RESUMEN
Microphthalmia is a developmental eye defect that is highly variable in severity and in its potential for systemic association. Despite the discovery of many disease genes in microphthalmia, at least 50% of patients remain undiagnosed genetically. Here, we describe a cohort of 147 patients (93 families) from our highly consanguineous population with various forms of microphthalmia (including the distinct entity of posterior microphthalmos) that were investigated using a next-generation sequencing multi-gene panel (i-panel) as well as whole exome sequencing and molecular karyotyping. A potentially causal mutation was identified in the majority of the cohort with microphthalmia (61%) and posterior microphthalmos (82%). The identified mutations (55 point mutations, 15 of which are novel) spanned 24 known disease genes, some of which have not or only very rarely been linked to microphthalmia (PAX6, SLC18A2, DSC3 and CNKSR1). Our study has also identified interesting candidate variants in 2 genes that have not been linked to human diseases (MYO10 and ZNF219), which we present here as novel candidates for microphthalmia. In addition to revealing novel phenotypic aspects of microphthalmia, this study expands its allelic and locus heterogeneity and highlights the need for expanded testing of patients with this condition.
Asunto(s)
Microftalmía/genética , Familia , Humanos , Microftalmía/diagnóstico por imagen , Mutación Puntual/genéticaAsunto(s)
Proteínas Mitocondriales/genética , Mutación , Atrofia Óptica/genética , Proteínas de Transporte de Fosfato/genética , Adulto , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Proteínas Mitocondriales/metabolismo , Modelos Moleculares , Atrofia Óptica/metabolismo , Linaje , Proteínas de Transporte de Fosfato/metabolismo , Conformación ProteicaRESUMEN
In September 2015, a confirmed case of Middle East respiratory syndrome (MERS) was diagnosed in a healthcare worker in Jeddah, Saudi Arabia. Given the absence of confirmed MERS cases in Jeddah at the time, an epidemiological index case investigation took place. The investigation identified a probable source of an index case who had been in hospital in Jordan in August 2015 while there was an ongoing MERS outbreak and who then subsequently sought medical care in Jeddah.
Asunto(s)
Infecciones por Coronavirus/diagnóstico , Personal de Salud , Transmisión de Enfermedad Infecciosa de Paciente a Profesional , Coronavirus del Síndrome Respiratorio de Oriente Medio/aislamiento & purificación , Adulto , Anciano , Femenino , Humanos , Arabia SauditaRESUMEN
Twenty-six patients with cervical spondylosis and radiculomyelopathy were treated surgically. Eight patients had cervical laminectomy C1--C7, and 16 patients had complete cervical laminectomy C1--C7 with excision of the posterior rim of the foramen magnum. Follow-up of patients was from two months to eight years. The majority of patients improved markedly, and some of them had excellent results.