The role of osteoprotegerin (OPG) and estrogen receptor (ER-α) gene polymorphisms in rheumatoid arthritis.

Objective. Osteoclast activation at the cartilage pannus junction is an essential step in the destruction of bone matrix in patients affected by rheumatoid arthritis (RA). Receptor activator of NFkappaB ligand (RANK-L) is responsible for osteoclast differentiation and activation.

Clodronate acts on human osteoclastic cell proliferation, differentiation and function in a bioreversible manner.

Background. Clodronate is used in high bone resorption diseases. Its action was defined as "cytotoxic" based on the induced cellular ATP loss, without any experimental verification of reversibility.

A novel polymorphism at the GNAS1 gene associated with low circulating calcium levels.

The concentration of calcium in the extracellular fluid is crucial for several physiological functions in humans and in normal conditions its circulating levels are maintained between 8.5-10.5 mg/dl.

Bone mass pharmacogenetics and ethnic health implications.

Osteoporosis is a common skeletal disease with a strong genetic component characterized by reduced bone mass and increased risk of fragility fractures. Bone mineral density (BMD) is considered the best established risk factor for osteoporotic fractures.Over the last years a large number of studies have pointed to the variability in many target genes and their relation with BMD and other determinants of fracture risk such as ultrasound bone properties, skeletal geometry and bone turnover markers.

Phytoestrogens: food or drug?

Within the past several years, the relation between diet and health has been accepted by the mainstream nutrition community and in this connection interest in the physiological role of bioactive compounds present in plants has dramatically increased over the last decade.The phytoestrogens are bioactive molecules present as nutritional constituents of widely consumed vegetables. Their name derives from the fact that they are able to bind to estrogen receptors and to induce an estrogenic/antiestrogenic response in target tissues.

Calcitonin and calcitonin receptors.

Calcitonin (CT) is a polypeptide hormone with 32 aminoacids syntetized primarily by the thyroid.Several evidences support the existence of nonthyroidal CT like peptide. The CT gene transcript also encodes a distinct peptide known as calcitonin gene related peptide (CGRP) which is a potent vasodilator and responsible for the stimulation of the glomerular filtration rate.

Methodological models for in vitro amplification and maintenance of human articular chondrocytes from elderly patients.

Articular cartilage defects, an exceedingly common problem closely correlated with advancing age, is characterized by lack of spontaneous resolution because of the limited regenerative capacity of adult articular chondrocytes. Medical and surgical therapies yield unsatisfactory short-lasting results. Recently, cultured autologous chondrocytes have been proposed as a source to promote repair of deep cartilage defects.

Inhibition of angiogenesis via FGF-2 blockage in primitive and bone metastatic renal cell carcinoma.

Background: Fibroblast growth factor-2 (FGF-2) has a role in the angiogenesis induced by renal carcinoma.

Materials And Methods: Blockage of FGF-2 by an antisense oligonucleotide (ASO) or by a mouse neutralizing anti-human FGF-2 monoclonal antibody (anti-FGF-2-mAb) was evaluated on a cell line isolated from a renal carcinoma bone metastasis (CRBM-1990), on Caki-1 and ACHN cells. Cocultures of endothelial cells and ASO- or mAb-treated carcinoma lines were investigated.

Polymorphic analysis of the matrix metalloproteinase-9 gene and susceptibility to sporadic abdominal aortic aneurysm.

Abdominal aortic aneurysm (AAA) has a multifactorial aetiology and the importance of genetic components is getting increasing interest. Alteration in the structure of the vascular extracellular matrix has been described in AAA. Matrix metalloproteinases (MMPs) degrade extracellular matrix proteins which alter the vessel wall stability.

Bisphosphonate-related osteonecrosis of the jaw: the Florence experience.

Aims. Bisphosphonates (BPs) are important therapeutic drugs in multiple myeloma and cancers with bone metastases. Bisphosphonate-Related Osteonecrosis of the Jaw (BRONJ) has been described as a potential side effect of the last generation BPs.

Osteonecrosis in genetic disorders.

The avascular necrosis of bone is characterized by an abnormality of tissue that can occur whenever a disease process causes major cell stress. Some evidence supports a role for genetic factors in some avascular necrosis suggesting that gene mutations could play a role in the pathogenesis of osteonecrosis. These genetic studies provide hope that tools for identifying high risk patients will be available in the future.

Multiple endocrine neoplasia type 2.

Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare hereditary complex disorder characterized by the presence of medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma (PHEO) and other hyperplasia and/or neoplasia of different endocrine tissues within a single patient. MEN2 has been reported in approximately 500 to 1000 families worldwide and the prevalence has been estimated at approximately 1:30,000. Two different forms, sporadic and familial, have been described for MEN2.

Multiple endocrine neoplasia type 1.

Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. It occurs in approximately one in 30,000 individuals. Two different forms, sporadic and familial, have been described.

Novel 1113delC menin gene mutation in a Polish family with multiple endocrine neoplasia type 1 syndrome.

We report the case of a 32-year-old male with hypercalcemia and recurrent nephrolithiasis as a symptom of primary hyperparathyroidism, hypoglycemia due to insulinoma, microprolactinoma, and a large, partially calcified tumor of the upper right leg. The patient underwent several surgical interventions including subtotal parathyreoidectomy, partial pancreatectomy, and percutaneous nephrolithotrypsy. Regular treatment with bromocriptine was required for normalization of serum prolactin concentration.

Low adherence of a clinically healthy Italian population to nutritional recommendations for primary prevention of chronic diseases.

Background And Aim: Several data demonstrated that dietary habits significantly affect the health state of the population. During recent years all the major scientific associations have provided nutritional recommendations for primary prevention of chronic diseases but few data are available about prevalence of adherence to these recommendations in an otherwise healthy population. The aims of this study were to evaluate dietary habits, and to assess the adherence of the general population to the recommendations for correct nutritional behaviour.

The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis.

Background: Polymorphisms of the vitamin D receptor (VDR) gene have been implicated in the genetic regulation of bone mineral density (BMD). However, the clinical impact of these variants remains unclear.

Objective: To evaluate the relation between VDR polymorphisms, BMD, and fractures.

Primitive and bone metastatic renal carcinoma cells promote osteoclastogenesis through endothelial cells.

Background: The contribution of angiogenesis to renal carcinoma bone metastases is virtually unknown.

Materials And Methods: The effect of a cell line from a renal carcinoma bone metastasis (CRBM) was compared in vitro with the primitive renal adenocarcinoma line ACHN, by evaluating the influence on the ability of bone endothelial cells to activate osteoclasts.

Results: The ACHN-conditioned medium produced a significant expression of macrophage-colony-stimulating factor mRNA.

Pancreatectomy in multiple endocrine neoplasia type 1-related gastrinomas and pancreatic endocrine neoplasias.

Objective: The aim of this study was to evaluate the results of pancreatic resection in pancreatic endocrine neoplasias (PENs) in patients affected by multiple endocrine neoplasia type 1 (MEN1) syndrome.

Background: Since these tumors often show an indolent course, the role of diagnostic procedures and type of surgical approach are controversial. Experience with new diagnostic approaches and more aggressive surgery is still limited.

Estrogen receptor alpha and beta polymorphisms: is there an association with bone mineral density, plasma lipids, and response to postmenopausal hormone therapy?

Objective And Design: A cross-sectional segregation analysis of polymorphisms in the estrogen receptor (ER) genes (Pvull and Xbal in ERalpha, and Alul in ERAbeta with bone mineral density in the lumbar spine and forearm and with lipid profile was performed in 1098 postmenopausal women. Additionally, in a subpopulation of 280 women, who completed 1 year of treatment with estrogen plus progestin, the association between genotypes and the response to treatment in both plasma lipids and bone was investigated. In another untreated subpopulation of 443 women, genotype influence on the prevalence of vertebral fractures and on annual rate of bone loss during a mean follow-up period of 11 years was estimated.