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Sökning: WFRF:(Södermark Liv)

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1.
  • Célind, Jimmy, et al. (författare)
  • Adherence to treatment guidelines for acute otitis media in children. The necessity of an effective strategy of guideline implementation
  • 2014
  • Ingår i: International Journal of Pediatric Otorhinolaryngology. - : Elsevier BV. - 0165-5876. ; 78:7, s. 1128-1132
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives: Acute otitis media is the single diagnosis responsible for most prescriptions of antibiotics in Sweden and the USA. The treatment of acute otitis media has significant impact on child health, healthcare costs, and the development of anti-microbial resistance. In the Swedish national guidelines from the year 2000, watchful waiting was recommended for most children over 2 years of age. The aims of the present study were to assess the degree of adherence to acute otitis media guidelines at a busy pediatric emergency department of a university hospital and to determine whether an information campaign changed the result. Methods: Audit of 91 patient records before and 80 patient records after an information campaign consisting of an oral presentation, posting of flow charts, and sending of educational material to prescribing physicians. Four endpoints were studied: choosing to use antibiotics, choice of antibiotic, dosage of antibiotic, and duration of treatment. Results: Before the information campaign, adherence to guidelines was between 70% (dosage) and around 90% (duration). No significant change was seen after the information campaign. The endpoint choosing to use antibiotics showed a large divergence in adherence in children under 2 years (96%) compared to older children (39%). Conclusions: Overall adherence to recommendations was 70-90% but adherence to watchful waiting was poor. Information did not improve adherence, suggesting insufficient educational power or the existence of barriers other than lack of knowledge. Specific barriers should be identified, and implementation and follow-up should be part of producing guidelines in order to achieve the desired results. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
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2.
  • Thunstrom, S., et al. (författare)
  • UBE2A Deficiency Syndrome: A Report of Two Unrelated Cases with Large Xq24 Deletions Encompassing UBE2A Gene
  • 2015
  • Ingår i: American Journal of Medical Genetics Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 167A:1, s. 204-210
  • Tidskriftsartikel (refereegranskat)abstract
    • Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a syndromic form of X-linked intellectual disability called UBE2A deficiency syndrome or X-linked intellectual disability type Nascimento (OMIM#300860). Common clinical features in these patients include moderate to severe intellectual disability (ID), heart defects, dysmorphic features such as high forehead, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, wide mouth, myxedematous appearance, hirsutism, onychodystrophy, and genital anomalies. This study investigates clinical and molecular data of two unrelated, affected males with chromosome Xq24 deletions encompassing UBE2A. Both have been followed from birth until two years of age. A review of the previously published patients with deletions encompassing UBE2A is provided. Besides the common features, the two boys show anomalies not previously described, such as retinal coloboma, esophageal atresia with esophageal fistula, long fingers, camptodactyly, clinodactyly, and long broad toes. Analyses of the phenotype-genotype correlations suggest considerable prevalence of heart defects in the group of patients with larger deletions of Xq24 in comparison to the patients having intragenic UBE2A mutations. However, further studies are needed in order to establish statistically reliable phenotype-genotype correlations of this syndrome. (C) 2014 Wiley Periodicals, Inc.
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