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Author Astudillo, L.; Sabourdy, F.; Therville, N.; Bode, H.; Ségui, B.; Andrieu-Abadie, N.; Hornemann, T.; Levade, T. url  openurl
  Title Human genetic disorders of sphingolipid biosynthesis Type Journal Article
  Year 2015 Publication Abbreviated Journal J Inherit Metab Dis  
  Volume 38 Issue 1 Pages 65-76  
  Keywords research support, non-u.s. gov’t; lipid human disease  
  Abstract Monogenic defects of sphingolipid biosynthesis have been recently identified in human patients. These enzyme deficiencies affect the synthesis of sphingolipid precursors, ceramides or complex glycosphingolipids. They are transmitted as autosomal recessive or dominant traits, and their resulting phenotypes often replicate the abnormalities seen in murine models deficient for the corresponding enzymes. In quite good agreement with the known critical roles of sphingolipids in cells from the nervous system and the epidermis, these genetic defects clinically manifest as neurological disorders, including paraplegia, epilepsy or peripheral neuropathies, or present with ichthyosis. The present review summarizes the genetic alterations, biochemical changes and clinical symptoms of this new group of inherited metabolic disorders. Hypotheses regarding the molecular pathophysiology and potential treatments of these diseases are also discussed.  
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  ISSN (up) 0141-8955 ISBN Medium  
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  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45621  
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Author Chalavi, S.; Vissia, E.M.; Giesen, M.E.; Nijenhuis, E.R.S.; Draijer, N.; Barker, G.J.; Veltman, D.J.; Reinders, A.A.T.S. url  doi
openurl 
  Title Similar cortical but not subcortical gray matter abnormalities in women with posttraumatic stress disorder with versus without dissociative identity disorder Type Journal Article
  Year 2015 Publication Psychiatry Research Abbreviated Journal Psychiatry Res  
  Volume 231 Issue 3 Pages 308-319  
  Keywords Adolescent; Adult; Cerebral Cortex/*pathology; Comorbidity; Corpus Striatum/*pathology; Female; Gray Matter/*pathology; Hippocampus/pathology; Humans; *Life Change Events; Magnetic Resonance Imaging; Middle Aged; Multiple Personality Disorder/epidemiology/*pathology; Stress Disorders, Post-Traumatic/epidemiology/*pathology; Young Adult; Cortical surface area; Cortical thickness; Cortical volume; FreeSurfer; Neuroimaging; Subcortical volume  
  Abstract Neuroanatomical evidence on the relationship between posttraumatic stress disorder (PTSD) and dissociative disorders is still lacking. We acquired brain structural magnetic resonance imaging (MRI) scans from 17 patients with dissociative identity disorder (DID) and co-morbid PTSD (DID-PTSD) and 16 patients with PTSD but without DID (PTSD-only), and 32 healthy controls (HC), and compared their whole-brain cortical and subcortical gray matter (GM) morphological measurements. Associations between GM measurements and severity of dissociative and depersonalization/derealization symptoms or lifetime traumatizing events were evaluated in the patient groups. DID-PTSD and PTSD-only patients, compared with HC, had similarly smaller cortical GM volumes of the whole brain and of frontal, temporal and insular cortices. DID-PTSD patients additionally showed smaller hippocampal and larger pallidum volumes relative to HC, and larger putamen and pallidum volumes relative to PTSD-only. Severity of lifetime traumatizing events and volume of the hippocampus were negatively correlated. Severity of dissociative and depersonalization/derealization symptoms correlated positively with volume of the putamen and pallidum, and negatively with volume of the inferior parietal cortex. Shared abnormal brain structures in DID-PTSD and PTSD-only, small hippocampal volume in DID-PTSD, more severe lifetime traumatizing events in DID-PTSD compared with PTSD-only, and negative correlations between lifetime traumatizing events and hippocampal volume suggest a trauma-related etiology for DID. Our results provide neurobiological evidence for the side-by-side nosological classification of PTSD and DID in the DSM-5.  
  Address Department of Neuroscience, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; Department of Psychosis Studies, Institute of Psychiatry (IoP), Kings College London, De Crespigny Park, P.O. Box 40, London SE5 8AF, United Kingdom. Electronic address: a.a.t.s.reinders@gmail.com  
  Corporate Author Thesis  
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  ISSN (up) 0165-1781 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:25670646 Approved no  
  Call Number UU @ jana.mullerova @ Serial 42194  
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Author Armour, C.; Hansen, M. url  doi
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  Title Assessing DSM-5 latent subtypes of acute stress disorder dissociative or intrusive? Type Journal Article
  Year 2015 Publication Psychiatry Research Abbreviated Journal Psychiatry Res  
  Volume 225 Issue 3 Pages 476-483  
  Keywords Adult; Age Factors; *Diagnostic and Statistical Manual of Mental Disorders; Dissociative Disorders/classification/*diagnosis/psychology; Female; Humans; Male; Middle Aged; Risk Factors; Social Support; Stress Disorders, Traumatic, Acute/classification/*diagnosis/psychology; ASD subtypes; Dissociative ASD; Intrusive ASD; Latent profile analysis; Risk factors  
  Abstract Acute Stress Disorder (ASD) was first included in the DSM-IV in 1994. It was proposed to account for traumatic responding in the early post trauma phase and to act as an identifier for later Posttraumatic Stress Disorder (PTSD). Unlike PTSD it included a number of dissociative indicators. The revised DSM-5 PTSD criterion included a dissociative-PTSD subtype. The current study assessed if a dissociative-ASD subtype may be present for DSM-5 ASD. Moreover, we assessed if a number of risk factors resulted in an increased probability of membership in symptomatic compared to a baseline ASD profile. We used data from 450 bank robbery victims. Latent profile analysis (LPA) was used to uncover latent profiles of ASD. Multinomial logistic regression was used to determine if female gender, age, social support, peritraumatic panic, somatization, and number of trauma exposures increased or decreased the probability of profile membership. Four latent profiles were uncovered and included an intrusion rather than dissociative subtype. Increased age and social support decreased the probability of individuals being grouped into the intrusion subtype whereas increased peritraumatic panic and somatization increased the probability of individuals being grouped into the intrusion subtype. Findings are discussed in regard to the ICD-11 and the DSM-5.  
  Address National Centre for Psychotraumatology, Institute for Psychology, University of Southern Denmark, Denmark  
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  ISSN (up) 0165-1781 ISBN Medium  
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  Notes PMID:25535010 Approved no  
  Call Number UU @ jana.mullerova @ Serial 42196  
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Author Alkuraya, F.S. url  openurl
  Title Human knockout research: new horizons and opportunities Type Journal Article
  Year 2015 Publication Abbreviated Journal Trends Genet  
  Volume 31 Issue 2 Pages 108-115  
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  Abstract Although numerous approaches have been pursued to understand the function of human genes, Mendelian genetics has by far provided the most compelling and medically actionable dataset. Biallelic loss-of-function (LOF) mutations are observed in the majority of autosomal recessive Mendelian disorders, representing natural human knockouts and offering a unique opportunity to study the physiological and developmental context of these genes. The restriction of such context to ‘disease’ states is artificial, however, and the recent ability to survey entire human genomes for biallelic LOF mutations has revealed a surprising landscape of knockout events in ‘healthy’ individuals, sparking interest in their role in phenotypic diversity beyond disease causation. As I discuss in this review, the potentially wide implications of human knockout research warrant increased investment and multidisciplinary collaborations to overcome existing challenges and reap its benefits.  
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  ISSN (up) 0168-9525 ISBN Medium  
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  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45506  
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Author Andersson, R.; Sandelin, A.; Danko, C.G. url  openurl
  Title A unified architecture of transcriptional regulatory elements Type Journal Article
  Year 2015 Publication Abbreviated Journal Trends Genet  
  Volume 31 Issue 8 Pages 426-433  
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  Abstract Gene expression is precisely controlled in time and space through the integration of signals that act at gene promoters and gene-distal enhancers. Classically, promoters and enhancers are considered separate classes of regulatory elements, often distinguished by histone modifications. However, recent studies have revealed broad similarities between enhancers and promoters, blurring the distinction: active enhancers often initiate transcription, and some gene promoters have the potential to enhance transcriptional output of other promoters. Here, we propose a model in which promoters and enhancers are considered a single class of functional element, with a unified architecture for transcription initiation. The context of interacting regulatory elements and the surrounding sequences determine local transcriptional output as well as the enhancer and promoter activities of individual elements.  
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  ISSN (up) 0168-9525 ISBN Medium  
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  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45626  
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Author Aiff, H.; Attman, P.O.; Aurell, M.; Bendz, H.; Ramsauer, B.; Schön, S.; Svedlund, J. url  openurl
  Title Effects of 10 to 30 years of lithium treatment on kidney function Type Journal Article
  Year 2015 Publication Abbreviated Journal J Psychopharmacol  
  Volume 29 Issue 5 Pages 608-614  
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  Abstract Long-term lithium treatment is associated with end-stage renal disease, but there is little evidence of a clinically significant reduction in renal function in most patients. We previously found that 1.5% of people who took lithium from the 1960s and 1970s developed end-stage renal disease; however, none of the patients who started after 1980 had end-stage renal disease. Here we aimed to study the prevalence and extent of kidney damage during the course of long-term lithium treatment since 1980. We retrieved serum lithium and creatinine levels from 4879 patients examined between 1 January 1981 and 31 December 2010. Only patients who started their lithium treatment during the study period and had at least 10 years of cumulative treatment were included. The study group comprised 630 adult patients (402 women and 228 men) with normal creatinine levels at the start of lithium treatment. There was a yearly increase in median serum creatinine levels already from the first year of treatment. About one-third of the patients who had taken lithium for 10-29 years had evidence of chronic renal failure but only 5% were in the severe or very severe category. The results indicate that a substantial proportion of adult patients who are treated with lithium for more than a decade develop signs of renal functional impairment, also when treated according to modern therapeutic principles. Our results emphasise that lithium treatment requires continuous monitoring of kidney function.  
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  ISSN (up) 0269-8811 ISBN Medium  
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  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45943  
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Author Ramachandra, T.V.; Bharath, A.H.; Sowmyashree, M.V. url  openurl
  Title Monitoring urbanization and its implications in a mega city from space: Spatiotemporal patterns and its indicators Type Journal Article
  Year 2015 Publication Abbreviated Journal Journal of Environmental Management  
  Volume 148 Issue Pages 67-81  
  Keywords Delhi; Remote sensing; Spatial metrics; Urbanization; Urban sprawl  
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  ISSN (up) 0301-4797 ISBN Medium  
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  Notes Approved no  
  Call Number CES @ dilipnaidu.gt @ Serial 43048  
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Author Zaba, M.; Kirmeier, T.; Ionescu, I.A.; Wollweber, B.; Buell, D.R.; Gall-Kleebach, D.J.; Schubert, C.F.; Novak, B.; Huber, C.; Kohler, K.; Holsboer, F.; Putz, B.; Muller-Myhsok, B.; Hohne, N.; Uhr, M.; Ising, M.; Herrmann, L.; Schmidt, U. url  doi
openurl 
  Title Identification and characterization of HPA-axis reactivity endophenotypes in a cohort of female PTSD patients Type Journal Article
  Year 2015 Publication Psychoneuroendocrinology Abbreviated Journal Psychoneuroendocrinology  
  Volume 55 Issue Pages 102-115  
  Keywords Fkbp5; Gene expression; Ptsd; PTSD subtypes; Posttraumatic stress disorder; Stress reactivity; Trier Social Stress Test  
  Abstract Analysis of the function of the hypothalamic-pituitary-adrenal (HPA)-axis in patients suffering from posttraumatic stress disorder (PTSD) has hitherto produced inconsistent findings, inter alia in the Trier Social Stress Test (TSST). To address these inconsistencies, we compared a sample of 23 female PTSD patients with either early life trauma (ELT) or adult trauma (AT) or combined ELT and AT to 18 age-matched non-traumatized female healthy controls in the TSST which was preceded by intensive baseline assessments. During the TSST, we determined a variety of clinical, psychological, endocrine and cardiovascular parameters as well as expression levels of four HPA-axis related genes. Using a previously reported definition of HPA-axis responsive versus non-responsive phenotypes, we identified for the first time two clinically and biologically distinct HPA-axis reactivity subgroups of PTSD. One subgroup (“non-responders”) showed a blunted HPA-axis response and distinct clinical and biological characteristics such as a higher prevalence of trauma-related dissociative symptoms and of combined AT and ELT as well as alterations in the expression kinetics of the genes encoding for the mineralocorticoid receptor (MR) and for FK506 binding protein 51 (FKBP51). Interestingly, this non-responder subgroup largely drove the relatively diminished HPA axis response of the total cohort of PTSD patients. These findings are limited by the facts that the majority of patients was medicated, by the lack of traumatized controls and by the relatively small sample size. The here for the first time identified and characterized HPA-axis reactivity endophenotypes offer an explanation for the inconsistent reports on HPA-axis function in PTSD and, moreover, suggest that most likely other factors than HPA-axis reactivity play a decisive role in determination of PTSD core symptom severity.  
  Address Max Planck Institute of Psychiatry, Clinical Department, Kraepelinstrasse 10, 80804 Munchen, Germany. Electronic address: uschmidt@mpipsykl.mpg.de  
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  ISSN (up) 0306-4530 ISBN Medium  
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  Notes PMID:25745955 Approved no  
  Call Number UU @ jana.mullerova @ Serial 42193  
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Author Abbasi, F.; Azizi, F.; Javaheri, M.; Mosallanejad, A.; Ebrahim-Habibi, A.; Ghafouri-Fard, S. url  openurl
  Title Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family Type Journal Article
  Year 2015 Publication Abbreviated Journal Gene  
  Volume 557 Issue 1 Pages 103-105  
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  Abstract Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family. Here, we report an Iranian family with 2 affected siblings. The clinical findings in the patients include developmental delay, failure to thrive, hepatomegaly, enlarged kidneys and rickets. A novel 6 nucleotide deletion (c.10611066del6, p.V355S356del2) is shown to be segregated with the disease in this family.  
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  ISSN (up) 0378-1119 ISBN Medium  
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  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45434  
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Author Chitra-Tarak, R.; Ruiz, L.; Pulla, S.; Dattaraja, H.S.; Suresh, H.S.; Sukumar, R. url  openurl
  Title And yet it shrinks: A novel method for correcting bias in forest tree growth estimates caused by water-induced fluctuations Type Journal Article
  Year 2015 Publication Abbreviated Journal Forest Ecology and Management  
  Volume 336 Issue Pages 129-136  
  Keywords Above-ground biomass; Carbon; Permanent sampling plot; Reversible stem flexing; Seasonally dry tropical forest; Tree shrinkage  
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  ISSN (up) 0378-1127 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number CES @ dilipnaidu.gt @ Serial 42959  
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