Clinical Medicine: Recent submissions
Now showing items 701-720 of 1003
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Executive functioning independently predicts self-rated health and improvement in self-rated health over time among community-dwelling older adults
(2016)Objectives: Self-rated health, as distinct from objective measures of health, is a clinically informative metric among older adults. The purpose of our study was to examine the cognitive and psychosocial factors associated ... -
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
(2015)Genetic association studies have identified 21 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify further susceptibility loci for this common, complex skin disease, ... -
siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy.
(2014)Purpose. The aim of this study is to further assess our previously reported keratin 12 (K12)-Leu132Pro specific siRNA in silencing the mutant allele in Meesmann's Epithelial Corneal Dystrophy (MECD) in experimental systems ... -
Skin barrier impairment at birth predicts food allergy at 2 years of age.
(2016)Background Transcutaneous exposure to food allergens can lead to food sensitisation (FS)/food allergy (FA). We measured skin barrier function in early infancy and related it to the later development of FS/FA at 2 ... -
Role of Notch signaling in regulating innate immunity and inflammation in health and disease
(2016)The Notch signaling pathway is conserved from Droso- phila to mammals and is critically involved in develop- mental processes. In the immune system, it has been established that Notch signaling regulates multiple steps ... -
Kaposi sarcoma in an patient with atopic dermatitis treated with ciclosporin.
(2013)There are four clinical subtypes of Kaposi sarcoma (KS): classic, endemic, epidemic and iatrogenic. The geographical prevalence of the endemic variant matches areas of human herpes virus type 8 (HHV8) seroprevalence. The ... -
Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity.
(2011)BACKGROUND: Filaggrin, coded by FLG, is the main source of several major components of natural moisturizing factor (NMF) in the stratum corneum (SC), including pyrrolidone carboxylic acid (PCA) and urocanic acid (UCA). ... -
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.
(2011)Poikiloderma with Neutropenia (PN), Clericuzio-Type (OMIM #604173) is characterized by poikiloderma, chronic neutropenia, recurrent sinopulmonary infections, bronchiectasis, and nail dystrophy. First described by Clericuzio ... -
Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.
(2011)Background IgE-mediated peanut allergy is a complex trait with strong heritability, but its genetic basis is currently unknown. Loss-of-function mutations within the filaggrin gene are associated with atopic dermatitis ... -
Propranolol in the treatment of infantile haemangiomas: Lessons from the European Propranolol In the Treatment of Complicated Haemangiomas (PITCH) Taskforce Survey.
(2015)BACKGROUND: Oral propranolol is widely prescribed as first line treatment for infantile haemangiomas (IHs) and anecdotally prescribing practice differs widely between centres. OBJECTIVES: The Propranolol In the ... -
Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk.
(2008)BACKGROUND: Polymorphisms in the serine protease inhibitor gene serine peptidase inhibitor Kazal type 5 (SPINK5) and the serine protease kallikrein-related peptidase 7 gene (KLK7) appear to confer risk to eczema in some ... -
Successful treatment of florid cutaneous warts with intravenous cidofovir in an 11-year-old girl.
(2008)Cutaneous warts, commonly seen in children and the immunosuppressed are socially distressing and are often resistant to traditional treatments. Here, we report an 11-year-old girl with bilateral florid verrucous lesions ... -
The multifunctional role of filaggrin in allergic skin disease.
(2013)Filaggrin is a major structural protein in the stratum corneum of the epidermis. Mutations in the filaggrin gene are the most significant known genetic risk factor for the development of atopic dermatitis. Mutations in the ... -
Ichthyosis prematurity syndrome: a case report and review of known mutations.
(2014)Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation ... -
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
(2015)Caspase recruitment family member 14 (CARD14, also known as CARMA2), is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Gain-of-function CARD14 mutations have been documented in familial ... -
Transcriptional regulator PRDM12 is essential for human pain perception.
(2015)Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which ...
