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Efficacy of geneguided preemptive therapy for prevention of relapse in acute myeloid leukemia after transplantation and its optimal intervention threshold.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
July 2024
Department of Hematology, Xiangya Hospital, Central South University, Changsha 410008.
Objectives: Monitoring minimal residual disease (MRD) and timely intervention are effective strategies for preventing relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in adult acute myeloid leukemia (AML). The gene, a pan-leukemia marker, can be used as an indicator for MRD monitoring in AML patients. Currently, there is no unified standard for the intervention timing or treatment threshold based on gene detection after transplantation.
View Article and Find Full Text PDFLong-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.
Orphanet J Rare Dis
January 2025
Division of Pediatric Epileptology, Department of Pediatrics I, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760-1:13,520 live births in Germany. On the molecular level, TSC is caused by heterozygous loss-of-function variants in either of the genes TSC1 or TSC2, encoding the Tuberin-Hamartin complex, which acts as a critical upstream suppressor of the mammalian target of rapamycin (mTOR), a key signaling pathway controlling cellular growth and metabolism. Despite the therapeutic success of mTOR inhibition in treating TSC-associated manifestations, studies with mTOR inhibitors in children with TSC above two years of age have failed to demonstrate beneficial effects on disease-related neuropsychological deficits.
View Article and Find Full Text PDFEnhancing the Integration of Pre-Emptive Pharmacogenetic (PGx) Testing in Primary Care: Prioritizing Underserved Patients' Preferences in Implementation.
J Pers Med
November 2024
Department of Health Outcomes and Biomedical Informatics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
: The integration of pharmacogenetic (PGx) testing into primary care has not been widely implemented, despite its benefits for patients and providers. PGx testing could also reduce health disparities as patients with lower healthcare access are prescribed higher proportions of medications with PGx guidelines. Little is known about the preferences of patients who have experienced PGx testing to inform implementation across the care process.
View Article and Find Full Text PDFInfections in acute liver failure - Assessment, prevention, and management.
Best Pract Res Clin Gastroenterol
December 2024
Department of Gastrointestinal Surgery and Solid Organ Transplant, Amrita Institute of Medical Sciences and Research Centre, Amrita University, Kochi, Kerala, India. Electronic address:
Article Synopsis
- * Multi-drug resistant infections are common due to prolonged ICU stays and various medical interventions, emphasizing the importance of strict infection control practices.
- * Diagnosis relies on blood cultures, supported by specific markers for identifying types of infections, with therapy tailored based on culture results from respiratory infections.
Audit for antifungal treatment usage in adults with invasive fungal infection: A prospective observational study.
Indian J Med Microbiol
December 2024
Department of Microbiology, All India Institute of Medical Sciences, New Delhi, India. Electronic address:
Objective: The antifungal audit aimed to evaluate antifungal usage in a tertiary care center. It focused on patient profiles, the appropriateness of antifungal use, associated adverse drug reactions, reasons for suboptimal usage, and the economic burden caused by prolonged non-optimal antifungal use.
Methodology: Conducted at All India Institute of Medical Sciences, New Delhi, India from January 2019 to December 2020, the study evaluated systemic antifungal use in 100 hospitalized adults with invasive fungal infections.
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