Renal involvement in Waldenström's macroglobulinemia: case report and review of literature

Waldenström's macroglobulinemia (WM) is a rare lymphoid neoplasia, accounting for 2% of all hematological malignancies. Renal complications occur rather rarely compared to multiple myeloma. The most common renal manifestations are mild proteinuria and microhematuria. We describe a case of MW presenting with acute renal failure and NS. A 67-year-old man was referred to our hospital for sudden onset nephrotic syndrome. Electrophoresis revealed a monoclonal component in the gamma region, which was classified as an IgM k. During hospitalization, acute kidney injury developed, with creatinine up to 5 mg/dL, despite adequate hydration and alkalinization. A kidney biopsy was performed, showing minimal change disease (MCD) with interstitial and capsular lymphoid infiltrates of B-Lymphocytes CD20+. B-lymphocytes infiltration suggested the possibility of renal localization of lymphoproliferative disorder. So, bone marrow histology was performed, revealing lymphoplasmacytic lymphoma (WM). The patient was treated with bortezomib, desamethasone, and rituximab, with partial recovery of renal function (creatinine 1.5 mg/dL) and complete remission of proteinuria after 8-month follow-up. The remission of NS in our patient with rituximab seems to emphasize the pathogenetic role of B cells in MCD, although a coincident effect of immunosuppression on both the underlying renal disease and the hematologic disease cannot be excluded

Mirror mirror on the wall... an unobtrusive intelligent multisensory mirror for well-being status self-assessment and visualization

A person’s well-being status is reflected by their face through a combination of facial expressions and physical signs. The SEMEOTICONS project translates the semeiotic code of the human face into measurements and computational descriptors that are automatically extracted from images, videos and 3D scans of the face. SEMEOTICONS developed a multisensory platform in the form of a smart mirror to identify signs related to cardio-metabolic risk. The aim was to enable users to self-monitor their well-being status over time and guide them to improve their lifestyle. Significant scientific and technological challenges have been addressed to build the multisensory mirror, from touchless data acquisition, to real-time processing and integration of multimodal data

Wize Mirror - a smart, multisensory cardio-metabolic risk monitoring system

In the recent years personal health monitoring systems have been gaining popularity, both as a result of the pull from the general population, keen to improve well-being and early detection of possibly serious health conditions and the push from the industry eager to translate the current significant progress in computer vision and machine learning into commercial products. One of such systems is the Wize Mirror, built as a result of the FP7 funded SEMEOTICONS (SEMEiotic Oriented Technology for Individuals CardiOmetabolic risk self-assessmeNt and Self-monitoring) project. The project aims to translate the semeiotic code of the human face into computational descriptors and measures, automatically extracted from videos, multispectral images, and 3D scans of the face. The multisensory platform, being developed as the result of that project, in the form of a smart mirror, looks for signs related to cardio-metabolic risks. The goal is to enable users to self-monitor their well-being status over time and improve their life-style via tailored user guidance. This paper is focused on the description of the part of that system, utilising computer vision and machine learning techniques to perform 3D morphological analysis of the face and recognition of psycho-somatic status both linked with cardio-metabolic risks. The paper describes the concepts, methods and the developed implementations as well as reports on the results obtained on both real and synthetic datasets

Blocking glomerular immunoglobulin deposits in a mouse model of lupus nephritis on indirect immunofluorescence with the use of Fab fragments

One of the most characterized models of murine lupus nephritis is the [NZB x NZW] F1 female hybrid. Extended glomerular IgG deposits may pose an obstacle in studying molecules of interest via indirect immunofluorescence due to secondary antibodies non-specific binding to deposited IgG molecules. Application of Fab fragments may mitigate non-specific interactions in this mouse model. Specifically we provide evidence that blocking paratopic interactions of secondary antibodies with indigenous glomerular IgG deposits is possible. However the blocking effect seems to be related to the species used for secondary antibody production. Increased secondary antibody host species homology with the mouse could make blocking of non-specific binding via the use of Fab fragments impossible in this mouse model. (c) 2011 Elsevier B.V. All rights reserved

Human TTRV30M localization within podocytes in a transgenic mouse model of transthyretin related amyloidosis: does the environment play a role?

Transthyretin related amyloidosis is a nosological entity that leads to disability, diminished quality of life, all stages of chronic kidney disease and eventually death. Podocytes are polarized, highly differentiated epithelial cells important for proper nephron function. In the present study we investigated whether deposited TTRVal30Met (TTRV30M) molecules could be localized within podocytes in situ under the effect of different housing conditions (i.e. specific pathogen free [SPF] vs. non-SPF). Murine renal glomeruli from human TTRV30M (hTTRV30M) transgenic mice were examined via direct and indirect immunofluorescence techniques for the presence of hTTRV30M, murine serum amyloid P, activated caspase-3 and NPHS1. Association strength and amount of colocalization for NPHS1-hTTRV30M, NPHS1-activated caspase-3, hTTRV30M-murine serum amyloid P were estimated. Localization of hTTRV30M in podocytes was demonstrated by immuno-electron microscopy. Renal hTTRV30M gene and NPHS1 gene expression levels were estimated. Non-SPF transgenic mice showed increased glomerular hTTRV30M deposition compared to their SPF counterparts. Furthermore increased podocytic localization of hTTRV30M was noticed in non-SPF mice. Glomerular caspase-3 activation was increased only in the non SPF housing conditions. Podocytic caspase-3 activation was increased in SPF and in non-SPF transgenic mice when compared to non transgenic controls. Environmental conditions influence glomerular deposition and podocytic localization of hTTRV30M. In this context increased caspase-3 activation occurred

Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome

Background and objectives X-linked Alport syndrome (X-AS) is caused by mutations of the COL4A5 gene, which encodes for the collagen IV a5 chain (a5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of patients with X-AS. Design, setting, participants, & measurements The medical records of 22 patients with X-AS from 21 unrelated families collected between 1987 and 2009 were reviewed (median age at last follow-up, 19.9 years; range, 5.4-35.1 years); GBM expression of a1, a3, and a5(COLIV) chains was assessed by immunofluorescence microscopy. Results GBM distribution of the a5(COLIV) chain was diffuse in 1 and segmental or absent in 21 of the 22 patients; the expression of the a3(COLIV) chain was diffuse in 5 of 22 patients and segmental or absent in 17 of 22 patients. Patients with diffuse staining for the a3(COLIV) chain presented with proteinuria significantly later (median age, 16.9 versus 6.1 years; P=0.02) and reached an estimated GFR < 90 ml/min per 1.73 m2 at an older age (median age, 27.0 versus 14.9 years; P=0.01) compared with patients with segmental or absent staining. Two thirds of patients with abnormal a3(COLIV) expression by immunofluorescence studies had null or truncating COL4A5 mutations, as opposed to none of the 4 tested patients with diffuse a3(COLIV) chain glomerular distribution. © 2013 by the American Society of Nephrology

Hsf-1 affects podocyte markers NPHS1, NPHS2 and WT1 in a transgenic mouse model of TTRVal30Met-related amyloidosis

Introduction: Familial amyloid polyneuropathy is characterized by transthyretin (TTR) deposition in various tissues, including the kidneys. While deposition induces organ dysfunction, renal involvement in TTR-related amyloidosis could manifest from proteinuria to end-stage kidney failure. As proteinuria is considered result of glomerular filtration barrier injury we investigated whether TTR deposition affects either glomerular basement membrane (GBM) or podocytes. Materials and methods: Immunohistochemistry, immunoblot and gene expression studies for nephrin, podocin and WT1 were run on renal tissue from human-TTRV30M transgenic mice hemizygous or homozygous for heat shock factor one (Hsf-1). Transmission electron microscopy was used for evaluation of podocyte foot process width (PFW) and GBM thickness in Hsf-1 hemizygous mice with or without TTRV30M or amyloid deposition. Results: Glomeruli of hsf-1 hemizygous transgenic mice showed lower nephrin and podocin protein levels but an increased podocyte number when compared to Hsf-1 homozygous transgenic mice. Nephrin, podocin and WT1 gene expression levels were unaffected by the Hsf-1 carrier status. TTRV30M deposition was associated with increased PFW and GBM thickness. Conclusions: Under the effect of Hsf-1 hemizygosity, TTRV30M deposition has deleterious effects on GBM thickness, PFW and slit diaphragm composition, without affecting nephrin and podocin gene expression

Characterization of evoked and induced activity in EEG and assessment of intertrial variability

Summarization: Brain response to an internal or external event, is composed by the superposition of evoked and induced oscillatory activity, which reflect different brain mechanisms involved. Identification of such activations could serve for diagnostic purposes and provide useful tools for brain computer interfaces through insight on the activation of different brain regions. In this paper we study several statistical measures that have been proposed for identifying the nature of the involved activations. All these measures are based on some mean of an appropriate signal attribute over trials in the time/ frequency domain and do not characterize the variability across trials. In order to quantify trial-to-trial variability we consider a measure based on entropy, characterizing the distribution of power across trials. The results indicate that brain activations can be characterized and differentiated by their behavior from trial to trial.Presented on

Prognostic Value of glomerular collagen IV immunofluorescence studies in male patients with X-linked alport syndrome

Background and objectives X-linked Alport syndrome (X-AS) is caused by mutations of the COL4A5 gene, which encodes for the collagen IV a5 chain (a5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of patients with X-AS. Design, setting, participants, & measurements The medical records of 22 patients with X-AS from 21 unrelated families collected between 1987 and 2009 were reviewed (median age at last follow-up, 19.9 years; range, 5.4-35.1 years); GBM expression of a1, a3, and a5(COLIV) chains was assessed by immunofluorescence microscopy. Results GBM distribution of the a5(COLIV) chain was diffuse in 1 and segmental or absent in 21 of the 22 patients; the expression of the a3(COLIV) chain was diffuse in 5 of 22 patients and segmental or absent in 17 of 22 patients. Patients with diffuse staining for the a3(COLIV) chain presented with proteinuria significantly later (median age, 16.9 versus 6.1 years; P=0.02) and reached an estimated GFR < 90 ml/min per 1.73 m2 at an older age (median age, 27.0 versus 14.9 years; P=0.01) compared with patients with segmental or absent staining. Two thirds of patients with abnormal a3(COLIV) expression by immunofluorescence studies had null or truncating COL4A5 mutations, as opposed to none of the 4 tested patients with diffuse a3(COLIV) chain glomerular distribution. © 2013 by the American Society of Nephrology

Depression Assessment by Fusing High and Low Level Features from Audio, Video, and Text

International audienceDepression is a major cause of disability world-wide. The present paper reports on the results of our participation to the depression sub-challenge of the sixth Audio/Visual Emotion Challenge (AVEC 2016), which was designed to compare feature modalities ( audio, visual, interview transcript-based) in gender-based and gender-independent modes using a variety of classification algorithms. In our approach, both high and low level features were assessed in each modality. Audio features were extracted from the low-level descriptors provided by the challenge organizers. Several visual features were extracted and assessed including dynamic characteristics of facial elements (using Landmark Motion History Histograms and Landmark Motion Magnitude), global head motion, and eye blinks. These features were combined with statistically derived features from pre-extracted features ( emotions, action units, gaze, and pose). Both speech rate and word-level semantic content were also evaluated. Classification results are reported using four different classification schemes: i) gender-based models for each individual modality, ii) the feature fusion model, ii) the decision fusion model, and iv) the posterior probability classification model. Proposed approaches outperforming the reference classification accuracy include the one utilizing statistical descriptors of low-level audio features. This approach achieved f1-scores of 0.59 for identifying depressed and 0.87 for identifying notdepressed individuals on the development set and 0.52/0.81, respectively for the test set