Value-based analysis of routine pathologic septal and inferior turbinate specimens.

This article was presented at the 2012 AAO-HNSF Annual Meeting & OTO EXPO; September 9-12, 2012; Washington, DC. Objective To determine the frequency and clinical relevance of unanticipated histopathologic results in routine sinonasal surgery and evaluate the necessity for histologic processing of nasal septal cartilage, bone, and inferior turbinate specimens. Study Design Case series with chart review. Setting Tertiary care academic medical center. Subjects and Methods A retrospective review of surgical pathology reports on adult patients undergoing sinonasal surgery during a 5-year period from 2005 to 2010 was performed. All cases with the preoperative diagnosis of sinonasal neoplasia, autoimmune disease, or directed septal biopsies were excluded from review. Results A total of 1194 pathology reports were reviewed from 1172 individual patients. This included histopathologic evaluation of 1194 septal cartilage and bone specimens and 714 inferior turbinate specimens. None of the patients had unanticipated histopathologic findings that were clinically significant. Conclusion Many surgeons obtain histopathologic diagnoses on all tissue removed from a patient. Based on our institutional case series, histopathology of the septum and inferior turbinates in routine sinonasal cases may not be necessary. A value-based approach to processing grossly unremarkable septal and turbinate tissue by waiving histologic processing and subsequent microscopic evaluation could provide significant cost savings

Orbital Elements of Comet C/1490 Y1 and the Quadrantid shower

The Quadrantid shower, one of the most intense showers, has been observed at the beginning of January each year. However, the origin of the meteors is still unknown. It was Hasegawa (1979) who first suggested comet C/1490 Y1 to be the likely origin of the shower based on the historical records of East Asia. We analyse the records of Jo-Seon-Wang-Jo-Sil-Lok (the Annals of the Joseon Dynasty in ancient Korea) and calculate the preliminary orbital elements of comet C/1490 Y1 using a modified Gauss method. We find that comet C/1490 Y1 was a periodic one and its orbital path was very similar to that of the Quadrantid meteor stream. The determined orbital elements are perifocal passage time Tp=2265652.2983 days (7.8 Jan. 1491 in UT), perifocal distance q=0.769 AU, eccentricity e=0.747, semimajor axis a=3.04 AU, argument of the perifocus omega=164.03 degrees, longitude of ascending node Omega=283.00 degrees, and inclination i=70.22 degrees for the epoch of J2000.0. We, therefore, conclude that our result verifies the suggestion that the comet C/1490 Y1 is the origin of the Quandrantid meteor shower, but was a periodic comet. We dicuss a possible link between this comet and the asteroid 2003 EH1 as well.Comment: 7 pages, 2 figures, accepted for publication in MNRA

Locations and patterns of meiotic recombination in two-generation pedigrees

<p>Abstract</p> <p>Background</p> <p>Meiotic crossovers are the major mechanism by which haplotypes are shuffled to generate genetic diversity. Previously available methods for the genome-wide, high-resolution identification of meiotic crossover sites are limited by the laborious nature of the assay (as in sperm typing).</p> <p>Methods</p> <p>Several methods have been introduced to identify crossovers using high density single nucleotide polymorphism (SNP) array technologies, although programs are not widely available to implement such analyses.</p> <p>Results</p> <p>Here we present a two-generation "reverse pedigree analysis" method (analyzing the genotypes of two children relative to each parent) and a web-accessible tool to determine and visualize inheritance differences among siblings and crossover locations on each parental gamete. This approach is complementary to existing methods and uses informative markers which provide high resolution for locating meiotic crossover sites. We introduce a segmentation algorithm to identify crossover sites, and used a synthetic data set to determine that the segmentation algorithm specificity was 92% and sensitivity was 89%. The use of reverse pedigrees allows the inference of crossover locations on the X chromosome in a maternal gamete through analysis of two sons and their father. We further analyzed genotypes from eight multiplex autism families, observing a 1.462 maternal to paternal recombination ratio and no significant differences between affected and unaffected children. Meiotic recombination results from pediSNP can also be used to identify haplotypes that are shared by probands within a pedigree, as we demonstrated with a multiplex autism family.</p> <p>Conclusion</p> <p>Using "reverse pedigrees" and defining unique sets of genotype markers within pedigree data, we introduce a method that identifies inherited allelic differences and meiotic crossovers. We implemented the method in the pediSNP software program, and we applied it to several data sets. This approach uses data from two generations to identify crossover sites, facilitating studies of recombination in disease. pediSNP is available online at <url>http://pevsnerlab.kennedykrieger.org/pediSNP</url>.</p

What do general practitioners know about ADHD? Attitudes and knowledge among first-contact gatekeepers: systematic narrative review

Background: Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood disorder with international prevalence estimates of 5 % in childhood, yet significant evidence exists that far fewer children receive ADHD services. In many countries, ADHD is assessed and diagnosed in specialist mental health or neuro-developmental paediatric clinics, to which referral by General (Family) Practitioners (GPs) is required. In such ‘gatekeeper’ settings, where GPs act as a filter to diagnosis and treatment, GPs may either not recognise potential ADHD cases, or may be reluctant to refer. This study systematically reviews the literature regarding GPs’ views of ADHD in such settings. Methods: A search of nine major databases was conducted, with wide search parameters; 3776 records were initially retrieved. Studies were included if they were from settings where GPs are typically gatekeepers to ADHD services; if they addressed GPs’ ADHD attitudes and knowledge; if methods were clearly described; and if results for GPs were reported separately from those of other health professionals. Results: Few studies specifically addressed GP attitudes to ADHD. Only 11 papers (10 studies), spanning 2000–2010, met inclusion criteria, predominantly from the UK, Europe and Australia. As studies varied methodologically, findings are reported as a thematic narrative, under the following themes: Recognition rate; ADHD controversy (medicalisation, stigma, labelling); Causes of ADHD; GPs and ADHD diagnosis; GPs and ADHD treatment; GP ADHD training and sources of information; and Age, sex differences in knowledge and attitudes. Conclusions: Across times and settings, GPs practising in first-contact gatekeeper settings had mixed and often unhelpful attitudes regarding the validity of ADHD as a construct, the role of medication and how parenting contributed to presentation. A paucity of training was identified, alongside a reluctance of GPs to become involved in shared care practice. If access to services is to be improved for possible ADHD cases, there needs to be a focused and collaborative approach to training

Interactions among mitochondrial proteins altered in glioblastoma

Mitochondrial dysfunction is putatively central to glioblastoma (GBM) pathophysiology but there has been no systematic analysis in GBM of the proteins which are integral to mitochondrial function. Alterations in proteins in mitochondrial enriched fractions from patients with GBM were defined with label-free liquid chromatography mass spectrometry. 256 mitochondrially-associated proteins were identified in mitochondrial enriched fractions and 117 of these mitochondrial proteins were markedly (fold-change &#8805;2) and significantly altered in GBM (p &#8804; 0.05). Proteins associated with oxidative damage (including catalase, superoxide dismutase 2, peroxiredoxin 1 and peroxiredoxin 4) were increased in GBM. Protein–protein interaction analysis highlighted a reduction in multiple proteins coupled to energy metabolism (in particular respiratory chain proteins, including 23 complex-I proteins). Qualitative ultrastructural analysis in GBM with electron microscopy showed a notably higher prevalence of mitochondria with cristolysis in GBM. This study highlights the complex mitochondrial proteomic adjustments which occur in GBM pathophysiology

Basic Amino Acid Mutations in the Nuclear Localization Signal of Hibiscus Chlorotic Ringspot Virus p23 Inhibit Virus Long Distance Movement

10.1371/journal.pone.0074000PLoS ONE89-POLN