A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia.

In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial congenital hypotrichosis, missing and malformed teeth and a lack of eccrine sweat glands. Clinical signs including dental radiographs and histopathological findings were consistent with ectodermal dysplasia. Pedigree analysis supported an X-recessive mode of inheritance. Whole-genome sequencing of one affected puppy and his dam identified a 1-basepair deletion within the ectodysplasin-A (EDA) gene (CM000039.3:g.54509504delT, c.458delT). Sanger sequencing of further family members confirmed the EDA:c.458delT-variant. Validation in all available family members, 37 unrelated shorthaired standard Dachshunds, 128 further Dachshunds from all other coat and size varieties and samples from 34 dog breeds revealed the EDA:c.458delT-variant to be private for this family. Two heterozygous females showed very mild congenital hypotrichosis but normal dentition. Since the dam is demonstrably the only heterozygous animal in the ancestry of the affected animals, we assume that the EDA:c.458delT-variant arose in the germline of the granddam or in an early embryonic stage of the dam. In conclusion, we detected a very recent de-novo EDA mutation causing X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund.

Evaluation of hospital room assignment and acquisition of Clostridium difficile infection.

BACKGROUND AND OBJECTIVE: Clostridium difficile spores persist in hospital environments for an extended period. We evaluated whether admission to a room previously occupied by a patient with C. difficile infection (CDI) increased the risk of acquiring CDI. DESIGN: Retrospective cohort study. SETTING: Medical intensive care unit (ICU) at a tertiary care hospital. METHODS: Patients admitted from January 1, 2005, through June 30, 2006, were evaluated for a diagnosis of CDI 48 hours after ICU admission and within 30 days after ICU discharge. Medical, ICU, and pharmacy records were reviewed for other CDI risk factors. Admitted patients who did develop CDI were compared with admitted patients who did not. RESULTS: Among 1,844 patients admitted to the ICU, 134 CDI cases were identified. After exclusions, 1,770 admitted patients remained for analysis. Of the patients who acquired CDI after admission to the ICU, 4.6% had a prior occupant without CDI, whereas 11.0% had a prior occupant with CDI (P = .002). The effect of room on CDI acquisition remained a significant risk factor (P = .008) when Kaplan-Meier curves were used. The prior occupant's CDI status remained significant (p = .01; hazard ratio, 2.35) when controlling for the current patient's age, Acute Physiology and Chronic Health Evaluation III score, exposure to proton pump inhibitors, and antibiotic use. CONCLUSIONS: A prior room occupant with CDI is a significant risk factor for CDI acquisition, independent of established CDI risk factors. These findings have implications for room placement and hospital design.

A polyurethane cuffed endotracheal tube is associated with decreased rates of ventilator-associated pneumonia.

PURPOSE: The aim of this study was to determine whether the use of a polyurethane-cuffed endotracheal tube would result in a decrease in ventilator-associated pneumonia rate. MATERIALS AND METHODS: We replaced conventional endotracheal tube with a polyurethane-cuff endotracheal tube (Microcuff, Kimberly-Clark Corporation, Rosewell, Ga) in all adult mechanically ventilated patients throughout our large academic hospital from July 2007 to June 2008. We retrospectively compared the rates of ventilator-associated pneumonia before, during, and after the intervention year by interrupted time-series analysis. RESULTS: Ventilator-associated pneumonia rates decreased from 5.3 per 1000 ventilator days before the use of the polyurethane-cuffed endotracheal tube to 2.8 per 1000 ventilator days during the intervention year (P = .0138). During the first 3 months after return to conventional tubes, the rate of ventilator-associated pneumonia was 3.5/1000 ventilator days. Use of the polyurethane-cuffed endotracheal tube was associated with an incidence risk ratio of ventilator-associated pneumonia of 0.572 (95% confidence interval, 0.340-0.963). In statistical regression analysis controlling for other possible alterations in the hospital environment, as measured by rate of tracheostomy-ventilator-associated pneumonia, the incidence risk ratio of ventilator-associated pneumonia in patients intubated with polyurethane-cuffed endotracheal tube was 0.565 (P = .032; 95% confidence interval, 0.335-0.953). CONCLUSIONS: Use of a polyurethane-cuffed endotracheal tube was associated with a significant decrease in the rate of ventilator-associated pneumonia in our study.

Analysis of central line-associated bloodstream infections in the intensive care unit after implementation of central line bundles.

Central line-associated bloodstream infections (CLABSIs) have been reduced in number but not eliminated in our intensive care units with use of central line bundles. We performed an analysis of remaining CLABSIs. Many bloodstream infections that met the definition of CLABSI had sources other than central lines or represented contaminated blood samples.

Concomitant Disorders in School-Age Children Who Stutter.

PURPOSE: The purposes of this survey study were to (a) determine the number of children who stutter with verified concomitant phonological and language disorders, (b) determine the number of children who stutter with suspected concomitant phonological and language disorders, and (c) determine the type of treatment clinicians use with these children. METHOD: A systematic sampling plan was used to obtain survey responses from 241 American Speech-Language-Hearing Association (ASHA)-certified, school-based speech-language pathologists from 10 states that were considered to have similar state verification criteria for fluency, articulation/phonology, and language disorders. Respondents were asked to provide information concerning verified and suspected concomitant disorders in children who stutter. They also were asked to select one of four types of intervention approaches suggested by Bernstein Ratner (1995) in treating concomitant disorders in stuttering (i.e., blended, cyclic, sequential, and concurrent). RESULTS: The speech-language pathologists reported on 467 children who stuttered. Of that total, 262 (56%) children had a fluency disorder only and 205 (44%) had a verified concomitant phonological and/or language disorder. A subgroup of children with verified fluency-only disorders were suspected of having a concomitant disorder. When treating a fluency and a concomitant phonological and/or language disorder, the majority of clinicians used a blended approach. CLINICAL IMPLICATIONS: Using similar state verification guidelines, this survey showed that a large percentage of preschool through high school students possessed a verified fluency disorder and a phonological and/or language disorder. Thus, clinicians need to be aware of the strong possibility that school-age children who stutter might have a phonological disorder and/or a language disorder. Additionally, because the majority of respondents used a blended treatment approach when treating children with a fluency and a verified concomitant phonological and/or language disorder, it appears that many school-based clinicians believe it is best to address both problems simultaneously.