App-based assessment of patient-reported outcomes in the Molecular Tumor Board in the Center for Personalized Medicine-(TRACE).

Background: Biomarker-based therapies are increasingly used in cancer patients outside clinical trials. Systematic assessment of patient-reported outcomes (PRO) is warranted to take patients' perspectives during biomarker-based therapies into consideration. We assessed the feasibility of an electronic PRO assessment via a smartphone application.

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.

Introduction: Mutational screening of inherited retinal disorders is prerequisite for gene targeted therapy. Our aim was to report and analyze the proportions of mutations in inherited retinal disease (IRD)-causing genes from a single center in Switzerland in order to describe the distribution of IRDs in Western Switzerland.

Methods: We conducted a retrospective study of patient records.

Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.

High-Resolution Optical Coherence Tomography in Healthy Individuals Provides Resolution at the Cellular and Subcellular Levels.

Purpose: To assess the clinical resolution capacities of a novel high-resolution optical coherence tomography (High-Res OCT).

Methods: Eight healthy volunteers were included in this observational study. Using the SPECTRALIS High-Res OCT device (Heidelberg Engineering, Heidelberg) macular b-scans were taken and compared with b-scans acquired with a SPECTRALIS HRA+OCT device (Heidelberg Engineering, Heidelberg).

Endothelial Toll-like receptor 4 is required for microglia activation in the murine retina after systemic lipopolysaccharide exposure.

Background: Clustering of microglia around the vasculature has been reported in the retina and the brain after systemic administration of lipopolysaccharides (LPS) in mice. LPS acts via activation of Toll-like receptor 4 (TRL4), which is expressed in several cell types including microglia, monocytes and vascular endothelial cells. The purpose of this study was to investigate the effect of systemic LPS in the pigmented mouse retina and the involvement of endothelial TLR4 in LPS-induced retinal microglia activation.

Systemic Lipopolysaccharide Exposure Exacerbates Choroidal Neovascularization in Mice.

This study aims to investigate the effect of a systemic lipopolysaccharide (LPS) stimulus in the course of laser-induced choroidal neovascularization (CNV) in C57BL/6 J mice. A group of CNV-subjected mice received 1 mg/kg LPS via the tail vein immediately after CNV induction. Mouse eyes were monitored with fluorescein angiography for 2 weeks.

Demographic Risk Factors for Malnutrition in Patients With Cleft Lip and Palate.

Objectives/hypothesis: Patients with cleft lip and/or palate (CLP) are at increased risk of malnutrition. Acute and chronic malnutrition have been associated with elevated risk of postsurgical wound complications, adding morbidity and cost to patients and their families. To study the association between demographic factors, including insurance type, race, and median neighborhood income (MNI), and malnutrition in patients with CLP.

In vivo analysis of onset and progression of retinal degeneration in the Nr2e3 mouse model of enhanced S-cone sensitivity syndrome.

The photoreceptor-specific nuclear receptor Nr2e3 is not expressed in Nr2e3 mice, a mouse model of the recessively inherited retinal degeneration enhanced S-cone sensitivity syndrome (ESCS). We characterized in detail C57BL/6J Nr2e3 mice in vivo by fundus photography, optical coherence tomography and fluorescein angiography and, post mortem, by histology and immunohistochemistry. White retinal spots and so-called 'rosettes' first appear at postnatal day (P) 12 in the dorsal retina and reach maximal expansion at P21.

c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.

Purpose: The purpose of this study was to investigate the clinical and genetic features of a man and his daughter with posterior polymorphous corneal dystrophy (PPCD), referred to our clinic for Descemet membrane endothelial keratoplasty. No other known relatives were affected.

Methods: Ophthalmic examination and histology, including electron microscopy, were performed.

Malnutrition as a Risk Factor in Cleft Lip and Palate Surgery.

Objectives/hypothesis: To assess the prevalence of acute and chronic malnutrition at the time of surgery in patients with cleft lip and/or palate (CLP) at our institution, and to quantify nutrition as a risk factor for postsurgical complications following CLP surgery.

Study Design: Retrospective cohort study.

Methods: Retrospective review of 855 children undergoing initial cleft lip or palate surgery, or revision surgery after fistula/dehiscence of initial cleft repair.

Effects of PPAR-γ agonists on oral cancer cell lines: Potential horizons for chemopreventives and adjunctive therapies.

Background: Peroxisome proliferator-activated receptor-gamma (PPAR-γ) activators have anti-cancer effects. Our objective was to determine the effect of PPAR-γ ligands 15-deoxy-D -Prostaglandin J (15-PGJ ) and ciglitazone on proliferation, apoptosis, and NF-κB in human oral squamous cell carcinoma cell lines.

Methods: NA and CA9-22 cells were treated in vitro with 15-PGJ and ciglitazone.

Laryngeal Squamous Cell Carcinoma with Osteosarcomatous Differentiation and Involvement of Thyroid Cartilage Mimicking Sarcoma Arising from Thyroid Cartilage.

Basaloid squamous cell carcinoma (BSCC) with a spindle cell component of the head and neck is an uncommon entity. In this case, we present a radiology-pathology correlation of a rare laryngeal BSCC with sarcomatous transformation and osteosarcomatous differentiation involving the laryngeal cartilage, which thus mimicked clinically and radiographically osteosarcoma or chondrosarcoma with calcification. Microscopic examination revealed predominantly BSCC with extensive osseous metaplasia among sheets and nests of basaloid tumor cells.

Fluorescence Lifetime Patterns of Retinal Pigment Epithelium Atrophy in Patients with Stargardt Disease and Age-Related Macular Degeneration.

Purpose: To investigate whether autofluorescence lifetime patterns within retinal pigment epithelium (RPE) atrophy differ between age-related macular degeneration (AMD) and Stargardt disease (STGD).

Methods: Mean retinal autofluorescence lifetimes were measured in a short and a long spectral channel (SSC: 498-560 nm; LSC: 560-720 nm). Mean retinal fluorescence lifetimes were analyzed with corresponding clinical features, fundus images, fundus autofluorescence intensity images, and optical coherence tomography.

Minimizing transfusion in sagittal craniosynostosis surgery: the Children's Hospital of Minnesota Protocol.

Purpose: To assess the success of a protocol using preoperative erythropoietin (EPO) and iron with perioperative tranexamic acid (TXA) in reducing blood transfusion in sagittal craniosynostosis surgery.

Methods: A retrospective chart review of all sagittal craniosynostosis patients undergoing open repair at our institution since 2010 was conducted. A novel protocol of preoperative EPO with iron and perioperative TXA, along with a shift away from automatic transfusion, was initiated in 2014.