RESUMO
PURPOSE: The purpose of this paper is to describe the frequency and characteristics of uveitis associated with juvenile idiopathic arthritis at a tertiary referral centre in Spain. METHODS: Review of clinical records. 205 children diagnosed with chronic juvenile arthritis over the last 15 years, of whom 26 presented anterior uveitis. Patients were classified according to their pattern of evolution, the time the uveitis was diagnosed with respect to the onset of arthritis, and the severity of uveitis at diagnosis. RESULTS: The prevalence of uveitis was 12.7%. Of the patients affected with uveitis 71% were girls. The average age at which the arthritis was diagnosed was significantly earlier in the group of patients who developed uveitis (4.06 years). No differences were observed in the incidence of uveitis in girls and boys, nor in pauci/polyarticular affectation. ANA positivity was found in 84.6% of the uveitis-affected patients, this being significantly different to the ANA- group. The average age at which uveitis was diagnosed is 5.87 years. 48.1% of uveitis patients develop uveitis within 12 months of the onset of arthritis. This group presented more complications during the evolution of the condition. A total of 84.7% of the uveitis-affected patients presented with a final visual acuity of >0.5 during the observation period. CONCLUSIONS: In our study, the development of uveitis was significantly associated with an earlier age of diagnosis of the arthritis and with the presence of ANA positivity. No differences were observed between boys and girls, or between pauci and polyarticular groups. A greater prevalence of complications was observed in cases presenting with a shorter time interval between the diagnosis of arthritis and uveitis and in those that presented with complications on diagnosis.
Assuntos
Artrite Juvenil , Uveíte , Fatores Etários , Artrite Juvenil/complicações , Artrite Juvenil/diagnóstico , Artrite Juvenil/epidemiologia , Catarata/diagnóstico , Criança , Pré-Escolar , Interpretação Estatística de Dados , Feminino , Glaucoma/diagnóstico , Humanos , Masculino , Prevalência , Fatores Sexuais , Espanha/epidemiologia , Fatores de Tempo , Uveíte/complicações , Uveíte/diagnóstico , Uveíte/epidemiologia , Acuidade VisualRESUMO
CASE REPORT: A six-year-old boy presented with proptosis of the right eye. Imaging studies detected a mass in the medial wall of the right orbit. This mass was biopsied revealing a histopathologic diagnosis of primitive neuroectodermal tumor, so chemotherapy treatment was given. After seven years in remission he presented with a recurrence of the orbital tumor and was found to also have systemic metastases. Treatment with chemotherapy, radiotherapy and orbital exenteration was unsuccessful. DISCUSSION: The orbital occurrence of these tumors is extremely rare. Differentiation from other small round cell tumors requires immunohistochemical and ultrastructural techniques.
Assuntos
Recidiva Local de Neoplasia/diagnóstico , Tumores Neuroectodérmicos Primitivos Periféricos/diagnóstico , Tumores Neuroectodérmicos Primitivos Periféricos/secundário , Neoplasias Orbitárias/diagnóstico , Neoplasias Orbitárias/patologia , Criança , Humanos , MasculinoRESUMO
CASE REPORT: A patient with a left optic nerve coloboma with late development (at 15 years of age) of vitreoretinal fibrovascular proliferation and tractional retinal detachment (TRD). Sectorial retinal photocoagulation was performed with regression of the proliferative tissue and exudation. DISCUSSION: Congenital optic nerve anomalies may be associated with significant retinal avascularity, ischaemia and late fibrovascular proliferation. Laser is effective for regression of the neovascular tissue and preventing TRD progression.
Assuntos
Coloboma , Nervo Óptico , Descolamento Retiniano , Doenças Retinianas , Adolescente , Humanos , FotocoagulaçãoRESUMO
Mutation analysis of retinoblastoma is considered important for genetic counseling purposes, as well as for understanding the molecular mechanisms leading to tumors with different degrees of penetrance or expressivity. In the course of an analysis of 43 hereditary retinoblastoma Spanish patients and kindred, using direct PCR sequencing, we have observed 29 mutations; most of them (62%) have not been reported previously. Of the mutations, 69% correspond to nonsense mutations (mainly CpG transitions) and frameshifts, with the expected outcome of a truncated Rb protein that lacks the functional pocket domains and tail. The remainder corresponds to splicing mutations, most of them (62%) targeted to invariant nucleotides, with the predicted consequence of out of frame exon skipping. Two of the splicing mutations in our study were found associated to families with a low-penetrance phenotype. Additionally, most of the mutations affecting splice junctions corresponded to retinoblastoma cases of either sporadic or hereditary nature with delayed onset (32 months on average). In contrast, most of the nonsense and frameshift mutations are associated with an early age at diagnosis (8.7 months on average). These differences are discussed in the context of the relationships between genotype and low expressivity phenotype. The differences in the spectrum of RB1 mutations found in this and other European surveys are also discussed in the context of alternate DNA methylation and mismatch repair phenotypes.
Assuntos
Mutação em Linhagem Germinativa/genética , Retinoblastoma/genética , Retinoblastoma/fisiopatologia , Idade de Início , Processamento Alternativo/genética , Sequência de Bases , Pré-Escolar , Códon sem Sentido/genética , Metilação de DNA , Análise Mutacional de DNA , Reparo do DNA , Éxons/genética , Feminino , Mutação da Fase de Leitura/genética , Testes Genéticos , Genótipo , Humanos , Lactente , Íntrons/genética , Masculino , Dados de Sequência Molecular , Linhagem , Fenótipo , Regiões Promotoras Genéticas/genética , Sítios de Splice de RNA/genética , RNA Mensageiro/análise , RNA Mensageiro/genética , Retinoblastoma/química , Retinoblastoma/epidemiologia , EspanhaRESUMO
Linkage analysis at the retinoblastoma locus (RB1) is essential for identifying individuals at risk and to offer adequate genetic counseling in familial retinoblastoma. It can also be used to detect large deletions involving RB1, which accounts for 15% of the genetic alterations in hereditary retinoblastoma. These studies are usually carried out with lengthy Southern blot analyses of relatively uninformative restriction fragment length polymorphisms. The authors report an alternative, reliable protocol for genotyping the RB1 locus using two pairs of highly informative intragenic and flanking microsatellites linked closely to the RB1 gene, and analysis of the fluorescent-labeled polymerase chain reaction products with automatic sizing technology. This methodology has successfully identified high risk carriers in five of the five pedigrees of familial retinoblastoma studied. In addition, gross deletions affecting the RB1 gene were identified in two of 12 sporadic bilateral retinoblastomas, and loss of heterozygosity at the RB1 locus has been detected in one of three osteosarcomas using the same experimental protocol. The described protocol is simpler and faster than conventional Southern blot methodologies and can identify a larger number of informative cases.
Assuntos
Neoplasias Ósseas/genética , Deleção de Genes , Ligação Genética , Repetições de Microssatélites , Osteossarcoma/genética , Proteína do Retinoblastoma/genética , Retinoblastoma/genética , Primers do DNA/química , DNA de Neoplasias/análise , Feminino , Fluorescência , Doenças Genéticas Inatas , Marcadores Genéticos , Humanos , Masculino , Linhagem , Reação em Cadeia da PolimeraseAssuntos
Polimorfismo de Nucleotídeo Único/genética , Proteína do Retinoblastoma/genética , Retinoblastoma/genética , Análise Mutacional de DNA , Éxons , Frequência do Gene , Humanos , Íntrons , Dados de Sequência Molecular , Mutação de Sentido Incorreto/genética , Fases de Leitura Aberta/genética , Espanha , População Branca/genéticaRESUMO
A complete loss of palpebral tissue can occur following a congenital malformation, tumour resection or traumatic injury. This article presents the authors' clinical experience with upper eyelid reconstruction in children using the Guyuron retroauricular island flap. Five cases of severe eyelid defects in children aged between 5 days and 10 years of age (three patients following enucleation and two presenting upper eyelid coloboma of approximately two-thirds of the upper eyelid surface) were treated using this technique. In all cases an optimal closure of the eyelid fissure was achieved and corneal exposure clinically improved. On average, 15% of the initial flap surface was lost. Only one major complication (40% flap necrosis) was reported in the postoperative period. This reconstructive technique can provide complete eyelid reconstruction leaving an inconspicuous scar and causing limited morbidity at the donor zone.
Assuntos
Blefaroplastia/métodos , Retalhos Cirúrgicos , Criança , Pré-Escolar , Coloboma/cirurgia , Enucleação Ocular , Pálpebras/cirurgia , Humanos , Recém-Nascido , Órbita/cirurgia , Estudos Retrospectivos , Couro Cabeludo/cirurgiaRESUMO
Ultrasonography (US) is a rapid, accurate, noninvasive method of evaluating ocular and orbital disease. A wide spectrum of pediatric ocular and orbital disorders can be demonstrated with US: ocular congenital malformations, vitreoretinal disorders, primary and metastatic ocular and orbital neoplasms, inflammatory and congestive disease (focal or systemic), cystic disease, trauma, and foreign bodies. US may be the method of choice for studying ocular congenital anomalies and vitreoretinal disorders owing to its high definition and noninvasiveness. In ocular neoplasms, US demonstrates the morphology of the lesion, its solid or liquid nature, and the presence of calcifications. Its use is limited when the tumor extends outside the globe; computed tomography (CT) or magnetic resonance (MR) imaging must then be performed. In ocular trauma, US precisely demonstrates the presence of hemorrhage, retinal and choroidal detachment, and foreign bodies. CT and MR imaging are superior in evaluation of orbital disease. Color Doppler US often allows differential diagnosis of vascular, inflammatory, and neoplastic disease.