Results 31 to 40 of about 163,045 (300)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

RECURRING ECZEMA OF EXPOSED PARTS; HEAT ECZEMA, COLD ECZEMA [PDF]

British Journal of Dermatology, 1903
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openaire   +3 more sources

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Diagnosis, assessment and treatment of childhood eczema in primary care:cross-sectional study [PDF]

, 2017
Background: The majority of children with eczema in the UK are looked after in primary care yet we know little about their care in this setting. Aim: To compare the diagnosis, assessment, and treatment of eczema in primary care with published diagnostic ...
Garfield, Kirsty, Gaunt, Daisy M, Jacquet, Laureen, Ridd, Matthew   +3 more
core   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Characterizing local and systemic exposure to clobetasol propionate in healthy subjects and patients with atopic dermatitis

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims There is a potential risk of systemic side‐effects with the use of potent corticosteroids, such as clobetasol propionate (CP). This concern is of particular interest in paediatric patients. The aim of this study was to develop and verify a physiologically based pharmacokinetic (PBPK) model to describe the local and systemic exposure to CP
Janna K. Duong, Sven van Dijkman, Gary Ong, Alexandra Marta, Adriana Ceci, Ernesto Bonifazi, Oscar Della Pasqua   +6 more
wiley   +1 more source

Quantification of Palmar and Digital Epidermal Thickness and Sweat Duct Density

Clinical Anatomy, EarlyView.
ABSTRACT Palmar digital skin, with its high density of epidermal sweat glands and unique stratum corneum, derives its autonomic innervation from peripheral nerves. Understanding the changes to these structures could serve as objective proxy markers following peripheral nerve injury and interventions to promote regeneration.
Elizabeth Jones, Hanaa N. Mughal, Roxana Moscalu, Malachy Columb, Christopher Duff, Mark Dickinson, Adam J. Reid, Ralph N. A. Murphy   +7 more
wiley   +1 more source

Research Brief: working in partnership with parents to create inclusive environments for children, aged 0-3 years, with chronic health conditions: parents’ perspectives [PDF]

, 2013
This research brief reports on one aspect of the findings from a doctoral research study which explored how practitioners create inclusive environments for children with chronic health conditions.
Musgrave, Jackie
core  

Ambient particulate pollution and the world-wide prevalence of asthma, rhinoconjunctivitis and eczema in children: Phase One of the International Study of Asthma and Allergies in Childhood (ISAAC) [PDF]

, 2010
Objectives: To investigate the effect of ambient particulate matter on variation in childhood prevalence of asthma, rhinoconjunctivitis and eczema.
Anabwani, G., Anderson, H. R., Asher, M. I., Aït-Khaled, N., Beasley, R., Björkstén, B., Brunekreef, B., Burr, M. L., Clayton, T. O., Crane, J., Ellwood, P., Kapetanakis, V., Keil, U., Lai, C. K. W., Mallol, J., Martinez, F. C., Mitchell, E. A., Montefort, S., Mutius, Erika von, Pandey, K.D., Pearce, N., Robertson, C. F., Ruggles, R., Shah, J. R., Stewart, A. W., Strachan, D. P., Weiland, S. K., Williams, H. C.   +27 more
core   +1 more source

Ethnomedicinal Uses, Phytochemistry, Pharmacological Activities, and Toxicology of the Subfamily Gomphrenoideae (Amaranthaceae): A Comprehensive Review

Chemistry &Biodiversity, EarlyView.
ABSTRACT The subfamily Gomphrenoideae is composed of about 480 accepted species, many of which have been historically used as medicinal plants, reason why they have been studied in terms of chemical profile, biological activity, and safety. This review consolidates the advances in research on this subfamily over the past 47 years, emphasizing its ...
Dayanna Isabel Araque Gelves, Giulia Cristina de Andreoli Souza, Alvaro Jose Hernandez Tasco, Marcos José Salvador   +3 more
wiley   +1 more source