UCL-ION
Ontology highlight
ABSTRACT:
PROVIDER: EGAO00000001336 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Organisation EGAO00000000582
| EGAO00000000582 | EGA
Project description:The sequence of human herpesvirus 7 (HHV-7) strain UCL-1 was determined using target enrichment and next-generation sequencing methods. We have identified 86 putative open reading frames (ORFs), and comparative sequence analyses demonstrate that this strain is closely related to the previously sequenced HHV-7 strains RK and JI.
| S-EPMC3795217 | biostudies-literature
Project description:Familial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor (LDLR) gene. Predicting whether novel variants are pathogenic may not be straightforward, especially for missense and synonymous variants. In 2013, the Association of Clinical Genetic Scientists published guidelines for the classification of variants, with categories 1 and 2 representing clearly not or unlikely pathogenic, respectively, 3 representing variants of unknown significance (VUS), and 4 and 5 representing likely to be or clearly pathogenic, respectively. Here, we update the University College London (UCL) LDLR variant database according to these guidelines.PubMed searches and alerts were used to identify novel LDLR variants for inclusion in the database. Standard in silico tools were used to predict potential pathogenicity. Variants were designated as class 4/5 only when the predictions from the different programs were concordant and as class 3 when predictions were discordant.The updated database (http://www.lovd.nl/LDLR) now includes 2925 curated variants, representing 1707 independent events. All 129 nonsense variants, 337 small frame-shifting and 117/118 large rearrangements were classified as 4 or 5. Of the 795 missense variants, 115 were in classes 1 and 2, 605 in class 4 and 75 in class 3. 111/181 intronic variants, 4/34 synonymous variants and 14/37 promoter variants were assigned to classes 4 or 5. Overall, 112 (7%) of reported variants were class 3.This study updates the LDLR variant database and identifies a number of reported VUS where additional family and in vitro studies will be required to confirm or refute their pathogenicity.
| S-EPMC5502305 | biostudies-literature
Project description:Organisation EGAO00000000887
| EGAO00000000887 | EGA
Project description:BackgroundWhile the incidence of ulnar collateral ligament reconstruction (UCLR) has increased across all levels of play, few studies have investigated the long-term outcomes in nonprofessional athletes.PurposeTo determine the rate of progression to higher levels of play, long-term patient-reported outcomes (PROs), and long-term patient satisfaction in nonprofessional baseball players after UCLR.Study designCase series; Level of evidence, 4.MethodsWe evaluated UCLR patients who were nonprofessional baseball athletes aged <25 years at a minimum of 5 years postoperatively. Patients were assessed with the Kerlan-Jobe Orthopaedic Clinic Shoulder and Elbow Score (KJOC), the Timmerman-Andrews (T-A) Elbow score, the Mayo Elbow Performance Score (MEPS), and a custom return-to-play questionnaire.ResultsA total of 91 baseball players met the inclusion criteria, and 67 (74%) patients were available to complete the follow-up surveys at a mean follow-up of 8.9 years (range, 5.5-13.9 years). At the time of the surgery, the mean age was 18.9 ± 1.9 years (range, 15-24 years). Return to play at any level was achieved in 57 (85%) players at a mean time of 12.6 months. Twenty-two (32.8%) of the initial cohort returned to play at the professional level. Also, 43 (79.1%) patients who initially returned to play after surgery reported not playing baseball at the final follow-up; of those patients, 12 reported their elbow as the main reason for eventual retirement. The overall KJOC, MEPS, and T-A scores were 82.8 ± 18.5 (range, 36-100), 96.7 ± 6.7 (range, 75-100), and 91.9 ± 11.4 (range, 50-100), respectively . There was an overall satisfaction score of 90.6 ± 21.5 out of 100, and 64 (95.5%) patients reported that they would undergo UCLR again.ConclusionIn nonprofessional baseball players after UCLR, there was a high rate of progression to higher levels of play. Long-term PRO scores and patient satisfaction were high. The large majority of patients who underwent UCLR would undergo surgery again at long-term follow-up, regardless of career advancement.
| S-EPMC8377318 | biostudies-literature