Chemokine tear levels in primary Sjögren's syndrome and their relationship with symptoms.

PURPOSE: To evaluate CCL2, CXCL8, and CXCL10 in the tears of patients with Primary Sjögren's syndrome (PSS) and correlate them with ocular symptoms/discomfort and objective ocular tests. METHODS: We studied 21 patients with PSS. A single ophthalmologist, expert in dry eye, examined the patients and assessed tear film breakup time, Schirmer I test, tear meniscus height, Van Bijsterveld staining score and SICCA Ocular Staining Score. We also assessed the ESSPRI and ocular dryness VAS and the Ocular Surface Disease Index (OSDI), a 12-item scale assessing symptoms associated with dry eye disease and their impact on vision (ocular symptoms/discomfort). Tear samples collected with sterile tear flow strips were frozen at -86 °C until testing. After thawing, tears were extracted from the strips. We tested CCL2, CXCL8, and CXCL10 by luminometry. We also included 21 healthy control subjects without a dry eye. RESULTS: CXCL8 levels were similar in patients and controls. PSS patients had lower levels of CXCL10 (472.8 vs. 1652 pg/µL, p = 0.009) and CCL2 (1.08 vs. 9 pg/µL, p = 0.0001) than controls. Patients with worse ocular sicca symptoms/discomfort had the lowest CXCL10 levels (239.3 vs. 646.2 pg/µL, p = 0.02). CCL2 correlated with tear meniscus height (τ = 0.37, p = 0.02) and with OSS (τ = -0.3, p = 0.05). CONCLUSIONS: We found lower levels of CXCL10 and CCL2 in the tears of patients with PSS, associating the former with worse ocular symptoms and the latter with positive ocular target tests.

Omega-3 and omega-6 fatty acids in primary Sjögren's syndrome: clinical meaning and association with inflammation.

OBJECTIVES: Lipid mediators derived from polyunsaturated fatty acids (FA), have been related to inflammation and immune response regulation. Herein we evaluated the intake and serum levels of ω-3 and ω-6 FA among patients with primary Sjögren's syndrome (pSS), and correlated with ocular/oral sicca symptoms, disease activity and a panel of chemokines/cytokines. METHODS: We included 108 patients and 100 controls. Dietary information was obtained from a food questionnaire of one-day reminder and processed using a nutritional software. Among the SS group, we measured serum ω-3 (α-linolenic acid [α-LN], eicosapentaenoic acid [EPA], docosahexaenoic acid [DHA]) and ω-6 (linoleic acid [LA], arachidonic acid [AA]) by gas chromatography flame ionization. We scored the ESSDAI, ESPRI, Schirmer-I test and NSWSF. In a subsample, we assessed the OSDI, ophthalmologic staining scores and measured CXCL8, CXCL10, CCL2, IL-22 and IL-21 in saliva, and CXCL8, CXCL10, CCL2 and CXCL9 in tears by Luminometry. RESULTS: ω-3 and ω-6 intake was lower in SS patients than controls, and did not correlate with serum levels. We found a negative correlation between α-LN and the OSDI and ESSDAI, as well as DHA and ESSDAI. In tears, AA positively correlated with CXCL9, whereas in saliva, α-LN, DHA and the ω3 sum negatively correlated with CCL2. We observed a negative correlation between the ω6 sum and IL-21. CONCLUSIONS: pSS patients had deficient omega intake. Lower ocular symptoms, ESSDAI scores and salivary CCL2 correlated with higher ω-3 levels, possible suggesting a role in chronic inflammation. Further studies are warranted to deepen in the knowledge of this association.

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides. In this paper, we report two unrelated families with MITF mutations. The first family showed an autosomal dominant pattern and variable expressivity. The second patient was isolated. MITF gene analysis in the first family demonstrated a c.648A>C heterozygous mutation in exon 8 c.648A>C; p. (R216S), while in the isolated patient, an apparently de novo heterozygous c.1183_1184insG truncating mutation was demonstrated in exon 10. All patients except one had bilateral reduced ocular anteroposterior axial length and a high hyperopic refractive error corresponding to posterior microphthalmos, features that have not been described as part of the disease. Our results suggest that posterior microphthalmos might be part of the clinical characteristics of Tietz/Waardenburg syndrome type 2A and expand both the clinical and molecular spectrum of the disease. © 2016 Wiley Periodicals, Inc.

Melanoma uveal de cuerpo ciliar / Uveal melanoma of ciliary body

RESUMEN El objetivo de este reporte de caso fue identificar las características de un nevo abultado conjuntival en una paciente femenina de 72 años de edad. Se muestran las pruebas complementarias realizadas para llegar al diagnóstico de melanoma conjuntival, que consiste en un tumor poco frecuente, el cual constituye el 2 por ciento de todos los tumores del ojo. Las células involucradas son los melanocitos del epitelio conjuntival. Un factor de riesgo para esta entidad puede ser la exposición a la luz ultravioleta; sin embargo, esto no está bien determinado. La mayoría de los casos se originan de una melanosis adquirida primaria (50-70 por ciento). La presentación más común es una lesión pigmentada, unilateral, elevada, gruesa, con vasos sanguíneos y áreas de melanosis a su alrededor. Su diagnóstico se realiza con la sospecha clínica que se confirma con el estudio histopatológico. El tratamiento en la actualidad es la excisión local, seguida de crioterapia, radioterapia o quimioterapia. La enfermedad matastásica ocurre en el 11 - 42 por ciento y en el 20 - 52 por ciento de los pacientes en un seguimiento de 5 y 10 años, respectivamente(AU)

ABSTRACT The objective of this case report is to describe the characteristics of a conjunctival bulging nevus in a 72-year-old female patient and the complementary tests that were performed to reach the diagnosis of conjunctival melanoma. Conjunctival melanoma is a rare tumor, which account for 2 percent of all eye tumors. The cells involved are the melanocytes of the conjunctival epithelium. A risk factor for this entity may be exposure to ultraviolet light. However, it has not been precisely described. Most cases originate from a primary acquired melanosis (50-70 percent). The most common presentation is a pigmented, unilateral, elevated, thick, lesion with blood vessels and areas of melanosis around it. Its diagnosis is made with the clinical suspicion confirmed with the histopathological study. Current treatment is local excision, followed by cryotherapy, radiotherapy, or chemotherapy. Metastatic disease occurs in 11-42 percent and 20-52 percent of patients in a 5-year and 10-year follow-up, respectively(AU)

Factores asociados con un mayor riesgo de retinopatía del prematuro en recién nacidos prematuros atendidos en un hospital de tercer nivel / Risk factors associated with retinopathy of prematurity in preterm infants treated at a tertiary level hospital

Introducción. La retinopatía del prematuro se define como una vitreorretinopatía proliferativa periférica en que la inmadurez -determinada por la edad gestacional y el peso al nacimiento- y el oxígeno son factores determinantes. El objetivo de este trabajo fue analizar el riesgo relativo para el desarrollo de la retinopatía del prematuro con respecto a la edad gestacional y el peso al nacimiento en prematuros. Métodos. Se realizó un estudio retrospectivo, análitico, transversal y unicéntrico en recién nacidos prematuros con una edad gestacional menor de 37 semanas y un peso al nacimiento menor de 2,000 g. Se realizó la exploración del fondo de ojo con oftalmoscopia binocular indirecta en diferentes tiempos de acuerdo con la edad gestacional. Las lesiones se registran siguiendo la clasificación internacional. Resultados. Se incluyeron dos grupos: uno de individuos sanos (grupo I) y otro de individuos con retinopatía del prematuro (grupo II). Se estudiaron 217 individuos sanos (91 femeninos y 126 masculinos) con una edad gestacional promedio de 30.95 ± 2.07 semanas y peso de 1,291.98 ± 255.93 g (620-2035 g). En el grupo II se estudiaron 127 pacientes (65 femeninos y 62 masculinos) con una edad gestacional promedio de 29.37 ± 1.77 semanas y peso de 1,089.31 ± 194.74 g (630-1650g). Predominó la retinopatía estadio 1 (70.1%), seguida de la retinopatía de estadio 2 (21.3%) y estadio 3 (7.1%). El 9.4% presentó retinopatía preumbral tipo 1 y el 4.7%, umbral. El grupo de 28-29 semanas presentó 2.37 veces más riesgo de desarrollar retinopatía del prematuro. Resultó el grupo con mayor incidencia (64.13%); a partir de las 30-31 semanas, el riesgo comenzó a disminuir. Conclusiones. Los recién nacidos prematuros con edad gestacional entre las 28 y 29 semanas tienen un riesgo mayor para desarrollar retinopatía del prematuro.

Background. Retinopathy of prematurity (ROP) is defined as a peripheral proliferative vitreoretinopathy in which immaturity (determined by gestational age and birth weight) and oxygen are more decisive factors. We undertook this study to analyze the relative risk for development of ROP in relation to gestational age and birth weight in infants. Methods. We carried out a retrospective, analytical, cross-sectional, single center trial in preterm infants with a gestational age <37 weeks and a birth weight <2,000 g. We performed fundus examination with binocular indirect ophthalmoscopy at different times according to gestational age. Injuries are accounted for using the international classification. Results. We included two groups: I) healthy individuals and II) those with retinopathy of prematurity. Group I included 217 healthy subjects, 91 females and 126 males, with a mean gestational age of 30.95 ± 2.7 weeks and a weight of 1291.98 ± 255.93 g (range: 620-2035). Group II was comprised of 127 patients, 65 females and 62 males with a mean gestational age of 29.37 ± 1.77 weeks (range: 26-34) and a weight of 1089.31 ± 194.74 g (range: 630-1650). Stage 1 retinopathy predominated (70.1%), followed by stage 2 (21.3%) and stage 3 (7.1%); 9.4% presented a type 1 prethreshold retinopathy and 4.7% threshold. The group of 28-29 weeks showed a factor of 2.37 times more risk of developing ROP and was the group with the highest incidence with 64.13% at 30-31 weeks after which the risk begins to decrease. Conclusions. Preterm infants with gestational age between 28 and 29 weeks are at increased risk for developing ROP.