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Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Int J Neonatal Screen
January 2025
Key Proteo, Inc., Seattle, WA 98122, USA.
For many genetic disorders, there are no specific metabolic biomarkers nor analytical methods suitable for newborn population screening, even where highly effective preemptive treatments are available. The direct measurement of signature peptides as a surrogate marker for the protein in dried blood spots (DBSs) has been shown to successfully identify patients with Wilson Disease (WD) and three life-threatening inborn errors of immunity, X-linked agammaglobulinemia (XLA), Wiskott-Aldrich syndrome (WAS), and adenosine deaminase deficiency (ADAD). A novel proteomic-based multiplex assay to detect these four conditions from DBS using high-throughput LC-MS/MS was developed and validated.
View Article and Find Full Text PDFA Series of 40 Congenital Lung Malformation Cases and the Informative Value of CPAM Lesion Ratios.
Pediatr Rep
January 2025
Clinic for Pediatric Surgery, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Introduction: In this single-center retrospective analysis, we present case data and insights gathered over the past eight years. Additionally, we computed postnatal, pre-therapy lesion-to-lung ratios of Congenital Pulmonary Airway Malformations (CPAMs) to retrospectively assess potential outcome prediction using lesion-to-lung ratios.
Methods: Data were collected between 2015 and 2022.
Identification of subtrochanteric and femoral shaft fractures as atypical femur fractures on radiology reports.
Acta Radiol
January 2025
Department of Orthopedics and Experimental and Clinical Medicine, Faculty of Health Science, Linköping University, Linköping, Sweden.
Background: Bisphosphonate-associated stress fractures, atypical femur fractures (AFF), are a rare subgroup of femoral stress fractures. Their correct and early diagnosis is imperative for appropriate treatment.
Purpose: To investigate the sensitivity of written radiology reports to mention radiographic features of AFF, depending on the time period and academic level of the hospital.
Atherogenic index of plasma and coronary artery disease: a systematic review and meta-analysis of observational studies.
Cardiovasc Diabetol
January 2025
Cardiovascular Diseases Research Institute, Tehran Heart Center, Tehran University of Medical Sciences, North Kargar Ave, Tehran, 1995614331, Iran.
Background: Atherogenic index of plasma (AIP), a novel logarithmic index that combines fasting triglyceride and high-density lipoprotein cholesterol concentrations, is associated with the burden of atherosclerosis. This study aimed to evaluate the relationship between AIP and coronary artery disease (CAD) risk, severity, and prognosis in populations with and without established CAD.
Methods: PubMed, Embase, and Web of Science were systematically searched from the inception of each database to August 13, 2024.
A case of Staphylococcus saprophyticus bacteremia caused by obstructive pyelonephritis.
J Infect Chemother
January 2025
Department of Infectious Diseases, Kameda Medical Center, 929 Higashi-cho, Kamogawa, 296-8602, Japan.
Herein, we present the case of a 64-year-old woman diagnosed with left calculous pyelonephritis. Gram-positive cocci in clusters were isolated from two sets of her blood culture. These cocci were later identified as Staphylococcus saprophyticus.
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