Association between lung function decline and obstructive sleep apnoea: the ALEC study

Sleep and Breathing - To study changes in lung function among individuals with a risk of obstructive sleep apnoea (OSA), and if asthma affected this relationship. We used data from the European...     

Radiological patterns of secondary sclerosing cholangitis in patients after lung transplantation

Abdominal Radiology - The purpose of this study was to investigate the radiological patterns of secondary sclerosing cholangitis (SSC) following lung transplantation. Fifty-five patients underwent...     

Characterization of 22 polymorphic microsatellite markers for seven-band grouper Epinephelus septemfasciatus developed using a 454 pyrosequencing approach

Seven-band grouper, Epinephelus septemfasciatus, is of considerable economic value and a candidate species of aquaculture in Eastern Asia. It is necessary to monitor the stocks for the sustainable use and aquaculture of the species. Monitoring genetic variation among marine resources necessitates the development of genetic markers. Here, we report 22 polymorphic microsatellite markers with 2–16 alleles per locus. The mean observed and expected heterozygosity per locus was 0.53 and 0.57, respectively. Cross-amplification revealed variability in Epinephelus bruneus and Epinephelus akaara. The 22 markers developed can be a valuable tool for genetic conservation of this species.     

Cauda Equina Syndrome Associated with Dural Ectasia in Chronic Anlylosing Spondylitis

Cauda equina syndrome (CES) associated with dural ectasia is a rare neurologic complication in patients with longstanding ankylosing spondylitis (AS). We report a 68-year-old male with a 30-year history of AS who presented a typical symptom and signs of progressive CES, urinary incontinence and neuropathic pain of the lumbosacral radiculopathy. Computed tomography (CT) and magnetic resonance imaging (MRI) findings showed the unique appearances of dural ectasia, multiple dural diverticula, erosion of posterior element of the lumbar spine, tethering of the conus medullaris and adhesion of the lumbosacral nerve roots to the posterior aspect of the dural ectasia. Considering the progressive worsening of the clinical signs, detethering of the conus medullaris through resection of the filum terminale was performed through a limited laminectomy. However, the urinary incontinence did not improve and there was a partial relief of the neuropathic leg pain only. The possible pathogenetic mechanism of CES-AS and the dural ectasia in this patient with longstanding AS are discussed with a literature review.     

Oral pretreatment with recombinant human lactoferrin limits trauma-hemorrhagic shock–induced gut injury and the biological activity of mesenteric lymph

Background

Lactoferrin (LF) is a pleiotropic glycoprotein that is found in bodily secretions and is postulated to enhance the gastrointestinal barrier and promote mucosal immunity. Thus, the ability of talactoferrin, an oral recombinant form of human LF, to limit gut injury and the production of biologically active gut-derived products was tested using a rat model of trauma–hemorrhagic shock (T/HS).

Methods

Male rats were orally dosed with vehicle or talactoferrin (1000 mg/kg, every day) for 5 d before being subjected to T/HS or trauma–sham shock (T/SS). Subsequently, rats were subjected to a laparotomy (trauma) and hemorrhagic shock (mean arterial pressure, 30–35 mm Hg × 90 min) or to T/SS, followed by resuscitation with their shed blood. Before inducing shock, the mesenteric lymphatic duct was catheterized for collection of mesenteric lymph. Four hours after the end of the shock or sham-shock period, rats were sacrificed, a segment of the distal ileum was collected for morphologic analysis, and lymph samples were processed and frozen. Subsequently, lymph samples were tested in several pharmacodynamic assays, including endothelial cell permeability, neutrophil respiratory burst activity, and red blood cell (RBC) deformability. Total white blood cell counts in lymph samples were also quantified.

Results

Pretreatment with talactoferrin reduced the incidence of T/HS-induced morphologic injury of ileum to T/SS levels. Post-T/HS lymph from vehicle-treated rats increased endothelial monolayer permeability and neutrophil priming for an augmented respiratory burst, and induced loss of RBC deformability, compared with T/SS groups. Talactoferrin pretreatment significantly reduced the biological activity of T/HS lymph on respiratory burst activity and RBC deformability, but had no effect on the lymph cell count or endothelial cell permeability.

Conclusions

These results provide a proof of principle that prophylactic dosing of oral talactoferrin can potentially protect the gut in a T/HS model and limit the production of biologically active factors in rat gastrointestinal tissue subjected to ischemia-reperfusion–type injuries.     

Prenatal and Postnatal Serum PCB Concentrations and Cochlear Function in Children at 45 Months of Age

Background: Some experimental and human data suggest that exposure to polychlorinated biphenyls (PCBs) may induce ototoxicity, though results of previous epidemiologic studies are mixed and generally focus on either prenatal or postnatal PCB concentrations exclusively.Objectives: Our aim was to evaluate the association between pre- and postnatal PCB concentrations in relation to cochlear status, assessed by distortion product otoacoustic emissions (DPOAEs), and to further clarify the critical periods in development where cochlear status may be most susceptible to PCBs.Methods: A total of 351 children from a birth cohort in eastern Slovakia underwent otoacoustic testing at 45 months of age. Maternal pregnancy, cord, and child 6-, 16-, and 45-month blood samples were collected and analyzed for PCB concentrations. At 45 months of age, DPOAEs were assessed at 11 frequencies in both ears. Multivariate, generalized linear models were used to estimate the associations between PCB concentrations at different ages and DPOAEs, adjusting for potential confounders.Results: Maternal and cord PCB-153 concentrations were not associated with DPOAEs at 45 months. Higher postnatal PCB concentrations at 6-, 16-, and 45-months of age were associated with lower (poorer) DPOAE amplitudes. When all postnatal PCB exposures were considered as an area-under-the-curve metric, an increase in PCB-153 concentration from the 25th to the 75th percentile was associated with a 1.6-dB SPL (sound pressure level) decrease in DPOAE amplitude (95% CI: –2.6, –0.5; p = 0.003).Conclusions: In this study, postnatal rather than maternal or cord PCB concentrations were associated with poorer performance on otoacoustic tests at age 45 months.Citation: Jusko TA, Sisto R, Iosif AM, Moleti A, Wimmerová S, Lancz K, Tihányi J, Šovčíková E, Drobná B, Palkovičová L, Jurečková D, Thevenet-Morrison K, Verner MA, Sonneborn D, Hertz-Picciotto I, Trnovec T. 2014. Prenatal and postnatal serum PCB concentrations and cochlear function in children at 45 months of age. Environ Health Perspect 122:1246–1252; http://dx.doi.org/10.1289/ehp.1307473     

Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection

BackgroundAs next‐generation sequencing (NGS) technology matures, various amplicon‐based NGS tests for BRCA1/2 genotyping have been introduced. This study was designed to evaluate an NGS test using a newly released amplicon‐based panel, AmpliSeq for Illumina BRCA Panel (AmpliSeq panel), for detection of clinically significant BRCA variants, and to compare it to another amplicon‐based NGS test confirmed by Sanger sequencing.MethodsWe reviewed BRCA test results done by NGS using the TruSeq Custom Amplicon kit from patients suspected of hereditary breast/ovarian cancer syndrome (HBOC) in 2018. Of those, 96 residual samples with 100 clinically significant variants were included in this study using predefined criteria: 100 variants were distributed throughout the BRCA1 and BRCA2 genes. All target variants were confirmed by Sanger sequencing. Duplicate NGS testing of these samples was performed using the AmpliSeq panel, and the concordance of results from the two amplicon‐based NGS tests was assessed.ResultsNinety‐nine of 100 variants were detected in duplicate BRCA1/2 genotyping using the AmpliSeq panel (sensitivity, 99%; specificity, 100%). In the discordant case, one variant (BRCA1 c.3627dupA) was found only in repeat 1, but not in repeat 2. Automated nomenclature of all variants, except for two indel variants, was in consensus with Human Genome Variation Society nomenclature.ConclusionOur findings confirm that the analytic performance of the AmpliSeq panel is satisfactory, with high sensitivity and specificity.