Vasodilator drugs and heart-related outcomes in systemic sclerosis: an exploratory analysis.

Background And Aims: Systemic sclerosis (SSc) is an autoimmune connective disease characterised by excessive extracellular matrix deposition and widespread skin and internal organ fibrosis including various cardiac manifestations. Heart involvement is one of the leading causes of death among patients with SSc. In this study, we aimed to assess the effect of various vasodilator treatments.

Key priorities for the implementation of the 2023 ESC Guidelines for the Management of Cardiomyopathies in low resource settings.

ESC Guidelines provide best practice, evidence-based recommendations for diagnosing and treating patients with cardiovascular diseases. It is not always possible for best practices to be followed, however, particularly in low-resource settings. To address this issue, a set of guideline-related documents were created to identify key priorities for users in these settings.

Hereditary angioedema in children: Review and practical perspective for clinical management.

Background: Hereditary angioedema (HAE) in children has specific features and requires multidisciplinary management.

Methods: We performed a literature search and underwent in-depth discussions to provide practical tools for physicians.

Results: HAE is a rare, life-threatening genetic disorder.

Online survey on existing sarcoidosis registries and biobanks: an ERN lung initiative.

The present survey, promoted by the European Reference Network on rare respiratory diseases (ERN-Lung, Core Networks Sarcoidosis and ILD), aims to assess the existing sarcoidosis registries and biobanks across Europe and to compare the various types of biospecimen collected, the different procedures performed, and the sample storage conditions applied. This survey was initiated by the European Reference Network on rare respiratory diseases (ERN-Lung) Core Network "Sarcoidosis" in April 2023. The survey was launched by ERN-Lung Core Network "Sarcoidosis" in August 2023 and remained active until end of February 2024.

Expert consensus on the off-label use in China of drugs for rare hematologic diseases (2024 edition).

Drug package inserts are a crucial foundation for clinical medication practices and serve as the legal basis for guiding rational drug use and ensuring patient safety and efficacy. As rare disease treatments evolve, current package inserts often need to meet the clinical requirements for treating such conditions, frequently resulting in off-label drug use. This consensus is derived from discussions between Guangdong Pharmaceutical Association Hematologic Rare Diseases Group experts.

Review: Clinical findings and genetic characterization of children affected with X-linked retinoschisis in the Spanish population.

X-linked retinoschisis (XLRS) is an inherited retinal disorder due to mutations in retinoschisin 1, characterized by impaired central vision secondary to parafoveal cystic cavities and visual field loss by splitting through the retinal nerve fibre layer in the peripheral retina. It is the leading cause of juvenile macular degeneration in males, and currently there is no approved treatment but carbonic anhydrase inhibitors can be used. A retrospective review of the medical records of 17 children with confirmed XLRS seen in the Paediatric Ophthalmology Department of La Paz University Hospital from the 1st of January 2009 to the 1st of June of 2023 was conducted.

Clarithromycin for improved clinical outcomes in community-acquired pneumonia: A subgroup analysis of the ACCESS trial.

Background: In the ACCESS trial, the addition of clarithromycin to standard-of-care antibiotics (SoC) enhanced early clinical response and attenuated the inflammatory burden in adults with community-acquired pneumonia (CAP) requiring hospitalisation. A post-hoc analysis was performed to investigate the benefit in specific subgroups.

Methods: The primary endpoint comprised two conditions to be met during the first 72 h: ≥50% decrease in respiratory symptom severity score; and any of ≥30% decrease in sequential organ failure assessment score and favourable change in the kinetics of procalcitonin (PCT, defined as ≥80% PCT decrease or PCT <0.

Anakinra efficacy in COVID-19 pneumonia guided by soluble urokinase plasminogen activator receptor: Association with the inflammatory burden of the host.

Background: Anakinra was approved by the European Medicines Agency and received Emergency Use Authorization by the United States Food and Drug Administration for patients with COVID-19 pneumonia at risk for severe respiratory failure (SRF) with blood levels of soluble urokinase plasminogen activator receptor (suPAR) ≥ 6 ng/mL. We report the final results of the phase II open-label single-arm SAVE trial in a large population.

Methods: Patients with COVID-19 pneumonia and suPAR levels ≥ 6 ng/mL received subcutaneous anakinra 100 mg once daily for 10 days.

Targeting interleukin-6 pathways in giant cell arteritis management: A narrative review of evidence.

Giant cell arteritis (GCA) is a chronic inflammatory vasculitis with a significant impact on vascular and patient health. It may present with non-specific symptoms and can lead to severe complications if not managed effectively. This narrative review explores the treatment of GCA with interleukin-6 (IL-6) pathway inhibitors, focusing on key studies from selected databases published between 2018 and 2024.

Mosaic KRAS Mutation in Schimmelpenning-Feuerstein-Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.

We report a patient with clinically confirmed Schimmelpenning-Feuerstein-Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.

International Society on Thrombosis and Haemostasis Clinical Practice Guideline for Treatment of Congenital Haemophilia-A Critical Appraisal.

Introduction: Evidence-based clinical practice guidelines drive optimal patient care and facilitate access to high-quality treatment. Creating guidelines for rare diseases such as haemophilia, where evidence does not often come from randomized controlled trials but from non-randomized and well-designed observational studies and real-world data, is challenging. The methodology used for assessing available evidence should consider this critical fact.

Childhood interstitial lung disease survivors in adulthood: a European collaborative study.

Background: Interstitial lung disease (ILD) is rarer in children (chILD) than adults, but with increasing diagnostic awareness, more cases are being discovered. chILD prognosis is often poor, but increasing numbers are now surviving into adulthood.

Aim: To characterize chILD-survivors and identify their impact on adult-ILD centers.

Health and socio-demographic background of Ukrainian minors and their families in Germany - challenges for refugee medicine : A cross-sectional study from the German Network University Medicine (NUM).

Unlabelled: In 2022, over 1,000,000 people from Ukraine fled to Germany, mostly women and children. The aim of this study was to determine health status and socio-demographic background of Ukrainian refugee minors in Germany and to compare that to German minors. In this study, Ukrainian refugees of all ages, who voluntarily made contact with the study centres via flyers or refugee shelters, were interviewed with the help of trained interpreters from 09-12/2022.

Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.

Heparan sulfate (HS) and chondroitin sulfate (CS) proteoglycans (PG) consist of a core protein to which the glycosaminoglycan (GAG) chains, HS or CS, are attached through a common linker tetrasaccharide. In the extracellular space, they are involved in the regulation of cell communication, assuring development and homeostasis. The HSPG biosynthetic pathway has documented 51 genes, with many diseases associated to defects in some of them.

Arrhythmogenic Cardiomyopathy: Towards Genotype Based Diagnoses and Management.

Arrhythmogenic cardiomyopathy (ACM) is a genetically heterogeneous inherited cardiomyopathy with an estimated prevalence of 1:5000-10 000 that predisposes patients to life-threatening ventricular arrhythmias (VA) and sudden cardiac death (SCD). ACM diagnostic criteria and risk prediction models, particularly for arrhythmogenic right ventricular cardiomyopathy (ARVC), the most common form of ACM, are typically genotype-agnostic, but numerous studies have established clinically meaningful genotype-phenotype associations. Early signs of ACM onset differ by genotype indicating the need for genotype-specific diagnostic criteria and family screening paradigms.