Impulse noised outliers are data points that differ significantly from other observations. They are generally removed from the data set through local regression or the Kalman filter algorithm. However, these methods, or their generalizations, are not well suited when the number of outliers is of the same order as the number of low-noise data (often called ).
View Article and Find Full Text PDFUnlabelled: The TGFβ signaling mediator SMAD4 is frequently mutated or deleted in colorectal and pancreatic cancers. SMAD4 acts as a tumor suppressor and its loss is associated with poorer patient outcomes. The purpose of this study was to find synthetic lethal interactions with SMAD4 deficiency to find novel therapeutic strategies for the treatment of patients with SMAD4-deficient colorectal or pancreatic cancers.
View Article and Find Full Text PDFAmong the different compounds present in the must, nitrogen is an essential nutrient for the management of fermentation kinetics, also playing a major role in the synthesis of fermentative aromas. Fermentation temperature is yet another variable that affects fermentation duration and the production of fermentative aromas in wine. The main objective of this study was thus to evaluate the combined effects of nitrogen addition-at the start of the fermentation process or during the stationary phase-at different fermentation temperatures on both fermentation kinetics and aroma synthesis kinetics.
View Article and Find Full Text PDFOccupational sun exposure is a well-known risk factor for the development of melanoma and nonmelanoma skin cancer (NMSC), especially among US military personnel who may have inadequate access to sun protection, are located in geographic regions with increased sun exposure, and work with potential carcinogens. Herein, we describe a case of a military service member who developed skin cancer at an early age potentially due to occupational sun exposure. We also provide a review of the literature to examine the risk factors and incidence of melanoma and NMSC in US military personnel and veterans, as well as provide recommendations for skin cancer prevention, screening, and intervention in the military population.
View Article and Find Full Text PDFThe IL-17A inhibitor secukinumab is efficacious for the treatment of psoriasis. To better understand its mechanism of action, we investigated its impact on psoriatic lesions from 15 patients with moderate-to-severe plaque psoriasis undergoing secukinumab treatment. We characterized the longitudinal transcriptomic changes of whole lesional skin tissue as well as cutaneous CD4 and CD8 T effector cells and CD4 T regulatory cells across 12 weeks of treatment.
View Article and Find Full Text PDFAn 11-year-old female presented with multiple oral lesions for several months. Histopathological findings suggested focal epithelial hyperplasia (FEH), also known as Heck disease. FEH is strongly associated with Human papillomavirus (HPV), especially genotypes 13 and 32.
View Article and Find Full Text PDFDimethyl sulfide (DMS) is a sulfur containing volatile that enhances general fruity aroma and imparts aromatic notes in wine. The most important precursor of DMS is S-methylmethionine (SMM), which is synthesized by grapes and can be metabolized by the yeast S. cerevisiae during wine fermentation.
View Article and Find Full Text PDFAmong the different compounds present in the must, nitrogen is an essential nutrient for the management of fermentation kinetics but also plays an important role in the synthesis of fermentative aromas. To address the problems related to nitrogen deficiencies, nitrogen additions during alcoholic fermentation have been implemented. The consequences of such additions on the main reaction are well known.
View Article and Find Full Text PDFImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare genetic disorder that typically presents in the first year of life with severe diarrhea, autoimmune endocrine disorder, and inflammatory dermatitis, most commonly an eczematous dermatitis. IPEX syndrome is caused by variants in the FOXP3 gene leading to dysregulation of T-regulatory (Treg) cells and an aberrant immune response. Here, we present a case of severe IPEX syndrome diagnosed following whole genome sequencing (WGS) in a 2-week-old boy with bloody mucoid diarrhea, failure to thrive, and a diffuse eczematous dermatitis.
View Article and Find Full Text PDFIn Cognac, the musts are rich in grape solids and fermentations are usually run with turbidities ranging between 500 and 1500 NTU (nephelometric turbidity unit). These conditions, considered favourable for generating the desired organoleptic profiles of the final Eaux-de-vies, are unusual in winemaking, and, consequently, their impact on yeast metabolism is poorly understood. This study aims to better describe and understand the synthesis of fermentative aromas in such lipid-excess conditions, while integrating the effect of two other very important parameters: the initial concentration of assimilable nitrogen and the temperature of fermentation.
View Article and Find Full Text PDFBackground: Psoriasis is an inflammatory, IL-17-driven skin disease in which autoantigen-induced CD8 T cells have been identified as pathogenic drivers.
Objective: Our study focused on comprehensively characterizing the phenotypic variation of CD8 T cells in psoriatic lesions.
Methods: We used single-cell RNA sequencing to compare CD8 T-cell transcriptomic heterogeneity between psoriatic and healthy skin.
J Psoriasis Psoriatic Arthritis
April 2020
Background: Diagnosis of psoriatic arthritis (PsA) can be challenging, resulting in delays that contribute to irreversible joint damage, reduced quality of life, and increased mortality.
Objective: Use genetic markers to develop and evaluate a PsA genetic risk score (GRS) for its ability to discriminate between psoriasis (PsO) only and PsO with PsA among a psoriatic cohort with full genome-wide genotype data.
Methods: Genome-wide single-nucleotide polymorphism genotyping was performed on 724 psoriatic patients.
The yeast Saccharomyces cerevisiae is an attractive industrial microorganism for the production of foods and beverages as well as for various bulk and fine chemicals, such as biofuels or fragrances. Building blocks for these biosyntheses are intermediates of yeast central carbon metabolism (CCM), whose intracellular availability depends on balanced single reactions that form metabolic fluxes. Therefore, efficient product biosynthesis is influenced by the distribution of these fluxes.
View Article and Find Full Text PDFWine-related non-Saccharomyces yeasts are becoming more widely used in oenological practice for their ability to confer wine a more complex satisfying aroma, but their metabolism remains unknown. Our study explored the nitrogen utilisation profile of three popular non-Saccharomyces species, Torulaspora delbrueckii, Metschnikowia pulcherrima and Metschnikowia fructicola. The nitrogen source preferences to support growth and fermentation as well as the uptake order of different nitrogen sources during wine fermentation were investigated.
View Article and Find Full Text PDFOcular diseases associated with atopic dermatitis (AD) may be sight-threatening. A general understanding of the pathophysiology, diagnosis, and treatment of atopic eye disease may assist dermatologists in knowing when to refer to ophthalmology and in co-managing these diseases with ophthalmologists. Ocular diseases associated with AD include eyelid dermatitis, keratoconjunctivitis, keratoconus, cataract, and retinal detachment.
View Article and Find Full Text PDFTreatments used for managing atopic dermatitis (AD) may have adverse ocular effects that permanently affect vision. The objective of this review is to raise awareness among dermatologists regarding the potential ocular adverse effects of various AD therapies, including corticosteroids, calcineurin inhibitors, an interleukin-4 receptor α (IL-4Rα) antagonist, and phototherapy. Pertinent potential short- and long-term risks of these therapies include elevations in intraocular pressure from use of topical corticosteroids and conjunctivitis from use of dupilumab.
View Article and Find Full Text PDFNitrogen composition of the grape must has an impact on yeast growth and fermentation kinetics as well as on the organoleptic properties of the final product. In some technological processes, such as white wine/rosé winemaking, the yeast-assimilable nitrogen content is sometimes insufficient to cover yeast requirements, which can lead to slow or sluggish fermentations. Growth is nevertheless quickly restored upon relief from nutrient starvation, e.
View Article and Find Full Text PDFBased on case studies, we discuss the extent to which genome-wide association studies (GWAS) are affected by outlier plants, i.e. those deviating from the expected distribution on a multi-criteria basis.
View Article and Find Full Text PDFPrimary cutaneous blastomycosis is a rare infection, especially among children. We present the case of a 16-year-old immunocompetent adolescent boy with primary cutaneous blastomycosis arising after falling into a flowerbed in a region where the fungus is hyperendemic. Following treatment with itraconazole 200 mg 3 times daily for 3 days, followed by 200 mg 2 times daily for 6 months, the lesion healed with only residual dyschromia.
View Article and Find Full Text PDFIntroduction: Communication skills influence the quality of health care and patient experience; both may affect provider reimbursement. There are few opportunities available for practicing physicians to receive direct feedback on communication in patient encounters. The purpose of this simulation-based patient encounter workshop was for dermatologists to practice and obtain feedback on their communication skills.
View Article and Find Full Text PDFImportance: Pyoderma gangrenosum and necrotizing Sweet syndrome are diagnostically challenging variants of neutrophilic dermatosis that can clinically mimic the cutaneous and systemic features of necrotizing fasciitis. Improved characterization of these rare variants is needed, as improper diagnosis may lead to inappropriate or delayed treatment and the potential for morbidity.
Objective: To determine the characteristics of necrotizing neutrophilic dermatosis to improve diagnostic accuracy and distinguish from infection.
Atopic dermatitis (AD) is a bothersome and common skin disease affecting ∼10.7% of children in the United States. This skin condition significantly decreases quality of life in not only patients, but in their families as well.
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