Modeling metastatic progression from cross-sectional cancer genomics data.

Motivation: Metastasis formation is a hallmark of cancer lethality. Yet, metastases are generally unobservable during their early stages of dissemination and spread to distant organs. Genomic datasets of matched primary tumors and metastases may offer insights into the underpinnings and the dynamics of metastasis formation.

[Coexistent septic arthritis and spondylodiscitis as important differential diagnosis in immunosuppressed patients].

Septic arthritis and spondylodiscitis, especially in immunocompromised patients, constitute a major differential diagnosis of joint or back pain. This results in the invasion of a joint or spinal disc and its adjacent vertebral body by a pathogen. In most cases this is manifested as unspecific symptoms, such as local joint or back pain, fever and malaise.

Cholinesterase Inhibition and Exposure to Organophosphate Esters in Aircraft Maintenance Workers.

Aircraft maintenance workers may be exposed to organophosphates in hydraulic fluid and engine oil. Previous research has indicated that inhalation may not be the primary exposure route. This study sought to measure dermal contact and inhalation in conjunction with cholinesterase inhibition and determine if Air Force Specialty Code serves as an exposure predictor.

Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome.

Background: The Lundehund is a highly specialized breed characterized by a unique flexibility of the joints and polydactyly in all four limbs. The extremely small population size and high inbreeding has promoted a high frequency of diseased dogs affected by the Lundehund syndrome (LS), a severe gastro-enteropathic disease.

Results: Comprehensive analysis of bead chip and whole-genome sequencing data for LS in the Lundehund resulted in a genome-wide association signal on CFA 34 and LS-specific runs of homozygosity (ROH) in this region.

Effective population size, extended linkage disequilibrium and signatures of selection in the rare dog breed lundehund.

The Lundehund is an old dog breed with remarkable anatomical features including polydactyly in all four limbs and extraordinary flexibility of the spine. We genotyped 28 Lundehund using the canine Illumina high density beadchip to estimate the effective population size (Ne) and inbreeding coefficients as well as to identify potential regions of positive selection. The decay of linkage disequilibrium was slow with r2 = 0.

Prevalence and formation of primary cataracts and persistent hyperplastic tunica vasculosa lentis in the German Pinscher population in Germany.

Objective: The objective of this study was to describe the prevalences of primary noncongenital cataracts (CAT) and persistent hyperplastic tunica vasculosa lentis (PHTVL) in the German Pinscher population in Germany and to analyze the mode of inheritance of CAT in this dog breed.

Animals Studied: All German Pinschers with a certified veterinary ophthalmological diagnosis and born between 1993 and 2010 were included in this study. Examinations were performed between 1997 and 2013 by certified veterinary ophthalmologists of the German panel of the European Eye Scheme for Diagnosis of Inherited Eye Diseases in Animals (DOK).

Identification of quantitative trait loci (QTL) for canine hip dysplasia and canine elbow dysplasia in Bernese mountain dogs.

A genome-wide association study for canine hip dysplasia (CHD) and canine elbow dysplasia (CED) using the Illumina canine high density bead chip had been performed for 174 Bernese mountain dogs. General and mixed linear model analysis identified two different regions with single nucleotide polymorphisms (SNPs) on dog chromosome (CFA) 14 significantly associated with CHD and a further significantly CHD-associated region on CFA37. For CED, four SNPs on CFA11 and 27 were significantly associated.

Sequential in-office vitreous aspirates demonstrate vitreous matrix metalloproteinase 9 levels correlate with the amount of subretinal fluid in eyes with wet age-related macular degeneration.

Purpose: To evaluate levels of 37 native pathway proteins of the vitreous proteome from a subset of wet age-related macular degeneration (AMD) patients with and without subretinal fluid (SRF).

Methods: A total of 62 consecutive samples were aspirated from 12 patients with AMD, six who had SRF at baseline, and six who did not have SRF at any point during the study. Vitreous levels of the 37 native pathway proteins were analyzed in these patients using reverse phase protein microarray technology.

Aqueous cytokine and growth factor levels do not reliably reflect those levels found in the vitreous.

Purpose: Recent studies have illuminated the vitreous proteome as a potentially important diagnostic tool that will predict disease progression and response to treatment, in eyes with retinal disease. Studies to date have demonstrated correlations of protein levels between vitreous and aqueous humor. Because these results are un-expected and analysis was only done on a few endpoints, the present study further analyzes the relationship between aqueous and vitreous by probing a wide array of proteins in patients with posterior segment diseases.

Ophthalmic injuries in patients with zygomaticomaxillary complex fractures requiring surgical repair.

Purpose: Injuries to the middle third of the face commonly destroy the integrity of the orbital skeleton, and are frequently complicated by injury to the eye, ranging between 2.7% and 90.6% in reported series.

A prospective study of in-office diagnostic vitreous sampling in patients with vitreoretinal pathology.

Purpose: To evaluate the safety and efficacy of in-office vitreous sampling (50-100 microL).

Methods: A prospective, consecutive case series of 578 diagnostic vitreous sample attempts performed between February 23, 2007 and September 31, 2008. A standardized technique of vitreous sampling followed by intravitreal injection of therapeutic medication was performed.