Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution

Abstract: Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment. It may present involvement of subcutaneous or periskeletal soft tissue, or may develop as a visceral infiltration entity with poor prognosis. Very few radiological data about this inherited condition have been reported, due to the extreme rarity of disease. We herein present a case of two siblings, affected by different severity of the disease, with different clinical features. They were examined by whole-body MR (WBMR) in order to assess different lesions localization, to rule out any visceral involvement and any other associated anomalies and to define patients\ue2\u80\u99 management

Inflammatory mediators as biomarkers in brain disorders.

Neurodegenerative diseases such as Alzheimer, Parkinson, amyotrophic lateral sclerosis, and Huntington are incurable and debilitating conditions that result in progressive death of the neurons. The definite diagnosis of a neurodegenerative disorder is disadvantaged by the difficulty in obtaining biopsies and thereby to validate the clinical diagnosis with pathological results. Biomarkers are valuable indicators for detecting different phases of a disease such as prevention, early onset, treatment, progression, and monitoring the effect of pharmacological responses to a therapeutic intervention. Inflammation occurs in neurodegenerative diseases, and identification and validation of molecules involved in this process could be a strategy for finding new biomarkers. The ideal inflammatory biomarker needs to be easily measurable, must be reproducible, not subject to wide variation in the population, and unaffected by external factors. Our review summarizes the most important inflammation biomarkers currently available, whose specificity could be utilized for identifying and monitoring distinctive phases of different neurodegenerative diseases

Detection of liver metastases in cancer patients with geographic fatty infiltration of the liver: the added value of contrast-enhanced sonography

The aim of this study is to assess the role of contrast-enhanced ultrasonography (CEUS) in the detection of liver metastases in cancer patients with geographic liver fatty deposition on greyscale ultrasonography (US)

MR Imaging of Perianal Crohn Disease: The Role of Contrast-enhanced Sequences

The MR imaging protocol described by the authors includes contrast-enhanced T1-weighted imaging with fat saturation in all patients except those with poor renal function. Horsthuis et al demonstrated in 2009 the usefulness of contrast-enhanced MR imaging for determining disease activity. Contrast agent administration is also required in case of suspicion of neoplastic tissue complicating fistulas. The joint European Crohn\u2019s and Colitis Organisation\u2013European Society of Gastointestinal and Abdominal Radiology guidelines report that T2-weighted images and contrast-enhanced T1-weighted images are included in the MR imaging protocol for the evaluation of perianal CD. However, as we have demonstrated, an axial T2-weighted fast spinecho sequence with fat saturation, in particular the short inversion time inversion-recovery (STIR) sequence, is a valid alternative to postcontrast T1- weighted fat-saturated imaging, allowing the identification of the primary fistula and any secondary ramification

Metformin increases APP expression and processing via oxidative stress, mitochondrial dysfunction and NF-κB activation: Use of insulin to attenuate metformin's effect

Clinical and experimental biomedical studies have shown Type 2 diabetes mellitus (T2DM) to be a risk factor for the development of Alzheimer's disease (AD). This study demonstrates the effect of metformin, a therapeutic biguanide administered for T2DM therapy, on β-amyloid precursor protein (APP) metabolism in in vitro, ex vivo and in vivo models. Furthermore, the protective role of insulin against metformin is also demonstrated. In LAN5 neuroblastoma cells, metformin increases APP and presenilin levels, proteins involved in AD. Overexpression of APP and presenilin 1 (Pres 1) increases APP cleavage and intracellular accumulation of β-amyloid peptide (Aβ), which, in turn, promotes aggregation of Aβ. In the experimental conditions utilized the drug causes oxidative stress, mitochondrial damage, decrease of Hexokinase-II levels and cytochrome C release, all of which lead to cell death. Several changes in oxidative stress-related genes following metformin treatment were detected by PCR arrays specific for the oxidative stress pathway. These effects of metformin were found to be antagonized by the addition of insulin, which reduced Aβ levels, oxidative stress, mitochondrial dysfunction and cell death. Similarly, antioxidant molecules, such as ferulic acid and curcumin, are able to revert metformin's effect. Comparable results were obtained using peripheral blood mononuclear cells. Finally, the involvement of NF-κB transcription factor in regulating APP and Pres 1 expression was investigated. Upon metformin treatment, NF-κB is activated and translocates from the cytoplasm to the nucleus, where it induces increased APP and Pres 1 transcription. The use of Bay11-7085 inhibitor suppressed the effect of metformin on APP and Pres 1 expression

Ageing in the critical contact process: a Monte Carlo study

The long-time dynamics of the critical contact process which is brought suddenly out of an uncorrelated initial state undergoes ageing in close analogy with quenched magnetic systems. In particular, we show through Monte Carlo simulations in one and two dimensions and through mean-field theory that time-translation invariance is broken and that dynamical scaling holds. We find that the autocorrelation and autoresponse exponents lambda_{Gamma} and lambda_R are equal but, in contrast to systems relaxing to equilibrium, the ageing exponents a and b are distinct. A recent proposal to define a non-equilibrium temperature through the short-time limit of the fluctuation-dissipation ratio is therefore not applicable.Comment: 18 pages, 7 figures, Latex2e with IOP macros; final for

Insulin Resistance as Common Molecular Denominator Linking Obesity to Alzheimer's Disease

Alzheimer's disease (AD) is an aging-related multi-factorial disorder to which metabolic factors contribute at what has canonically been considered a centrally mediated process. Although the exact underlying mechanisms are still unknown, obesity is recognized as a risk factor for AD and the condition of insulin resistance seems to be the link between the two pathologies. Using mice with high fat diet (HFD) obesity we dissected the molecular mechanisms shared by the two disorders. Brains of HFD fed mice showed elevated levels of APP and Aβ40/Aβ42 together with BACE, GSK3β and Tau proteins involved in APP processing and Aβ accumulation. Immunofluorescence, Thioflavin T staining experiments, confirmed increased Aβ generation, deposition in insoluble fraction and plaques formation in both the hippocampus and the cerebral cortex of HFD mice. Presence of Aβ40/Aβ42 in the insoluble fraction was also shown by ELISA assay. Brain insulin resistance was demonstrated by reduced presence of insulin receptor (IRs) and defects in Akt-Foxo3a insulin signaling. We found reduced levels of phospho-Akt and increased levels of Foxo3a in the nuclei of neurons where proapototic genes were activated. Dysregulation of different genes related to insulin resistance, especially those involved in inflammation and adipocytokines synthesis were analyzed by Profiler PCR array. Further, HFD induced oxidative stress, mitochondrial dysfunction and dynamics as demonstrated by expression of biomarkers involved in these processes. Here, we provide evidence that obesity and AD markers besides insulin resistance are associated with inflammation, adipokine dyshomeostasis, oxidative stress and mitochondrial dysfunction, all mechanisms leading to neurodegeneration

Aging at Criticality in Model C Dynamics

We study the off-equilibrium two-point critical response and correlation functions for the relaxational dynamics with a coupling to a conserved density (Model C) of the O(N) vector model. They are determined in an \epsilon=4-d expansion for vanishing momentum. We briefly discuss their scaling behaviors and the associated scaling forms are determined up to first order in epsilon. The corresponding fluctuation-dissipation ratio has a non trivial large time limit in the aging regime and, up to one-loop order, it is the same as that of the Model A for the physically relevant case N=1. The comparison with predictions of local scale invariance is also discussed.Comment: 13 pages, 1 figur