Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life.

Background: Gitelman syndrome is a primary tubular disorder causing hypokalaemic metabolic alkalosis with hypocalciuria. Its prevalence is high in Gypsies, who harbour an identical mutation, intron 9 + 1 G>T, in the SLC12A3 gene.

Methods: To better define the Gitelman syndrome in Gypsies, the clinical and biochemical features of 34 Spanish paediatric Gypsy patients were analysed.

3D reconstruction of granulomas from transmitted light images implemented for long-time microscope applications.

Image analysis tools are essential to describe and quantify dynamic biological phenomena, such as early stages of granuloma formation. Granulomas are constituted of a collection of immune cells that contain pathogens, leading to their elimination. We presented here a new method to obtain granuloma 3D reconstruction from transmitted light images.

ICU nurses' experiences in providing terminal care.

At least 1 in 5 Americans die while using intensive care service-a number that is expected to increase as society ages. Many of these deaths involve withholding or withdrawing life-sustaining therapies. In these situations, the role of intensive care nurses shifts from providing aggressive care to end-of-life care.

Clinical utility of multiplanar reformation in pulmonary CT angiography.

Objective: The purpose of this study was to determine whether the view used, multiplanar or axial, for image interpretation at pulmonary CT angiography for suspected acute pulmonary embolism alters the diagnostic confidence, accuracy, and interpretation time of cardiothoracic radiology specialists and radiology residents.

Materials And Methods: Patients who underwent 50 consecutive pulmonary 64-MDCT angiographic examinations formed the study group (18 men, 32 women; mean age, 53 years; range, 19-93 years). Three blinded cardiothoracic faculty radiologists and three blinded radiology residents reviewed each case independently initially using only axial display mode and later using multiplanar reformation (MPR) in any x-, y-, or z-axis.

Giant Marseillevirus highlights the role of amoebae as a melting pot in emergence of chimeric microorganisms.

Giant viruses such as Mimivirus isolated from amoeba found in aquatic habitats show biological sophistication comparable to that of simple cellular life forms and seem to evolve by similar mechanisms, including extensive gene duplication and horizontal gene transfer (HGT), possibly in part through a viral parasite, the virophage. We report here the isolation of "Marseille" virus, a previously uncharacterized giant virus of amoeba. The virions of Marseillevirus encompass a 368-kb genome, a minimum of 49 proteins, and some messenger RNAs.

Development and preclinical evaluation of acellular collagen scaffolding and autologous artificial connective tissue in the regeneration of oral mucosa wounds.

This work assessed wound healing response in rabbit oral lesions grafted with autologous artificial connective tissue or acellular collagen scaffolds. Autologous artificial oral connective tissue (AACT) was produced using rabbit fibroblasts and collagen I scaffolds. Before implantation, AACT grafts were assayed to demonstrate the presence of fibroblasts and extracellular matrix components, as well as the expression of characteristic genes and secretion of chemokines, cytokines, and growth factors.

Anti-HLA antibodies posttransplantation in children: do we know what it means?

Objective: Anti-HLA antibodies posttransplantation are associated with the appearance of acute and chronic rejection. The goal of this study was to determine the association between the presence of anti-HLA antibodies posttransplantation in children and the clinical outcome.

Patients And Methods: We studied the presence and the level of class I and II anti-HLA antibodies by microbead technology (Luminex) in 32 children after kidney transplantation; 87% underwent a first transplantation.

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

Background: Mutations in the TRPC6 gene have been reported in six families with adult-onset (17-57 years) autosomal dominant focal segmental glomerulosclerosis (FSGS). Electrophysiology studies confirmed augmented calcium influx only in three of these six TRPC6 mutations. To date, the role of TRPC6 in childhood and adulthood non-familial forms is unknown.

Jagged1 is the pathological link between Wnt and Notch pathways in colorectal cancer.

Notch has been linked to beta-catenin-dependent tumorigenesis; however, the mechanisms leading to Notch activation and the contribution of the Notch pathway to colorectal cancer is not yet understood. By microarray analysis, we have identified a group of genes downstream of Wnt/beta-catenin (down-regulated when blocking Wnt/beta-catenin) that are directly regulated by Notch (repressed by gamma-secretase inhibitors and up-regulated by active Notch1 in the absence of beta-catenin signaling). We demonstrate that Notch is downstream of Wnt in colorectal cancer cells through beta-catenin-mediated transcriptional activation of the Notch-ligand Jagged1.

Diversifying Science: Underrepresented Student Experiences in Structured Research Programs.

Targeting four institutions with structured science research programs for undergraduates, this study focuses on how underrepresented students experience science. Several key themes emerged from focus group discussions: learning to become research scientists, experiences with the culture of science, and views on racial and social stigma. Participants spoke of essential factors for becoming a scientist, but their experiences also raised complex issues about the role of race and social stigma in scientific training.

Methamphetamine use among gay, bisexual and non-identified men-who-have-sex-with-men: an analysis of daily patterns.

This study sought to understand the patterns, methods of administration and contexts for methamphetamine use (MA) in a sample of racially diverse men who have sex with men (MSM). Inclusion into the study required participants to be classified as clinically dependent on MA, but indicate no other illicit substance use. Use was assessed using Timeline Followback for a period of 30 days.

CD146 and its soluble form regulate monocyte transendothelial migration.

Objectives: During inflammation, cell adhesion molecules are modulated or redistributed for leukocyte transmigration. Among molecules at the interendothelial junction, CD146 is involved in cell-cell cohesion and permeability, but its role in monocyte transmigration is unknown.

Methods And Results: TNF enhanced CD146 expression at the junction and apical membrane of human umbilical veins endothelial cells (HUVECs) through CD146 synthesis and intracellular store redistribution.

Are urodynamic studies really needed during bladder augmentation follow-up?

Objective: We assessed clinical and urodynamic outcomes, over a minimum 10-year follow-up period, of neuropathic bladder patients treated with a bladder augmentation (BA) to determine if periodic urodynamic studies are needed.

Material And Methods: Thirty-two patients with poorly compliant bladders underwent BA at a mean age of 11 years (2.5-18).

Statins limit Rickettsia conorii infection in cells.

Recent data suggest that statins may have a beneficial effect during sepsis. In this study, we tested the effect of lovastatin and pravastatin on the cellular culture of Rickettsia conorii using a quantitative plaque assay model associated with an original image analysis algorithm. Statins added at the time of infection did not modify plaque formation, whereas pre-incubation with statins for 48h resulted in a significant 30-68% plaque reduction, depending on the tested compounds and doses.

Enterocystoplasty in children with neuropathic bladders: long-term follow-up.

Objective: This study assesses clinical outcome, after at least 8 years, of augmentation done before or at puberty in neuropathic bladders.

Patients And Methods: A total of 29 children with neuropathic bladders who did not respond satisfactorily to clean intermittent catheterisation and anti-cholinergic therapy underwent enterocystoplasty at a mean age of 11.8 years (range 3-18).

RickA expression is not sufficient to promote actin-based motility of Rickettsia raoultii.

Background: Rickettsia raoultii is a novel Rickettsia species recently isolated from Dermacentor ticks and classified within the spotted fever group (SFG). The inability of R. raoultii to spread within L929 cells suggests that this bacterium is unable to polymerize host cell actin, a property exhibited by all SFG rickettsiae except R.

Determining the pharmacological activity of Physalis peruviana fruit juice on rabbit eyes and fibroblast primary cultures.

Purpose: The pharmacologic activity of compounds isolated from Physalis peruviana has been demonstrated. The use of this fruit juice for treating pterygium has been reported in Colombian traditional medicine. However, studies demonstrating the fruit juice's pharmacologic activity when used in this disease have not been published to date.

Impaired embryonic haematopoiesis yet normal arterial development in the absence of the Notch ligand Jagged1.

Specific deletion of Notch1 and RBPjkappa in the mouse results in abrogation of definitive haematopoiesis concomitant with the loss of arterial identity at embryonic stage. As prior arterial determination is likely to be required for the generation of embryonic haematopoiesis, it is difficult to establish the specific haematopoietic role of Notch in these mutants. By analysing different Notch-ligand-null embryos, we now show that Jagged1 is not required for the establishment of the arterial fate but it is required for the correct execution of the definitive haematopoietic programme, including expression of GATA2 in the dorsal aorta.

CT-guided biopsy of bone: a radiologist's perspective.

Objective: We present an overview of approaches for bone biopsy used to minimize potential tumor seeding of adjacent soft-tissue structures and compartments. We discuss a variety of approaches related to specific anatomic parts and review pertinent anatomy.

Conclusion: We provide important guidelines and key examples that will help readers perform percutaneous needle bone biopsy safely.

[Growing up with a bladder augmentation].

Introduction: This study assesses long-term outcome of patients with neuropatic bladders who underwent a bladder augmentation before puberty.

Patients And Methods: A total of 21 patients with low compliant neuropathic bladders who did not respond satisfactory to clean intermittent catheterization and/or anticholinergic therapy underwent bladder augmentation (mean age 8.3 yr, range; 2.

Barriers to intensive care unit nurses providing terminal care: an integrated literature review.

Traditional goals of critical care center on curative interventions for patients with acute illness. However, death is a common occurrence in critical care, which means a shift from curative care to comfort care. For a number of reasons, the transition in care is often not a smooth one.

Adult presentation of right lung agenesis and left pulmonary artery sling.

The combination of right lung agenesis and left pulmonary artery (LPA) sling is a rare entity that has been described only in the pediatric population. Cross-sectional imaging modalities such as magnetic resonance imaging (MRI) and computed tomography (CT) have an advantage over echocardiography and pulmonary angiography in demonstrating the anomalous left pulmonary artery, particularly in the presence of coexisting lung agenesis, as exemplified in this case. We report the first case of this rare entity in an adult.