| 1. |
- Ayeni, O. R., et al.
(författare)
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Clinical and Radiographic Criteria Define "Acceptable" Surgical Correction of Hip Femoroacetabular Impingement Syndrome as Well as Postoperative Complications: An International Modified Delphi Study
- 2023
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Ingår i: Arthroscopy-the Journal of Arthroscopic and Related Surgery. - : Elsevier BV. - 0749-8063. ; 39:5, s. 1198-1210
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: To develop recommendations for clinical and radiographic criteria to help define the "acceptable" surgical correction of femoroacetabular impingement syndrome (FAIS) and identify/define complications postoperatively. Methods: A 3-phase modified Delphi study was conducted involving a case-based survey; a Likert/multiple choice-based survey concerning radiographic and physical examination characteristics to help define FAIS correction, as well as the prevalence and definition of potential postoperative complications; and 2 consensus meetings. Results: Of the 75 experts invited, 54 completed the Phase I survey, 50 completed the Phase II survey (72% and 67% response rate), and 50 participated in the Phase III consensus meetings. For both typical and atypical (complex) cases, there was consensus that fluoroscopy with multiple views and dynamic hip assessment should be used intraoperatively (96% and 100%, respectively). For typical FAIS cases, the Expert Panel agreed that Dunn lateral and anteroposterior radiographs were the most important radiographs to evaluate the hip postoperatively (88%, consensus). When asked about evaluating the correction of cam impingement postoperatively, 87% voted that they use subjective evaluation of the "sphericity" of the femoral head. In the case of focal and global pincer-type FAIS, there was consensus that the reduction or elimination of the crossover sign (84%) and lateral center-edge angle (91%) were important to inform the extent of the FAIS correction. There was consensus for recommending further investigation at 6 months postoperatively if hip pain had increased/plateaued (92% agreed); that additional investigation and treatment should occur between 6 and 12 months (90% agreed); and that a reoperation may be recommended at 12 months or later following this investigation period (89% agreed). Conclusions: This consensus project identified the importance of using fluoroscopy and dynamic hip assessment intraoperatively; Dunn lateral and anteroposterior view radiographs postoperatively; evaluating the "sphericity" of the femoral head for cam-type correction and the use of dynamic hip assessment; reducing/eliminating the crossover sign for focal pincertype FAIS; evaluating the lateral center-edge angle for global pincer-type FAIS; and avoiding overcorrection of pincer-type FAIS. In cases in which postoperative hip pain increased/plateaued, further investigation and treatment is warranted between 6 and 12 months, and a reoperation may be recommended at a minimum of 12 months depending on the cause of the hip pain. Clinical Relevance: Hip arthroscopy surgeons have yet to reach a firm agreement on what constitutes an "acceptable" or "good" surgery radiographically and how they can achieve desired clinical outcomes. Although this was a comprehensive effort, more study is needed to determine therapeutic thresholds that can be universally applied.
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| 2. |
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| 3. |
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| 4. |
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| 5. |
- Bain, C. D., et al.
(författare)
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Complexes of surfactants with oppositely charged polymers at surfaces and in bulk
- 2010
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Ingår i: Advances in Colloid and Interface Science. - : Elsevier BV. - 0001-8686 .- 1873-3727. ; 155:1-2, s. 32-49
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Tidskriftsartikel (refereegranskat)abstract
- Addition of surfactants to aqueous solutions of polyelectrolytes carrying an opposite charge causes the spontaneous formation of complexes in the bulk phase in certain concentration ranges. Under some conditions, compact monodisperse multichain complexes are obtained in the bulk. The size of these complexes depends on the mixing procedure and it can be varied in a controlled way from nanometers up to micrometers. The complexes exhibit microstructures analoguous to those of the precipitates formed at higher concentrations. In other cases, however, the bulk complexes are large, soft and polydisperse. In most cases, the dispersions are only kinetically stable and exhibit pronounced non-equilibrium features. Association at air-water interfaces readily occurs, even at very small concentrations. When the surfactant concentration is small, the surface complexes are usually made of a surfactant monolayer to which the polymer binds and adsorbs in a flat-like configuration. However, under some conditions, thicker layers can be found, with bulk complexes sticking to the surface. The association at solid-water interfaces is more complex and depends on the specific interactions between surfactants, polymers and the surface. However, the behaviour can be understood if distinctions between hydrophilic surfaces and hydrophobic surfaces are made. Note that the behaviour at air-water interfaces is closer to that of hydrophobic than that of hydrophilic solid surfaces. The relation between bulk and surface complexation will be discussed in this review. The emphasis will be given to the results obtained by the teams of the EC-funded Marie Curie RTN "SOCON".
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| 6. |
- Cárdenas, Marité, et al.
(författare)
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SANS study of the interactions among DNA, a cationic surfactant, and polystyrene latex particles
- 2005
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Ingår i: Langmuir. - : American Chemical Society (ACS). - 0743-7463 .- 1520-5827. ; 21:8, s. 3578-3583
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Tidskriftsartikel (refereegranskat)abstract
- The compaction of DNA by a cationic surfactant both in the bulk and adsorbed on the surface of latex particles was followed for the first time by SANS. In the bulk, a decrease in the overall size of the DNA coil in the presence of the cationic surfactant was observed at a negative-to-positive charge ratio far below the phase separation region, at a negative-to-positive charge ratio of 18. Additionally, large surfactant aggregates seem to form within the DNA-surfactant complex. On the other hand, DNA adsorbs onto the surface of latex particles, forming a thick layer, as evidenced by the fitting of the SANS data to a core-shell form factor. Addition of a cationic surfactant to the DNA-coated latex particles at a negative-to-positive charge ratio of 38 induces a slight decrease in the size of the particle layer, where the cationic surfactant is evenly distributed within the adsorbed layer. A further decrease of the negative-to-positive charge ratio to 18 induces a dramatic change in the SANS data that suggests significant compaction of the adsorbed layer and the formation of large surfactant aggregates, similar to those detected in the bulk.
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| 7. |
- Dabkowska, A. P., et al.
(författare)
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Temperature responsive lipid liquid crystal layers with embedded nanogels
- 2017
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Ingår i: Chemical Communications. - : Royal Society of Chemistry. - 1359-7345 .- 1364-548X. ; 53:8, s. 1417-1420
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Tidskriftsartikel (refereegranskat)abstract
- Polymer nanogels are embedded within layers consisting of a nonlamellar liquid crystalline lipid phase to act as thermoresponsive controllers of layer compactness and hydration. As the nanogels change from the swollen to the collapsed state via a temperature trigger, they enable on-demand release of water from the mixed polymer-lipid layer while the lipid matrix remains intact. Combining stimuli-responsive polymers with responsive lipid-based mesophase systems opens up new routes in biomedical applications such as functional biomaterials, bioanalysis and drug delivery.
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| 8. |
- Kragelund, C., et al.
(författare)
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Scandinavian fellowship for oral pathology and oral medicine : guidelines for oral pathology and oral medicine in the dental curriculum
- 2012
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Ingår i: European journal of dental education. - Hoboken : Wiley-Blackwell. - 1396-5883 .- 1600-0579. ; 16:4, s. 246-253
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Tidskriftsartikel (refereegranskat)abstract
- In Scandinavia, as in many European countries, most patients consult their general dentist once a year or more. This gives the dentist a unique opportunity and an obligation to make an early diagnosis of oral diseases, which is beneficial for both the patient and the society. Thus, the dentist must have knowledge of clinical symptoms, local and systemic signs and clinical differential diagnoses to make an accurate diagnosis. The dentist must be competent in selecting appropriate diagnostic tests, for example, tissue biopsy and microbiological samples, and conducting them correctly, as well as in interpreting test results and taking appropriate action accordingly. Furthermore, the dentist must be aware of diseases demanding multidisciplinary cooperation and be able to recognise his/her professional limitation, and to refer to other specialists when required. The dental curriculum changes over time as new approaches, treatments and diagnostic possibilities develop. Likewise, the role of the dentist in the community changes and may vary in different countries. As members of the Scandinavian Fellowship for Oral Pathology and Oral Medicine and subject representatives of oral pathology and oral medicine, we feel obliged to contribute to the discussion of how the guidelines of the dental curriculum support the highest possible standards of dental education. This article is meant to delineate a reasonable standard of oral pathology and oral medicine in the European dental curriculum and to guide subject representatives in curriculum development and planning. We have created an advisory topic list in oral pathology and oral medicine.
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| 9. |
- Kragelund, C, et al.
(författare)
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Scandinavian fellowship for oral pathology and oral medicine : statement on oral pathology and oral medicine in the European dental curriculum
- 2010
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Ingår i: Journal of Oral Pathology & Medicine. - : Wiley. - 0904-2512 .- 1600-0714. ; 39:10, s. 800-801
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: For many years, dentists have migrated between the Scandinavian countries without an intentionally harmonized dental education. The free movement of the workforce in the European Union has clarified that a certain degree of standardization or harmonization of the European higher education acts, including the dental education, is required. As a result of the Bologna process, the Association for Dental Education in Europe and the thematic network DentEd have generated guidelines in the document 'Profile and Competences for the European Dentist' (PCD). This document is meant to act as the leading source in revisions of dental curricula throughout Europe converging towards a European Dental Curriculum. In order to render the best conditions for future curriculum revisions providing the best quality dentist we feel obliged to analyse and comment the outlines of oral pathology and oral medicine in the PCD.METHODS: The representatives agreed upon definitions of oral pathology and oral medicine, and competences in oral pathology and oral medicine that a contemporary European dentist should master. The competences directly related to oral pathology and oral medicine were identified, within the PCD.RESULTS: The subject representatives suggested eighteen additions and two rewordings of the PCD, which all were substantiated by thorough argumentation.PERSPECTIVES: Hopefully, this contribution will find support in future revisions of the PCD in order to secure the best quality dental education.
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| 10. |
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| 11. |
- Lindblad, K, et al.
(författare)
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Two commonly expanded CAG/CTG repeat loci : involvement in affectivedisorders?
- 1998
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Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 3:5, s. 405-410
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Tidskriftsartikel (refereegranskat)abstract
- An association between bipolar affective disorder and CAG/CTG trinucleotide repeat expansions (TRE) has previously been detected using the repeat expansion detection (RED) method. Here we report that 89% of RED products (CAG/CTG repeats) > 120 nt (n = 202) detected in affective disorder patients as well as unaffected family members and controls correlate with expansions at two repeat loci, ERDA1 on chromosome 17q21.3 and CTG18.1 on 18q21.1. In a set of patients and controls in which we had previously found a significant difference in RED size distribution, the frequency of expansions at the CTG18.1 locus was 13% in bipolar patients (n = 60) and 5% in controls (n = 114) (P < 0.07) with a significantly different size distribution (P < 0.03). A second set of patients were ascertained from 14 affective disorder families showing anticipation. Twelve of the families had members with RED products > 120 nt. The RED product distribution was significantly different (P < 0.0007) between affected (n = 53) and unaffected (n = 123) offspring. Using PCR, a higher frequency (P < 0.04) of CTG18.1 expansions as well as a different (P < 0.02) repeat size distribution was seen between affected and unaffected offspring. In addition, a negative correlation between RED product size and the age-of-onset could be seen in affected offspring (rs = -0.3, P = 0.05, n = 43). This effect was due to an earlier onset in individuals with long CTG18.1 expansions. No difference in ERDA1 expansion frequency was seen either between bipolar patients (35%, n = 60) and matched controls (29%, n = 114), or between affected and unaffected offspring in the families. We conclude that expanded alleles at the CTG18.1 locus confers an odds ratio of 2.6-2.8 and may thus act as a vulnerability factor for affective disorder, while the ERDA1 locus seems unrelated to disease.
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| 12. |
- Mahajan, Anubha, et al.
(författare)
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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
- 2018
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Ingår i: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 50:11, s. 1505-
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Tidskriftsartikel (refereegranskat)abstract
- We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130 European-descent individuals (9% cases), after imputation to high-density reference panels. With these data, we (i) extend the inventory of T2D-risk variants (243 loci,135 newly implicated in T2D predisposition, comprising 403 distinct association signals); (ii) enrich discovery of lower-frequency risk alleles (80 index variants with minor allele frequency <5%,14 with estimated allelic odds ratio >2); (iii) substantially improve fine-mapping of causal variants (at 51 signals, one variant accounted for >80% posterior probability of association (PPA)); (iv) extend fine-mapping through integration of tissue-specific epigenomic information (islet regulatory annotations extend the number of variants with PPA >80% to 73); (v) highlight validated therapeutic targets (18 genes with associations attributable to coding variants); and (vi) demonstrate enhanced potential for clinical translation (genome-wide chip heritability explains 18% of T2D risk; individuals in the extremes of a T2D polygenic risk score differ more than ninefold in prevalence).
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| 13. |
- Nylander, Andreas, 1988, et al.
(författare)
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Reliability investigation of a carbon nanotube array thermal interface material
- 2019
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Ingår i: Energies. - : MDPI AG. - 1996-1073 .- 1996-1073. ; 12:11
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Tidskriftsartikel (refereegranskat)abstract
- As feature density increases within microelectronics, so does the dissipated power density, which puts an increased demand on thermal management. Thermal interface materials (TIMs) are used at the interface between contacting surfaces to reduce the thermal resistance, and is a critical component within many electronics systems. Arrays of carbon nanotubes (CNTs) have gained significant interest for application as TIMs, due to the high thermal conductivity, no internal thermal contact resistances and an excellent conformability. While studies show excellent thermal performance, there has to date been no investigation into the reliability of CNT array TIMs. In this study, CNT array TIMs bonded with polymer to close a Si-Cu interface were subjected to thermal cycling. Thermal interface resistance measurements showed a large degradation of the thermal performance of the interface within the first 100 cycles. More detailed thermal investigation of the interface components showed that the connection between CNTs and catalyst substrate degrades during thermal cycling even in the absence of thermal expansion mismatch, and the nature of this degradation was further analyzed using X-ray photoelectron spectroscopy. This study indicates that the reliability will be an important consideration for further development and commercialization of CNT array TIMs.
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| 14. |
- Andersson, C A Morgan, 1965, et al.
(författare)
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Aging-in-Place: Residents’ Attitudes and Floor Plan Potential in Apartment Buildings From 1990 to 2015
- 2021
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Ingår i: HERD. - : SAGE Publications. - 2167-5112 .- 1937-5867. ; 14:4, s. 211-226
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: We investigated apartment designs in apartment blocks built 1990-2015 in Gothenburg, Sweden. We investigated the residents' attitudes toward their previous, present, and future housing and their perceived possibilities for aging-in-place. We analyzed their apartments, focusing on the possibilities for aging-in-place in future care situations concerning bedroom capacity in a care situation; spatial proximity between bathroom, bedroom, storage, and entrance; and functional autonomy in a care situation without too much disturbance for a partner. Background: Since the 2000s, the ambition in Sweden is to enable older people to remain in ordinary housing. The possibilities for aging-in-place should therefore be considered already in the design stage, also when producing standard apartments. Methods: Semi-structured interviews were made with 30 households, with one or more resident 65 years or older. Floor plan analyses were made of their present apartments. Results: The majority displayed a pragmatic attitude toward aging, high satisfaction with their present housing situation, and good chances for aging-in-place in future homecare scenarios. The floor plan analysis shows that the three concepts of bedroom capacity, spatial proximity, and functional autonomy can be used to determine the potential for aging-in-place. Conclusions: The results suggest that architectural qualities related to aging-in-place are not automatically connected to floor size or number of rooms. Small apartments can perform better than larger ones, depending on spatio-functional organization and connections between different functions. The residents' perceived chances for aging-in-place confirm this relation. Future studies should compare different locations, production periods, and relations between size, space efficiency, and accessibility.
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| 15. |
- Andersson, C A Morgan, 1965, et al.
(författare)
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Bygglov Göteborg 2017.
- 2022
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Bok (övrigt vetenskapligt/konstnärligt)abstract
- I boken finns samlat beviljade bygglov för flerbostadshus i Göteborg 2017. Författarna analyserar i boken projekten och delat in dem i typer, antal och storlekar. Här beskrivs också tendenser som identifierats i byggloven, exempelvis nya kökstyper som korridorköket och entréköket. Men även planlösningsproblematik med lägenheter där alla sovrum vetter ut mot loftgång och lägenheter med stor andel kommunikationsyta. Boken lyfter också fram de goda exemplen, föredömen, som finns i materialet. Syftet med sammanställningen är att initiera en diskussion om vad som byggs, vilka lägenhetsstorlekar, vilka typer, var i staden nya bostäder byggs, vem som bygger, vilka arkitekter som ritar och vilka arkitekturkvaliteter som framgår av planlösningarna.
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| 16. |
- Andersson, C A Morgan, 1965, et al.
(författare)
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Potential för kvarboende
- 2022
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Ingår i: Bra bostäder för seniorer. - 9789179171537 ; , s. 95-100
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Rapporten sammanfattar en bostadsstudie som genomförts 2017–2020 på Norra Älvstranden i Göteborg. Syftet med projektet har varit att undersöka möjligheterna till kvarboende för äldre personer 65+ i lägenheter byggda cirka 1990–2015. Studiens huvudfråga har varit: – vad krävs av en bostad i ett flerbostadshus för att det ska finnas möjlighet till kvarboende för äldre personer med stora behov av vård och omsorg. Forskningsfrågan är ställd mot bakgrund av utvecklingen av svensk bostadspolitik. Där framgår att bostäder byggda under 2010-talet minskar i storlek, areamässigt. Parallellt finns ambitioner inom vårdsektorn om ökat kvarboende och att bedriva mer vård i hemmet. Möjligheten att göra det är en viktig del i att minska belastningen på sjukhus och vårdcentraler. För att fånga begreppet kvarboende och hushållens attityder har forskargruppen gjort 30 intervjuer med boende i deras hem, som tillsammans med en enkät ger en bra bild över hur bostäderna används.
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| 17. |
- Andersson, C A Morgan, 1965, et al.
(författare)
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Potential för kvarboende. Sovrumskapacitet - rumslig närhet - funktionell autonomi
- 2021
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Den här rapporten sammanfattar en bostadsstudie som genomfördes 2017–2020 på Norra Älvstranden i Göteborg. Syftet med projektet har varit att undersöka möjligheterna till kvarboende för äldre personer i lägenheter byggda 1990–2015. Vad krävs av en bostad i ett flerbostadshus för att det ska finnas möjlighet till kvarboende för äldre personer med stora behov av vård och omsorg? Studiens huvudfråga är ställd mot bakgrund av utvecklingen inom svensk bostadspolitik, där bostäder byggda under 2010-talet har minskat i storlek, areamässigt. Parallellt har vårdsektorn ambitioner att bedriva mer vård i hemmet. Möjligheten att göra det är en viktig del i att minska belastningen på sjukhus och vårdcentraler. För att fånga begreppet kvarboende och hushållens attityder har forskargruppen gjort intervjuer med boende i deras hem, och tillsammans med en enkät ger det en bra bild över hur bostäderna används. Resultatet ringar in tre begrepp som är viktiga för att definiera en planlösnings potential för kvarboende: Sovrumskapacitet. Här avses tillräcklig rumslig storlek i en vårdsituation för att bedriva vård. Det krävs en fri golvyta på 300 x 310 centimeter. Rumslig närhet mellan entré, sovrum, badrum och förvaring. Rumsorganisatoriskt innebär detta att ett av sovrummen bör ligga i anslutning till entrén, med de övriga funktioner inom sex meters gångavstånd från varandra. Funktionell autonomi. Det är en vanlig situation att en person i ett parhushåll har vårdbehov, medan den andra är frisk. Det är en stor fördel om inte hela bostaden berörs av en vårdsituation. Förbindelsen mellan entré, sovrum, badrum och förvaring bör inte gå genom lägenhetens sociala rum (kök och vardagsrum). Det är också bra om det i större lägenheter finns minst ett sovrum som inte berörs av vårdsituationen. Med de tre begreppen kan kvarboendepotentialen i en planlösning beräknas och bli en tydlig faktor i diskussionen om utformningen av framtida bostäder i Sverige.
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| 18. |
- Antonelli, A, et al.
(författare)
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Tracing the impact of the Andean uplift on Neotropical plant evolution : evidence from the coffee family
- 2009
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 106:24, s. 9749-9754
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Tidskriftsartikel (refereegranskat)abstract
- Recent phylogenetic studies have revealed the major role played by the uplift of the Andes in the extraordinary diversification of the Neotropical flora. These studies, however, have typically considered the Andean uplift as a single, time-limited event fostering the evolution of highland elements. This contrasts with geological reconstructions indicating that the uplift occurred in discrete periods from west to east and that it affected different regions at different times. We introduce an approach for integrating Andean tectonics with biogeographic reconstructions of Neotropical plants, using the coffee family (Rubiaceae) as a model group. The distribution of this family spans highland and montane habitats as well as tropical lowlands of Central and South America, thus offering a unique opportunity to study the influence of the Andean uplift on the entire Neotropical flora. Our results suggest that the Rubiaceae originated in the Paleotropics and used the boreotropical connection to reach South America. The biogeographic patterns found corroborate the existence of a long-lasting dispersal barrier between the Northern and Central Andes, the "Western Andean Portal.'' The uplift of the Eastern Cordillera ended this barrier, allowing dispersal of boreotropical lineages to the South, but gave rise to a huge wetland system ("Lake Pebas'') in western Amazonia that prevented in situ speciation and floristic dispersal between the Andes and Amazonia for at least 6 million years. Here, we provide evidence of these events in plants
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| 19. |
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| 20. |
- Braide, Anna, 1964, et al.
(författare)
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Debatt – Hög tid för socialt bostadsbyggande.
- 2017
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Ingår i: Tidskriften Plan - Planering av stad och land.. - 0032-0560. ; :2017/4, s. 46-47
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 21. |
- Brändström, Sven, 1952-, et al.
(författare)
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Swedish normative data on personality using the Temperament and Character Inventory
- 1998
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Ingår i: Comprehensive Psychiatry. - 0010-440X .- 1532-8384. ; 39:3, s. 122-128
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Tidskriftsartikel (refereegranskat)abstract
- The Temperament and Character Inventory (TCI) is a self-report personality questionnaire based on Cloninger's psychobiological model of personality, which accounts for both normal and abnormal variation in the two major components of personality, temperament and character. Normative data for the Swedish TCI based on a representative Swedish sample of 1,300 adults are presented, and the psychometric properties of the questionnaire are discussed. The structure of the Swedish version replicates the American version well for the means, distribution of scores, and relationships within the between scales and subscales. Further, the Swedish inventory had a reliable factor structure and test-retest performance. The results of this study confirm the theory of temperament and character as a seven-factor model of personality.
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| 22. |
- Carlhall, C., et al.
(författare)
-
Reply [2]
- 2006
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Ingår i: American Journal of Physiology. Heart and Circulatory Physiology. - : American Physiological Society. - 0363-6135 .- 1522-1539. ; 291:5
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Annan publikation (övrigt vetenskapligt/konstnärligt)
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| 23. |
- Chotai, Jayanti, et al.
(författare)
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Anticipation in Swedish families with schizophrenia.
- 1995
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Ingår i: Psychiatric Genetics. - 0955-8829 .- 1473-5873. ; 5:4, s. 181-6
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Tidskriftsartikel (refereegranskat)abstract
- Nineteen parent-offspring pairs obtained from 14 two-generation families with available medical records and diagnosis of schizophrenia were studied to compare the ages of onset of the parent generation with those of the offspring generation. The mean age of onset for the parent generation was 37.3 +/- 6.0 years and for the offspring generation was 20.8 +/- 4.4. The mean difference was thus 16.5 +/- 6.2, suggesting the occurrence of anticipation in schizophrenia (p < 0.001). Although some ascertainment biases (like reduced fertility in early-onset parents or early detection of symptoms in offsprings of affected parents) may partially contribute to the occurrence of anticipation, this study replicates recent reports of anticipation in several neuropsychiatric disorders, some of which have been shown to be associated with unstable expansions of trinucleotide repeats in the genomic DNA.
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| 24. |
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| 25. |
- Engström, C, et al.
(författare)
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Anticipation in unipolar affective disorder.
- 1995
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Ingår i: Journal of Affective Disorders. - 0165-0327 .- 1573-2517. ; 35:1-2, s. 31-40
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Tidskriftsartikel (refereegranskat)abstract
- Anticipation describes an inheritance pattern within a pedigree with an increase in disease severity and/or decrease in age at onset in successive generations. The phenomenon of anticipation has recently been shown to be correlated with the expansion of trinucleotide repeat sequences in a neuromuscular disease, various neurodegenerative disorders and mental retardation. We have studied parent-offspring differences in age at onset and disease severity in 31 pairs with unilineal inheritance of unipolar affective disorder (UPAD). Life-table analyses showed a significant decrease in survival to 1st episode of major depression in the offspring generation compared with the parental generation (P = 0.0007). There was also a significant difference in age at onset (P < 0.001) between parents and offsprings. The offspring generation experienced onset 15.6 years earlier and illness 1.5 x more severe than did the parent generation. Furthermore, there was a significant correlation (P < 0.05) in age at onset between parent and offspring generations. When we excluded pairs where the affected parent has an age of onset greater than the age of the child at the time of ascertainment (i.e., 23 pairs left), there was still a significant (P = 0.02) decrease in age at onset (8.4 years) and 1.5 x more severe disease in the offspring generation. No evidence for specific maternal or paternal inheritance was found. We found evidence of anticipation in 75-80% of this sample of unilineal family pairs of UPAD. Anticipation is, thus, an inheritance pattern in a large group of UPAD which suggests that the expansion of trinucleotide repeat sequences is a possible mode of inheritance in this group of UPAD. The findings of anticipation in this study of families with UPAD and previous findings in families with BPAD suggest that the variable expression of unstable expansions of trinucleotide repeats may turn out to be the basis of the continuum of liability in affective disorders.
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