122,240 research outputs found
Decreased endovascular trophoblast invasion in first trimester pregnancies with high-resistance uterine artery Doppler indices
No full textDUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom
No full textBackground: The etiology, course, and most appropriate management of borderline congenital hypothyroidism (CH) are poorly defined, such that the optimal threshold for diagnosis with bloodspot screening thyrotropin (bsTSH) measurement remains controversial. Dual oxidase 2 (DUOX2) mutations may initially cause borderline elevation of bsTSH, which later evolves into significant hypothyroidism on venous blood measurement. It was hypothesized that mutations in both DUOX2 and its accessory protein DUOXA2 may occur frequently, even in patients with borderline bsTSH elevation, such that higher diagnostic thresholds in bsTSH screening may fail to detect such cases, with consequent risk of undiagnosed neonatal hypothyroidism of sufficient magnitude to require thyroxine therapy. This study aimed to investigate the frequency and characteristics of DUOX2 and DUOXA2 mutations in a borderline CH cohort.
Methods: A cross-sectional study of patients with borderline CH was undertaken at Great Ormond Street Hospital, a tertiary British pediatric center. DUOX2 was sequenced in 52 patients with a bsTSH of 6-19.9 mIU/L, venous TSH of >25 mIU/L, and eutopic thyroid gland in situ. DUOXA2 was sequenced in DUOX2 mutation-negative cases, and novel DUOXA2 mutations were functionally characterized.
Results: A total of 26 (50%) patients harbored likely pathogenic mutations in DUOX2 (n = 20; 38%) or DUOXA2 (n = 6; 12%), including novel gene variants (DUOX2, n = 3; DUOXA2, n = 7). Two recurrent DUOX2 mutations (p.Q570L, p.F966Sfs*29) occurred frequently in population databases (MAF >= 0.01). Despite bsTSH being <10 mIU/L in 46% of DUOX2 and DUOXA2 mutation-positive cases, venous free thyroxine levels in these patients were in the moderate CH range (M=9.3 pmol/L, range <3.9-15.8pmol/L),
Conclusions: Targeted DUOX2 and DUOXA2 sequencing in a borderline CH cohort has a high diagnostic yield. These findings might argue for a lowering of bsTSH thresholds, but follow-up studies are required to assess whether cases with borderline bsTSH harboring DUOX2/DUOXA2 mutations will benefit from an early diagnosis and subsequent levothyroxine treatment
A Multi-Language Comparison of Influences on Author Verification using Character N-Grams
No full textWe create a new multi-language corpus for author verification based on Wikipedia talkpages, and evaluate the influence that differences in topic and time have on character n-gram author profiles. Topic alignment between two texts is found to increase author verification precision, and an authors writing style is found to change over time, but not more significantly after 3 years than after 1 year.Information ArchitectureWISElectrical Engineering, Mathematics and Computer Scienc
Diagnostic yield and safety of ultrasound-guided bowel mass biopsies in children
No full textBACKGROUND: Traditionally, ultrasound (US)-guided bowel mass biopsies are avoided in favour of endoscopic or surgical biopsies. However, endoscopy cannot easily reach lesions between the duodenojejunal flexure and the terminal ileum and lesions not involving the mucosa may not be accessible via an endoscopic route. OBJECTIVE: The aim of this study was to report our technique and to assess the diagnostic accuracy and safety of US-guided biopsy of bowel masses in children. MATERIALS AND METHODS: We conducted a 14-year retrospective review of US-guided bowel mass biopsies at a single paediatric hospital. RESULTS: Twenty US-guided bowel mass biopsies were performed in 19 patients (median age: 6 years and 6 months, range: 22 months-17 years, median weight: 22 kg, range: 10.2-48.4 kg). For 14 biopsies, there was no other lesion that could potentially be biopsied. A percutaneous coaxial technique was used for 19 biopsies and a transanal non-coaxial biopsy was performed in 1. A median of 9 (range: 2-15) cores of tissue was obtained at each biopsy. The technical success rate and adequacy of diagnostic yield were 100%. The most common diagnosis was lymphoma, which occurred in 16 biopsies. Three biopsies contained mucosa. There was one complication out of 20 biopsies (5%, 95% confidence interval 0-15%): a self-limiting, post biopsy pyrexia. Nineteen procedures were accompanied by a bone marrow aspirate and/or trephine within 2 weeks of the bowel biopsy, only one of which was diagnostic. CONCLUSION: US-guided bowel mass biopsy can be performed safely in children, with a high diagnostic yield and low complication rate.sponsorship: P.D.C. is supported by National Institute for Health Research. P.A.P. is supported by GIFT-SURG Wellcome Trust/ Engineering and Physical Sciences Research Council programme grant. This study was supported by the Great Ormond Street Hospital Children's Charity and the National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre. The views expressed are those of the author(s) and not necessarily those of the National Health Service, the National Institute for Health Research or the Department of Health in England. (National Institute for Health Research, GIFT-SURG Wellcome Trust/ Engineering and Physical Sciences Research Council programme grant, Great Ormond Street Hospital Children's Charity, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre)status: Publishe
Appropriate Similarity Measures for Author Cocitation Analysis
No full textWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
The vanishing author in computer-generated works: a critical analysis of recent Australian case law
No full textAbstract
The use of software is ubiquitous in the creation of many copyright works, yet the requirement in copyright law that every work have a human author who engages in independent intellectual effort means that its use may prevent copyright subsistence. Several recent Australian cases have refocused attention on authorship as an essential criterion of copyright subsistence, and these cases suggest that much computer-produced output may be authorless and thus lack copyright protection. This article, the first in a two-part series, analyses how each case deals with the question of authorship of computer-produced works and why the use of software diminishes copyright protection for a significant number of computer-generated works. The article critiques the application of conventional notions of human authorship developed in the pre-computer age to modern productions and suggests alternative approaches to authorship that satisfy both the major objectives of copyright policy and the need to adapt to the computer age. The article argues that, without a broader judicial approach to authorship of computer-generated works, Parliament must remedy the lacuna in protection for these ‘authorless’ works. Possible solutions for reform are suggested. In a forthcoming article, the author comprehensively examines those reform proposals
Diffusive author(s), cohesive author: Analysis of S/N (1994)
No full textThis study indicates the ways in which various aspects of the author(s) are brought forth in Dumb type’s performance art, the S/N production. Previous research has suggested a non-hierarchical organization of Dumb type and the absence of a “privileged author” in Dumb type’s collaborative work, S/N. However, the results that I have investigated from member’s interviews on the creative process of S/N along with my analysis of the recorded images of S/N, indicate a different aspect of the author(s). First, S/N was created through, so to speak, the collective ideas of the members of Dumb type. Further, S/N has at least nine quotations from previous performances, installations, and printed writings, besides the work-in-progress technique. Explicating one of the “author functions” as given by Michel Foucault, each text has plural subjects of the author. However, it has been revealed from members’ interviews that Teiji Furuhashi had a decision-making role in selecting the members’ ideas within the performance. Since then, S/N has had plural subjects of creation; however, Furuhashi is one of the subjects of creation along with the “privileged author.” S/N has plural authors (diffusive authors) yet at the same time, it has a “privileged author,” Teiji Furuhashi (cohesive author)
Pancreatic tumours in children: diagnosis, treatment and outcome
No full textPurpose: Pancreatic tumours in children are exceedingly rare and as a result constitute a diagnostic and therapeutic challenge to paediatric surgeons. We reviewed our experience with these rare entities.Methods: Retrospective single institution study on all paediatric pancreatic tumours over a period of 38 years (1973-2011) and literature review. We recorded data relating to the clinical features at presentation, diagnostic evaluation, treatment and outcome.Results: Fourteen patients were identified (8 male). The most common symptoms at presentation were abdominal pain, anorexia and vomiting. Two cases were discovered incidentally. There were 12 primary and 2 metastatic tumours. Tumour types were Solid Pseudopapillary neoplasm (n=6), Insulinoma (n=3), Pancreatoblastoma (n=1), congenital pancreatic cyst(n=1), Burkitt lymphoma of the pancreas (n=1) and metastatic lesions of other primary tumours(n=2). Twelve were treated with surgical resection including 2 laparoscopically. Post-surgical complications included acute pancreatitis (n=2) and pancreatic pseudocyst (n=2). There was one death from a metastatic tumour and treatment is ongoing in one patient. The remainder have survived. Conclusion: Paediatric pancreatic tumours are rare entities and are usually benign. Clinical symptoms are often non-specific and presentation may be late due to tumour inactivity in case of endocrine neoplasms. For most tumours, surgical resection is the optimal treatment which may be successfully performed laparoscopically when the lesion is in the body or tail of the pancreas. Long term outcome is generally good.<br/
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