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Sökning: WFRF:(Fransson Lina)

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1.
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2.
  • Fransson Engman, Lina (författare)
  • Kan de småskaliga kooperativen i Serbien bli framgångsrika ekologiska producenter?
  • 2009
  • Ingår i: LTJ-fakultetens faktablad.
  • Annan publikation (populärvet., debatt m.m.)abstract
    • Detta fakta-blad baseras på examensarbetet ”Can the small-scale cooperatives in Serbia be successful organic producers?” (”Kan de småskaliga kooperativen i Serbien bli framgångsrika ekologiska producenter?”) Examensarbetet utgör en del av utvärderingen av ett utvecklingsprojekt i Serbien, i biståndsorganisationen Individuell Människohjälps (IM) regi. Kooperativ har bildats för att dess medlemmar ska kunna försörja sig själva genom ekologisk odling. Grunden till uppsatsen består av en litteraturstudie, intervjuer med ledarna för kooperativen, en enkät som behandlar företagsklimatet samt olika externa källor i Serbien.
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3.
  • Fransson, Helena, et al. (författare)
  • Behandlingar av vital pulpa i tänder med djupa karieslesioner
  • 2023
  • Ingår i: Tandläkartidningen. - : Sveriges Tandläkarförbund. - 0039-6982. ; 115:2, s. 56-62
  • Tidskriftsartikel (refereegranskat)abstract
    • Vital pulpabehandling utförs för att bevara pulpans försvarsfunktioner och därmed undvika pulpektomi och rotfyllning som kan vara tekniskt krävande och inte alltid ger önskat resultat. European Society of Endodontology (ESE) har publicerat ett positionsdokument avseende vitalbehandling av tänder med djupa karieslesioner vilket delvis överensstämmer med de nationella riktlinjerna i de nordiska länderna. Det finns svårigheter när det gäller att bedöma pulpans status i tänder med djupa karieslesioner. Så länge karieslesionen inte har nått pulpan rekommenderas behandlingar som utförs för att undvika exponering av pulpan, såsom stegvis exkavering.Å andra sidan, när pulpan exponerats på grund av karies, skiljer sig rekommendationerna något åt mellan ESE och de nationella riktlinjerna i de nordiska länderna. Detta beror troligen på avsaknad av evidens som talar för fördelar av den ena behandlingen framför den andra och på grund av svårigheterna att bedöma vilka exponerade pulpor som är irreversibelt skadade. Minimalinvasiva behandlingsstrategier som använder sig av nyligen utvecklade hydrauliska kalciumsilikatcement visar lovande resultat vid vitalbehandling av pulpa. Vital pulpabehandling vidareutvecklas och förändringar i de kliniska rekommendationerna är att förvänta.
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4.
  • Fransson, Helena, et al. (författare)
  • Vitaalin pulpan hoito hampaissa, joissa on syviä kariesvaurioita
  • 2023
  • Ingår i: Suomen hammaslaakarilehti. - : Finlands tandläkarförbund. - 0355-4090. ; 30:3, s. 34-41
  • Tidskriftsartikel (refereegranskat)abstract
    • Vitaalin pulpan hoidon tarkoituksena on säilyttää pulpan puolustustoiminnot sekä välttää juurihoito, joka voi olla teknisesti haastava eikä aina onnistu toivotusti. ESE (European Society of Endodontology) on julkaissut suosituksen liittyen vitaalin pulpan hoitoon hampaissa, joissa on syviä kariesvaurioita. Suositus on osittain yhteneväinen Pohjoismaissa käytössä olevien kansallisten suositusten kanssa.Hampaissa, joissa on syviä kariesvaurioita, pulpan tilan arviointiin liittyy ratkaisemattomia kysymyksiä. Mikäli vaurio ei vielä ulotu pulpaan asti, suositellaan hoitomuotoja, joissa pulpan paljastuminen voidaan välttää, kuten vaiheittaista kariesvaurion poistoa. Tilanteessa, jossa pulpa on jo paljastunut, ESE:n ja pohjoismaisten kansallisten suositusten välillä ilmenee joitakin eroja. Syynä on todennäköisesti näytön puute sen suhteen, että jokin hoito tehoaisi muita paremmin. Lisäksi on vaikea arvioida, milloin paljastunut pulpa on vaurioitunut palautumattomasti.Mini-invasiivisilla menetelmillä, joissa hyödynnetään hiljattain kehitettyjä kalsiumsilikaattisementtejä, on saatu lupaavia tuloksia juurihoidon välttämiseen tähtäävissä vitaalin pulpan hoidoissa. Vitaalin pulpan hoitomenetelmiä kehitetään edelleen, ja kliinisiin suosituksiin on odotettavissa muutoksia.
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5.
  • Fransson, Helena, et al. (författare)
  • Vitale pulpabehandlinger i tænder med profund caries
  • 2023
  • Ingår i: Tandlægebladet. - : Tandlægeforeningen. - 0039-9353. ; 127, s. 36-44
  • Tidskriftsartikel (refereegranskat)abstract
    • Vitale pulpabehandlinger udføres med henblik på at bevare pulpas forsvarsfunktioner og undgå pulpektomi og rodfyldning, som kan være teknisk udfordrende og ikke altid fører til det ønskede resultat. The European Society of Endodontology (ESE) har publiceret en statusrapport om vital pulpabehandling i tænder med profunde carieslæsioner, som i et vist omfang stemmer overens med de nationale retningslinjer i de nordiske lande. Der er stadig problemer med at vurdere pulpas tilstand i tænder med profunde carieslæsioner. Så længe carieslæsionen ikke har nået pulpa, anbefales behandlinger, der sigter på at undgå pulpaeksponering, fx gradvis ekskavering. Men når pulpa er eksponeret på grund af caries, er der ikke overensstemmelse mellem anbefalingerne fra ESE og de nordiske landes nationale retningslinjer. Dette skyldes sandsynligvis manglende evidens for bedre effekt af én behandling frem for andre samt vanskeligheder med at afgøre, hvornår pulpa er irreversibelt beskadiget. Minimalt invasive behandlingsstrategier med nyudviklede hydrauliske calciumsilikatcementer har vist lovende resultater af vital pulpabehandling med henblik på at undgå rodkanalbehandling. Konceptet er under stadig udvikling, og man må forvente, at de kliniske anbefalinger på sigt bliver ændret. 
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6.
  • Fransson, Moa, et al. (författare)
  • The T-cell pool is anergized in patients with multiple sclerosis in remission
  • 2009
  • Ingår i: Immunology. - : Wiley. - 0019-2805 .- 1365-2567. ; 126:1, s. 92-101
  • Tidskriftsartikel (refereegranskat)abstract
    • Relapsing-remitting multiple sclerosis (RRMS) is a complex autoimmune disease of the central nervous system with oscillating phases of relapse and remission. RRMS has been considered to be driven by T helper type 1 (Th1) lymphocytes but new data indicate the involvement of Th17 responses. In the present study, blood samples from patients (n=48) and healthy individuals (n=44) were evaluated for their immunological status. T cells from patients with RRMS expressed high levels of the activation marker CD28 (P<0.05) and secreted both interferon-gamma (CD8: P<0.05) and interleukin-17 upon polyclonal mitogen or myelin oligodendrocyte glycoprotein antigen stimulation. However, T cells from patients with RRMS in remission, in contrast to relapse, had poor proliferative capacity (P<0.05) suggesting that they are controlled and kept in anergy. This anergy could be broken with CD28 stimulation that restored the T-cell replication. Furthermore, the patients with RRMS had normal levels of CD4(+) Foxp3(+) T regulatory cells but the frequency of Foxp3(+) cells lacking CD127 (interleukin-7 receptor) was lower in patients with MS (mean 12%) compared to healthy controls (mean 29%). Still, regulatory cells (CD25(+) sorted cells) from patients with RRMS displayed no difference in suppressive capacity. In conclusion, patients in relapse/remission demonstrate in vitro T-cell responses that are both Th1 and Th17 that, while in remission, appear to be controlled by tolerogenic mechanisms yet to be investigated.
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8.
  • Fransson, Thord, et al. (författare)
  • Svensk ringmärkning 2013
  • 2014
  • Ingår i: SOF 2014. Fågelåret 2013. - Halmstad : Swedish Ornithological Society. ; , s. 23-30
  • Tidskriftsartikel (populärvet., debatt m.m.)
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9.
  • Fransson, Thord, et al. (författare)
  • Svensk ringmärkning 2014
  • 2015
  • Ingår i: Fågelåret 2014. - Halmstad : Sveriges Ornitologiska Förening. ; Suppl:55, s. 25-31
  • Tidskriftsartikel (populärvet., debatt m.m.)
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10.
  • Fransson, Thord, et al. (författare)
  • Svensk ringmärkning 2015
  • 2016
  • Ingår i: Fågelåret 2015. - Halmstad : BirdLife Sverige - Sveriges Ornitologiska Förening. - 9789188124616 ; , s. 23-31
  • Bokkapitel (populärvet., debatt m.m.)
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11.
  • Fransson, Thord, et al. (författare)
  • Svensk ringmärkning 2016
  • 2016
  • Ingår i: Fågelåret 2016. - Halmstad : BirdLife Sverige - Sveriges Ornitologiska Förening. - 9789188124630 ; , s. 23-31
  • Bokkapitel (populärvet., debatt m.m.)
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12.
  • Fransson, Thord, et al. (författare)
  • Svensk ringmärkning 2017
  • 2018
  • Ingår i: Fågelåret 2017. - Halmstad : BirdLife Sverige - Sveriges Ornitologiska Förening. - 9789188124654 ; , s. 25-32
  • Bokkapitel (populärvet., debatt m.m.)
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13.
  • Fransson, Thord, et al. (författare)
  • Svensk ringmärkning 2018
  • 2019
  • Ingår i: Fågfelåret 2018. - Halmstad : Sveriges Ornitologiska Förening - Birdlife Sverige 2019. - 9789188124661 ; , s. 25-33
  • Bokkapitel (populärvet., debatt m.m.)
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14.
  • Johnson, Randi K., et al. (författare)
  • Metabolite-related dietary patterns and the development of islet autoimmunity
  • 2019
  • Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The role of diet in type 1 diabetes development is poorly understood. Metabolites, which reflect dietary response, may help elucidate this role. We explored metabolomics and lipidomics differences between 352 cases of islet autoimmunity (IA) and controls in the TEDDY (The Environmental Determinants of Diabetes in the Young) study. We created dietary patterns reflecting pre-IA metabolite differences between groups and examined their association with IA. Secondary outcomes included IA cases positive for multiple autoantibodies (mAb+). The association of 853 plasma metabolites with outcomes was tested at seroconversion to IA, just prior to seroconversion, and during infancy. Key compounds in enriched metabolite sets were used to create dietary patterns reflecting metabolite composition, which were then tested for association with outcomes in the nested case-control subset and the full TEDDY cohort. Unsaturated phosphatidylcholines, sphingomyelins, phosphatidylethanolamines, glucosylceramides, and phospholipid ethers in infancy were inversely associated with mAb+ risk, while dicarboxylic acids were associated with an increased risk. An infancy dietary pattern representing higher levels of unsaturated phosphatidylcholines and phospholipid ethers, and lower sphingomyelins was protective for mAb+ in the nested case-control study only. Characterization of this high-risk infant metabolomics profile may help shape the future of early diagnosis or prevention efforts. © 2019, The Author(s).
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15.
  • Krischer, Jeffrey P, et al. (författare)
  • Predicting Islet Cell Autoimmunity and Type 1 Diabetes : An 8-Year TEDDY Study Progress Report
  • 2019
  • Ingår i: Diabetes Care. - : American Diabetes Association. - 1935-5548 .- 0149-5992. ; 42:6, s. 1051-1060
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: Assessment of the predictive power of The Environmental Determinants of Diabetes in the Young (TEDDY)-identified risk factors for islet autoimmunity (IA), the type of autoantibody appearing first, and type 1 diabetes (T1D).RESEARCH DESIGN AND METHODS: A total of 7,777 children were followed from birth to a median of 9.1 years of age for the development of islet autoantibodies and progression to T1D. Time-dependent sensitivity, specificity, and receiver operating characteristic (ROC) curves were calculated to provide estimates of their individual and collective ability to predict IA and T1D.RESULTS: HLA genotype (DR3/4 vs. others) was the best predictor for IA (Youden's index J = 0.117) and single nucleotide polymorphism rs2476601, in PTPN22, was the best predictor for insulin autoantibodies (IAA) appearing first (IAA-first) (J = 0.123). For GAD autoantibodies (GADA)-first, weight at 1 year was the best predictor (J = 0.114). In a multivariate model, the area under the ROC curve (AUC) was 0.678 (95% CI 0.655, 0.701), 0.707 (95% CI 0.676, 0.739), and 0.686 (95% CI 0.651, 0.722) for IA, IAA-first, and GADA-first, respectively, at 6 years. The AUC of the prediction model for T1D at 3 years after the appearance of multiple autoantibodies reached 0.706 (95% CI 0.649, 0.762).CONCLUSIONS: Prediction modeling statistics are valuable tools, when applied in a time-until-event setting, to evaluate the ability of risk factors to discriminate between those who will and those who will not get disease. Although significantly associated with IA and T1D, the TEDDY risk factors individually contribute little to prediction. However, in combination, these factors increased IA and T1D prediction substantially.
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16.
  • Kuncarayakti, Hanindyo, et al. (författare)
  • SN 2017dio : A Type-Ic Supernova Exploding in a Hydrogen-rich Circumstellar Medium
  • 2018
  • Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8205 .- 2041-8213. ; 854:1
  • Tidskriftsartikel (refereegranskat)abstract
    • SN 2017dio shows both spectral characteristics of a type-Ic supernova (SN) and signs of a hydrogen-rich circumstellar medium (CSM). Prominent, narrow emission lines of H and He are superposed on the continuum. Subsequent evolution revealed that the SN ejecta are interacting with the CSM. The initial SN Ic identification was confirmed by removing the CSM interaction component from the spectrum and comparing with known SNe Ic and, reversely, adding a CSM interaction component to the spectra of known SNe Ic and comparing them to SN 2017dio. Excellent agreement was obtained with both procedures, reinforcing the SN Ic classification. The light curve constrains the pre-interaction SN Ic peak absolute magnitude to be around M-g = -17.6 mag. No evidence of significant extinction is found, ruling out a brighter luminosity required by an SN Ia classification. These pieces of evidence support the view that SN 2017dio is an SN Ic, and therefore the first firm case of an SN Ic with signatures of hydrogen-rich CSM in the early spectrum. The CSM is unlikely to have been shaped by steady-state stellar winds. The mass loss of the progenitor star must have been intense, M similar to 0.02 (epsilon(H alpha)/0.01)(-1) (nu(wind)/500 km s(-1)) (nu(shock)/10,000 km s(-1))M--3(circle dot) yr(-1), peaking at a few decades before the SN. Such a high mass-loss rate might have been experienced by the progenitor through eruptions or binary stripping.
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17.
  • Lundgren, Markus, et al. (författare)
  • Analgesic antipyretic use among young children in the TEDDY study : No association with islet autoimmunity
  • 2017
  • Ingår i: BMC Pediatrics. - : Springer Science and Business Media LLC. - 1471-2431. ; 17:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The use of analgesic antipyretics (ANAP) in children have long been a matter of controversy. Data on their practical use on an individual level has, however, been scarce. There are indications of possible effects on glucose homeostasis and immune function related to the use of ANAP. The aim of this study was to analyze patterns of analgesic antipyretic use across the clinical centers of The Environmental Determinants of Diabetes in the Young (TEDDY) prospective cohort study and test if ANAP use was a risk factor for islet autoimmunity. Methods: Data were collected for 8542 children in the first 2.5 years of life. Incidence was analyzed using logistic regression with country and first child status as independent variables. Holm's procedure was used to adjust for multiplicity of intercountry comparisons. Time to autoantibody seroconversion was analyzed using a Cox proportional hazards model with cumulative analgesic use as primary time dependent covariate of interest. For each categorization, a generalized estimating equation (GEE) approach was used. Results: Higher prevalence of ANAP use was found in the U.S. (95.7%) and Sweden (94.8%) compared to Finland (78.1%) and Germany (80.2%). First-born children were more commonly given acetaminophen (OR 1.26; 95% CI 1.07, 1.49; p = 0.007) but less commonly Non-Steroidal Anti-inflammatory Drugs (NSAID) (OR 0.86; 95% CI 0.78, 0.95; p = 0.002). Acetaminophen and NSAID use in the absence of fever and infection was more prevalent in the U.S. (40.4%; 26.3% of doses) compared to Sweden, Finland and Germany (p < 0.001). Acetaminophen or NSAID use before age 2.5 years did not predict development of islet autoimmunity by age 6 years (HR 1.02, 95% CI 0.99-1.09; p = 0.27). In a sub-analysis, acetaminophen use in children with fever weakly predicted development of islet autoimmunity by age 3 years (HR 1.05; 95% CI 1.01-1.09; p = 0.024). Conclusions: ANAP use in young children is not a risk factor for seroconversion by age 6 years. Use of ANAP is widespread in young children, and significantly higher in the U.S. compared to other study sites, where use is common also in absence of fever and infection.
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18.
  • Magnusson, Lina, et al. (författare)
  • Living as a person requiring prosthetics in Nepal
  • 2016
  • Konferensbidrag (refereegranskat)abstract
    • Background: The landlocked mountain country of Nepal has an extreme topography and is one of the poorest and least developed countries in the world. Nepal has ratified and signed the Convention on the Rights of Persons with Disabilities (CRPD). To understand what is required to improve prosthetic provision and services for persons living with an amputation in low-income countries, it is of interest to explore their experiences of ability to participate in daily life activities. Aim: The aim of this study was to explore experiences of persons requiring prosthetic services in Nepal, in relation to specific articles of the CRPD that consider mobility, education, health, rehabilitation, and work and employment.Method: Data were collected through qualitative interviews using an interview guide and an interpreter at the Green Pastures Health and Rehabilitation Centre in Pokhara, Nepal. Sixteen persons above 18 years with a lower limb amputation in the western region of Nepal were interviewed. Content analysis was applied to the data.Results: Five themes emerged during data analysis: The prosthesis is essential for mobility and daily life; The prosthesis and vocational training are essential for work; Comprehensive gait training together with other persons with amputations; Satisfied with health care but struggling with finances; and Negative self-image and varied attitudes of others.Discussion & Conclusion: Participants were limited by poverty and wanted increased independence. Rehabilitation contributed to enabling persons with amputations. Participants stressed that access to education and vocational training had the potential to improve their living situation. Lack of adjusted employment opportunities contributed to unemployment and low socio-economic status. Prostheses were essential, but more advanced technology was requested. The study population did not includepersons with amputations who had not received rehabilitation or a prosthesis, which limits generalization to all persons with amputations in Nepal.Reference: Fransson A, Andersson B, Wagle P R, Magnusson L. Living as a person requiring prosthetics in Nepal. Submitted for publication 2016.
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19.
  • Magnusson, Lina, et al. (författare)
  • Malawian prosthetic and orthotic users' mobility and satisfaction with their lower limb assistive device
  • 2013
  • Ingår i: Journal of Rehabilitation Medicine. - : Medical Journals Sweden AB. - 1650-1977 .- 1651-2081. ; 45:4, s. 385-391
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: To investigate patients’ mobility and satisfaction with their lower limb prosthetic or orthotic device and related service delivery in Malawi and to compare groups of patients regarding type and level of device and demographics.METHODS: Questionnaires were used to collect self-report data from 83 patients.RESULTS: Ninety percent of prostheses or orthoses were in use by patients, but approximately half of these needed repair. Thirty-nine percent reported pain when using their assistive device. The majority of patients were able to rise from a chair (77%), move around the home (80%), walk on uneven ground (59%) and travel by bus or car (56%). However, patients had difficulties walking up and down hills (78%) and stairs (60%). In general, patients were quite satisfied with their assistive device (mean of 3.9 out of 5) and very satisfied with the service provided (mean of 4.4 out of 5). Access to repairs and servicing were rated as most important, followed by durability and follow-up services. Lack of finances to pay for transport was a barrier to accessing the prosthetic and orthotic centre.CONCLUSION: Patients were satisfied with the assistive device and service received, despite reporting pain associated with use of the device and difficulties ambulating on challenging surfaces.
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20.
  • Magnusson, Lina, et al. (författare)
  • Malawian Prosthetic And Orthotic Users’ Performance And Satisfaction With Their Lower Limb Assistive Device
  • 2013
  • Konferensbidrag (refereegranskat)abstract
    • Introduction: This study aimed to investigate patients’ performance and satisfaction with their lower limb prosthetic or orthotic device and their satisfaction with prosthetic and orthotic service delivery in Malawi.Method: Eighty-three patients participated in the study. Questionnaires were used to collect self- reported data.Result: Ninety per cent of prosthetic and orthotic devices were in use. Patients were quite satisfied with their device (mean score of 3.9 out of 5) and very satisfied with the service provided (mean score of 4.4 out of 5). The majority of patients were able to move around the home (80%), rise from a chair (77%), walk on uneven ground (59%) and travel by bus or car (56%). Patients had difficulties or could not walk at all on; stairs (60%) and hills (79%),Thirty-nine percent reported pain when using the assistive device. Forty-eight percent of the devices were in use but needed repairs and 10 % were never used or completely broken. Access to repairs and servicing were rated by patients as most important, followed by durability of the device and follow up services. Lack of finances to pay for transport was a common barrier to accessing the prosthetic and orthotic centre.Discussion: Prosthetic and orthotic devices can be further improved in order to accommodate for ambulation on uneven surfaces, hills and stairs, as well as increasing patients’ ability to walk long distances with reduced pain.Conclusion:Patients were satisfied with the device and service received and the majority of prosthetic and orthotic patients in this study reported increased mobility when using their assistive devices. However, patients reported pain associated with use of the device and difficulties were experienced when walking in hills and on stairs. Costs associated with transport to the prosthetic and orthotic facility prevented them from receiving follow-up and repair services
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21.
  • Magnusson, Lina, et al. (författare)
  • Mobility and satisfaction with lower-limb prostheses and orthoses among users in Sierra Leone: A cross-sectional study
  • 2014
  • Ingår i: Journal of Rehabilitation Medicine. - : Medical Journals Sweden AB. - 1651-2081 .- 1650-1977. ; 46:5, s. 438-446
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives: To investigate patients' mobility and satisfaction with their lower-limb prosthetic or orthotic device and related service delivery in Sierra Leone; to compare groups of patients regarding type and level of assistive device, gender, area of residence, income; and to identify factors associated with satisfaction with the assistive device and service. Methods: A total of 139 patients answered questionnaires, including the Quebec User Evaluation of Satisfaction with Assistive Technology questionnaire (QUEST 2.0). Results: Eighty-six percent of assistive devices were in use, but half needed repair. Thirty-three percent of patients reported pain when using their assistive device. Patients had difficulties or could not walk at all on: uneven ground (65%); hills (75%); and stairs (66%). Patients were quite satisfied with their assistive device and the service (mean 3.7 out of 5 in QUEST), but reported 886 problems. Approximately half of the patients could not access services. In relation to mobility and service delivery, women, orthotic patients and patients using above-knee assistive devices had the poorest results. The general condition of the assistive device and patients' ability to walk on uneven ground were associated with satisfaction with the assistive devices and service. Conclusion: Patients reported high levels of mobility while using their device although they experienced pain and difficulties walking on challenging surfaces. Limitations in the effectiveness of assistive devices and limited access to follow-up services and repairs were issues desired to be addressed.
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22.
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23.
  • Peyrard-Janvid, Myriam, et al. (författare)
  • Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development
  • 2014
  • Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 94:1, s. 23-32
  • Tidskriftsartikel (refereegranskat)abstract
    • Mutations in interferon regulatory factor 6 (IRF6) account for similar to 70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. In 8 of 45 VWS-affected families lacking a mutation in IRF6, we found coding mutations in grainyhead-like 3 (GRHL3). According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations. In mouse, all embryos lacking Grhl3 exhibited abnormal oral periderm and 17% developed a cleft palate. Analysis of the oral phenotype of double heterozygote (Irf6(+/-);Grhl3(+/-)) murine embryos failed to detect epistasis between the two genes, suggesting that they function in separate but convergent pathways during palatogenesis. Taken together, our data demonstrated that mutations in two genes, IRF6 and GRHL3, can lead to nearly identical phenotypes of orofacial cleft. They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS.
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24.
  • Rådmark, Lina, et al. (författare)
  • Autonomic function and inflammation in pregnant women participating in a randomized controlled study of mindfulness based childbirth and parenting
  • 2023
  • Ingår i: BMC Pregnancy and Childbirth. - : BioMed Central (BMC). - 1471-2393 .- 1471-2393. ; 23:1
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Pregnancy and childbirth are significant events in many women's lives, and the prevalence of depressive symptoms increases during this vulnerable period. Apart from well documented cognitive, affective, and somatic symptoms, stress and depression are associated with physiological changes, such as reduced heart-rate variability (HRV) and activation of the inflammatory response system. Mindfulness Based Interventions may potentially have an effect on both HRV, inflammatory biomarkers, and self-assessed mental health. Therefore, the aim of this study was to assess the effects of a Mindfulness Childbirth and Parenting (MBCP) intervention on HRV, serum inflammatory marker levels, through an RCT study design with an active control group.METHODS: This study is a sub-study of a larger RCT, where significant intervention effects were found on perinatal depression (PND) and perceived stress. Participants were recruited through eight maternity health clinics in Stockholm, Sweden. In this sub-study, we included altogether 80 women with increased risk for PND, and blood samples and HRV measures were available from 60 of the participants (26 in the intervention and 34 in the control group).RESULTS: Participants who received MBCP reported a significantly larger reduction in perceived stress and a significantly larger increase in mindfulness, compared to participants who received the active control treatment. However, in this sub-study, the intervention had no significant effect on PND, inflammatory serum markers or measures of HRV.CONCLUSIONS: No significant differences were found regarding changes in HRV measures and biomarkers of inflammation, larger studies may be needed in the future.
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25.
  • Smith, Laura B., et al. (författare)
  • Psychological manifestations of celiac disease autoimmunity in young children
  • 2017
  • Ingår i: Pediatrics. - : American Academy of Pediatrics (AAP). - 0031-4005 .- 1098-4275. ; 139:3
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND AND OBJECTIVES: Psychological symptoms can be associated with celiac disease; abstract however, this association has not been studied prospectively in a pediatric cohort. We examined mother report of psychological functioning in children persistently positive for tissue transglutaminase autoantibodies (tTGA), defined as celiac disease autoimmunity (CDA), compared with children without CDA in a screening population of genetically at-risk children. We also investigated differences in psychological symptoms based on mothers' awareness of their child's CDA status. METHODS: The Environmental Determinants of Diabetes in the Young study followed 8676 children to identify triggers of type 1 diabetes and celiac disease. Children were tested for tTGA beginning at 2 years of age. The Achenbach Child Behavior Checklist assessed child psychological functioning at 3.5 and 4.5 years of age. RESULTS: At 3.5 years, 66 mothers unaware their child had CDA reported more child anxiety and depression, aggressive behavior, and sleep problems than 3651 mothers of children without CDA (all Ps ≤ .03). Unaware-CDA mothers also reported more child anxiety and depression, withdrawn behavior, aggressive behavior, and sleep problems than 440 mothers aware of their child's CDA status (all Ps ≤.04). At 4.5 years, there were no differences. CONCLUSIONS: In 3.5-year-old children, CDA is associated with increased reports of child depression and anxiety, aggressive behavior, and sleep problems when mothers are unaware of their child's CDA status. Mothers' knowledge of their child's CDA status is associated with fewer reports of psychological symptoms, suggesting that awareness of the child's tTGA test results affects reporting of symptoms.
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26.
  • Törn, Carina, et al. (författare)
  • Complement gene variants in relation to autoantibodies to beta cell specific antigens and type 1 diabetes in the TEDDY Study
  • 2016
  • Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6
  • Tidskriftsartikel (refereegranskat)abstract
    • A total of 15 SNPs within complement genes and present on the ImmunoChip were analyzed in The Environmental Determinants of Diabetes in the Young (TEDDY) study. A total of 5474 subjects were followed from three months of age until islet autoimmunity (IA: n = 413) and the subsequent onset of type 1 diabetes (n = 115) for a median of 73 months (IQR 54-91). Three SNPs within ITGAM were nominally associated (p < 0.05) with IA: rs1143678 [Hazard ratio; HR 0.80; 95% CI 0.66-0.98; p = 0.032], rs1143683 [HR 0.80; 95% CI 0.65-0.98; p = 0.030] and rs4597342 [HR 1.16; 95% CI 1.01-1.32; p = 0.041]. When type 1 diabetes was the outcome, in DR3/4 subjects, there was nominal significance for two SNPs: rs17615 in CD21 [HR 1.52; 95% CI 1.05-2.20; p = 0.025] and rs4844573 in C4BPA [HR 0.63; 95% CI 0.43-0.92; p = 0.017]. Among DR4/4 subjects, rs2230199 in C3 was significantly associated [HR 3.20; 95% CI 1.75-5.85; p = 0.0002, uncorrected] a significance that withstood Bonferroni correction since it was less than 0.000833 (0.05/60) in the HLA-specific analyses. SNPs within the complement genes may contribute to IA, the first step to type 1 diabetes, with at least one SNP in C3 significantly associated with clinically diagnosed type 1 diabetes.
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