| 1. |
|
|
| 2. |
- Meisgen, Sabrina, et al.
(författare)
-
The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence
- 2014
-
Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 275:6, s. 640-651
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The main aim of this study was to identify foetal susceptibility genes on chromosome six for Ro/SSA autoantibody-mediated congenital heart block.SUBJECTS AND DESIGN: Single nucleotide polymorphism (SNP) genotyping of individuals in the Swedish Congenital Heart Block (CHB) study population was performed. Low-resolution HLA-A, -Cw and -DRB1 allele typing was carried out in 86 families comprising 339 individuals (86 Ro/SSA autoantibody-positive mothers, 71 fathers, 87 CHB index cases, and 95 unaffected siblings).RESULTS: A case-control comparison between index cases and population-based out-of-study controls (n=1710) revealed association of CHB with 15 SNPs in the 6p21.3 MHC locus at a chromosome-wide significance of p<2.59×10(-6) (OR 2.21-3.12). In a family-based analysis of association of SNP markers as well as distinct MHC class I and II alleles with CHB, HLA-DRB1*04 and HLA-Cw*05 variants were significantly more frequently transmitted to affected individuals (p<0.03 and p<0.05, respectively), while HLA-DRB1*13 and HLA-Cw*06 variants were significantly less often transmitted to affected children (p<0.04 and p<0.03). We further observed marked association of increased paternal (but not maternal) HLA-DRB1*04 transmission to affected offspring (p<0.02).CONCLUSIONS: HLA-DRB1*04 and HLA-Cw*05 were identified as novel foetal HLA allele variants that confer susceptibility to CHB in response to Ro/SSA autoantibody exposure, while DRB1*13 and Cw*06 emerged as protective alleles. Additionally, we demonstrated a paternal contribution to foetal susceptibility to CHB for the first time.
|
|
| 3. |
- Ahlberg, Anders, et al.
(författare)
-
Courses for doctoral supervisors – an arena for learning and development (keynote presentation, abstract)
- 2019
-
Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- In this session, we will describe how Lund University’s courses for doctoral supervisors have evolved over time and how they have been key for learning and development on the individual, collective and organisational level. The courses provide a unique arena that allows supervisors to share and investigate experiences, practices and circumstances that normally are hidden, sometimes deep within departments and research groups. Course participants’ investigations are used and developed further in subsequent courses and enduring patterns have provided starting points for the course facilitators’ own research. As a result, a cumulative and highly contextualised body of knowledge has materialised and over time replaced much of the traditional “generic” content. In parallel, local and national networks and conferences on doctoral supervision have emerged, and both course participants and facilitators have published their research. In some instances, supervisor courses have become deeply integrated with doctoral education, quality work and faculty strategies. Additional Information
|
|
| 4. |
|
|
| 5. |
- Ahlberg, Anders, et al.
(författare)
-
Institutional promotion of doctoral supervision and research quality
- 2009
-
Konferensbidrag (refereegranskat)abstract
- In our experience, doctoral supervision seminars and training (and associated literature) focus the supervisor-student relationship to an extent largely leaving aspects of learning, enculturation and subject discipline aside. In 2006-2008 we therefore developed and implemented a 3-week programme compulsory for new primary research supervisors (docent degree) with a wider scope, at the faculties Engineering and Natural Sciences, Lund University, Sweden. The programme include • Social and legal dimensions of the student-supervisor relationship; where participants share experienced accounts of supervisor-student situations. These were documented and analysed with respect to selected models of social theory. • Self-analysis of participants´ written accounts of their research principles and practices, and aspects of research creativity (philosophy of science) • Participant development of discipline-specific doctoral student learning activities.• Project management principles and practice, research career analysis• Research presentation and research situation feedback skills. The framework aims to develop participants´ integrated meta-perspective on their research and supervisor situation, to increase chances of successful doctoral projects and increase long-term research creativity. The programme (five participant groups of 15-20 participants each 2006-2008) has received supportive participant reactions indicating valuable conceptual change (although some were provoked during self-analysis of their academic practice). The programme will be followed up by alumni focus group interviews three years after programme completion (this fall) in order to understand long-term effects on academic behaviour.
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
- Ambrosi, Aurelie, et al.
(författare)
-
Development of heart block in children of SSA/SSB-autoantibody-positive women is associated with maternal age and displays a season-of-birth pattern
- 2012
-
Ingår i: Annals of the Rheumatic Diseases. - London : BMJ Publishing Group. - 0003-4967 .- 1468-2060. ; 71:3, s. 334-340
-
Tidskriftsartikel (refereegranskat)abstract
- Objective Congenital heart block may develop in the fetuses of Ro/SSA-positive and La/SSB-positive mothers. Recurrence rates of only 10-20% despite persisting maternal antibodies indicate that additional factors are critical for the establishment of heart block. The authors investigated the influence of other maternal and fetal factors on heart block development in a Swedish population-based cohort. less thanbrgreater than less thanbrgreater thanMethods The influence of fetal gender, maternal age, parity and time of birth on heart block development was analysed in 145 families, including Ro/La-positive (n=190) and Ro/La-negative (n=165) pregnancies. less thanbrgreater than less thanbrgreater thanResults There was a recurrence rate of 12.1% in Ro/La-positive women, and no recurrence in Ro/La-negative women. Fetal gender and parity did not influence the development of heart block in either group. Maternal age in Ro/La-positive pregnancies with a child affected by heart block was, however, significantly higher than in pregnancies resulting in babies without heart block (pandlt;0.05). Seasonal timing of pregnancy influenced the outcome. Gestational susceptibility weeks 18-24 occurring during January-March correlated with a higher proportion of children with heart block and lower vitamin D levels during the same period in a representative sample of Swedish women and a corresponding higher proportion of children with heart block born in the summer (pandlt;0.02). Maternal age or seasonal timing of pregnancy did not affect the outcome in Ro/La-negative pregnancies. less thanbrgreater than less thanbrgreater thanConclusion This study identifies maternal age and seasonal timing of pregnancy as novel risk factors for heart block development in children of Ro/La-positive women. These observations may be useful for counselling when pregnancy is considered.
|
|
| 9. |
|
|
| 10. |
|
|
