Ellisonegelund7688
TRMU is a nuclear gene crucial for mitochondrial DNA translation by encoding tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase, which thiolates mitochondrial tRNA. Biallelic pathogenic variants in TRMU are associated with transient infantile liver failure. Other less common presentations such as Leigh syndrome, myopathy, and cardiomyopathy have been reported. Recent studies suggested that provision of exogenous L-cysteine or N-acetylcysteine may ameliorate the effects of disease-causing variants and improve the natural history of the disease. Here, we report six infants with biallelic TRMU variants, including four previously unpublished patients, all treated with exogenous cysteine. We highlight the first report of an affected patient undergoing orthotopic liver transplantation, the long-term effects of cysteine supplementation, and the ability of the initial presentation to mimic multiple inborn errors of metabolism. We propose that TRMU deficiency should be suspected in all children presenting with persistent lactic acidosis and hypoglycemia, and that combined N-acetylcysteine and L-cysteine supplementation should be considered prior to molecular diagnosis, as this is a low-risk approach that may increase survival and mitigate the severity of the disease course.
Alglucerase enzyme replacement therapy was approved for Gaucher disease (GD) in the United States in 1991; imiglucerase in 1994. We report hematologic, visceral, bone pain, bone crisis, height, weight, and Body Mass Index (BMI) outcomes in patients treated for 20 (±3) years with subset analyses based on pre-treatment severity, genotype, and age at treatment initiation.
GD type 1 (GD1) patients in the ICGG Gaucher Registry with complete sets of baseline, 10-year, and 20-year data are included (N=475). Ten-year and 20-year data are compared to pre-treatment baseline, stratified by splenectomy status.
Non-splenectomized patients Improvements observed at 10years were maintained at 20years for most outcomes. Mean changes from baseline at 10 and 20years, respectively, were spleen volume 18.2 multiples of normal (MN) to 5.1 MN and 4.2 MN; liver volume 1.8 MN to 1.0 MN and 1.0 MN; hemoglobin 11.4g/dL to 13.7g/dL and 13.8g/dL; platelet count 91.6×10
/L to 168.0×10
/L and 169.1×10
/L; without bone crisis 85.0%lenectomized patients. These results are consistent when analyzed by different patient subsets, including by disease severity.
Imiglucerase is an effective, long-term treatment for GD1. In a long-term observational setting, improvements seen during early treatment years are sustained by continuing treatment for 20 years, except for bone pain in non-splenectomized patients. These results are consistent when analyzed by different patient subsets, including by disease severity.Sickle cell disease (SCD) is one of the most common monogenic disorders worldwide and affects approximately 100,000 people in the United States alone. SCD can cause numerous complications, including anemia, pain, stroke, and organ failure, which can lead to death. Although there are a few disease-modifying treatments available to patients with SCD, the only current curative option is a hematopoietic stem cell transplant (HSCT). In this review, we will discuss the different approaches to allogeneic HSCT in the treatment of SCD and the outcomes of these approaches.
Numerous potential predictors of adverse outcomes have been reported but their performance and utilization in practice seem heterogenous. This study aimed to systematically review the literature on the role and value of predictors of complications after hepatectomy.
A systematic review following the PRISMA guidelines was performed. Studies on liver transplant were excluded. Only studies assessing overall or major complications were included.
A total of 10'965 abstracts were screened. After application of exclusion criteria, 72 articles including 68'480 patients were included. A total of 72 markers with 48 pre-, 9 intra- and 15 postoperative factors were identified as predictors of complications. Pirtobrutinib Preoperative and intraoperative predictive markers retrieved several times with the highest odds ratios (OR) were ASA score (OR range 1.3-7.5, significant in 8 studies) and intraoperative need for red blood cell transfusion (OR range 1.2-17.1, significant in 24 studies), respectively.
Numerous markers have been described to predict the complication risk after hepatectomy. Because of their intrinsic characteristics, most markers such as ASA score and need for red blood cell transfusion are of limited clinical interest. There is a clear need to identify new biomarkers and to develop scores that could easily be implemented in clinical practice.
Numerous markers have been described to predict the complication risk after hepatectomy. Because of their intrinsic characteristics, most markers such as ASA score and need for red blood cell transfusion are of limited clinical interest. There is a clear need to identify new biomarkers and to develop scores that could easily be implemented in clinical practice.Transient global amnesia (TGA) is an uncommon disease characterized by sudden onset anterograde amnesia that typically improves within 24 hours. A 35-year-old woman presented with complete disruption of memory that had started on the previous day. She had fever and heart murmur and was diagnosed as having infective endocarditis with Staphylococcus lugdunensis, a coagulase-negative staphylococcus. Septic embolizations were found in the spleen and kidney on CT scan. The patient underwent aortic valve replacement. MRI susceptibility-weighted imaging showed a dotted low intensity area in the right hippocampus. Recently, etiology of TGA is reported to be related to hippocampal disorder. We report a rare case of TGA with hippocampal infarction due to septic embolism from infective endocarditis.A considerable portion of our knowledge on T and B cell biology is acquired from research using acute lymphoblastic leukemia (ALL) cell lines, which are invaluable tools used in many immunology and leukemia studies. Here, we discuss the advantages and limitations of ALL cell lines and provide guidelines on their proper usage.
