RESUMEN
BACKGROUND: The objectives of this study are to assess Canadian ophthalmologists' awareness of established uveitis treatment guidelines and clinical management of uveitis and to assess the frequency of government applications for immunomodulatory therapy (IMT) and identify primary prescribers. A 25-item questionnaire was sent to 759 practicing Canadian ophthalmologists. Six questions assessed demographics including the year of residency completion, training by uveitis specialists during residency, and fellowship training. Five questions assessed application of guidelines to clinical scenarios, and 12 questions assessed referral patterns and success of obtaining coverage for IMT. RESULTS: Of 144 respondents, 12 (8.3 %) were uveitis specialists; 45.1 % of respondents had uveitis training during residency by a uveitis specialist. Sixty-one percent reported awareness of management guidelines. Recent graduates (2001-2012) referred patients to uveitis specialists (55.3 %) less frequently than earlier graduates. Recent graduates also managed uveitis patients more frequently with corticosteroid injections (15.6 %) than those who graduated before 1980 (9.75 %). The majority (93.6 %) of respondents submitted less than six IMT funding applications for provincial drug coverage yearly, and 5.5 % reported prescribing IMT themselves, rather than referring to other specialists. CONCLUSIONS: Although greater than half of respondents reported awareness of uveitis treatment guidelines, Canadian ophthalmologists' awareness of uveitis treatment guidelines and application of the guidelines to patient care could be improved. Few applications are made for IMT, and the majority of applications are sent by non-ophthalmologists. This suggests the need for further education of ophthalmologist about uveitis treatment guidelines and for more ophthalmologists trained to manage uveitis with IMT.
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Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of them have their mutations identified including 26 novel changes. Comprehensive phenotyping of these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes.
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Síndrome de Bardet-Biedl/clasificación , Síndrome de Bardet-Biedl/diagnóstico , Mutación/genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Adolescente , Adulto , Síndrome de Alstrom/diagnóstico , Síndrome de Alstrom/genética , Síndrome de Alstrom/patología , Síndrome de Bardet-Biedl/genética , Niño , Preescolar , Análisis Mutacional de ADN , Etnicidad/genética , Femenino , Estudios de Asociación Genética , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/patología , Humanos , Hidrocolpos/diagnóstico , Hidrocolpos/genética , Hidrocolpos/patología , Lactante , Masculino , Persona de Mediana Edad , Polidactilia/diagnóstico , Polidactilia/genética , Polidactilia/patología , Enfermedades Uterinas/diagnóstico , Enfermedades Uterinas/genética , Enfermedades Uterinas/patologíaRESUMEN
PURPOSE: Preemptive ligation of the thoracic duct (TD) is occasionally performed during cardiothoracic procedures to prevent chylothorax. Landmarks for localizing this structure are thus important to the surgeon during such procedures. One historically used area for identifying this structure in the thorax is Poirier's triangle. The present paper aimed to investigate the relationship of the TD to Poirier's triangle. METHODS: We evaluated the use of this geometric area in localizing the TD in 35 adult cadavers. RESULTS: Poirier's triangle was found in all specimens, but the TD was found within the confines of Poirier's triangle in only 17 specimens (45.7%). When not identified in Poirier's triangle, the regional TD was often (28.6%) seen in the interval between the proximal left subclavian and left common carotid arteries. CONCLUSIONS: These data may be of use to the surgeon when identifying the proximal TD within the thorax.
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Conducto Torácico/anatomía & histología , Tórax/anatomía & histología , Anciano , Femenino , Humanos , Ligadura , Masculino , Persona de Mediana EdadRESUMEN
INTRODUCTION: To date, only scant data has been reported regarding the anatomy of the radial nerve and profunda brachii artery and their relationships while within the triangular interval of the posterior arm. As this area has recently gained attention for using motor branches of the triceps muscle for nerve transfers, the present study was conducted. MATERIALS AND METHODS: Fifteen adult cadavers (30 sides) underwent dissection, observation and quantitation of their triangular intervals and its contents. The relationship between the profunda brachii and radial nerve in the proximal one half and distal one half of this area was documented. RESULTS: The length of the triangular interval had a mean of 6 cm and the width of this area was on average 2.5 cm. Within the triangular interval, we identified on average, 2.5 arterial branches and 2.3 nerve branches from the profunda brachii and radial nerve, respectively. The maximal number of branches of either the artery or nerve within this geometric region was five. In the proximal one half of this area, 75% of the arteries were found anterior to the radial nerve whereas in the distal one half of the interval most nerves were flanked by arterial branches on both medial and lateral sides. Not all branches of the profunda brachii artery were muscular in this region as some were found to supply the adjacent radial nerve. Communication between the profundi brachii artery in the triangular interval and the posterior humeral circumflex artery was found on two left sides (6.7%). CONCLUSIONS: We hope that these anatomical data may be useful to the surgeon who utilizes branches of the proximal radial nerve for neurotization procedures or branches of the profunda brachii for flap procedures.
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Brazo/irrigación sanguínea , Brazo/inervación , Arteria Braquial/anatomía & histología , Músculo Esquelético/inervación , Nervio Radial/anatomía & histología , Brazo/cirugía , Arteria Braquial/cirugía , Cadáver , Humanos , Húmero/irrigación sanguínea , Transferencia de Nervios/métodos , Procedimientos Neuroquirúrgicos/métodos , Nervio Radial/cirugía , Procedimientos Quirúrgicos Vasculares/métodosRESUMEN
PURPOSE: Juvenile open-angle glaucoma (JOAG) differs from primary open-angle glaucoma in that it is usually a more severe phenotype and has an earlier age of onset. Optineurin was recently associated with a variant of POAG that is characterized by intraocular pressure within normal limits: normal-tension glaucoma. The present study tested whether OPTN sequence changes play a role in early-onset glaucoma characterized by elevated intraocular pressure. METHODS: Sixty-six patients with JOAG characterized by high intraocular pressure were screened for mutations. Mutational analysis was performed with a combination of restriction enzyme digestion, single-strand conformation polymorphism, and direct sequencing. The effects of select changes on exon splicing were assessed using bioinformatic modeling approaches and RT-PCR. RESULTS: Ten sequence changes were identified, of which H486R was strongly suggestive of pathogenicity. H486R represents the first reported OPTN mutation associated with JOAG. Also, L41L is proposed to confer an increased susceptibility to the development of JOAG. Most of the other sequence changes observed were not thought to be biologically significant. The frequency of the previously reported M98K allele was not increased in the JOAG population studied but showed the previously reported skewed distribution in the POAG study population. The changes identified were not shown to affect the splicing machinery. CONCLUSIONS: The results of this work support the hypothesis that mutations in OPTN are not specifically associated with low-pressure glaucoma, but can play a role in JOAG.