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1.
Adv Exp Med Biol ; 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39259423

RESUMEN

Age-related macular degeneration (AMD) is one of the leading causes of visual loss in older patients. No effective drug is available for this pathology, but studies about therapy with stem cells replacing the damaged retinal cells with retinal pigment epithelium (RPE) were described. The documentation of AMD progression and the response to stem cell therapy have been performed by optical coherence tomography, microperimetry, and other diagnostic technologies.This chapter reports a clinical review of the most important clinical trials and protocols regarding the use of stem cells in AMD.

2.
Diagnostics (Basel) ; 14(17)2024 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-39272745

RESUMEN

(1) Background: Ocular emergencies account for 1.5-3% of emergency department (ED) visits and require urgent diagnosis to prevent serious complications. Ultrasonography is a crucial, non-invasive diagnostic tool for these conditions but traditionally lacks portability and integration with modern electronic smart devices. The purpose of this study was to assess the accuracy and performance of a new handheld ultrasound device in comparison to a conventional cart-based sonographic machine in patients attending to the ED for vitreo-retinal diseases. (2) Methods: three specialists in ophthalmology, with at least 4-year experience in vitreo-retinal diseases and eye ultrasound, evaluated images of 50 eyes with both portable and traditional ultrasound probes. Each specialist made the diagnosis based on the images captured with both probes and then rated their overall image quality and confidence of diagnosis with a five-point Likert scale. The concordance of diagnosis between the two probes was evaluated. (3) Results: The sample comprised 42 patients. Twenty (40%) healthy eyes and thirty eyes with the following vitreo-retinal interface conditions were examined: 12 retinal detachment (24%), 8 vitreous hemorrhage (16%), and 10 posterior vitreous detachment (20%). The overall accuracy of the two devices appeared to be comparable (70.7% vs. 69.3%). The Butterfly iQ+ probe showed similar sensitivity in retinal detachment diagnosis (91.7% vs. 94.4% of the Accutome B-scan Pro), while it showed poor performance in diagnosing posterior vitreous detachment (sensitivity = 27.2%); (4) Conclusions: The Butterfly iQ+ device demonstrated high sensitivity in the diagnosis of retinal detachment. Significant adjustments are still needed to improve the resolution of the vitreous body.

3.
Ophthalmol Ther ; 2024 Sep 28.
Artículo en Inglés | MEDLINE | ID: mdl-39340633

RESUMEN

INTRODUCTION: Despite an improved understanding of its pathogenesis, dry eye disease (DED) remains relatively underestimated and its treatment challenging. A better alignment between the clinical evaluation and the patient self-assessment also requires capturing the whole patient experience of DED. This project aimed to unveil this experience through narrative medicine (NM). METHODS: The project involved 38 expert centres in Italy and one in San Marino, targeting adult patients with DED, their informal caregivers and their treating ophthalmologists. Written narratives and sociodemographic and quality of life (QoL)-related data were anonymously collected through the project's webpage. Narratives were analysed through MAXQDA (VERBI Software, Berlin, Germany), NM classifications and content analysis. RESULTS: A total of 171 patients with DED, 37 informal caregivers and 81 ophthalmologists participated in the research. DED was defined as a disabling condition by 19% of patients and 35% of caregivers; 70% of patients reported that a therapeutic alliance is an integral part of DED treatment and 32% hope for more effective therapies. Forty-four per cent of patients assessed their own QoL as good; however, DED emerged as importantly impacting work performance and social events. DED physical, emotional and economic burden and the cruciality of a trusting care relationship represent the main themes that emerged across all narratives, while empathy and effective treatment are among the factors favouring coping with DED. CONCLUSION: This project marked a pioneering initiative investigating the lived experience of patients with DED through NM, simultaneously involving all viewpoints involved in the care pathway. NM enabled the unveiling of factors favouring the ability to cope with DED and its associated QoL implications and provided valuable insights to improve the therapeutic alliance.

4.
Bioengineering (Basel) ; 11(9)2024 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-39329601

RESUMEN

Corneal diseases, which can result in substantial visual impairment and loss of vision, are an important worldwide health issue. The aim of this review was to investigate the novel application of bioscaffolds in stem cell and regenerative treatments for the treatment of corneal disorders. The current literature reports that organic and artificial substances create bioscaffolds that imitate the inherent structure of the cornea, facilitating the attachment, growth, and specialization of stem cells. Sophisticated methods such as electrospinning, 3D bioprinting, and surface modification have been reported to enhance the characteristics of the scaffold. These bioscaffolds have been shown to greatly improve the survival of stem cells and facilitate the regrowth of corneal tissue in both laboratory and live animal experiments. In addition, the incorporation of growth factors and bioactive compounds within the scaffolds can promote a favorable milieu for corneal regeneration. To summarize, the advancement of these groundbreaking bioscaffolds presents a hopeful treatment strategy for the regeneration of the cornea, which has the potential to enhance the results for individuals suffering from corneal disorders. This study highlights the possibility of utilizing the fields of biomaterials science and stem cell treatment to tackle medical demands that have not yet been satisfied in the field of ophthalmology.

6.
J Pers Med ; 14(8)2024 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-39201972

RESUMEN

The COVID-19 pandemic, caused by SARS-CoV-2, has significantly impacted various organ systems, including the eyes. Initially considered a primarily respiratory disease, it is now evident that COVID-19 can induce a range of ocular symptoms. Recognizing these ocular manifestations is crucial for eye care practitioners as they can serve as early indicators of the disease. This review consolidates current evidence on the ocular effects of COVID-19, identifying manifestations such as conjunctivitis, scleritis, uveitis, and retinopathy. The increasing prevalence of these symptoms highlights the importance of thorough eye examinations and detailed patient histories in COVID-19 cases. Potential routes of viral entry into ocular tissues and the underlying mechanisms, including direct infection, immune responses, and vascular involvement, are explored. Additionally, this review addresses ocular side effects associated with COVID-19 vaccines, such as corneal graft rejection, uveitis, and retinal issues. These findings emphasize the need for ongoing surveillance and research to ensure vaccine safety.

7.
Int J Mol Sci ; 25(16)2024 Aug 09.
Artículo en Inglés | MEDLINE | ID: mdl-39201407

RESUMEN

Proliferative vitreoretinopathy (PVR) has traditionally been managed with vitreoretinal surgery. Although there have been several recent innovations in this surgery to make the retinal approach as uninvasive as possible, the outcomes remain unsatisfactory. Significant complications remain and the complexity of the surgical approach is challenging. The focus of this review was to investigate and discuss the effectiveness of nanomedicine, featuring a wide range of drugs and molecules, as a novel potential treatment for PVR. To date, ocular drug delivery remains a significant issue due to the physiological and anatomical barriers, dynamic or static, which prevent the entry of exogenous molecules. We tried to summarize the nanotechnology-based ophthalmic drugs and new nanoparticles currently under research, with the intention of tackling the onset and development of PVR. The purpose of this review was to thoroughly and analytically examine and assess the potential of nano-based techniques as innovative strategies to treat proliferative vitreoretinopathy (PVR). This study aimed to emphasize the breakthroughs in nanomedicine that provide promising therapeutic options to enhance the results of vitreoretinal surgery and halt disease progression, considering the complexity and difficulty of PVR treatment. The future directions of the nanoparticles and nanotherapies applied to PVR highlight the importance of investing in the development of better designs and novel ophthalmic formulations in order to accomplish a mini-invasive ocular approach, replacing the standard-of-care vitreoretinal surgery.


Asunto(s)
Sistemas de Liberación de Medicamentos , Nanopartículas , Cirugía Vitreorretiniana , Vitreorretinopatía Proliferativa , Vitreorretinopatía Proliferativa/tratamiento farmacológico , Vitreorretinopatía Proliferativa/cirugía , Humanos , Cirugía Vitreorretiniana/métodos , Nanopartículas/química , Sistemas de Liberación de Medicamentos/métodos , Animales , Nanomedicina/métodos
8.
Front Biosci (Landmark Ed) ; 29(8): 310, 2024 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-39206909

RESUMEN

This review explores the connection between the ocular surface microbiome and glaucoma, highlighting its impact on disease progression. Beginning with an overview of global glaucoma significance, it emphasizes the importance of understanding the cellular characteristics and microbiology of the ocular microbiome. A search was conducted on the PubMed and Cochrane Library databases using the phrase "ocular microbiome glaucoma". 0 records were returned from the Cochrane Library while 21 were returned from PubMed. A total of 21 results were retrieved from 2017 to 2024. This comprised one opinion paper, four original research articles, and 16 reviews. This review covered the anatomy of the ocular surface, advanced analysis methods, and the ocular microbiome. It also delved into dysbiosis in glaucoma, addressing altered microbial communities and their potential role in disease progression. The intricate interplay between the ocular microbiome and the host's immune system is explored, emphasizing crosstalk and inflammatory responses. The review concludes by discussing therapeutic implications, including modulating ocular microbiota and potential future treatment strategies. Understanding the microbiome in healthy and glaucomatous eyes can help researchers and clinicians in innovative approaches to ocular health.


Asunto(s)
Disbiosis , Glaucoma , Microbiota , Humanos , Glaucoma/microbiología , Disbiosis/microbiología , Ojo/microbiología , Bacterias/clasificación , Bacterias/genética , Progresión de la Enfermedad
9.
Biomedicines ; 12(8)2024 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-39200120

RESUMEN

BACKGROUND: Glaucoma is a major cause of incurable ocular morbidity and poses significant challenges in its management due to the limited treatment options and potential adverse effects. Nicotinamide, a naturally occurring diet-rich nutrient, has emerged as a promising therapeutic agent for glaucoma, offering neuroprotective effects and the potential modulation of intraocular pressure (IOP) regulation pathways. This comprehensive review sought to analyze the current literature on nicotinamide in glaucoma management, exploring its mechanisms of action, efficacy, and safety profile. METHODS: A systematic search of the PubMed database was conducted to identify relevant records on the therapeutic actions of nicotinamide in ocular hypertension and glaucoma. Publications evaluating nicotinamide's effects on retinal ganglion cells (RGCs), optic nerve function, IOP regulation, and neuroinflammatory pathways were included. RESULTS: The literature review revealed the preclinical evidence supporting nicotinamide's neuroprotective effects on RGCs, the preservation of optic nerve integrity, and the modulation of glaucoma-associated neuroinflammation. Additionally, nicotinamide may exert IOP-lowering effects through its influence on ocular blood flow and aqueous humor dynamics. CONCLUSIONS: Nicotinamide holds promise as a novel therapeutic approach in glaucoma management, offering potential neuroprotective and IOP-lowering effects. The authors recommend more research to determine the nicotinamide efficacy, safe dosing parameters, and any long-term safety concerns in glaucoma patients.

10.
J Clin Med ; 13(16)2024 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-39200928

RESUMEN

Background/Objectives: Lentigo maligna (LM) and lentigo maligna melanoma (LMM) are significant subtypes of melanoma, with an annual incidence of 1.37 per 100,000 people in the U.S. These skin tumors, often found in photo-exposed areas such as the face, are frequently misdiagnosed, leading to delayed treatment or unnecessary excisions, especially in the elderly. Facial melanocytic skin tumors (lentigo maligna-LM/lentigo maligna melanoma-LMM) and their simulators (solar lentigo, pigmented actinic keratosis, seborrheic keratosis and lichen planus-like keratosis) often affect the periocular region. Thus, their diagnosis and management can involve different medical figures, mainly dermatologists and ophthalmologists. This study aimed to evaluate the ability of ophthalmologists to diagnose and manage pigmented skin lesions of the periorbital area. Methods: A multicentric, retrospective, cross-sectional study on a dataset of 79 periorbital pigmented skin lesions with both clinical and dermoscopic images was selected. The images were reviewed by six ophthalmologists and two dermatologists. Descriptive statistics were carried out, and the accuracy, sensitivity, and specificity, with their 95% confidence interval (95% CI), were estimated. Results: Ophthalmologists achieved a diagnostic accuracy of 63.50% (95% CI: 58.99-67.85%), while dermatologists achieved 66.50% (95% CI: 58.5-73.8). The sensitivity was lower for ophthalmologists in respect to dermatologists, 33.3% vs. 46.9%, respectively. Concerning the case difficulty rating, ophthalmologists rated as "difficult" 84% of cases, while for dermatologists, it was about 30%. Management was also consistently different, with a "biopsy" decision being suggested in 25.5% of malignant lesions by ophthalmologists compared with 50% of dermatologists. Conclusions: Ophthalmologists revealed a good diagnostic potential in the identification of periorbital LMs/LMMs. Given progressive population ageing and the parallel increase in facial/periorbital skin tumors, the opportunity to train new generations of ophthalmologists in the early diagnosis of these neoformations should be considered in the next future, also taking into account the surgical difficulty/complexity of this peculiar facial area.

11.
Cytojournal ; 21: 23, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39108466

RESUMEN

Orbital inflammatory disease (OID) comprises approximately 6% of orbital conditions, affecting individuals across all ages. The range of the primary orbital inflammation's differential diagnosis is extensive, encompassing autoimmune disorders such as thyroid diseases, vasculitis, sarcoidosis, connective tissue diseases, immunoglobulin G4-related disease (IgG4-RD), and giant cell myositis, whereas secondary causes span from infections to drug-induced causes. Analyzing histopathological aspects and cell populations could enhance our comprehension of the etiology of orbital inflammatory involvement in systemic diseases such as IgG4-RD. We present a series of four patients from our Rheumatology clinic, each with distinct systemic diseases, illustrating diverse manifestations of OID. This series was conducted to facilitate discussions and diagnoses of challenging cases of OID in a rheumatologic setting. The difficulty in the differential diagnosis arises from the extensive range of structures involved, resulting in a significant variation of clinical manifestations. Furthermore, the lack of definitive diagnostic laboratory tests and, often, histological findings add to the complexity. OID poses diagnostic challenges with variable clinical manifestations and overlapping imaging findings. As a diagnosis of exclusion, a comprehensive evaluation is crucial, often necessitating an orbital biopsy for confirmation. Collaborative efforts among specialists are essential for managing these intricate cases.

12.
Ophthalmol Ther ; 13(10): 2559-2573, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39060700

RESUMEN

INTRODUCTION: Patients with dry eye disease (DED) complain of a multitude of symptoms that affect their visual function and quality of life (QoL). This clinical investigation assessed the performance, tolerance, and safety of a novel preservative-free ophthalmic solution containing xanthan gum 0.2% and desonide sodium phosphate 0.025%. METHODS: This was an observational, prospective, multicentric, and post-market clinical investigation to assess the effect of three times a day instillation of the study formulation in patients suffering from DED. The primary objective was to achieve a 50% reduction in conjunctival hyperemia index as assessed with the OCULUS Keratograph after 1 month of treatment compared to baseline values. The secondary objectives included patient-reported outcomes, clinical performance, and safety. RESULTS: Thirty patients were enrolled (21 women, 9 men) with a mean age of 61.10 ± 14.53 years. The instillation of the study formulation was associated with a significant reduction in redness scores after 1 month of treatment compared to baseline (mean - 0.51 ± 0.51; p ≤ 0.0001). Although the primary endpoint was not completely met, a 50% reduction in the conjunctival hyperemia index was achieved in 23% of the participants, and 77% showed a reduction of 26% of the same index. In addition, the ophthalmic solution significantly increased tear film break-up time, and a significant reduction of corneal and conjunctival staining with fluorescein was achieved. It also reduced DED symptoms and had a very good safety profile. CONCLUSIONS: the study formulation produced a significant improvement in the signs, symptoms, and QoL of patients with mild to moderate DED with a good safety profile after 1 month of treatment.

13.
World J Transplant ; 14(2): 95009, 2024 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-38947970

RESUMEN

Whole-eye transplantation emerges as a frontier in ophthalmology, promising a transformative approach to irreversible blindness. Despite advancements, formidable challenges persist. Preservation of donor eye viability post-enucleation necessitates meticulous surgical techniques to optimize retinal integrity and ganglion cell survival. Overcoming the inhibitory milieu of the central nervous system for successful optic nerve regeneration remains elusive, prompting the exploration of neurotrophic support and immunomodulatory interventions. Immunological tolerance, paramount for graft acceptance, confronts the distinctive immunogenicity of ocular tissues, driving research into targeted immunosuppression strategies. Ethical and legal considerations underscore the necessity for stringent standards and ethical frameworks. Interdisciplinary collaboration and ongoing research endeavors are imperative to navigate these complexities. Biomaterials, stem cell therapies, and precision immunomodulation represent promising avenues in this pursuit. Ultimately, the aim of this review is to critically assess the current landscape of whole-eye transplantation, elucidating the challenges and advancements while delineating future directions for research and clinical practice. Through concerted efforts, whole-eye transplantation stands to revolutionize ophthalmic care, offering hope for restored vision and enhanced quality of life for those afflicted with blindness.

14.
J Pers Med ; 14(7)2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-39063944

RESUMEN

BACKGROUND: An increasing amount of people are globally affected by retinal diseases, such as diabetes, vascular occlusions, maculopathy, alterations of systemic circulation, and metabolic syndrome. AIM: This review will discuss novel technologies in and potential approaches to the detection and diagnosis of retinal diseases with the support of cutting-edge machines and artificial intelligence (AI). METHODS: The demand for retinal diagnostic imaging exams has increased, but the number of eye physicians or technicians is too little to meet the request. Thus, algorithms based on AI have been used, representing valid support for early detection and helping doctors to give diagnoses and make differential diagnosis. AI helps patients living far from hub centers to have tests and quick initial diagnosis, allowing them not to waste time in movements and waiting time for medical reply. RESULTS: Highly automated systems for screening, early diagnosis, grading and tailored therapy will facilitate the care of people, even in remote lands or countries. CONCLUSION: A potential massive and extensive use of AI might optimize the automated detection of tiny retinal alterations, allowing eye doctors to perform their best clinical assistance and to set the best options for the treatment of retinal diseases.

15.
J Pers Med ; 14(7)2024 Jul 22.
Artículo en Inglés | MEDLINE | ID: mdl-39064030

RESUMEN

Thyroid Eye Disease (TED) is a debilitating autoimmune condition often associated with thyroid dysfunction, leading to significant ocular and orbital morbidity. This review explores recent advancements in the management of TED, focusing on both medical and surgical innovations. The introduction of Teprotumumab, the first FDA-approved drug specifically for TED, marks a pivotal development in medical therapy. Teprotumumab targets the insulin-like growth factor-1 receptor (IGF-1R), effectively reducing inflammation and tissue remodeling. Clinical trials demonstrate its efficacy in reducing proptosis and improving quality of life, making it a cornerstone in the treatment of active, moderate-to-severe TED. Surgical management remains critical for patients with chronic TED or those unresponsive to medical therapy. Advancements in orbital decompression surgery, including image-guided and minimally invasive techniques, offer improved outcomes and reduced complications. Innovations in eyelid and strabismus surgery enhance functional and cosmetic results, further improving patient satisfaction. The management of TED necessitates a multidisciplinary approach involving endocrinologists, ophthalmologists, oculoplastic surgeons, radiologists, and other specialists. This collaborative strategy ensures comprehensive care, addressing the diverse aspects of TED from thyroid dysfunction to ocular health and psychological well-being. Future directions in TED treatment include emerging pharmacological therapies targeting different aspects of the disease's pathophysiology and advanced surgical techniques aimed at enhancing precision and safety. This review underscores the importance of a personalized, multidisciplinary approach in managing TED, highlighting current advancements, and exploring potential future innovations to improve patient outcomes and quality of life.

16.
Medicina (Kaunas) ; 60(6)2024 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-38929522

RESUMEN

Primary open angle glaucoma (POAG) is defined as a "genetically complex trait", where modifying factors act on a genetic predisposing background. For the majority of glaucomatous conditions, DNA variants are not sufficient to explain pathogenesis. Some genes are clearly underlying the more "Mendelian" forms, while a growing number of related polymorphisms in other genes have been identified in recent years. Environmental, dietary, or biological factors are known to influence the development of the condition, but interactions between these factors and the genetic background are poorly understood. Several studies conducted in recent years have led to evidence that epigenetics, that is, changes in the pattern of gene expression without any changes in the DNA sequence, appear to be the missing link. Different epigenetic mechanisms have been proven to lead to glaucomatous changes in the eye, principally DNA methylation, post-translational histone modification, and RNA-associated gene regulation by non-coding RNAs. The aim of this work is to define the principal epigenetic actors in glaucoma pathogenesis. The identification of such mechanisms could potentially lead to new perspectives on therapeutic strategies.


Asunto(s)
Metilación de ADN , Epigénesis Genética , Glaucoma de Ángulo Abierto , Humanos , Glaucoma de Ángulo Abierto/genética , Glaucoma/genética , Predisposición Genética a la Enfermedad
17.
World J Clin Cases ; 12(17): 2951-2965, 2024 Jun 16.
Artículo en Inglés | MEDLINE | ID: mdl-38898854

RESUMEN

The aging of the periocular region has always aroused great interest. A fresh, young, and attractive sight determined an ever-greater attention to surgical and non-surgical techniques to obtain this result. In particular, the change in the concept of a young look, considered then "full", led to the increasing use of surgical (fat grafting) or medical (hyaluronic acid) filling techniques. Eyelid rejuvenation became increasingly popular in the field of cosmetic treatments, with a focus on achieving a youthful and refreshed appearance. Among the various techniques available, the choice between using fat grafting or fillers presented a clinical dilemma. In particular, what surgery considered of fundamental importance was a long-lasting result over time. On the other hand, aesthetic medicine considered it fundamental not to have to resort to invasive treatments. But what was the reality? Was there one path better than the other, and above all, was there a better path for patients? The minireview aims to explore the physiopathology, diagnosis, treatment options, prognosis, and future studies regarding this dilemma. We analyzed the literature produced in the last 20 years comparing the two techniques. Current literature reveals advancements in biomaterials, stem cell research and tissue engineering held promise for further enhancing the field of eyelid rejuvenation. The choice between fat grafting and fillers in eyelid cosmetic treatments presented a clinical dilemma. Understanding physiopathology, accurately diagnosing eyelid aging, exploring treatment options, assessing prognosis, and conducting future studies were essential for providing optimal care to patients seeking eyelid rejuvenation.

18.
World J Clin Cases ; 12(16): 2796-2802, 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38899282

RESUMEN

BACKGROUND: As one of the most common aesthetic surgical procedures carried out today, blepharoplasty should be in the repertoire of every plastic surgeon. The term blepharoplasty encompasses a wide range of techniques and options that must be tailored to the specific defect and patient one has to treat. A sound knowledge of the upper and lower eyelids' anatomy is essential for proper surgical execution. Trends have shifted towards more conservative methods (especially of the fat compartment) and sometimes in combination with augmentation techniques, helping to reach a rejuvenated appearance. AIM: To present an overview of the surgical techniques considered for upper lid blepharoplasty and fat pad management, in addition to information on how a surgeon may approach the best treatment for his patient based on current publications in literature. METHODS: We searched the literature published between 2013, to 2023 using Medline and Reference Citation Analysis. The database was searched using the keywords "upper blepharoplasty" AND "fat". Papers without full text/abstracts and reviews were excluded. The search strategy followed the PRISMA. The American Society of Plastic Surgeons guidelines for Therapeutic Studies checklist was used to assess all articles. Two authors individually reviewed each article and rated them for importance and relevance to the topic. A consensus was sought and the most relevant studies. RESULTS: After the application of the selection criteria used in our review, 13 publications were found to address upper lid blepharoplasty specifically. Three of these studies were reviews and three were retrospective studies. Five publications were comparative studies and a further two were clinical trials. CONCLUSION: The tendency of modern surgery is to be conservative, by removing adipose tissue only if strictly necessary and restoring the volume of the upper eyelid in a concept of beauty that espouses a "full" sight. There is no gold standard technique to achieve younger and enhanced eyelids. Long-term prospective comparative studies are fundamental in understanding which path is the best to follow.

19.
Int J Mol Sci ; 25(10)2024 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-38791494

RESUMEN

To investigate potential biomarkers and biological processes associated with diabetic retinopathy (DR) using transcriptomic and proteomic data. The OmicsPred PheWAS application was interrogated to identify genes and proteins associated with DR and diabetes mellitus (DM) at a false discovery rate (FDR)-adjusted p-value of <0.05 and also <0.005. Gene Ontology PANTHER analysis and STRING database analysis were conducted to explore the biological processes and protein interactions related to the identified biomarkers. The interrogation identified 49 genes and 22 proteins associated with DR and/or DM; these were divided into those uniquely associated with diabetic retinopathy, uniquely associated with diabetes mellitus, and the ones seen in both conditions. The Gene Ontology PANTHER and STRING database analyses highlighted associations of several genes and proteins associated with diabetic retinopathy with adaptive immune response, valyl-TRNA aminoacylation, complement activation, and immune system processes. Our analyses highlight potential transcriptomic and proteomic biomarkers for DR and emphasize the association of known aspects of immune response, the complement system, advanced glycosylation end-product formation, and specific receptor and mitochondrial function with DR pathophysiology. These findings may suggest pathways for future research into novel diagnostic and therapeutic strategies for DR.


Asunto(s)
Biomarcadores , Retinopatía Diabética , Inflamación , Retinopatía Diabética/genética , Retinopatía Diabética/metabolismo , Humanos , Inflamación/genética , Inflamación/metabolismo , Proteómica/métodos , Transcriptoma , Ontología de Genes , Mapas de Interacción de Proteínas/genética , Perfilación de la Expresión Génica
20.
J Clin Med ; 13(10)2024 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-38792282

RESUMEN

Background: Systemic sclerosis is a complex autoimmune disease characterized by vasculopathy, fibrosis, and immune dysregulation. Ocular manifestations in these patients are increasingly recognized, suggesting potential correlations between systemic vascular abnormalities and ocular microvascular changes. Advancements in molecular immunology and imaging technology using ocular coherence tomography (OCT) have unveiled intricate pathways underlying possible disease pathogenesis. Understanding the interplay between retinal vascular abnormalities and molecular immunology parameters could provide insights into disease mechanisms and potential biomarkers. Purpose: The aim of this study was to investigate vascular abnormalities, detected with optical coherence tomography angiography (OCT-A), in systemic sclerosis patients and to find correlations between the severity of the disease detected with molecular immunology findings and OCT-A parameters. Methods: A group of 32 systemic sclerosis patients were compared with 9 healthy controls. Ganglion cell complex thickness (GCC), retina thickness of the fovea and parafovea, nerve fiber layer thickness (RNFL) and cup/disc area ratio were investigated using OCT. Vessel density (VD) of the superficial (SCP) and deep capillary plexus (DCP) of the whole macular area and ETDRS grid, size of the foveal avascular zone (FAZ) and vessel density of the radial peripapillary capillary plexus (RPCP) were evaluated using OCT-A. Modified Rodnan skin score (mRSS), capillaroscopy and disease duration were used to stage disease severity. Results: There was a statistically significant reduction in retina thickness of the fovea and parafovea, VD of the whole DCP, VD of the SCP and DCP in ETDRS grid in the patient group compared to controls (p < 0.001). The patients presented a significant enlargement of the FAZ (p 0.005). No significant correlation between OCT and OCT-A parameters and disease severity scores was found. Conclusions: OCT-A could represent a non-invasive tool to detect retinal microvascular damage in systemic sclerosis.

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