Bone Diseases

The epidemiological and clinical profiles of primary hyperparathyroidism (PHPT) have changed markedly over the past few decades. PHPT is now one of the most frequent endocrine disorders in clinical practice, with prevalence increasing with age. The clinical presentation of PHPT has progressively shifted from the classic form, with kidney stones, overt bone disease, and marked hypercalcemia, to a nearly or completely asymptomatic disease. Finally a fruste form of PHPT, normocalcemic hyperparathyroidism (NCPHPT), is increasingly encountered with its diagnostic and therapeutic challenges. The general consensus is that most patients with symptomatic PHPT, if surgery is not contraindicated owing to comorbidities, should be referred for parathyroidectomy (PTX), which remains the only curative treatment. On the other hand, the indication for PTX in asymptomatic and often clinically stable patients still remains controversial. Emerging evidence supports PTX even in asymptomatic patients owi...

Treatment of the loss of the distal part of the radius, including the physis and epiphysis, in a skeletally immature patient requires both replacement of the osseous defect and restoration of longitudinal growth. Autologous vascularized epiphyseal transfer is the only possible procedure that can meet both requirements. Between 1993 and 2002, six patients with a mean age of 8.4 years (range, six to eleven years) who had a malignant bone tumor in the distal part of the radius underwent microsurgical reconstruction of the distal part of the radius with a vascularized proximal fibular transfer, including the physis and a variable length of the diaphysis. All of the grafts were supplied by the anterior tibial vascular network. The rate of survival and bone union of the graft, the growth rate per year, the ratio between the lengths of the ulna and the reconstructed radius, and the range of motion of the wrist were evaluated for five of the six patients who had been followed for three year...

The haemoglobinopathies are a relatively common, heterogeneous group of inherited conditions that are the result of either a quantitative abnormality (e.g. thalassaemia) or structural [e.g. sickle cell anaemia (SCA)] of the globin part of the haemoglobin molecule. Musculoskeletal (MSK) complications are common in patients with haemoglobinopathies and may affect the whole of the MSK system, in addition to bone, which is the primary site of the disease. Typical MSK complications include painful vaso-occlusive disease and osteomyelitis in SCA and reduced BMD in thalassaemia. Patients may also develop a number of related (e.g. gout) or unrelated rheumatic diseases (e.g. inflammatory arthritis and autoimmune CTDs). Treatment of MSK conditions in patients with haemoglobinopathies may be challenging (e.g. bone marrow suppression from disease-modifying agents) and in particular in SCA, steroid therapy (by any route) may precipitate potentially severe vaso-occlusive complications. Rheumatolo...

Animal and human studies have shown that copper is involved in the function of several enzymes. Studies have also shown that copper is required for infant growth, host defense mechanisms, bone strength, red and white cell maturation, iron transport, cholesterol and glucose metabolism, myocardial contractility, and brain development. Copper deficiency can result in the expression of an inherited defect such as Menkes syndrome or in an acquired condition. Acquired deficiency is mainly a pathology of infants; however, it has been diagnosed also in children and adults. Most cases of copper deficiency have been described in malnourished children. The most constant clinical manifestations of acquired copper deficiency are anemia, neutropenia, and bone abnormalities. Other, less frequent manifestations are hypopigmentation of the hair, hypotonia, impaired growth, increased incidence of infections, alterations of phagocytic capacity of the neutrophils, abnormalities of cholesterol and gluco...

With an improvement in the temporal and spatial resolution, computed tomography (CT) is indicated in the evaluation of a great many osteoarticular diseases. New exploration techniques such as the dynamic CT and CT bone perfusion also provide new indications. However, CT is still an irradiating imaging technique and dose optimisation and reduction remains primordial. In this paper, the authors first present the typical doses delivered during CT in osteoarticular disease. They then discuss the different ways to optimise and reduce these doses by distinguishing the behavioural factors from the technical factors. Among the latter, the optimisation of the milliamps and kilovoltage is indispensable and should be adapted to the type of exploration and the morphotype of each individual. These technical factors also benefit from recent technological evolutions with the distribution of iterative reconstructions. In this way, the dose may be divided by two and provide an image of equal quality...

We present the case histories of five patients with Erdheim-Chester disease, a rare lipoidosis that has several typical radiographic features. In all the patients, the diaphyses and metaphyses of the extremities demonstrated a symmetric pattern of diffuse or patchy increased density, a coarsened trabecular pattern, medullary sclerosis, and cortical thickening. The epiphyses were spared in four patients and partially involved

Within the framework of the Medici Project, a paleopathological team of experts from the University of Pisa, the University of Florence and the Superintendence for Florentine Museums, is carrying out a study on 49 tombs of some of the Medici family members (16th-18th centuries) housed in the so-called Basilica of San Lorenzo in Florence. The project involves disciplines such as paleopathology, funerary archeology, physical anthropology, paleonutrition, parasitology, histology, histochemistry, immuno-histochemistry, electron microscopy, molecular biology, and identification of ancient pathogens. The most recent biomedical imaging technologies have been employed to obtain as much information as possible about the genetic make-up, eating habits, life styles and diseases of these important rulers of Renaissance Florence. The first anthropological and paleopathological results are presented here.

As the capability of medical imaging equipment improves, and relatively new modalities such as cone beam CT with guidance becomes more widely available, the range and complexity of image guided orthopedic procedures continues to expand. Challenges include the predictable technical and anatomic issues, as well as the complex operational and political issues associated with moving and integrating an interventional radiology service into the traditional operating room environment.

Klippel-Feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Children with the disorder may have a short, webbed neck, decreased range of motion in the head and neck area, and/or a low hairline at the back of the head. The disease was initially reported in 1884 by Maurice Klippel and André Feil from France.

These consensus guidelines have been compiled with input from the Scientific Advisors of the International Myeloma Foundation. Their production involved several steps including: A 3-day Scientific Advisors meeting, during which each specific area was presented and discussed (May 2002). Review of key literature, especially randomized study results, but also Medline, Internet, Cochrane database searches, and prior guidelines (Br J Haematol 115: 522-540, 2001). Feedback from patients participating in the International Myeloma Foundation, patient programs. These guidelines encompass both the published literature and expert opinions. Recommendations based upon expert opinions are identified as such. The intent is for the guidelines to be international in scope, plus provide recommendations for both clinical practice and research approaches. 'Consensus' reflects general, although not necessarily unanimous, agreement. Details are discussed as appropriate. For convenience, the recom...

Over the past 30 years, an enormous array of biomaterials proposed as ideal scaffolds for cell growth have emerged, yet few have demonstrated clinical efficacy. Biomaterials, regardless of whether they are permanent or biodegradable, naturally occurring or synthetic, need to be biocompatible, ideally osteoinductive, osteoconductive, integrative, porous and mechanically compatible with native bone to fulfill their desired role in bone tissue engineering. These materials provide cell anchorage sites, mechanical stability and structural guidance and in vivo, provide the interface to respond to physiologic and biologic changes as well as to remodel the extracellular matrix in order to integrate with the surrounding native tissue. Calcium phosphate ceramics and bioactive glasses were introduced more than 30 years ago as bone substitutes. These materials are considered bioactive as they bond to bone and enhance bone tissue formation. The bioactivity property has been attributed to the similarity between the surface composition and structure of bioactive materials, and the mineral phase of bone. The drawback in using bioactive glasses and calcium phosphate ceramics is that close proximity to the host bone is necessary to achieve osteoconduction. Even when this is achieved, new bone growth is often strictly limited because these materials are not osteoinductive in nature. Bone has a vast capacity for regeneration from cells with stem cell characteristics. Moreover, a number of different growth factors including bone morphogenetic proteins, have been demonstrated to stimulate bone growth, collagen synthesis and fracture repair both in vitro and in vivo. Attempts to develop a tissue-engineering scaffold with both osteoconductivity and osteoinductivity have included loading osteoinductive proteins and/or osteogenic cells on the traditional bioactive materials. Yet issues that must be considered for the effective application of bioceramics in the field of tissue engineering are the degree of bioresorption and the poor mechanical strength. The synthesis of a new generation of biomaterials that can specifically serve as tissue engineering scaffolds for drug and cell delivery is needed. Nanotechnology can provide an alternative way of processing porous bioceramics with high mechanical strength and enhanced bioactivity and resorbability.

A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of ...

Pathological change on mammoth bones is a difficult and scarcely explored subject. Among the most characteristic pathologies of mammoths are the holes and hollows in the spinous processes of vertebrae. Although they are rarely mentioned in the literature, they appear often in bone materials. Possible causes for these changes previously proposed by other authors include: genetic trait, abnormal ossification, and Kashin-Beck disease. None of these propositions have been explored or explained more widely. The present study was conducted on mammoth bones from some of the biggest mammoth bone assemblages in Central Europe: Krak ow Spadzista, Milovice I, and P redmostí. They are located close to archaeological sites related to Gravettian culture. This vast amount of material enabled us to track the way this kind of mammoth bone pathology not only developed but also healed. For the first time, the changes in the spinous processes of mammoth vertebrae have been divided into classes indicating the stages of their development. The plausible etiology of the holes and hollows as well as other minor changes (before now not even mentioned in the literature) in mammoth vertebrae spinous processes is explained. The main cause seems to be the disorder of calcium and phosphate metabolism. It is suggested that the short-term climate changes had a significant impact on mammoth condition and on this kind of bone changes. The bone changes connected with metabolism disorder point to the decreased physical condition of the animals. Therefore another important question arises e how did the Gravettian hunters pick their prey? Did they choose sick individuals?