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31.
  • Jonsson, Lina, et al. (författare)
  • Mutation screening of melatonin-related genes in patients with autism spectrum disorders.
  • 2010
  • Ingår i: BMC medical genomics. - 1755-8794. ; 3
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: 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. METHODS: In the present study, we have investigated all the genes involved in the melatonin pathway by mutation screening of AA-NAT (arylalkylamine N-acetyltransferase), ASMT, MTNR1A, MTNR1B (melatonin receptor 1A and 1B) and GPR50 (G protein-coupled receptor 50), encoding both synthesis enzymes and the three main receptors of melatonin, in 109 patients with autism spectrum disorders (ASD). A cohort of 188 subjects from the general population was used as a comparison group and was genotyped for the variants identified in the patient sample. RESULTS: Several rare variants were identified in patients with ASD, including the previously reported splice site mutation in ASMT (IVS5+2T>C). Of the variants affecting protein sequence, only the V124I in the MTNR1B gene was absent in our comparison group. However, mutations were found in upstream regulatory regions in three of the genes investigated, ASMT, MTNR1A, and MTNR1B. CONCLUSIONS: Our report of another ASD patient carrying the splice site mutation IVS5+2T>C, in ASMT further supports an involvement of this gene in autism. Moreover, our results also suggest that other melatonin related genes might be interesting candidates for further investigation in the search for genes involved in autism spectrum disorders and related neurobehavioral phenotypes. However, further studies of the novel variants identified in this study are warranted to shed light on their potential role in the pathophysiology of these disorders.
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32.
  • Kyaga, Simon, et al. (författare)
  • Creativity and mental disorder: family study of 300 000 people with severe mental disorder.
  • 2011
  • Ingår i: The British journal of psychiatry : the journal of mental science. - 1472-1465. ; 199:5, s. 373-379
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: There is a long-standing belief that creativity is coupled with psychopathology. AIMS: To test this alleged association and to investigate whether any such association is the result of environmental or genetic factors. METHOD: We performed a nested case-control study based on Swedish registries. The likelihood of holding a creative occupation in individuals who had received in-patient treatment for schizophrenia, bipolar disorder or unipolar depression between 1973 and 2003 and their relatives without such a diagnosis was compared with that of controls. RESULTS: Individuals with bipolar disorder and healthy siblings of people with schizophrenia or bipolar disorder were overrepresented in creative professions. People with schizophrenia had no increased rate of overall creative professions compared with controls, but an increased rate in the subgroup of artistic occupations. Neither individuals with unipolar depression nor their siblings differed from controls regarding creative professions. CONCLUSIONS: A familial cosegregation of both schizophrenia and bipolar disorder with creativity is suggested.
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34.
  • Lundh, Anna, et al. (författare)
  • Outcomes of child psychiatric treatment.
  • 2013
  • Ingår i: Acta psychiatrica Scandinavica. - 1600-0447. ; 128:1, s. 34-44
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective The aim of this study was to investigate outcomes of child psychiatric outpatient treatment as usual and to identify outcome predictors, with special regard to attention-deficit/hyperactivity disorder (ADHD), mood disorder, obsessive-compulsive disorder and conduct disorder. Method Routinely collected data from 12613 outpatients between July 2006 and January 2010 in Stockholm, Sweden were analysed. The outcome measure was change in Children's Global Assessment Scale (CGAS) ratings between first visit and case closure (CGAS). Results CGAS improved during the course of treatment across all diagnostic groups, ranging from a mean change of 4 (mental retardation) to 16 (suicide attempts). CGAS was two times higher in the mood disorder group compared with the ADHD group. In the mood disorder group, several psychotherapies were associated with better outcome but not medication. In the ADHD group, psychotherapeutic interventions were also associated with better outcome, but those who received treatment with central stimulants received less non-medical interventions. Conclusion Whereas the functional impairment and the level of improvement in mood disorder corresponded to previous efficacy studies, the ADHD patients were more impaired and improved less after treatment. This should prompt a critical discussion as to whether ADHD patients receive the best available treatment in CAMHS in Stockholm and elsewhere.
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35.
  • Mobarrez, F., et al. (författare)
  • Microparticles and microscopic structures in three fractions of fresh cerebrospinal fluid in schizophrenia: Case report of twins
  • 2013
  • Ingår i: Schizophrenia Research. - 0920-9964 .- 1573-2509. ; 143:1, s. 192-197
  • Tidskriftsartikel (refereegranskat)abstract
    • 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 30 years 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. (C) 2012 Elsevier B.V. All rights reserved.
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36.
  • Månsson, Mattias, et al. (författare)
  • Sexuality and psychological wellbeing in women with polycystic ovary syndrome compared with healthy controls.
  • 2011
  • Ingår i: European journal of obstetrics, gynecology, and reproductive biology. - 1872-7654. ; 155:2, s. 161-165
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES: 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. STUDY DESIGN: Women meeting the Rotterdam criteria for PCOS (n=49), and 49 age-matched controls identified from the population registry, were recruited. Sexual functioning was assessed by means of (i) an in-person, structured interview covering various aspects of sexuality, and (ii) the nine-item McCoy questionnaire of female sexual satisfaction. Participants also completed the Psychological General Well-Being Index. RESULTS: Almost half the women with PCOS reported that the disorder had a great impact on their sex life. Despite having the same number of partners and about the same frequency of sexual intercourse, women with PCOS were generally less satisfied with their sex lives compared to the population-based controls. Within the group of women with PCOS, high body mass index had only a minor effect on sexual functioning, while the total serum level of testosterone correlated positively to sexual satisfaction. PCOS women scored numerically lower than controls on the McCoy total score, but this difference was not statistically significant. CONCLUSION: Women with PCOS reported decreased satisfaction with their sex life. Sexual function should be taken into account in treatment trials of PCOS, which traditionally target only symptoms related to insulin resistance, overweight, and hirsutism.
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37.
  • Olsson, Sara K, et al. (författare)
  • Elevated levels of kynurenic acid in the cerebrospinal fluid of patients with bipolar disorder.
  • 2010
  • Ingår i: Journal of psychiatry & neuroscience : JPN. - 1488-2434. ; 35:3, s. 195-199
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: 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. METHODS: We obtained CSF by lumbar puncture from 23 healthy men and 31 euthymic men with bipolar disorder. We analyzed the samples using high-performance liquid chromatography. RESULTS: Patients with bipolar disorder had increased levels of KYNA in their CSF compared with healthy volunteers (1.71 nM, standard error of the mean [SEM] 0.13 v. 1.13 nM, SEM 0.09; p = 0.002. The levels of KYNA were positively correlated with age among bipolar patients but not healthy volunteers. LIMITATIONS: The influence of ongoing drug treatment among patients cannot be ruled out. We conducted our study during the euthymic phase of the disease. CONCLUSION: Brain KYNA levels are increased in euthymic men with bipolar disorder. In addition, KYNA levels increased with age in these patients. These findings indicate shared mechanisms between bipolar disorder and schizophrenia. Elevated levels of brain KYNA may provide further insight to the pathophysiology and progression of bipolar disorder.
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38.
  • Power, R. A., et al. (författare)
  • Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings
  • 2013
  • Ingår i: Jama Psychiatry. - 2168-622X. ; 70:1, s. 22-30
  • Tidskriftsartikel (refereegranskat)abstract
    • Context: It is unknown how genetic variants conferring liability to psychiatric disorders survive in the Objectives: To examine the reproductive fitness of patients with schizophrenia and other psychiatric Design: We measured the fecundity of patients with schizophrenia, autism, bipolar disorder, Setting: Population databases in Sweden, including the Multi-Generation Register and the Swedish Participants: In total, 2.3million individuals among the 1950 to 1970 birth cohort in Sweden. Main Outcome Measures: Fertility ratio (FR), reflecting the mean number of children compared with Results: Except for women with depression, affected patients had significantly fewer children (FR range Conclusions: Our results suggest that strong selection exists against schizophrenia, autism, and
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39.
  • Sellgren, C, et al. (författare)
  • Validity of bipolar disorder hospital discharge diagnoses: file review and multiple register linkage in Sweden.
  • 2011
  • Ingår i: Acta psychiatrica Scandinavica. - 0001-690X. ; 124:6, s. 447-453
  • Tidskriftsartikel (refereegranskat)abstract
    • Sellgren C, Landén M, Lichtenstein P, Hultman CM, Långström N. Validity of bipolar disorder hospital discharge diagnoses: file review and multiple register linkage in Sweden. Objective:  Hospital discharge registers (HDRs) are frequently used in epidemiological research. However, the validity of several important psychiatric diagnostic entities, including bipolar disorder, remains uncertain. Hence, we aimed to develop an optimal algorithm for register-based identification of DSM-IV-TR bipolar disorder. Method:  We identified potential cases in the Swedish national HDR using two separate discharge diagnoses of bipolar disorder according to ICD versions 8-10 during January 1, 1973 to December 31, 2004. In a randomly selected subsample of 135 cases from the county of Sörmland, two senior psychiatrists reassessed the diagnostic status based on patients' medical records. We scrutinized false-positive cases and modified the initial algorithm to improve positive predictive value while minimizing false negatives. Finally, we externally validated resulting caseness algorithms by linking HDR diagnostic data with best-estimate clinical diagnoses from the National Quality Assurance Register for Bipolar Disorder (BipoläR), dispensed lithium prescriptions from the National Prescribed Drug Register, and the ICD-10 diagnoses from the National Outpatient Register respectively. Results:  The algorithm with two discharge diagnoses of bipolar disorder yielded a positive predictive value of 0.81. Modification by excluding individuals diagnosed with ICD-8 296.20 (manic-depressive psychosis, depressed type), and/or ICD-9 296.B (unipolar affective psychosis, melancholic form), gave a positive positive predictive value of 0.92. The modified algorithm also had statistically superior external validity compared with the original algorithm. Conclusion:  Our findings suggest that DSM-IV-TR bipolar disorder caseness based on two inpatient episodes with a bipolar disorder diagnosis is sufficiently sensitive and specific to be used in further epidemiological study of bipolar disorder.
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40.
  • Smoller, JW, et al. (författare)
  • Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
  • 2013
  • Ingår i: Lancet (London, England). - 1474-547X. ; 381:9875, s. 1371-1379
  • Tidskriftsartikel (refereegranskat)abstract
    • Findings from family and twin studies suggest that genetic contributions to psychiatric disorders do not in all cases map to present diagnostic categories. We aimed to identify specific variants underlying genetic effects shared between the five disorders in the Psychiatric Genomics Consortium: autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia.
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