scholarly journals APOE gene testing in FH referrals – the story so far

2021 ◽  
Vol 43 ◽  
pp. S2
Author(s):  
C. Duff-Farrier ◽  
M. Pennock ◽  
E. Watson ◽  
N. Forrester ◽  
S. Marsh ◽  
...  
Keyword(s):  
Apoe Gene ◽  
Gene Testing

Associations of separate working memory parameters with apolipoprotein E gene polymorphism in Siberian adolescents: a population study

2020 ◽  
pp. 43-45
Author(s):  
А.В. Суханов ◽  
А.А. Гуражева ◽  
Д.В. Денисова ◽  
В.Н. Максимов
Keyword(s):  
Central Nervous System ◽  
Working Memory ◽  
Cognitive Functions ◽  
The State ◽  
Apoe Gene ◽  
Adolescent Population ◽  
Apolipoprotein E Gene ◽  
Negative Effect ◽  
The Central Nervous System ◽  
E4 Allele

Ген APOE - это один из наиболее известных генов, ассоциированных с развитием как сердечно-сосудистых, так и нейродегенеративных заболеваний центральной нервной системы, сопровождающихся нарушением когнитивных функций (КФ). В ходе настоящего исследования изучены ассоциации аллелей гена APOE с нарушением КФ у подростков г. Новосибирска. Состояние КФ было оценено у 231 мальчика (42,1%) и у 318 девочки (57,9%). Их средний возраст составил 15,66 ± 0,9 года. Выявлено, что наличие аллеля Е4 оказывает негативное влияние на состояние рабочей памяти уже в подростковом возрасте. The APOE gene is one of the most famous genes associated with the development of both cardiovascular diseases and neurodegenerative diseases of the central nervous system, accompanied by impaired cognitive functions. In the course of this study, the associations of APOE gene alleles with cognitive functions violation in the adolescent population of Novosibirsk were studied. The state of cognitive functions was evaluated in 231 boys (42.1%) and 318 girls (57.9%). Their average age was 15.66 ± 0.9 years. It was revealed that the presence of the E4 allele of the APOE gene has a negative effect on the state of working memory even in adolescence.

scholarly journals Multi-Gene Testing Overview with a Clinical Perspective in Metastatic Triple-Negative Breast Cancer

2021 ◽  
Vol 22 (13) ◽  
pp. 7154
Author(s):  
Martina Dameri ◽  
Lorenzo Ferrando ◽  
Gabriella Cirmena ◽  
Claudio Vernieri ◽  
Giancarlo Pruneri ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Triple Negative ◽  
Checkpoint Inhibitors ◽  
Gene Testing ◽  
Repair Deficiency ◽  
Targeted Treatments ◽  
Recombination Repair ◽  
Tumor Mutational Burden ◽  
Next Generation Sequencing Ngs

Next-generation sequencing (NGS) is the technology of choice for the routine screening of tumor samples in clinical practice. In this setting, the targeted sequencing of a restricted number of clinically relevant genes represents the most practical option when looking for genetic variants associated with cancer, as well as for the choice of targeted treatments. In this review, we analyze available NGS platforms and clinical applications of multi-gene testing in breast cancer, with a focus on metastatic triple-negative breast cancer (mTNBC). We make an overview of the clinical utility of multi-gene testing in mTNBC, and then, as immunotherapy is emerging as a possible targeted therapy for mTNBC, we also briefly report on the results of the latest clinical trials involving immune checkpoint inhibitors (ICIs) and TNBC, where NGS could play a role for the potential predictive utility of homologous recombination repair deficiency (HRD) and tumor mutational burden (TMB).

Dual disruption of eNOS and ApoE gene accelerates kidney fibrosis and senescence after injury

2021 ◽  
Vol 556 ◽  
pp. 142-148
Author(s):  
Kenji Nishimura ◽  
Kensei Taguchi ◽  
Seiji Kishi ◽  
Craig R. Brooks ◽  
Arisa Ochi ◽  
...  
Keyword(s):  
Apoe Gene ◽  
Kidney Fibrosis

Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Hong‐Hua Jiang ◽  
Yan Guo ◽  
Xian Shen ◽  
Ying Wang ◽  
Ting-Ting Dai ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Chinese Literature ◽  
Brain Mri ◽  
Classical Type ◽  
Novel Mutations ◽  
Maple Syrup ◽  
Gene Testing ◽  
Urine Disease ◽  
Bckdhb Gene ◽  
Branched Chain

Abstract Objectives To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. Methods Clinical data of a case of a newborn with MSUD was retrospectively studied. Literatures on MSUD in the local medical journals from January 1990 till December 2019 in China were reviewed. Results Two novel BCKDHB mutations c.90_91insCTGGCGCGGGG (p.Phe35TrpfsTer41) and c.80_90del (p.Ala32PhefsTer48) were identified. We found a total of 52 cases of MSUD reports so far. A total of 49 cases had the symptom of poor feeding (94.2%), 50 cases showed poor responses to stimulation (96.2%), 21 cases had odor of maple syrup (40.3%), 29 cases had seizures (55.7%), and 13 cases had respiratory failure (25.0%). The average of the blood ammonia was 127.2 ± 75.0 μmol/L. A total of 18 cases reported the gene testing, among of them 9 cases of BCKDHA mutations, 6 cases of BCKDHB mutations, and 2 cases of DBT mutations. A total of 13 cases (25%) were treated with mechanical ventilation, 50 cases (96.2%) with protein-restricted diet and l-carnitine, 29 cases with thiamine, and only 2 cases were treated with blood purification. Finally, 19 patients (36.5%) were died, 21 cases (40.4%) were improved after treatments. Conclusions The clinical phenotype of neonatal MSUD in China belongs to the classical type currently. Suspected patients should have blood or urine branched-chain amino acid levels tested and brain MRI as early as possible to enable early diagnosis, thus improvement in prognosis.

scholarly journals A Case Report of Primary Resistance to EGFR TKI in Lung Adenocarcinoma Due to Coexisting MET Exon 14 Skipping Mutation with Excellent Response to Combination of Gefitinib and Capmatinib

2021 ◽  
Author(s):  
Nirmal Vivek Raut ◽  
Siddharth Srivastava ◽  
Guarav Dilip Gangwani ◽  
Heena Sajid Ali
Keyword(s):  
Kinase Inhibitors ◽  
Single Gene ◽  
Growth Factor Receptor ◽  
Nonsmall Cell Lung Cancer ◽  
Primary Resistance ◽  
Gene Testing ◽  
Comprehensive Genomic Profiling ◽  
Egfr Tyrosine Kinase Inhibitors ◽  
Next Generation Sequencing Ngs ◽  
Egfr Tki

AbstractTreatment of nonsmall cell lung cancer (NSCLC) carrying an epidermal growth factor receptor (EGFR) mutation depends on EGFR tyrosine kinase inhibitors (TKIs). However, all patients treated with EGFR TKI eventually develop progressive disease. Approximately, 20% of patients do not respond to EGFR TKIs, which is defined as primary resistance. The prognosis of these patients is similar to NSCLC with nondriver mutations. We report a case of a patient with EGFR exon 21 mutation who rapidly progressed in 15 days on Gefitinib. Next-generation sequencing (NGS) showed a MET exon 14 skip mutation coexisting with EGFR exon 21 mutation, causing primary resistance to EGFR TKI. Based on NGS reports, a treatment combining Gefitinib and Capmatinib, a MET inhibitor, induced a rapid response in the patient, which was sustained at the end of 8 months. This clearly emphasizes the need for comprehensive genomic profiling using NGS over single gene testing.

scholarly journals Micro-costing diagnostics in oncology: from single-gene testing to whole genome sequencing

2021 ◽  
Author(s):  
Clémence TB Pasmans ◽  
Bastiaan BJ Tops ◽  
Elisabeth MP Steeghs ◽  
Veerle MH Coupé ◽  
Katrien Grünberg ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Single Gene ◽  
Whole Genome ◽  
Gene Testing
Sign in / Sign up

Export Citation Format

Share Document