A new familial sclerosing bone dysplasia

Osteoscleroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density. Here we report on a consanguineous Lebanese family in which two sisters, aged 39 and 36 years, exhibit a severe genu varum, a square‐face appearance, high forehead, slight proptosis of the eyes, symmetric enlargement of the jaw, protruding chin, and short stature. Bone X‐rays showed the presence of hyperostosis of the cranial base and vault with increased density of the orbits, hyperostosis of the bones, thickening of the cortices, diaphyseal modeling defects, cortical thickening of the medullary cavity, mild enlargement of the medullary cavity of the short long bones, short femoral necks, increased width of the ribs, and narrow interpedicular distances of the lower lumbar spine. Osteodensitometry showed values 200% to 300% above values for age. A cervical MRI revealed the presence of a diffuse osteosclerosis with calcification of the posterior vertebral ligament and a narrow canal between C2 and T2. Blood test results were unremarkable. Serum osteocalcin levels were in the normal range, whereas high values of serum C ‐ telopeptide were noted. A bone biopsy showed only the presence of compact bone and did not allow for histomorphometric analysis. Molecular studies excluded genes known to be involved in sclerosing bone dysplasias as the cause of this condition. In vitro analysis of osteoclast function indicated that contrary to most cases of autosomal recessive osteopetrosis, osteoclasts both formed and resorbed but exhibited a small decrease in resorptive activity compared with osteoclasts generated from normal control individuals. Differential diagnoses are discussed, and the possibility that this may be a novel clinical entity is raised. © 2010 American Society for Bone and Mineral Research.     

Antimetastatic activity and low systemic toxicity of tetradecyl gallate in a preclinical melanoma mouse model

Gallates with eight or more carbon atoms in the lateral chain show potent anticancer activity against various cell lines. However, studies regarding the in vivo antimelanoma activity of tetradecyl gallate (C₁₄) have not yet been reported. In this study an evaluation of the ability of C₁₄ to inhibit metastasis, using lung metastases as a model, was carried out. The experimental mouse melanoma model was established by intravenous injection of metastatic B16F10 melanoma cells. The systemic toxicity of C₁₄ was evaluated in vivo by monitoring the weight, survival, biochemical and hematological parameters, and through histological analysis. It was observed that C₁₄ decreased lung metastasis in vivo by 80% and increased the survival rate of the animals without toxic effects. Additionally, C₁₄ induced cytotoxic effects on B16F10 cells, inhibited the inter-cellular adhesion molecule 1 (ICAM-1) and vascular cell adhesion molecule 1 (VCAM-1) expression, and significantly decreased cell adhesion. These results reveal that C₁₄ has potent antimetastatic ability and is a good candidate for further study as a potential therapeutic agent for tumor metastases.     

Effects of radial shock waves therapy on osteoblasts activities

Radial shock waves therapy (RSWT) differs from extracorporeal shock waves therapy (ESWT) in that it produces a non-focused wave that is dissipated radially at the skin. Few studies have yet explored the effects of RSWT on bone tissue. Osteoblasts in culture flasks were studied by polymerase chain reaction after treatment with RSW (500 impulses, 0.05?mJ/mm²). An inhibited osteoblastogenesis was observed, with a statistically significant reduction in type 1 collagen, osterix, bone sialoprotein and receptor activator NF kappa ligand expression at 24 and 48?h, of osteocalcin at 24, 48 and 72?h, and osteopontin at 48 and 72?h. These findings show that RSWT is not indicated for treatment of delayed fracture union, pseudoarthrosis, and complex regional pain syndrome. The observed reduction in the receptor activator of nuclear factor-kB ligand/osteoprotegerin ratio suggests that it has an inhibiting effect on osteoclastogenesis, which could make it a useful tool for applications in proliferative diseases.     

Chromosome Changes and Their Evolution in Subjects With Past Exposure to Benzene

Chromosome studies of peripheral blood lymphocytes in 25 subjects who had recovered from benzene hemopathy, in four subjects with bone marrow toxicity from benzene, and in three subjects who had recovered from acute benzene poisoning revealed significantly increased rates of “unstable” and “stable” chromosome aberrations which, In most cases, were still present several years after cessation of exposure to the toxic agent and recovery from the poisoning. The follow-up cytogenetic studies showed a tendency toward a decrease in unstable chromosome changes and, generally, a persistence or an increase in stable changes. Bn some cases there was evidence of abnormal clone formation in peripheral blood lymphocytes. Chromosomes of the G group seemed to be involved in stable changes with a frequency higher than expected.     

Antegrade scrotal sclerotherapy and varicocele

Antegrade scrotal sclerotherapy is a simple and easy technique for the treatment of varicocele.The success rate varies between87%and95%,The initlal reflux grade and the number of collateral vessels of the spermatic vein are the most important factors to predict the outcome of the technique.The postoperative complica-tion rate is about7%and the common ones are scrotal hematoma and epididymo-orchitis of slight severity.Testicular athrophy is a rare event(0.6%).This technique offers a considerable cost eduction compared to other therapeutic optione currently available for varicocele.     

Role of non-polio enterovirus infection in pediatric hemolytic uremic syndrome

Verocytotoxin-producing Escherichia coli(VTEC) infections cause most cases of hemolytic uremic syndrome (HUS); 10-30% of patients, however, are negative for VTEC infection. The etiology of HUS in VTEC-negative cases remains poorly understood. Before the association between VTEC infection and HUS was recognized, sporadic cases of HUS with enterovirus infection were reported in the literature. Since May 1988, most cases of HUS in Italy have been reported to the Italian surveillance system, and in 73% of these, evidence of VTEC infection was demonstrated. The aim of this study was to determine whether the frequency of enteroviral infections was different in the acute phase of VTEC-positive and VTEC-negative HUS. Eighty-nine patients were investigated for enteroviral infection, of whom 58 were VTEC positive and 31 VTEC negative. Two serum samples from each patient were examined for seroconversion to enterovirus (coxsackie, echovirus, and picornavirus) by a complement fixation test. Serological evidence of acute infection with non-polio enterovirus was found in 33 patients (37%) [20/58 (34.5%) VTEC positive and 13/31 (41.9%) VTEC negative]. There was no statistically significant difference between the two groups. These results demonstrate that there are no significant differences for enteroviral infection in VTEC-positive and VTEC-negative patients and, therefore, enteroviral infections should not be considered a cause of HUS in VTEC-negative children.