Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD), a disorder of the motile cilia, is now recognised as an underdiagnosed cause of bronchiectasis. Accurate PCD diagnosis comprises clinical assessment, analysis of cilia and the identification of biallelic variants in one of 50 known PCD-related genes, including HYDIN. HYDIN-related PCD is underdiagnosed due to the presence of a pseudogene, HYDIN2, with 98% sequence homology to HYDIN.

Emerging therapies and respiratory infections: Focus on the impact of immunosuppressants and immunotherapies.

Host defences to infection are based upon an integrated system of physical and biochemical barriers, innate and adaptive immunity. Weakness in any of these defensive elements leads to increased susceptibility to specific pathogens. Understanding how medical therapies disrupt host defences is key to the successful prevention, diagnosis and management of respiratory infection in the immunocompromised host.

Advances in Aquaculture Hatchery Techniques of Sea Urchin (Lamarck, 1816) (Echinoidea: Toxopneustidae): Broodstock Conditioning and Spawning Induction.

In response to the growing demand for sea urchin gonads (roe or uni) in Asian and European markets and the concerns regarding the overexploitation of wild populations, this preliminary study addresses the need for cost-effective protocols in echinoculture. The primary focus of this research was to evaluate the gonadosomatic index (GI) in captive-conditioned over a five-month period and compare it with that of their wild-caught conspecifics. Additionally, two different spawning induction methods were assessed: potassium chloride (KCl) injection and agitation.

Investigating the role of platelets and platelet-derived transforming growth factor-β in idiopathic pulmonary fibrosis.

Transforming growth factor-β1 (TGFβ1) is the key profibrotic cytokine in idiopathic pulmonary fibrosis (IPF), but the primary source of this cytokine in this disease is unknown. Platelets have abundant stores of TGFβ1, although the role of these cells in IPF is ill-defined. In this study, we investigated whether platelets, and specifically platelet-derived TGFβ1, mediate IPF disease progression.

Pacemaker Reuse in Portuguese Speaking Countries: A Clinical Reflection.

There is a gap between high-income countries and others in terms of access to medical cardiac devices, such as pacemakers and implantable cardioverter defibrillators. Costs are one of the main barriers to the use of cardiac devices in these countries. There are international initiatives that aim to reduce the gap.

Insights into Personalised Medicine in Bronchiectasis.

Bronchiectasis is a heterogenous disease with multiple aetiologies resulting in inflammation and dilatation of the airways with associated mucus production and chronic respiratory infection. The condition is being recognised ever more frequently as the availability of computed tomography increases. It is associated with significant morbidity and healthcare-related costs.