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Greenfield B.,McGill University | Henry M.,McGill University | Lis E.,Psychiatry Resident | Slatkoff J.,British Columbia Ministry of Children and Family Development | And 9 more authors.
European Child and Adolescent Psychiatry | Year: 2015

This article examines a large cohort of previously suicidal adolescents, identifying those that surpassed threshold criteria for borderline personality disorder (BPD), according to the Abbreviated Diagnostic Interview of Borderlines (Ab-DIB), and determining the stability, correlates and predictors of BPD from early-to-late adolescence. Two hundred and eighty-six youth (mean baseline age 14.6 years; SD 1.5), presenting consecutively to a metropolitan pediatric hospital emergency department for evaluation of suicidality, were assessed at initial consultation for Axis I and II disorders and demographic and clinical variables. Two hundred and twenty-nine (80 %) were re-assessed for those variables 4 years later and 204 (70.3 %) had complete data sets at recruitment and follow-up. Previously suicidal youths who met BPD threshold on the Ab-DIB at recruitment were distinguishable at baseline from those who did not in conduct disorder symptoms (p < 0.003), lower levels of functioning (p < 0.001), drug use (p < 0.001), stressful life events (p < 0.003) and family relations (p < 0.001). The BPD diagnosis was consistent, according to this measure, at baseline and follow-up for 76 % of participants. Four groups with respect to borderline pathology (persisting, remitting, emerging and never) were identified (ICC = 0.603, 95 % CI = 0.40–0.78). Persistent BPD status was predictable by older age at presentation (p < 0.01) and level of functioning (p < 0.05). Eight percent were also suicidal at the 4-year follow-up. Using a self-report measure of BPD, we suggest that suicidal youth can indeed be diagnosed with the disorder at 14 years old, supporting the shift from DSM-IV to DSM-5, given what appears to be its temporal stability, differentiation of those suffering with considerable symptomatology or not, and predictors of its status in late adolescence. The low suicidality rate at follow-up indicates a good short-term prognosis. © 2014, Springer-Verlag Berlin Heidelberg. Source

Mysore N.,McGill University | Mysore N.,McGill Ocular Genetics Laboratory | Koenekoop J.,McGill Ocular Genetics Laboratory | Li S.,McGill Ocular Genetics Laboratory | And 6 more authors.
Cold Spring Harbor Perspectives in Medicine | Year: 2015

Photoreceptor neuronal degenerations are common and incurable causes of human blindness with one in 2000 affected. Approximately, half of all patients are associated with known mutations in more than 200 disease genes. Most retinal degenerations are restricted to the retina (primary retinal degeneration) but photoreceptor degeneration can also be found in a wide variety of systemic and syndromic diseases. These are called secondary retinal degenerations. We review several well-known systemic diseases with retinal degenerations (RD). We discuss RD with hearing loss, RD with brain disease, and RD with musculoskeletal disease. We then postulate which retinal degenerations may also have previously undetected systemic features. Emerging new and exciting evidence is showing that ubiquitously expressed genes associated with multitissue syndromic disorders may also harbor mutations that cause isolated primary retinal degeneration. Examples are RPGR, CEP290, CLN3, MFSD5, and HK1 mutations that cause a wide variety of primary retinal degenerations with intact systems. © 2015 Cold Spring Harbor Laboratory Press; all rights reserved. Source

Zhang A.Y.,McGill University | Zhang A.Y.,McGill Ocular Genetics Laboratory | Mysore N.,McGill University | Mysore N.,McGill Ocular Genetics Laboratory | And 22 more authors.
Investigative Ophthalmology and Visual Science | Year: 2015

PURPOSE. Photoreceptor neuronal degenerations are common, incurable causes of human blindness affecting 1 in 2000 patients worldwide. Only half of all patients are associated with known mutations in over 250 disease genes, prompting our research program to identify the remaining new genes. Most retinal degenerations are restricted to the retina, but photoreceptor degenerations can also be found in a wide variety of systemic diseases. We identified an X-linked family from Sri Lanka with a severe choroidal degeneration and postulated a new disease entity. Because of phenotypic overlaps with Bietti’s crystalline dystrophy, which was recently found to have systemic features, we hypothesized that a systemic disease may be present in this new disease as well. METHODS. For phenotyping, we performed detailed eye exams with in vivo retinal imaging by optical coherence tomography. For genotyping, we performed whole exome sequencing, followed by Sanger sequencing confirmations and cosegregation. Systemic investigations included electron microscopy studies of peripheral blood cells in patients and in normal controls and detailed fatty acid profiles (both plasma and red blood cell [RBC] membranes). Fatty acid levels were compared to normal controls, and only values two standard deviations above or below normal controls were further evaluated. RESULTS. The family segregated a REP1 mutation, suggesting choroideremia (CHM). We then found crystals in peripheral blood lymphocytes and discovered significant plasma fatty acid abnormalities and RBC membrane abnormalities (i.e., elevated plasmalogens). To replicate our discoveries, we expanded the cohort to nine CHM patients, genotyped them for REP1 mutations, and found the same abnormalities (crystals and fatty acid abnormalities) in all patients. CONCLUSIONS. Previously, CHM was thought to be restricted to the retina. We show, to our knowledge for the first time, that CHM is a systemic condition with prominent crystals in lymphocytes and significant fatty acid abnormalities. © 2015 The Association for Research in Vision and Ophthalmology, Inc. Source

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