Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation

Mutations in BRCA1 and BRCA2 genes confer a high risk of breast and ovarian cancer but the incomplete penetrance of these mutations suggests that other genetic and/or environmental factors may modify this risk. We present a family where all affected members carried a mutation in the BRCA1 gene and the index case had suffered from cancer twice in the last 27 years, whereas her monozygotic twin sister, also a carrier of the mutation, remained healthy. As copy number variants (CNVs) contribute to phenotypic diversity, a comparative genomic hybridization array (CGH) was performed to see whether the differences in the CNV profile were a modifier factor of the phenotype in our monozygotic twins. Our results show that differences in the CNVs profile were not the cause of the extremely variable penetrance observed in our MZ twin. The search for an explanation should not therefore be limited to genetic changes at the level of the DNA sequence.     

Injectable acrylic bone cements for vertebroplasty with improved properties

Currently commercially available acrylic bone cements lack adequate radiopacity and viscosity when they are used in percutaneous vertebroplasty (PVP). In this work improved formulations of radiopaque and injectable poly(methyl methacrylate) bone cements were prepared with different amounts (10-50 wt.%) of BaTiO3 or SrTiO3 particles as the radiopaque agent. Two sets of cements were prepared by using untreated or silanated radiopaque particles, respectively. The influence of the content and nature of the radiopaque agent as well as its silanation with 3-(trimethoxysilyl) propyl methacrylate (gamma-MPS), on the curing parameters, residual monomer content, radiopacity, mechanical properties, and injectability of the resulting materials, was examined. Doughing and setting times, maximum temperature, and compressive strength of all formulations fulfilled the requirements of standard specifications, with values of peak temperature in the range 57-72 degrees C and those of compressive strength between 114 and 135 MPa. Formulations containing at least 20 wt.% BaTiO3 or SrTiO3 had radiopacities equal to or greater than that corresponding to 2 mm of Al as required for surgical plastics. Injectability of any of the formulations provided 75-80 wt.% of the total mass manually injected through a conventional biopsy needle 4 min after mixing. Silanation of the BaTiO3 or SrTiO3 particles led to formulations with improved mechanical properties and injectability compared to those obtained with the untreated fillers.     

The use of the Beck Depression Inventory to screen for depression in the general population: a preliminary analysis

OBJECTIVE: The aim of the present paper is to study the performance of Beck's Depression Inventory (BDI) as a screening instrument for depressive disorders in a general population sample. METHODS: 1250 subjects, from 18 to 64 years old, were randomly selected from the Santander (Spain) municipal census. A two-stage method was used: in the first stage, all individuals selected completed the BDI; in the second, 'probable cases' (BDI cut-off>/=13) and a random 5% sample of the total sample with a BDI score less than 13 were interviewed by psychiatrists using the Schedules for Clinical Assessment in Neuropsychiatry (SCAN), which generates diagnoses of depressive disorders. RESULTS: Our data confirm the predictive value of the selected cut-off point (12/13): 100% sensitivity, 99% specificity, 0. 72 PPV, 1 NPV, and 98% overall diagnostic value. The area under ROC (AUC) was found to be 0.99. There were no statistical differences in terms of sex or age. We conclude that the BDI is a good instrument for screening depressive disorders in community surveys.     

Docetaxel-induced Hand and Foot Syndrome in a Patient with Metastatic Breast Carcinoma

Hand and foot syndrome (HFS) is a well-known complication of chemotherapeutic drugs given in a dose-dense manner. Our patient was a 52-year-old female with metastatic breast carcinoma on salvage chemotherapy regimen with docetaxel at a dose of 60 mg/m². The patient had grade 3 HFS characterized by symmetrical, tender, and erythematous skin lesions over the palms and soles associated with dysesthesia necessitating interruption of treatment. She developed this syndrome at a much lower dose than previously described due to her altered hepatic function. An insight regarding this unique distressing side-effect and assessment of various contributing factors would help us identify and treat the patient at the earliest.