Journal of Personalized Medicine最新文献

{"title":"The Endoscopic Management of Anastomotic Strictures After Esophagogastric Surgery: A Comprehensive Review of Emerging Approaches Beyond Endoscopic Dilation.","authors":"Giuseppe Dell'Anna, Jacopo Fanizza, Francesco Vito Mandarino, Alberto Barchi, Ernesto Fasulo, Edoardo Vespa, Lorella Fanti, Francesco Azzolini, Silvia Battaglia, Francesco Puccetti, Andrea Cossu, Ugo Elmore, Antonio Facciorusso, Armando Dell'Anna, Lorenzo Fuccio, Angelo Bruni, Sara Massironi, Vito Annese, Alberto Malesci, Gianfranco Donatelli, Riccardo Rosati, Silvio Danese","doi":"10.3390/jpm15030111","DOIUrl":"10.3390/jpm15030111","url":null,"abstract":"<p><p>Anastomotic strictures are a common complication following esophagogastric surgery, with prevalence varying depending on the type of surgery and anatomical site. These strictures can lead to debilitating symptoms such as dysphagia, pain, and malabsorption, significantly impacting patients' quality of life. Endoscopic treatment of anastomotic strictures has established a role as the first-line strategy in this setting instead of revision surgery, offering benefits in terms of lower morbidity. Various endoscopic methods are available for anastomotic stricture management, including balloon dilation, stent placement, the new lumen-apposing metal stent, and endoscopic incision techniques. However, there is currently no strong evidence and established guidelines for the optimal treatment strategy. Available data suggest that endoscopic treatments, when performed in tertiary referral centers, can provide favorable outcomes in terms of symptom relief and reduced need for rescue surgical intervention. Nonetheless, challenges remain regarding the management of recurrent strictures and procedural complications, underscoring the need for a personalized, multidisciplinary approach to optimize clinical outcomes. This review aims to provide an updated overview of endoscopic techniques and available evidence with a focus on the most recent technologies, supporting clinicians in effectively managing anastomotic strictures in complex clinical settings.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710093","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}

{"title":"Enhancing Rural Healthcare Accessibility: A Model for Pharmacogenomics Adoption via an Outreach-Focused Integration Strategy.","authors":"Jared Silver, Evan Forman, David Barrett, Jovana Sibalija, Richard Kim","doi":"10.3390/jpm15030110","DOIUrl":"10.3390/jpm15030110","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Pharmacogenomics is an emerging field in precision medicine that aims to improve patient outcomes by tailoring drug selection and dosage to an individual's genetic makeup. However, patients in rural communities often cannot take advantage of specialized services such as pharmacogenomics due to various barriers that limit access to healthcare. This article aims to identify the barriers to implementing pharmacogenomic initiatives in rural communities and assess strategies for integrating pharmacogenomics into rural healthcare systems. <b>Methods</b>: This article describes the qualitative research that was conducted using semi-structured interviews with various stakeholders in addition to explaining how strategic frameworks were used to synthesize secondary research. <b>Results</b>: The findings of this article indicated mixed awareness of pharmacogenomics as an option amongst stakeholders, highlighting the need for targeted outreach and education intervention. Solutions such as mail-in testing and telemedicine were determined to be feasible solutions to address various geographical and logistical barriers that exist for rural patients. This article determines that successful strategies will leverage existing infrastructure and prioritize patient care, workflow integration, and adoption. <b>Conclusions</b>: Making pharmacogenomics a viable option for rural patients will take a multi-faceted approach that combines outreach, education, and innovative delivery models to overcome the multiple barriers facing rural communities.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710236","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}

{"title":"Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.","authors":"Ali R Çalışkan, Jasmin Weninger, Huseyin Kaçmaz, Eda Nacar, Emine Şahin Kutlu, Hüseyin Onay, Süleyman Bayram, Ali Canbay, Mustafa K Özcürümez","doi":"10.3390/jpm15030109","DOIUrl":"10.3390/jpm15030109","url":null,"abstract":"<p><p><b>Background:</b> Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, leading to deficient β-glucocerebrosidase activity. This results in the accumulation of glucocerebroside in macrophages, primarily affecting the liver, spleen, bone marrow, and bones. Understanding the clinical outcomes and genetic mutation profiles in specific populations, such as Turkish patients, is essential for optimized disease management and personalized therapy and preventing morbidity and mortality. <b>Method:</b> This retrospective study analyzed data from 29 Turkish patients with previously diagnosed type 1 GD at a single center between September and December 2023. Genetic analyses were performed to identify GBA1 mutations using next-generation sequencing. Genetic mutations were the primary criterion for diagnosing GD. Clinical features, treatment responses, and outcomes were evaluated. Clinical parameters included hematological findings, organomegaly, and bone involvement. Data were analyzed to identify potential correlations between genetic mutations and clinical manifestations. <b>Results:</b> This study included 14 male and 15 female patients, with a mean diagnosis age of 22.1 years. A significant family history was observed in 93% of cases, and 52% had consanguineous parents. Epistaxis (72%) was the most common pre-diagnosis symptom. Most patients received enzyme replacement therapy with 60 units/kg. Treatment led to significant improvements, including increased hemoglobin (21.1%), higher platelet count (86.1%), and reduced organomegaly (liver (10.02%), spleen (25.22%)). Genetic analysis identified seven mutations, with c.1226A>G (p.N409S) being the most frequent. <b>Conclusions:</b> This study highlights the spectrum of clinical outcomes and genetic mutations in Turkish patients with GD, emphasizing the variability in disease severity based on genotype. GD should be considered for patients with unexplained nosebleeds, hepatosplenomegaly, bone pain, weakness, or siblings or other family members with similar symptoms. The genetic analysis revealed considerable heterogeneity among patients, which indicates the necessity of observing this in the development of personalized treatment strategies. Future studies with larger cohorts and long-term follow-up are needed to further elucidate genotype-phenotype correlations in this population.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710099","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}

{"title":"Impact of Surgical Timing, Fasciotomy, and External Fixation on Infection Risk in Tibial Plateau Fractures.","authors":"Salvatore Risitano, Antonio Rea, Giorgia Garofalo, Francesco Onorato, Ahmed Elzeiny, Stefano Artiaco, Marcello Capella, Pier Francesco Indelli, Alessandro Massè","doi":"10.3390/jpm15030108","DOIUrl":"10.3390/jpm15030108","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Tibial plateau fractures (TPFs) are commonly associated with complex patterns requiring advanced surgical strategies. High-energy trauma often results in severe soft tissue damage, complicating surgical outcomes. Despite advancements in soft tissue management, postoperative complications such as surgical site infections (SSIs) remain prevalent, with rates ranging from 9.9% to 30%. This study aims to analyze risk factors and surgical approaches influencing acute SSIs following TPF fixation. <b>Methods</b>: A retrospective analysis was conducted on 365 patients treated for TPFs with open or arthroscopy-assisted reduction and internal fixation (ORIF/ARIF) at a single center between January 2018 and December 2023. Inclusion criteria encompassed fractures classified by the Schatzker system and definitive management through ORIF/ARIF. Exclusion criteria included non-tibial plateau fractures, polytrauma, multiligament injuries and associated femoral fractures. Patient demographics, fracture patterns, surgical interventions, and postoperative complications were reviewed. Statistical analysis was performed using chi-square and ANOVA tests, with significance set at <i>p</i> < 0.05. <b>Results</b>: The final cohort included 364 patients (mean age: 45.4 ± 17.4 years; 59.2% male). High-energy fractures (Schatzker IV-VI) accounted for 47.7%, with 6.86% being open fractures. The mean interval to surgery was 14.9 ± 20.6 days. Superficial infections occurred in 21 cases (5.8%), predominantly at external fixator pin sites, while 15 cases (4.1%) involved deep infections. A statistically significant correlation was observed between SSIs and preoperative fasciotomy (<i>p</i> < 0.0001), damage control orthopedic protocols (<i>p</i> < 0.0001), and delays in definitive treatment of 10-30 days (<i>p</i> < 0.0001). No significant associations were found between infection rates and fracture type, dual surgical approaches, or the use of arthroscopy. <b>Conclusions</b>: External fixation, preoperative fasciotomy, and delayed definitive treatment are independent risk factors for SSIs following TPF fixation. High-energy injuries and soft tissue damage exacerbate infection risk. A personalized surgical approach, based on minimally invasive techniques and optimized surgical timing may mitigate these complications and significantly improve clinical outcomes in TPFs.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710357","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}

{"title":"Diabetic Macular Edema in the Western Part of Romania: Screening to Improve Patient Outcomes.","authors":"Adriana Ivanescu, Simona Popescu, Deiana Roman, Monica Dragomir, Romulus Timar","doi":"10.3390/jpm15030106","DOIUrl":"10.3390/jpm15030106","url":null,"abstract":"<p><p><b>Background</b>: Diabetes mellitus (DM) is a global healthcare concern with a rising prevalence. Patients with DM have a severely diminished quality of life due to the extensive range of connected complications. One of the most impactful diabetes-associated pathologies is diabetic macular edema (DME), as it is a major cause of blindness globally. Patients with DME present many concomitant diseases that influence their prognosis. The present research seeks to describe the most frequent DME-related comorbidities. <b>Method</b>: This study enrolled 105 participants previously diagnosed with type 1 DM (T1DM) or type 2 DM (T2DM) (77 presenting with DME), who were evaluated regarding other associated comorbidities. <b>Results</b>: Patients in the DME group presented a median age of 65, with a mean disease duration of 15 years and inadequate glycemic control, reflected by a mean HbA1c of 7.5%. All patients presented at least one comorbidity, with hypertension (100%) and dyslipidemia (62.3%) being the most prevalent. Spearman analysis revealed a statistically significant correlation between DME and diabetes duration (<i>p</i> = 0.01), proliferative diabetic retinopathy (<i>p</i> = 0.004), and chronic kidney disease (<i>p</i> = 0.034). <b>Conclusions</b>: Patients with DME often present multiple comorbidities that must be screened for and addressed through a multidisciplinary approach.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710197","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}

{"title":"Dysregulation of Circadian Markers, HAT1 and Associated Epigenetic Proteins, and the Anti-Aging Protein KLOTHO in Placenta of Pregnant Women with Chronic Venous Disease.","authors":"Oscar Fraile-Martinez, Cielo García-Montero, Tatiana Pekarek, Julia Bujan, Silvestra Barrena-Blázquez, Eva Manuela Pena-Burgos, Laura López-González, Leonel Pekarek, Raul Díaz-Pedrero, Juan A De León-Luis, Coral Bravo, Melchor Álvarez-Mon, Miguel A Saez, Natalio García-Honduvilla, Miguel A Ortega","doi":"10.3390/jpm15030107","DOIUrl":"10.3390/jpm15030107","url":null,"abstract":"<p><p><b>Background:</b> Chronic venous disease (CVD) is a vascular disorder common among pregnant women, due to the impairment in the venous function associated with the mechanical, hemodynamical, and hormonal changes that occur during pregnancy. CVD is linked to venous hypertension, inflammation, oxidative stress, and hypoxia, which alter placental structure and function, as demonstrated in previous works. The placenta fulfills several roles in fetal development and maternal well-being by mediating nutrient exchange; acting as a mechanical, chemical, and immunological shield; and producing essential hormones, making it crucial to investigate the effects of CVD in this organ. <b>Patients and methods:</b> This work specifically analyzes the gene expression of circadian markers (<i>CLOCK</i>, <i>BMAL1</i>, <i>PER1</i>, and <i>PER2</i>), epigenetic regulators (<i>HAT1</i> and associated molecules like histones <i>H3</i>, <i>H4</i>, <i>RBBP7,</i> and <i>ASF1</i>), and the anti-aging protein <i>KLOTHO</i> in placental tissue of pregnant women with CVD (CVD-PW, N = 98) compared to healthy pregnant controls (HC-PW, N = 82), using RT-qPCR and immunohistochemistry (IHC) to determine protein expression. <b>Results:</b> Our study demonstrates that the placentas of CVD-PW exhibit the reduced gene and protein levels of circadian regulators (clock, bmal1, per1, and per2), increased expression of hat1 and related proteins (h3, h4, rbbp7, and asf1), and decreased klotho expression, indicative of accelerated aging. <b>Conclusions:</b> These findings highlight profound molecular disturbances in the placentas of women with CVD, offering insights into the disease's pathophysiology and potential implications for maternofetal well-being. While this study deepens our understanding of the relationship between CVD and placental dysfunction, further research is required to fully elucidate these mechanisms and their long-term effects.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710228","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}

{"title":"The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.","authors":"Aristi Boulmpou, Andreas Giannopoulos, Christodoulos Papadopoulos, Georgios Giannopoulos, Ioannis Papagiannis, Georgios Zormpas, Anastasia Keivanidou, Liana Fidani, Vassilios Vassilikos","doi":"10.3390/jpm15030105","DOIUrl":"10.3390/jpm15030105","url":null,"abstract":"<p><p><b>Background:</b> Short QT syndrome (SQTS) is a rare inheritable channelopathy characterized by a shortened corrected QT interval on an electrocardiogram and a significant risk of atrial and ventricular arrhythmias, potentially leading to sudden cardiac death. Despite advancements in our understanding of SQTS, knowledge gaps persist due to its extreme rarity. This scoping review aims to summarize the available knowledge on its clinical presentations, genetic mutations, and management strategies, while identifying areas for further investigation. <b>Methods:</b> This scoping review was conducted across the PubMed, Scopus, and Cochrane databases and identified relevant case reports, case series, and available studies on SQTS. We focused on articles that reported clinical outcomes, genetic mutations, diagnostic criteria, and management strategies, while excluding studies on the secondary causes of short QT intervals. <b>Results:</b> SQTS is present across a wide age range, from asymptomatic individuals to those experiencing syncope, palpitations, or sudden cardiac arrest. Common genetic mutations include <i>KCNQ1</i>, <i>KCNH2</i>, and <i>KCNJ2</i>. Management strategies vary, with some patients receiving implantable cardioverter defibrillators for secondary prevention and others treated pharmacologically, primarily with hydroquinidine. Our findings highlight the rarity and clinical variability of SQTS, underscoring the need for optimized diagnostic criteria and individualized management strategies. <b>Conclusions:</b> This review emphasizes the need for continued research to better understand the genetic basis of SQTS, optimize diagnostic tools, and improve treatment approaches. Large-scale studies and the integration of genetic and clinical data are critical to addressing the gaps in SQTS management and improving outcomes for patients with this potentially life-threatening arrhythmic disorder.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710301","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}

{"title":"Reducing Postoperative Complications in High-Risk Breast Surgery Patients: A Preliminary Study on the Efficacy of NPWT Dressing.","authors":"Raquel Diaz, Ilaria Baldelli, Letizia Cuniolo, Ludovico Ponzielli, Elisa Bertulla, Giada Marassi, Federica Murelli, Chiara Cornacchia, Francesca Depaoli, Cecilia Margarino, Chiara Boccardo, Marco Gipponi, Simonetta Franchelli, Marianna Pesce, Franco De Cian, Piero Fregatti","doi":"10.3390/jpm15030104","DOIUrl":"10.3390/jpm15030104","url":null,"abstract":"<p><p><b>Background</b>: Negative Pressure Wound Therapy (NPWT) has proven to be an effective intervention in preventing postoperative complications across a range of surgical specialties, including orthopedics, vascular, and abdominal surgery. This study aimed to assess the prophylactic use of NPWT dressing compared to the Standard of Care (SOC) in high-risk patients undergoing oncoplastic and reconstructive breast surgery. <b>Materials and Methods</b>: This preliminary case-control study included 23 high-risk patients, enrolled between September 2023 and February 2024, at San Martino Polyclinic Hospital, Genoa. High-risk patients were defined as those with one or more of the following risk factors: obesity, prior radiotherapy, neoadjuvant chemotherapy, smoking history, diabetes, or corticosteroid use. The surgical procedures evaluated in this study included mastectomy with immediate implant-based breast reconstruction, reduction mammoplasty, and oncoplastic breast surgery following local excision or quadrantectomy. NPWT dressing was applied immediately after skin closure in the operating room, replaced after 2-3 days, and removed 7 days post-procedure. Surgical outcomes assessed included skin flap necrosis, wound dehiscence, infection, implant loss, and delays in adjuvant therapy. <b>Results</b>: A total of 23 patients, aged 45 to 57 years, were enrolled. Eleven patients received NPWT dressing, while twelve were treated with SOC. No complications occurred in the NPWT dressing group, whereas four complications were observed in the SOC group. Of the control group, three patients developed infections, which were treated with oral antibiotics for two, while one required implant replacement surgery. The remaining patient in the control group experienced wound dehiscence, which was successfully managed conservatively on an outpatient basis. <b>Discussion and Conclusions</b>: Our findings suggest that prophylactic NPWT dressing in oncoplastic and reconstructive breast surgery results in a significantly lower rate of wound-related complications. Although this is a preliminary study, it provides a foundation for further research in a larger cohort. These results also prompt a discussion of the cost-effectiveness of NPWT dressing relative to the SOC, given its higher cost.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709840","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}

{"title":"Genetic and Regulatory Mechanisms of Comorbidity of Anxiety, Depression and ADHD: A GWAS Meta-Meta-Analysis Through the Lens of a System Biological and Pharmacogenomic Perspective in 18.5 M Subjects.","authors":"Kai-Uwe Lewandrowski, Kenneth Blum, Alireza Sharafshah, Kyriaki Z Thanos, Panayotis K Thanos, Richa Zirath, Albert Pinhasov, Abdalla Bowirrat, Nicole Jafari, Foojan Zeine, Milan Makale, Colin Hanna, David Baron, Igor Elman, Edward J Modestino, Rajendra D Badgaiyan, Keerthy Sunder, Kevin T Murphy, Ashim Gupta, Alex P L Lewandrowski, Rossano Kepler Alvim Fiorelli, Sergio Schmidt","doi":"10.3390/jpm15030103","DOIUrl":"10.3390/jpm15030103","url":null,"abstract":"<p><p><b>Background:</b> In the United States, approximately 1 in 5 children experience comorbidities with mental illness, including depression and anxiety, which lead to poor general health outcomes. Adolescents with substance use disorders exhibit high rates of co-occurring mental illness, with over 60% meeting diagnostic criteria for another psychiatric condition in community-based treatment programs. Comorbidities are influenced by both genetic (DNA antecedents) and environmental (epigenetic) factors. Given the significant impact of psychiatric comorbidities on individuals' lives, this study aims to uncover common mechanisms through a Genome-Wide Association Study (GWAS) meta-meta-analysis. <b>Methods:</b> GWAS datasets were obtained for each comorbid phenotype, followed by a GWAS meta-meta-analysis using a significance threshold of <i>p</i> < 5E-8 to validate the rationale behind combining all GWAS phenotypes. The combined and refined dataset was subjected to bioinformatic analyses, including Protein-Protein Interactions and Systems Biology. Pharmacogenomics (PGx) annotations for all potential genes with at least one PGx were tested, and the genes identified were combined with the Genetic Addiction Risk Severity (GARS) test, which included 10 genes and eleven Single Nucleotide Polymorphisms (SNPs). The STRING-MODEL was employed to discover novel networks and Protein-Drug interactions. <b>Results:</b> Autism Spectrum Disorder (ASD) was identified as the top manifestation derived from the known comorbid interaction of anxiety, depression, and attention deficit hyperactivity disorder (ADHD). The STRING-MODEL and Protein-Drug interaction analysis revealed a novel network associated with these psychiatric comorbidities. The findings suggest that these interactions are linked to the need to induce \"dopamine homeostasis\" as a therapeutic outcome. <b>Conclusions:</b> This study provides a reliable genetic and epigenetic map that could assist healthcare professionals in the therapeutic care of patients presenting with multiple psychiatric manifestations, including anxiety, depression, and ADHD. The results highlight the importance of targeting dopamine homeostasis in managing ASD linked to these comorbidities. These insights may guide future pharmacogenomic interventions to improve clinical outcomes in affected individuals.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710354","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}

{"title":"Personalized Diagnoses for Those Born with Congenitally Malformed Hearts.","authors":"Adrian C Crucean, Diane E Spicer, Justin T Tretter, Rohit Loomba, Robert H Anderson","doi":"10.3390/jpm15030102","DOIUrl":"10.3390/jpm15030102","url":null,"abstract":"<p><p><b>Background/Objectives</b>: It is increasingly realized that the advances in diagnosis and treatment for those born with congenitally malformed hearts have now resulted in avoidance of morbidity being equally as important as avoiding postoperative mortality. Detailed personalized diagnoses will now be key to achieve such improvements. <b>Methods</b>: We have reviewed our own experience in diagnosing major phenotypic variations on selected congenital cardiac malformations, showing that the ability to personalize the findings is at hand, although not always to date universally employed. <b>Results</b>: We have chosen four categories to illustrate how the definitions now provided by the International Nomenclature Society, and incorporated in the 11th iteration of the International Classification of Disease, make it possible to provide personalized diagnoses. The lesions chosen for review are the arrangement of the atrial appendages, the lesions permitting interatrial shunting, the options in the setting of deficient ventricular septation, and the abnormal morphology of the aortic root. We show that not all centers, as yet, are taking advances of these opportunities at hand to tailor the chosen treatments. <b>Conclusions</b>: Detailed phenotypic definitions have now been provided for all the major congenital cardiac malformations. Use of these definitions should now provide personalized medicine for all those born with malformed hearts. As yet, the definitions are not used to their full effect.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 3","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710365","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}