Development and evaluation of the Communication over Language Barriers questionnaire (CoLB-q) in paediatric healthcare

Objective

To develop a valid and reliable questionnaire addressing the experiences of healthcare personnel of communicating over language barriers and using interpreters in paediatric healthcare.

A dystroglycan mutation (p.Cys667Phe) associated to muscle‐eye‐brain disease with multicystic leucodystrophy results in ER‐retention of the mutant protein

Dystroglycan (DG) is a cell adhesion complex composed by two subunits, the highly glycosylated α‐DG and the transmembrane β‐DG. In skeletal muscle, DG is involved in dystroglycanopathies, a group of heterogeneous muscular dystrophies characterized by a reduced glycosylation of α‐DG. The genes mutated in secondary dystroglycanopathies are involved in the synthesis of O‐mannosyl glycans and in the O‐mannosylation pathway of α‐DG. Mutations in the DG gene (DAG1), causing primary dystroglycanopathies, destabilize the α‐DG core protein influencing its binding to modifying enzymes. Recently, a homozygous mutation (p.Cys699Phe) hitting the β‐DG ectodomain has been identified in a patient affected by muscle‐eye‐brain disease with multicystic leucodystrophy, suggesting that other mechanisms than hypoglycosylation of α‐DG could be implicated in dystroglycanopathies. Herein, we have characterized the DG murine mutant counterpart by transfection in cellular systems and high‐resolution microscopy. We observed that the mutation alters the DG processing leading to retention of its uncleaved precursor in the endoplasmic reticulum. Accordingly, small‐angle X‐ray scattering data, corroborated by biochemical and biophysical experiments, revealed that the mutation provokes an alteration in the β‐DG ectodomain overall folding, resulting in disulfide‐associated oligomerization. Our data provide the first evidence of a novel intracellular mechanism, featuring an anomalous endoplasmic reticulum‐retention, underlying dystroglycanopathy.     

Coronavirus infection and hospitalizations for acute respiratory illness in young children

There is only limited knowledge on the burden of disease due to both new (HCoV‐NL63 and HKU‐1) and previously discovered coronaviruses (OC43 and 229E) in children. Respiratory specimens and clinical data were prospectively collected in an active, population‐based surveillance study over a 2‐year period from children aged <5 years hospitalized with acute respiratory symptoms or fever. These samples were retrospectively tested by real‐time RT‐PCR for HCoV‐NL63, HKU1, OC43, and 229E. Human coronaviruses (HCoVs) were identified in 2.2% of study children <2 years of age. Rates of HCoV‐associated hospitalization per 10,000 were 10.2 (95% CI 4.3, 17.6), 4.2 (95% CI 1.9, 6.9), and 0 (95% CI 0, 3.7) in children aged <6 months, 6–23 months, and 24–59 months, respectively. Coronaviruses were identified in a modest number of hospitalized children. J. Med. Virol. 81:853–856, 2009. © 2009 Wiley‐Liss, Inc.     

Our experience with diagnostics of congenital disorders of glycosylation

The aim of this study is to report our 3years experience with the screening of congenital disorders of glycosylation. A common isoelectric focusing method with immunofixation was used for analysis of serum transferrin and alpha1-antitrypsin, apart from several other procedures. A group of about 1000 individuals, both healthy controls and patients, mostly with signs of a metabolic disease were examined. Here we present an overview of (1) hypoglycosylation findings, (2) distribution of protein variants, (3) misguiding rare Tf variants found in our set, and (4) association of some phenotypes with various diseases.     

Vascular endothelial growth factor C is required for sprouting of the first lymphatic vessels from embryonic veins

Lymphatic vessels are essential for immune surveillance, tissue fluid homeostasis and fat absorption. Defects in lymphatic vessel formation or function cause lymphedema. Here we show that the vascular endothelial growth factor C (VEGF-C) is required for the initial steps in lymphatic development. In Vegfc-/- mice, endothelial cells commit to the lymphatic lineage but do not sprout to form lymph vessels. Sprouting was rescued by VEGF-C and VEGF-D but not by VEGF, indicating VEGF receptor 3 specificity. The lack of lymphatic vessels resulted in prenatal death due to fluid accumulation in tissues, and Vegfc+/- mice developed cutaneous lymphatic hypoplasia and lymphedema. Our results indicate that VEGF-C is the paracrine factor essential for lymphangiogenesis, and show that both Vegfc alleles are required for normal lymphatic development.