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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFRisk factors associated with the failure of local methotrexate combined with minimally invasive surgery for late cesarean scar pregnancy.
BMC Pregnancy Childbirth
January 2025
Department of Gynecology, Shenyang Women's and Children's Hospital, No. 87 Renao Road, Shenyang, Liaoning Province, 110011, China.
Background: This study aimed to investigate the risk factors related to the failure of initial combined local methotrexate (MTX) treatment and minimally invasive surgery for late cesarean scar pregnancy (CSP).
Methods: This retrospective case-control study was conducted between January 2016 and December 2023, involving patients with late CSP (≥ 8 weeks) who received local MTX injection combined with either hysteroscopic or laparoscopic surgery. Cesarean scar pregnancy was classified as type I, II, or III based on the direction of growth of the gestational sac and the residual myometrial thickness as assessed by ultrasound.
Association of homocysteine and uric acid with type 2 diabetes mellitus: a case-control study.
Sci Rep
January 2025
School of Public Health, Ningxia Medical University, Yinchuan, 75004, China.
The aim of this study was to examine the association between homocysteine (Hcy), uric acid (UA) and type 2 diabetes mellitus (T2DM), and to explore whether there was an interaction between Hcy and UA in the development of T2DM. A total of 1250 diabetic patients and 1250 non-diabetic controls were included in this case-control study. Binary logistic regression and interaction analysis were used to evaluate the association between Hcy, UA, and T2DM, and the combined effects of Hcy and UA on T2DM, respectively.
View Article and Find Full Text PDFOrphan nuclear receptor NR2E3 is a new molecular vulnerability in solid tumors by activating p53.
Cell Death Dis
January 2025
Center for Precision Medicine Research, Marshfield Clinic Research Institute, Marshfield Clinic Health System, Marshfield, WI, USA.
The orphan nuclear receptor NR2E3 has emerged as a potential tumor suppressor, yet its precise mechanisms in tumorigenesis require further investigation. Here, we demonstrate that the full-length protein isoform of NR2E3 instead of its short isoform activates wild-type p53 and is capable of rescuing certain p53 mutations in various cancer cell lines. Importantly, we observe a higher frequency of NR2E3 mutations in three solid tumors compared to the reference population, highlighting its potential significance in tumorigenesis.
View Article and Find Full Text PDFGlobal research interest and publication trends on guided surgery in implant dentistry: A metrics-based analysis.
J Prosthet Dent
January 2025
Professor, Department of Dentistry, Federal University of Santa Catarina (UFSC), Florianopolis, SC, Brazil.
Statement Of Problem: Digital surgical guides improve precision by detailing the direction, position, and angle of implants, which reduces surgery time and complications. A bibliometric analysis of guided surgery in implant dentistry is lacking.
Purpose: The aim of this metrics-based analysis was to analyze the trends and key characteristics of articles related to guided surgery in implant dentistry.
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