{"title":"Association between <i>PRNCR1</i>, <i>PAX8AS1</i>, <i>MEG3</i>, and <i>PTENP1</i> gene polymorphisms and breast cancer risk.","authors":"Anoosha Asadi, Fatemeh Barati, Alireza Nakhaee, Danial Jahantigh, Seyed-Mehdi Hashemi, Mohsen Taheri, Gholamreza Bahari","doi":"10.1080/17410541.2024.2435800","DOIUrl":"10.1080/17410541.2024.2435800","url":null,"abstract":"<p><strong>Aim: </strong>In this study, we examined the polymorphisms of <i>PRNCR1</i> (rs13252298, rs1456315), <i>PAX8-AS1</i> (rs4848320) <i>MEG3</i> (rs7158663), <i>PTENP1</i> (rs7853346) genes in BC patients and compared it with healthy individuals in an Iranian population.</p><p><strong>Method: </strong>The assessment of genetic polymorphisms was conducted using PCR - RFLP and PCR-Tetra ARMS methods.</p><p><strong>Results & conclusion: </strong>The results showed that Codominant, Dominant and G allele of rs13252298 polymorphism and Dominant of rs1456315 polymorphism are correlated with increased risk of BC. The CT and TT genotype and Dominant and T allele of rs4848320 polymorphism is also a risk factor in the study population. The genotype AA, dominant, recessive and A allele of rs7158663 polymorphism and also CC genotype of rs7853346 polymorphism increase the risk of BC.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"373-383"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142788279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Personalized medicinePub Date : 2024-01-01Epub Date: 2024-01-26DOI: 10.2217/pme-2023-0137
Carlen A Yuen, Silin Bao, Mya Sandi Aung, Rhea Shishodia, Xiao-Tang Kong
{"title":"Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report.","authors":"Carlen A Yuen, Silin Bao, Mya Sandi Aung, Rhea Shishodia, Xiao-Tang Kong","doi":"10.2217/pme-2023-0137","DOIUrl":"10.2217/pme-2023-0137","url":null,"abstract":"<p><p>Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans cell CD68<sup>+</sup> CD1a<sup>-</sup> S100<sup>-</sup> histiocytic multi-organ disease. Diagnosis of ECD is often delayed due to non-specific radiographic findings and heterogeneous lesional tissue. Increasingly, the role of genomic alterations is being recognized for both diagnosis and treatment of ECD. More than half of ECD patients harbor the <i>BRAF<sup>V600E</sup></i> mutation. Evaluation for this mutation be can falsely negative on immunohistochemical staining and confirmation with molecular analyses is recommended. We present a case of the 44 year-old male with <i>BRAF</i><sup><i>V600E</i></sup>-positive ECD treated successfully with steroids followed by single-agent dabrafenib.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"71-78"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Personalized medicinePub Date : 2024-01-01Epub Date: 2024-02-21DOI: 10.2217/pme-2023-0106
Shahariar Mohammed Fahim, Salisa C Westrick, Jingjing Qian, Surachat Ngorsuraches, Courtney S Watts Alexander, Kimberly Braxton Lloyd, Natalie S Hohmann
{"title":"A survey on awareness, knowledge and preferences toward genetic testing among the United States general public.","authors":"Shahariar Mohammed Fahim, Salisa C Westrick, Jingjing Qian, Surachat Ngorsuraches, Courtney S Watts Alexander, Kimberly Braxton Lloyd, Natalie S Hohmann","doi":"10.2217/pme-2023-0106","DOIUrl":"10.2217/pme-2023-0106","url":null,"abstract":"<p><p><b>Aim:</b> To understand awareness, knowledge and preferences regarding genetic testing among the USA general public. <b>Methods:</b> A cross-sectional online survey using a Qualtrics Panel. <b>Results:</b> Among 1600 respondents, 545 (34%) were White, 411 (26%) Black, 412 (26%) Hispanic or Latin(x) and 232 (15%) Asian. Most had heard of ancestry testing (87%) and genetic health risk testing (69%), but a third thought inherited genes were only a little or not at all responsible for obesity (36%) and mental health (33%). The majority preferred pre-emptive pharmacogenetic testing (n = 74%) compared with reactive testing. Statistically significant differences between racial/ethnic groups and rural-urban respondents were observed. <b>Conclusion:</b> Most preferred pre-emptive pharmacogenetic testing; however, about one-quarter preferred reactive testing. Preferences should be discussed during patient-clinician interactions.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"117-129"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139914371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The prognostic potential of long noncoding RNA XIST in cardiovascular diseases: a review.","authors":"Habib Haybar, Ehsan Sarbazjoda, Daryush Purrahman, Mohammad Reza Mahmoudian-Sani, Najmaldin Saki","doi":"10.1080/17410541.2024.2360380","DOIUrl":"10.1080/17410541.2024.2360380","url":null,"abstract":"<p><p>There is a significant mortality rate associated with cardiovascular disease despite advances in treatment. long Non-coding RNAs (lncRNAs) play a critical role in many biological processes and their dysregulation is associated with a wide range of diseases in which their downstream pathways are disrupted. A lncRNA X-inactive specific transcript (XIST) is well known as a factor that regulates the physiological process of chromosome dosage compensation for females. According to recent studies, lncRNA XIST is involved in a variety of cellular processes, including apoptosis, proliferation, invasion, metastasis, oxidative stress and inflammation, through molecular networks with microRNAs and their downstream targets in neoplastic and non-neoplastic diseases. Because these cellular processes play a role in the pathogenesis of cardiovascular diseases, we aim to investigate the role that lncRNA XIST plays in this process. Additionally, we wish to determine whether it is a prognostic factor or a potential therapeutic target in these diseases.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"257-269"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141422364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Personalized medicinePub Date : 2024-01-01Epub Date: 2024-06-28DOI: 10.1080/17410541.2024.2365616
Salvador Cabrera Figueroa, Diego Salazar Pincheira, Claudio Bustos Navarrete, Juan Hermosilla Panés, Sergio Mella Montecinos, Leonila Ferreira Cabrera
{"title":"Usefulness of vancomycin treatment individualization via Bayesian algorithms: a 5-year study in critical patients.","authors":"Salvador Cabrera Figueroa, Diego Salazar Pincheira, Claudio Bustos Navarrete, Juan Hermosilla Panés, Sergio Mella Montecinos, Leonila Ferreira Cabrera","doi":"10.1080/17410541.2024.2365616","DOIUrl":"10.1080/17410541.2024.2365616","url":null,"abstract":"<p><p><b>Aim:</b> Compare two vancomycin dosing strategies in critical patients with methicillin-resistant <i>Staphylococcus aureus</i> (MRSA) infections, considering the heterogeneity of the dosing regimens administered and their implications for toxicity and efficacy. <b>Materials & methods:</b> Longitudinal retrospective observational study in two patient cohorts (standard dosing vs dosing via Bayesian algorithms). <b>Results:</b> The group of Bayesian algorithms received substantially higher and significantly heterogeneous doses, with an absence of nephrotoxicity. The speed of decrease observed in CRP and PCT was greater for the Bayesian strategy (p = 0.045 and 0.0009, respectively). <b>Conclusion:</b> Applying Bayesian algorithms to vancomycin dosage individualization allows for administering much higher doses than with standard regimens, facilitating a quicker clinical response in the absence of nephrotoxicity.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"243-255"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141474156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Personalized medicinePub Date : 2024-01-01Epub Date: 2024-11-20DOI: 10.1080/17410541.2024.2423601
Zeni Kharel, Sarah Stanford, Lauryn E Hemminger, Tyler Schmidt, Sara J Hardy, Jason Zittel, Nimish A Mohile, Ajay Dhakal
{"title":"Efficacy of trastuzumab deruxtecan in treating HER2-low breast cancer leptomeningeal metastasis: a case report.","authors":"Zeni Kharel, Sarah Stanford, Lauryn E Hemminger, Tyler Schmidt, Sara J Hardy, Jason Zittel, Nimish A Mohile, Ajay Dhakal","doi":"10.1080/17410541.2024.2423601","DOIUrl":"10.1080/17410541.2024.2423601","url":null,"abstract":"<p><p><b>accepted at SABCS 2023, poster presented at SABCS 2023</b>We report the efficacy of trastuzumab deruxtecan (T-DXd) in treating human epidermal growth factor receptor 2 (HER2) low, type ID leptomeningeal breast cancer (LMD) (with positive cerebrospinal fluid [CSF] cytology and hydrocephalus as the only abnormal imaging finding) and the diagnostic and monitoring utilization of a novel microfluidic platform called CNSide™. Breast cancer LMD is associated with poor prognosis, and effective treatments are lacking. Our case highlights two crucial aspects related to the treatment and monitoring of breast cancer LMD. First, T-DXd was chosen based on immunocytochemistry (IHC) data from CSF malignant cells and follow-up revealed effectiveness of T-DXd in treating HER2-low LMD. While the efficacy of T-DXd has been established in treating metastatic HER2-low breast cancer, our case represents, to our knowledge, the first demonstration of T-DXd's effectiveness in HER2-low breast cancer LMD. Second, since this is type 1D LMD with absence of unequivocal measurable radiological disease in both the central nervous system (CNS) and extra-CNS, we employed a novel microfluidic CSF assay to monitor disease response. This novel assay outperformed standard CSF cytology in our case. There is an urgent need to develop CSF tumor cell assessment tool that surpasses the capabilities of conventional CSF cytology.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"335-339"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142678138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Personalized medicinePub Date : 2024-01-01Epub Date: 2023-12-13DOI: 10.2217/pme-2023-0111
Figen Çelebi Çelik, Özgen Soyöz, Selime Özen Bölük, İlke Taşkırdı, İdil Akay Hacı, Mehmet Şirin Kaya, Ayça Demir, Berna Uzunoğlu, Ayşen Türedi Yıldırım, Hüseyin Onay, Salih Gözmen, Nesrin Gülez, Ferah Genel
{"title":"Successful management of delayed-onset adenosine deaminase deficiency with novel mutation.","authors":"Figen Çelebi Çelik, Özgen Soyöz, Selime Özen Bölük, İlke Taşkırdı, İdil Akay Hacı, Mehmet Şirin Kaya, Ayça Demir, Berna Uzunoğlu, Ayşen Türedi Yıldırım, Hüseyin Onay, Salih Gözmen, Nesrin Gülez, Ferah Genel","doi":"10.2217/pme-2023-0111","DOIUrl":"10.2217/pme-2023-0111","url":null,"abstract":"<p><p>A 4-year-old boy presented with acute-onset autoimmune cytopenia with severe, persistent lymphopenia, autoimmune thyroiditis, elevated IgE and glucose 6-phosphate dehydrogenase enzyme deficiency. In immunologic evaluation, lower T, B and natural killer cells and higher levels of adenosine deaminase (ADA) metabolites were observed. The compound heterozygous novel <i>ADA</i> gene mutations causing ADA deficiency were detected. Successful immunologic and metabolic cure was achieved with enzyme replacement therapy, followed by reduced intensity conditioning hematopoietic stem cell transplantation from a matched unrelated donor. An interesting aspect of this patient is the detection of novel compound heterozygous mutations without consanguinity and a secondary outcome is the recovery of glucose 6-phosphate dehydrogenase deficiency after hematopoietic stem cell transplantation.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"11-19"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138816095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Revolutionizing personalized cancer treatment: the synergy of next-generation sequencing and CRISPR/Cas9.","authors":"Muniba Mahmood, Izza Taufiq, Sana Mazhar, Faiqa Hafeez, Kausar Malik, Samia Afzal","doi":"10.1080/17410541.2024.2341610","DOIUrl":"10.1080/17410541.2024.2341610","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"175-190"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140869108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The rs2275738 variant of the adiponectin receptor 1 gene is associated with biopsy-proven nonalcoholic fatty liver disease.","authors":"Mitra Rostami, Touraj Mahmoudi, Abbas Ardalani, Amirhesam Mashaollahi, Nikta Zafarjafarzadeh, Aidin Mahban, Kosar Babaeian Roshani, Fatemeh Ghasemi, Zahra Ourang, Atefeh Dehghanitafti, Helia Sadat Kaboli, Gholamreza Rezamand, Asadollah Asadi, Reza Dabiri, Hossein Nobakht, Seidamir Pasha Tabaeian, Mohammad Reza Zali","doi":"10.1080/17410541.2024.2413354","DOIUrl":"10.1080/17410541.2024.2413354","url":null,"abstract":"<p><p><b>Aim:</b> Nonalcoholic fatty liver disease (NAFLD) is a significant health issue worldwide. This study investigated the effect of the adiponectin receptor 1 gene (<i>ADIPOR1</i>) polymorphism on susceptibility to NAFLD.<b>Methods:</b> Data from 330 participants, including 165 biopsy-proven NAFLD patients and 165 healthy controls, were collected. The PCR-RFLP method was used to detect the genotypes of <i>ADIPOR1</i> rs2275738 or T-106C variant.<b>Results:</b> The \"CC\" genotype of the <i>ADIPOR1</i> rs2275738 polymorphism, compared with the \"TT\" genotype and the \"C\" allele, compared with the \"T\" allele, are markers of increased NAFLD susceptibility (<i>p</i> = 0.018; OR = 2.07, 95% CI = 1.43-2.01 and <i>p</i> = 0.041; OR = 1.52, 95% CI = 1.24-2.35, respectively).<b>Conclusion:</b> This research suggests, for the first time, that the <i>ADIPOR1</i> rs2275738 \"CC\" genotype is associated with a 107% increased risk for biopsy-proven NAFLD.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"367-372"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142524010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Impact of <i>MIR137HG</i> rs7554283 on susceptibility to high-altitude pulmonary edema in the Chinese population.","authors":"Shilin Xu, Xuemei Li, Xuguang Li, Ruixiao Ma, Hengxun Zhang, Baoping Hu, Xue He, Tianbo Jin","doi":"10.1080/17410541.2024.2406738","DOIUrl":"10.1080/17410541.2024.2406738","url":null,"abstract":"<p><p><b>Aim:</b> 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.<b>Materials & methods:</b> 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.<b>Results:</b> 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.<b>Conclusion:</b> 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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"295-302"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}