Biomedical subjects

Sinead Collins

Publications and source records attributed to Sinead Collins.

3 recordsLinked to original sources

PubMed2006

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.

OBJECTIVE: To determine the Irish prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), the AIRE mutations involved and clinical features of this population. METHODS: All patients were identified through paediatricians and endocrinologists in Ireland. Patients were invited to attend a multidisciplinary clinic. RESULTS: Thirty-one patients (2-56 years), 18 female, were identified from 19 families giving an Irish prevalence of 1:130,000. Twenty-six patients had hypoparathyroidism, 21 had adrenal insufficiency (AI) and 10 of 16 had ovarian failure. Three affected patients have died. Many with hypoparathyroidism were resistant to 1-alpha-vitamin D. Two needed daily PTH injections. Mineralocorticoid deficiency as the first manifestation of AI was common. Chronic intra-oral candidiasis affected 25 patients and three had leukoplakia. Two had keratoconjuntivitis. Of 22 with AIRE gene analysis, three different mutations were identified, one of which is novel. CONCLUSION: APECED is rare in Ireland. We saw a significant amount of non-endocrine disease but no ectodermal dystrophy. AIRE gene analysis reassured many siblings and identified individuals with APECED prior to any symptoms.

Adolescent↗

PubMed2005

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed closure of the fontanel, cranial defects, clavicular hypoplasia, anal and genitourinary malformations, and skin eruption. We have identified seven patients with this phenotype in four families from different geographic regions and ethnic backgrounds. This is an autosomal recessive condition that brings together apparently opposing pathophysiologic and developmental processes, including accelerated suture closure and delayed ossification. Selected candidate genes--including RUNX2, CBFB, MSX2, ALX4, TWIST1, and RECQL4--were screened for mutations, by direct sequencing of their coding regions, and for microdeletions, by fluorescent in situ hybridization. No mutations or microdeletions were detected in any of the genes analyzed. A genomewide screen yielded the maximum estimated LOD score of +2.38 for markers D22S283 and D22S274 on chromosome 22q12-q13. We hypothesize that the gene defect in this condition causes novel context-dependent dysregulation of multiple signaling pathways, including RUNX2, during osteoblast differentiation and craniofacial morphogenesis.

Abnormalities, Multiple↗

PubMed2002

Sunscreens: safety, efficacy and appropriate use.

Promoting sunscreen use is an integral part of prevention programmes aimed at reducing ultraviolet (UV) radiation-induced skin damage and skin cancers. Protection against both UVB and UVA radiation is advocated. Most sunscreens combine chemical UV absorbing sunscreens and physical inorganic sunscreens, which reflect UV, to provide broad-spectrum protection. Newer triazole and camphor-derivative based sunscreens, also provide broad-spectrum protection and are more cosmetically acceptable than many traditional agents. Currently licensed sunscreen ingredients in common use rarely cause allergic or photoallergic reactions. Vitamin D levels are not significantly affected by regular use of a sunscreen. Sunscreen use reduces both the development of precancerous solar keratosis and the recurrence of squamous cell carcinomas. Sunscreen use early in life may be important in prevention of basal cell carcinomas. Increased melanoma risk is influenced by the behaviour patterns of regular sunscreen users, as opposed to any direct effect of sunscreens. Sun protection factor (SPF) is affected by application density, water resistance and other factors. An adequate SPF for an individual should be balanced to skin phenotype and exposure habits. The correct use of sunscreens should be combined with the avoidance of midday sun and the wearing of protective clothing and glasses, as part of an overall sun protection regimen.

Health Behavior↗