Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

PURPOSE: Thoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype–phenotype relationships. METHODS: We used a targeted polymerase chain reaction and next-generation sequencing–based panel for genetic analysis of 15 TAAD-associated genes in 1,025 unrelated TAAD cases. RESULTS: We identified 49 pathogenic or likely pathogenic (P/LP) variants in 47 cases (4.9% of those successfully sequenced). Almost half of the variants were in nonsyndromic cases with no known family history of aortic disease. Twenty-five variants were within FBN1 and two patients were found to harbor two P/LP variants. Presence of a related syndrome, younger age at presentation, family history of aortic disease, and involvement of the ascending aorta increased the risk of carrying a P/LP variant. CONCLUSION: Given the poor prognosis of TAAD that is undiagnosed prior to acute rupture or dissection, genetic analysis of both familial and sporadic cases of TAAD will lead to new diagnoses, more informed management, and possibly reduced mortality through earlier, preclinical diagnosis in genetically determined cases and their family members

Benthic community structure and ecosystem functions in above- and below-waterfall pools in Borneo

Waterfalls are geomorphic features that often partition streams into discrete zones. Our study examined aquatic communities, litter decomposition and periphyton growth rates for above- and below-waterfall pools in Ulu Temburong National Park, Brunei. We observed higher fish densities in below-waterfall pools (0.24 fish m−2 vs. 0.02 fish m−2 in above-waterfall pools) and higher shrimp abundance in above-waterfall pools (eight shrimp/pool vs. less than one shrimp/pool in below-waterfall pools). However, macroinvertebrate densities (excluding shrimp) were similar among both pool types. Ambient periphyton was higher in below-waterfall pools in 2013 (4.3 vs. 2.8 g m−2 in above-waterfall pools) and 2014 (4.8 vs. 3.4 g m−2 in above-waterfall pools), while periphyton growth rates varied from 0.05 to 0.26 g m−2 days−1 and were significantly higher in below-waterfall pools in 2014. Leaf litter decomposition rates (0.001 to 0.024 days−1) did not differ between pool types, suggesting that neither shrimp nor fish densities had consistent impacts on this ecosystem function. Regardless, this research demonstrates the varied effects of biotic and abiotic factors on community structure and ecosystem function. Our results have highlighted the importance of discontinuities, such as waterfalls, in tropical streams.</p

Peer review amongst restorative specialists on the quality of their communication with referring dental practitioners

Objective A peer review study was carried out to assess the written communication between consultants and specialist registrars in restorative dentistry with the referring general dental practitioners. Methods Seven people took part in the study and each presented referral and reply letters for five patients whom they had seen for consultation. The referral letters were used for information only and were not used in the peer review process. Each participant inspected the referral and reply letters from the other six participants. The reply letters were anonymously peer reviewed by using a proforma containing agreed criteria in relation to appropriate factors to include in the reply letter. The reviewer also ranked the letter in relation to overall quality on a 1-10 point scale. Results It was found that the participants' letters generally conformed positively with the agreed criteria although there were some differences between individuals. There were particular problems identified in relation to tooth notation. Reply letters commonly used different forms of tooth notation to the referring practitioners. Conclusions The ranking of the letters generally indicated that the participants' replies were judged to be favourable by their peers. There may be scope for continuing this study in relation to peer review by other groups of professionals, in particular practitioners in primary dental care

Dentists with extended skills:the challenge of innovation

BACKGROUND: The aim was to obtain stakeholders' views on the former London Deanery's joint educational service development initiative to train dentists with a special interest (DwSIs) in endodontics in conjunction with the National Health Services (NHS) and examine the models of care provided. METHODS: A convergent parallel mixed methods design including audit of four different models of care, semi-structured interviews of a range of key stakeholders (including the DwSI trainees) and questionnaire surveys of patients and primary care dentists. RESULTS: Eight dentists treated over 1,600 endodontic cases of moderate complexity over a two year training period. A retrospective audit of four schemes suggested that first molars were the most commonly treated tooth (57%; n = 341). Patients who received care in the latter stages of the initiative were 'satisfied' or 'very satisfied' with the service (89%; n = 98). Most dental practitioners agreed that having access to such services would support the care of their patients (89%; n = 215) with 88%; (n = 214) supporting the view that DwSIs should accept referrals from outside of their practice. CONCLUSION: This initiative, developed to provide endodontic care of medium complexity in a primary care setting, received wide support from stakeholders including patients and primary care dentists. The implications for care pathways, commissioning and further research are discussed