Oral selenium improved the disease activity in patients with mild Graves' orbitopathy.

BACKGROUND: Graves' orbitopathy (GO) is the most common extrathyroidal manifestation of Graves' disease (GD), an autoimmune disorder arising from the activity of T lymphocytes against antigens that infiltrate thyroid tissue, orbital tissue and extraocular muscles. An increase in oxidative stress has been discovered in autoimmune thyroid disease, encouraging investigation into new forms of treatment. Selenium has been described as a treatment option given its antioxidant properties. The present study evaluates the decrease of progression and inflammatory signs in patients with mild GO with oral selenium supplementation. METHODS: Controlled, randomized, single center trial at an ophthalmology referral center in Mexico City. Patients at least 18years of age with mild GO according to the CAS classification were included; exclusion criteria in addition to corticosteroid treatment included smokers or selenium allergy. Each patient was randomized into one of two groups. Group A took placebo tablets which consisted of 100µg of starch twice a day for 6months, and group B took a 100µg selenium tablet twice a day for 6months. The patients from both groups were examined and evaluated using a CAS score before and after the first, third and sixth month of treatment. RESULTS: Thirty eyes of 30 patients were studied. The pretreatment values showed no statistically significant differences between groups (P>0.05). Intergroup analysis showed statistically significant differences in palpebral fissure and CAS score between the pretreatment values and six months after treatment in the selenium group (P<0.05). No differences were found in any variables in the placebo group during the study period (P>0.05). No adverse events were reported. CONCLUSIONS: This is the first study in a Mexican population demonstrating that oral selenium decreases clinical activity and stops progression in patients with mild GO.

[Management of upper eyelid retraction associated with dysthyroid orbitopathy during the acute inflammatory phase with botulinum toxin type A]. / Traitement de la rétraction palpébrale supérieure associée à l'ophtalmopathie dysthyroïdienne en phase active inflammatoire avec l'injection de toxine botulique A.

PURPOSE: To evaluate the efficacy of transconjunctival botulinum toxin type A (BTX-A) in the treatment of upper eyelid retraction in the active inflammatory phase of dysthyroid orbitopathy, establish the ideal dose, and evaluate side effects. METHODS: This is a comparative, prospective study in patients with thyroid orbitopathy, conducted at the Conde Ophthalmology Institute in Valenciana, Mexico. The patients included had dysthyroid orbitopathy in the inflammatory phase, and they were treated with subconjunctival injection of botulinum toxin type A (BTX-A) in the upper eyelid. Five units (group 1) and ten units (group 2) of BTX-A, in a single subconjunctival dose were applied to the non-dominant eye. We evaluated visual acuity, margin-to-reflex distance (RPM1), crease height, ocular motility, diplopia and keratitis, before and after administration of the toxin. The patients were followed at one, 4 and 16 weeks, with the Student t-test as a statistical analysis. RESULTS: At week 4, 15 patients (100%) showed a reduced margin to reflex distance. The mean result for group 1 was -1.75mm (range -1 to -2.5mm) and group 2 was -2mm (range -1 to -4mm). Statistically significant differences were seen between pre-treatment and week 4 in both groups, but no differences between doses. Complete improvement of keratitis and lagophthalmos was observed in 5 and 2 patients, respectively. Visual acuity, ocular motility and crease height did not change in 93% of the patients. One patient (group 1) exhibited complete ptosis and vertical diplopia, which resolved spontaneously at week 6. CONCLUSION: Transconjunctival BTX-A application is safe and effective for the treatment of eyelid retraction in dysthyroid orbitopathy. No difference was found between doses. No severe side effects were reported.

Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset hereditary myopathy of autosomal dominant transmission characterised by ptosis, dysphagia and limb weakness. The disease is caused by short heterozygous expansions of a (GCN)(10) triplet located in the first exon of the PABPN1 gene at chromosome 14q11.1. Most affected individuals from North America and Europe carry a mutant (GCN)(13) allele. Although evidence for a founder mutation effect has been shown in several populations with OPMD, analysis of large groups of patients from different ethnic backgrounds will help to identify the relative contribution of each allele to the disease and a possible genotype-phenotype correlation. METHODS: 22 unrelated patients with OPMD from Mexico, a previously uncharacterised population, were clinically and molecularly analysed. Detailed ophthalmological and clinical examinations were performed in each proband and molecular analysis of the PABPN1 gene was carried out by PCR amplification and allele-specific cloning/sequencing. Two single nucleotide polymorphisms (SNPs) linked to PABPN1 were determined in each individual and in a number of affected first-degree relatives. RESULTS: 15 subjects (68%) carried a mutant (GCN)(15) or (GCG)(11)(GCA)(3)(GCG) PABPN1 allele; the remaining 7 (32%) exhibited an abnormal (GCN)(13) or (GCG)(9)(GCA)(3)(GCG) allele. Analysis of two SNPs linked to PABPN1 strongly suggests that both expanded alleles originate from two independent founder effects. In addition, in this particular population the (GCN)(15) allele was associated with an earlier onset of the disease (mean 46.5 years) compared with the (GCN)(13) allele (mean 54.7 years). CONCLUSION: The results of this study suggest that OPMD in the Mexican population is mostly due to (GCG)(11) or (GCG)(9) PABPN1 expanded alleles arising from two independent founder effect mutations. These findings add to the definition of the genetic features of the disease and to the establishment of a probable genotype-phenotype correlation.

[Comparative study of amniotic membrane transplantation, with and without simultaneous application of mitomycin C in conjunctival fornix reconstruction]. / Estudio comparativo entre transplante de membrana amniótica con y sin aplicación simultánea de mitomicina c en reconstrucción de fondo de saco conjuntival.

OBJECTIVE: To describe the results of amniotic membrane (AM) transplantation, using the simultaneous application of 0.02% Mitomycin C (MMC), in conjunctival fornix reconstruction. MATERIAL: We compared two groups of patients: group A, who were treated only with AM and group B, in whom MMC (0.02%) was also applied. Operative technique used: In group A, the surgical procedure involved a careful removal of the cicatricial tissue, followed by AM transplantation. In group B, following the careful removal of the cicatricial tissue, 0.02% MMC was then applied to the surgical field for 60 seconds, and this was followed by extensive irrigation with saline solution. AM transplantation was then performed. We ultimately evaluated the depth of the conjunctival fornix and ocular motility. RESULTS: Group A: eleven eyes of eleven patients were evaluated. Seven had chemical injuries, three had traumatic symblepharon and one had Stevens-Johnson syndrome. In two cases a 7 mm or greater conjunctival fornix depth was observed. In four cases the ocular motility was better than -1. Group B: Twelve eyes of twelve patients were evaluated. Seven had chemical injuries, 2 had traumatic symblepharon and 3 had Stevens-Johnson syndrome. In nine cases a 7 mm or greater conjunctival fornix depth was obtained. In 9 cases the ocular motility restriction was resolved. Poor results of fornix reconstruction, as well as ocular motility, were observed in those patients with autoimmune diseases, irrespective of the treatment used. CONCLUSIONS: The simultaneous combination of AM and MMC results in better conjunctival fornix reconstruction than with the use of AM alone.

Estudio comparativo entre trasplante de membrana amniótica con y sin aplicación simultánea de mitomicina C en reconstrucción de fondo de saco conjuntival / Comparative study of amniotic membrane transplantation, with and without simultaneous application of mitomycin C in conjunctival fornix reconstruction

Objetivo: Describir la eficacia en la reconstrucción de fondos de saco y mejoramiento de la movilidad ocular mediante el uso del transplante de membrana amniótica (MA) y la aplicación transoperatoria de Mitomicina C (MMC) al 0,02%.Material: Se han comparado dos grupos, Grupo A al cual se le realizó liberación de simbléfaron y transplante de MA y Grupo B al que además del transplante se aplicó MMC al 0,02%. Técnica: El tejido conjuntival cicatrizal fue escindido aplicando MMC 0,02% por 1 minuto y lavado exhaustivo posterior a la aplicación. Se colocó MA cubriendo el defecto (grupo A y B). Las variables medidas fueron profundidad de saco conjuntival y movilidad ocular.Resultados: Grupo A once ojos de once pacientes. Siete con quemaduras químicas, tres con simbléfaron traumático y uno con antecedente de Síndrome de Stevens-Johnson. En dos pacientes se obtuvo una profundidad de fondo de saco de 7 mm o mayor. En cuatro pacientes encontramos una limitación a la movilidad ocular menor a –1. Grupo B: Doce ojos de doce pacientes. Siete con quemaduras químicas, dos con simbléfaron traumático y tres con antecedente de síndrome de Stevens-Johnson. En nueve casos se obtuvo profundidad de fondo de saco de 7 mm o mayor. En nueve casos la restricción a la movilidad se eliminó. Los resultados más pobres en ambos grupos se obtuvieron en aquellos con trastornos autoinmunes.Conclusiones: La combinación de MA y MMC demostró resultados más favorables en la reconstrucción de fondos de saco conjuntival que cuando se empleo únicamente MA

Objective: To describe the results of amniotic membrane (AM) transplantation, using the simultaneous application of 0.02% Mitomycin C (MMC), in conjunctival fornix reconstruction. Material: We compared two groups of patients: group A, who were treated only with AM and group B, in whom MMC (0.02%) was also applied. Operative technique used: In group A, the surgical procedure involved a careful removal of the cicatricial tissue, followed by AM transplantation. In group B, following the careful removal of the cicatricial tissue, 0.02% MMC was then applied to the surgical field for 60 seconds, and this was followed by extensive irrigation with saline solution. AM transplantation was then performed. We ultimately evaluated the depth of the conjunctival fornix and ocular motility. Results: Group A: eleven eyes of eleven patients were evaluated. Seven had chemical injuries, three had traumatic symblepharon and one had Stevens-Johnson syndrome. In two cases a 7 mm or greater conjunctival fornix depth was observed. In four cases the ocular motility was better than –1. Group B: Twelve eyes of twelve patients were evaluated. Seven had chemical injuries, 2 had traumatic symblepharon and 3 had Stevens-Johnson syndrome. In nine cases a 7 mm or greater conjunctival fornix depth was obtained. In 9 cases the ocular motility restriction was resolved. Poor results of fornix reconstruction, as well as ocular motility, were observed in those patients with autoimmune diseases, irrespective of the treatment used. Conclusions: The simultaneous combination of AM and MMC results in better conjunctival fornix reconstruction than with the use of AM alone