RESUMEN

Salivary gland tumors are a rare and heterogeneous group of neoplasms of the head and neck region. The mixed category of these tumors include the following entities: pleomorphic adenoma (PA), carcinoma ex pleomorphic adenoma (CEPA), salivary carcinosarcoma (CS), and metastasizing PA (MPA). The most common benign tumor of the salivary glands is PA. Metastasis and malignant degeneration have been reported in cases of PA of a salivary gland origin. Judging by their behavior, MPA, CEPA, and CS can be considered aggressive tumors. Invasive CEPA has been identified in the parotid gland more frequently. MPA and CS cases reported in the current literature are rare. In this paper, we present, narratively, the clinico-morphological features of this group of mixed tumors.

RESUMEN

Stargardt disease, one of the most common forms of inherited retinal diseases, affects individuals worldwide. The primary cause is mutations in the ABCA4 gene, leading to the accumulation of toxic byproducts in the retinal pigment epithelium (RPE) and subsequent photoreceptor cell degeneration. Over the past few years, research on Stargardt disease has advanced significantly, focusing on clinical and molecular genetics. Recent studies have explored various innovative therapeutic approaches, including gene therapy, stem cell therapy, and pharmacological interventions. Gene therapy has shown promise, particularly with adeno-associated viral (AAV) vectors capable of delivering the ABCA4 gene to retinal cells. However, challenges remain due to the gene's large size. Stem cell therapy aims to replace degenerated RPE and photoreceptor cells, with several clinical trials demonstrating safety and preliminary efficacy. Pharmacological approaches focus on reducing toxic byproduct accumulation and modulating the visual cycle. Precision medicine, targeting specific genetic mutations and pathways, is becoming increasingly important. Novel techniques such as clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 offer potential for directly correcting genetic defects. This review aims to synthesize recent advancements in understanding and treating Stargardt disease. By highlighting breakthroughs in genetic therapies, stem cell treatments, and novel pharmacological strategies, it provides a comprehensive overview of emerging therapeutic options.

Asunto(s)

Transportadoras de Casetes de Unión a ATP , Terapia Genética , Enfermedad de Stargardt , Enfermedad de Stargardt/genética , Humanos , Terapia Genética/métodos , Transportadoras de Casetes de Unión a ATP/genética , Mutación , Trasplante de Células Madre/métodos , Animales , Degeneración Macular/terapia , Degeneración Macular/genética , Degeneración Macular/congénito , Epitelio Pigmentado de la Retina/metabolismo , Sistemas CRISPR-Cas

RESUMEN

Toxoplasmosis, caused by the protozoan parasite Toxoplasma gondii (T. gondii), presents a significant global health concern, particularly for immunocompromised individuals and congenitally infected newborns. Despite its widespread prevalence, there are limited data on T. gondii seroprevalence and ocular toxoplasmosis in Romania. This review aims to summarize the research accomplished on the prevalence and epidemiology of human ocular toxoplasmosis in Romania. Ocular toxoplasmosis, a leading cause of infectious posterior uveitis worldwide, involves complex interactions between host immune responses and parasite factors. Clinically, it presents as focal necrotizing retinitis, characterized by active focal retinal lesions with adjacent chorioretinal scarring, often accompanied by vitreous inflammation and anterior chamber reactions. Diagnosis relies on clinical examination supported by fundus photography, optical coherence tomography (OCT), and serological assays. The authors followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards, conducting a literature review on PubMed, Google Scholar, and Scopus. Our focus was on ocular toxoplasmosis in Romania, and we used keywords and specific MeSH terms. Finally, 17 articles met all the criteria, as summarized in the PRISMA diagram. This study underscores the need for improved diagnostic methods, increased research efforts, and comprehensive public health education to mitigate the burden of toxoplasmosis and ocular toxoplasmosis in Romania.

RESUMEN

Diabetes mellitus (DM) is a chronic metabolic disorder marked by hyperglycemia due to defects in insulin secretion, action, or both, with a global prevalence that has tripled in recent decades. This condition poses significant public health challenges, affecting individuals, healthcare systems, and economies worldwide. Among its numerous complications, ocular surface disease (OSD) is a significant concern, yet understanding its pathophysiology, diagnosis, and management remains challenging. This review aims to explore the epidemiology, pathophysiology, clinical manifestations, diagnostic approaches, and management strategies of diabetes-related OSD. The ocular surface, including the cornea, conjunctiva, and associated structures, is vital for maintaining eye health, with the lacrimal functional unit (LFU) playing a crucial role in tear film regulation. In DM, changes in glycosaminoglycan metabolism, collagen synthesis, oxygen consumption, and LFU dysfunction contribute to ocular complications. Persistent hyperglycemia leads to the expression of cytokines, chemokines, and cell adhesion molecules, resulting in neuropathy, tear film abnormalities, and epithelial lesions. Recent advances in molecular research and therapeutic modalities, such as gene and stem cell therapies, show promise for managing diabetic ocular complications. Future research should focus on pathogenetically oriented therapies for diabetic neuropathy and keratopathy, transitioning from animal models to clinical trials to improve patient outcomes.