A reference system for BRCA mutation detection based on next-generation sequencing in the Chinese population

This study was performed to establish a reference system for performance evaluation of BRCA genetic testing and variant interpretation, which includes interpretation rules, reference materials (RMs), and a reference database (RD). BRCA1/2 mutations identified in cell lines and clinical cases were selected to establish RMs. All mutations were detected by NGS and validated by Sanger sequencing. Variant call format files and standard variant data sets were collected and annotated to build the RD. Participant laboratories were invited to validate this reference system. Interpretation rules for BRCA variants in the Chinese population were generated as a standard for BRCA variant interpretation. Mutational analysis demonstrated that BRCA2 mutations (55%) were more common than BRCA1 mutations (45%) in Chinese patients. Eliminating duplicates from 19,886 variants, the RD contained 750 unique BRCA mutations. The majority of the BRCA1/2 mutations in the reference system were pathogenic or likely pathogenic (RMs, 77.5%; RD, 57%). In total, 91 novel pathogenic/likely pathogenic variants were identified in the RD. The reference system can contribute to NGS performance and high-quality interpretation to facilitate clinical-decision making. It could also accelerate the development and application of BRCA mutation detection technologies in China.
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research

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Authors: Aseni P, Di Domenico SL, Barbosa F, Rampoldi A, Berry C Abstract Introduction: Hemoperitoneum can be a life-threating condition in cirrhotic patients who have a limited compensatory reserve during hemorrhagic shock. We aim to review the literature on the different etiologies associated with non-traumatic hemoperitoneum (NTH), summarizing the most relevant conditions associated with spontaneous and iatrogenic peritoneal and retroperitoneal bleeding that may occur in cirrhotic patients and to illustrate the most relevant diagnostic strategies and optimal management. Area covered: This review encompasses the ...
Source: Expert Review of Gastroenterology and Hepatology - Category: Gastroenterology Tags: Expert Rev Gastroenterol Hepatol Source Type: research
Conclusions: Between 2007 and 2010, endoscopic monitoring of patients within the first year after CD-related surgery was less than adequate based on current standards, but showed improvement. Medication changes were in general agreement with current guideline recommendations. This work was presented as a poster (number P686) by M. Barreiro-de Acosta et al. at ECCO (European Crohn's and Colitis Organisation) '18 in Vienna, Austria, 14-17 February 2018. PMID: 31203691 [PubMed - as supplied by publisher]
Source: Expert Review of Gastroenterology and Hepatology - Category: Gastroenterology Tags: Expert Rev Gastroenterol Hepatol Source Type: research
Authors: Haution D, Lala E, Le Lez ML, Laube N, Serrhini C, Jean-Lechner M, Dorvault M, Pisella PJ Abstract PURPOSE: To demonstrate a decrease in distance visual acuity (VA) following instillation of mydriatic eyedrops in eyes with exudative age-related macular degeneration (AMD). MATERIALS AND METHODS: A prospective assessment in clinical practice was conducted in our ophthalmology department at the University Hospital of Tours from 7/19/2018 to 8/29/2018. Distance (ETDRS) and near (Parinaud) VA were assessed before and after instilling one drop each of tropicamide 0.5% and phenylephrine 10% in the 40 included...
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
Authors: El Moize Z, Abdallah E, Benazzou S, Amazouzi A, Cherkaoui O PMID: 31204087 [PubMed - as supplied by publisher]
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
Authors: Albaroudi N, Tijani M, Boutimzine N, Cherkaoui O PMID: 31204086 [PubMed - as supplied by publisher]
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
DISCUSSION: Our data does not appear to suggest a significant protective effect of smoking on the occurrence of KC. It shows a lesser proportion of smokers in KC patients after A-CXL, but this difference did not exist at the time of KC diagnosis. PMID: 31204085 [PubMed - as supplied by publisher]
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
Conclusion: TIPS is an effective treatment for variceal bleeding and refractory ascites in most cases, but more than half of the patients experience either death, stent dysfunction, recurrence of symptoms, or overt HE within the first year after the procedure. PMID: 31203699 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
Conclusions: IBD causes a significant burden to the Finnish healthcare system. This study provides a detailed characterization of the cost landscape of IBD and contributes to optimizing treatment strategies and healthcare resource use in the biosimilar era. PMID: 31203693 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
Conclusion: Vascular abnormalities of the liver were commonly observed in thioguanine treated IBD patients, although these were not progressive and remained of limited clinical relevance over time. PMID: 31203688 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
In the past decade, there has been important movement in the recognition of adolescent health as a global concern, especially with the attention in the Sustainable Development Goals to adolescence as a period of both risk and opportunity [1,2]. Increasingly, international frameworks, commitments, research, and advocacy are acknowledging the complex and distinct health burden that girls and boys face during adolescence [3 –6]. The Lancet Commission on Adolescent Health and Wellbeing consolidated important patterns and insights not only regarding the nature of this burden but also on the range of interventions and poli...
Source: Journal of Adolescent Health - Category: Child Development Authors: Tags: Editorial Source Type: research
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