Environmental drivers of parasite load and species richness in introduced parakeets in an urban landscape

Parasitology Research - Introduced species represent a threat to native wildlife worldwide, due to predation, competition, and disease transmission. Concurrent introduction of parasites may also...     

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency

Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to identify the genetic pathogenesis of the “NKX2-1 triad” in a 10 year-old female presenting additional features barely described in the disorder. In the neonatal period, she presented with generalized hypotonia and respiratory distress, with later episodes of frequent wheezing. At 3?month-age developmental dysplasia of the hip was diagnosed and at 10?months, primary hypothyroidism was detected and treated. Subsequently, delayed achievement of developmental milestones and then subtle choreic movements of extremities were identified at 2?years of age. Furthermore, delayed teeth eruption and agenesis of some dental pieces, short stature and joint hyperlaxity were also noticed. At 10?years, a poor immune response to polysaccharide antigens and hypogammaglobulinemia, including all IgG subclasses were detected. Surprisingly, no mutations were identified in the complete coding region of NKX2-1 by PCR and Sanger sequencing. MLPA showed a de novo loss of gene dosage in all 3 probes located in NKX2-1 exons. A CGH-array identified a deletion of 3.32?Mb in chromosome 14q13.2-q21.1 containing 20 genes, including NKX2-1, PAX9 and two candidate genes (NFKB1A and PPP2R3C) involved in immune response. The Brain-Lung-Thyroid syndrome (OMIM#610978; ORPHA:209905) associated with other clinical phenotypes should suggest monoallelic deletions of chromosome 14 causing haploinsufficiency of NKX2-1, and other contiguous genes like PAX9 (hypodontia) or other dosage-sensitive genes in the chromosomal vicinity that emerge as candidates for hypogammaglobulinemia, mainly NFKBIA.     

The utility of intra‐operative three‐dimensional transoesophageal echocardiography for dynamic measurement of stroke volume

Measurement of left ventricular stroke volume and cardiac output is very important for managing haemodynamically unstable or critically ill patients. The aims of this study were to compare stroke volume measured by three‐dimensional transoesophageal echocardiography with stroke volume measured using a pulmonary artery catheter, and to examine the ability of three‐dimensional transoesophageal echocardiography to track stroke volume changes induced by haemodynamic interventions. This study included 40 cardiac surgery patients. Haemodynamic variables were measured before and 2 min after haemodynamic interventions, which consisted of phenylephrine 100 μg or ephedrine 5 mg. We used Bland–Altman analysis to assess the agreement between the stroke volume measured by three‐dimensional transoesophageal echocardiography and by the pulmonary artery catheter. Polar‐plot and 4‐quadrant plot analyses were used to assess the trending ability of three‐dimensional transoesophageal echocardiography compared with the pulmonary artery catheter. Bias and percentage error were ?1.2 ml and 20%, respectively. The concordance rate in the 4‐quadrant analysis after phenylephrine and ephedrine administration was 75% and 84%, respectively. In the polar‐plot analysis, the angular concordance rate was 66% and 73% after phenylephrine and ephedrine administration, respectively. Three‐dimensional transoesophageal echocardiography was clinically acceptable for measuring stroke volume; however, it was not sufficiently reliable for tracking stroke volume changes after haemodynamic interventions.