Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series.

Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and a high risk of myeloid malignancy. Most patients with SDS harbor nonsense mutations in Shwachman-Bodian-Diamond syndrome gene (SBDS), which encodes a ribosome assembly factor. We investigated the translational read-through effect of ataluren in three patients with SDS undergoing a compassionate use program for twelve months.

Blood glucose measurement inside and outside the laboratory: both preanalytical and analytical challenges.

Glucose measurement is a critical investigation in metabolic disease management, especially in diabetes and inherited disorders. However, both laboratory-based and handheld point-of-care (HPOC) (glucometers) glucose testing face significant preanalytical and analytical challenges. In central laboratories, glycolysis in uncentrifuged samples leads to glucose consumption, which may compromise diagnostic accuracy.

Global-of-care testing (GOCT): emerging challenges for laboratory medicine network.

The coronavirus disease 2019 (COVID-19) pandemic has placed laboratory medicine at the forefront of public health and clinical care. Larger use of social media and official communication platforms raised public awareness of laboratory science, driving demand for rapid, accurate diagnostic information and shifting expectations around access and interpretation of testing. Laboratory medicine, rooted in accuracy, precision, reproducibility and clinical relevance, has advanced from basic diagnostics to sophisticated molecular and data-driven platforms.

Improving diagnosis in health care: laboratory medicine.

Accurate and timely diagnosis remains one of the most complex and challenging processes in medicine. Diagnostic errors pose a significant burden on patients and healthcare systems, with laboratory-related errors playing a substantial role, especially in the pre- and post-analytical phases of the testing process. However, recent innovations have mitigated some key challenges by optimizing workflows and reducing human errors.

Improved potassium reliability in whole blood through hemolysis detection on the novel GEM Premier 7000 blood gas analyzer.

Background: Hemolysis is the most frequent preanalytical error in clinical laboratories, but its detection in point-of-care (POC) settings remains challenging due to the lack of sample separation. This study was planned to validate the hemolysis index (HI) threshold of GEM Premier 7000 blood gas analyzer for detecting hemolysis levels that may generate clinically significant interference in potassium measurement.

Methods: Heparinized whole blood samples were collected from healthy volunteers and divided into six aliquots; one was used as non-hemolyzed control, while hemolysis was mechanically induced in the remaining five aliquots by repeated aspirations through a fine-gauge needle.

Overview of laboratory diagnostics for immediate management of patients presenting to the emergency department with acute bleeding.

Acute, life-threatening bleeding is a relatively common but critical presentation in the emergency department (ED), needing immediate assessment and intervention to reduce morbidity and mortality. Rapid identification of the bleeding source, evaluation of hemostatic function, and timely initiation of resuscitation are essential components of early management. Laboratory diagnostics plays a central role in this process, enabling clinicians to stratify the risk, guide therapeutic decisions, and predict outcomes.

The increasing association of pulmonary embolism with cancer deaths: A seven-year, US-based, nationwide analysis.

Objective: To establish the association between pulmonary embolism (PE) and cancer deaths.

Study Design: Retrospective, observational.

Methods: We performed a retrospective analysis using data from the WONDER database, analyzing the number of deaths associated with cancer and PE between 2018 and 2024 in the US, calculating mortality rates and assessing temporal trends using Poisson regression analysis.

Temporal Trends in Pulmonary Embolism Mortality Associated with COVID-19 in the United States: A 5-Year Retrospective Analysis.

Coronavirus disease 2019 (COVID-19) has been strongly associated with thrombotic complications, particularly pulmonary embolism (PE). This study aims to analyze the real-world impact of COVID-19 on PE-related mortality in the United States over the first 5 years of the pandemic. We conducted a retrospective observational study using the CDC WONDER database, combining data on mortality from PE and COVID-19 using the 10th revision of the International Classification of Diseases (ICD-10) codes I26 (PE) and U07.

Correction: Nocini et al. Improving Nasal Protection for Preventing SARS-CoV-2 Infection. 2022, , 2966.

In the original publication [...

Sudden Cardiac Arrest and Death in Sports: An Updated Overview of Epidemiology, Etiologies, and Prevention Strategies, with Emphasis on Inherited Cardiomyopathies.

Sudden cardiac arrest (SCA) and sudden cardiac death (SCD) in sports, although rare, remain pressing concerns with rising global participation in athletics. Recent epidemiological analyses indicate that incidence of SCA/SCD in athletes is low and has remained relatively stable over the past two decades. However, outcomes have improved as survival rates increase, reflecting advances in emergency response.

Effects of GM1 ganglioside and its derivatives on ETI-rescued F508del-CFTR maturation and host-pathogen interactions in cystic fibrosis bronchial cells.

Cystic Fibrosis (CF), a life-threatening hereditary disease, arises from mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which encodes a chloride-conducting channel widely expressed in epithelial cells. The most common mutation, F508del, causes CFTR misfolding, premature degradation, and impaired mucociliary clearance, leading to recurrent respiratory infections and inflammation. The triple combination therapy with Elexacaftor, Tezacaftor, and Ivacaftor (ETI) has revolutionized CF management by partially restoring mutated CFTR function.

A Comparative Evaluation of the Chemiluminescence Immunoassay and ELISA for the Detection of Islet Autoantibodies in Type 1 Diabetes.

The early detection of type 1 diabetes (T1D) through screening for major islet autoantibodies is receiving increasing attention as a public health strategy, exemplified by the recent implementation of a pilot pediatric screening program in Italy. The transition from research-based screening to large-scale population initiatives needs automated and standardized assays that are capable of processing extensive sample volumes. Hence, this study aimed to evaluate the analytical performance and comparability of a fully automated chemiluminescence immunoassay (CLIA) compared to a conventional enzyme-linked immunosorbent assay (ELISA) for the detection of three classes of major islet antibodies-anti-GAD (GADA), anti-IA-2 (IA-2A), and anti-ZnT8 (ZnT8A).

The use of the hemolysis index as an indirect indicator of whole blood sample quality.

Objectives: The aim of this study is to assess the discrepancies between potassium values obtained from point-of-care testing and laboratory analyzers, and to propose a straightforward method to indirectly assess the likelihood of hemolysis in whole blood samples.

Methods: The data were collected from 409 hospitalized patients (199 males, 210 females; median age 78 years, interquartile range 55-87) in whom were simultaneously requested the blood gas profile, including electrolytes (Na, K, Cl and Ca) on the GEM Premier 5000 blood gas analyzer and K in plasma samples on the Cobas analytical system.

Results: The Wilcoxon test showed a significant difference (p<0.

Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia.

Fanconi anemia (FA) is caused by mutations affecting FANC genes involved in DNA repair, with nearly 20% of FA patients harboring nonsense mutations. Ataluren (PTC124) is a translational read-through-inducing drug (TRID) already approved in Europe that has a well-established safety profile even in pediatric patients. Amlexanox, an anti-inflammatory drug, also promotes read-through of premature stop codons caused by nonsense mutations.

Detecting cardiac injury: the next generation of high-sensitivity cardiac troponins improving diagnostic outcomes.

Cardiac injury, encompassing a spectrum of heart muscle damage, requires prompt and accurate diagnosis to improve patient outcomes. Early detection using cardiac biomarkers is vital for timely intervention and reducing mortality. This review highlights the role of high-sensitivity cardiac troponins (hs-cTns) in diagnosing cardiac injury.