The Identification of a Novel Pathogenic Variant of the Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.

Anderson-Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the gene, leads to the accumulation of glycosphingolipids, mainly globotriaosylceramide in the lysosomes of different cell types. The clinical presentation of Fabry disease is multisystemic and can vary depending on the specific genetic variants associated with the disease.

The Role of Platelet Concentrates and Growth Factors in Facial Rejuvenation: A Systematic Review with Case Series.

: Due to the regeneration potential of growth factors (GFs) and platelet concentrates (PCs), facial rejuvenation has been a major area of attention in esthetic medicine. The effectiveness and safety of PCs and GFs in promoting face rejuvenation are examined in this systematic review, which is complemented by a case series. GFs are essential for collagen production and dermal matrix remodeling, while PCs, like Platelet-Rich Plasma (PRP), are abundant in bioactive chemicals that promote tissue healing and cellular regeneration.

Perturbations in Microbial Communities at Hydrothermal Vents of Panarea Island (Aeolian Islands, Italy).

Marine hydrothermal ecosystems represent extreme environments connected to submarine volcanic areas characterized by vents, having high temperatures and particular chemical compositions. The hydrothermal marine system of Panarea, located in one of the seven small islands belonging to the Aeolian Archipelago (southern Tyrrhenian Sea), is characterized by a range of vents exhibiting diverse physical and chemical conditions. We aimed to analyze the microbial community of a peculiar hot spring belonging to the Panarea hydrothermal field, known as "Black Point" (BP), in two separate sampling expeditions (May and August).

Nitrogen Enriched Tröger's Base Polymers of Intrinsic Microporosity for Heterogeneous Catalysis.

Heterogeneous catalysis is significantly enhanced by the use of highly porous polymers with specific functionalities, such as basic groups, which accelerate reaction rates. Polymers of intrinsic microporosity (PIMs) provide a unique platform for catalytic reactions owing to their high surface areas and customizable pore structures. We herein report a series of Tröger's base polymers (TB-PIMs) with enhanced basicity, achieved through the incorporation of nitrogen-containing groups into their repeat units, such as triazine and triphenylamine.

Computed tomographic findings in dogs with ovarian tumors: A tortuous ovarian artery consistently identifies ovarian origin in complex abdominal masses.

The aim of this retrospective multicentric case series is to describe the CT findings of ovarian neoplasia in dogs. Twenty dogs with pre- and postcontrast CT exams and cytological/histological diagnosis of ovarian neoplasia were included. Five dogs presented with bilateral tumors, for a total of 25 neoplasms: 15 carcinomas (4 bilateral), 4 granulosa cell tumors, 2 poorly differentiated malignant neoplasia (bilateral), 2 luteomas, 1 teratoma, 1 dysgerminoma.