RESUMEN
OBJECTIVES: There are few data on adults living with tuberous sclerosis complex (TSC), with most studies focusing on pediatric populations. The objective of our study was to examine a large national cohort of adults with TSC, and to describe the clinical characteristics of these adults and the nature of the multidisciplinary care that they receive. METHODS: Six Canadian medical centers collaborated in this study. Data were collected using a standardized form, and descriptive statistics were used for the analyses. RESULTS: Our study included 181 adults with definite TSC (mean age = 33.6 years [SD = 13.7]). More than 40% (n = 75) had family members affected by TSC. Forty-six percent (n = 83) of individuals had intellectual disability. Nearly 30% (n = 52) of individuals reported living alone or with a partner/spouse. Seventy-six percent (n = 138) of people had epilepsy, 43% (n = 59) of whom had drug-resistant epilepsy, and 21% (n = 29) had undergone epilepsy surgery. Neuropsychiatric disease (n = 128) and renal angiomyolipomas (n = 130) were both present in approximately 70% of people. Renal imaging was performed in 75.7% (n = 137) of participants within the past 3 years. Renal and pulmonary function tests, as well as electrocardiograms, were recently performed in a minority of individuals. SIGNIFICANCE: Our cohort of adults with TSC showed that an important proportion have a milder phenotype, and are more frequently familial, as compared to children with TSC (and differing from prior reports in adult cohorts). Drug-resistant epilepsy, neuropsychiatric comorbidities, and renal angiomyolipoma are challenging factors in adults with TSC. Our participating medical centers generally followed recommended screening strategies, but there remain important gaps in care. Multidisciplinary and structured TSC care centers offering service to adults may help to improve the health of this important patient population.
Asunto(s)
Angiomiolipoma , Epilepsia Refractaria , Epilepsia , Hamartoma , Neoplasias Renales , Esclerosis Tuberosa , Angiomiolipoma/epidemiología , Canadá/epidemiología , Epilepsia/diagnóstico , Femenino , Humanos , Masculino , Esclerosis Tuberosa/diagnósticoRESUMEN
PRCIS: Gonioscopy-assisted transluminal trabeculotomy (GATT) may be an effective first-line surgery for decreasing intraocular pressure (IOP) and medication burden in patients with uveitis-related ocular hypertension (OHT) or glaucoma. OBJECTIVE: The purpose of the study is to determine the efficacy of GATT in lowering IOP in uveitis-related OHT or glaucoma. METHODS: Retrospective case series that included patients with uveitis-related OHT or glaucoma who underwent GATT with or without concomitant cataract extraction and intraocular lens implantation at 2 Canadian academic centres from July 2018 to May 2022. Primary outcomes were: complete (no medications) and qualified success (with medication), and failure defined as (1) IOP >21 mm Hg with maximal medical therapy, (2) the need for additional glaucoma procedure, (3) loss of light perception secondary to glaucoma, and (4) IOP <6 mm Hg for 3 months. RESULTS: Twenty-one eyes from 18 patients were included with a mean preoperative IOP of 26.2 ± 7.3 mm Hg on 4.3 ± 0.7 classes of glaucoma drops. The average follow-up was 29.2 ± 17.6 months and 76% of eyes (n = 16) had reached at least 12 months of follow-up. At the 12-month follow-up visit, there was a significant decrease in average IOP by 9.9 ± 7.9 mm Hg (38%, P = 0.005) and a decrease of 1.9 in glaucoma medication classes ( P = 0.002). Of eyes, 14% achieved complete success, whereas 80% of eyes achieved qualified success. Six eyes failed (29%) and 5 patients (24%) required additional glaucoma surgery. The most common postoperative complication was hyphema (n = 9; 43%). CONCLUSION: This small case series suggests that GATT may be an effective first-line surgery for decreasing IOP and medication burden in patients with uveitis-related OHT or glaucoma. Further studies with longer follow-ups should be conducted to assess its long-term outcomes.
Asunto(s)
Gonioscopía , Presión Intraocular , Hipertensión Ocular , Trabeculectomía , Uveítis , Humanos , Trabeculectomía/métodos , Presión Intraocular/fisiología , Estudios Retrospectivos , Femenino , Masculino , Persona de Mediana Edad , Hipertensión Ocular/cirugía , Hipertensión Ocular/etiología , Hipertensión Ocular/fisiopatología , Uveítis/complicaciones , Uveítis/cirugía , Anciano , Adulto , Tonometría Ocular , Agudeza Visual/fisiología , Glaucoma/cirugía , Glaucoma/fisiopatología , Glaucoma/complicaciones , Resultado del Tratamiento , Estudios de SeguimientoRESUMEN
OBJECTIVE: Pterygium and ocular surface squamous neoplasia (OSSN) have been recognized as likely related conditions and share similar risk factors such as ultraviolet radiation and chronic inflammation. The purpose of this study is to review the incidence of OSSN in pathology specimens sent as pterygium at a single tertiary centre between 2010 and 2022. METHODS: This is a retrospective chart review of patients operated on for pterygium between 2010 and 2022 at the University of Montreal Health Centre. Data collected include baseline demographics, results of pathology specimen, and clinical information for cases diagnosed as OSSN on pathology. RESULTS: A total of 1559 patients were operated on for a clinical diagnosis of pterygium between 2010 and 2022, of which 854 patients (55%) were male. A total of 1142 specimens had available pathology reports, and most of the specimens were consistent with pterygium on pathology (1105 of 1142; 97%). There was an unexpected finding of 3 cases of OSSN (3 of 1142; 0.3%). Other diagnosis besides pterygium were seen in 3% of specimens (34 of 1142), including nevus (nâ¯=â¯12), spheroidal degeneration (nâ¯=â¯3), pyogenic granuloma (nâ¯=â¯3), and lymphangiectasia (nâ¯=â¯2). The 3 cases of OSSN included an 81-year-old male of French-Canadian background, a 52-year-old male of South Asian background, and a 59-year-old female of French-Canadian background. The pathology was diagnosed as conjunctival intraepithelial neoplasia (CIN) grade 3, CIN grade 2, and CIN grade 2, respectively. CONCLUSION: The finding of OSSN in pterygium is rare in our population but can be clinically difficult to distinguish. It is important to send all pterygium specimens for pathology.
Asunto(s)
Carcinoma de Células Escamosas , Conjuntiva/anomalías , Neoplasias de la Conjuntiva , Neoplasias del Ojo , Pterigion , Femenino , Humanos , Masculino , Persona de Mediana Edad , Anciano de 80 o más Años , Pterigion/diagnóstico , Pterigion/epidemiología , Estudios Retrospectivos , Incidencia , Rayos Ultravioleta , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/epidemiología , Carcinoma de Células Escamosas/patología , Canadá , Neoplasias de la Conjuntiva/diagnóstico , Neoplasias de la Conjuntiva/epidemiología , Neoplasias de la Conjuntiva/patología , Neoplasias del Ojo/cirugíaRESUMEN
OBJECTIVE: To evaluate visual outcomes and intraocular lens (IOL) rotational stability of patients undergoing immediate sequential bilateral cataract surgery with a non-diffractive extended-depth-of-focus toric IOL. DESIGN: Non-comparative single-centre cohort study. PARTICIPANTS: Twenty patients (40 eyes) with significant cataracts and corneal astigmatism who underwent immediate sequential bilateral cataract surgery with the AcrySof IQ Vivity Extended Vision Lens (Alcon Laboratories Inc, Fort Worth, Tex.). METHODS: Binocular uncorrected visual acuities (UCVA) and monocular best-corrected visual acuities (BCVA) were assessed at distance (6 m), intermediate (66 cm), and near (40 cm) postoperatively at 1 week and 3 months. The rotational stability of each IOL was assessed at 1 day, 1 week, and 3 months postoperatively. A validated questionnaire (Questionnaire for Visual Disturbances [QUVID]) was used for patient-reported subjective visual disturbances preoperatively at a 3-month follow-up. RESULTS: Binocular distance, intermediate, and near UCVAs (mean ± SD) were 0.00 ± 0.16, 0.09 ± 0.08, and 0.14 ± 0.11 logMAR at 1 week and 0.01 ± 0.06, 0.08 ± 0.08, and 0.14 ± 0.07 logMAR at 3 months postoperatively, respectively. Distance monocular BCVA improved from 0.22 ± 0.23 logMAR preoperatively to 0.02 ± 0.06 logMAR at 3 months. Monocular BCVAs at 3 months were 0.08 ± 0.08 logMAR at intermediate distance and 0.05 ± 0.08 logMAR at near distance. IOL rotation from the intended placement axis was 2.5 ± 1.7 degrees at 1 week and 1.7 ± 1.7 degrees at 3 months postoperatively. CONCLUSIONS: The AcrySof IQ Vivity Extended Vision IOL achieved good UCVAs and BCVAs for distance, intermediate, and near vision. This IOL also provided excellent rotational stability for astigmatism correction.
RESUMEN
OBJECTIVE: Our study describes adults in Canada between 2009 and 2013 receiving at least one antiseizure medication (ASM) at the end of a hospitalization for newly-diagnosed epilepsy, with a focus on the type of ASM prescribed, changes in drug prescriptions after one year, and how this differs between younger and older adults. METHODS: Canada-wide data from the Discharge Abstract Database and the National Prescription Drug Utilization Information System database from 2009 to 2013 were used to identify individuals hospitalized with newly-diagnosed epilepsy and prescribed an ASM at the end of this hospitalization. We classified ASMs into enzyme inducing (EIASM) and non-enzyme inducing (non-EIASM). Confidence intervals and p-values were generated using an exact binomial distribution. RESULTS: Our study sample included 10,568 adults. 61.3% (95% CI: 60.3, 62.2) of all prescriptions were for EIASMs. Among EIASMs, phenytoin was the most frequently prescribed drug in both younger (aged 18-59 years) and older subjects. Among older adults prescribed EIASMs, 53.1% (95% CI: 51.5, 54.7) were men; and for non-EIASMs, 45.2% (95% CI: 43.0%, 47.4) were men. Among the 3847 older adults initially prescribed EIASMs, 7.1% (95% CI: 6.4, 8.0) switched to non-EIASMs at one year following their hospital discharge. CONCLUSION: Non-EIASM have been available to clinicians since the 1990's but suboptimal ASMs such as phenytoin remained frequently prescribed during the period of this study. This is an especially pressing issue among older adults due to the greater risk of drug intolerability, related to metabolic changes that occur with greater age, increasing comorbidity burden, and frailty. Men were disproportionately prescribed EIASM, as compared to women who were more often prescribed non-EIASM.
Asunto(s)
Epilepsia , Fenitoína , Anciano , Anticonvulsivantes/uso terapéutico , Comorbilidad , Demografía , Prescripciones de Medicamentos , Epilepsia/tratamiento farmacológico , Epilepsia/epidemiología , Femenino , Humanos , Masculino , Fenitoína/uso terapéuticoRESUMEN
Acquired isolated oculomotor nerve palsy (ONP) is a commonly encountered clinical entity in ophthalmology. While most cases are due to microvascular ischemia, the diagnosis of ONP requires careful evaluation for alternate life-threatening etiologies. We present a case of isolated complete pupil-involving ONP in a healthy 47-year-old man in whom aneurysmal compression was initially suspected. Investigations later revealed a diagnosis of neurosyphilis. Neurosyphilis is an extremely rare cause of isolated ONP and seldom reported in the literature. Timely recognition of this disease by ophthalmologists can help orient patients to the appropriate neurology and infectious disease services they need.
RESUMEN
Telemedicine-based remote digital fundus imaging (RDFI-TM) offers a promising platform for the screening of retinopathy of prematurity. RDFI-TM addresses some of the challenges faced by ophthalmologists in examining this vulnerable population in both low- and high-income countries. In this review, we studied the evidence on the use of RDFI-TM and analyzed the practical framework for RDFI-TM systems. We assessed the novel technological advances that can be deployed within RDFI-TM systems including noncontact imaging systems, smartphone-based imaging tools, and deep learning algorithms.