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Despite great therapeutic advances in the field of biologics, small synthetic molecules such as thiopurines, including azathioprine, mercaptopurine, and thioguanine, remain an important therapeutic pillar in the treatment of inflammatory bowel disease, other autoimmune disorders, and cancer. This review presents the latest guidelines for thiopurine administration, highlighting the importance of individualized therapy guided by pharmacogenomics. It emphasizes dose adjustment based on nudix hydrolase 15 ( NUDT15 ) and thiopurine S -methyltransferase ( TPMT ) genotype, along side thiopurine S -methyltransferase activity and thiopurine metabolic profile. In addition, the article takes a critical look at emerging research in the field of thiopurine pharmaco genomics featuring novel genetic markers and technological developments in genetic testing. Finally, the potential of integrated approaches that combine genetic, meta bolic, and clinical factors to further individualize thiopurine therapy is highlighted., (© 2024 Dunja Urbančič et al., published by Sciendo.)

Advances in research, including novel biomarker identification and patient stratification, have significantly improved the therapy for childhood acute lymphoblastic leukemia (ALL), though access to improved healthcare services varies across geographical regions. In an effort to evaluate the advances in therapeutic approaches, we performed a retrospective analysis of childhood ALL in Kosovo. Our retrospective analysis included 225 cases diagnosed between 2008 and 2023, representing 52% of 429 diagnosed childhood cancers. The average annual incidence was 14, with a median age diagnosis of seven years, and a male predominance (59.54%). Patients were categorized into risk groups, with the majority (43%) in the standard-risk category. We identified five different treatment protocols for this study period. Over 61% of patients achieved remission after the first chemotherapy cycle and we observed a 20% mortality rate. Survival analysis showed that 55% and 40% of patients achieved 2-year and 5-year event-free survival (EFS), respectively, with significant differences across risk groups. Treatment advancements significantly correlated with improved survival rates, achieving a 5-year overall survival (OS) of 88% in the currently used standardized AIEOP-BFM-2009 protocol. Our study emphasizes the need for continued research and customized care strategies to enhance clinical outcomes.

Competing Interests: The authors declare no competing interests.

Introduction and objectives Liver transplantation and its indications represent an increased burden on patients' health. This can be represented in a variety of ways, such as in emergency visits, unscheduled clinic visits, and unanticipated admissions. This study aims to analyze emergency department (ED) visits, the most common presenting complaints, and the outcomes of those visits. Methods A retrospective observational study was performed in which electronic medical records were reviewed for all patients who underwent liver transplantation and presented to the emergency department between October 2011 and October 2021. The following data were collected: demographics, comorbidities, liver transplant features, and emergency department visit data and outcomes. Recurrent visits were assessed and labeled as first, second, third, fourth, and fifth or more. Results A total of 699 patients and 5,225 visits were included in the analysis. Living donors accounted for 80% of all transplants. The mean post-operative length of stay was 22.6 ± 17.8. The majority of patients (74%) had at least one comorbidity, with diabetes (47%), hypertension (31%), and chronic kidney disease (CKD) (16%) being the commonest comorbidities; however, comorbidities were not associated with an increased risk of emergency department visits. Out of the 5,225 visits to the emergency department, 2,265 (41%) were within the first year. Emergency department visits in the first seven days after discharge amounted to 22% of total first visits. By 30 days, six months, and one year, they increased to 46%, 83%, and 91%, respectively. Living donor recipients had an average of 7.3 ED visits as compared to deceased donor recipients, who had an average of 8.4 ED visits. The most common presenting complaints were gastrointestinal (GI) symptoms (18%), infectious disease symptoms (9%), and respiratory symptoms (8%). There were a total of 296 patients who were readmitted at least once since discharge after liver transplantation. Conclusion The majority of first-time presentations to ED occurred in the first year post-transplant, marking this time period as critical for liver transplant patients. Our study also highlighted the continual presentations of liver transplant patients to the ED a few years post-transplant. This requires close scrutiny of the main causes of such presentations as well as comparison with other transplant cases to identify whether they are specific to liver transplants or not., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Aljumaa et al.)

Introduction: An increasing number of pediatric patients with inherited metabolic disorders are reaching adulthood. In addition, many patients are diagnosed for the first time in adult life due to improved awareness of these disorders and the availability of advanced diagnostic technology. Knowledge of these inherited metabolic disorders in adults is crucial for the emergency physician to promptly recognize their acute illness and appropriately manage them in the emergency department., Objective: This review provides an overview of various inherited metabolic disorders which present to the emergency department with acute metabolic decompensation., Evaluation and Management: Acute illness in these patients is often triggered by a catabolic event such as intercurrent illness, fasting, postpartum, or use of certain medication. It may present in a variety of ways related to severe hyperammonemia, metabolic acidosis, leucine encephalopathy or hypoglycemia. In this review, we describe the clinical presentation, evaluation and immediate management of their critical illness in the emergency department., Conclusion: Acute metabolic decompensation is a life-threatening condition. The emergency physician is usually the first provider to evaluate these patients when they present to the emergency department. Early recognition of their illness and prompt management of these cases improve patient outcomes., Competing Interests: Declaration of Competing Interest All authors declare no competing interest., (Copyright © 2022 Elsevier Inc. All rights reserved.)