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A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes

Abstract: The likely pathogenic variant c.407A>T p.Asp136Val of the LMNA gene has been recently described in a young woman presenting with atypical progeroid syndrome, associated…

Date: 2023-09-26

Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case Report

Abstract: Lactic acidosis is characterized by an excessive production of lactic acid or by its impaired clearance. Thiamine deficiency is an uncommon cause of lactic acidosis,…

Date: 2023-09-26

Comparison of Bilevel Volume Guarantee and Pressure-Regulated Volume Control Modes in Preterm Infants

Abstract: The present study aimed to compare the bilevel volume guarantee (VG) and pressure-regulated volume control (PRVC) modes of the GE® Carescape R860 model ventilator and…

Date: 2023-09-26

Collecting Paediatric Health-Related Quality of Life Data: Assessing the Feasibility and Acceptability of the Australian Paediatric Multi-Instrument Comparison (P-MIC) Study

Abstract: Background: Collecting data using paediatric health-related quality of life (HRQoL) instruments is complex, and there is a paucity of evidence regarding the comparative…

Date: 2023-09-26

RADAP as an Immune-Related Prognostic Biomarker and Therapeutic Response Predictor in Hepatocellular Carcinoma

Abstract: Liver cancer is the sixth most widespread cancer and the fourth primary cause of cancer-related death. Its incidence and mortality may keep rising by . Hepatocellular…

Date: 2023-09-26