ABSTRACT
BACKGROUND: Singleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic calcifications and skeletal and dental dysplasia. Few families have been described and the genotypic and phenotypic spectrum is poorly defined, with variants in DDX58 (DExD/H-box helicase 58) being one of two identified causes, classified as SGMRT2. METHODS: Families underwent deep systemic phenotyping and exome sequencing. Functional characterisation with in vitro luciferase assays and in vivo interferon signature using bulk and single cell RNA sequencing was performed. RESULTS: We have identified a novel DDX58 variant c.1529A>T p.(Glu510Val) that segregates with disease in two families with SGMRT2. Patients in these families have widely variable phenotypic features and different ethnic background, with some being severely affected by systemic features and others solely with glaucoma. JOAG was present in all individuals affected with the syndrome. Furthermore, detailed evaluation of skin rash in one patient revealed sparse inflammatory infiltrates in a unique distribution. Functional analysis showed that the DDX58 variant is a dominant gain-of-function activator of interferon pathways in the absence of exogenous RNA ligands. Single cell RNA sequencing of patient lesional skin revealed a cellular activation of interferon-stimulated gene expression in keratinocytes and fibroblasts but not in neighbouring healthy skin. CONCLUSIONS: These results expand the genotypic spectrum of DDX58-associated disease, provide the first detailed description of ocular and dermatological phenotypes, expand our understanding of the molecular pathogenesis of this condition and provide a platform for testing response to therapy.
Subject(s)
Exanthema , Glaucoma, Open-Angle , Odontodysplasia , DEAD Box Protein 58/genetics , Exanthema/pathology , Glaucoma, Open-Angle/pathology , Humans , Interferons/genetics , Metacarpus/pathology , Odontodysplasia/genetics , Odontodysplasia/pathology , Receptors, ImmunologicABSTRACT
PURPOSE: To describe a case of a patient presenting with acquired acoria and iris pearls, a rare eye manifestation and pathognomonic finding for leprosy; to reinforce clinical, histopathological, and therapeutic aspects of ocular involvement in leprosy. METHODS: Case report. CASE DESCRIPTION: A 62-year-old male presenting with acquired acoria and iris pearls in both eyes due to leprosy also had anterior uveitis and cataract. Histopathological diagnosis of iris pearls was confirmed by the presence of Hansen's bacilli. Ophthalmological examination revealed improvement of the visual acuity after iridectomy and extracapsular cataract extraction. CONCLUSIONS: To our knowledge, this is the first reported case of acquired acoria in a leprosy patient. It led to impaired vision and reversible blindness. Proper diagnosis and ophthalmological treatment of patients with these conditions are essential for the maintenance of a good quality of life.
Subject(s)
Cataract , Leprosy , Humans , Iris/surgery , Male , Middle Aged , Quality of Life , Visual AcuityABSTRACT
Tests were performed for antibodies IgG, IgM and IgA anti-Toxoplasma gondii antibodies in serum and intraocular fluids (Aqueous and vitreous humor) from patients with ocular toxoplasmosis. By the results obtained, it was verified that intraocular IgG and IgA anti-Toxoplasma gondii antibodies can be important markers for the diagnosis of ocular toxoplasmosis.
Subject(s)
Antibodies, Protozoan/analysis , Aqueous Humor/immunology , Toxoplasma/immunology , Toxoplasmosis, Ocular/immunology , Vitreous Body/immunology , Adult , Animals , Aqueous Humor/parasitology , Biomarkers/analysis , Enzyme-Linked Immunosorbent Assay , Female , Fluorescent Antibody Technique, Indirect , Humans , Vitreous Body/parasitologyABSTRACT
Analisar os acidentes de trabalho entre pacientes atendidos durante o ano de 2009, no Centro Médico da Empresa Nacional de Seguros de Angola.
Subject(s)
Humans , Male , Accidents, Occupational/legislation & jurisprudence , Health Promotion , Occupational Health , Statistics on Sequelae and Disability , Angola , Risk FactorsABSTRACT
Foi realizada pesquisa de anticorpos IgG, IgM e IgA anti-Toxoplasma gondii no soro e fluidos intra-oculares (humor aquoso e vítreo) de pacientes com toxoplasmose ocular. A partir dos resultados obtidos verificou-se que anticorpos IgG e IgA intraocular anti-Toxoplasma gondii podem vir a ser importantes marcadores no diagnóstico de toxoplasmose ocular.
Subject(s)
Adult , Animals , Female , Humans , Antibodies, Protozoan/analysis , Aqueous Humor/immunology , Toxoplasma/immunology , Toxoplasmosis, Ocular/immunology , Vitreous Body/immunology , Aqueous Humor/parasitology , Biomarkers/analysis , Enzyme-Linked Immunosorbent Assay , Fluorescent Antibody Technique, Indirect , Vitreous Body/parasitologyABSTRACT
Objetivo: Avaliar as alteraçöes oculares decorrentes da cirurgia de catarata com implante de lentes intra-oculares (LIO) em pacientes portadores de mal de Hansen (MH) e compará-las às dos pacientes näo-portadores de Hanseníase. Métodos: Neste estudo, 122 olhos de 80 pacientes portadores de MH e 71 olhos de 71 pacientes näo hansenianos foram submetidos à facectomia extracapsular e/ou à facoemulsificaçäo com implante de LIO e examinados periodicamente durante o pós-operatório. Resultado:Foram constatadas alteraçöes oculares decorrentes da cirurgia e da presença da LIO mais freqüentes no grupo portador de hanseníase.Conclusäo: O uso da LIO em pacientes com hanseníase, mesmo ocorrendo algumas alteraçöes inflamatórias, é indicado devido ao benefício que propicia a esses pacientes em face das mutilaçöes decorrentes da doença.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Leprosy/diagnosis , Lenses, Intraocular , Aged, 80 and over , Cataract Extraction/methods , Phacoemulsification/methodsABSTRACT
O mal de hansen é ainda uma das doenças milenares com grande incidência em nosso país. Os dados recentes obtidos revelam 18 doentes para cada 100 mil habitantes, com uma prevalência de 1.8 para cada mil habitantes. A hanseníase é uma entidade altamente incapacitante pelas mutilaçöes que determina, nas mäos, braços, pés, pernas além das alteraçöes oculares graves decorrentes da falta de tratamento profilático. É sobre as diversas alteraçöes oculares que o autor discute nesse artigo