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Find video protocols related to scientific articles indexed in Pubmed.
Apolipoprotein e genotype and the diagnostic accuracy of cerebrospinal fluid biomarkers for Alzheimer disease.
JAMA Psychiatry
PUBLISHED: 08-28-2014
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Several studies suggest that the apolipoprotein E (APOE) ?4 allele modulates cerebrospinal fluid (CSF) levels of ?-amyloid 42 (A?42). Whether this effect is secondary to the association of the APOE ?4 allele with cortical A? deposition or whether APOE ?4 directly influences CSF levels of A?42 independently of A? pathology remains unknown.
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[In Process Citation].
Lakartidningen
PUBLISHED: 08-19-2014
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We present estimates of the societal cost of bipolar disorder, depression, and schizophrenia for patients treated in psychiatric care in Sweden, and add previously unpublished data for generalized anxiety disorder. Retrospective resource use data on outpatient and inpatient care, as well as ICD-10 diagnoses and Global Assessment of Functioning, were obtained from the Northern Stockholm psychiatric clinic. National registers were used for estimating costs of pharmaceuticals and productivity losses. The yearly cost per patient was 259 000 SEK for bipolar disorder, 159 000 SEK for depression, 156 000 SEK for generalized anxiety disorder and 509 000 SEK for schizophrenia (1 € = 9.23 SEK). The total costs for all four diagnoses were 75 billion SEK in 2008, with indirect costs due to productivity losses representing 75%. The high indirect costs for these psychiatric diagnoses suggest that treatments which improve functioning have a large potential to reduce the total societal costs.        
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Bipolar disorder and its relation to major psychiatric disorders: a family-based study in the Swedish population.
Bipolar Disord
PUBLISHED: 08-13-2014
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Bipolar disorder (BPD) shares genetic components with other psychiatric disorders; however, uncertainty remains about where in the psychiatric spectra BPD falls. To understand the etiology of BPD, we studied the familial aggregation of BPD and co-aggregation between BPD and schizophrenia, depression, anxiety disorders, attention-deficit hyperactivity disorder, drug abuse, personality disorders, and autism spectrum disorders.
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Subcortical morphometry and psychomotor function in euthymic bipolar disorder with a history of psychosis.
Brain Imaging Behav
PUBLISHED: 07-19-2014
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Psychomotor disturbances are prominent in bipolar disorder patients with a history of psychosis, but their neural correlates remain largely unexplored. We hypothesized that these psychomotor disturbances are associated with morphometric changes in functionally specific regions of the basal ganglia and thalamus. To test if psychomotor performance is associated with changes in volume and shape in these brain regions, we investigated 20 euthymic bipolar disorder patients with a history of psychosis and 20 healthy controls with structural magnetic resonance imaging and vertex-based morphometry. Within the patient group, the local shape of the basal ganglia was significantly associated with longer duration of illness, increased number of manic episodes, and treatment with antipsychotics. There were neither any statistically significant associations between psychomotor performance and morphometric measures in the patient group, nor any significant morphometric differences between patients and controls. We conclude that euthymic subjects with bipolar disorder and a previous history of psychosis show shape changes in regions of the basal ganglia associated to clinical variables that may predict psychomotor disturbances in bipolar disorder.
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The risk of switch to mania in patients with bipolar disorder during treatment with an antidepressant alone and in combination with a mood stabilizer.
Am J Psychiatry
PUBLISHED: 06-18-2014
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This study examined the risk of antidepressant-induced manic switch in patients with bipolar disorder treated either with antidepressant monotherapy or with an antidepressant in conjunction with a mood stabilizer.
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The association between Darier disease, bipolar disorder, and schizophrenia revisited: a population-based family study.
Bipolar Disord
PUBLISHED: 06-09-2014
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Darier disease is an autosomal dominant skin disorder caused by mutations in the ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2) gene and previously reported to cosegregate with bipolar disorder and schizophrenia in occasional pedigrees. It is, however, unknown whether these associations exist also in the general population, and the objective of this study was to examine this question.
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An analysis of all applications for sex reassignment surgery in sweden, 1960-2010: prevalence, incidence, and regrets.
Arch Sex Behav
PUBLISHED: 05-29-2014
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Incidence and prevalence of applications in Sweden for legal and surgical sex reassignment were examined over a 50-year period (1960-2010), including the legal and surgical reversal applications. A total of 767 people (289 natal females and 478 natal males) applied for legal and surgical sex reassignment. Out of these, 89 % (252 female-to-males [FM] and 429 male-to-females [MF]) received a new legal gender and underwent sex reassignment surgery (SRS). A total of 25 individuals (7 natal females and 18 natal males), equaling 3.3 %, were denied a new legal gender and SRS. The remaining withdrew their application, were on a waiting list for surgery, or were granted partial treatment. The incidence of applications was calculated and stratified over four periods between 1972 and 2010. The incidence increased significantly from 0.16 to 0.42/100,000/year (FM) and from 0.23 to 0.73/100,000/year (MF). The most pronounced increase occurred after 2000. The proportion of FM individuals 30 years or older at the time of application remained stable around 30 %. In contrast, the proportion of MF individuals 30 years or older increased from 37 % in the first decade to 60 % in the latter three decades. The point prevalence at December 2010 for individuals who applied for a new legal gender was for FM 1:13,120 and for MF 1:7,750. The FM:MF sex ratio fluctuated but was 1:1.66 for the whole study period. There were 15 (5 MF and 10 MF) regret applications corresponding to a 2.2 % regret rate for both sexes. There was a significant decline of regrets over the time period.
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Hypospadias and increased risk for neurodevelopmental disorders.
J Child Psychol Psychiatry
PUBLISHED: 05-25-2014
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Hypospadias (aberrant opening of the urethra on the underside of the penis) occurs in 1 per 300 newborn boys. It has been previously unknown whether this common malformation is associated with increased psychiatric morbidity later in life. Studies of individuals with hypospadias also provide an opportunity to examine whether difference in androgen signaling is related to neurodevelopmental disorders. To elucidate the mechanisms behind a possible association, we also studied psychiatric outcomes among brothers of the hypospadias patients.
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The Roots of Autism and ADHD Twin Study in Sweden (RATSS).
Twin Res Hum Genet
PUBLISHED: 04-15-2014
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Neurodevelopmental disorders affect a substantial minority of the general population. Their origins are still largely unknown, but a complex interplay of genetic and environmental factors causing disturbances of the central nervous system's maturation and a variety of higher cognitive skills is presumed. Only limited research of rather small sample size and narrow scope has been conducted in neurodevelopmental disorders using a twin-differences design. The Roots of Autism and ADHD Twin Study in Sweden (RATSS) is an ongoing project targeting monozygotic twins discordant for categorical or dimensional autistic and inattentive/hyperactive-impulsive phenotypes as well as other neurodevelopmental disorders, and typically developing twin controls. Included pairs are 9 years of age or older, and comprehensively assessed for psychopathology, medical history, neuropsychology, and dysmorphology, as well as structural, functional, and molecular brain imaging. Specimens are collected for induced pluripotent (iPS) and neuroepithelial stem cells, genetic, gut bacteria, protein-/monoamine, and electron microscopy analyses. RATSS's objective is to generate a launch pad for novel surveys to understand the complexity of genotype-environment-phenotype interactions in autism spectrum disorder and attention-deficit hyperactivity disorder (ADHD). By October 2013, RATSS had collected data from 55 twin pairs, among them 10 monozygotic pairs discordant for autism spectrum disorder, seven for ADHD, and four for other neurodevelopmental disorders. This article describes the design, recruitment, data collection, measures, collected pairs' characteristics, as well as ongoing and planned analyses in RATSS. Potential gains of the study comprise the identification of environmentally mediated biomarkers, the emergence of candidates for drug development, translational modeling, and new leads for prevention of incapacitating outcomes.
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The association between schizophrenia and rheumatoid arthritis: a nationwide population-based Swedish study on intraindividual and familial risks.
Schizophr Bull
PUBLISHED: 04-08-2014
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Numerous studies have reported a reduced risk of rheumatoid arthritis (RA) in schizophrenia. The mechanisms are unknown, but recent genome-wide association studies of schizophrenia have shown strong associations with markers spanning the major histocompatibility complex region, indicating a possible role for adaptive immunity also in schizophrenia. In this population-based cohort study, we assess the associations between RA and schizophrenia and the extent to which any observed associations are specific to RA/schizophrenia. We then extend the assessments per RA subtype and to risks in first-degree relatives. The study population included every individual identified in the Swedish Population Register born in Sweden between 1932 and 1989. The risk for RA in schizophrenia was significantly decreased (hazard ratio [HR] = 0.69, 95% CI = 0.59-0.80), but similar reductions were noted for osteoarthritis (a noninflammatory joint disorder) and ankylosing spondylitis (a non-RA inflammatory disorder). Comparable associations were seen in schizoaffective subjects while no significant associations were observed in bipolar disorder. Overall, first-degree relatives of schizophrenia patients were not at reduced risk of RA, but the risk for seronegative RA was significantly decreased in children and siblings of schizophrenia probands (HR = 0.13, 95% CI = 0.02-0.95 and HR = 0.67, 95% CI = 049-0.92, respectively). In conclusion, our intraindividual analyses suggest that differential misclassification bias is an important factor for the observed inverse association and emphasize the need of optimized care-provision for nonpsychiatric symptoms in schizophrenia patients. Our familial analyses indicted the possibility of an inverse coinheritance of schizophrenia and seronegative RA.
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Applying polygenic risk scores to postpartum depression.
Arch Womens Ment Health
PUBLISHED: 03-24-2014
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The etiology of major depressive disorder (MDD) is likely to be heterogeneous, but postpartum depression (PPD) is hypothesized to represent a more homogenous subset of MDD. We use genome-wide SNP data to explore this hypothesis. We assembled a total cohort of 1,420 self-report cases of PPD and 9,473 controls with genome-wide genotypes from Australia, The Netherlands, Sweden and the UK. We estimated the total variance attributable to genotyped variants. We used association results from the Psychiatric Genomics Consortia (PGC) of bipolar disorder (BPD) and MDD to create polygenic scores in PPD and related MDD data sets to estimate the genetic overlap between the disorders. We estimated that the percentage of variance on the liability scale explained by common genetic variants to be 0.22 with a standard error of 0.12, p?=?0.02. The proportion of variance (R (2)) from a logistic regression of PPD case/control status in all four cohorts on a SNP profile score weighted by PGC-BPD association results was small (0.1 %) but significant (p?=?0.004) indicating a genetic overlap between BPD and PPD. The results were highly significant in the Australian and Dutch cohorts (R (2)?>?1.1 %, p?
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Elevated concentrations of neurofilament light chain in the cerebrospinal fluid of bipolar disorder patients.
Neuropsychopharmacology
PUBLISHED: 02-07-2014
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Bipolar disorder (BD) is characterized by mood swings between manic and depressive states. The etiology and pathogenesis of BD is unclear, but many of the affected cognitive domains, as well as neuroanatomical abnormalities, resemble symptoms and signs of small vessel disease. In small vessel disease, cerebrospinal fluid (CSF) markers reflecting damages in different cell types and subcellular structures of the brain have been established. Hence, we hypothesized that CSF markers related to small vessel disease may also be applicable as biomarkers for BD. To investigate this hypothesis, we sampled CSF from 133 patients with BD and 86 healthy controls. The concentrations of neurofilament light chain (NF-L), myelin basic protein (MBP), S100B, and heart-type fatty acid binding protein (H-FABP) were measured in CSF and analyzed in relation to diagnosis, clinical characteristics, and ongoing medications. Hereby we found an elevation of the marker of subcortical axonal damage, NF-L, in bipolar subjects. We also identified positive associations between NF-L and treatment with atypical antipsychotics, MBP and lamotrigine, and H-FABP and lithium. These findings indicate axonal damage as an underlying neuropathological component of bipolar disorder, although the clinical value of elevated NF-L remains to be validated in follow-up studies. The associations between current medications and CSF brain injury markers might aid in the understanding of both therapeutic and adverse effects of these drugs.
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Blood-cerebrospinal fluid barrier dysfunction in patients with bipolar disorder in relation to antipsychotic treatment.
Psychiatry Res
PUBLISHED: 01-20-2014
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Blood-cerebrospinal barrier (BCB) dysfunction has previously been shown in subjects with schizophrenia and depressed patients with attempted suicide. Bipolar disorder (BPD) shares clinical features with both these disorders, but it is unknown if the integrity of the BCB is altered also in BPD. To assess if BCB function in BPD we surveyed 134 mood-stabilized BPD patients and 86 healthy controls. Serum and cerebrospinal fluid (CSF) samples were collected and analyzed for albumin concentration by immunonephelometry. CSF/serum albumin ratio, an established measure of BCB function, was significantly elevated in BPD patients as compared to controls. After stratifying patients according to diagnostic subtype, BPD I patients had the highest CSF/serum albumin ratios. Moreover, BPD patients on antipsychotic treatment had higher CSF/serum albumin ratio than BPD patients on other treatments. When excluding BPD patients on antipsychotic treatment the difference in CSF/serum albumin ratio between the BPD and control groups disappeared. In conclusion, antipsychotic treatment in BPD is associated with elevated CSF/serum albumin ratio, tentatively as a sign of impaired BCB function. Whether this elevation is caused by antipsychotic treatment or is associated with a certain subtype of BPD, requiring antipsychotic treatment, remains to be determined.
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Abnormality in serum levels of mature brain-derived neurotrophic factor (BDNF) and its precursor proBDNF in mood-stabilized patients with bipolar disorder: a study of two independent cohorts.
J Affect Disord
PUBLISHED: 01-20-2014
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Early detection and diagnosis of bipolar disorder can be difficult. Tools are needed to help clinicians detect bipolar disorder earlier, which would ameliorate the prognosis.
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Vertex-based morphometry in euthymic bipolar disorder implicates striatal regions involved in psychomotor function.
Psychiatry Res
PUBLISHED: 01-10-2014
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We hypothesized that psychomotor disturbances in patients with bipolar disorder are associated with morphometric changes in functionally specific regions of the basal ganglia and thalamus. We used structural magnetic resonance imaging and vertex-based morphometry to investigate whether psychomotor performance is associated with changes in volume and shape in euthymic subjects with bipolar disorder (n=27) compared with matched healthy controls (n=27). We saw no significant differences between age- and sex-matched groups in motor performance. We found a statistically significant group difference in the shape of the right putamen in the absence of psychomotor disturbances. There was an association between shape and motor performance in controls that was lacking in patients. We conclude that euthymic subjects with bipolar disorder without psychomotor disturbances show shape changes in regions of the right putamen that contribute to executive functions and motor function. It may be that other brain regions sustain the psychomotor functions that produce nearly identical motor performance in both groups.
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The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.
Paul M Thompson, Jason L Stein, Sarah E Medland, Derrek P Hibar, Alejandro Arias Vasquez, Miguel E Rentería, Roberto Toro, Neda Jahanshad, Gunter Schumann, Barbara Franke, Margaret J Wright, Nicholas G Martin, Ingrid Agartz, Martin Alda, Saud Alhusaini, Laura Almasy, Jorge Almeida, Kathryn Alpert, Nancy C Andreasen, Ole A Andreassen, Liana G Apostolova, Katja Appel, Nicola J Armstrong, Benjamin Aribisala, Mark E Bastin, Michael Bauer, Carrie E Bearden, Orjan Bergmann, Elisabeth B Binder, John Blangero, Henry J Bockholt, Erlend Bøen, Catherine Bois, Dorret I Boomsma, Tom Booth, Ian J Bowman, Janita Bralten, Rachel M Brouwer, Han G Brunner, David G Brohawn, Randy L Buckner, Jan Buitelaar, Kazima Bulayeva, Juan R Bustillo, Vince D Calhoun, Dara M Cannon, Rita M Cantor, Melanie A Carless, Xavier Caseras, Gianpiero L Cavalleri, M Mallar Chakravarty, Kiki D Chang, Christopher R K Ching, Andrea Christoforou, Sven Cichon, Vincent P Clark, Patricia Conrod, Giovanni Coppola, Benedicto Crespo-Facorro, Joanne E Curran, Michael Czisch, Ian J Deary, Eco J C de Geus, Anouk den Braber, Giuseppe Delvecchio, Chantal Depondt, Lieuwe de Haan, Greig I de Zubicaray, Danai Dima, Rali Dimitrova, Srdjan Djurovic, Hongwei Dong, Gary Donohoe, Ravindranath Duggirala, Thomas D Dyer, Stefan Ehrlich, Carl Johan Ekman, Torbjørn Elvsåshagen, Louise Emsell, Susanne Erk, Thomas Espeseth, Jesen Fagerness, Scott Fears, Iryna Fedko, Guillén Fernández, Simon E Fisher, Tatiana Foroud, Peter T Fox, Clyde Francks, Sophia Frangou, Eva Maria Frey, Thomas Frodl, Vincent Frouin, Hugh Garavan, Sudheer Giddaluru, David C Glahn, Beata Godlewska, Rita Z Goldstein, Randy L Gollub, Hans J Grabe, Oliver Grimm, Oliver Gruber, Tulio Guadalupe, Raquel E Gur, Ruben C Gur, Harald H H Göring, Saskia Hagenaars, Tomáš Hájek, Geoffrey B Hall, Jeremy Hall, John Hardy, Catharina A Hartman, Johanna Hass, Sean N Hatton, Unn K Haukvik, Katrin Hegenscheid, Andreas Heinz, Ian B Hickie, Beng-Choon Ho, David Hoehn, Pieter J Hoekstra, Marisa Hollinshead, Avram J Holmes, Georg Homuth, Martine Hoogman, L Elliot Hong, Norbert Hosten, Jouke-Jan Hottenga, Hilleke E Hulshoff Pol, Kristy S Hwang, Clifford R Jack, Mark Jenkinson, Caroline Johnston, Erik G Jönsson, René S Kahn, Dalia Kasperaviciute, Sinead Kelly, Sungeun Kim, Peter Kochunov, Laura Koenders, Bernd Krämer, John B J Kwok, Jim Lagopoulos, Gonzalo Laje, Mikael Landén, Bennett A Landman, John Lauriello, Stephen M Lawrie, Phil H Lee, Stephanie Le Hellard, Herve Lemaitre, Cassandra D Leonardo, Chiang-Shan Li, Benny Liberg, David C Liewald, Xinmin Liu, Lorna M Lopez, Eva Loth, Anbarasu Lourdusamy, Michelle Luciano, Fabio Macciardi, Marise W J Machielsen, Glenda M Macqueen, Ulrik F Malt, René Mandl, Dara S Manoach, Jean-Luc Martinot, Mar Matarin, Karen A Mather, Manuel Mattheisen, Morten Mattingsdal, Andreas Meyer-Lindenberg, Colm McDonald, Andrew M McIntosh, Francis J McMahon, Katie L McMahon, Eva Meisenzahl, Ingrid Melle, Yuri Milaneschi, Sebastian Mohnke, Grant W Montgomery, Derek W Morris, Eric K Moses, Bryon A Mueller, Susana Muñoz Maniega, Thomas W Mühleisen, Bertram Müller-Myhsok, Benson Mwangi, Matthias Nauck, Kwangsik Nho, Thomas E Nichols, Lars-Göran Nilsson, Allison C Nugent, Lars Nyberg, Rene L Olvera, Jaap Oosterlaan, Roel A Ophoff, Massimo Pandolfo, Melina Papalampropoulou-Tsiridou, Martina Papmeyer, Tomas Paus, Zdenka Pausova, Godfrey D Pearlson, Brenda W Penninx, Charles P Peterson, Andrea Pfennig, Mary Phillips, G Bruce Pike, Jean-Baptiste Poline, Steven G Potkin, Benno Pütz, Adaikalavan Ramasamy, Jerod Rasmussen, Marcella Rietschel, Mark Rijpkema, Shannon L Risacher, Joshua L Roffman, Roberto Roiz-Santiañez, Nina Romanczuk-Seiferth, Emma J Rose, Natalie A Royle, Dan Rujescu, Mina Ryten, Perminder S Sachdev, Alireza Salami, Theodore D Satterthwaite, Jonathan Savitz, Andrew J Saykin, Cathy Scanlon, Lianne Schmaal, Hugo G Schnack, Andrew J Schork, S Charles Schulz, Remmelt Schür, Larry Seidman, Li Shen, Jody M Shoemaker, Andrew Simmons, Sanjay M Sisodiya, Colin Smith, Jordan W Smoller, Jair C Soares, Scott R Sponheim, Emma Sprooten, John M Starr, Vidar M Steen, Stephen Strakowski, Lachlan Strike, Jessika Sussmann, Philipp G Sämann, Alexander Teumer, Arthur W Toga, Diana Tordesillas-Gutierrez, Daniah Trabzuni, Sarah Trost, Jessica Turner, Martijn van den Heuvel, Nic J van der Wee, Kristel van Eijk, Theo G M van Erp, Neeltje E M van Haren, Dennis van 't Ent, Marie-José van Tol, Maria C Valdés Hernández, Dick J Veltman, Amelia Versace, Henry Völzke, Robert Walker, Henrik Walter, Lei Wang, Joanna M Wardlaw, Michael E Weale, Michael W Weiner, Wei Wen, Lars T Westlye, Heather C Whalley, Christopher D Whelan, Tonya White, Anderson M Winkler, Katharina Wittfeld, Girma Woldehawariat, Christiane Wolf, David Zilles, Marcel P Zwiers, Anbupalam Thalamuthu, Peter R Schofield, Nelson B Freimer, Natalia S Lawrence, Wayne Drevets, .
Brain Imaging Behav
PUBLISHED: 01-09-2014
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The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
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Attempted suicide in bipolar disorder: risk factors in a cohort of 6086 patients.
PLoS ONE
PUBLISHED: 01-01-2014
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Bipolar disorder is associated with high risk of self-harm and suicide. We wanted to investigate risk factors for attempted suicide in bipolar patients.
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Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
J. Clin. Endocrinol. Metab.
PUBLISHED: 12-03-2013
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Context:Reports on psychiatric morbidity in males with congenital adrenal hyperplasia (CAH) are lacking.Objective:To study psychiatric disorders in CAH males.Design, Setting and Participants:We studied males with CAH (21-hydroxylase deficiency, n=253; CYP21A2 mutations known, n=185), and compared them with controls (n=25300). Data were derived through linkage of national population-based registers. We assessed the subgroups of CYP21A2 genotype separately (null, I2splice, I172N, P30L and NC), as well as outcomes before and after the introduction of national neonatal screening in 1986.Main Outcome Measures:Psychiatric disorders including attempted and completed suicide (suicidality).Results:Psychiatric disorders (suicidality not included), suicidality and alcohol misuse were increased in CAH males compared with controls (OR 1.5, 2.3, and 1.9; 95%CI 1.1-2.2, 1.1-5.0, and 1.0-3.5). In the null genotype group, no increased rates were seen; in the I2splice group, psychiatric disorders, personality disorders and alcohol misuse were increased; in the I172N group suicide attempt and drug misuse were increased; and in the P30L and NC group psychotic disorders were increased. In CAH males born before the neonatal screening, the rate of psychiatric disorders and suicidality were increased, but only psychotic disorders in those born after. There was no increased risk for any neurodevelopmental disorder.Conclusions:CAH males have an increased psychiatric morbidity. Psychiatric morbidity was not raised in the most severe genotype group. Late diagnosis of CAH may explain some of the findings. Those born before the introduction of neonatal screening were more affected, which may be explained by the higher age.
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Motor imagery in bipolar depression with slowed movement.
J. Nerv. Ment. Dis.
PUBLISHED: 10-02-2013
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We hypothesized that motor retardation in bipolar depression is mediated by disruption of the pre-executive stages of motor production. We used functional magnetic resonance imaging to investigate neural activity during motor imagery and motor execution to elucidate whether brain regions that mediate planning, preparation, and control of movement are activated differently in subjects with bipolar depression (n = 9) compared with healthy controls (n = 12). We found significant between-group differences. During motor imagery, the patients activated the posterior medial parietal cortex, the posterior cingulate cortex, the premotor cortex, the prefrontal cortex, and the frontal poles more than the controls did. Activation in the brain areas involved in motor selection, planning, and preparation was altered. In addition, limbic and prefrontal regions associated with self-reference and the default mode network were altered during motor imagery in bipolar depression with motor retardation.
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The societal cost of bipolar disorder in Sweden.
Soc Psychiatry Psychiatr Epidemiol
PUBLISHED: 05-27-2013
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There is a lack of comprehensive cost-of-illness studies in bipolar disorder, in particular studies based on patient-level data. The purpose of this study was to estimate the societal cost of bipolar disorder and to relate costs to disease severity, depressive episodes, hospitalisation and patient functioning.
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Risk of bipolar disorder and schizophrenia in relatives of people with attention-deficit hyperactivity disorder.
Br J Psychiatry
PUBLISHED: 05-23-2013
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Attention-deficit hyperactivity disorder (ADHD) is associated with bipolar disorder and schizophrenia, and it has been suggested that combined bipolar disorder and ADHD is aetiologically distinct from the pure disorders.
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Klinefelter syndrome and risk of psychosis, autism and ADHD.
J Psychiatr Res
PUBLISHED: 04-12-2013
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Schizophrenia, bipolar disorder, autism spectrum disorders and ADHD might be overrepresented in Klinefelter syndrome, but previous investigations have yielded inconclusive results.
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Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings.
JAMA Psychiatry
PUBLISHED: 03-19-2013
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It is unknown how genetic variants conferring liability to psychiatric disorders survive in the population despite strong negative selection. However, this is key to understanding their etiology and designing studies to identify risk variants.
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The societal cost of schizophrenia in Sweden.
J Ment Health Policy Econ
PUBLISHED: 02-23-2013
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Schizophrenia is a disabling psychiatric disorder that has severe consequences for patients and their families. Moreover, the expensive treatment of schizophrenia imposes a burden on health care providers and the wider society. Existing cost estimates for Sweden, however, are based on relatively small patient populations and need to be confirmed in a large register-based study.
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Decreased cerebrospinal fluid secretogranin II concentrations in severe forms of bipolar disorder.
J Psychiatry Neurosci
PUBLISHED: 02-19-2013
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Bipolar disorder is a common psychiatric mood disorder that is defined by recurrent episodes of abnormally elevated mood and depression. Progressive structural brain changes in individuals with bipolar disorder have been suggested to be associated with defects in the secretion of neurotrophic factors. We sought to assess how the regulated secretory pathway in the brain is affected in patients with bipolar disorder by measuring chromogranin B and secretogranin II, which are 2 cerebrospinal fluid (CSF) biological markers for this process.
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
, S Hong Lee, Stephan Ripke, Benjamin M Neale, Stephen V Faraone, Shaun M Purcell, Roy H Perlis, Bryan J Mowry, Anita Thapar, Michael E Goddard, John S Witte, Devin Absher, Ingrid Agartz, Huda Akil, Farooq Amin, Ole A Andreassen, Adebayo Anjorin, Richard Anney, Verneri Anttila, Dan E Arking, Philip Asherson, Maria H Azevedo, Lena Backlund, Judith A Badner, Anthony J Bailey, Tobias Banaschewski, Jack D Barchas, Michael R Barnes, Thomas B Barrett, Nicholas Bass, Agatino Battaglia, Michael Bauer, Mònica Bayés, Frank Bellivier, Sarah E Bergen, Wade Berrettini, Catalina Betancur, Thomas Bettecken, Joseph Biederman, Elisabeth B Binder, Donald W Black, Douglas H R Blackwood, Cinnamon S Bloss, Michael Boehnke, Dorret I Boomsma, Gerome Breen, René Breuer, Richard Bruggeman, Paul Cormican, Nancy G Buccola, Jan K Buitelaar, William E Bunney, Joseph D Buxbaum, William F Byerley, Enda M Byrne, Sian Caesar, Wiepke Cahn, Rita M Cantor, Miguel Casas, Aravinda Chakravarti, Kimberly Chambert, Khalid Choudhury, Sven Cichon, C Robert Cloninger, David A Collier, Edwin H Cook, Hilary Coon, Bru Cormand, Aiden Corvin, William H Coryell, David W Craig, Ian W Craig, Jennifer Crosbie, Michael L Cuccaro, David Curtis, Darina Czamara, Susmita Datta, Geraldine Dawson, Richard Day, Eco J De Geus, Franziska Degenhardt, Srdjan Djurovic, Gary J Donohoe, Alysa E Doyle, Jubao Duan, Frank Dudbridge, Eftichia Duketis, Richard P Ebstein, Howard J Edenberg, Josephine Elia, Sean Ennis, Bruno Etain, Ayman Fanous, Anne E Farmer, I Nicol Ferrier, Matthew Flickinger, Eric Fombonne, Tatiana Foroud, Josef Frank, Barbara Franke, Christine Fraser, Robert Freedman, Nelson B Freimer, Christine M Freitag, Marion Friedl, Louise Frisén, Louise Gallagher, Pablo V Gejman, Lyudmila Georgieva, Elliot S Gershon, Daniel H Geschwind, Ina Giegling, Michael Gill, Scott D Gordon, Katherine Gordon-Smith, Elaine K Green, Tiffany A Greenwood, Dorothy E Grice, Magdalena Gross, Detelina Grozeva, Weihua Guan, Hugh Gurling, Lieuwe de Haan, Jonathan L Haines, Hakon Hakonarson, Joachim Hallmayer, Steven P Hamilton, Marian L Hamshere, Thomas F Hansen, Annette M Hartmann, Martin Hautzinger, Andrew C Heath, Anjali K Henders, Stefan Herms, Ian B Hickie, Maria Hipolito, Susanne Hoefels, Peter A Holmans, Florian Holsboer, Witte J Hoogendijk, Jouke-Jan Hottenga, Christina M Hultman, Vanessa Hus, Andrés Ingason, Marcus Ising, Stéphane Jamain, Edward G Jones, Ian Jones, Lisa Jones, Jung-Ying Tzeng, Anna K Kähler, René S Kahn, Radhika Kandaswamy, Matthew C Keller, James L Kennedy, Elaine Kenny, Lindsey Kent, Yunjung Kim, George K Kirov, Sabine M Klauck, Lambertus Klei, James A Knowles, Martin A Kohli, Daniel L Koller, Bettina Konte, Ania Korszun, Lydia Krabbendam, Robert Krasucki, Jonna Kuntsi, Phoenix Kwan, Mikael Landén, Niklas Långström, Mark Lathrop, Jacob Lawrence, William B Lawson, Marion Leboyer, David H Ledbetter, Phil H Lee, Todd Lencz, Klaus-Peter Lesch, Douglas F Levinson, Cathryn M Lewis, Jun Li, Paul Lichtenstein, Jeffrey A Lieberman, Dan-Yu Lin, Don H Linszen, Chunyu Liu, Falk W Lohoff, Sandra K Loo, Catherine Lord, Jennifer K Lowe, Susanne Lucae, Donald J MacIntyre, Pamela A F Madden, Elena Maestrini, Patrik K E Magnusson, Pamela B Mahon, Wolfgang Maier, Anil K Malhotra, Shrikant M Mane, Christa L Martin, Nicholas G Martin, Manuel Mattheisen, Keith Matthews, Morten Mattingsdal, Steven A McCarroll, Kevin A McGhee, James J McGough, Patrick J McGrath, Peter McGuffin, Melvin G McInnis, Andrew McIntosh, Rebecca McKinney, Alan W McLean, Francis J McMahon, William M McMahon, Andrew McQuillin, Helena Medeiros, Sarah E Medland, Sandra Meier, Ingrid Melle, Fan Meng, Jobst Meyer, Christel M Middeldorp, Lefkos Middleton, Vihra Milanova, Ana Miranda, Anthony P Monaco, Grant W Montgomery, Jennifer L Moran, Daniel Moreno-De-Luca, Gunnar Morken, Derek W Morris, Eric M Morrow, Valentina Moskvina, Pierandrea Muglia, Thomas W Mühleisen, Walter J Muir, Bertram Müller-Myhsok, Michael Murtha, Richard M Myers, Inez Myin-Germeys, Michael C Neale, Stan F Nelson, Caroline M Nievergelt, Ivan Nikolov, Vishwajit Nimgaonkar, Willem A Nolen, Markus M Nöthen, John I Nurnberger, Evaristus A Nwulia, Dale R Nyholt, Colm O'Dushlaine, Robert D Oades, Ann Olincy, Guiomar Oliveira, Line Olsen, Roel A Ophoff, Urban Osby, Michael J Owen, Aarno Palotie, Jeremy R Parr, Andrew D Paterson, Carlos N Pato, Michele T Pato, Brenda W Penninx, Michele L Pergadia, Margaret A Pericak-Vance, Benjamin S Pickard, Jonathan Pimm, Joseph Piven, Danielle Posthuma, James B Potash, Fritz Poustka, Peter Propping, Vinay Puri, Digby J Quested, Emma M Quinn, Josep Antoni Ramos-Quiroga, Henrik B Rasmussen, Soumya Raychaudhuri, Karola Rehnström, Andreas Reif, Marta Ribasés, John P Rice, Marcella Rietschel, Kathryn Roeder, Herbert Roeyers, Lizzy Rossin, Aribert Rothenberger, Guy Rouleau, Douglas Ruderfer, Dan Rujescu, Alan R Sanders, Stephan J Sanders, Susan L Santangelo, Joseph A Sergeant, Russell Schachar, Martin Schalling, Alan F Schatzberg, William A Scheftner, Gerard D Schellenberg, Stephen W Scherer, Nicholas J Schork, Thomas G Schulze, Johannes Schumacher, Markus Schwarz, Edward Scolnick, Laura J Scott, Jianxin Shi, Paul D Shilling, Stanley I Shyn, Jeremy M Silverman, Susan L Slager, Susan L Smalley, Johannes H Smit, Erin N Smith, Edmund J S Sonuga-Barke, David St Clair, Matthew State, Michael Steffens, Hans-Christoph Steinhausen, John S Strauss, Jana Strohmaier, T Scott Stroup, James S Sutcliffe, Peter Szatmari, Szabocls Szelinger, Srinivasa Thirumalai, Robert C Thompson, Alexandre A Todorov, Federica Tozzi, Jens Treutlein, Manfred Uhr, Edwin J C G van den Oord, Gerard van Grootheest, Jim van Os, Astrid M Vicente, Veronica J Vieland, John B Vincent, Peter M Visscher, Christopher A Walsh, Thomas H Wassink, Stanley J Watson, Myrna M Weissman, Thomas Werge, Thomas F Wienker, Ellen M Wijsman, Gonneke Willemsen, Nigel Williams, A Jeremy Willsey, Stephanie H Witt, Wei Xu, Allan H Young, Timothy W Yu, Stanley Zammit, Peter P Zandi, Peng Zhang, Frans G Zitman, Sebastian Zöllner, Bernie Devlin, John R Kelsoe, Pamela Sklar, Mark J Daly, Michael C O'Donovan, Nicholas Craddock, Patrick F Sullivan, Jordan W Smoller, Kenneth S Kendler, Naomi R Wray.
Nat. Genet.
PUBLISHED: 02-10-2013
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Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in liability. The genetic correlation calculated using common SNPs was high between schizophrenia and bipolar disorder (0.68 ± 0.04 s.e.), moderate between schizophrenia and major depressive disorder (0.43 ± 0.06 s.e.), bipolar disorder and major depressive disorder (0.47 ± 0.06 s.e.), and ADHD and major depressive disorder (0.32 ± 0.07 s.e.), low between schizophrenia and ASD (0.16 ± 0.06 s.e.) and non-significant for other pairs of disorders as well as between psychiatric disorders and the negative control of Crohns disease. This empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
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Neurocognitive function in bipolar disorder: a comparison between bipolar I and II disorder and matched controls.
BMC Psychiatry
PUBLISHED: 01-10-2013
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Cognitive deficits have been documented in patients with bipolar disorder. Further, it has been suggested that the degree and type of cognitive impairment differ between bipolar I and bipolar II disorder, but data is conflicting and remains inconclusive. This study aimed to clarify the suggested differences in cognitive impairment between patients with bipolar I and II disorder in a relatively large, clinically stable sample while controlling for potential confounders.
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Cognitive manic symptoms in bipolar disorder associated with polymorphisms in the DAOA and COMT genes.
PLoS ONE
PUBLISHED: 01-01-2013
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Bipolar disorder is characterized by severe mood symptoms including major depressive and manic episodes. During manic episodes, many patients show cognitive dysfunction. Dopamine and glutamate are important for cognitive processing, thus the COMT and DAOA genes that modulate the expression of these neurotransmitters are of interest for studies of cognitive function.
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Cognitive manic symptoms associated with the P2RX7 gene in bipolar disorder.
Bipolar Disord
PUBLISHED: 10-25-2011
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? Several genetic loci have been suggested to be associated with bipolar disorder but results have been inconsistent. Studying associations between bipolar symptoms and candidate genes may better expose this relationship. Here we investigate the association between bipolar key symptoms and the P2RX7 gene.
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Ovarian morphology in premenstrual dysphoria.
Psychoneuroendocrinology
PUBLISHED: 09-11-2011
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Ovarian cyclicity is a prerequisite for premenstrual dysphoria (PMD), as illustrated by the fact that this condition is effectively eliminated by ovariectomy or by treatment with a GnRH agonist. Despite the possibility of differences in ovarian function between women with and without PMD, no study comparing ovarian morphology in these two groups has ever been published. Fifty-two women were recruited for this study; 26 had premenstrual dysphoria, fulfilling criteria slightly modified from those of the premenstrual dysphoric disorder, and 26 were asymptomatic age-matched controls. Ovarian morphology was assessed using transvaginal 7 MHz ultrasonography on day 5 after the start of menses, and venous blood was sampled for hormone analysis on days 3 and 8, the expected day of ovulation, and day -4 of the menstrual cycle. There were no significant differences between the groups with respect to the prevalence of polycystic ovaries (PCO), the total number of follicles, the total ovarian volume or serum levels of androgen hormones. In addition, serum free testosterone levels in late premenstrual phase showed an inverse association to premenstrual symptoms of irritability and a similar inverse association trend to symptoms of depressed mood. Unexpectedly, the prevalence of ovaries with fewer than five antral or growing follicles was significantly higher in women with PMD than in controls (p=0.016). While the results do not support a role for PCO or androgen hormones in eliciting late luteal phase irritability, the possible relationship between oligofollicular ovaries and PMD deserves further study.
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Elevation of cerebrospinal fluid interleukin-1ß in bipolar disorder.
J Psychiatry Neurosci
PUBLISHED: 07-05-2011
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In recent years, a role for the immune system in the pathogenesis of psychiatric diseases has gained increased attention. Although bipolar disorder appears to be associated with altered serum cytokine levels, a putative immunological contribution to its pathophysiology remains to be established. Hitherto, no direct analyses of cerebrospinal fluid (CSF) cytokines in patients with bipolar disorder have been performed.
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Creativity and mental disorder: family study of 300,000 people with severe mental disorder.
Br J Psychiatry
PUBLISHED: 06-08-2011
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There is a long-standing belief that creativity is coupled with psychopathology.
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Sex steroids, insulin sensitivity and sympathetic nerve activity in relation to affective symptoms in women with polycystic ovary syndrome.
Psychoneuroendocrinology
PUBLISHED: 03-31-2011
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Affective symptoms are poorly understood in polycystic ovary syndrome (PCOS). Clinical signs of hyperandrogenism and high serum androgens are key features in PCOS, and women with PCOS are more likely to be overweight or obese, as well as insulin resistant. Further, PCOS is associated with high sympathetic nerve activity.
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AKR1C4 gene variant associated with low euthymic serum progesterone and a history of mood irritability in males with bipolar disorder.
J Affect Disord
PUBLISHED: 02-02-2011
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Irritable mood during mood elevation is common in bipolar disorder. The progesterone metabolite allopregnanolone (ALLO) has been implicated in other disorders presenting with irritability. This study aimed to test whether a history of manic/hypomanic irritability is associated with low serum progesterone levels; and whether single nucleotide polymorphisms (SNPs) in gene coding for steroidogenetic enzymes (HSD3B2, SRD5A1 and AKR1C4 were coupled to previous manic irritability and/or with serum progesterone concentrations.
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Sexuality and psychological wellbeing in women with polycystic ovary syndrome compared with healthy controls.
Eur. J. Obstet. Gynecol. Reprod. Biol.
PUBLISHED: 01-12-2011
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Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders affecting women of fertile age. The aim was to study whether PCOS has an effect on sexual functioning.
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Long-term follow-up of transsexual persons undergoing sex reassignment surgery: cohort study in Sweden.
PLoS ONE
PUBLISHED: 01-09-2011
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The treatment for transsexualism is sex reassignment, including hormonal treatment and surgery aimed at making the persons body as congruent with the opposite sex as possible. There is a dearth of long term, follow-up studies after sex reassignment.
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Micrometer-sized thread-like and/or spherical particles in the first fraction of cerebrospinal fluid in patients with bipolar disorder.
Bipolar Disord
PUBLISHED: 06-23-2010
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Scanning electron microscopy (SEM) is a powerful tool to identify pathogenic factors for which sensitive tests are lacking. The technique has been used to recognize structures in the cerebrospinal fluid (CSF) of patients with schizophrenia. The aim of this study was to use SEM to screen for potential particles in CSF in bipolar disorder.
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Elevated levels of kynurenic acid in the cerebrospinal fluid of patients with bipolar disorder.
J Psychiatry Neurosci
PUBLISHED: 04-28-2010
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Patients with schizophrenia show elevated brain levels of the neuroactive tryptophan metabolite kynurenic acid (KYNA). This astrocyte-derived mediator acts as a neuroprotectant and modulates sensory gating and cognitive function. We measured the levels of KYNA in the cerebrospinal fluid (CSF) of patients with bipolar disorder and healthy volunteers to investigate the putative involvement of KYNA in bipolar disorder.
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Mutation screening of melatonin-related genes in patients with autism spectrum disorders.
BMC Med Genomics
PUBLISHED: 04-08-2010
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One consistent finding in autism spectrum disorders (ASD) is a decreased level of the pineal gland hormone melatonin and it has recently been demonstrated that this decrease to a large extent is due to low activity of the acetylserotonin O-methyltransferase (ASMT), the last enzyme in the melatonin synthesis pathway. Moreover, mutations in the ASMT gene have been identified, including a splice site mutation, that were associated with low ASMT activity and melatonin secretion, suggesting that the low ASMT activity observed in autism is, at least partly, due to variation within the ASMT gene.
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Childrens Global Assessment Scale (CGAS) in a naturalistic clinical setting: Inter-rater reliability and comparison with expert ratings.
Psychiatry Res
PUBLISHED: 02-04-2010
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The Childrens Global Assessment Scale (CGAS) is a tool to assess the overall level of functioning of children in Child and Adolescent Mental Health Services (CAMHS). Even though the use of this rating scale requires trained raters, it is commonly deployed without prior training in clinical settings. The aim of this study was to investigate the reliability and the agreement of CGAS ratings with an expert rating, in a clinical setting with untrained raters. Five experienced clinicians rated five vignettes to provide expert ratings. These vignettes were then rated by 703 health-care professionals representing 33 Swedish CAMHS. The health-care professionals rated the vignettes significantly higher (showing better global functioning) than the expert ratings. There was a wide range between the minimum and maximum ratings. The intraclass correlation coefficient was 0.73, which indicates moderate inter-rater reliability. Neither clinical experience nor earlier experience of using CGAS influenced the agreement with the expert ratings. The inter-rater reliability is moderate when CGAS is used in a clinical setting with untrained raters. Further, the untrained raters differed substantially from the experts. This stresses the importance of proper training in conjunction with the introduction of new rating scales.
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Lower CSF HVA and 5-HIAA in bipolar disorder type 1 with a history of childhood ADHD.
J Neural Transm
PUBLISHED: 05-27-2009
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Bipolar disorder with childhood attention-deficit hyperactivity disorder (ADHD) is a subphenotype characterized by earlier age of onset, more frequent mood episodes, more suicide attempts, and more interpersonal violence than pure bipolar patients. The aim of this study was to test the biological validity of using childhood ADHD to subgroup bipolar disorder. The monoamine metabolites, homovanillinic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA) and 3-methoxy-4-hydroxyphenylglycol (MHPG) were determined in the cerebrospinal fluid (CSF) of 53 euthymic patients with bipolar disorder type 1, with (N = 17) and without (N = 36) a history of childhood ADHD. In addition to structured clinical interviews, childhood ADHD was assessed by a next of kin using the Autism-Tics, ADHD and other comorbidities questionnaire (A-TAC), and by patients themselves using the Wender Utah rating scale (WURS-25). Current ADHD symptoms were assessed by the Brown attention-deficit disorder scale (Brown ADD). Bipolar patients with childhood ADHD had significantly lower CSF concentration (mean +/- SD nmol/l) of HVA (89.0 +/- 32.5 vs. 115.8 +/- 47.1, P = 0.039) and 5-HIAA (88.7 +/- 38.5 vs. 116 +/- 47.9, P = 0.021) than pure bipolar patients. CSF MHPG did not differ between the groups. The WURS-25 score correlated negatively with both HVA (r = -0.27, P = 0.048) and 5-HIAA (r = -0.30, P = 0.027). Likewise, the Brown ADD total score correlated negatively with both HVA (r = -0.34, P = 0.013) and 5-HIAA (r = -0.35, P = 0.011). These findings indicate different monoaminergic function in patients with and without childhood ADHD in bipolar disorder type 1. This lends biological support to the notion that those with childhood ADHD represent a valid subphenotype of bipolar disorder.
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Influence of androgen receptor repeat polymorphisms on personality traits in men.
J Psychiatry Neurosci
PUBLISHED: 05-19-2009
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Testosterone has been attributed importance for various aspects of behaviour. The aim of our study was to investigate the potential influence of 2 functional polymorphisms in the amino terminal of the androgen receptor on personality traits in men.
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Short onset of action of a serotonin reuptake inhibitor when used to reduce premenstrual irritability.
Neuropsychopharmacology
PUBLISHED: 03-31-2009
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Several studies suggest that serotonin reuptake inhibitors (SRIs) exert a more rapid effect when used for the treatment of symptoms such as anger and irritability then when used for depression, obsessive-compulsive disorder, or anxiety. In line with this, premenstrual irritability can be effectively dampened by intermittent administration of an SRI, from ovulation to menstruation, indicating an onset of action of 10 days or less. How fast this effect appears, in terms of hours or days, is of considerable theoretical interest, but has previously not been studied in detail. To explore this issue, 22 women with marked premenstrual irritability, who previously had responded to paroxetine, were given this compound during two menstrual cycles and placebo during one cycle in a double-blind, cross-over fashion. The women were asked to start medication in the midst of the luteal phase when irritability had been intense for 2 days. The paroxetine cycles differed significantly from the placebo cycle as early as 14 h after drug intake with respect to the number of subjects experiencing sustained reduction in irritability. When the different cycles were compared with respect to irritability-rating scores for each time of assessment, the difference was significant at day 3. The side effect nausea had an even more rapid onset (4 h), but usually disappeared within 4 days. To summarize, this controlled trial shows that an SRI reduces premenstrual irritability already within a few days after the onset of treatment.
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Possible association between the androgen receptor gene and autism spectrum disorder.
Psychoneuroendocrinology
PUBLISHED: 01-23-2009
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Autism is a highly heritable disorder but the specific genes involved remain largely unknown. The higher prevalence of autism in men than in women, in conjunction with a number of other observations, has led to the suggestion that prenatal brain exposure to androgens may be of importance for the development of this condition. Prompted by this hypothesis, we investigated the potential influence of variation in the androgen receptor (AR) gene on the susceptibility for autism. To this end, 267 subjects with autism spectrum disorder and 617 controls were genotyped for three polymorphisms in exon 1 of the AR gene: the CAG repeat, the GGN repeat and the rs6152 SNP. In addition, parents and affected siblings were genotyped for 118 and 32 of the cases, respectively. Case-control comparisons revealed higher prevalence of short CAG alleles as well as of the A allele of the rs6152 SNP in female cases than in controls, but revealed no significant differences with respect to the GGN repeat. Analysis of the 118 families using transmission disequilibrium test, on the other hand, suggested an association with the GGN polymorphism, the rare 20-repeat allele being undertransmitted to male cases and the 23-repeat allele being overtransmitted to female cases. Sequencing of the AR gene in 46 patients revealed no mutations or rare variants. The results lend some support for an influence of the studied polymorphisms on the susceptibility for autism, but argue against the possibility that mutations in the AR gene are common in subjects with this condition.
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Altered concentrations of amyloid precursor protein metabolites in the cerebrospinal fluid of patients with bipolar disorder.
Neuropsychopharmacology
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Bipolar disorder is a psychiatric disorder characterized by recurrent episodes of mania/hypomania and depression. Progressive cognitive dysfunction such as impairments in executive function and verbal memory is common in euthymic bipolar patients. The cerebrospinal fluid has previously been used to study neurodegenerative processes in Alzheimers disease, from which changes in three core biomarkers have emerged as indicative of degeneration: amyloid ?, total tau, and hyperphosphorylated tau. Here, neurodegeneration in bipolar disorder was investigated by assessing the association between bipolar disorder and cerebrospinal fluid biomarkers for neurodegenerative processes. Cerebrospinal fluid was obtained from 139 bipolar disorder patients and 71 healthy controls. Concentrations of total and phosphorylated tau, amyloid ?1-42, amyloid ?38/?40/?42, and the soluble forms of amyloid precursor protein were measured in patients vs controls. The concentrations of the soluble forms of amyloid precursor protein were significantly lower in bipolar patients compared with controls. The amyloid ?42/amyloid ?38 and the amyloid ?42/amyloid ?40 ratios were higher in bipolar patients than controls. There were no discernible differences in the concentrations of total/phosphorylated tau, amyloid ?1-42, or amyloid ?38/?40/?42. The concentrations of the biomarkers within the bipolar patient group were further associated with different ongoing medical treatments and diagnostic subgroups. The findings suggest that the amyloid precursor protein metabolism is altered in bipolar disorder. The results may have implications for the understanding of the pathophysiology of bipolar disorder and for the development of treatment strategies. Importantly, there were no signs of an Alzheimer-like neurodegenerative process among bipolar patients.
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Microparticles and microscopic structures in three fractions of fresh cerebrospinal fluid in schizophrenia: case report of twins.
Schizophr. Res.
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Schizophrenia is a diagnosis with a set of symptoms of aberrant psychological phenomena. Here, we discuss that there may be an imbalance of proteostasis of neurons in the brain leading to increase in membrane shedding and buildup of microparticles (MPs) appearing in the cerebrospinal fluid. The number of MPs can be determined and their phenotypes verified by size and membrane expression with flow cytometry. This is the first report of specified MPs in cerebrospinal fluid (CSF) in schizophrenia. Two 56-year-old Swedish-born female monozygotic twins of Caucasian ethnicity with onset of schizophrenia more than 30years ago were studied. Three fractions of fresh CSF were examined for microparticles by flow cytometry analysis, which measure the specific binding of antibodies to CD42a (platelet-MP; 33 GPIX), CD144 (endothelial-MP; Ve-cadherin), CD45 (leukocyte-MP; pan-leukocyte antigen) and of phosphatidylserine to lactadherin. The patients with schizophrenia displayed more phosphatidylserine-positive MPs in CSF compared with healthy control subjects. The scanning electron microscopic (SEM) structures in CSF studied over a 3-year period in twins with schizophrenia were of similar appearance at both time points. The increased number of MPs in fresh CSF may be a sign of enhanced membrane shedding in the central nervous system. Such MPs can be investigated for both human and non-human DNA, RNA and microRNA that may activate different immune signaling systems in patients with schizophrenia.
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Mental illness, suicide and creativity: 40-year prospective total population study.
J Psychiatr Res
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We previously demonstrated that patients with schizophrenia or bipolar disorder and their relatives are overrepresented in creative occupations. Here, we use a new dataset with a considerably larger sample of patients (n = 1,173,763) to survey other psychiatric diagnoses and to validate previous findings. The specific aims of this study were to i) investigate if creativity is associated with all psychiatric disorders or restricted to those with psychotic features, and ii) to specifically investigate authors in relationship to psychopathology. We conducted a nested case-control study using longitudinal Swedish total population registries, where the occurrence of creative occupations in patients and their non-diagnosed relatives was compared to that of matched population controls. Diagnoses included were schizophrenia, schizoaffective disorder, bipolar disorder, unipolar depression, anxiety disorders, alcohol abuse, drug abuse, autism, ADHD, anorexia nervosa, and completed suicide. Creative professions were defined as scientific and artistic occupations. Data were analyzed using conditional logistic regression. Except for bipolar disorder, individuals with overall creative professions were not more likely to suffer from investigated psychiatric disorders than controls. However, being an author was specifically associated with increased likelihood of schizophrenia, bipolar disorder, unipolar depression, anxiety disorders, substance abuse, and suicide. In addition, we found an association between creative professions and first-degree relatives of patients with schizophrenia, bipolar disorder, anorexia nervosa, and for siblings of patients with autism. We discuss the findings in relationship to some of the major components of creativity.
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Microscopic particles in two fractions of fresh cerebrospinal fluid in twins with schizophrenia or bipolar disorder and in healthy controls.
PLoS ONE
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Using scanning electron microscopy, microscopic structures have been identified in fresh cerebrospinal fluid (CSF) in patients with schizophrenia and bipolar disorder, but only rarely in control subjects. However, it has not been determined whether these microscopic particles represent state or trait markers, i.e. if their presence is related to clinical manifestations of the disease or if they also can be found in as yet asymptomatic individuals with a genetic liability. This question can be addressed by studying twins discordant or concordant for schizophrenia or bipolar disorder.
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Cerebrospinal fluid kynurenic acid is associated with manic and psychotic features in patients with bipolar I disorder.
Bipolar Disord
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Kynurenic acid (KYNA), an end metabolite of tryptophan degradation, antagonizes glutamatergic and cholinergic receptors in the brain. Recently, we reported elevated levels of cerebrospinal fluid (CSF) KYNA in male patients with bipolar disorder. Here, we investigate the relationship between symptomatology and the concentration of CSF KYNA in patients with bipolar I disorder.
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P2RX7: expression responds to sleep deprivation and associates with rapid cycling in bipolar disorder type 1.
PLoS ONE
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Rapid cycling is a severe form of bipolar disorder with an increased rate of episodes that is particularly treatment-responsive to chronotherapy and stable sleep-wake cycles. We hypothesized that the P2RX7 gene would be affected by sleep deprivation and be implicated in rapid cycling.
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The 2011 WPATH Standards of Care and Penile Reconstruction in Female-to-Male Transsexual Individuals.
Adv Urol
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The World Professional Association for Transgender Health (WPATH) currently publishes the Standards of Care (SOC), to provide clinical guidelines for health care of transsexual, transgender and gender non-conforming persons in order to maximize health and well-being by revealing gender dysphoria. An updated version (7th version, 2011) of the WPATH SOC is currently available. Differences between the 6th and the 7th versions of the SOC are shown; the SOC relevant to penile reconstruction in female-to-male (FtM) persons are emphasized, and we analyze how the 2011 WPATH SOC is influencing the daily practice of physicians involved in performing a penile reconstruction procedure for these patients. Depending by an individuals goals and expectations, the most appropriate surgical technique should be performed: the clinic performing penile reconstruction should be able to offer the whole range of techniques, such as: metoidioplasty, pedicle and free flaps phalloplasty procedures. The goals that physicians and health care institutions should achieve in the next years, in order to improve the care of female-to-male persons, consist in: informing in details the individuals applying for penile reconstruction about all the implications; referring specific individuals to centers capable to deliver a particular surgical technique; implementing the surgery with the most updated refinements.
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The age of olfactory bulb neurons in humans.
Neuron
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Continuous turnover of neurons in the olfactory bulb is implicated in several key aspects of olfaction. There is a dramatic decline postnatally in the number of migratory neuroblasts en route to the olfactory bulb in humans, and it has been unclear to what extent the small number of neuroblasts at later stages contributes new neurons to the olfactory bulb. We have assessed the age of olfactory bulb neurons in humans by measuring the levels of nuclear bomb test-derived (14)C in genomic DNA. We report that (14)C concentrations correspond to the atmospheric levels at the time of birth of the individuals, establishing that there is very limited, if any, postnatal neurogenesis in the human olfactory bulb. This identifies a fundamental difference in the plasticity of the human brain compared to other mammals.
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A mega-analysis of genome-wide association studies for major depressive disorder.
, Stephan Ripke, Naomi R Wray, Cathryn M Lewis, Steven P Hamilton, Myrna M Weissman, Gerome Breen, Enda M Byrne, Douglas H R Blackwood, Dorret I Boomsma, Sven Cichon, Andrew C Heath, Florian Holsboer, Susanne Lucae, Pamela A F Madden, Nicholas G Martin, Peter McGuffin, Pierandrea Muglia, Markus M Noethen, Brenda P Penninx, Michele L Pergadia, James B Potash, Marcella Rietschel, Danyu Lin, Bertram Müller-Myhsok, Jianxin Shi, Stacy Steinberg, Hans J Grabe, Paul Lichtenstein, Patrik Magnusson, Roy H Perlis, Martin Preisig, Jordan W Smoller, Kari Stefansson, Rudolf Uher, Zoltan Kutalik, Katherine E Tansey, Alexander Teumer, Alexander Viktorin, Michael R Barnes, Thomas Bettecken, Elisabeth B Binder, René Breuer, Victor M Castro, Susanne E Churchill, William H Coryell, Nick Craddock, Ian W Craig, Darina Czamara, Eco J De Geus, Franziska Degenhardt, Anne E Farmer, Maurizio Fava, Josef Frank, Vivian S Gainer, Patience J Gallagher, Scott D Gordon, Sergey Goryachev, Magdalena Gross, Michel Guipponi, Anjali K Henders, Stefan Herms, Ian B Hickie, Susanne Hoefels, Witte Hoogendijk, Jouke Jan Hottenga, Dan V Iosifescu, Marcus Ising, Ian Jones, Lisa Jones, Tzeng Jung-Ying, James A Knowles, Isaac S Kohane, Martin A Kohli, Ania Korszun, Mikael Landén, William B Lawson, Glyn Lewis, Donald Macintyre, Wolfgang Maier, Manuel Mattheisen, Patrick J McGrath, Andrew McIntosh, Alan McLean, Christel M Middeldorp, Lefkos Middleton, Grant M Montgomery, Shawn N Murphy, Matthias Nauck, Willem A Nolen, Dale R Nyholt, Michael O'Donovan, Högni Oskarsson, Nancy Pedersen, William A Scheftner, Andrea Schulz, Thomas G Schulze, Stanley I Shyn, Engilbert Sigurdsson, Susan L Slager, Johannes H Smit, Hreinn Stefansson, Michael Steffens, Thorgeir Thorgeirsson, Federica Tozzi, Jens Treutlein, Manfred Uhr, Edwin J C G van den Oord, Gerard van Grootheest, Henry Völzke, Jeffrey B Weilburg, Gonneke Willemsen, Frans G Zitman, Benjamin Neale, Mark Daly, Douglas F Levinson, Patrick F Sullivan.
Mol. Psychiatry
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Prior genome-wide association studies (GWAS) of major depressive disorder (MDD) have met with limited success. We sought to increase statistical power to detect disease loci by conducting a GWAS mega-analysis for MDD. In the MDD discovery phase, we analyzed more than 1.2 million autosomal and X chromosome single-nucleotide polymorphisms (SNPs) in 18?759 independent and unrelated subjects of recent European ancestry (9240 MDD cases and 9519 controls). In the MDD replication phase, we evaluated 554 SNPs in independent samples (6783 MDD cases and 50?695 controls). We also conducted a cross-disorder meta-analysis using 819 autosomal SNPs with P<0.0001 for either MDD or the Psychiatric GWAS Consortium bipolar disorder (BIP) mega-analysis (9238 MDD cases/8039 controls and 6998 BIP cases/7775 controls). No SNPs achieved genome-wide significance in the MDD discovery phase, the MDD replication phase or in pre-planned secondary analyses (by sex, recurrent MDD, recurrent early-onset MDD, age of onset, pre-pubertal onset MDD or typical-like MDD from a latent class analyses of the MDD criteria). In the MDD-bipolar cross-disorder analysis, 15 SNPs exceeded genome-wide significance (P<5 × 10(-8)), and all were in a 248?kb interval of high LD on 3p21.1 (chr3:52?425?083-53?822?102, minimum P=5.9 × 10(-9) at rs2535629). Although this is the largest genome-wide analysis of MDD yet conducted, its high prevalence means that the sample is still underpowered to detect genetic effects typical for complex traits. Therefore, we were unable to identify robust and replicable findings. We discuss what this means for genetic research for MDD. The 3p21.1 MDD-BIP finding should be interpreted with caution as the most significant SNP did not replicate in MDD samples, and genotyping in independent samples will be needed to resolve its status.
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Polymorphisms in AKR1C4 and HSD3B2 and differences in serum DHEAS and progesterone are associated with paranoid ideation during mania or hypomania in bipolar disorder.
Eur Neuropsychopharmacol
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Paranoia is commonly a mood-incongruent psychotic symptom of mania which may be related to dopamine dysregulation. Progesterone and its metabolite allopregnanolone (ALLO) have been found in animals to antagonize the effects of dopamine. We therefore examined serum progesterone, its endogenous antagonist DHEAS and polymorphisms of the genes coding for certain steroidogenetic enzymes (AKR1C4, HSD3B2, and SRD5A1) in 64 males and 96 females with bipolar 1 or 2 disorder with or without paranoid ideation during mood elevation. Euthymic morning serum progesterone, DHEAS and cortisol concentrations were measured in males and in premenopausal women who were in follicular phase and not taking oral contraceptives. In women only, SNPs in AKR1C4 reduced the likelihood of having exhibited paranoid ideation by circa 60%. The haplotype of all 4 SNPs in the AKR1C4 gene reduced the risk of exhibiting paranoia by 80% (OR 0.19, 95% CI 0.06-0.61, p=0.05). A history of paranoid ideation was not, however, related to progesterone or DHEAS concentration. Serum DHEAS and progesterone concentrations were lower in men who had shown paranoid ideation during mania/hypomania compared with those who had not (F=7.30, p=0.006) however this was not coupled to polymorphisms in the selected genes. The ancestral G in rs4659174 in HSD3B2 was in men associated with a lower risk of paranoid ideation (likelihood ratio ?(2) 3.97, p=0.046, OR 0.31 (95% CI 0.10-0.96)) but did not correlate with hormone concentrations. Hence, gene variants in the steroidogenetic pathway and steroids concentration differences may be involved in the susceptibility to paranoia during mood elevation.
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Serotonin transporter occupancy with TCAs and SSRIs: a PET study in patients with major depressive disorder.
Int. J. Neuropsychopharmacol.
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The aim of the present clinical positron emission tomography study was to examine if the 5-HTT is a common target, both for tricyclic antidepressants (TCAs) and selective serotonin reuptake inhibitors (SSRIs). Serotonin transporter (5-HTT) occupancy was estimated during treatment with TCA, SSRI and mirtazapine in 20 patients in remission from depression. The patients were recruited from out-patient units and deemed as responders to antidepressive treatment. The radioligand [¹¹C]MADAM was used to determine the 5-HTT binding potential. The mean 5-HTT occupancy was 67% (range 28-86%). There was no significant difference in 5-HTT occupancy between TCA (n=5) and SSRI (n=14). 5-HTT affinity correlated with the recommended clinical dose. Mirtazapine did not occupy the serotonin transporter. The results support that TCAs and SSRIs have a shared mechanism of action by inhibition of 5-HTT.
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What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

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We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

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In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.