253 research outputs found
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
Evaluación y predicción de la reincidencia en agresores sexuales argentinos: el svr20
En este estudio se revisan tanto las teorías y conocimientos existentes sobre
etiología y factores de riesgo de agresión sexual, como algunas investigaciones
internacionales y españolas que sustentan estos conocimientos. Su principal objetivo es
la presentación de un nuevo instrumento de predicción en este campo denominado
SVR-20: Manual de valoración del riesgo de violencia sexual. Para su validación se ha
efectuado un primer estudio exploratorio sobre la capacidad predictiva del SVR-20 con
una muestra de 42 agresores sexuales argentinos que cumplen condena en dos
prisiones de Mendoza. Se realizó un estudio retrospectivo y la regresión logística
binaria y la curva ROC ofrecen resultados satisfactorios para considerarlo un buen
instrumento de discriminación entre reincidentes y no reincidentes. La conclusión
principal de este estudio es que el SVR-20 es un buen instrumento para predecir el
riesgo de reincidencia sexual.In this article, there is a review of theories and knowledge about the etiology and
risk factors of sex aggression, and also of international and Spanish research that
supports this theoretical foundation. The main goal of this study is to introduce an
instrument for risk assessment called SVR-20: Guide for sexual violence risk
assessment. In order to validate this instrument, an exploratory study about the
predictive accuracy of the SVR-20 has been carried out, using a sample of 42
incarcerated sex offenders from two Argentinian prisons. The main conclusion of this
study is that SVR-20 is a good instrument to predict the risk of sexual recidivis
Genetic aspects of Paget’s disease of bone
Paget’s disease of bone (PDB) is a metabolic bone disease
characterized by excessive bone resorption and formation
due to increased osteoclasts activity. PDB mostly runs
asymptomatically, although increased bone turnover can be
present and in approximately 30% of patients bone abnormalities,
such as bone pain and deformities, pathological fractures
and deafness may occur. The existence of familial aggregation
of PDB has been reported in numerous papers, describing
the occurrence of disease in successive generations. It
has been clearly established that PDB is genetically heterogeneous
with several loci able to confer an increased susceptibility
to develop this bone metabolic disorder. In particular,
the PDB3 locus in chromosome 5q35-qter hosts the sequestosome1/
p62 (SQSTM1/p62) gene whose mutations account for
most of the sporadic and familial forms of PDB reported in literature.
SQSTM1/p62 gene encodes the SQSTM1/p62 protein,
component of the NF-kB signaling pathway and mediating intracellular
signaling from IL-1/TNF toward NF-kB, crucial for
osteoclast differentiation and activity. A functional study suggests
that the S Q S T M 1 mutation may predispose to PDB affecting
the interaction between SQSTM1/p62 protein and a
hitherto unidentified protein(s) modulating the bone turnover,
but the underlying molecular mechanism need to be elucidated.
However, independently from the knowledge of the functional
aspects of S Q S T M 1 / p 6 2 mutation, the opportunity to
perform germline mutational analysis in PDB patients may be
helpful in detecting new genetic carriers in potentially familial
forms of PDB and in studying the co-segregation of such DNA
variants with the PDB phenotype. All together these studies
could open new possibilities in the prevention and therapy of
PDB and of other metabolic bone disorder
Luminescent silicon nanoparticles prepared by ultra short pulsed laser ablation in liquid for imaging applications
Heavy-metal-free semiconductor material like Silicon Nanoparticle (Si-NPs) is attracting scientists because of their diverse applications in biomedical field. In this work, pulsed laser ablation of silicon in aqueous solution is employed to generate Si-NPs in one step avoiding use of chemical precursors. Characterization by absorption, electron and photoluminescence analysis proves the generation of luminescent Si-NPs. The productivity rate of Si-NPs is investigated by Inductively Coupled Plasma Spectrometry. Furthermore, Si-NPs quantum yield and confocal microscopy studies corroborate the potential use of these biocompatible Si-NPs for imaging applications
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