BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjögren's syndrome and with some clinical features.

BLK and BANK1 in primary Sjögren's syndrome (pSS) have scarcely been evaluated and the results are inconclusive. The aim of our study was to determine whether single nucleotide variants (SNVs) located within BLK or BANK1 are associated with susceptibility, clinical and serological features, and smoking in pSS. BLK rs13277113A/G, BANK1 rs10516487G/A and rs3733197G/A were genotyped in 203 cases and 424 controls using a TaqMan® SNP genotyping assay. The BLK rs13277113A allele showed association with pSS under the allelic (OR 1.35, p = 0.02), and recessive (OR 1.83, p = 0.003) model, while, BANK1 rs3733197G/A showed association under the dominant model (OR 2.90, p = 0.043). Interactions between BANK1 and BLK genotypes also showed association (OR 2.36, p < 0.0001). In addition, BLK rs13277113A/G was associated with protection against arthritis and BANK1 rs10516487G/A with both arthritis and keratoconjunctivitis sicca, meanwhile, BANK1 rs3733197G/A was associated with smoking in patients with pSS. This is the first study to describe an association between BLK and susceptibility to pSS in a Latin-American population. Our data also shows a first evidence of association between interactions of BLK and BANK1 in pSS, and association of BLK and BANK1with arthritis, keratoconjunctivitis sicca and smoking in patients with pSS.

Psychosocial and economic impact of uveitis in Mexico.

OBJECTIVE: To determine the psychosocial and economic impact suffered by patients diagnosed with uveitis in Mexico. METHODS: Survey in uveitis-diagnosed patients. Demographic data and socioeconomic level were recorded. Symptoms, time to diagnosis, type of treatment, behavior, attitudes and feelings towards the disease were identified. RESULTS: One hundred surveys were conducted in patients with uveitis, who had a mean age of 45 ± 17.08 years, and socioeconomic level ≤ D; 54 were females. Diagnostic delay was 1.87 ± 2.73 years. Annually, patients attend 2.1 ± 2.14 appointments per month, and are admitted once to the emergency department and remain hospitalized for 3.7 days. Patients use systemic treatment with steroidal anti-inflammatory drugs (53 %), immunosuppressant agents (31 %), biological therapy (7 %), topical treatment with lubricants (44 %) or steroids (26 %) and undergo surgery (39 %). Observed comorbidities include hypertension, diabetes mellitus, rheumatoid arthritis (18 %), Sjögren's syndrome, systemic lupus erythematosus, and nonspecific chronic ulcerative colitis. Complications: visual impairment, cataracts and blindness. Uveitis affects their life in 83 % of cases, in 41 % does it daily, and 49 % need care from another person. Seventy-nine percent receive private care and 43 % have social security, with $ 3,590 ± $ 2,730.65 pesos being spent monthly on medicines, transportation, medical appointments and studies. Annually, work absenteeism is 8.5 ± 14.56 days, plus 7.0 days of disability or hospitalization; 51% refer lack of support to learn about the disease. CONCLUSIONS: This is the first national study to portray the condition of patients with uveitis and the shortcomings they go through, including the economic and biopsychosocial fields.

OBJETIVO: Conocer el impacto psicosocial y económico quede la uveítis en México. MÉTODOS: Encuesta en pacientes diagnosticados con uveítis. Se registraron datos demográficos y nivel socioeconómico. Se identificaron síntomas, tiempo al diagnóstico, tratamiento, comportamiento, actitudes y sentimientos ante la enfermedad. RESULTADOS: Se realizaron 100 encuestas a pacientes con uveítis, con edad media de 45 ± 17.08 años, nivel socioeconómico ≤ D; 54 eran mujeres. El diagnóstico se realizó al 1.87 ± 2.73 años. Acuden anualmente a cita 2.1 ± 2.14 mes, más de 1 a urgencias y son hospitalizados 3.7 días. Utilizan tratamiento sistémico con antiinflamatorios esteroideos (53 %), inmunosupresor (31 %), terapia biológica (7 %), tratamiento tópico con lubricantes (44 %), esteroides (26 %) y cirugías (39 %). Comorbilidades observadas: hipertensión arterial, diabetes mellitus, artritis reumatoide (18 %), síndrome de Sjögren, lupus y colitis ulcerativa crónica inespecífica. Complicaciones: deterioro visual, cataratas y ceguera. La uveítis afecta su vida en el 83 % de los casos, en el 41 % a diario y el 49 % necesitan cuidados de otra persona. El 79 % reciben atención privada, el 43 % cuenta con seguridad social, gastando mensualmente $3,590 ± $2,730.65 pesos en medicamentos, transporte, consulta médicas y estudios. Anualmente con ausentismo laboral de 8.5 ± 14.56 días, más 7.0 días de incapacidad u hospitalización. El 51 % refieren falta de apoyo para conocer la enfermedad. CONCLUSIONES: Se trata del primer estudio nacional que escenifica la condición de los pacientes con uveítis y las insuficiencias por las que atraviesan, incluyendo el ámbito económico y biopsicosocial.

Ocular Inflammatory Events Following COVID-19 Vaccination in the Paediatric Population: A Multinational Case Series.

BACKGROUND: Ocular inflammatory events following COVID-19 vaccination have been reported in the adult population. METHODS: Multinational case series of patients under the age of 18 diagnosed with ocular inflammatory events within 28 days of COVID-19 vaccination. RESULTS: Twenty individuals were included. The most common event was anterior uveitis (n = 8, 40.0%), followed by intermediate uveitis (7 patients, 35%), panuveitis (4 patients, 20%), and posterior uveitis (1 patient, 5%). The event was noticed in the first week after vaccination in 11 patients (55.0%). Twelve patients (60.0%) had a previous history of intraocular inflammatory event. Patients were managed with topical corticosteroids (n = 19, 95.0%), oral corticosteroids (n = 10, 50.0%), or increased dose of immunosuppressive treatment (n = 6, 30.0%). Thirteen patients (65.0%) had a complete resolution of the ocular event without complications. All patients had a final visual acuity unaffected or less than three lines of loss. CONCLUSION: Ocular inflammatory events may happen in the paediatric population following COVID-19 vaccination. Most events were successfully treated, and all showed a good visual outcome.

Risk factors for subretinal fibrosis in patients with Vogt Koyanagi Harada syndrome.

PURPOSE: To identify the risk factors for the development of subretinal fibrosis (SRF) among patients with Vogt-Koyanagi-Harada (VKH) syndrome. METHODS: In this case-control study, electronic clinical records from patients diagnosed with VKH syndrome who attended the Inflammatory Eye Disease Clinic at a tertiary care ophthalmology reference center were assessed to identify risk factors from demographic, clinical, and epidemiological variables. Cases were defined as SRF and VKH, whereas the controls were VKH patients without SRF. RESULTS: A total of 150 electronic charts were reviewed, 92 patients with a follow-up longer than 12 months were included; 39 cases and 53 controls. A multivariate analysis found bullous serous retinal detachment as a significant risk factor for SRF (adjusted OR 8.93, 95% CI 1.94-41.1). CONCLUSION: Patients with VKH syndrome who develop a bullous retinal detachment have an 8 times higher risk of developing SRF in the long term.

Autoantibodies Against Ubiquitous and Confined Antigens in Patients With Ocular, Neuro-Ophthalmic and Congenital Cerebral Toxoplasmosis.

Toxoplasma gondii infection can trigger autoreactivity by different mechanisms. In the case of ocular toxoplasmosis, disruption of the blood-retinal barrier may cause exposure of confined retinal antigens such as recoverin. Besides, cross-reactivity can be induced by molecular mimicry of parasite antigens like HSP70, which shares 76% identity with the human ortholog. Autoreactivity can be a determining factor of clinical manifestations in the eye and in the central nervous system. We performed a prospective observational study to determine the presence of autoantibodies against recoverin and HSP70 by indirect ELISA in the serum of 65 patients with ocular, neuro-ophthalmic and congenital cerebral toxoplasmosis. We found systemic autoantibodies against recoverin and HSP70 in 33.8% and 15.6% of individuals, respectively. The presence of autoantibodies in cases of OT may be related to the severity of clinical manifestations, while in cases with CNS involvement they may have a protective role. Unexpectedly, anti-recoverin antibodies were found in patients with cerebral involvement, without ocular toxoplasmosis; therefore, we analyzed and proved cross-reactivity between recoverin and a brain antigen, hippocalcin, so the immunological phenomenon occurring in one immune-privileged organ (e.g. the central nervous system) could affect the environment of another (egg. the eye).

Ultrabiomicroscopic Findings in Acute Uveitic, Convalescent and Chronic Recurrent Stage of Vogt-Koyanagi-Harada Syndrome.

PURPOSE: To describe the ultrabiomicroscopy (UBM) characteristics in patients with uveitic, convalescent, and recurrent Vogt-Koyanagi-Harada (VKH) disease. METHODS: In this prospective, non-interventional, and observational study, all UBM variables, namely pars plicata and pars plana thickness, ciliochoroidal detachment, angle chamber, anterior chamber depth, ID2, and presence of ciliary processes, were compared between acute uveitic, convalescent, and chronic-recurrent phases. RESULTS: Ninety-one eyes were analyzed. Ciliochoroidal detachment (20%) and unclear ciliary processes (15%) are the most characteristic findings of the uveitic phase. At 1 and 3 months, ciliochoroidal detachment is no longer observed. In recurrent phase, pars plicata and pars plana thickness increases again and then decreases after the first month of treatment. Convalescent-phase does not show significant differences in UBM variables after a 6-month follow up. CONCLUSIONS: UBM may have a role in evaluating response to treatment in uveitic and recurrent phases and in the early detection of recurrences.

Impacto psicosocial y económico de la uveítis en México / Psychosocial and economic impact of uveitis in Mexico

Resumen Objetivo: Conocer el impacto psicosocial y económico quede la uveítis en México. Métodos: Encuesta en pacientes diagnosticados con uveítis. Se registraron datos demográficos y nivel socioeconómico. Se identificaron síntomas, tiempo al diagnóstico, tratamiento, comportamiento, actitudes y sentimientos ante la enfermedad. Resultados: Se realizaron 100 encuestas a pacientes con uveítis, con edad media de 45 ± 17.08 años, nivel socioeconómico ≤ D; 54 eran mujeres. El diagnóstico se realizó al 1.87 ± 2.73 años. Acuden anualmente a cita 2.1 ± 2.14 mes, más de 1 a urgencias y son hospitalizados 3.7 días. Utilizan tratamiento sistémico con antiinflamatorios esteroideos (53 %), inmunosupresor (31 %), terapia biológica (7 %), tratamiento tópico con lubricantes (44 %), esteroides (26 %) y cirugías (39 %). Comorbilidades observadas: hipertensión arterial, diabetes mellitus, artritis reumatoide (18 %), síndrome de Sjögren, lupus y colitis ulcerativa crónica inespecífica. Complicaciones: deterioro visual, cataratas y ceguera. La uveítis afecta su vida en el 83 % de los casos, en el 41 % a diario y el 49 % necesitan cuidados de otra persona. El 79 % reciben atención privada, el 43 % cuenta con seguridad social, gastando mensualmente $3,590 ± $2,730.65 pesos en medicamentos, transporte, consulta médicas y estudios. Anualmente con ausentismo laboral de 8.5 ± 14.56 días, más 7.0 días de incapacidad u hospitalización. El 51 % refieren falta de apoyo para conocer la enfermedad. Conclusiones: Se trata del primer estudio nacional que escenifica la condición de los pacientes con uveítis y las insuficiencias por las que atraviesan, incluyendo el ámbito económico y biopsicosocial.

Abstract Objective: Determine the psychosocial and economic impact suffered by patients diagnosed with uveitis in Mexico. Methods: Survey in uveitis-diagnosed patients. Demographic data and socioeconomic level were recorded. Symptoms, time to diagnosis, type of treatment, behavior, attitudes and feelings towards the disease were identified. Results: One hundred surveys were conducted in patients with uveitis, who had a mean age of 45 ± 17.08 years, and socioeconomic level ≤ D; 54 were females. Diagnostic delay was 1.87 ± 2.73 years. Annually, patients attend 2.1 ± 2.14 appointments per month, and are admitted once to the emergency department and remain hospitalized for 3.7 days. Patients use systemic treatment with steroidal anti-inflammatory drugs (53 %), immunosuppressant agents (31 %), biological therapy (7 %), topical treatment with lubricants (44 %) or steroids (26 %) and undergo surgery (39 %). Observed comorbidities include hypertension, diabetes mellitus, rheumatoid arthritis (18 %), Sjögren’s syndrome, systemic lupus erythematosus, and nonspecific chronic ulcerative colitis. Complications: visual impairment, cataracts and blindness. Uveitis affects their life in 83 % of cases, in 41 % does it daily, and 49 % need care from another person. Seventy-nine percent receive private care and 43 % have social security, with $ 3,590 ± $ 2,730.65 pesos being spent monthly on medicines, transportation, medical appointments and studies. Annually, work absenteeism is 8.5 ± 14.56 days, plus 7.0 days of disability or hospitalization; 51% refer lack of support to learn about the disease. Conclusions: This is the first national study to portray the condition of patients with uveitis and the shortcomings they go through, including the economic and biopsychosocial fields.

Echographic findings in the late stages of Vogt-Koyanagi-Harada disease in mexican population / Resultados ecográficos nas fases atrasadas da doença de Vogt-Koyanagi-Harada na população mexicana

Purpose: To correlate clinical findings of Vogt-Koyanagi-Harada disease with standardized echography findings in a cross-sectional, descriptive and observational study. Methods: Patients with Vogt-Koyanagi-Harada disease in the convalescent and recurrence phases were evaluated with standardized ocular echography. Eyes with opaque media were excluded. Clinical findings were correlated with echographic data. Results: Thirty-seven eyes of 25 patients were included. Best corrected visual acuity was in average 20/100 (0.70 logMAR). Clinical findings included: sunset glow fundus (92%), pigment migration (92%), nummular chorioretinal depigmented scars (68%) and subretinal fibrosis (64.8%). Standardized echography was able to recognize all the cases with subretinal fibrosis (n=24) described clinically. Standardized echography showed a 100% sensitivity and specificity of finding subretinal fibrosis. Subretinal fibrosis in patients with Vogt-Koyanagi-Harada represents a risk factor for low vision. In our patients’ eyes, presence of subretinal fibrosis had a 2.5 time relative risk of having a visual acuity equal or worst to 20/70. Conclusions: Standardized echography represents a useful tool in patients with VKH in the chronic (convalescence and recurrence) phase of the disease. Subretinal fibrosis, a sight threatening complication in the convalescence and recurrent phases of Vogt-Koyanagi-Harada, can be diagnosed with ocular echography, with characteristic images. Knowledge of these images can be useful in cases with opaque media and bilateral anterior segment granulomatous inflammatory disease. .

Objetivo: Correlacionar achados clínicos da síndrome de Vogt-Koyanagi-Harada com resultados ecográficos padronizado da doença em um estudo transversal, descritivo e observacional. Métodos: Pacientes com a doença de Vogt-Koyanagi-Harada, o convalescente e recorrência em fases padronizadas foram avaliados com ecografia ocular. Olhos com material opaco foram excluídos. Achados clínicos foram correlacionados com dados ecográficos. Resultados: Um total de 25 pacientes e trinta e sete olhos foram incluídos no estudo. A acuidade visual (AV) 20/100 foi em média 0.70 logMAR. Os achados clínicos incluídos: sunset glow fundus (92%), pigmento migração (92%), numular despigmentado cicatrizes coriorretinianas (68%) e fibrose sub-retiniana (64,8%). A ecografia padronizada foi capaz de reconhecer todos os casos de fibrose sub-retiniana (n= 24) descrito clinicamente. A ecografia revelou um padrão 100% de sensibilidade e especificidade do diagnóstico fibrose sub-retiniana. Sub-retiniana em pacientes com fibrose Vogt-Koyanagi-Harada representa um fator de risco para a baixa visão. Em nossos pacientes olhos, presença de fibrose subretiniana tinham um risco relativo 2,5 hora de ter uma acuidade visual igual ou pior para 20/70. Conclusão: Ecografia padronizadarepresenta uma ferramenta útil em pacientes portadores da doença na fase crônica (convalescença, e recidiva). Fibrose sub-retiniana, uma visão ameaçadora e complicação na convalescença e recorrentes nas fases da Síndrome de Vogt-Koyanagi- Harada, podem ser diagnosticados com ecografia ocular, com imagens características. O conhecimento dessas imagens pode ser útil em casos com material opaco e segmento anterior bilateral da doença inflamatória granulomatosa. .