RESUMO
Fundal abnormalities, including preretinal and retinal changes, are a rare finding in patients with the autosomal recessive lysosomal storage disorder Gaucher disease, most often described in patients with the chronic neuronopathic form (type 3). We evaluated whether these ophthalmological findings correlated with other manifestations of type 3 Gaucher disease. Reviewing the records of 40 patients with type 3 Gaucher disease, we identified five with white vitreous opacities and reviewed their clinical course in depth. Each of the patients described decreased visual acuity and "floaters" obstructing their vision. The development and/or progression of these fluffy-appearing white opacities in each patient were tracked longitudinally in the context of their neurological and other clinical findings. It was noted that all five patients shared genotype p.L483P/p.L483P (L444P/L444P) and had significant neurological, oculomotor and bone involvement and two had undergone splenectomy. Enzyme replacement therapy with recombinant glucocerebrosidase did not prevent the development or progression of these ocular opacities. Since preretinal findings, in addition to other neuro-ophthalmological findings, can be a feature of Gaucher disease, it is recommended that patients be monitored by regular eye examinations.
Assuntos
Doença de Gaucher/patologia , Glucosilceramidase/genética , Adolescente , Adulto , Criança , Pré-Escolar , Terapia de Reposição de Enzimas , Feminino , Doença de Gaucher/enzimologia , Doença de Gaucher/genética , Doença de Gaucher/terapia , Humanos , Lactente , Masculino , Prognóstico , Adulto JovemRESUMO
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase. Patients with Gaucher disease generally have a variety of clinical manifestations ranging from visceral to neurological involvement and some develop ocular involvement. The most commonly affected organs include the spleen, liver, and bone. Moreover, patients often have hepatosplenomegaly, thrombocytopenia, anemia, and bone involvement related to deficient glucocerebrosidase and the subsequent accumulation of glucosylceramide and glucosylsphingosine in cells. A subset of patients develops neurological manifestations, including seizures, myoclonic epilepsy, and progressive neurodegeneration. Eye involvement tends to be less common and presents with diverse clinical findings. These rare and variable ocular manifestations, involving the vitreous, retina, cornea, uvea, conjunctiva and eye movements, can pose a diagnostic challenge for clinicians, especially those not familiar with the disorder. In this review, we explore the different ophthalmologic findings reported in patients with Gaucher disease, aiming to facilitate diagnosis and expedite treatment for patients presenting with ocular manifestations of this rare disorder.
Assuntos
Oftalmopatias/etiologia , Olho/fisiopatologia , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Opacidade da Córnea/etiologia , Movimentos Oculares , Humanos , MutaçãoRESUMO
Established criteria for reporting safety and efficacy have not yet been defined in growing rod surgery for early onset scoliosis. A systematic literature review revealed a high degree of variability in how authors stratified complications and patient outcomes as a means to define safety and efficacy for this challenging patient population. INTRODUCTION: Several publications have reported the safety and efficacy of traditional growing rods (TGR) and magnetically controlled growing rods (MCGR) using various parameters. Radiographic parameters are most commonly used to measure efficacy, while incidence and type of complications are used to assess safety. A systematic review of peer-reviewed articles was performed to identify whether a consensus exists in how safety and efficacy parameters are reported in EOS patients treated with TGR and MCGR. HYPOTHESIS: There is no consensus on the parameters used for reporting safety and efficacy in growing rod treatment for early onset scoliosis. STUDY DESIGN: Systematic literature review. METHODS: Four databases were searched on November 10, 2016 to identify all qualified peer-reviewed articles using specific keyword searches. All peer-reviewed articles published in English language reporting any data related to safety and efficacy of the TGR and/or MCGR surgical technique were included. Articles that met the inclusion criteria were scored by modified Downs and Black scoring system (J Epidemiol Community Health 52(6):377-384, 1998) for non-randomized studies. All reported safety and efficacy data were extracted and analyzed. RESULTS: Search of the databases resulted in 111 unique citations including: PubMed (50), Embase (68 with 21 duplicates), Web of Science (29 with 15 duplicates), and CINAHL (15; all duplicates). Fifty-six of 111 citations were excluded during the review of the titles and abstracts. In addition, 16 citations were excluded at the time of full manuscript review. The remaining 39 articles included 23 TGR (2007-2016) and 16 MCGR papers (2012-2016). The overall Downs and Black score was 63.9 for TGR papers vs. 64.0 for MCGR papers (p = 0.97). Efficacy measures were not consistently reported among the publications. The only consistently reported efficacy parameter in majority (> 90%) of papers was curve size. Complication reporting was highly variable. CONCLUSION: Major curve size was the only consistent parameter to report efficacy in peer-reviewed TGR and MCGR publications. Since complications were not consistently reported, assessing safety of either treatment was infeasible. Establishing standardized safety and efficacy parameters in growing rod surgery for EOS would improve the quality of future studies and makes comparison of different treatment modalities possible. Indeed, other clinically relevant parameters such as health-related quality of life, pulmonary function, nutritional status, and psychiatric and developmental health should also be considered to improve the future safety and efficacy reporting.
Assuntos
Escoliose/cirurgia , Fusão Vertebral/instrumentação , Fusão Vertebral/métodos , Fatores Etários , Idade de Início , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Segurança , Resultado do TratamentoRESUMO
STUDY DESIGN: Retrospective review of a single institution. OBJECTIVE: To determine if resting leg pain level is a predictor of success for indirect decompression in the setting of lumbar spinal stenosis, with lower levels of rest pain correlating with greater likelihood of successful indirect decompression. METHODS: Reviewed anterior or lateral lumbar interbody fusions from T12 to L5-S1 patients with a posterior-based pedicle screw-rod construct. Patients were separated into 2 groups based on a preoperative response to Oswestry Disability Index (ODI) Question 7 regarding level of pain at rest in the supine position. Responses of 0 to 2 (minimal rest pain) were group 1 (n = 54) and responses of 3 to 5 (significant rest pain) were group 2 (n = 16). RESULTS: Preoperative difference was detected between groups 1 and 2, in ODI (38 vs 63, P < .001) and Numeric Rating Scale (NRS) back (6.8 vs 7.9, P = .023). Three-month NRS leg and back scores were significantly lower in group 1 (leg, 1.9 vs 4.8, P < .001; back, 3.5 vs 6.4, P = .001). A significant difference was further noted in the percentage decrease in NRS leg and back scores from pre- to 3 months postoperatively between groups 1 and 2 (leg, 68.4% vs 22.7%, P < .001; back, 40.0% vs 7.4%, P = .012). Group 1 reached minimal clinically important difference for leg pain more often than group 2 (83.3% vs 43.8%, P = .001). CONCLUSION: Preoperative assessment of rest pain level in the supine position has a significant association with reduction in NRS leg and back scores in patients undergoing indirect decompression for lumbar spinal stenosis. This tool may successfully indicate which patients will be candidates for indirect decompression with interbody fusion from an anterior or lateral approach.
RESUMO
Established criteria for reporting safety and efficacy have not yet been defined in growing rod surgery for early-onset scoliosis. A systematic literature review revealed a high degree of variability in how authors stratified complications and patient outcomes as a means to define safety and efficacy for this challenging patient population.