Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in Gene: A Founder Effect?

MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of childhood mortality due to limited access to healthcare services. We describe three unrelated patients from the Campania region in Italy with MyD88 deficiency, all belonging to Roma descent and displaying severe or recurrent infections in early infancy.

The Type III Intermediate Filament Protein Peripherin Regulates Lysosomal Degradation Activity and Autophagy.

Peripherin belongs to heterogeneous class III of intermediate filaments, and it is the only intermediate filament protein selectively expressed in the neurons of the peripheral nervous system. It has been previously discovered that peripherin interacts with proteins important for the endo-lysosomal system and for the transport to late endosomes and lysosomes, such as RAB7A and AP-3, although little is known about its role in the endocytic pathway. Here, we show that peripherin silencing affects lysosomal abundance but also positioning, causing the redistribution of lysosomes from the perinuclear area to the cell periphery.

Olfactory Impairment and Recovery in Zebrafish () Following Cadmium Exposure.

Anthropic activities have significantly elevated cadmium levels, making it a significant stressor in aquatic ecosystems. Present in high concentrations across water bodies, cadmium is known to bioaccumulate and biomagnify throughout the food chain. While the toxic effects of cadmium on the organs and tissues of aquatic species are well-documented, little is known about its impact on sensory systems crucial for survival.

Are we ready for the application of the EU Regulation on wastewater reuse in agriculture? A techno-economic preliminary evaluation based on a case-study.

Reuse of reclaimed wastewater (RWW) in agriculture represents one of the key strategies to promote for reducing the pressures on water sources, as also fostered by the EU governance. Indeed, the European Regulation 741/2020 on water reuse, entered into force in 2023, was issued with the aim to extend the reuse of treated water in agriculture under safe conditions. It establishes the minimum quality requirements; it also foresees the possibility to add additional requirements, especially for contaminants of emerging concern (CECs), based on "scientific evidence" and the risk assessment.

Casual detection of an abdominal aortic aneurysm thanks to a trainee-made ultrasound with two subsequent "domino" diagnoses: case report and insights on the role of ultrasound courses.

Early detection of abdominal aortic aneurysm (AAA) is crucial as untreated lesions can be life-threatening. We describe the case of a fortuitous ultrasound (US) detection of AAA by a trainee which allowed two subsequent "domino" diagnoses. A 69 y.