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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.
Mol Med
January 2025
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities.
View Article and Find Full Text PDFAssociation between lactate dehydrogenase levels and all-cause mortality in ICU patients with heart failure: a retrospective analysis of the MIMIC-IV database.
BMC Cardiovasc Disord
January 2025
Nanhai Family Practice Hospital, Foshan, Guangdong, 528200, People's Republic of China.
Background: Heart failure (HF) patients admitted to the intensive care unit (ICU) often face high short-term mortality rates. This study aims to investigate the relationship between lactate dehydrogenase (LDH) levels and all-cause mortality in critically ill patients with HF.
Methods: Data from the MIMIC-IV database were extracted for subjects eligible for HF diagnosis.
Long-Term Outcomes of Regional Morphology in Spring-Assisted Surgery and Cranial Vault Remodeling.
Plast Reconstr Surg
February 2025
From the Departments of Plastic and Reconstructive Surgery.
Background: Spring-assisted surgery (SAS) and cranial vault remodeling (CVR) are widely used surgical techniques to correct sagittal craniosynostosis (SC). The authors evaluated changes in regional morphology of patients with SC who had undergone SAS or CVR, using the frontal bossing index (FBI), occipital bulleting index, vertex narrowing index (VNI), and scaphocephalic severity index (SCI) to capture differences in anterior protrusion, posterior protrusion, width restriction, and global dysmorphology, respectively.
Methods: Indices were measured on computed tomography and 3-dimensional photographs (n = 788) of 257 patients with SC from 2001 through 2022 who underwent SAS (n = 177) or CVR (n = 80).
Online patients questions regarding reverse total shoulder arthroplasty pertain to timeline of recovery, specific activities, and limitations.
JSES Rev Rep Tech
February 2025
Department of Orthopaedic Surgery, New York-Presbyterian Hospital/Columbia University Medical Center, New York, NY, USA.
Background: Reverse total shoulder arthroplasty (rTSA) demonstrates favorable long-term data and has outpaced anatomic total shoulder arthroplasty and hemiarthroplasty as the most-performed shoulder arthroplasty procedure. As indications and outcomes continue to favor rTSA, patients may turn to the internet as an efficient modality to answer various questions or concerns. This study investigates online patient questions pertaining to rTSA and the quality of the websites providing information.
View Article and Find Full Text PDFThe optimal annual case volume for acute type A aortic dissection surgery in relation to long-term outcomes.
Eur J Cardiothorac Surg
January 2025
Department of Cardiothoracic Surgery, Maastricht University Medical Centre (MUMC+), Netherlands.
Objectives: Previous analyses of the volume-outcome relationship have focused on short-term outcomes such as early mortality. The current study aims to update a novel statistical methodology, facilitating the evaluation of the relation between procedural volume and time-to-event outcomes such as long-term survival, using surgery for acute type A aortic dissection as an illustrative example.
Methods: This study employed an existing dataset of type A dissection outcomes, retrieved from literature.
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