Storey H.,DNA Laboratory |
Savige J.,University of Melbourne |
Sivakumar V.,University of Melbourne |
Abbs S.,University of Cambridge |
Flinter F.A.,Guys and St. Thomas Hospital Foundation Trust
Journal of the American Society of Nephrology | Year: 2013
Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is suspected in consanguineous families and when female patients develop renal failure. Fifteen percent of patients with Alport syndrome have autosomal recessive inheritance caused by two pathogenicmutations in eitherCOL4A3 orCOL4A4. Here, we describe the mutations and clinical features in 40 individuals including 9 children and 21 female individuals (53%) with autosomal recessive inheritance indicated by the detection of two mutations. The median age was 31 years (range, 6-54 years). The median age at end stage renal failure was 22.5 years (range, 10-38 years), but renal function was normal in nine adults (29%). Hearing loss and ocular abnormalities were common (23 of 35 patients [66%] and 10 of 18 patients [56%], respectively). Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4. Of the 68 variants identified, 39 were novel, 12 were homozygous changes, and 9 were present in multiple individuals, including c.2906C.G (p.(Ser969*)) in COL4A4, which was found in 23%of the patients. Thirty-six variants (53%) resulted directly or indirectly in a stop codon, and all 17 individuals with early onset renal failure had at least one such mutation, whereas these mutations were less common in patients with normal renal function or late-onset renal failure. In conclusion, patient phenotypes may vary depending on the underlying mutations, and genetic testing should be considered for the routine diagnosis of autosomal recessive Alport syndrome. Copyright © 2013 by the American Society of Nephrology.
Fleet J.,Guys and St. Thomas Hospital Foundation Trust |
Chen S.,Guys and St. Thomas Hospital Foundation Trust |
Martin F.C.,Guys and St. Thomas Hospital Foundation Trust |
Ernst T.,Guys and St. Thomas Hospital Foundation Trust
International Psychogeriatrics | Year: 2014
Background: Delirium is a major cause of morbidity and mortality amongst hospital patients. Previous studies have shown that it is often poorly recognized and managed. We wanted to assess the impact of a multifaceted intervention on delirium management.Methods: A pre/post-intervention design was used. The local hospital delirium guideline was adapted into A7 sized cards and A3/A2 posters. Cards were distributed to junior doctors and teaching sessions were held. Computer screen savers were displayed and delirium promotion days held. The pre/post-intervention data were used to audit the following: delirium knowledge through questionnaires, documented use of the confusion assessment method (CAM) and identification and management of eight common precipitating factors. Re-audit was four months post baseline with interventions within this period. χ2 tests were used for statistical analysis.Results: A convenience sample of randomly selected doctors in postgraduate training posts completed 100 questionnaires and 25 clinical notes were selected via retrospective identification of delirium. Results from questionnaires demonstrated significant improvements in: recognizing CAM as the diagnostic tool for delirium (24% vs. 71%, p < 0.01); identifying haloperidol as first line in pharmacological management (55% vs. 98%, p <0.01) and its correct dose (40% vs. 67%, p <0.01). In clinical practice, there was significant improvement in documentation of CAM for inpatient delirium assessments (0% vs. 77%, p <0.01). Trainees found the delirium card very helpful (82%) and carried it with them at all times (70%).Conclusion: This multifaceted intervention increased CAM use in delirium recognition and improved the knowledge of pharmacological management. The delirium card was highly popular. © International Psychogeriatric Association 2014.