5 results on '"Likely benign"'
Search Results
2. Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases
- Author
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Panlai Shi, Conghui Wang, Rui Li, and Xiangdong Kong
- Subjects
Adult ,Parents ,copy number variations (CNVs) ,0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,DNA Copy Number Variations ,lcsh:QH426-470 ,endocrine system diseases ,030105 genetics & heredity ,Biology ,CNV‐seq ,Young Adult ,03 medical and health sciences ,Fetus ,Likely benign ,Pregnancy ,Gene Duplication ,mental disorders ,Gene duplication ,Genetics ,Humans ,Clinical significance ,Copy-number variation ,Molecular Biology ,Uncertain significance ,Genetics (clinical) ,Likely pathogenic ,parental origin ,High-Throughput Nucleotide Sequencing ,Sequence Analysis, DNA ,Original Articles ,clinical interpretation ,lcsh:Genetics ,030104 developmental biology ,New mutation ,Amniocentesis ,Female ,Original Article ,Gene Deletion - Abstract
Background The sources and variants types of the copy number variations (CNVs) in prenatal fetal, and the critical role of parental origin on the interpretation of fetal CNVs are unclear. Methods One hundred and forty‐one prenatal core families with abnormal CNVs were selected and performed by low‐coverage massively parallel CNV sequencing (CNV‐seq). Results The data showed that 72.3% of fetal CNVs were derived from parents, and 27.7% were new variations. Sixty‐three cases were heterozygous deletion, 70 cases were threefold duplication, six cases were complex deletion and duplication, and two cases were fourfold repeats. That means the rate of heterozygous deletion and duplication was approximate one. In addition, in parental‐derived fetal abnormal CNVs reports, before validating parental origin, 62 CNVs were variants of uncertain significance (VUS), 15 CNVs were likely benign, 20 CNVs were likely pathogenic, and 5 CNVs were pathogenic. However, after validating parental origin, the total clinical significance changed into 12 VUS, 89 likely benign, 1 likely pathogenic, and 0 pathogenic. The clinical interpretation of 78.4% fetal CNVs was changed and tended to be benign after parental CNVs were detected. Besides, we followed up all families. 93.3% parental‐derived fetal and 30.3% fetus in new mutation group were born healthy. Conclusion Parental origin verification has an important significance for interpretation on the clinical significance of fetal CNVs.
- Published
- 2019
3. Copy number variations in children with brain malformations and refractory epilepsy
- Author
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Daniel A. Martin, Britt-Marie Anderlid, Aron Luthman, Maria Dahlin, Sintia Kolbjer, Josephine Wincent, and Per Åmark
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,DNA Copy Number Variations ,First line ,Comorbidity ,Epilepsy ,Likely benign ,Genetics ,medicine ,Humans ,Copy-number variation ,Genetic Association Studies ,In Situ Hybridization, Fluorescence ,Genetics (clinical) ,Chromosome Aberrations ,Comparative Genomic Hybridization ,business.industry ,Medical record ,Brain ,Infant ,medicine.disease ,Radiography ,Child, Preschool ,Cerebral malformations ,Refractory epilepsy ,Female ,business - Abstract
Brain malformations are a major cause of therapy-refractory epilepsy as well as neurological and developmental disabilities in children. This study examined the frequency and the nature of copy number variations among children with structural brain malformations and refractory epilepsy. The medical records of all children born between 1990 and 2009 in the epilepsy registry at the Astrid Lindgren's Children's Hospital were reviewed and 86 patients with refractory epilepsy and various brain malformations were identified. Array-CGH analysis was performed in 76 of the patients. Pathogenic copy number variations were detected in seven children (9.2%). In addition, rearrangements of unclear significance, but possibly pathogenic, were detected in 11 (14.5%) individuals. In 37 (48.7%) patients likely benign, but previously unreported, copy number variants were detected. Thus, a large proportion of our patients had at least one rare copy number variant. Our results suggest that array-CGH should be considered as a first line genetic test for children with cerebral malformations and refractory epilepsy unless there is a strong evidence for a specific monogenic syndrome.
- Published
- 2015
4. Dual-time-point 18F-FDG-PET/CT imaging in the assessment of suspected malignancy
- Author
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Lisa Tarlinton, Adam Hickey, Robert Dura, Stuart C. Ramsay, Andy Young, Judith M Pohlen, E. Szeto, Judith Freund, and Wai-Ling Chan
- Subjects
medicine.medical_specialty ,business.industry ,Malignancy ,medicine.disease ,Text mining ,Oncology ,Likely benign ,Suspected malignancy ,Medicine ,Delayed imaging ,Radiology, Nuclear Medicine and imaging ,Fdg pet ct ,Radiology ,business ,Nuclear medicine ,Semi quantitative ,Dual time point - Abstract
Introduction (purpose of the study): The objective of this study was to assess whether dual-time-point ¹⁸F-fluoro-2-deoxyglucose (¹⁸F-FDG)-PET/CT imaging improved the evaluation of suspected malignancy and if there was any resulting change in management. Methods: A total of 53 patients with suspected malignancy were investigated by performing two static acquisitions started at mean times t = 64 and t = 155 min after the tracer injection. The total number of malignant lesions was 133 and the total number of benign lesions was 61. Visual and semiquantitative analysis was performed on both the early and delayed images. Results: Overall, there was a significant improvement (P < 0.001) in the sensitivity of delayed imaging (94%) compared with early imaging (77%) in detecting malignant lesions, without a reduction in specificity. In 10 patients, 13 malignant lesions were undetected on early imaging alone but detected on delayed imaging. In seven patients, 10 malignant lesions were incorrectly classified as 'likely benign' on early imaging but correctly reported as 'likely malignant' on delayed imaging. Management was altered in 2 out of 17 patients. Overall, delayed imaging altered management in 2 out of 53 studied patients. Dual-time-point ¹⁸FDG-PET/CT imaging was useful in differentiating malignant from benign intra-abdominal lesions but did not improve the evaluation of pulmonary lesions. Conclusions:¹⁸F-FDG-PET/CT imaging should be performed as late as reasonably possible after tracer administration in order to increase tumour-to-background contrast and thereby improve the sensitivity of demonstrating additional sites of disease. Dual-time-point ¹⁸FDG-PET/CT may be of benefit in the evaluation of intra-abdominal lesions but does not improve the overall evaluation of pulmonary lesions.
- Published
- 2011
5. A new statutory director?s duty for Australia ? a ?duty? to be concerned about employee entitlements in the insolvent corporation
- Author
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Christopher Symes
- Subjects
Insolvency ,Creditor ,media_common.quotation_subject ,Legislation ,Legislature ,Corporation ,Likely benign ,Statutory law ,Law ,Economics ,Duty ,Finance ,media_common - Abstract
Australia has introduced legislation that is aimed at preventing a person from entering into agreements or conducting transactions with the intention of defeating the recovery of employee entitlements. It is essentially aimed at directors and their behaviour in the pre-appointment period. This paper discusses the history leading up to such a legislative move and the likely benign impact now that the Corporations Act in Australia prohibits such behaviour. Further, the paper argues that mooted changes to the legislation giving employees a ‘maximum priority’ ahead of secured creditors is unnecessary. Copyright © 2003 John Wiley & Sons, Ltd.
- Published
- 2003
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