Clinical Medicine: Recent submissions
Now showing items 781-800 of 1003
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Childhood eczema and the importance of the physical environment.
(2013)In this issue, Simpson and colleagues report a large-scale ecological study that reminds us of the importance of physical environmental factors in the development of atopic dermatitis. The mechanisms through which these ... -
High-density genotyping study identifies four new susceptibility loci for atopic dermatitis.
(2013)Atopic dermatitis is a common inflammatory skin disease with a strong heritable component. Pathogenetic models consider keratinocyte differentiation defects and immune alterations as scaffolds, and recent data indicate a ... -
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
(2012)Palmoplantar keratodermas (PPKs) are a group of disorders that are diagnostically and therapeutically problematic in dermatogenetics. Punctate PPKs are characterized by circumscribed hyperkeratotic lesions on the palms and ... -
Old King Coal - molecular mechanisms underlying an ancient treatment for atopic eczema.
(2013)Traditional remedies for common disorders have been known for centuries, but insight into their mechanism of action is often limited. In this issue of the JCI, Joost Schalkwijk’s research group at the Radboud University ... -
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
(2013)The relative contribution of immunological dysregulation and impaired epithelial barrier function to allergic diseases is still a matter of debate. Here we describe a new syndrome featuring severe dermatitis, multiple ... -
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
(2013)Atopic dermatitis (AD) is the most common dermatological disease of childhood. Many children with AD have asthma and AD shares regions of genetic linkage with psoriasis, another chronic inflammatory skin disease. We present ... -
Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
(2015)Atopic dermatitis and psoriasis are the two most common immune-mediated inflammatory disorders affecting the skin. Genome-wide studies demonstrate a high degree of genetic overlap, but these diseases have mutually exclusive ... -
Skin barrier dysfunction measured by transepidermal water loss at 2 days and 2 months predates and predicts atopic dermatitis at 1 year.
(2015)Loss-of-function mutations in the skin barrier protein filaggrin (FLG) are a major risk for atopic dermatitis (AD). The pathogenic sequence of disturbances in skin barrier function before or during the early development ... -
Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis.
(2015)Loss-of-function (LOF) mutations in the filaggrin gene (FLG) are a well-replicated risk factor for atopic dermatitis (AD) and are known to cause an epidermal barrier defect. The nature of this barrier defect is not fully ... -
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
(2015)Background Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 gene (DSG1). To date, only 3 families have been ... -
Spontaneous atopic dermatitis is mediated by innate immunity, with the secondary lung inflammation of the atopic march requiring adaptive immunity.
(2015)Atopic dermatitis (AD) is an inflammatory skin condition that can occur in early life, predisposing to asthma development in a phenomenon known as the atopic march. Although genetic and environmental factors are known to ... -
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
(2015)Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole ... -
Crossing barriers; restoring barriers? Filaggrin protein replacement takes a bow.
(2014)In this issue of the Journal, Stout and colleagues report a novel and creative approach to replacement of genetically determined absence or deficiency of epidermal proteins. While these early data are certainly interesting, ... -
Efavirenz- but not nevirapine-based antiretroviral therapy decreases exposure to the levonorgestrel released from a sub-dermal contraceptive implant.
(2014)INTRODUCTION: Sub-dermal hormone implants, such as levonorgestrel (LNG), are a safe and desirable form of long-acting contraception, but their use among HIV-positive women on antiretroviral therapy (ART) may be compromised ... -
Breast cancer detection among Irish BRCA1 & BRCA2 mutation carriers: a population-based study
(2015)Aims We investigated the presentation and screening patterns of an Irish cohort of BRCA1/2 mutation carriers with breast cancer. Materials and methods BRCA1/2 mutation carriers with breast cancer were identified in ... -
Optimally tolerated dose of lapatinib in combinationwith docetaxel plus trastuzumab in first-line treatmentof HER2-positive metastatic breast cancer
(2013)Background: This phase IB, open-label, dose-escalation study evaluated the safety, tolerability, and optimally tolerated regimen (OTR) of lapatinib in combination with docetaxel and trastuzumab in patients with ... -
Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer
(2015)Background: Germline BRCA mutations are associated with worse prostate cancer (PCa) outcomes; however, the most appropriate management for mutation carriers has not yet been investigated. Objective: To evaluate the ...
