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1.
Nutrients ; 16(12)2024 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-38931233

RESUMEN

Vitamin D3 plays a vital role in numerous physiological processes within the human body, including having a positive effect on eye health. It is renowned for its immunomodulatory, anti-inflammatory, antioxidant, and angiogenic properties. Its deficiency is evolving into a significant global challenge. In order to explain the connection between vitamin D3 and various ocular diseases, 84 relevant studies, mainly from the PubMed database, published in English between 1999 and 2024 were analyzed. Ocular tissues can activate and regulate vitamin D levels, which emphasizes the significance of this nutrient in maintaining eye homeostasis. While there is suggestive evidence for a probable association between vitamin D3 and ocular health, more robust research is needed to establish causation and inform clinical guidelines.


Asunto(s)
Colecalciferol , Oftalmopatías , Deficiencia de Vitamina D , Humanos , Oftalmopatías/etiología , Deficiencia de Vitamina D/complicaciones , Ojo/efectos de los fármacos , Suplementos Dietéticos
2.
Turk J Ophthalmol ; 54(3): 127-132, 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38940325

RESUMEN

Objectives: To report ocular manifestations in patients with Fabry disease (FD) from a tertiary eye care center in Türkiye. Materials and Methods: This prospective, cross-sectional study included 30 eyes of 15 patients with FD. The diagnosis of FD was made based on a combination of clinical findings, genetic analysis, and biochemical evaluation. All participants underwent a detailed ophthalmic examination with special focus on the typical ocular features of FD (cornea verticillata, conjunctival aneurysms, cataract, retinal vessel tortuosity). Results: The mean age was 45±17 years (range: 22-75 years), with a female/male ratio of 2:3. All patients had tortuous conjunctival vessels and 12 patients (80%) had conjunctival aneurysms. Cornea verticillata was present in 10 patients (66.6%), lens opacification in 4 patients (26.6%), and retinal vascular tortuosity in 8 patients (53.3%). All patients had at least two different ocular findings; most (3 heterozygotes/7 hemizygotes) had a combination of corneal verticillata and conjunctival vessel abnormality. The conjunctiva, cornea, and retina were affected together in 5 hemizygous patients (33.3%). One hemizygous patient had all FDrelated ocular manifestations in both eyes. Conclusion: To our knowledge, this study is the first to describe the ocular manifestations of FD in the Turkish population. Although cornea verticillata is considered a hallmark of FD, it was absent in approximately one-third of patients. Moreover, cataract, another well-known feature of FD, was present in only 26.6% of the patients. Conjunctival vascular abnormality alone seems to be quite rare in FD, although it often accompanies other ocular manifestations. Therefore, recognition of other mild findings and special consideration of their associations may increase the diagnostic value of ocular findings in FD.


Asunto(s)
Enfermedad de Fabry , Centros de Atención Terciaria , Humanos , Enfermedad de Fabry/complicaciones , Enfermedad de Fabry/diagnóstico , Femenino , Masculino , Adulto , Persona de Mediana Edad , Estudios Transversales , Estudios Prospectivos , Anciano , Adulto Joven , Turquía/epidemiología , Conjuntiva/patología , Conjuntiva/irrigación sanguínea , Oftalmopatías/etiología , Oftalmopatías/diagnóstico , Agudeza Visual , Córnea/patología , Enfermedades de la Conjuntiva/etiología , Enfermedades de la Conjuntiva/diagnóstico
3.
Int J Mol Sci ; 25(12)2024 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-38928397

RESUMEN

Cystic fibrosis (CF), also known as mucoviscidosis, is the most common autosomal recessive genetic disease in the Caucasian population, with an estimated frequency of 1:2000-3000 live births. CF results from the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene localized in the long arm of chromosome 7. The product of CFTR gene expression is CFTR protein, an adenosine triphosphate (ATP)-binding cassette (ABC) transporter that regulates the transport of chloride ions (Cl-) across the apical cell membrane. Primary manifestations of CF include chronic lung and pancreas function impairment secondary to the production of thick, sticky mucus resulting from dehydrated secretions. It is well known that CF can cause both anterior and posterior ocular abnormalities. Conjunctival and corneal xerosis and dry eye disease symptoms are the most characteristic manifestations in the anterior segment. In contrast, the most typical anatomical and functional changes relating to the posterior segment of the eye include defects in the retinal nerve fiber layer (RNFL), vascular abnormalities, and visual disturbances, such as reduced contrast sensitivity and abnormal dark adaptation. However, the complete background of ophthalmic manifestations in the course of CF has yet to be discovered. This review summarizes the current knowledge regarding ocular changes in cystic fibrosis.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística , Fibrosis Quística , Humanos , Fibrosis Quística/metabolismo , Fibrosis Quística/genética , Fibrosis Quística/patología , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/metabolismo , Oftalmopatías/etiología , Oftalmopatías/metabolismo , Oftalmopatías/patología , Mutación , Animales
4.
Radiographics ; 44(7): e230132, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38870047

RESUMEN

A variety of systemic conditions involve the thorax and the eyes. While subtle or nonspecific eye symptoms can be the initial clinical manifestation of some disorders, there can be additional manifestations in the thorax that lead to a specific diagnosis and affect patient outcomes. For instance, the initial clinical manifestation of Sjögren syndrome is dry eye or xerophthalmia; however, the presence of Sjögren lung disease represents a fourfold increase in mortality. Likewise, patients with acute sarcoidosis can initially present with pain and redness of the eye from uveitis in addition to fever and parotitis. Nearly 90% of patients with sarcoidosis have thoracic involvement, and the ophthalmologic symptoms can precede the thoracic symptoms by several years in some cases. Furthermore, a diagnosis made in one system can result in the screening of other organs as well as prompt genetic evaluation and examination of family members, such as in the setting of Marfan syndrome or Ehlers-Danlos syndrome. Multimodality imaging, particularly CT and MRI, plays a vital role in identification and characterization of these conditions. While it is helpful for ophthalmologists to be knowledgeable about these conditions and their associations so that they can order the pertinent radiologic studies, it is also important for radiologists to use the clues from ophthalmologic examination in addition to imaging findings to suggest a specific diagnosis. Systemic conditions with thoracic and ophthalmologic manifestations can be categorized as infectious, inflammatory, autoimmune, neoplastic, or hereditary in origin. The authors describe a spectrum of these conditions based on their underlying cause. ©RSNA, 2024.


Asunto(s)
Oftalmopatías , Enfermedades Torácicas , Humanos , Oftalmopatías/diagnóstico por imagen , Oftalmopatías/etiología , Enfermedades Torácicas/diagnóstico por imagen , Diagnóstico Diferencial , Imagen Multimodal/métodos
5.
Life Sci ; 349: 122730, 2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-38768774

RESUMEN

Chronic respiratory diseases (CRDs) represent a significant proportion of global health burden, with a wide spectrum of varying, heterogenic conditions largely affecting the pulmonary system. Recent advances in immunology and respiratory biology have highlighted the systemic impact of these diseases, notably through the elucidation of the lung-eye axis. The current review focusses on understanding the pivotal role of the lung-eye axis in the pathogenesis and progression of chronic respiratory infections and diseases. Existing literature published on the immunological crosstalk between the eye and the lung has been reviewed. The various roles of the ocular microbiome in lung health are also explored, examining the eye as a gateway for respiratory virus transmission, and assessing the impact of environmental irritants on both ocular and respiratory systems. This novel concept emphasizes a bidirectional relationship between respiratory and ocular health, suggesting that respiratory diseases may influence ocular conditions and vice versa, whereby this conception provides a comprehensive framework for understanding the intricate axis connecting both respiratory and ocular health. These aspects underscore the need for an integrative approach in the management of chronic respiratory diseases. Future research should further elucidate the in-depth molecular mechanisms affecting this axis which would pave the path for novel diagnostics and effective therapeutic strategies.


Asunto(s)
Ojo , Pulmón , Humanos , Pulmón/microbiología , Pulmón/fisiopatología , Ojo/microbiología , Oftalmopatías/fisiopatología , Oftalmopatías/etiología , Animales , Enfermedades Respiratorias/fisiopatología , Enfermedades Respiratorias/microbiología , Enfermedades Respiratorias/virología , Microbiota/fisiología
6.
Eat Weight Disord ; 29(1): 33, 2024 May 06.
Artículo en Inglés | MEDLINE | ID: mdl-38710948

RESUMEN

BACKGROUND: The prevalence of obesity, a chronic disease, is increasing, and obesity is now considered a global epidemic. Eye diseases are also increasing worldwide and have serious repercussions on quality of life as well as increasingly high costs for the community. The relationships between obesity and ocular pathologies are not yet well clarified and are not pathologically homogeneous: they seem to be somehow linked to excess body fat, especially to the distribution of adipose tissue and its ectopic deposits. PURPOSE: Our objective was to examine the associations between obesity and anthropometric indices, including body mass index (BMI), waist circumference (WC), and the waist/hip ratio (WHR), and the risk of most widespread eye diseases, with particular attention given to the most significant metabolic mechanisms. METHODS: This article provides a narrative overview of the effect of obesity and anthropometric measurements of body fat on prevalent eye diseases. We used the MEDLINE/PubMed, CINAHL, EMBASE, and Cochrane Library databases from 1984 to 2024. In addition, we hand-searched references from the retrieved articles and explored a number of related websites. A total of 153 publications were considered. RESULTS: There is significant evidence that obesity is associated with several eye diseases. Waist circumference (WC) and the waist/hip ratio (WHR) have been observed to have stronger positive associations with eye diseases than BMI. CONCLUSIONS: Obesity must be considered a significant risk factor for eye diseases; hence, a multidisciplinary and multidimensional approach to treating obesity, which also affects ocular health, is important. In the prevention and treatment of eye diseases related to obesity, lifestyle factors, especially diet and physical activity, as well as weight changes, both weight loss and weight gain, should not be overlooked. LEVEL OF EVIDENCE: Level V narrative review.


Asunto(s)
Distribución de la Grasa Corporal , Oftalmopatías , Obesidad , Humanos , Tejido Adiposo , Índice de Masa Corporal , Oftalmopatías/epidemiología , Oftalmopatías/etiología , Obesidad/epidemiología , Factores de Riesgo , Circunferencia de la Cintura , Relación Cintura-Cadera
7.
Nutrients ; 16(9)2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38732522

RESUMEN

This study assessed the prevalence of myopia, cataracts, glaucoma, and macular degeneration among Koreans over 40, utilizing data from the 7th Korea National Health and Nutrition Examination Survey (KNHANES VII, 2018). We analyzed 204,973 adults (44% men, 56% women; mean age 58.70 ± 10.75 years), exploring the association between myopia and these eye diseases through multivariate logistic regression, adjusting for confounders and calculating adjusted odds ratios (ORs) with 95% confidence intervals (CIs). Results showed a myopia prevalence of 44.6%, cataracts at 19.4%, macular degeneration at 16.2%, and glaucoma at 2.3%, with significant differences across ages and genders. A potential link was found between myopia and an increased risk of cataracts and macular degeneration, but not with glaucoma. Additionally, a higher dietary intake of carbohydrates, polyunsaturated and n-6 fatty acids, vitamins, and minerals correlated with lower risks of these diseases, underscoring the importance of the diet in managing and preventing age-related eye conditions. These findings highlight the need for dietary considerations in public health strategies and confirm myopia as a significant risk factor for specific eye diseases in the aging Korean population.


Asunto(s)
Catarata , Dieta , Degeneración Macular , Miopía , Encuestas Nutricionales , Humanos , Masculino , Femenino , República de Corea/epidemiología , Persona de Mediana Edad , Estudios Transversales , Miopía/epidemiología , Miopía/etiología , Anciano , Prevalencia , Degeneración Macular/epidemiología , Degeneración Macular/etiología , Adulto , Factores de Riesgo , Catarata/epidemiología , Catarata/etiología , Dieta/estadística & datos numéricos , Dieta/efectos adversos , Oftalmopatías/epidemiología , Oftalmopatías/etiología , Glaucoma/epidemiología , Glaucoma/etiología , Oportunidad Relativa , Nutrientes
8.
J AAPOS ; 28(3): 103925, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38697387

RESUMEN

BACKGROUND: NGLY1 deficiency is a rare autosomal recessive disorder with core features of global developmental delay, liver enzyme abnormalities, movement disorder, polyneuropathy, and hypo- or alacrima. We characterized the full spectrum and evolution of the ocular phenotype in a prospective natural history of NGLY1 deficiency. METHODS: We collected ophthalmological data on 29 individuals with NGLY1 deficiency in a natural history study. Medical records were reviewed to confirm caregiver-reported symptoms. Of the 29, 15 participants appeared for at least one ophthalmological examination. RESULTS: Caregivers reported at least one ocular sign or symptom in 90% of participants (26/29), most commonly decreased tears, refractive error, and chronic infection. Daily eye medication, including artificial tears, ophthalmic ointment, and topical antibiotics were used by 62%. Ophthalmological examination confirmed refractive errors in 93% (14/15) and corneal abnormalities in 73% (11/15). CONCLUSIONS: Given nearly universal hypolacrima and additional prominent ocular findings in NGLY1 deficiency, a targeted ocular history and ophthalmologic examination may facilitate prompt diagnosis and early initiation of preventive eye care, preserving vision and overall ocular health.


Asunto(s)
Errores de Refracción , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Adulto Joven , Oftalmopatías/diagnóstico , Oftalmopatías/etiología , Estudios Longitudinales , Fenotipo , Estudios Prospectivos , Errores de Refracción/diagnóstico , Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/metabolismo
9.
Harefuah ; 163(5): 276-277, 2024 May.
Artículo en Hebreo | MEDLINE | ID: mdl-38734938

RESUMEN

INTRODUCTION: Ophthalmology is a broad branch of medicine, which includes an extensive range of sub-specialties on one hand, and interfaces with other fields of medicine on the other. This issue contains papers from different sub-specialties of ophthalmology, that together cover several of the most important issues in this field. These papers present the topics in a manner compatible with the wide readership of the journal, and touch upon the most current updates and innovations. The original articles in this issue deal with treatments for the prevention of myopia progression in children, treatment of complicated cases of retinal detachment in children, ocular manifestations of vascular abnormalities in patients with coronavirus, and a series of patients with corneal damage due to ultraviolet-C (UVC) lamps intended to clear the air of this virus. The review papers describe glaucoma and the current change in its treatment paradigm, which focuses on earlier intervention, ocular manifestations of systemic autoimmune diseases, and the possibilities for artificial corneal implantation. We hope that this special issue will be of interest and clinical value to its readers.


Asunto(s)
Oftalmología , Humanos , Oftalmología/métodos , Niño , Miopía/terapia , Oftalmopatías/terapia , Oftalmopatías/etiología , Glaucoma/terapia , COVID-19 , Desprendimiento de Retina/etiología , Desprendimiento de Retina/terapia
10.
Wiad Lek ; 77(3): 445-449, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38691785

RESUMEN

OBJECTIVE: Aim: To analyze the data and evaluate the prevalence of ocular lesions in patients with moderate ulcerative colitis. PATIENTS AND METHODS: Materials and Methods: We observed 112 patients aged 18-75 years old with clinically, endoscopically and histologically confirmed moderate ulcerative colitis which lasted at least 6 months. An ophthalmologic exam was performed to determine the presence of ocular symptoms. RESULTS: Results: Of the 112 patients with moderate ulcerative colitis, 21 (18,75%) had the following ocular lesions: episcleritis - 7 patients (6,25%), keratopathy - 5 patients (4,46%), uveitis - 5 patients (4,46%), cataract - 2 (1,78%) and scleritis - 2 (1.78%). CONCLUSION: Conclusions: Because ocular symptoms in patients with UC are often nonspecific, it may be beneficial to perform ophthalmologic examinations as a routine follow-up component of in such patients.


Asunto(s)
Colitis Ulcerosa , Humanos , Colitis Ulcerosa/complicaciones , Colitis Ulcerosa/epidemiología , Adulto , Persona de Mediana Edad , Masculino , Femenino , Anciano , Adulto Joven , Adolescente , Prevalencia , Escleritis/etiología , Escleritis/epidemiología , Uveítis/etiología , Uveítis/epidemiología , Oftalmopatías/etiología , Oftalmopatías/epidemiología
11.
Ned Tijdschr Geneeskd ; 1682024 May 23.
Artículo en Holandés | MEDLINE | ID: mdl-38780190

RESUMEN

Extra-intestinal manifestations (EIM) associated with Crohn's disease (CD) are frequently observed and can manifest as either the initial symptom or develop later in the disease course following gastrointestinal symptoms. The most common EIM affect the joints, skin, or eyes, with some correlating with active CD activity while others may occur during periods of inactivity. EIM can affect both pediatric and adult CD patients, potentially reducing their quality of life if not promptly identified and treated. Thus, emphasizing the prevalence and clinical presentation is essential to initiate appropriate diagnostic assessments and effectively treat both EIM and the underlying CD. In this case series, we present two pediatric and one adult case where EIM preceded CD diagnosis, resulting in delayed CD diagnosis. Additionally, we outline the most prevalent EIM, their epidemiology, and associated symptoms.


Asunto(s)
Enfermedad de Crohn , Humanos , Enfermedad de Crohn/complicaciones , Enfermedad de Crohn/diagnóstico , Masculino , Femenino , Adulto , Niño , Calidad de Vida , Enfermedades de la Piel/etiología , Enfermedades de la Piel/diagnóstico , Adolescente , Oftalmopatías/etiología , Oftalmopatías/diagnóstico
13.
J Fr Ophtalmol ; 47(6): 104187, 2024 Jun.
Artículo en Francés | MEDLINE | ID: mdl-38663225

RESUMEN

PURPOSE: This article aims to describe the causes of ophthalmological disqualification from the military services detected during specialist consultations conducted at Army Training Hospitals. METHODS: This observational, cross-sectional, multicenter study retrospectively included individuals deemed as "unfit for military service" due to eye diseases identified during the specialist consultation conducted at 3 ATHs between January 2020 and December 2021. The data collected included age, medical and surgical history, reasons for ophthalmological disqualification, uncorrected distance visual acuity, best corrected distance visual acuity and cycloplegic refraction. RESULTS: Over this period, 133 subjects (98 men and 35 women) were included. Thirty-eight candidates (28.6%) were declared unfit due to a refractive error beyond the required limits, including 30 myopic subjects in excess of -10 diopters (D) and 8 hypermetropic subjects over +8 D. Twenty-five candidates (18.8%) were unfit under the age of 21 years due to corneal refractive surgery performed before the required age. Four subjects (3.0%) were unfit due to phakic intraocular lenses. Degenerative conditions were observed in 23 subjects (17.3%), including 21 patients with severe keratoconus. Other causes of incapacity were linked to oculo-orbital trauma in 11 subjects (8.3%), moderate or severe amblyopia in 7 patients (5.3%), congenital causes in 7 subjects (5.3%), inflammatory or infectious diseases in 7 candidates (5.3%), hereditary causes in 6 subjects (4.5%) and undetermined visual dysfunctions in 4 subjects (3.0%). CONCLUSION: The three main causes of ophthalmological disqualification were high ametropia, refractive surgery performed before the required age and keratoconus.


Asunto(s)
Oftalmopatías , Personal Militar , Humanos , Estudios Transversales , Masculino , Femenino , Adulto , Personal Militar/estadística & datos numéricos , Estudios Retrospectivos , Adulto Joven , Oftalmopatías/epidemiología , Oftalmopatías/diagnóstico , Oftalmopatías/etiología , Persona de Mediana Edad , Agudeza Visual/fisiología , Errores de Refracción/epidemiología , Errores de Refracción/diagnóstico , Adolescente
14.
Klin Monbl Augenheilkd ; 241(5): 626-632, 2024 May.
Artículo en Inglés, Alemán | MEDLINE | ID: mdl-38574680

RESUMEN

Ocular manifestations of rheumatic diseases are common and contribute significantly to the morbidity and reduced quality of life of affected patients. Knowledge of typical clinical manifestations is important for the rheumatologist in order to support the reference of patients with corresponding symptoms for ophthalmological consultation at an early stage of disease, or to initiate regular screening examinations (e.g. in patients with Behçet's syndrome). Conversely, a (possibly urgent) rheumatological assessment is crucial for certain ophthalmological diseases, in order not to overlook a (possibly fatal) systemic associated disease. Patients with rheumatic or inflammatory ocular diseases should always be informed by the treating physician about possible symptoms of other organ manifestations, in order to avoid a delayed diagnosis. "Classic" associations for uveitis are (HLA-B27-associated) spondyloarthritis and acute anterior uveitis, as well as retinal vasculitis with or without panuveitis and Behçet's syndrome. In patients with rheumatoid arthritis or ANCA-associated vasculitis, however, scleritis (with or without peripheral ulcerative keratitis) typically occurs, but a variety of other findings are also possible. Close interdisciplinary collaboration, particularly regarding therapeutic decisions, is crucial to ensuring a good prognosis for the patient.


Asunto(s)
Oftalmopatías , Enfermedades Reumáticas , Humanos , Enfermedades Reumáticas/complicaciones , Enfermedades Reumáticas/diagnóstico , Oftalmopatías/etiología , Oftalmopatías/diagnóstico , Oftalmopatías/terapia , Adulto , Diagnóstico Diferencial , Femenino , Masculino
15.
BMC Ophthalmol ; 24(1): 171, 2024 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-38627705

RESUMEN

BACKGROUND: To explore the safety of Neodymium:Yttrium-aluminum-garnet (Nd:YAG) laser vitreolysis based on the histological examination of the retina and the alteration of vitreous cytokines in the rabbits. METHODS: Nine male New Zealand rabbits underwent Nd:YAG laser vitreolysis of 10 mJ x 500 pulses in the left eyes, while the right eyes were used as controls. Intraocular pressure, color fundus photography, and ultrasound B scan were measured before, as well as 1 day, 4 weeks, and 12 weeks after Nd:YAG laser vitreolysis. Three rabbits were euthanized 1 day, 4 weeks, and 12 weeks after treatment, respectively. Terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) staining and hematoxylin-eosin (H&E) staining were used to look for pathological changes in the retina. An enzyme-linked immunosorbent assay (ELISA) was utilized to detect the expression of vascular endothelial growth factor (VEGF) and some inflammatory cytokines, including interferon inducible protein 10 (IP-10), monocyte chemoattractant protein 1 (MCP-1) and interlenkin 6 (IL-6) in the vitreous humor. The ascorbic acid (AsA) and total reactive antioxidant potential (TRAP) in the vitreous humor were also measured. RESULTS: Following Nd:YAG laser vitreolysis, the levels of VEGF, IP-10, MCP-1, IL6, AsA, and TRAP in the vitreous humor did not change substantially (P > 0.05). There were no detectable pathological changes in the retinal tissues, and no apoptotic signal was found. CONCLUSIONS: Rabbits tolerate Nd:YAG laser vitreolysis without observable impact on retinal tissue or the microenvironment of the vitreous.


Asunto(s)
Oftalmopatías , Terapia por Láser , Láseres de Estado Sólido , Masculino , Conejos , Animales , Factor A de Crecimiento Endotelial Vascular , Láseres de Estado Sólido/efectos adversos , Quimiocina CXCL10 , Cuerpo Vítreo/cirugía , Oftalmopatías/etiología , Retina , Antioxidantes , Ácido Ascórbico , Terapia por Láser/efectos adversos
16.
Gastroenterology ; 167(2): 315-332, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38490347

RESUMEN

BACKGROUND & AIMS: Patients with inflammatory bowel disease (IBD) frequently develop extraintestinal manifestations (EIMs) that contribute substantially to morbidity. We assembled the largest multicohort data set to date to investigate the clinical, serologic, and genetic factors associated with EIM complications in IBD. METHODS: Data were available in 12,083 unrelated European ancestry IBD cases with presence or absence of EIMs (eg, ankylosing spondylitis [ankylosing spondylitis and sacroiliitis], primary sclerosing cholangitis [PSC], peripheral arthritis, and skin and ocular manifestations) across 4 cohorts (Cedars-Sinai Medical Center, National Institute for Diabetes and Digestive and Kidney Diseases IBD Genetics Consortium, Sinai Helmsley Alliance for Research Excellence Consortium, and Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn's Disease cohort). Clinical and serologic parameters were analyzed by means of univariable and multivariable regression analyses using a mixed-effects model. Within-case logistic regression was performed to assess genetic associations. RESULTS: Most EIMs occurred more commonly in female subjects (overall EIM: P = 9.0E-05, odds ratio [OR], 1.2; 95% CI, 1.1-1.4), with CD (especially colonic disease location; P = 9.8E-09, OR, 1.7; 95% CI, 1.4-2.0), and in subjects who required surgery (both CD and UC; P = 3.6E-19, OR, 1.7; 95% CI, 1.5-1.9). Smoking increased risk of EIMs except for PSC, where there was a "protective" effect. Multiple serologic associations were observed, including with PSC (anti-nuclear cytoplasmic antibody; IgG and IgA, anti-Saccharomyces cerevisiae antibodies; and anti-flagellin) and any EIM (anti-nuclear cytoplasmic antibody; IgG and IgA, anti-Saccharomyces cerevisiae antibodies; and anti-Pseudomonas fluorescens-associated sequence). We identified genome-wide significant associations within major histocompatibility complex (ankylosing spondylitis and sacroiliitis, P = 1.4E-15; OR, 2.5; 95% CI, 2.0-3.1; PSC, P = 2.7E-10; OR, 2.8; 95% CI, 2.0-3.8; ocular, P = 2E-08, OR, 3.6; 95% CI, 2.3-5.6; and overall EIM, P = 8.4E-09; OR, 2.2; 95% CI, 1.7-2.9) and CPEB4 (skin, P = 2.7E-08; OR, 1.5; 95% CI, 1.3-1.8). Genetic associations implicated tumor necrosis factor, JAK-STAT, and IL6 as potential targets for EIMs. Contrary to previous reports, only 2% of our subjects had multiple EIMs and most co-occurrences were negatively correlated. CONCLUSIONS: We have identified demographic, clinical, and genetic associations with EIMs that revealed underlying mechanisms and implicated novel and existing drug targets-important steps toward a more personalized approach to IBD management.


Asunto(s)
Colangitis Esclerosante , Colitis Ulcerosa , Enfermedad de Crohn , Humanos , Femenino , Masculino , Adulto , Colangitis Esclerosante/inmunología , Colangitis Esclerosante/genética , Colangitis Esclerosante/diagnóstico , Colangitis Esclerosante/complicaciones , Persona de Mediana Edad , Colitis Ulcerosa/inmunología , Colitis Ulcerosa/genética , Colitis Ulcerosa/diagnóstico , Enfermedad de Crohn/inmunología , Enfermedad de Crohn/genética , Enfermedad de Crohn/diagnóstico , Adolescente , Factores de Riesgo , Niño , Espondilitis Anquilosante/genética , Espondilitis Anquilosante/inmunología , Espondilitis Anquilosante/diagnóstico , Espondilitis Anquilosante/complicaciones , Predisposición Genética a la Enfermedad , Adulto Joven , Factores Sexuales , Enfermedades de la Piel/etiología , Enfermedades de la Piel/inmunología , Enfermedades de la Piel/genética , Oftalmopatías/etiología , Oftalmopatías/inmunología , Oftalmopatías/diagnóstico , Oftalmopatías/genética , Oftalmopatías/epidemiología , Fenotipo , Enfermedades Inflamatorias del Intestino/genética , Enfermedades Inflamatorias del Intestino/inmunología , Enfermedades Inflamatorias del Intestino/diagnóstico , Modelos Logísticos , Anciano
17.
Eye (Lond) ; 38(9): 1748-1754, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38548942

RESUMEN

BACKGROUND: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a hematoinflammatory disease that typically affects adults. It results from a somatic mutation of the E1 ubiquitin conjugating enzyme encoded by the UBA1 gene. VEXAS is frequently accompanied by myelodysplastic syndrome (MDS). The purpose of this study is to describe the ocular and orbital manifestations of VEXAS patients in a case series in our medical centre. METHODS: A retrospective chart review was performed for all patients who were diagnosed with VEXAS syndrome in a tertiary medical centre over two years. RESULTS: Eight patients were identified with VEXAS. In six patients, the diagnosis was confirmed by genomic sequencing. Two patients were identified based on their phenotype. All patients were males. The mean age at diagnosis was 78.7 years. In two patients, the ocular manifestation was the presenting symptom for VEXAS. Seven patients (87.5%) had history of MDS. Systemic inflammation manifestations include: skin rash (n = 5), recurrent fevers (n = 2), relapsing polychondritis (n = 2), pleuritis and pleural effusion (n = 2), poly arteritis nodosa- PAN (n = 1) and thrombophlebitis (n = 1). Seven (87%) patients were presented with periorbital oedema. Three patients showed orbital inflammation. Dacryoadenitis was observed in two patients, and extraocular muscle (EOM) myositis was detected in two patients. Four patients demonstrated ocular inflammation such as: episcleritis, scleritis and anterior uveitis. CONCLUSION: ocular manifestations in VEXAS include orbital inflammation, dacryoadenitis, myositis, uveitis, scleritis, episcleritis and periorbital oedema. We recommend that in old male patients, with history of haematological disorder, presenting with ocular symptom, VEXAS investigation should be taken into consideration.


Asunto(s)
Enfermedades Orbitales , Humanos , Masculino , Estudios Retrospectivos , Anciano , Anciano de 80 o más Años , Enfermedades Orbitales/etiología , Enfermedades Orbitales/diagnóstico , Persona de Mediana Edad , Enzimas Activadoras de Ubiquitina/genética , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/complicaciones , Síndromes Mielodisplásicos/diagnóstico , Escleritis/diagnóstico , Escleritis/etiología , Oftalmopatías/etiología , Oftalmopatías/genética , Oftalmopatías/diagnóstico , Mutación , Enfermedades Autoinflamatorias Hereditarias/genética , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Enfermedades Autoinflamatorias Hereditarias/complicaciones
18.
Eur J Haematol ; 113(1): 66-71, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38549191

RESUMEN

The rise of immuno-oncology, including the use of chimeric antigen receptor T-cell (CAR-T) therapy is bringing in a new wave of cancer treatments, particularly in hematologic malignancies. However, data on their adverse events, particularly of the eye, is under-reported. To assess the ocular adverse events associated with the six FDA-approved CAR-T cell therapies, a disproportionality analysis utilizing the FAERS database was conducted from the first quarter of 2017 to the third quarter of 2023, as well as a systematic review of case reports of ocular events following CAR-T cell therapy up to December 20, 2023. A total of 53 ocular adverse events were identified from the FDAs FAERS database. The adverse events most frequently observed were mydriasis and xerophthalmia with tisagenlecleucel (Kymriah). The systematic review resulted in 8 case reports encompassing 19 patients which included a total of 27 events. This study demonstrates the importance of anticipation of potential ocular adverse events by ophthalmologists and oncologists as they can greatly contribute to morbidity in patients with cancer.


Asunto(s)
Inmunoterapia Adoptiva , Farmacovigilancia , Humanos , Oftalmopatías/etiología , Oftalmopatías/terapia , Oftalmopatías/inducido químicamente , Neoplasias Hematológicas/terapia , Inmunoterapia Adoptiva/efectos adversos , Inmunoterapia Adoptiva/métodos
19.
J Neuroophthalmol ; 44(2): 157-161, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38457238

RESUMEN

BACKGROUND: To evaluate the population-based frequency and severity of multiple sclerosis (MS)-related ocular diseases. METHODS: Retrospective, population-based study examining patients with MS between January 1, 1998 and December 31, 2011. Patients were identified using the Rochester Epidemiology Project, which is a record-linkage system of medical records for all patient-physician encounters among Olmsted County, Minnesota residents. Diagnosis of MS was confirmed based on neuroimaging, cerebrospinal fluid studies, and serum studies for each patient according to the 2017 McDonald criteria. Patient data were obtained using the medical records and followed through April 1, 2018. RESULTS: Of the 116 patients with MS, 66% were female and the median age of onset was 36 years (interquartile range 27.5-43.5 years). About half (61/116, 53%) had MS-related neuro-ophthalmic manifestations during their disease course, and about one-fourth (33/116, 28%) had visual symptoms as their presenting symptom of MS, most commonly as optic neuritis (26/116, 22%). Optic neuritis was the leading MS-related ocular condition (37%), followed by internuclear ophthalmoplegia (16%) and nystagmus (13%). Optic neuritis was mostly unilateral (40/43, 93%), with 16% (6/43) having a visual acuity of 20/200 or worse at nadir but ultimately 95% (35/37) improving to a visual acuity of 20/40 or better. CONCLUSIONS: This study provides the population-based frequency of MS-related ocular disease, which demonstrates a high frequency of ocular manifestations in MS both at disease onset and during the disease course, emphasizing the utility of neuro-ophthalmologists, or collaboration between neurologists and ophthalmologists, in the care of patients with MS.


Asunto(s)
Esclerosis Múltiple , Humanos , Femenino , Masculino , Adulto , Estudios Retrospectivos , Esclerosis Múltiple/epidemiología , Esclerosis Múltiple/diagnóstico , Esclerosis Múltiple/complicaciones , Minnesota/epidemiología , Persona de Mediana Edad , Oftalmopatías/epidemiología , Oftalmopatías/etiología , Oftalmopatías/diagnóstico , Neuritis Óptica/epidemiología , Neuritis Óptica/diagnóstico , Neuritis Óptica/etiología , Adulto Joven
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