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Draft Genome of Naganishia uzbekistanensis from a Clinical Pulmonary Infection.
Mycopathologia
January 2025
Department of Laboratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, 100730, China.
This study presents the first high-quality assembled genome of Naganishia uzbekistanensis, derived from a clinical isolate CY11558 obtained from a patient with a postoperative pulmonary infection. This work provides an improved reference assembly for downstream research and diagnosis of infections caused by this species.
View Article and Find Full Text PDFRisk and protective factors of disease flare during pregnancy in systemic lupus erythematosus: a systematic review and meta-analysis.
Clin Rheumatol
January 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 1 Shuaifuyuan, Beijing, 100730, China.
To synthesize available evidence on predictive factors associated with systemic lupus erythematosus (SLE) flares during pregnancy, we systematically searched MEDLINE, Embase, and the Cochrane Library through January 2024 for observational studies on risk and protective factors of SLE flares during pregnancy. Odds ratios (OR) and mean differences (MD), as well as their 95% confidence intervals (CI) were used to quantify effect sizes. We employed fixed-effect or random-effect models based on heterogeneity assessments (I statistics).
View Article and Find Full Text PDFPreclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency.
Commun Med (Lond)
January 2025
Rare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Background: Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. There are no available targeted therapies for MSD.
Methods: We engineered a viral vector (AAV9/SUMF1) to deliver working copies of the SUMF1 gene and tested the vector in Sumf1 knock out mice that generally display a median lifespan of 10 days.
Description of current status of implementation and management of cardiac arrest in China.
Sci Rep
January 2025
Emergency Department, The State Key Laboratory for Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Variation in the incidence, survival rate and factors associated with survival after cardiac arrest in China is reported. Some studies have tried to fill the knowledge gap regarding the epidemiology of cardiac arrest in China but were unable to identify reasons for the reported differences. Therefore, the purpose of this study was to describe Chinese management of cardiac arrest, particularly from the perspective of compression, ventilation, monitoring, treatment, and extracorporeal cardiopulmonary resuscitation.
View Article and Find Full Text PDFComputer simulation approaches to evaluate the interaction between analytical performance characteristics and clinical (mis)classification: a complementary tool for setting indirect outcome-based analytical performance specifications.
Clin Chem Lab Med
January 2025
Rare Diseases Department, General Directorate of Health Services, Turkish Ministry of Health, Ankara, Türkiye.
Simulation-based approaches for setting indirect outcome-based analytical performance specifications (APS) predominantly involve test repetition through analytical reruns or resampling. These methodologies assess the agreement between original and simulated measurement results, determining the APS corresponding to pre-established performance thresholds. For APS related to imprecision and bias, both analytical performance characteristics (APCs) are typically considered in simulations, whereas for APS regarding measurement uncertainty, bias is excluded in alignment with traceability standards.
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