Personalized medicine最新文献

In the context of cancer heterogeneity, the synergistic action of next-generation sequencing (NGS) and CRISPR/Cas9 plays a promising role in the personalized treatment of cancer. NGS enables high-throughput genomic profiling of tumors and pinpoints specific mutations that primarily lead to cancer. Oncologists use this information obtained from NGS in the form of DNA profiling or RNA analysis to tailor precision strategies based on an individual's unique molecular signature. Furthermore, the CRISPR technique enables precise editing of cancer-specific mutations, allowing targeted gene modifications. Harnessing the potential insights of NGS and CRISPR/Cas9 heralds a remarkable frontier in cancer therapeutics with unprecedented precision, effectiveness and minimal off-target effects.

Aim: MIR137 host gene (MIR137HG) variants were involved in a variety of diseases, but its role in high-altitude pulmonary edema (HAPE) has not been reported. The study aimed to study the association between MIR137HG single-nucleotide polymorphisms and HAPE risk in the Chinese population.Materials & methods: Based on the Plink software, odds ratio and 95% confidence interval were used for logistic regression analysis to evaluate the association between MIR137HG polymorphisms and the risk of HAPE.Results: We discovered that MIR137HG rs7554283 was associated with a reduced risk of HAPE. In both individuals older than 32 years and those younger than 32 years, we observed that rs7554283 was associated with a decreased risk of HAPE.Conclusion: In conclusion, MIR137HG rs7554283 may be related to a reduced susceptibility to HAPE in the Chinese population. These results provide a theoretical basis for the role of MIR137HG single-nucleotide polymorphisms in the occurrence of HAPE.

Gynecological malignancies are one of the main causes of cancer-induced mortality. Despite remarkable recent therapeutic advances, current therapeutic options are not sufficient. Regarding the effect of long noncoding RNAs (lncRNAs) on cell differentiation, proliferation and apoptosis, variations in their expression cause different anomalies, such as tumorigenesis. SNPs influence lncRNA function and expression. LncRNA polymorphisms can predict cancer risk and are effective for early diagnosis and customized therapy. In this literature review, we comprehensively investigate the effect of lncRNA polymorphisms on gynecological cancers. LncRNA-related variants are proposed to evaluate cancer incidence, early detection and management of personalized therapy. Nonetheless, more studies are required to validate the consistency of current findings in numerous samples and across various ethnic groups.

Aim: Vancomycin, a crucial treatment for Gram-positive bacteria, necessitates therapeutic drug monitoring (TDM) to prevent treatment failures. We investigated the healthcare professional's compliance toward TDM of vancomycin recommendations and follow-up levels. Materials & methods: We collected data from 485 patients who received vancomycin in the Children's Cancer Hospital Egypt 57357 medical records system (Cerner) over 4 months, from January to April 2020. Results: Our data shows that only 54% of patients had TDM requests from healthcare professionals for the total patients who received vancomycin treatment. The healthcare professionals' compliance with the recommendations was 91.7%, while the follow-up levels were 66.7%. Conclusion: While overall adherence to recommendations is strong, enhancing compliance with follow-up levels remains a priority for improvement.

Aims: To report the distribution of allele frequencies of CYP2D6 gene and to evaluate their influence on the clinical outcomes of a group of breast cancer patients receiving adjuvant tamoxifen treatment from Uruguay. Patients & methods: 199 samples were genotyped through real-time polymerase chain reaction assays. Metabolization profiles were inferred from the genotypes. Correlations were evaluated using Pearson's χ² test. Results: Phenotype frequencies were 0.65 normal (NM), 0.30 intermediate (IM) and 0.05 poor metabolizers (PM). Similar clinical outcomes between NM and (PM + IM) patient groups (odds ratio = 1.011, 95% CI = 0.2703-3.7826; p = 0.987) were found. Conclusion: CYP2D6 allele frequencies were analyzed for the first time in a cohort from Uruguay. Results did not support any impact of CYP2D6 gene polymorphisms on clinical outcomes.

Background: Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. Materials & methods: In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases. Results: A total of 13 single-gene fetuses were confirmed, including Noonan and Costello syndromes, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and Apert syndrome. Two novel variants seen were tuberous sclerosis complex (TSC2 c.4154G>A) and Alagille syndrome (JAG1 c.3452del). Conclusion: NIPT-SGG and standard tests agree on the results for 13 fetuses with monogenic disorders. This panel method of screening can benefit high-risk Vietnamese pregnancies, but further research is encouraged to expand on the causative gene panel.

Background: Genetic polymorphism can affect the response to antiviral therapy of chronic hepatitis B (CHB) patients. Objective: The study examined the genetic association of the IL-6 rs1800796 polymorphism with PEGylated IFN-α (PegIFN-α) treatment response in hepatitis B surface antigen (HBsAg)-positive CHB patients. Methods: Direct sequencing was done for the genotyping of the rs1800796 polymorphism in the serum of CHB patients. Results: More patients with combined response (n = 95) carried IL-6 rs1800796 GC genotypes, while CC genotype carriers possessed reduced HBeAg seroconversion rate and high values of hepatitis B virus DNA. Baseline HBsAg and HBeAg and IL-6 rs1800796 CC genotype were independently related to PegIFN-α treatment response. Conclusion: Detection of the IL-6 rs1800796 genotype in CHB patients may have potential guiding significance for PegIFN-α response.

Lung cancer (LC) imposes a significant burden, and is associated with high mortality and morbidity among malignant tumors. Aberrant expression of particular lncRNAs is closely linked to LC. LncRNA polymorphisms cause abnormal expression levels and/or structural dysfunction. They can affect the progression of cancer, survival, response to chemotherapy and recurrence rates in cancer patients. The present article provides a comprehensive overview of the effect of lncRNA genetic polymorphisms on LC. It is proposed that lncRNA-related variants can be used to predict cancer risk and therapeutic outcomes. More large-scale trials on diverse ethnic groups are required to validate the results, thus personalizing LC therapy based on lncRNA genotypes.

Background: This study analyzed real-world data from 2004 to 2023 to evaluate the toxicity profile of tyrosine receptor kinase (TRK) inhibitor therapy. Method: A retrospective analysis of US FDA Adverse Event Reporting System data was conducted to identify adverse events in patients receiving TRK inhibitor therapy. Result: Entrectinib demonstrated toxicities primarily in the cardiovascular and nervous systems, followed by the renal and urinary system. Common adverse effects included dizziness, renal impairment, constipation, heart failure and taste disorders. Larotrectinib induced adverse events mainly in the hepatobiliary and nervous systems, with peripheral neuropathy, myalgia, renal impairment and increased alanine aminotransferase commonly reported. Conclusion: Careful monitoring and supportive care strategies are essential for managing adverse events associated with TRK inhibitor therapy.

Background: To describe the indications and outcomes of BRCA mutation carriers undergoing nipple-sparing mastectomy (NSM). Methods: In this retrospective study, 76 BRCA mutation carriers with no cancer who opted to undergo risk reduction NSM or diagnosed with breast cancer (BC) who opted to undergo therapeutic NSM were included. Results: Indications for NSM: cancer treatment (n = 33), bilateral risk reduction (n = 39) and contralateral prophylactic NSM (n = 4). In a mean follow-up of 45 months (median: 30 months), one patient (2.5%) undergoing risk-reducing NSM developed a new BC. One (3%) local, one (3%) ipsilateral axillary and one (3%) distant recurrence were observed in BC patients. No partial or total nipple necrosis occurred. Conclusion: NSM is safe for reducing the risk of BC development in BRCA mutation carriers and for treating cancer.