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Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine.
Orphanet J Rare Dis
January 2025
Institute for Inherited Metabolic Disorders, Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.
Background: Mucopolysaccharidosis (MPS) are a group of lysosomal storage diseases with substantial unmet medical needs-for both patients and caregivers. Approved therapies are limited, and the perception of investigative ones remains enigmatic.
Method: Using an innovative survey concept based on the discrete choice experiment method (DEC) with neuronopathic and non-neuronopathic patient scenarios, we aimed to evaluate how parents of children with MPS perceive different approved and innovative therapies.
Assessment of Organ Donation Knowledge and Attitudes Among Patients Visiting the Nephrology Outpatient Clinic at a Tertiary Healthcare Facility.
Omega (Westport)
January 2025
Department of Nephrology, Firat UniversityHospital, Elazig, Turkey.
This study aims to assess the knowledge levels, attitudes, and influencing factors related to organ donation among patients who visited the Nephrology outpatient clinic. This descriptive and cross-sectional research had 269 participants. Research data were collected utilizing a three-part questionnaire.
View Article and Find Full Text PDFAssociations between dialysis modality and adherence to immunosuppression after kidney transplantation-A single-center study.
PLoS One
January 2025
Helsinki University Hospital, Abdominal Centre, Transplantation and Liver Surgery, and University of Helsinki, Helsinki, Finland.
Background: Patients with end-stage kidney disease often prefer home-based dialysis due to higher self-efficacy, which relates to improved medical treatment adherence. Kidney transplantation (KT) success depends on adhering to immunosuppressive medication post-transplant.
Objectives: To investigate whether adherence post-kidney transplantation (KT) and patients' attitudes toward immunosuppression were influenced by their prior dialysis type modality.
METTL3: a multifunctional regulator in diseases.
Mol Cell Biochem
January 2025
Department of Vascular Surgery, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.
N6-methyladenosine (mA) methylation is the most prevalent and abundant internal modification of mRNAs and is catalyzed by the methyltransferase complex. Methyltransferase-like 3 (METTL3), the best-known mA methyltransferase, has been confirmed to function as a multifunctional regulator in the reversible epitranscriptome modulation of mA modification according to follow-up studies. Accumulating evidence in recent years has shown that METTL3 can regulate a variety of functional genes, that aberrant expression of METTL3 is usually associated with many pathological conditions, and that its expression regulatory mechanism is related mainly to its methyltransferase activity or mRNA posttranslational modification.
View Article and Find Full Text PDFRate and Timing of Progression to Total Knee Arthroplasty After Anterior Cruciate Ligament Reconstruction in Patients With Systemic Inflammatory Disease: A Long-term Propensity-Matched Cohort Study.
Am J Sports Med
January 2025
Department of Orthopedic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
Background: Anterior cruciate ligament reconstruction (ACLR) is one of the most common orthopaedic procedures and one of the most well studied. Despite extensive research dedicated to ACLR, there is limited understanding of how chronic inflammatory systemic diseases (CIDs) such as rheumatoid arthritis and systemic lupus erythematosus affect outcomes.
Purpose: To compare the outcomes of ACLR in cohorts of patients with and without CID.
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