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Usefulness of vancomycin treatment individualization via Bayesian algorithms: a 5-year study in critical patients. 通过贝叶斯算法进行万古霉素个体化治疗的实用性：对危重病人进行的为期 5 年的研究。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-06-28 DOI: 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}
引用次数: 0
Efficacy of trastuzumab deruxtecan in treating HER2-low breast cancer leptomeningeal metastasis: a case report. 曲妥珠单抗德鲁司康治疗 HER2 低乳腺癌脑转移瘤的疗效：病例报告。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-11-20 DOI: 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}
引用次数: 0
Successful management of delayed-onset adenosine deaminase deficiency with novel mutation. 成功治疗新型突变的迟发型腺苷脱氨酶缺乏症。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-13 DOI: 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}
引用次数: 0
Revolutionizing personalized cancer treatment: the synergy of next-generation sequencing and CRISPR/Cas9. 革命性的个性化癌症治疗：下一代测序与 CRISPR/Cas9 的协同作用。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-05-06 DOI: 10.1080/17410541.2024.2341610
Muniba Mahmood, Izza Taufiq, Sana Mazhar, Faiqa Hafeez, Kausar Malik, Samia Afzal
{"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}
引用次数: 0
The rs2275738 variant of the adiponectin receptor 1 gene is associated with biopsy-proven nonalcoholic fatty liver disease. 脂肪素受体 1 基因的 rs2275738 变体与活检证实的非酒精性脂肪肝有关。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-10-29 DOI: 10.1080/17410541.2024.2413354
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
{"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}
引用次数: 0
Impact of MIR137HG rs7554283 on susceptibility to high-altitude pulmonary edema in the Chinese population. MIR137HG rs7554283 对中国人群高海拔肺水肿易感性的影响
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-10-22 DOI: 10.1080/17410541.2024.2406738
Shilin Xu, Xuemei Li, Xuguang Li, Ruixiao Ma, Hengxun Zhang, Baoping Hu, Xue He, Tianbo Jin
{"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}
引用次数: 0
Long noncoding RNA polymorphisms in gynecological cancers. 妇科癌症中的长非编码 RNA 多态性。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-14 DOI: 10.2217/pme-2023-0082
Esmat Abdi, Saeid Latifi-Navid, Alireza Panahi
{"title":"Long noncoding RNA polymorphisms in gynecological cancers.","authors":"Esmat Abdi, Saeid Latifi-Navid, Alireza Panahi","doi":"10.2217/pme-2023-0082","DOIUrl":"10.2217/pme-2023-0082","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"59-68"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138816078","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}
引用次数: 0
Optimizing vancomycin therapeutic drug monitoring compliance in pediatric oncology: towards personalized medication management. 优化万古霉素治疗药物监测在儿科肿瘤中的依从性：实现个性化用药管理。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-07-04 DOI: 10.1080/17410541.2024.2360386
Rewan Gamal Mohamed, Rania Saber, Mohamed Ali Hussein, Amira Shalaby, Nouran Yasser, Sherif Kamal, Lobna Shalaby, Mohamed Nagy
{"title":"Optimizing vancomycin therapeutic drug monitoring compliance in pediatric oncology: towards personalized medication management.","authors":"Rewan Gamal Mohamed, Rania Saber, Mohamed Ali Hussein, Amira Shalaby, Nouran Yasser, Sherif Kamal, Lobna Shalaby, Mohamed Nagy","doi":"10.1080/17410541.2024.2360386","DOIUrl":"10.1080/17410541.2024.2360386","url":null,"abstract":"<p><p><b>Aim:</b> 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. <b>Materials & methods:</b> 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. <b>Results:</b> 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%. <b>Conclusion:</b> While overall adherence to recommendations is strong, enhancing compliance with follow-up levels remains a priority for improvement.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"211-218"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141500045","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}
引用次数: 0
CYP2D6 genotyping and the clinical impact on outcomes in breast cancer tamoxifen-treated patients. CYP2D6基因分型及其对癌症他莫昔芬治疗患者预后的临床影响。
Personalized medicine Pub Date : 2023-11-01 Epub Date: 2023-11-10 DOI: 10.2217/pme-2023-0063
Gabriel Ramírez, Marcelo Vital, Carolina Vergara, Florencia Carusso, Florencia Neffa, Adriana Della Valle, Patricia Esperón
{"title":"<i>CYP2D6</i> genotyping and the clinical impact on outcomes in breast cancer tamoxifen-treated patients.","authors":"Gabriel Ramírez, Marcelo Vital, Carolina Vergara, Florencia Carusso, Florencia Neffa, Adriana Della Valle, Patricia Esperón","doi":"10.2217/pme-2023-0063","DOIUrl":"10.2217/pme-2023-0063","url":null,"abstract":"<p><p><b>Aims:</b> To report the distribution of allele frequencies of <i>CYP2D6</i> gene and to evaluate their influence on the clinical outcomes of a group of breast cancer patients receiving adjuvant tamoxifen treatment from Uruguay. <b>Patients & methods:</b> 199 samples were genotyped through real-time polymerase chain reaction assays. Metabolization profiles were inferred from the genotypes. Correlations were evaluated using Pearson's χ<sup>2</sup> test. <b>Results:</b> 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. <b>Conclusion:</b> CYP2D6 allele frequencies were analyzed for the first time in a cohort from Uruguay. Results did not support any impact of <i>CYP2D6</i> gene polymorphisms on clinical outcomes.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"477-483"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72016605","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}
引用次数: 0
De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series. 非侵入性产前检测在越南发现的显性单基因疾病的新变异：一个病例系列。
Personalized medicine Pub Date : 2023-11-01 Epub Date: 2023-11-08 DOI: 10.2217/pme-2023-0105
Nhat-Thang Tran, Son Ta Vo, Duy-Anh Nguyen, Canh-Chuong Nguyen, Linh Thuy Dinh, Minh-Thu Thi Tran, Danh-Cuong Tran, Lan-Anh Thi Luong, Kim-Phuong Doan, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Linh-Giang Thi Truong, Phuong Thi-Mai Cao, Vy Thi-Nhat Tran, Thu Huong Nhut Trinh, Quang Thanh Le, Van Thong Nguyen, Diem-Tuyet Thi Hoang, My-Nhi Ba Nguyen, Chi-Thuong Bui, Son-Tra Thi Tran, Duc-Tam Lam, Hong-Thinh Le, My-Ngoc Ba Nguyen, Viet-Thang Ho, Minh-Trung Nguyen, Trang Thi Dao, Phuong Minh Nguyen, Thu-Hang Le Nguyen, Nhung Phuong Ha, Y-Thanh Lu, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Hoa Giang, Hung-Sang Tang
{"title":"<i>De novo</i> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.","authors":"Nhat-Thang Tran, Son Ta Vo, Duy-Anh Nguyen, Canh-Chuong Nguyen, Linh Thuy Dinh, Minh-Thu Thi Tran, Danh-Cuong Tran, Lan-Anh Thi Luong, Kim-Phuong Doan, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Linh-Giang Thi Truong, Phuong Thi-Mai Cao, Vy Thi-Nhat Tran, Thu Huong Nhut Trinh, Quang Thanh Le, Van Thong Nguyen, Diem-Tuyet Thi Hoang, My-Nhi Ba Nguyen, Chi-Thuong Bui, Son-Tra Thi Tran, Duc-Tam Lam, Hong-Thinh Le, My-Ngoc Ba Nguyen, Viet-Thang Ho, Minh-Trung Nguyen, Trang Thi Dao, Phuong Minh Nguyen, Thu-Hang Le Nguyen, Nhung Phuong Ha, Y-Thanh Lu, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Hoa Giang, Hung-Sang Tang","doi":"10.2217/pme-2023-0105","DOIUrl":"10.2217/pme-2023-0105","url":null,"abstract":"<p><p><b>Background:</b> 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. <b>Materials & methods:</b> 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. <b>Results:</b> 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 (<i>TSC2</i> c.4154G>A) and Alagille syndrome (<i>JAG1</i> c.3452del). <b>Conclusion:</b> 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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"467-475"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71490685","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}
引用次数: 0
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