Journal of Personalized Medicine最新文献

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Surgical Management of Mediastinal Ectopic Parathyroids. 纵隔异位甲状旁腺的外科治疗。
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-30 DOI: 10.3390/jpm15070276
Giacomo Rabazzi, Gianmarco Elia, Vittorio Aprile, Stylianos Korasidis, Maria Giovanna Mastromarino, Diana Bacchin, Alessandra Lenzini, Marcello Carlo Ambrogi, Greta Alì, Filomena Cetani, Gabriele Materazzi, Marco Lucchi
{"title":"Surgical Management of Mediastinal Ectopic Parathyroids.","authors":"Giacomo Rabazzi, Gianmarco Elia, Vittorio Aprile, Stylianos Korasidis, Maria Giovanna Mastromarino, Diana Bacchin, Alessandra Lenzini, Marcello Carlo Ambrogi, Greta Alì, Filomena Cetani, Gabriele Materazzi, Marco Lucchi","doi":"10.3390/jpm15070276","DOIUrl":"10.3390/jpm15070276","url":null,"abstract":"<p><p>Primary hyperparathyroidism is commonly caused by parathyroid adenomas, hyperplasia, or, rarely, carcinoma. In up to 20% of cases, parathyroid tissue may be ectopic, often located in the mediastinum due to aberrant embryologic migration. Ectopic parathyroid glands pose a diagnostic and therapeutic challenge, and an accurate preoperative localization is essential for an effective and safe resection. Imaging modalities such as CT scan, TC-sestamibi scintigraphy, PET/CT, ultrasonography and MRI are routinely employed, whereas combined techniques offer improved diagnostic accuracy. Emerging approaches, however, including PET/CT with choline tracers, have shown promise in enhancing sensitivity in complex or recurrent cases. When ectopic glands are in the mediastinum, thoracic surgical intervention is required. Traditional open approaches, such as sternotomy or thoracotomy, are associated with significant morbidity. The development and evolution of minimally invasive surgery (MIS) has become the preferred approach in selected cases. When MIS is performed, intraoperative assessment and parathyroid identification are crucial to ensure complete gland removal. Intraoperative parathyroid hormone (ioPTH) monitoring provides real-time confirmation of surgical success. The integration of advanced imaging, intraoperative monitoring, and minimally invasive techniques significantly improves surgical outcomes while minimizing complications and accelerating patient recovery. Ultimately, the effective treatment of ectopic parathyroid glands relies on a personalized approach, adapting both diagnostic and surgical strategies to the unique anatomical and clinical context of each patient. Integration of advanced imaging, intraoperative monitoring, and minimally invasive techniques, combined with a multidisciplinary team involving endocrinologists, radiologists, and thoracic surgeons, is key to optimizing outcomes and reducing patient morbidity.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12300348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quantitative Method for Monitoring Tumor Evolution During and After Therapy. 治疗期间和治疗后肿瘤演变监测的定量方法。
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-28 DOI: 10.3390/jpm15070275
Paolo Castorina, Filippo Castiglione, Gianluca Ferini, Stefano Forte, Emanuele Martorana
{"title":"Quantitative Method for Monitoring Tumor Evolution During and After Therapy.","authors":"Paolo Castorina, Filippo Castiglione, Gianluca Ferini, Stefano Forte, Emanuele Martorana","doi":"10.3390/jpm15070275","DOIUrl":"10.3390/jpm15070275","url":null,"abstract":"<p><p><b>Objectives</b>: The quantitative analysis of tumor progression-monitored during and immediately after therapeutic interventions-can yield valuable insights into both long-term disease dynamics and treatment efficacy. Methods: We used a computational approach designed to support clinical decision-making, with a focus on personalized patient care, based on modeling therapy effects using effective parameters of the Gompertz law. <b>Results</b>: The method is applied to data from in vivo models undergoing neoadjuvant chemoradiotherapy, as well as conventional and FLASH radiation treatments. <b>Conclusions</b>: This user-friendly, phenomenological model captures distinct phases of treatment response and identifies a critical dose threshold distinguishing complete response from partial response or tumor regrowth. These findings lay the groundwork for real-time quantitative monitoring of disease progression during therapy and contribute to a more tailored and predictive clinical strategy.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12299402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Major Allele Frequencies in CYP2C9 and CYP2C19 in Asian and European Populations: A Case Study to Disaggregate Data Among Large Racial Categories. 亚洲和欧洲人群CYP2C9和CYP2C19主要等位基因频率:大种族分类数据的个案研究
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-27 DOI: 10.3390/jpm15070274
Horng-Ee Vincent Nieh, Youssef Malak Roman
{"title":"Major Allele Frequencies in <i>CYP2C9</i> and <i>CYP2C19</i> in Asian and European Populations: A Case Study to Disaggregate Data Among Large Racial Categories.","authors":"Horng-Ee Vincent Nieh, Youssef Malak Roman","doi":"10.3390/jpm15070274","DOIUrl":"10.3390/jpm15070274","url":null,"abstract":"<p><p>CYP2C9 and CYP2C19 are major CYP450 enzymes that heavily influence the hepatic metabolism and bioactivation of many medications, including over-the-counter and narrow therapeutic index drugs. Compared to the wild-type alleles, genetic variants in either gene could potentially alter the pharmacokinetics of widely used medications, affect the desired therapeutic outcomes of a drug therapy, or increase the risk of undesired adverse events. The frequency of genetic polymorphisms associated with CYP450 enzymes can widely differ across and between racial and ethnic groups. This narrative review highlights the differences in <i>CYP2C9</i> and <i>CYP2C19</i> allele frequencies among European and Asian population subgroups, using published literature. Identifying the substantial differences across European and Asian populations, as well as within Asian subgroups, indicates the need to further scrutinize general population data. Clinical scientists and healthcare providers should advocate for more inclusive clinical pharmacogenomic data and racially and ethnically diverse pharmacogenomic databases. Clinical trials of limited racial and geographical diversity may not necessarily have strong external generalizability for all populations. Furthermore, clinical trials that designate an all-inclusive Asian population consisting of multiple ethnicities may not be adequate due to the perceived genetic differences among Asian subgroups. Gravitating towards a more comprehensive approach to utilizing pharmacogenomic data necessitates granular population-level genetic information which can be leveraged to improve how drug therapies are prescribed, achieve health equity, and advance the future of precision medicine.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12300455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Insufficient Number of Informative SNPs in a Preclinical Karyomapping Test for PGT-M Depends on the Reference Selected. PGT-M临床前核测绘试验中信息snp数量的不足取决于所选择的参考文献。
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-26 DOI: 10.3390/jpm15070273
Min Jee Kim, Yeseul Hong, Gaeul Han, Hyoung-Song Lee, Eun A Park, Kyung-Ah Lee, Eun Jeong Yu, Inn Soo Kang
{"title":"The Insufficient Number of Informative SNPs in a Preclinical Karyomapping Test for PGT-M Depends on the Reference Selected.","authors":"Min Jee Kim, Yeseul Hong, Gaeul Han, Hyoung-Song Lee, Eun A Park, Kyung-Ah Lee, Eun Jeong Yu, Inn Soo Kang","doi":"10.3390/jpm15070273","DOIUrl":"10.3390/jpm15070273","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Karyomapping, a genome-wide SNP analysis, has drastically changed the approach to preimplantation genetic testing for monogenic disorders (PGT-M). However, there are cases in which karyomapping cannot be applied due to an insufficient number of informative SNPs. In this study, we aimed to analyze for the first time whether an insufficient number of informative SNPs is related to the family member used as a reference. <b>Methods</b>: For the karyomapping pre-clinical test, in addition to the couple, one of the DNA samples from an additional family member (children, parent, sibling) is used as a reference for phasing the SNP allele. We analyzed 263 couples who underwent karyomapping for PGT-M at the CHA Fertility Center from May 2020 to December 2022. karyomapping data was scanned on an Illumina NextSeq and analyzed through the BlueFuse Multi software version 4.5. <b>Results</b>: Preclinical karyomapping tests were performed in 263 couples with 58 monogenic diseases. Karyomapping was applicable to PGT-M for 241 (91.6%) couples and not applicable for 22 (8.4%) couples. The percentages of \"not applicable\" cases according to the reference family member were 1.3% (1/80) in the children group, 5.4% (8/148) in the parent group, and 37.1% (13/35) in the sibling group. Among the genetic diseases studied, couples with neurofibromatosis type 1 (6/27, 22.2%) and Kennedy disease (5/5, 100%) had the highest rate of non-applicable cases. <b>Conclusions</b>: Our results suggest that a child or parent may be better than the sibling for karyomapping in PGT-M. These data provide useful information for selecting a reference among the family members for preclinical karyomapping tests.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12300894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neuroendocrine Neoplasms in Pregnancy: A Narrative Review of Clinical Challenges and Therapeutic Limitations in the Absence of Established Safe Treatments. 妊娠期神经内分泌肿瘤:缺乏安全治疗的临床挑战和治疗局限性的叙述性回顾。
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-25 DOI: 10.3390/jpm15070272
Mauro Daniel Spina Donadio, Maria Cecília Mathias-Machado, Danielly Scaranello Nunes Santana, Renata D'Alpino Peixoto
{"title":"Neuroendocrine Neoplasms in Pregnancy: A Narrative Review of Clinical Challenges and Therapeutic Limitations in the Absence of Established Safe Treatments.","authors":"Mauro Daniel Spina Donadio, Maria Cecília Mathias-Machado, Danielly Scaranello Nunes Santana, Renata D'Alpino Peixoto","doi":"10.3390/jpm15070272","DOIUrl":"10.3390/jpm15070272","url":null,"abstract":"<p><p>Cancer during pregnancy is a rare but complex clinical scenario that affects approximately 0.1% of pregnant individuals and is associated with increased maternal morbidity. With the trend of delayed childbearing, the incidence of pregnancy-associated cancers is expected to rise. Neuroendocrine neoplasms (NENs), although rare in pregnancy, present unique diagnostic and therapeutic challenges due to their hormonal activity, histological diversity, and limited data on management in the gestational context. <b>Objectives</b>: This manuscript reviews the current evidence on the diagnosis, staging, and management of NENs during pregnancy, focusing on maternal-fetal safety, therapeutic limitations, and multidisciplinary care strategies. <b>Methods</b>: A comprehensive narrative review was conducted using relevant case reports, retrospective studies, clinical guidelines, and expert consensus documents addressing cancer in pregnancy and NEN-specific management. <b>Results</b>: Pregnancy complicates the evaluation and treatment of NENs due to overlapping symptoms, contraindications to standard imaging and systemic therapies, and unreliable biomarkers such as chromogranin A and 5-HIAA. Most systemic therapies for NENs, including somatostatin analogs, tyrosine kinase inhibitors, and peptide receptor radionuclide therapy, are contraindicated or lack safety data in pregnancy. Surgical interventions and supportive care require careful planning. Decisions regarding pregnancy continuation or termination must be individualized and supported by a multidisciplinary team. <b>Conclusions</b>: The management of NENs during pregnancy demands a highly individualized approach, coordinated among oncology, maternal-fetal medicine, and supportive care teams. Given the paucity of robust data, future research is essential to establish evidence-based guidelines and improve outcomes for both mother and fetus.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12298551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Curae de Mim (Care for Me): A Personalized Alzheimer's Care Nursing Intervention for Informal Caregivers. Curae de Mim (Care for Me):针对非正式护理人员的个性化阿尔茨海默氏症护理干预。
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-25 DOI: 10.3390/jpm15070270
Catarina Inês Costa Afonso, Ana Spínola Madeira, Alcinda Reis, João Gomes
{"title":"Curae de Mim (Care for Me): A Personalized Alzheimer's Care Nursing Intervention for Informal Caregivers.","authors":"Catarina Inês Costa Afonso, Ana Spínola Madeira, Alcinda Reis, João Gomes","doi":"10.3390/jpm15070270","DOIUrl":"10.3390/jpm15070270","url":null,"abstract":"<p><p><b>Background:</b> Informal caregivers of individuals with Alzheimer's disease often experience high levels of emotional, physical, and psychological burden. Personalized nursing interventions are essential to support these caregivers and promote their well-being. <b>Objectives:</b> The objective of this study was to implement and evaluate a personalized psychoeducational intervention-Curae de Mim (Care for Me)-designed to reduce caregivers' burden and enhance the emotional resilience among informal caregivers for people with Alzheimer's disease. <b>Methods:</b> A mixed-methods study was conducted with 14 informal caregivers in a Portuguese community healthcare setting. The intervention consisted of six weekly group sessions guided by a mental health nurse, using cognitive-behavioral and recovery-oriented approaches. <b>Results:</b> After the intervention, the caregivers' burden scores decreased significantly. The mean burden score dropped from 78 to 50. The thematic analysis revealed two key outcomes: emotional empowerment through peer interactions and reframing of the caregiver's role through knowledge and self-care. <b>Conclusions:</b> This program proved effective in reducing caregivers' burden and promoting adaptive coping. The integration of narrative reflection and specialized nursing care contributed to improved mental health outcomes.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12298485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deciphering Breast Tumor Heterogeneity Through Patient-Derived Organoids and Circulating Tumor Cells. 通过患者来源的类器官和循环肿瘤细胞解读乳腺肿瘤异质性。
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-25 DOI: 10.3390/jpm15070271
Benedetta Policastro, Nikoline Nissen, Carla L Alves
{"title":"Deciphering Breast Tumor Heterogeneity Through Patient-Derived Organoids and Circulating Tumor Cells.","authors":"Benedetta Policastro, Nikoline Nissen, Carla L Alves","doi":"10.3390/jpm15070271","DOIUrl":"10.3390/jpm15070271","url":null,"abstract":"<p><p>Breast cancer is a highly heterogeneous disease, with tumors capable of adapting to shifting conditions, making the development of effective personalized therapies particularly challenging. Patient-derived models, such as patient-derived organoids (PDOs) and circulating tumor cell (CTC) cultures, have emerged as powerful tools for investigating intra- and inter-tumor heterogeneity. These models largely retain the genetic, phenotypic, and microenvironmental features of the original tumors, providing valuable insights into disease progression, drug response, and resistance mechanisms. Furthermore, by enabling tumors' spatiotemporal molecular profiling, PDOs and CTCs offer a dynamic approach to assess treatment efficacy over time. However, to fully capture the complexity of breast cancer heterogeneity, it is required to develop models from multiple tumor and blood samples collected throughout the course of treatment. This review explores the potential of integrating PDOs and CTC models to better understand intra-tumor heterogeneity while addressing key challenges in developing patient-derived models that accurately recapitulate patients' tumors to advance personalized care. The integration of PDOs and CTCs could represent a paradigm shift in the personalized management of metastatic breast cancer.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12299329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Impact of AI-Driven Chatbot Assistance on Protocol Development and Clinical Research Engagement: An Implementation Report. 人工智能驱动的聊天机器人对方案制定和临床研究参与的影响:实施报告。
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-24 DOI: 10.3390/jpm15070269
Kusal Weerasinghe, David B Olawade, Jennifer Teke, Maines Msiska, Stergios Boussios
{"title":"The Impact of AI-Driven Chatbot Assistance on Protocol Development and Clinical Research Engagement: An Implementation Report.","authors":"Kusal Weerasinghe, David B Olawade, Jennifer Teke, Maines Msiska, Stergios Boussios","doi":"10.3390/jpm15070269","DOIUrl":"10.3390/jpm15070269","url":null,"abstract":"<p><p><b>Background:</b> The integration of artificial intelligence (AI) into healthcare research has the potential to enhance research capacity, streamline protocol development, and reduce barriers to engagement. Medway NHS Foundation Trust identified a plateau in homegrown research participation, particularly among clinicians with limited research experience. A generative AI-driven chatbot was introduced to assist researchers in protocol development by providing step-by-step guidance, prompting ethical and scientific considerations, and offering immediate feedback. <b>Methods:</b> The chatbot was developed using OpenAI's GPT-3.5 architecture, customised with domain-specific training based on Trust guidelines, Health Research Authority (HRA) requirements, and Integrated Research Application System (IRAS) submission protocols. It was deployed to guide researchers through protocol planning, ensuring compliance with ethical and scientific standards. A mixed-methods evaluation was conducted using a qualitative-dominant sequential explanatory design. Seven early adopters completed a 10-item questionnaire (5-point Likert scales), followed by eight free-flowing interviews to achieve thematic saturation. <b>Results:</b> Since its launch, the chatbot has received an overall performance rating of 8.86/10 from the seven survey respondents. Users reported increased confidence in protocol development, reduced waiting times for expert review, and improved inclusivity in research participation across professional groups. However, limitations in usage due to free-tier platform constraints were identified as a key challenge. <b>Conclusions:</b> AI-driven chatbot tools show promise in supporting research engagement in busy clinical environments. Future improvements should focus on expanding access, optimising integration, and fostering collaboration among NHS institutions to enhance research efficiency and inclusivity.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12300609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effectiveness and Clinical Outcomes of PGT-M Using Karyomapping for Successful Pregnancy and Birth in Various Types of Charcot-Marie-Tooth Disease. PGT-M在不同类型腓骨肌病中成功妊娠和分娩的有效性和临床结果
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-23 DOI: 10.3390/jpm15070268
Gaeul Han, Min Jee Kim, Ye Seul Hong, Shinhyung Lee, Jieun Lee, Ye Ryeong Lee, Hyoung-Song Lee, Kyung Ah Lee, Byung-Ok Choi, Eun Jeong Yu, Inn Soo Kang
{"title":"Effectiveness and Clinical Outcomes of PGT-M Using Karyomapping for Successful Pregnancy and Birth in Various Types of Charcot-Marie-Tooth Disease.","authors":"Gaeul Han, Min Jee Kim, Ye Seul Hong, Shinhyung Lee, Jieun Lee, Ye Ryeong Lee, Hyoung-Song Lee, Kyung Ah Lee, Byung-Ok Choi, Eun Jeong Yu, Inn Soo Kang","doi":"10.3390/jpm15070268","DOIUrl":"10.3390/jpm15070268","url":null,"abstract":"<p><p><b>Background:</b> Charcot-Marie-Tooth disease (CMT) is a genetically and clinically heterogeneous group of progressive peripheral neuropathies. Preimplantation genetic testing for monogenic disorders (PGT-M), a well-established assisted reproductive technology used to detect specific genetic mutations in embryos before implantation, has been used in common CMT subtypes (e.g., CMT1A); however, data on its application across rarer subtypes and in de novo cases remain limited. In this study, we aimed to evaluate the effectiveness of PGT-M using karyomapping in achieving clinical pregnancies and healthy births in families affected by various CMT types, including the previously unreported subtypes CMT1B and CMT2. <b>Methods:</b> We analyzed 31 PGT-M cycles from 13 families with genetically confirmed CMT, including cases of previously unreported subtypes CMT1B and CMT2. A total of 150 embryos were biopsied. Through 19 embryo transfer cycles, 21 embryos were transferred. In one de novo case, karyomapping was performed using amniotic fluid from an affected fetus as a reference. <b>Results:</b> Of the 19 embryo transfers, 15 resulted in clinical pregnancies. Prenatal diagnosis confirmed that all fetuses were unaffected, and all pregnancies resulted in healthy live births. Successful phasing using amniotic fluid from an affected fetus enabled accurate embryo selection and led to the birth of healthy twins. <b>Conclusions:</b> PGT-M using karyomapping is a rapid and reliable method for achieving successful pregnancies in families affected by diverse CMT subtypes, including de novo cases, and supports broader applicability to other monogenic disorders.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12300803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
BALF Lymphocyte and Cytokine Profiling as Biomarkers of Acute Rejection After Lung Transplantation. BALF淋巴细胞和细胞因子谱作为肺移植后急性排斥反应的生物标志物
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-06-23 DOI: 10.3390/jpm15070267
Silvia Aguado Ibáñez, Carlos Almonacid Sanchez, Piedad Ussetti Gil
{"title":"BALF Lymphocyte and Cytokine Profiling as Biomarkers of Acute Rejection After Lung Transplantation.","authors":"Silvia Aguado Ibáñez, Carlos Almonacid Sanchez, Piedad Ussetti Gil","doi":"10.3390/jpm15070267","DOIUrl":"10.3390/jpm15070267","url":null,"abstract":"<p><p><b>Background:</b> Acute cellular rejection (ACR) remains a common complication following lung transplantation and is a major risk factor for chronic lung allograft dysfunction (CLAD). Although transbronchial biopsy (TBB) is the diagnostic gold standard, it is invasive and may be contraindicated in certain patients. This study aimed to assess the diagnostic utility of combining bronchoalveolar lavage fluid (BALF) lymphocyte counts with cytokine profiling-particularly interleukin-17A (IL-17A)-in lung transplant recipients with elevated peripheral blood eosinophil (EOS) counts. <b>Methods</b>: We retrospectively analyzed 108 BALF and matched TBB samples from 74 lung transplant recipients with EOS counts >200 cells/μL, collected between 2014 and 2020. BALF lymphocyte percentages and levels of cytokines (IL-4, IL-6, IL-10, IL-13, IL-15, IL-17A, IFN-γ, TNF) were quantified. Associations with histologically confirmed ACR were evaluated using generalized estimating equation models. <b>Results</b>: ACR was diagnosed in 57% of TBB samples. BALF lymphocyte percentages were significantly higher in ACR cases (median 8% vs. 4%, <i>p</i> < 0.001). Each 1% increase in lymphocytes was associated with a 10% increase in the odds of ACR (OR 1.102; 95% CI 1.076-1.129). IL-17A levels were also significantly elevated in ACR (OR 1.047; 95% CI 1.003-1.092; <i>p</i> = 0.032), but with moderate discriminative ability (AUC = 0.629). The combination of BALF lymphocyte counts and IL-17A levels improved diagnostic performance (AUC > 0.76). <b>Conclusions</b>: The combined assessment of BALF lymphocyte counts and IL-17A levels in recipients with elevated EOS offers a promising non-invasive strategy to support the diagnosis of ACR. Prospective studies are needed to validate these findings and further refine personalized diagnostic approaches to ACR.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 7","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12298199/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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