Patsiendikeskne lähenemine psühhiaatrias

Psühhiaatria on valdkond, milles kindlate biomarkerite puudumise tõttu kasutatakse süvafenotüüpimist, sealhulgas digitaalset fenotüüpimist. Digitaalsete lahenduste kasutuselevõtt on aja jooksul suurenenud, kätkedes endas patsiendikesksust ning passiivset ja aktiivset andmekogumist nutiseadmete abil. Artiklis on antud ülevaade patsiendikesksest lähenemisest ning keskendutud peamiselt digitaalsete lahenduste tõhususele ja võimalustele

Selektiivsete serotoniini tagasihaarde inhibiitorite ravi tulemusi ennustavad tegurid

Nagu näitab praktika, ei pruugi pärast esmast ravikuuri depressioonihaige olulist paranemist ega remissiooni saabuda. Samas on igapäevases kliinilises töös üsna raske ennustada, missugune patsient reageerib ravile ja missugune mitte. Uuringus vaadeldi antidepressiivse ravi tõhusust potentsiaalselt ennustavaid tegureid, et tuvastada nende tähtsust antidepressandi valikul depressiivsetel patsientidel. Eesti Arst 2006; 85 (11): 728–73

Bupropioonravi depressiooni korral: mono- ja kombinatsioonteraapia

Bupropioon on ainus dopamiini ning noradrenaliini tagasihaarde inhibiitor, mis on näidustatud depressiivse häire ja aastaajast sõltuva meeleoluhäire raviks, olles kliiniliste uuringute põhjal niisama tõhus kui teised antidepressandid. Kakskümmend aastat kliinilist praktikat kinnitab bupropiooni ohutust ning efektiivsust, seega on ta kasutatav esimese valiku preparaadina. Üha enam tõendeid räägib ka bupropiooni kasutamise poolt juhtudel, kui depressiivne sümptomaatika serotoniini tagasihaarde inhibiitorite abil ei taandu või taandub vaid osaliselt. Mitmed uuringud kinnitavad bupropiooni eeliseid serotoninergiliste antidepressantide ees melanhoolsete sümptomite ravis. Ülevaates on keskendutud bupropioonravi eelistele depressiivsete patsientide ravis, et optimeerida selle kasutamist arstlikus praktikas. Eesti Arst 2010; 89(2):113−11

Bupropiooni augmentatsiooni toime estsitalopraamravi suhtes resistentsetel depressiivsetel patsientidel

Üha enam on andmeid, et bupropioon on üks efektiivsemaid valikuid augmentatsiooniks neil depressiivsetel patsientidel, kes serotoniini tagasihaarde inhibiitoritele reageerivad osaliselt või mitteküllaldaselt. Käesolevas uuringus jälgiti bupropiooni augmentatsiooni efektiivsust ja talutavust estsitalopraamravile mittereageerinud patsientidel. Seisundi kliinilist raskusastet ja paranemist hinnati kahenädalase intervalliga, kasutades selleks erinevaid skaalasid. Patsiendid hindasid sümptomeid ja võimalikke kõrvaltoimeid enesehinnangulistel skaaladel. Sarnaselt eelnevate uuringutega leiti, et bupropiooni augmentatsioon oli üldiselt hästi talutav ja aitas edukalt saada ravivastust enamikul serotoniini tagasihaarde inhibiitori monoteraapia suhtes resistentsetel patsientidel. Melanhoolset tüüpi depressioon oli seotud ebapiisava või osalise ravivastusega estsitalopraamile. Tulemused toetasid seisukohta, et bupropioon on esmavaliku antidepressant melanhoolse depressiooni ravis. Eesti Arst 2009; 88(2):82−9

Unedited in vivo detection and quantification of gamma-aminobutyric acid in the occipital cortex using short-TE MRS at 3 T

Short-TE MRS has been proposed recently as a method for the in vivo detection and quantification of gamma-aminobutyric acid (GABA) in the human brain at 3 T. In this study, we investigated the accuracy and reproducibility of short-TE MRS measurements of GABA at 3 T using both simulations and experiments. LCModel analysis was performed on a large number of simulated spectra with known metabolite input concentrations. Simulated spectra were generated using a range of spectral linewidths and signal-to-noise ratios to investigate the effect of varying experimental conditions, and analyses were performed using two different baseline models to investigate the effect of an inaccurate baseline model on GABA quantification. The results of these analyses indicated that, under experimental conditions corresponding to those typically observed in the occipital cortex, GABA concentration estimates are reproducible (mean reproducibility error, <20%), even when an incorrect baseline model is used. However, simulations indicate that the accuracy of GABA concentration estimates depends strongly on the experimental conditions (linewidth and signal-to-noise ratio). In addition to simulations, in vivo GABA measurements were performed using both spectral editing and short-TE MRS in the occipital cortex of 14 healthy volunteers. Short-TE MRS measurements of GABA exhibited a significant positive correlation with edited GABA measurements (R = 0.58, p < 0.05), suggesting that short-TE measurements of GABA correspond well with measurements made using spectral editing techniques. Finally, within-session reproducibility was assessed in the same 14 subjects using four consecutive short-TE GABA measurements in the occipital cortex. Across all subjects, the average coefficient of variation of these four GABA measurements was 8.7 +/- 4.9%. This study demonstrates that, under some experimental conditions, short-TE MRS can be employed for the reproducible detection of GABA at 3 T, but that the technique should be used with caution, as the results are dependent on the experimental conditions. Copyright (c) 2013 John Wiley & Sons, Ltd

Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders

Wolfram syndrome gene (WFS1) has been suggested to have a role in the susceptibility for mood disorders. A 26-fold increased risk for psychiatric disorders in WFS1 mutation carriers has been sug- gested. In this study we tested the hypothesis that the WFS1 gene is related to the risk for mood disorders. We analysed 28 single-nucleotide polymorphisms (SNPs) of the WFS1 gene in 224 unrelated patients with major depressive disorder and bipolar disorder and in 160 healthy control subjects. Patients were further stratified according to their comorbidity with anxiety disorders. We applied arrayed primer extension (APEX)-based genotyping technology followed by association and haplotype analysis. Five SNPs in the WFS1 gene were associated with major depressive disorder, and three SNPs with bipolar disorder. Haplotype analysis revealed a common GTA haplotype, formed by SNPs 684C/ G, 1185C/T and 1832G/A, conferring risk for affective disorders. Specifically, for major depression the GTA haplotype has an OR of 1.59 (p=0.01) and for bipolar disorder an OR of 1.89 (p=0.03). These results support the hypothesis that the WFS1 gene is involved in the genetic predisposition for mood disorders

Posterioorne kortikaalne atroofia – nägemishäirena avalduva varajase algusega Alzheimeri tõve haigusjuhu kirjeldus

Posterioorne kortikaalne atroofia on kliinilis-radioloogiline sündroom, mille puhul esineb süvenev nägemis-ruumilise taju ning ruumisuhete häirumine koos radioloogiliselt avalduva parietooktspitaalse atroofiaga. Sündroomi peamiseks põhjustajaks peetakse tänapäeval Alzheimeri tõbe, kuid võrreldes klassikalise Alzheimeri tõvega on patsiendid haigestudes nooremad ning haiguse algstaadiumis ei esine neil mäluhäireid. Artiklis on kirjeldatud posterioorse kortikaalse atroofiaga haigusjuhu interdistsiplinaarset käsitlust 54aastasel naispatsiendil. Kirjeldatud haigusjuht näitab, et teadmata etioloogiaga nägemishäirega patsiendil tuleks diferentsiaaldiagnostiliselt kahtlustada ka neurodegeneratiivset haigust

Association of limbic system-associated membrane protein (LSAMP) to male completed suicide

<p>Abstract</p> <p>Background</p> <p>Neuroimaging studies have demonstrated volumetric abnormalities in limbic structures of suicide victims. The morphological changes might be caused by some inherited neurodevelopmental defect, such as failure to form proper axonal connections due to genetically determined dysfunction of neurite guidance molecules. Limbic system-associated membrane protein (LSAMP) is a neuronal adhesive molecule, preferentially expressed in developing limbic system neuronal dendrites and somata. Some evidence for the association between LSAMP gene and behavior has come from both animal as well as human studies but further investigation is required. In current study, polymorphic loci in human LSAMP gene were examined in order to reveal any associations between genetic variation in <it>LSAMP </it>and suicidal behaviour.</p> <p>Methods</p> <p>DNA was obtained from 288 male suicide victims and 327 healthy male volunteers. Thirty SNPs from LSAMP gene and adjacent region were selected by Tagger algorithm implemented in Haploview 3.32. Genotyping was performed using the SNPlex™ (Applied Biosystems) platform. Data was analyzed by Genemapper 3.7, Haploview 3.32 and SPSS 13.0.</p> <p>Results</p> <p>Chi square test revealed four allelic variants (rs2918215, rs2918213, rs9874470 and rs4821129) located in the intronic region of the gene to be associated with suicide, major alleles being overrepresented in suicide group. However, the associations did not survive multiple correction test. Defining the haplotype blocks using confidence interval algorithm implemented in Haploview 3.32, we failed to detect any associated haplotypes.</p> <p>Conclusion</p> <p>Despite a considerable amount of investigation on the nature of suicidal behaviour, its aetiology and pathogenesis remain unknown. This study examined the variability in LSAMP gene in relation to completed suicide. Our results indicate that LSAMP might play a role in pathoaetiology of suicidal behaviour but further studies are needed to understand its exact contribution.</p

Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

BACKGROUND: To evaluate the presence of myocardial structural alterations and subtle myocardial dysfunction during familial screening in asymptomatic mutation carriers without hypertrophic cardiomyopathy (HCM) phenotype. METHODS AND FINDINGS: Sixteen HCM families with pathogenic mutation were studied and 46 patients with phenotype expression (Mut+/Phen+) and 47 patients without phenotype expression (Mut+/Phen-) were observed. Twenty-five control subjects, matched with the Mut+/Phen- group, were recruited for comparison. Echocardiography was performed to evaluate conventional parameters, myocardial structural alteration by calibrated integrated backscatter (cIBS) and global and segmental longitudinal strain by speckle tracking analysis. All 3 groups had similar left ventricular dimensions and ejection fraction. Basal anteroseptal cIBS was the highest in Mut+/Phen+ patients (-14.0+/-4.6 dB, p-19.0 dB basal anteroseptal cIBS or >-18.0% basal anteroseptal longitudinal strain had a sensitivity of 98% and a specificity of 72% in differentiating Mut+/Phen- group from controls. CONCLUSION: The use of cIBS and segmental longitudinal strain can differentiate HCM Mut+/Phen- patients from controls with important clinical implications for the family screening and follow-up of these patients.published_or_final_versio