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Development of a computer-based tool to obtain a family health history in Vietnam. 开发基于计算机的工具，用于在越南获取家庭健康史。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-09-04 DOI: 10.1080/17410541.2024.2391728
Linh Ba Tieu, Vinh Nhu Nguyen, Phu Gia Tran, Hieu Minh Truong, Tuyet-Lan Thi Nguyen, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Nguyen Huu Nguyen, Y-Thanh Lu, Huong-Thao Xuan Tran, Quynh-Tho Thi Nguyen, Quynh Nhat Nguyen, Toan Thanh Le, Viet Hoang Truong, Minh Binh Bui, Dinh-Kiet Truong, Thanh-Thuy Thi Do, Hoai-Nghia Nguyen, Dieu Chan Quan, Hung-Sang Tang
{"title":"Development of a computer-based tool to obtain a family health history in Vietnam.","authors":"Linh Ba Tieu, Vinh Nhu Nguyen, Phu Gia Tran, Hieu Minh Truong, Tuyet-Lan Thi Nguyen, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Nguyen Huu Nguyen, Y-Thanh Lu, Huong-Thao Xuan Tran, Quynh-Tho Thi Nguyen, Quynh Nhat Nguyen, Toan Thanh Le, Viet Hoang Truong, Minh Binh Bui, Dinh-Kiet Truong, Thanh-Thuy Thi Do, Hoai-Nghia Nguyen, Dieu Chan Quan, Hung-Sang Tang","doi":"10.1080/17410541.2024.2391728","DOIUrl":"10.1080/17410541.2024.2391728","url":null,"abstract":"<p><p><b>Background:</b> Family health history (FHH) is central to human genomic profiling construction; however, there is no protocol for documenting FHH in a pedigree format in Vietnam.<b>Aim:</b> A \"Gia Su Suc Khoe\" (GSSK) tool was developed to create a user-friendly interface for collecting FHH and offering diseases' risk assessment.<b>Results:</b> A tool was described (https://giasusuckhoe.vn/) with good feedback from genetic counselors and family-medicine doctors. Among 20 surveys, 100% of respondents noted that the report accurately reflected their FHH and were satisfied with the tool's display. About 74% of familial conditions were covered. Overall, all constructive feedback has been adapted into the updated version.<b>Conclusion:</b> Gia Su Suc Khoe has the potential to significantly improve healthcare delivery and outcomes in Vietnam.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"271-276"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127779","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 and tolerability of capmatinib in a very elderly patient with metastatic NSCLC harboring a MET exon 14 mutation. 卡马替尼对一名携带 MET 第 14 号外显子突变的高龄转移性 NSCLC 患者的疗效和耐受性。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-07-03 DOI: 10.1080/17410541.2024.2369493
Nicole Conci, Virginia Marchiori, Alessandro Di Federico, Andrea De Giglio, Francesca Sperandi, Barbara Melotti, Francesco Gelsomino
{"title":"Efficacy and tolerability of capmatinib in a very elderly patient with metastatic NSCLC harboring a <i>MET</i> exon 14 mutation.","authors":"Nicole Conci, Virginia Marchiori, Alessandro Di Federico, Andrea De Giglio, Francesca Sperandi, Barbara Melotti, Francesco Gelsomino","doi":"10.1080/17410541.2024.2369493","DOIUrl":"10.1080/17410541.2024.2369493","url":null,"abstract":"<p><p>We report the case of an 87-year-old female patient who was diagnosed with metastatic non-small-cell lung cancer harboring <i>MET</i> exon 14 skipping mutation (<i>MET</i> ex14) and PD-L1 expression of 60%. A first-line treatment with atezolizumab was started with primary resistance. Then, a second-line treatment with capmatinib, a selective type Ib MET tyrosine kinase inhibitor, was started, achieving a partial response. The patient is still alive and on treatment with capmatinib 300 mg twice daily after 20 months, with a good tolerability and no evidence of disease progression.In summary, our patient experienced a long-lasting response (>18 months) with capmatinib as second-line treatment. Further analyses evaluating the efficacy and tolerability of MET tyrosine kinase inhibitors are warranted, especially in the elderly, a non-small-cell lung cancer population whose tumors could more frequently harbor <i>MET</i> ex14 mutation.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"205-209"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494659","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
Gene expression profiling of peripheral blood in patients with steroid-induced osteonecrosis of the femoral head. 类固醇诱发的股骨头坏死患者外周血基因表达谱分析。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-03-19 DOI: 10.2217/pme-2023-0102
Cong-Min Zhang, Yuan Wei, Xue-Ke Tian, Kai-Di Ren, Jing Yang
{"title":"Gene expression profiling of peripheral blood in patients with steroid-induced osteonecrosis of the femoral head.","authors":"Cong-Min Zhang, Yuan Wei, Xue-Ke Tian, Kai-Di Ren, Jing Yang","doi":"10.2217/pme-2023-0102","DOIUrl":"10.2217/pme-2023-0102","url":null,"abstract":"<p><p><b>Aim:</b> Steroid-induced osteonecrosis of the femoral head (SONFH) is a severe complication following glucocorticoid therapy. This study aimed to identify the differential mRNA expression and investigate the molecular mechanisms of SONFH. <b>Materials & methods:</b> RNA sequencing was performed in eight SONFH patients, five non-SONFH patients and five healthy individuals. <b>Results:</b> A total of 1555, 3997 and 5276 differentially expressed mRNAs existed between the following combinations: SONFH versus non-SONFH, SONFH versus healthy subjects and non-SONFH versus healthy subjects. Increased <i>ISM1</i> expression might contribute to a high risk of SONFH through antiangiogenesis. Decreased <i>FOLR3</i> expression might affect the metabolism of homocysteine, leading to avascular necrosis of the femoral head. <i>KCNJ2</i>, which plays a pivotal role in regulating bone development, was also deregulated. <b>Conclusion:</b> <i>ISM1</i>, <i>FOLR3</i> and <i>KCNJ2</i> might be related to the occurrence of SONFH.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"89-102"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140159808","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
European survey: citizens' attitudes on personalized medicine, genetic testing and health data sharing - design and delivery. 欧洲调查：公民对个性化医疗、基因检测和健康数据共享的态度--设计与交付。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-07-04 DOI: 10.1080/17410541.2024.2342770
Francesco Andrea Causio, Flavia Beccia, Loes Lindiwe Kreeftenberg, Giovanna Elisa Calabrò, Roberta Pastorino, Stefania Boccia, Carla van El
{"title":"European survey: citizens' attitudes on personalized medicine, genetic testing and health data sharing - design and delivery.","authors":"Francesco Andrea Causio, Flavia Beccia, Loes Lindiwe Kreeftenberg, Giovanna Elisa Calabrò, Roberta Pastorino, Stefania Boccia, Carla van El","doi":"10.1080/17410541.2024.2342770","DOIUrl":"10.1080/17410541.2024.2342770","url":null,"abstract":"<p><p>In the transformative landscape of healthcare, personalized medicine emerges as a pivotal shift, harnessing genetic, environmental and lifestyle data to tailor medical treatments for enhanced outcomes and cost efficiency. Central to its success is public engagement and consent to share health data amidst rising data privacy concerns. To investigate European public opinion on this paradigm, we executed a comprehensive cross-sectional survey to capture the general public's views on personalized medicine and data-sharing modalities, including digital tools and electronic records. The survey was distributed in eight major European Union countries and the results aim at guiding future policymaking and trust-building measures for secure health data exchange. This article delineates our methodological approach, whereby survey findings will be expounded in subsequent publications.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"163-166"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141500044","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
Association between IL-6, miRNA-146a, MALAT1 genetic polymorphisms and risk of rheumatoid arthritis. IL-6、miRNA-146a、MALAT1 基因多态性与类风湿性关节炎风险之间的关系。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-09-12 DOI: 10.1080/17410541.2024.2393072
Yasser Bm Ali, Noura Ma Hasan, Eman A El-Maadawy, Iman H Bassyouni, Mohamed El-Shahat, Roba M Talaat
{"title":"Association between IL-6, miRNA-146a, MALAT1 genetic polymorphisms and risk of rheumatoid arthritis.","authors":"Yasser Bm Ali, Noura Ma Hasan, Eman A El-Maadawy, Iman H Bassyouni, Mohamed El-Shahat, Roba M Talaat","doi":"10.1080/17410541.2024.2393072","DOIUrl":"10.1080/17410541.2024.2393072","url":null,"abstract":"<p><p><b>Aim:</b> This study aimed to investigate the associations between single nucleotide polymorphisms (SNPs) of <i>IL-6</i> (-174G/C), <i>microRNA146a</i> (rs2910164C/G) and <i>MALAT1</i> (rs619586A/G) and susceptibility to rheumatoid arthritis (RA) in Egyptians.<b>Methods:</b> SNPs were genotyped in 101 RA patients and 104 controls. Expression levels were evaluated either by Enzyme-linked immunosorbent assay (ELISA) for IL-6 or quantitative real-time PCR (qRT-PCR) for miR-146a and MALAT1.<b>Results:</b> <i>IL-6-174</i> GC (OR = 3.422) genotype, IL-6-174 C allele (OR = 2.565), miR-146a (rs2910164) CG (OR = 2.190) and MALAT1 (rs619586) AA (OR = 4.125) genotypes and A allele (OR = 6.122) could be considered as risk factors for RA. An increase in the expression of IL-6, miR-146a and MALAT1 was detected in RA patients, which was independent of any SNP.<b>Conclusion:</b> SNPs of IL-6, miR-146a and MALAT1were linked to RA predisposition in Egyptians.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"277-294"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305118","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
Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report. 达拉非尼和类固醇治疗中枢神经系统广泛受累的埃尔德海姆-切斯特病：病例报告。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-01-26 DOI: 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}
引用次数: 0
A survey on awareness, knowledge and preferences toward genetic testing among the United States general public. 关于美国公众对基因检测的认识、了解和偏好的调查。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-02-21 DOI: 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}
引用次数: 0
The prognostic potential of long noncoding RNA XIST in cardiovascular diseases: a review. 长非编码 RNA XIST 在心血管疾病中的预后潜力：综述。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-06-18 DOI: 10.1080/17410541.2024.2360380
Habib Haybar, Ehsan Sarbazjoda, Daryush Purrahman, Mohammad Reza Mahmoudian-Sani, Najmaldin Saki
{"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}
引用次数: 0
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
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
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