Prenatal ultrasound diagnosis of Toriello–Carey syndrome

Toriello–Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello–Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello–Carey syndrome is feasible in the second trimester of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Split notochord syndrome variant: prenatal findings and neonatal management

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis of congenital gastric outlet obstruction

A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented.     

Fetal translocation between chromosomes 2, 18, and 21 resolved by fish

An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22-week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics.     

Evaluation of a healthcare safety climate measurement tool

Problem

Psychometrically validated measurement tools are needed to evaluate an organization's safety climate. In 2000, Gershon and colleagues published a new healthcare safety climate measurement tool to determine its relationship to safe work behavior (Gershon, R., Karkashian, C., Grosch, J., Murphy, L., Escamilla-Cejudo, A., Flanagan, P., et al. (2000). Hospital safety climate and its relationship with safe work practices and workplace exposure incidents. American Journal of Infection Control, 28, 211-21). The present study evaluated the psychometric properties of the Gershon tool when modified to address respiratory rather than bloodborne pathogen exposures.

Method

Medical practitioners, nurses, and nurse aides (n = 460) were surveyed using the modified Gershon tool. Data were analyzed by factor analysis and psychometric properties of the tool evaluated.

Results

Eight safety climate dimensions were extracted from 25 items (Cronbach's alpha range: 0.62 - 0.88). Factor extractions and psychometric properties were reasonably consistent with those of the Gershon tool.

Impact on Industry

The Gershon safety climate tool appears to have sufficient reliability and validity for use by healthcare decision makers as an indicator of employee perceptions of safety in their institution.     

Prevalence of the Crayfish Plague Pathogen Aphanomyces astaci in Invasive American Crayfishes in the Czech Republic

Abstract:  In Central Europe invasive North American crayfishes are carriers of the oomycete Aphanomyces astaci, which causes crayfish plague. This lethal disease currently represents one of the major threats to native European crayfishes. We used molecular methods—species-specific amplification and sequencing of the pathogen DNA—to investigate the prevalence of individuals latently infected with A. astaci in 28 populations of two invasive American crayfish species (6 of the signal crayfish [ Pacifastacus leniusculus ] and 22 of the spiny-cheek crayfish [ Orconectes limosus ]) in the Czech Republic. The pathogen occurred in 17 investigated populations. We recorded a high variation in positive reactions, ranging from 0% to 100%, in populations of O. limosus . In P. leniusculus, however, only one individual out of 124 tested positive for the pathogen. There was a clear relationship between the water body type and pathogen prevalence in O. limosus . Infection ratios in isolated standing waters were usually low, whereas in running waters, pathogen prevalence often exceeded 50%. Other evaluated characteristics of potential plague pathogen carriers (size, sex, and the presence of melanized spots in the cuticle) seemed to be unrelated to infection. Our data suggest that in contrast to other European countries, O. limosus seems to be the primary reservoir of crayfish plague in the Czech Republic. Although all populations of alien American crayfishes may be potential sources of infections and should be managed as such, knowledge on the prevalence of the plague pathogen at various localities may allow managers to focus conservation efforts on the most directly endangered populations of native crayfishes.