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Showing 13 to 24 of 36 entries
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Diurnal Evening Type is Associated with Current Smoking, Nicotine Dependence and Nicotine Intake in the Population Based National FINRISK 2007 Study.

Journal of addiction research & therapy

Broms U, Pennanen M, Patja K, Ollila H, Korhonen T, Kankaanpää A, Haukkala A, Tuulio-Henriksson A, Koskenvuo M, Kronholm E, Laatikainen T, Peltonen M, Partonen T, Kaprio J.
PMID: 22905332
J Addict Res Ther. 2012 Jan 25; doi: 10.4172/2155-6105.s2-002.

AIMS: To examine whether smoking habits, nicotine dependence (ND) and plasma cotinine levels differ by diurnal type. DESIGN: Data originated from the national FINRISK 2007 survey. Regression analyses were calculated to examine the association between diurnal type and smoking...

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Translational vision science & technology

Tuupanen S, Gall K, Sistonen J, Saarinen I, Kämpjärvi K, Wells K, Merkkiniemi K, von Nandelstadh P, Sarantaus L, Känsäkoski J, Mårtenson E, Västinsalo H, Schleit J, Sankila EM, Kere A, Junnila H, Siivonen P, Andreevskaya M, Kytölä V, Muona M, Salmenperä P, Myllykangas S, Koskenvuo J, Alastalo TP.
PMID: 34985506
Transl Vis Sci Technol. 2022 Jan 03;11(1):6. doi: 10.1167/tvst.11.1.6.

PURPOSE: Comprehensive genetic testing for inherited retinal dystrophy (IRD) is challenged by difficult-to-sequence genomic regions, which are often mutational hotspots, such as RPGR ORF15. The purpose of this study was to evaluate the diagnostic contribution of RPGR variants in...

Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

Scientific reports

Akinrinade O, Heliö T, Lekanne Deprez RH, Jongbloed JDH, Boven LG, van den Berg MP, Pinto YM, Alastalo TP, Myllykangas S, van Spaendonck-Zwarts K, van Tintelen JP, van der Zwaag PA, Koskenvuo J.
PMID: 33037269
Sci Rep. 2020 Oct 09;10(1):17264. doi: 10.1038/s41598-020-73763-0.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.

Journal of clinical immunology

Hashem H, Bucciol G, Ozen S, Unal S, Bozkaya IO, Akarsu N, Taskinen M, Koskenvuo M, Saarela J, Dimitrova D, Hickstein DD, Hsu AP, Holland SM, Krance R, Sasa G, Kumar AR, Müller I, de Sousa MA, Delafontaine S, Moens L, Babor F, Barzaghi F, Cicalese MP, Bredius R, van Montfrans J, Baretta V, Cesaro S, Stepensky P, Benedicte N, Moshous D, Le Guenno G, Boutboul D, Dalal J, Brooks JP, Dokmeci E, Dara J, Lucas CL, Hambleton S, Wilson K, Jolles S, Koc Y, Güngör T, Schnider C, Candotti F, Steinmann S, Schulz A, Chambers C, Hershfield M, Ombrello A, Kanakry JA, Meyts I.
PMID: 34324127
J Clin Immunol. 2021 Oct;41(7):1633-1647. doi: 10.1007/s10875-021-01098-0. Epub 2021 Jul 29.

PURPOSE: Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency, lymphoproliferation, immune cytopenias, and bone marrow failure (BMF)....

Systemic Dosing of Thymosin Beta 4 before and after Ischemia Does Not Attenuate Global Myocardial Ischemia-Reperfusion Injury in Pigs.

Frontiers in pharmacology

Stark CK, Tarkia M, Kentala R, Malmberg M, Vähäsilta T, Savo M, Hynninen VV, Helenius M, Ruohonen S, Jalkanen J, Taimen P, Alastalo TP, Saraste A, Knuuti J, Savunen T, Koskenvuo J.
PMID: 27199757
Front Pharmacol. 2016 May 03;7:115. doi: 10.3389/fphar.2016.00115. eCollection 2016.

The use of cardiopulmonary bypass (CPB) and aortic cross-clamping causes myocardial ischemia-reperfusion injury (I-RI) and can lead to reduced postoperative cardiac function. We investigated whether this injury could be attenuated by thymosin beta 4 (TB4), a peptide which has...

Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.

Molecular genetics & genomic medicine

Vattulainen S, Aho J, Salmenperä P, Bruce S, Tallila J, Gentile M, Sankelo M, Laitinen T, Koskenvuo JW, Alastalo TP, Myllykangas S.
PMID: 26247051
Mol Genet Genomic Med. 2015 Jul;3(4):354-62. doi: 10.1002/mgg3.147. Epub 2015 Apr 25.

The genetic basis of pulmonary arterial hypertension (PAH) among Finnish PAH patients is poorly understood. We adopted a novel-targeted next-generation sequencing (NGS) approach called Oligonucleotide-Selective Sequencing (OS-Seq) and developed a custom data analysis and interpretation pipeline to identify pathogenic...

Job strain as a risk factor for clinical depression: systematic review and meta-analysis with additional individual participant data.

Psychological medicine

Madsen IEH, Nyberg ST, Magnusson Hanson LL, Ferrie JE, Ahola K, Alfredsson L, Batty GD, Bjorner JB, Borritz M, Burr H, Chastang JF, de Graaf R, Dragano N, Hamer M, Jokela M, Knutsson A, Koskenvuo M, Koskinen A, Leineweber C, Niedhammer I, Nielsen ML, Nordin M, Oksanen T, Pejtersen JH, Pentti J, Plaisier I, Salo P, Singh-Manoux A, Suominen S, Ten Have M, Theorell T, Toppinen-Tanner S, Vahtera J, Väänänen A, Westerholm PJM, Westerlund H, Fransson EI, Heikkilä K, Virtanen M, Rugulies R, Kivimäki M.
PMID: 28122650
Psychol Med. 2017 Jun;47(8):1342-1356. doi: 10.1017/S003329171600355X. Epub 2017 Jan 26.

BACKGROUND: Adverse psychosocial working environments characterized by job strain (the combination of high demands and low control at work) are associated with an increased risk of depressive symptoms among employees, but evidence on clinically diagnosed depression is scarce. We...

Clinical disease presentation and ECG characteristics of .

Open heart

Ollila L, Nikus K, Holmström M, Jalanko M, Jurkko R, Kaartinen M, Koskenvuo J, Kuusisto J, Kärkkäinen S, Palojoki E, Reissell E, Piirilä P, Heliö T.
PMID: 28123761
Open Heart. 2017 Jan 09;4(1):e000474. doi: 10.1136/openhrt-2016-000474. eCollection 2017.

OBJECTIVE: Mutations in the METHODS: Clinical follow-up data from 27 RESULTS: Kaplan-Meier analysis revealed no difference in event-free survival (death, heart transplant, resuscitation and appropriate implantable cardioverter-defibrillator therapy included as events) between CONCLUSIONS: Male

A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Soliani L, Spagnoli C, Salerno GG, Mehine M, Rizzi S, Frattini D, Koskenvuo J, Fusco C.
PMID: 32141982
J Neuroophthalmol. 2021 Mar 01;41(1):e85-e88. doi: 10.1097/WNO.0000000000000921.

No abstract available.

The Ullanlinna Narcolepsy Scale: validation of a measure of symptoms in the narcoleptic syndrome.

Journal of sleep research

Hublin C, Kaprio J, Partinen M, Koskenvuo M, Heikkilä K.
PMID: 10607109
J Sleep Res. 1994 Mar;3(1):52-59. doi: 10.1111/j.1365-2869.1994.tb00104.x.

The Ullanlinna Narcolepsy Scale (UNS) is a simple questionnaire-based method used to measure the symptoms of the narcoleptic syndrome. The 11-item scale (range 0-44) assesses the two main features of the narcoleptic syndrome, the abnormal sleeping tendency and cataplexy....

Study protocol for examining job strain as a risk factor for severe unipolar depression in an individual participant meta-analysis of 14 European cohorts.

F1000Research

Madsen IEH, Hannerz H, Nyberg ST, Magnusson Hanson LL, Ahola K, Alfredsson L, Batty GD, Bjorner JB, Borritz M, Burr H, Dragano N, Ferrie JE, Hamer M, Jokela M, Knutsson A, Koskenvuo M, Koskinen A, Leineweber C, Nielsen ML, Nordin M, Oksanen T, Pejtersen JH, Pentti J, Salo P, Singh-Manoux A, Suominen S, Theorell T, Toppinen-Tanner S, Vahtera J, Väänänen A, Westerholm PJM, Westerlund H, Fransson E, Heikkilä K, Virtanen M, Rugulies R, Kivimäki M.
PMID: 24627793
F1000Res. 2013 Nov 05;2:233. doi: 10.12688/f1000research.2-233.v2. eCollection 2013.

BACKGROUND: Previous studies have shown that gainfully employed individuals with high work demands and low control at work (denoted "job strain") are at increased risk of common mental disorders, including depression. Most existing studies have, however, measured depression using...

Pharmacological Treatment of Severe Breathing Abnormalities in a Case of .

Molecular syndromology

Spagnoli C, Rizzi S, Salerno GG, Frattini D, Koskenvuo J, Fusco C.
PMID: 34012379
Mol Syndromol. 2021 Apr;12(2):101-105. doi: 10.1159/000512566. Epub 2021 Jan 11.

Abnormal breathing patterns are a typical feature of Rett and Pitt-Hopkins syndrome and their variants. Their treatment can be challenging, with a risk of long-term detrimental consequences. Early infantile epileptic encephalopathy (EIEE) type 54 is a rare epileptic encephalopathy...

Showing 13 to 24 of 36 entries