Search results for " variants"

Human Papillomavirus (HPV) Detection in Keratotic Variants of Oral Lichen Planus: Negative Results in a Preliminary Open Study

2017

Background During the last few decades, several researches have been identified HPV genomic sequences in Head Neck Squamous Cell Carcinomas (HNSCC) and in Oral Potentially Malignant Disorders (OPMD) hypothesizing a possible viral etiological role. However, the reported prevalence of HPV-DNA (varying from 0% to 100%) in these lesions result still very discordant. Objective Human papillomavirus (HPV) infection in Oral Lichen Planus (OLP) has been largely investigated but not so extensively with respect to its morphological/histopathological features. The possible influence of hyper-keratosis/parakeratosis in HPV detection for keratotic variants of OLP is here proposed and investigated. Materi…

Congenital myopathy and epidermolysis bullosa due to PLEC variant

2021

Abstract We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for variant classification in genetic diagnostics. A thorough reassessment of the patient revealed mild skin blistering (epidermolysis bullosa simplex, EBS). This illustrates the importance of deep phenotyping of neuromuscular patients.

Increase in viral gastroenteritis outbreaks in Europe and epidemic spread of new norovirus variant.

2004

Background Highly publicised outbreaks of norovirus gastroenteritis in hospitals in the UK and Ireland and cruise ships in the USA sparked speculation about whether this reported activity was unusual. Methods We analysed data collected through a collaborative research and surveillance network of viral gastroenteritis in ten European countries (England and Wales were analysed as one region). We compiled data on total number of outbreaks by month, and compared genetic sequences from the isolated viruses. Data were compared with historic data from a systematic retrospective review of surveillance systems and with a central database of viral sequences. Findings Three regions (England and Wales,…

Vispārcilvēcisko vērtību aktualizācija K. Skalbes pasaku apguvē literatūras stundās 11. klasē

2017

Diplomdarba „Vispārcilvēcisko vērtību aktualizācija K. Skalbes pasaku apguvē literatūras stundās 11. klasē” mērķis ir izstrādāt metodiskās sistēmas variantu veiksmīgai Kārļa Skalbes personības un pasaku apguvei literatūras mācību stundās vispārējās vidējās izglītības mācību iestādē 11. klasē, aktualizējot tajās paustās ētiski estētiskās vērtības. Darba saturu veido ievads, piecas nodaļas ar apakšnodaļām, secinājumi un pielikumi. Pirmā nodaļa veidota, apzinot un studējot literatūru par vērtīborientētas skolēnu un skolotāja sadarbības nozīmību literatūras mācību procesā. Otrā nodaļa balstīta uz izzināto zinātnisko literatūru, atmiņu un apcerējumu par Kārļa Skalbes dzīves gājumu izpēti, viņa d…

The use of different style variants and style shifting and their functions in the speech of an EFL teacher

2008

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

2011

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

Problem Transformation Methods with Distance-Based Learning for Multi-Target Regression

2020

Multi-target regression is a special subset of supervised machine learning problems. Problem transformation methods are used in the field to improve the performance of basic methods. The purpose of this article is to test the use of recently popularized distance-based methods, the minimal learning machine (MLM) and the extreme minimal learning machine (EMLM), in problem transformation. The main advantage of the full data variants of these methods is the lack of any meta-parameter. The experimental results for the MLM and EMLM show promising potential, emphasizing the utility of the problem transformation especially with the EMLM. peerReviewed