BackgroundDisc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderate DD in a well-defined and characterized cohort of young adults. Focusing on young age can be valuable in determining genetic predisposition to DD.MethodsWe investigated the associations of existing candidate genes for DD among 538 young adults with a mean age of 19 belonging to the 1986 Northern Finland Birth Cohort. Nineteen single nucleotide polymorphisms (SNP) in 16 genes were genotyped. We evaluated lumbar DD using the modified Pfirrmann classification and a 1.5-T magnetic resonance scanner for imaging.ResultsOf the 538 individuals studied, 46% had no degeneration, while 54% had DD and 51% of these had moderate DD. The risk of DD was significantly higher in subjects with an allele G of IL6 SNPs rs1800795 (OR 1.45, 95% CI 1.07-1.96) and rs1800797 (OR 1.37, 95% CI 1.02-1.85) in the additive inheritance model. The role of IL6 was further supported by the haplotype analysis, which resulted in an association between the GGG haplotype (SNPs rs1800797, rs1800796 and rs1800795) and DD with an OR of 1.51 (95% CI 1.11-2.04). In addition, we observed an association between DD and two other polymorphisms, SKT rs16924573 (OR 0.27 95% CI 0.07-0.96) and CILP rs2073711 in women (OR 2.04, 95% CI 1.07-3.89).ConclusionOur results indicate that IL6, SKT and CILP are involved in the etiology of DD among young adults.
This is the first study evaluating the role of genetic factors in relation to Modic changes. Genetic variations in the IL1 cluster and the MMP3 gene together were found to be significantly associated with type II Modic changes.
This is the first observation of any prognostic genotype among sciatica patients. The IL6 haplotype GGGA predicted the number of days with back or leg pain and also sickness absence. Subjects with the IL6 haplotype may be more vulnerable when doing physically demanding jobs.
1 Lääketieteellisen kuvantamisen, fysiikan ja tekniikan tutkimusyksikkö (MIPT), Oulun yliopisto, Oulu; 2 Tuotantotalouden tutkimusyksikkö (IEM), Oulun yliopisto, Oulu; 3 Teknologian tutkimuskeskus VTT Oy; 4 Medical Research Center Oulu (MRC Oulu), Oulu; 5 Ensihoidon-ja päivystyksen vastuualue, Pohjois-Pohjanmaan sairaanhoitopiiri, Oulu; 6 Anestesiologian tutkimusryhmä, MRC, Oulun yliopistollinen sairaala ja Oulun yliopisto, Oulu; 7 Päivystysalue, Keski-Suomen sairaanhoitopiiri Mia Hautala, Lääketieteellisen kuvantamisen, fysiikan ja tekniikan tutkimusyksikkö (MIPT), PL 5000, 90014 Oulun yliopisto, FINLAND. Sähköposti: mia.hautala@outlook.com TiivistelmäEnsihoitopalvelujen tarve kasvaa sosiaali-ja terveydenhuollon palvelurakenteessa tapahtuvien uudistusten sekä väestön ikääntymisen myötä. Uusimmat teknologia-ja analytiikkaratkaisut auttavat palveluiden uudelleen organisoimisessa ja hoitopolkujen kehittämisessä. Tässä tutkimuksessa tarkastellaan tulevaisuuden yhdistettyjen terveys teknologioiden mahdollisuuksia pohjautuen asiantuntija työpajoihin liittyen ei-kiireellisiin ensihoidon tehtäviin. Tapauksen nykytilanne ja tulevaisuuden hoitopolut kuvattiin ja analysoitiin yhdessä terveysalan asiantuntijoiden, teknologiatoimittajien, tutkijoiden ja potilasnäkökulman edustajien kanssa. Kuvattu potilastapaus keskittyi kotisairaanhoidon piirissä olevaan ikääntyneeseen henkilöön, joka kärsii toistuvista virtsatieinfektioista. Tutkimuksen tuloksena löydettiin mm., että potilas tapauksiin liittyviä hoitopolkuja voidaan parantaa tukemalla hätätilanteen tunnistamista, lisäämällä terveystietämystä ja kehittämällä ratkaisuja, jotka mahdollistavat ensi-ja lääkehoidon nopeamman aloituksen sekä tehokkaamman yhteistyön potilaan, kotisairaanhoidon, sairaalan ja ensihoidon välillä. Lisäksi havaittiin, että tulevaisuudessa etämittarit mahdollistavat kotimittaustulosten nopeamman hyödyntämisen ja uusien teknologiaratkaisujen myötä tietoa on paremmin saatavilla. AbstractThe need of emergency care services increases due to reformations in health and social services and the ageing of the population. Mobile technologies, virtual communication technologies, sensor solutions and data analytics help to organize services and to develop care paths. The described patient case in this study, concentrated on the ageing woman of home care who suffered from repeated urinary tract infections. The present situation of patient case and the future care path was described and analyzed together with the healthcare professionals, technology suppliers, researchers, and patients. Based on the collected material the care paths of patient cases can be improved by increasing health knowledge, by utilizing better the remote meters, home measurement results, connected health solutions and available information, and by enabling the quicker beginning of the required medical treat-OTHER ARTICLES 11.3.2019 FinJeHeW 2019;11(1-2) 140 ments. Additionally, it was found that the existing solutions and information can be better utilized by developing the consultation center ...
Re: Virtanen IM, Karppinen J, Taimela S, et al. Occupational and genetic risk factors associated with intervertebral disc disease. Spine 2007;32:1129 -34.The terms back pain and disc degeneration are commonly used as though they are interchangeable. The study by Virtanen et al provides such an example, including the confusion that predictably results. The object of their study was "intervertebral disc disease," also referred to in this study as "IDD." Yet, IDD as related to specific symptoms is largely theoretical. The term IDD does not have a universally accepted definition, nor is it clearly measurable. Nachemson recently concluded "We still do not have diagnostic techniques that can link structural abnormalities to symptoms with any accuracy." 1 Use of the term IDD when, in fact, measuring self-reports of back and leg symptoms only muddies the water when interpreting results.Virtanen's study compared histories of back pain and presumed "sciatica" in train engineers to a control group without exposure to occupational driving. The authors noted that their findings differed from the results of the study by Battié et al 2 comparing monozygotic twin siblings, who were grossly discordant for lifetime occupational driving, where no significant differences were observed in quantitative disc signal, anular tears, bulging, or disc height narrowing based on MRI. (Herniations were more prevalent among nondrivers.) The findings of Virtanen et al neither contradict nor support these results. Virtanen et al in this work studied back-related symptoms and Battié et al studied MRI findings associated with disc degeneration.Remarkably, a second study by Kuisma et al, 3 published in the same issue of Spine, including some of the same investigators as in the Virtanen study and using similar, if not the same, train engineers and controls subjects, examined associations among occupation, back pain, and MRI findings. They did not find an association between occupational exposure and the specific MRI finding (Modic changes) that they found correlated best with back pain. These findings could be interpreted as adding support to others' findings of an absence of association between driving and associated vibration and findings of disc degeneration and pathology.It may be that imprecise pathologic diagnoses and case-definitions in this field are clouding our interpretation of available research. References 1. Schoene M. Interview with Alf L. Nachemson, MD, PhD. The BackLetter 2007;22:13-21. 2. Battié MC, Videman T, Gibbons LE, et al. 1995 Volvo Award in clinical sciences. Determinants of lumbar disc degeneration. A study relating lifetime exposures and magnetic resonance imaging findings in identical twins. Spine 1995;20:2601-12. 3. Kuisma M, Karppinen J, Niinimaki J, et al. Modic changes in endplates of lumbar vertebral bodies. Spine 2007;32:1116 -22.
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