In-depth blood immune profiling of Good syndrome patients.

Introduction: Good syndrome (GS) is a rare adult-onset immunodeficiency first described in 1954. It is characterized by the coexistence of a thymoma and hypogammaglobulinemia, associated with an increased susceptibility to infections and autoimmunity. The classification and management of GS has been long hampered by the lack of data about the underlying immune alterations, a controversy existing on whether it is a unique diagnostic entity vs. a subtype of Common Variable Immune Deficiency (CVID). Methods: Here, we used high-sensitive flow cytometry to investigate the distribution of up to 70 different immune cell populations in blood of GS patients (n=9) compared to age-matched CVID patients (n=55) and healthy donors (n=61). Results: All 9 GS patients displayed reduced B-cell counts -down to undetectable levels (<0.1 cells/µL) in 8/9 cases-, together with decreased numbers of total CD4+ T-cells, NK-cells, neutrophils, and basophils vs. age-matched healthy donors. In contrast, they showed expanded TCRγδ+ T-cells (p ≤ 0.05). Except for a deeper B-cell defect, the pattern of immune cell alteration in blood was similar in GS and (age-matched) CVID patients. In depth analysis of CD4+ T-cells revealed significantly decreased blood counts of naïve, central memory (CM) and transitional memory (TM) TCD4+ cells and their functional compartments of T follicular helper (TFH), regulatory T cells (Tregs), T helper (Th)2, Th17, Th22, Th1/Th17 and Th1/Th2 cells. In addition, GS patients also showed decreased NK-cell, neutrophil, basophil, classical monocyte and of both CD1c+ and CD141+ myeloid dendritic cell counts in blood, in parallel to an expansion of total and terminal effector TCRγδ+ T-cells. Interestingly, those GS patients who developed hypogammaglobulinemia several years after the thymoma presented with an immunological and clinical phenotype which more closely resembled a combined immune humoral and cellular defect, with poorer response to immunoglobulin replacement therapy, as compared to those in whom the thymoma and hypogammaglobulinemia were simultaneously detected. Discussion: Our findings provide a more accurate definition of the immune cell defects of GS patients and contribute to a better discrimination among GS patients between those with a pure B-cell defect vs. those suffering from a combined immunodeficiency with important consequences on the diagnosis and management of the disease.

Magnetic resonance imaging features of canine intradural/extramedullary intervertebral disc extrusion in seven cases.

Intervertebral disc disease, including intervertebral disc extrusions and protrusions, is the most common spinal cord disorder in dogs. Atypical and uncommon intervertebral disc herniations include intradural/intramedullary disc extrusion, intervertebral foraminal disc extrusion and intervertebral disc herniation (Schmorl's node). Intradural/extramedullary disc extrusion is the least common type of intervertebral disc herniation in veterinary medicine, characterized by extruded disc material within the intradural space. To date, only one study has been published in veterinary medicine reporting intradural/extramedullary disc extrusions. In this study, low field MRI was used, and the authors could not find any MRI features to diagnose with confidence an intradural/extramedullary disc location of the extruded disc material. The aim of this study was to describe the high field (1.5T) MRI characteristics of surgically confirmed intradural/extramedullary disc extrusions. This is a retrospective, multicentric and descriptive study. Inclusion criteria was surgical confirmation of intradural/extramedullary disc extrusion by durotomy and complete MRI study of the spine. Seven cases were included. Images were reviewed by a radiology resident and a certified radiologist, with emphasis on the following signs: "Golf-tee sign" (widening of the subarachnoid space cranial and caudal to the lesion), "Beak sign" (pointed and sharp compressive lesion) and "Y sign" (division of the dura and arachnoid layers). MRI showed a "Y sign" in all the cases (7/7) seen from the T2-weighted sagittal views, while "Golf-tee sign" was not recognized in any of the cases (0/7). Additionally, "beak sign" was present in half of the cases (4/7). "Y sign" maybe a reliable MRI feature for identifying intradural/medullary disc extrusions from the MRI study. As the arachnoid is peeled from the dura by the disc herniation there is a splitting of the arachnoid mater and the ventral dura. The intradural disc material will be surrounded by CSF signal intensity margin, giving the appearance of a Y, which can be identified from the T2-weighted sagittal images.

Multiple intrahepatic pseudocysts in acute pancreatitis.

Liver pseudocysts are a very rare complication in acute pancreatitis with only a few cases previously described. The lack of experience and literature on this condition leads to difficulties in the differential diagnosis and management. We report herein a case of acute pancreatitis who developed multiple intrahepatic pseudocysts. After complete imaging evaluation, the diagnosis was still unclear and the patient was operated on. The presence of liver lesions in patients with acute pancreatitis should raise the possibility of intrahepatic pseudocysts.

Prospective Randomized Study Comparing a Single-Cuff Self-Locating Catheter with a Single-Cuff Straight Tenckhoff Catheter in Peritoneal Dialysis.

UNLABELLED: ♦ OBJECTIVES: Peritoneal dialysis (PD) catheters are critical to the success of the technique. However, few studies provide evidence about which design helps to reduce complications. Self-locating catheters (SLCs) are used to avoid displacement of the catheter tip. The incidence of mechanical and infectious complications and catheter survival rate were assessed in Tenckhoff PD catheters. ♦ DESIGN: The prospective randomized study compared drainage problems in 40 incident PD patients using a single-cuff SLCs and 38 patients using a single-cuff, straight Tenckhoff catheter (TC). ♦ RESULTS: No significant differences were observed in the number of complications in the Pre period (from the insertion of the catheter to the start of the technique); however, the number of complications was lower in the SLC group during Post (p = 0.021) and Total period (p = 0.048). The number of problems related to catheter malfunction for each period: Pre, Post, and Total, was significantly lower with SLCs vs TCs (p = 0.018, p = 0.001 and p = 0.003, respectively). Problems were solved more easily with SLCs, using laxatives, with less need for fluoroscopic placement and no need for surgical replacement, as opposed to the TC group: Pre (not significant), Post (p = 0.007), and Total (p = 0.011).Median survival was 39.6 months (30.9 - 48.3) for SLCs and 30.1 months (22.6 - 37.5) for TCs, which is not a significant difference. However, SLCs have a higher malposition-free survival rate. Multivariate logistic regression models only included the variable "type of catheter" as a predictor of malfunction during the Pre period (odds ratio [OR] = 4.154). The Post period included the variables, "type of catheter" (OR = 7.701) and "age" (OR = 1.047), and the Total period only included the variable "type of catheter" (OR = 4.487), which indicates an increased probability of malfunction with the use of TCs vs SLCs. The variables (gender, previous intra-abdominal surgery, body mass index (BMI) and diabetes mellitus) did not add predictive value to the models (p > 0.05). ♦ CONCLUSION: The study confirms the hypothesis that TCs have more malfunctions and a lower malposition-free survival rate than SLCs, and TCs are considered as the highest risk factor for malfunction during all study periods.

Asterias: a parallelized web-based suite for the analysis of expression and aCGH data.

The analysis of expression and CGH arrays plays a central role in the study of complex diseases, especially cancer, including finding markers for early diagnosis and prognosis, choosing an optimal therapy, or increasing our understanding of cancer development and metastasis. Asterias (http://www.asterias.info) is an integrated collection of freely-accessible web tools for the analysis of gene expression and aCGH data. Most of the tools use parallel computing (via MPI) and run on a server with 60 CPUs for computation; compared to a desktop or server-based but not parallelized application, parallelization provides speed ups of factors up to 50. Most of our applications allow the user to obtain additional information for user-selected genes (chromosomal location, PubMed ids, Gene Ontology terms, etc.) by using clickable links in tables and/or figures. Our tools include: normalization of expression and aCGH data (DNMAD); converting between different types of gene/clone and protein identifiers (IDconverter/IDClight); filtering and imputation (preP); finding differentially expressed genes related to patient class and survival data (Pomelo II); searching for models of class prediction (Tnasas); using random forests to search for minimal models for class prediction or for large subsets of genes with predictive capacity (GeneSrF); searching for molecular signatures and predictive genes with survival data (SignS); detecting regions of genomic DNA gain or loss (ADaCGH). The capability to send results between different applications, access to additional functional information, and parallelized computation make our suite unique and exploit features only available to web-based applications.