determinant of tBMC and tBMD in adolescents.
Sarcopenia and dysphagia are two disabling conditions sharing several etiological risk factors and their coexistence has captured the scientific interest in the last few years. Malnutrition, aging and inactivity have been considered the main risk factors underlying sarcopenia and dysphagia; however they are not sufficient to fully elucidate the patho-physiological mechanisms underpinning these two conditions. Recent studies showed that sarcopenia could be a main cause of dysphagia and similarly dysphagia might directly induce or worsen sarcopenia. Indeed, these two pathological conditions are widely considered independent risk factors for each other. Recently, the term "sarcopenic dysphagia" was introduced to identify a condition characterized by the loss of muscle mass and strength of deglutition musculature, with consequent impairment in swallowing function. However precise diagnostic criteria and treatment indications are lacking. Further evidence is needed to define unequivocal diagnostic criteria and the role of a multi-disciplinary treatment, also known as "rehabilitation nutrition", in the management of sarcopenic dysphagia.
The knee is the largest synovial fluid joint and the most frequent site for osteoarthritis. Knee Osteoarthritis (KO) is a progressive, multifactorial and degenerative condition involving cartilage, subchondral bone and synovial membrane. The role of inflammation is not completely clarified; then, if the inflammation triggers the osteoarthritic changes or, conversely, if the inflammation is a consequence of the osteoarthritic changes continues to be a matter of debate. The main aim of the management of KO is to control pain and to improve articular function and quality of life. Traditional and current pharmacological treatment rely on analgesics, oral and topical non-steroidal anti-inflammatory drugs (NSAIDs), chondroprotective agents, intra-articular corticosteroids (CS) and viscosupplementation with hyaluronic acid (HA). New therapeutics are based on recent progress in understanding KO pathogenesis, including changes in subchondral bone, advanced drug delivery systems and novel platform biotechnology generating sophisticated molecules. Supplements can be considered in the treatment strategy of the disease.
Introduction. Paget's Disease of the Bone (PDB) is the second most common metabolic bone disorder. However, making a diagnosis can be very challenging due to the likelihood of asymptomatic periods, non-specific presentations, and the absence of highly specific lab testing for this condition. PDB is often under-diagnosed and undertreated. The classic presentation of PDB is the incidental discovery of hyperactive bone remodeling on imaging studies. PDB is typically asymptomatic and most commonly manifests in the pelvis, spine, skull, or lower extremities and is often polyostotic in nature. This case report outlines a unique presentation of symptomatic, monostatic PDB located in the humerus.Case presentation. A 54-year-old male presents with right upper extremity pain that has progressed for the last two months. The pain is now unrelenting and severely affecting the patient's quality of life. After a spinal X-ray showed a possible compression fracture of T7, a bone scan was ordered. The bone scan identified hyperactivity of the right humerus. An X-ray of the humerus, followed by CT-guided biopsy, demonstrated mixed lytic-sclerotic remodeling and thickened bony trabeculae with fibrotic marrow, respectively. Malignancy was ruled out with immunohistochemistry and a final diagnosis of PDB was made. The patient was treated with daily oral alendronate which leading to a reduction in pain and normalization of his serum alkaline phosphatase level.Conclusion. Although it is atypical for PDB to be symptomatic, it may present as severely debilitating bone pain. Making this diagnosis can have a significant impact on quality of life for the patient and is treatable due to the availability of an effective therapy. For this reason, Paget's Disease of the Bone should be included in the differential diagnosis for bone pain in any location. This case serves as an example to the value of integrating radiologic, pathologic, and clinical findings to make an accurate diagnosis and to subsequently guide effective therapy.
A 60-year-old female with severe pain in extremities had skin thickening in hands to elbows and feet to knees, loss of skin folds, microstomia and digital pitting scars. A CREST (Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly. Telangiectasias) syndrome was diagnosed. The generalized calcinosis made difficult a surgical treatment. Diltiazem alone or in combination with other drugs could be a useful therapy in patients with pronounced calcifications.
