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Ábendingar og árangur ósæðarlokuísetningar með þræðingartækni (TAVI) á Íslandi
(2021-03) Lárusdóttir, Katrín Júniána; Guðmundsson, Hjalti J.; Johnsen, Árni; Sigurðsson, Martin Ingi; Guðbjartsson, Tómas; Guomundsdóttir, Ingibjörg Jóna; Læknadeild
INNGANGUR Ósæðarlokuþrengsl eru algengasti lokusjúkdómurinn á Vesturlöndum. Hefðbundin meðferð við alvarlegum þrengslum hefur verið opin ósæðarlokuskipti en síðastliðin ár hefur ósæðarlokuísetning með þræðingartækni (TAVI) rutt sér til rúms hér á landi sem erlendis. Markmið rannsóknarinnar var að kanna árangur TAVI-aðgerða á Íslandi með áherslu á ábendingar, fylgikvilla og lifun. EFNIVIÐUR OG AÐFERÐIR Rannsóknin var afturskyggn og tók til allra TAVI-aðgerða sem framkvæmdar hafa verið á Íslandi frá janúar 2012 til loka júní 2020. Skráðir voru bakgrunnsþættir sjúklinga, afdrif og fylgikvillar en einnig heildarlifun sem borin var saman við íslenskt viðmiðunarþýði af sama kyni og aldri. Meðal eftirfylgd var 2,4 ár. NIÐURSTÖÐUR Alls voru framkvæmdar 189 aðgerðir (meðalaldur 83 ± 6 ár, 41,8% konur), allar með sjálfþenjandi lífrænni gerviloku. Flestir sjúklingar (81,5%) höfðu alvarleg hjartabilunareinkenni (NYHA-flokkar III-IV) og miðgildi EuroSCORE-II var 4,9 (bil 0,9-32). Á hjartaómskoðun fyrir aðgerð var hámarks þrýstingsfallandi að meðaltali 78 mmHg og lokuflatarmál 0,67 cm2. Rúmlega fjórðungur (26,5%) sjúklinga þurfti ísetningu varanlegs gangráðs í kjölfar TAVI-aðgerðar. Aðrir fylgikvillar voru oftast æðatengdir (13,8%), en hjartaþröng greindist í 3,2% tilfella og heilablóðfall í 2,6%. Mikill randstæður leki við gerviloku sást hjá 0,5% sjúklinga. Dánartíðni innan 30 daga frá aðgerð var 1,6% (n=3) og lifun einu ári frá aðgerðadegi 93,5% (95% ÖB: 89.8-97.3). Heildarlifun var sambærileg lifun viðmiðunarþýðis af sama kyni og sama aldri (p=0,23). ÁLYKTANIR Árangur TAVI-aðgerða hér á landi er mjög góður, ekki síst þegar litið er til lágrar 30 daga dánartíðni og heildarlifunar sem var sambærileg og hjá viðmiðunarþýði. Auk þess var tíðni alvarlegra fylgikvilla lág. INTRODUCTION: Surgical aortic valve replacement (SAVR) has been the standard of treatment for aortic stenosis but transcatheter aortic valve implantation (TAVI) is increasingly used as treatment in Iceland and elsewhere. Our objective was to assess the outcome of TAVI in Iceland, focusing on indications, complications and survival. MATERIAL AND METHODS: This retrospective study included all TAVI-procedures performed in Iceland between January 2012 and June 2020. Patient characteristics, outcome and complications were registered, and overall estimated survival compared to an age and sex matched Icelandic reference-population. The mean follow-up was 2.4 years. RESULTS: Altogether 189 TAVI procedures (mean age 83±6 years, 41.8% females), were performed, all with a self-expanding biological valve. Most patients (81.5%) had symptoms of severe heart failure (NYHA-class III-IV) and median EuroSCORE-II was 4.9 (range: 0.9-32). Echocardiography pre-TAVI showed a mean aortic-valve area of 0.67 cm2 and a max aortic-valve gradient of 78 mmHg. One out of four patients (26.5%) needed permanent pacemaker implantation following TAVI. Other complications were mostly vascular-related (13.8%) but cardiac cardiac temponade and stroke occurred in 3.2 and 2.6% of cases, respectively and severe paravalvular aortic valve regurgitation in 0.5% cases. Thirty-day mortality was 1.6% (n=3) with one-year survival of 93.5% (95% CI: 89.8-97.3). Finally long-term survival survival of TAVI-patients was similar to the matched reference population (p=0.23). CONCLUSIONS: The outcome of TAVI-procedures in Iceland is good, especially regarding 30-day mortality and long-term survival that was comparable to a reference population. Incidence of major complications was also low.
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Words as visual objects : Neural and behavioral evidence for high-level visual impairments in dyslexia
(2021-11) Sigurðardóttir, Heiða María; Ólafsdóttir, Inga María; Devillez, Hélène; Faculty of Psychology
Developmental dyslexia is defined by reading impairments that are disproportionate to intelligence, motivation, and the educational opportunities considered necessary for reading. Its cause has traditionally been considered to be a phonological deficit, where people have difficulties with differentiating the sounds of spoken language. However, reading is a multidimensional skill and relies on various cognitive abilities. These may include high-level vision—the processes that support visual recognition despite innumerable image variations, such as in viewpoint, position, or size. According to our high-level visual dysfunction hypothesis, reading problems of some people with dyslexia can be a salient manifestation of a more general deficit of high-level vision. This paper provides a perspective on how such non-phonological impairments could, in some cases, cause dyslexia. To argue in favor of this hypothesis, we will discuss work on functional neuroimaging, structural imaging, electrophysiology, and behavior that provides evidence for a link between high-level visual impairment and dyslexia.
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Role of Ursodeoxycholic Acid in Treating and Preventing Idiosyncratic Drug-Induced Liver Injury. A Systematic Review
(2021-10-27) Robles-Díaz, Mercedes; Nezic, Lana; Vujic-Aleksic, Vesna; Björnsson, Einar Stefán; Faculty of Medicine
Introduction: Treatment is generally not available for drug-induced liver injury (DILI) patients except in some specific circumstances. The management of DILI is based on the withdrawal of the responsible drug and monitoring the patients and only a few patients need to be referred to a transplant center. Some studies on the role of ursodeoxycholic acid (UDCA) in DILI have been published. The aim of this study was to perform a systematic review of the role of UDCA in the treatment and prevention of DILI. Methods: A search was undertaken in PubMed, with the key words ursodeoxycholic acid, drug-induced liver injury and hepatotoxicity following the PRISMA guidelines. Results: A total of 33 publications were identified: 25 case reports and 8 case series. In 18 of the 25 cases reports (22 patients), authors reported improvement of liver injury associated with UDCA therapy whereas 7 case reports did not show clinical or biochemical improvement after UDCA treatment. There were 4 studies evaluating the role of UDCA in the treatment of DILI, three prospective (one being a clinical trial) and one retrospective studies. Three studies observed liver profile improvements associated with UDCA. In addition, four studies evaluated UDCA in the prevention of DILI: one pilot study, two randomized clinical trials (RCT) and one retrospective study. Three of these studies observed a lower percentage of patients with an increase in transaminases in the groups that used UDCA for DILI prevention. Conclusion: According to available data UDCA seems to have some benefits in the treatment and prevention of DILI. However, the design of the published studies does not allow a firm conclusion to be drawn on the efficacy of UDCA in DILI. A well designed RCT to evaluate the role of UDCA in DILI is needed.
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Reducing intrusive memories of childhood trauma using a visuospatial intervention : Case study in iceland
(2021-11-04) Thorarinsdottir, Kristjana; Holmes, Emily A.; Hardarson, Johann; Hedinsdottir, Unnur; Kanstrup, Marie; Singh, Laura; Hauksdóttir, Arna; Halldórsdóttir, Þórhildur; Guðmundsdóttir, Berglind; Valdimarsdóttir, Unnur Anna; Þórðardóttir, Edda Björk; Gamble, Beau; Björnsson, Andri Steinþór; Faculty of Medicine; Faculty of Psychology; Health Sciences
Background: Additional interventions are needed for survivors of psychological trauma because of several barriers to and limitations of existing treatment options (eg, need to talk about the trauma in detail). Case studies are an important step in exploring the development of novel interventions, allowing detailed examination of individual responses to treatment over time. Here, we present a case study that aims to test a novel intervention designed to disrupt memory reconsolidation, taking a single-symptom approach by focusing on intrusive memories of a traumatic event. Objective: This study aims to examine a novel brief cognitive intervention to reduce the number of intrusive memories of trauma in an Icelandic setting and to extend previous studies by examining long-term effects for up to 3 months. The intervention was guided by a clinical psychologist and comprised a brief memory reminder, followed by Tetris gameplay with mental rotation, targeting one memory at a time in each session. Methods: This was a single case study in Iceland with a woman in her 50s (drawn from an epidemiological study of trauma) with subthreshold posttraumatic stress disorder and a diagnosis of obsessive-compulsive disorder and social anxiety disorder. The participant had four different intrusive memories from a traumatic event that happened in her childhood. The primary outcome was the change in the number of intrusive memories from baseline to intervention phase and to follow-ups. The number of intrusions was monitored in a daily diary for 4 weeks preintervention, 8 weeks during the intervention, and 1 week at 1-month and 3-month follow-ups. Intrusions were targeted one by one over six intervention sessions, creating four repetitions of an AB design (ie, length of baseline A and intervention phase B varied for each memory). We examined changes in both the total number of intrusions (summed across all four memories) and individually for each memory. In addition, we explored whether having fewer intrusive memories would have an impact on functioning, posttraumatic stress, and depression or anxiety symptoms. Results: The total number of intrusions per week was 12.6 at baseline, 6.1 at the intervention phase (52% reduction from baseline), 3.0 at the 1-month follow-up (76% reduction), and 1.0 at the 3-month follow-up (92% reduction). Reductions in the symptoms of posttraumatic stress and depression were observed postintervention. Sleep, concentration, stress, and functioning improved. The participant considered the gameplay intervention acceptable and helpful in that she found that the memories disappeared while she was playing. Conclusions: This guided brief cognitive intervention reduced the number of intrusive memories over the intervention phase and follow-ups. The brief memory reminder was well tolerated, removing the need to discuss trauma in detail. The next steps require an extension to more cases and exploring remote delivery of the intervention.
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Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease
(2021-11) Investigators of the Rare Kidney Stone Consortium; Faculty of Medicine
Introduction: Because of phenotypic overlap between monogenic urinary stone diseases (USD), gene-specific analyses can result in missed diagnoses. We used targeted next generation sequencing (tNGS), including known and candidate monogenic USD genes, to analyze suspected primary hyperoxaluria (PH) or Dent disease (DD) patients genetically unresolved (negative; N) after Sanger analysis of the known genes. Cohorts consisted of 285 PH (PHN) and 59 DD (DDN) families. Methods: Variants were assessed using disease-specific and population databases plus variant assessment tools and categorized using the American College of Medical Genetics (ACMG) guidelines. Prior Sanger analysis identified 47 novel PH or DD gene pathogenic variants. Results: Screening by tNGS revealed pathogenic variants in 14 known monogenic USD genes, accounting for 45 families (13.1%), 27 biallelic and 18 monoallelic, including 1 family with a copy number variant (CNV). Recurrent genes included the following: SLC34A3 (n = 13), CLDN16 (n = 8), CYP24A1 (n = 4), SLC34A1 (n = 3), SLC4A1 (n = 3), APRT (n = 2), CLDN19 (n = 2), HNF4A1 (n = 2), and KCNJ1 (n = 2), whereas ATP6V1B1, CASR, and SLC12A1 and missed CNVs in the PH genes AGXT and GRHPR accounted for 1 pedigree each. Of the 48 defined pathogenic variants, 27.1% were truncating and 39.6% were novel. Most patients were diagnosed before 18 years of age (76.1%), and 70.3% of biallelic patients were homozygous, mainly from consanguineous families. Conclusion: Overall, in patients suspected of DD or PH, 23.9% and 7.3% of cases, respectively, were caused by pathogenic variants in other genes. This study shows the value of a tNGS screening approach to increase the diagnosis of monogenic USD, which can optimize therapies and facilitate enrollment in clinical trials.

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