| 1. |
- Jemt, Anders, 1985-, et al.
(författare)
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Evaluation of methods for whole genome and transcriptome sequencing from nanograms of FFPE samples
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The most widely used method for the preservation of clinical tissue specimens is formalin fixation and paraffin embedding (FFPE). Simultaneous analysis of RNA and DNA from samples preserved using this method have long proved problematic, primarily due to lack of material. Here, we describe an attempt to build a complete analysis package for RNA and DNA extracted from single tissue sections. The workflow includes quality control of the extracted material, library preparation and data analysis. We extract DNA with varying integrity from FFPE sections and subject them to whole genome sequencing using two library preparation methods, Illumina TruSeq Nano using the Illumina NeoPrep and Rubicon Genomics ThruPlex. We are able to obtain some usable data, albeit with high duplication rates, demonstrating both the possibilities and challenges of sequencing damaged DNA. Two different approaches to transcriptome sequencing are assessed, the TruSeq RNA Access library preparation kit from Illumina and the SMARTer Stranded Total RNA-Seq Kit - Pico Input from Clonetech. The sequence capture approach of the TruSeq kit is shown to be more robust to low integrity RNA compared to the SMARTer kit. However, the SMARTer kit needs much less starting material and is able to yield data about all transcripts, not just protein coding mRNA.
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| 2. |
- Sävblom, C, et al.
(författare)
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Association between polymorphisms in the prostate-specific antigen (PSA) promoter and release of PSA
- 2009
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Ingår i: International Journal of Andrology. - : Wiley-Blackwell. - 0105-6263 .- 1365-2605. ; 32:5, s. 479-485
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Tidskriftsartikel (refereegranskat)abstract
- Variations in serum prostate-specific antigen (PSA) have been ascribed to A/G nucleotide polymorphisms located at -158 bp (rs266882) and -4643 bp (rs925013), relative to the transcription start site within the promoter of the PSA gene. PSA is also an androgen receptor target (AR) gene and polymorphisms in AR gene are known to affect AR function. Our objective was to compare the impact of these A/G polymorphisms separately or in combination with AR CAG micro satellite on regulation of PSA secretion into seminal plasma and blood in young men. Leukocyte DNA was extracted from 291 conscripts and genotyping performed with the Sequenom Mass Array System. PSA was measured with an immunofluorometric assay. Linear regression analysis was used to test the association of polymorphism frequencies with serum and seminal plasma levels of PSA. PSA gene polymorphisms at -158 bp or -4643 bp did not alone influence total PSA (tPSA) levels in seminal plasma or in blood. Homozygotes for the A-allele at -158 bp in combination with CAG > 22 had significantly higher serum levels of tPSA than subjects carrying the G-allele (p = 0.01). In conclusion, the PSA gene polymorphisms did not importantly influence the levels of tPSA in seminal plasma or in blood. tPSA in serum was influenced by interactions between PSA promoter variants and AR CAG polymorphism.
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| 3. |
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| 4. |
- Aschim, EL, et al.
(författare)
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Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene
- 2004
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 89:10, s. 5105-5109
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Tidskriftsartikel (refereegranskat)abstract
- Although sufficient androgen receptor (AR) function is crucial for normal male sexual differentiation, single-point mutations in the AR gene are infrequent in the two most common male congenital malformations, hypospadias and cryptorchidism. Because polymorphic CAG and GGN segments regulate AR function, we investigated whether there was any association between these polymorphisms and mentioned malformations. Genotyping was performed by direct sequencing of DNA from patients diagnosed with hypospadias (n = 51) and cryptorchidism ( n = 23) and controls ( n = 210). The subjects with hypospadias were divided into subgroups of glanular, penile, and penoscrotal hypospadias. Median GGN lengths were significantly higher ( 24 vs. 23) among both subjects with cryptorchidism, compared with controls ( P = 0.001), and those with penile hypospadias, compared with either controls ( P = 0.003) or glanular and penoscrotal hypospadias combined ( P = 0.018). The frequency of cases with GGN 24 or more vs. GGN = 23, differed significantly among those with cryptorchidism (65/35%), compared with controls (31/54%) ( P = 0.012), and among subjects with penile hypospadias (69/31%), compared with either controls ( P = 0.035) or glanular or penoscrotal hypospadias combined (32/55%) ( P = 0.056). There were no significant differences in CAG lengths between the cases and controls. Our findings indicate an association between GGN length and the risk of cryptorchidism and penile hypospadias, both conditions considered consequences of low androgenicity.
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| 5. |
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| 6. |
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| 7. |
- Eberhard, Jakob, et al.
(författare)
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Impact of therapy and androgen receptor polymorphism on sperm concentration in men treated for testicular germ cell cancer: a longitudinal study.
- 2004
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Ingår i: Human Reproduction. - : Oxford University Press (OUP). - 0268-1161 .- 1460-2350. ; 19:6, s. 1418-1425
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Tidskriftsartikel (refereegranskat)abstract
- Abstract in Undetermined BACKGROUND: Testicular cancer (TC) patients have a high survival rate, and the question of post-therapy recovery of sperm production and its dependence on genetic predisposition is of major interest. METHODS: Ejaculates were obtained from 112 TC patients at one or more of the following time points: post-orchidectomy, or 6, 12, 24, 36 and 60 months post-therapy. The lengths of the androgen receptor (AR) function modulating CAG and GGN repeats in leukocyte DNA were also analysed. RESULTS: No significant decrease in sperm concentration was seen in men who received 1-2 cycles of adjuvant chemotherapy (ACT). Radiotherapy (RT) or more than two cycles of chemotherapy (HCT) caused an initial decline in sperm concentration, which returned to pre-treatment levels 2-5 years after therapy. In the HCT group, sperm concentration 12-24 months post-treatment (T(12-24)) was inversely correlated with CAG length (rho = -0.72, P = 0.03). The type of treatment, but not the concentration at T(0), was an independent predictor of sperm concentration at T(6) (P < 0.0005) and T(12-24) (P = 0.004). CONCLUSION: ACT did not induce a significant decline in sperm concentration. After HCT and RT, a significant reduction of sperm concentration was observed, recovering to pre-treatment levels 2-5 years post-treatment. In HCT-treated patients, the AR CAG length influenced the recovery of spermatogenesis.
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| 8. |
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| 9. |
- Eriksson, Marie, et al.
(författare)
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Avloppsvatten : Rening av avloppsvatten i Sverige
- 2016
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Utvecklingen de senaste 200 åren har gått från nedgrävda latriner via underjordiska kloaker som släpptes ut i närmaste sjö eller kustvatten till avancerade avloppsreningsverk. Avloppsfrågan har förändrats från att vara lösningen på ett lokalt sanitärt problem till att bli en global miljöfråga.Rening av avloppsvatten i Sverige ges ut av Naturvårdsverket och beskriver hur reningen av avloppsvatten från tätorter utvecklats i Sverige under 1900- och 2000-talen. Skriften ges ut vartannat år och har uppdaterats med senaste statistiken från 2014 angående utsläpp och slam från reningsverk.Informationen presenteras enligt artikel 16 i avloppsdirektivet (91/271/EEG). Direktivet omfattar allt avloppsvatten som samlas upp i ledningsnät, men kvantitativa krav ställs bara för de reningsverk som betjänar mer är 2 000 personer. I Sverige motsvarar det drygt 400 anläggningar. De gamla medlemsländerna i EU (EU15) skulle ha uppfyllt alla åtgärder inom ramen för direktivet vid utgången av 2005. De 12 nya EU-länderna har olika övergångsregler.
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| 10. |
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| 11. |
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| 12. |
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| 13. |
- Gunnarsson, Rebeqa, et al.
(författare)
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Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia
- 2018
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 32:10, s. 2117-2125
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Tidskriftsartikel (refereegranskat)abstract
- High-throughput sequencing was applied to investigate the mutation/methylation patterns on 1q and gene expression profiles in pediatric B-cell precursor acute lymphoblastic leukemia (BCP ALL) with/without (w/wo) dup(1q). Sequencing of the breakpoint regions and all exons on 1q in seven dup(1q)-positive cases revealed non-synonymous somatic single nucleotide variants (SNVs) in BLZF1, FMN2, KCNT2, LCE1C, NES, and PARP1. Deep sequencing of these in a validation cohort w (n = 17)/wo (n = 94) dup(1q) revealed similar SNV frequencies in the two groups (47% vs. 35%; P = 0.42). Only 0.6% of the 36,259 CpGs on 1q were differentially methylated between cases w (n = 14)/wo (n = 13) dup(1q). RNA sequencing of high hyperdiploid (HeH) and t(1;19)(q23;p13)-positive cases w (n = 14)/wo (n = 52) dup(1q) identified 252 and 424 differentially expressed genes, respectively; only seven overlapped. Of the overexpressed genes in the HeH and t(1;19) groups, 23 and 31%, respectively, mapped to 1q; 60-80% of these encode nucleic acid/protein binding factors or proteins with catalytic activity. We conclude that the pathogenetically important consequence of dup(1q) in BCP ALL is a gene-dosage effect, with the deregulated genes differing between genetic subtypes, but involving similar molecular functions, biological processes, and protein classes.
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| 14. |
- Hall, Caroline, et al.
(författare)
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Strengthening Teachers in Disadvantaged Schools : Evidence from an Intervention in Sweden's Poorest City Districts
- 2022
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Ingår i: Scandinavian Journal of Educational Research. - : Informa UK Limited. - 0031-3831 .- 1470-1170. ; 66:2, s. 208-224
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Tidskriftsartikel (refereegranskat)abstract
- Children growing up in disadvantaged neighborhoods perform much worse in school compared to children growing up under more favorable circumstances. We examine a program ("Coaching for Teaching") targeted at ten lower secondary schools in Sweden's most disadvantaged city districts. The program's aim was to enhance student performance by strengthening the teachers' professional development. Using a difference-in-differences design we estimate effects on several outcomes. We find a positive and statistically significant impact on student performance on standardized tests in English. Estimates for several other outcomes are also positive, but not statistically significant. For test scores in Swedish there is no improvement. An analysis of a survey among pupils supports the idea that the intervention enhanced the teaching and the classroom climate.
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| 15. |
- Håkansson, Irene, et al.
(författare)
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Successful autologous haematopoietic stem cell transplantation for refractory myasthenia gravis - a case report
- 2017
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Ingår i: Neuromuscular Disorders. - : PERGAMON-ELSEVIER SCIENCE LTD. - 0960-8966 .- 1873-2364. ; 27:1, s. 90-93
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Tidskriftsartikel (refereegranskat)abstract
- Myasthenia gravis (MG) is an autoimmune disease, with immune reactivity against the post-synaptic endplate of the neuromuscular junction. Apart from symptomatic treatment with choline esterase blockers, many patients also require immunomodulatory treatment. Despite existing treatment options, some patients are treatment refractory. We describe a patient with severe MG refractory to corticosteroids, four oral immunosuppressants, cyclophosphamide, rituximab and bortezomib who was treated with autologous haematopoietic stem cell transplantation. Two years after this, the patient has significantly improved in objective tests and in quality of life and leads an active life. Diplopia is her only remaining symptom and she is completely free of medication for MG. We believe that autologous haematopoietic stem cell transplantation can be an effective therapeutic option for carefully selected cases of severe, treatment refractory MG. (c) 2016 Elsevier B.V. All rights reserved.
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| 16. |
- Häggqvist, Beatrice, et al.
(författare)
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"The balancing act". Licensed practical nurse experiences of falls and fall prevention : a qualitative study
- 2012
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Ingår i: BMC Geriatrics. - : Springer Science and Business Media LLC. - 1471-2318. ; 12, s. 62-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Falls are common in old age and may have serious consequences. There are many strategies to predict and prevent falls from occurring in long-term care and hospitals. The aim of this study was to describe licensed practical nurse experiences of predicting and preventing further falls when working with patients who had experienced a fall-related fracture. Licensed practical nurses are the main caretakers that work most closely with the patients.Methods: A qualitative study of focus groups interviews and field observations was done. 15 licensed practical nurses from a rehabilitation ward and an acute ward in a hospital in northern Sweden were interviewed. Content was analyzed using qualitative content analysis.Results: The result of the licensed practical nurse thoughts and experiences about risk of falling and fall prevention work is represented in one theme, "the balancing act". The theme includes three categories: "the right to decide", "the constant watch", and "the ongoing negotiation" as well as nine subcategories. The analysis showed similarities and differences between rehabilitation and acute wards. At both wards it was a core strategy in the licensed practical nurse work to always be ready and to pay attention to patients' appearance and behavior. At the rehabilitation ward, it was an explicit working task to judge the patients' risk of falling and to be active to prevent falls. At the acute ward, the words "risk of falling" were not used and fall prevention were not discussed; instead the licensed practical nurses used for example "dizzy and pale". The results also indicated differences in components that facilitate workplace learning and knowledge transfer.Conclusions: Differences between the wards are most probably rooted in organizational differences. When it is expected by the leadership, licensed practical nurses can express patient risk of falling, share their observations with others, and take actions to prevent falls. The climate and the structure of the ward are essential if licensed practical nurses are to be encouraged to routinely consider risk of falling and implement risk reduction strategies.
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| 17. |
- Kallin, Kristina, et al.
(författare)
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Predisposing and precipitating factors for falls among older people in residential care
- 2002
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Ingår i: Public Health. - 0033-3506 .- 1476-5616. ; 116:5, s. 263-271
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Tidskriftsartikel (refereegranskat)abstract
- Falls and their consequences are serious health problems among older populations. To study predisposing and precipitating factors for falls among older people in residential care we used a cross-sectional study design with a prospective follow up for falls. Fifty-eight women and 25 men, with a mean age of 79.6 y, were included and prospectively followed up regarding falls for a period of 1 y after baseline assessments. All those who fell were assessed regarding factors that might have precipitated the fall. The incidence rate was 2.29 falls/person years. Antidepressants (selective serotonin reuptake inhibitors, SSRIs), impaired vision and being unable to use stairs without assistance were independently associated with being a 'faller'. Twenty-eight (53.8%) of the fallers suffered injuries as a result of their falls, including 21 fractures. Twenty-seven percent of the falls were judged to be precipitated by an acute illness or disease and 8.6% by a side effect of a drug. Acute symptoms of diseases or drug side effects were associated with 58% of the falls which resulted in fractures. We conclude that SSRIs seem to constitute one important factor that predisposes older people to fall, once or repeatedly. Since acute illnesses and drug side-effects were important precipitating factors, falls should be regarded as a possible symptom of disease or a side-effect of a drug until it is proven otherwise.
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| 18. |
- Kallin, Kristina, et al.
(författare)
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Why the elderly fall in residential care facilities, and suggested remedies.
- 2004
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Ingår i: The Journal of family practice. - 0094-3509 .- 1533-7294. ; 53:1, s. 41-52
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To study precipitating factors for falls among older people living in residential care facilities. DESIGN: Prospective cohort study. SETTING: Five residential care facilities. PARTICIPANTS: 140 women and 59 men, mean age +/- SD 82.4 +/- 6.8 (range, 65-97). MEASUREMENTS: After baseline assessments, falls in the population were tracked for 1 year. A physician, a nurse, and a physiotherapist investigated each event, and reached a consensus concerning the most probable precipitating factors for the fall. RESULTS: Previous falls and treatment with antidepressants were found to be the most important predisposing factors for falls. Probable precipitating factors could be determined in 331 (68.7%) of the 482 registered falls. Acute disease or symptoms of disease were judged to be precipitating, alone or in combination in 186 (38.6%) of all falls; delirium was a factor in 48 falls (10.0%), and infection, most often urinary tract infection, was a factor in 38 falls (7.9%). Benzodiazepines or neuroleptics were involved in the majority of the 37 falls (7.7%) precipitated by drugs. External factors, such as material defects and obstacles, precipitated 38 (7.9%) of the falls. Other conditions both related to the individual and the environment, such as misinterpretation (eg, overestimation of capacity or forgetfulness), misuse of a roller walker, or mistakes made by the staff were precipitating factors in 83 (17.2%) of falls. CONCLUSION: Among older people in residential care facilities, acute diseases and side effects of drugs are important precipitating factors for falls. Falls should therefore be regarded as a possible symptom of disease or a drug side effect until proven otherwise. Timely correction of precipitating and predisposing factors will help prevent further falls.
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| 19. |
- Lindstrand, Anna, et al.
(författare)
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From cytogenetics to cytogenomics : whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
- 2019
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Ingår i: Genome Medicine. - : BMC. - 1756-994X. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundSince different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.MethodsWe analyzed three cohorts with short-read WGS: (i) a retrospective cohort with validated copy number variants (CNVs) (cohort 1, n=68), (ii) individuals referred for monogenic multi-gene panels (cohort 2, n=156), and (iii) 100 prospective, consecutive cases referred to our center for CMA (cohort 3). Bioinformatic tools developed include FindSV, SVDB, Rhocall, Rhoviz, and vcf2cytosure.ResultsFirst, we validated our structural variant (SV)-calling pipeline on cohort 1, consisting of three trisomies and 79 deletions and duplications with a median size of 850kb (min 500bp, max 155Mb). All variants were detected. Second, we utilized the same pipeline in cohort 2 and analyzed with monogenic WGS panels, increasing the diagnostic yield to 8%. Next, cohort 3 was analyzed by both CMA and WGS. The WGS data was processed for large (>10kb) SVs genome-wide and for exonic SVs and SNVs in a panel of 887 genes linked to intellectual disability as well as genes matched to patient-specific Human Phenotype Ontology (HPO) phenotypes. This yielded a total of 25 pathogenic variants (SNVs or SVs), of which 12 were detected by CMA as well. We also applied short tandem repeat (STR) expansion detection and discovered one pathologic expansion in ATXN7. Finally, a case of Prader-Willi syndrome with uniparental disomy (UPD) was validated in the WGS data.Important positional information was obtained in all cohorts. Remarkably, 7% of the analyzed cases harbored complex structural variants, as exemplified by a ring chromosome and two duplications found to be an insertional translocation and part of a cryptic unbalanced translocation, respectively.ConclusionThe overall diagnostic rate of 27% was more than doubled compared to clinical microarray (12%). Using WGS, we detected a wide range of SVs with high accuracy. Since the WGS data also allowed for analysis of SNVs, UPD, and STRs, it represents a powerful comprehensive genetic test in a clinical diagnostic laboratory setting.
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| 20. |
- Lundin, Cecilia
(författare)
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Hormonal contraception, mood and sexual function
- 2020
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Hormonal contraceptives (HCs) are used by millions of women worldwide. Apart from their contraceptive effect, they also offer additional health benefits such as decreased menstrual bleedings and amelioration of menstrual-related pain. Adverse mood and sexual side-effects during HC-use are commonly reported, and women who discontinue treatment with HCs often claim these side effects as reason for cessation.Although several studies have investigated associations of HCs and adverse mood and sexual side-effects, little is known about causally drug-related outcomes. Few randomised controlled trials (RCTs) have been conducted, and observational studies in the field are subject to several methodological caveats which limit what conclusions that can be drawn from them.The overall aim of this thesis was to investigate the effect of HCs on various aspects of mood and sexual function.Study one was a randomised controlled trial where participant women received a combined oral contraceptive (COC) or placebo. Mood and sexual function were assessesed through daily ratings and questionnaires and measured at baseline and after three months treatment. Study two was a cross-sectional study that assessed which demographic, reproductive, and psychiatric factors are associated with self-reported HC-induced adverse mood symptoms.Study three was a register-based cohort study including all Nordic-born women aged 15-24 residing in Sweden between 2010 and 2017. Risk of depression – captured as redeemed prescription of antidepressant treatment or a depression diagnosis – among HC-users compared to non-users were estimated. Women who were randomised to a COC reported increased anxiety, mood swings and irritability compared to women randomised to placebo. In contrast, women who received a COC improved in depressive symptoms (paper I). Compared to women randomised to placebo, women who received a COC deteriorated regarding sexual interest and vaginal lubrication. Only deterioration in sexual interest remained after adjustments for depressive symptoms (paper II). Compared to women with no self-reported HC-induced adverse mood symptoms, women with such experience more often suffered from an ongoing minor depressive disorder, had more often experienced any previous mental health problem, and had more often undergone induced abortion (paper III). No uniform associations between use of HCs and subsequent risk of depression were found. In general, oral contraceptives conferred lower or no risk, while non-oral contraceptives were associated with small increased risks. Higher risks were found among HC-users aged 15-19 years compared to older HC-users (paper IV).
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| 21. |
- Lundin, Cecilia, et al.
(författare)
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Sexual function and combined oral contraceptives : a randomised, placebo-controlled trial
- 2018
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Ingår i: Endocrine Connections. - : Bioscientifica. - 2049-3614. ; 7:11, s. 1208-1216
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The effect of combined oral contraceptives (COCs) on female sexuality has long been a matter of discussion, but placebo-controlled studies are lacking. Thus, the aim of the present study was to investigate if an oestradiol-containing COC influences sexual function.Design: Investigator-initiated, randomised, double-blinded, placebo-controlled clinical trial where 202 healthy women were randomised to a combined oral contraceptive (1.5 mg oestradiol and 2.5 mg nomegestrol acetate) or placebo for three treatment cycles.Methods: Sexual function at baseline and during the last week of the final treatment cycle was evaluated by the McCoy Female Sexuality Questionnaire. Serum and hair testosterone levels were assessed at the same time points.Results: Compared to placebo, COC use was associated with a small decrease in sexual interest (COC median change score: -2.0; interquartile range (IQR): -5.0 to 0.5 vs placebo: -1.0; IQR: -3.0 to 2.0, P=0.019), which remained following adjustment for change in self-rated depressive symptoms (B= -0.80 +/- 0.30, Wald =7.08, P=0.008). However, the proportion of women who reported a clinically relevant deterioration in sexual interest did not differ between COC or placebo users (COC 18 (22.2%) vs placebo 16 (17.8%), P=0.47). Change in other measured aspects of sexual function as well as total score of sexual function did not differ between the two treatments.Conclusions: This study suggests that use of oestradiol-based COCs is associated with reduced sexual interest. However, the changes are minute, and probably not of clinical relevance.
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| 22. |
- Lundin, Cecilia, et al.
(författare)
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Towards individualised contraceptive counselling : Clinical and reproductive factors associated with self-reported hormonal contraceptive-induced adverse mood symptoms
- 2021
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Ingår i: BMJ Sexual & Reproductive Health. - : BMJ Publishing Group Ltd. - 2515-1991 .- 2515-2009. ; 47:3
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The study aim was to establish which demographic, clinical, reproductive and psychiatric factors are associated with self-reported hormonal contraceptive (HC)-induced adverse mood symptoms.Study design: We compiled baseline data from two Swedish studies: one cross-sectional study on combined oral contraceptive (COC)-induced adverse mood symptoms (n=118) and one randomised controlled trial on adverse mood symptoms on COC (n=184). Both included women eligible for COC use, aged over 18 years. All women answered a questionnaire on HC use and associated mood problems. The Mini-International Neuropsychiatric Interview (M.I.N.I.) was used to capture mood and anxiety disorders. Women who acknowledged HC-induced adverse mood symptoms, ongoing or previously (n=145), were compared with women without any such experience (n=157).Results: Compared with women without self-reported HC-induced adverse mood symptoms, women with these symptoms were younger at HC start (adjusted odds ratio (aOR) 0.83, 95% CI 0.72 to 0.95), had more often undergone induced abortion (OR 3.36, 95% CI 1.57 to 7.23), more often suffered from an ongoing minor depressive disorder (n=12 vs n=0) and had more often experienced any previous mental health problem (aOR 1.90, 95% CI 1.01 to 3.59).Conclusions: In line with previous research, this study suggests that women with previous or ongoing mental health problems and women who are younger at HC start are more likely to experience HC-induced adverse mood symptoms. Former and current mental health should be addressed at contraceptive counselling, and ongoing mental health disorders should be adequately treated.Implications: This study adds valuable knowledge for identification of women susceptible to HC-induced adverse mood symptoms. It should facilitate the assessment of whether or not a woman has an increased risk of such symptoms, and thus enable clinicians to adopt a more personalised approach to contraceptive counselling.
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| 23. |
- Lundin, Kristina, et al.
(författare)
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Androgen receptor genotypes predict response to endocrine treatment in breast cancer patients.
- 2011
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Ingår i: British Journal of Cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 105:11, s. 1676-1683
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Tidskriftsartikel (refereegranskat)abstract
- Background:The androgen receptor (AR) is frequently expressed in breast cancers. The AR genotype may affect disease-free survival and response to endocrine therapy.Methods:In all, 634 women undergoing breast cancer surgery between 2002 and 2008 were followed until 30 June 2010. Six haplotype-tagging single-nucleotide polymorphisms in the AR, and the resulting AR diplotypes, were examined in relation to breast cancer patient characteristics, tumour characteristics, disease-free survival, and response to endocrine treatment.Results:Five common AR diplotypes were found. Seventeen rare variants were combined into a composite group. The resulting six AR diplotype groups were clustered into two subgroups, groups A (n=128) and B (n=499), with three diplotypes in each. Patients in group B had larger total breast volume (P=0.024), higher body mass index (BMI) (P=0.050), more axillary lymph node involvement (P(trend)=0.020), and higher histological grade (P(trend)=0.031). There were 59 breast cancer events in the 569 patients with invasive cancers and no preoperative treatment. Patients in group B also had shorter disease-free survival (P=0.037) than patients in group A. Among patients in group B with oestrogen receptor α positive tumours, tamoxifen (TAM) treatment was associated with longer disease-free survival (P=0.008), while treatment with aromatase inhibitors (AIs) was not (P=0.94). Response to endocrine treatment could not be predicted based on BMI, suggesting that the effect of AR diplotypes went beyond that of a higher BMI.Conclusion:A marker for a group of patients who responded to TAM, but not to AIs, was identified. If this finding is confirmed, AR genotyping may provide useful information for selection of endocrine treatment of breast cancer patients.British Journal of Cancer advance online publication, 27 October 2011; doi:10.1038/bjc.2011.441 www.bjcancer.com.
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| 24. |
- Lundin, Kristina, et al.
(författare)
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Frequent finding of the androgen receptor A645D variant in normal population.
- 2006
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 91:2006 May 16, s. 3228-3231
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Tidskriftsartikel (refereegranskat)abstract
- Background: The androgen receptor A645D mutation has been described in one patient with ambiguous genitalia and one boy with normal phenotype. Objective: Because of this phenotypic variation, we screened a cohort of men from the general population (n = 293) as well as men with the following disorders of the genital tract for the mutation: men with prostate cancer (n = 89), testicular cancer (n = 87), and infertility (n = 103). We also investigated the influence of the polymorphic CAG and GGN repeats on the phenotypic outcome. Results: The A645D variant was found in three men from the general population (1.0%). These men did not differ regarding testosterone or LH concentrations, compared with the rest of this population. In addition, two men with prostate cancer (2.3%) and one infertile man (1.0%) presented with the mutation. No statistical differences in frequency were noted between the study groups, and none of these individuals had any genital malformations. All men who presented with the mutation carried an extraordinarily short GGN repeat of 10 base triplets in combination with long CAG repeats of 26-28 (average 27.3). In contrast, men with GGN = 10, but CAG less than 26 did not have the A645D mutation. A single-nucleotide polymorphism analysis revealed that the A645D variant has emerged from the most common haplogroup in our population. Conclusions: We conclude that the A645D mutation, which is present in 1% of the general Swedish population, is linked to GGN10 and long CAG repeats. Its effect on androgen receptor function is currently unknown.
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| 25. |
- Lundin, Kristina, et al.
(författare)
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Functional in vitro characterisation of the androgen receptor GGN polymorphism.
- 2007
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Ingår i: Molecular and Cellular Endocrinology. - : Elsevier BV. - 1872-8057 .- 0303-7207. ; 264:1-2, s. 184-187
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Tidskriftsartikel (refereegranskat)abstract
- Superior androgen receptor (AR) function in subjects carrying a GGN repeat length of 23 (GGN23) has been indicated in vivo. Therefore, the activity of the AR carrying GGN23 combined with CAG22 was compared to the AR with GGN10, 24 and 27, respectively, in the presence of 0.1-100 nM testosterone or DHT. At 100 nM DHT, GGN24 showed 35% lower transactivating activity (95% [CI]: 20-50%) than GGN23. GGN10 and GGN27 also showed significantly less AR activity than GGN23 (mean differences [95% CI]: 54% [40-68%] and 58% [39-78%], respectively). The same trend was also observed at lower DHT concentrations. In response to R 188 1, GGN23 activity was significantly higher than for other lengths. ARs with other glutamine numbers than 23 have lower transactivating capacity in response to both testosterone and DHT. Congenital malformations and other signs of hypoandrogenism in subjects with AR gene GGN lengths other than 23 could, hence, be related to a lower AR activity.
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| 26. |
- Lundin, Kristina, et al.
(författare)
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No association between mutations in the human androgen receptor GGN repeat and inter-sex conditions
- 2003
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Ingår i: Molecular Human Reproduction. - : Oxford University Press (OUP). - 1460-2407. ; 9:7, s. 375-379
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Tidskriftsartikel (refereegranskat)abstract
- The functional role of the GGN repeat in the human androgen receptor gene is unknown, although mutations in this region have been found in patients with inter-sex conditions. We have investigated the prevalence of GGN mutations in the androgen receptor in the Swedish population and their relation to male reproductive function. A physical examination and semen analysis was carried out in 223 men under medical examination before military service and in 94 men referred due to infertility and having sperm concentrations < 5x10(6)/ml. The GGN and CAG repeats in the androgen receptor gene were directly sequenced. Both populations contained two predominant alleles of 23 and 24 GGN repeats, 83.8 and 90.5% respectively. Four mutations, three in the conscripts and one among the infertile men, were found, resulting in three GGC to GGT substitutions and one GGT to GGC substitution. None of the men presented with genital abnormalities, but two conscripts had low ejaculate volumes ( 0.3 and 0.9 ml). All men carrying a mutation also had GGN lengths &GE; 24. Three subjects with GGN > 24, with no mutations and with normal seminal volumes, were also found. Our findings indicate that point mutations in the GGN repeat are frequently found in the general male population ( 1.3%; 95% CI: 0.3 - 3.9%), but are usually not associated with profound changes in the male phenotype.
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| 27. |
- Lundin, Kristina, et al.
(författare)
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Patterns and Frequencies of Acquired and Constitutional Uniparental Isodisomies in Pediatric and Adult B-Cell Precursor Acute Lymphoblastic Leukemia.
- 2016
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Ingår i: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257. ; 55:5, s. 472-479
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Tidskriftsartikel (refereegranskat)abstract
- Single nucleotide polymorphism (SNP) arrays are increasingly being used in clinical routine for genetic analysis of pediatric B-cell precursor acute lymphoblastic leukemias (BCP ALL). Because constitutional DNA is not readily available as a control at the time of diagnosis, it is important to be able to distinguish between acquired and constitutional aberrations in a diagnostic setting. In the present study we focused on uniparental isodisomies (UPIDs). SNP array analyses of 143 pediatric and 38 adult B-cell precursor acute lymphoblastic leukemias and matched remission samples revealed acquired whole chromosome or segmental UPIDs (wUPIDs, sUPIDs) in 32 cases (18%), without any age- or gender-related frequency differences. Acquired sUPIDs were larger than the constitutional ones (mean 35.3 Mb vs. 10.7 Mb; P<0.0001) and were more often terminally located in the chromosomes (69% vs. 4.5%; P<0.0001). Chromosomes 3, 5, and 9 were most often involved in acquired wUPIDs, whilst recurrent acquired sUPIDs targeted 6p, 9p, 9q, and 14q. The majority (56%) of sUPID9p was associated with homozygous CDKN2A deletions. In pediatric ALL, all wUPIDs were found in high hyperdiploid (51-67 chromosomes) cases and an extended analysis, also including unmatched diagnostic samples, revealed a higher frequency of wUPID-positivity in higher modal number (56-67 chromosomes) than in lower modal number (51-55 chromosomes) high hyperdiploid cases (34% versus 11%; P=0.04), suggesting different underlying mechanisms of formation of these subtypes of high hyperdiploidy. This article is protected by copyright. All rights reserved.
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| 28. |
- Lundin, Kristina
(författare)
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THE ANDROGEN RECEPTOR GGN POLYMORPHISM. Genetic and functional analyses.
- 2007
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Male sex development and reproductive function is regulated by androgens acting via the androgen receptor (AR). The AR harbours two polymorphic repeats of CAG and GGN triplets, encoding glutamines and glycines, respectively. Both polymorphisms affect the AR transactivation ability, although the function of the GGN repeat was virtually unknown at the start of this project. Thus, the main purpose with this thesis was to study the in vivo and in vitro impact of GGN repeat variation on AR function. A reliable method for studying the segment was established, after which the GGN repeat was studied in normal men, and in men with androgen-related disorders such as prostate cancer, testicular cancer, infertility, cryptorchidism, and hypospadias. Two predominant alleles of 23 and 24 GGN repeats, respectively, were found in all subject categories studied. GGN23 was the most common allele in all men except cryptorchid men and boys with penile hypospadias, in whom GGN24 was predominant. Point mutations within the GGN repeat were present in ~1% of the Swedish population, and were not associated with severe genital malformations. In normal men, GGN<23 was associated with a decrease in semen volume compared to GGN?23. Expression vectors harbouring the AR cDNA with GGN10, 23, 24, or 27, in combination with the median CAG repeat length, were constructed and tested in an in vitro expression system. Cos-1 cells were transiently transfected with vectors containing the GGN constructs, the prostate specific antigen promoter in combination with the Luciferase reporter gene, and ?-galactosidase gene. Cells were grown in the presence of 0, 0.1, 1.0, 10 and 100 nM of 5?-dihydrotestosterone or R1881. Western blot analysis was performed to assess the amount of androgen receptor protein. The in vitro results indicated a functional difference between the two predominant alleles, with GGN23 being superior in function. A non-linear association between GGN repeat length and AR transcriptional function was seen. No differences in AR protein levels for the different GGN repeat lengths were seen. The mode of inheritance for the CAG and GGN repeats was assessed by single nucleotide polymorphism analysis. Linkage disequilibrium was observed between the CAG and GGN repeats, with long GGN repeats being inherited together with short CAG repeats, and vice versa. Thus, in this thesis I have shown that the AR gene GGN repeat plays an important role in normal male sex development and male reproductive function.
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| 29. |
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| 30. |
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| 31. |
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| 32. |
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| 33. |
- Lundin-Ström, Kristina B., et al.
(författare)
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Parental origin of monosomy 7 in acute leukaemia
- 2021
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Ingår i: British Journal of Haematology. - : Wiley-Blackwell Publishing Inc.. - 0007-1048 .- 1365-2141. ; 192:5, s. e132-e135
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
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| 34. |
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| 35. |
- Lundin Wallengren, Marie Louise, et al.
(författare)
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Salivary IgA reactions to cell-surface antigens of oral streptococci.
- 2004
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Ingår i: Oral Microbiology and Immunology. - : Blackwell Munksgaard. - 0902-0055 .- 1399-302X. ; 19:3, s. 188-195
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: In the immunoblot technique, using whole bacteria cell extracts as antigens, both intra- and extracellular antigens are de-tected, which gives a large number of immunoglobulin A (IgA) reac-tions (immunoblot bands) when incubated with saliva. It is important to distinguish which immunoblot bands represent bacterial cell-surface antigens, since these antigens could be involved in adhesion mecha-nisms and be available for blocking in vivo. METHODS: Bacterial ex-tracts of Streptococcus mutans, Streptococcus sobrinus, Streptococcus parasanguis and the streptococcal antigen I/II were separated using SDS-PAGE. The antigens were detected with saliva in Western blot. Untreated saliva and saliva in which cell-surface reactive IgA had been absorbed with whole bacteria cells were analyzed. RESULTS: Ap-proximately half the number of the bands were absent for saliva ab-sorbed with homologous cells, compared to untreated saliva. The ab-sorption pattern was almost identical for S. mutans and S. sobrinus but not for S. parasanguis. Salivary IgA reactive against streptococcal antigen I/II was absorbed by S. mutans cells, to a lesser extent by S. sobrinus cells, and not at all by S. parasanguis cells. CONCLUSION: It is likely that the bands that were absent after absorption represented cell-surface antigens. For S. mutans and S. sobrinus, these bands were probably the streptococcal antigen I/II. Copyright Blackwell Munks-gaard, 2004.
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| 36. |
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| 37. |
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| 38. |
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| 39. |
- Oda, Husam, 1975-
(författare)
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Leucine-rich repeats and immunoglobulin-like domain (LRIG) proteins : possible prognostic markers in vulvar squamous cell carcinoma, endometrial carcinoma, and oropharymgeal squamous cell carcinoma
- 2023
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The human leucine-rich repeats and immunoglobulin-like domain (LRIG) gene family comprises three genes, LRIG1, LRIG2 and LRIG3, which encode the LRIG1, LRIG2 and LRIG3 proteins, respectively. Previous stidies have revealed the different prognostic roles of these proteins in different cancers, and it has been shown that LRIG1 functions as a tumour suppressor in certain cancers via its negative regulation of several receptor tyrosine kinases. Much less is known about the functionof LRIG2 and LRIG3. The expression of all three LRIG genes has been studied with human papillomavirus (HPV). In particular, expression of LRIG1 has been associated with improved survival in cervical, vaginal, and oropharyngeal cancers. Since LRIG1 has been shown to predict sensitivity to paltinum-based chemotherapy when studied in different cell lines, the possible role of LRIG protein expression in HPV-associated and other cancers may be interesting to investigate furthur.The overall aim of this thesis was to evaluate the immunoreactivity of LRIGs in vulvar squamous cell carcinoma (VSCC), endometrial carcinoma (EC) and oropharyngeal squamous cell carcinoma (OPSCC) and to investigate the potential prognostic value of LRIG proteins in association with HPV and p16 status in VSCC and OPSCC and to investigate the possible prognostic value of LMO7 and other prognostic markers of interest. Expression of the LRIG proteins and other markers was evaluated with immunohistochemistry, and HPV status was determined by PCR.In VSCC, high immunoreactivity of LRIG2 and LMO7 was associated with good survival. LRIG1 was not a significant prognostic factor in VSCC. We also conducted a pilot study to evaluate the immunoreactivity of LRIG proteins in 75 women with EC. Most of the patients in this cohort had very high positivity for LRIG proteins. High expression of LRIG3 was associated with better survival. LRIG1 and LRIG2 expression in tumours had no impact on prognosis in this study, but this should be interpreted with great caution due to the limited size of the cohort. Finally, high expression of LMO7 was associated with improved survival in OPSCC. In this cohort of 143 patients, LRIG1 expression was associated with worse survival in HPV-driven tumours. This is in contrast to previous published work where high LRIG1 expression has been associated with good survival. Notably, in both the VSCC and OPSCC cohort, a new polyclonal LRIG1 antibody was used in contrast to that in a previous study of OPSCC.In conclusion, we report additional data on the prognosticvalue of LRIG proteins in smaller cohort of VSCC, EC and OPSCC and suggest that these molecular markers need to be investigated furthur to elucidate possible clinical implications. In addition, a new monoclonal antibody against LRIG1 needs to be developed to ensure the reproducibility of the data.
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| 40. |
- Olsson, Linda, et al.
(författare)
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Improved cytogenetic characterization and risk stratification of pediatric acute lymphoblastic leukemia using single nucleotide polymorphism array analysis : A single center experience of 296 cases
- 2018
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Ingår i: Genes Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 57:11, s. 604-607
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Tidskriftsartikel (refereegranskat)abstract
- Single nucleotide polymorphism array (SNP-A) analyses are increasingly being introduced in routine genetic diagnostics of acute lymphoblastic leukemia (ALL). Despite this, only few studies that have compared the diagnostic value of SNP-A with conventional chromosome banding have been published. We here report such a comparison of 296 ALL cases, the largest series to date. Only genomic imbalances >5 Mb and microdeletions targeting the BTG1, CDKN2A/B, EBF1, ERG, ETV6, IKZF1, PAX5, and RB1 genes and the pseudoautosomal region 1 (PAR1) were ascertained, in agreement with recent guidelines. Of 36 T-cell ALL cases, the karyotypes of 24 cases (67%) were revised by SNP-A analyses that either revealed additional imbalances >5 Mb or better characterized the changes found by G-banding. Of 260 B-cell precursor (BCP) ALL cases, SNP-A analyses identified additional copy number alterations, including the above-mentioned microdeletions, or better characterized the imbalances found by G-banding in 236 (91%) cases. Furthermore, the cytogenetic subtype classification of 41/260 (16%) BCP ALL cases was revised based on the SNP-A findings. Of the subtype revisions, 12/41 (29%) had clinical implications as regards risk stratifying cytogenetic groups or genotype-specific minimal residual disease stratification. We conclude that SNP-A analyses dramatically improve the cytogenetic characterization of both T-cell and BCP ALL and also provide important information pertinent to risk stratification of BCP ALL.
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| 41. |
- Rodhe, Lena, et al.
(författare)
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Gödsling med fosfor från slam – fysikaliska egenskaper och spridningsjämnhet
- 2020
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- When developing new types of fertilizers, it is important that they have chemical and physical properties that enable good spreading precision with machine types available on the market, otherwise the products will not be used.This study included two phosphorus products made from different phosphorus extraction techniques: 1) granules (EkoBalans) consisting mainly of struvite, precipitated from drainage reject water from wastewater treatment plants, with addition of ammonium sulphate and potassium chloride, and 2) pellets (Outotec) consisting of ASH DEC P-fertilizer product made of ash from incinerated sludge. Comparisons of these products were conducted with current market fertilizer products Axan (granules) and Biofer (pellets).Physical properties of the phosphorus products and the market products were determined in terms of grain size, dimensions (pellets), strength, flow properties and bulk density. Even simpler field techniques for determining grain size and strength were used during the spreading tests.Spreader tests were conducted in the field to evaluate spreading patterns using a centrifugal spreader, one of the most common fertilizer spreaders in agriculture. Test equipment used for field testing fertilizer spreaders was used. Trays were placed in rows perpendicular to the tramline to collect the fertilizer granules over the full swath width while passing with the spreader. The contents of each tray were collected and measured to obtain scatter figures from which the spreading evenness was calculated at different effective swath widths.The general conclusion was that both tested products were spreadable with today's centrifugal spreader. However, granules performed better than pellets mainly probably because the granules had a higher mass flow, which reduces the risk of vault formation and stops in the discharge.Both commercial products, Axan and Biofer were more "homogeneous" in size than the products of recycled phosphorus. The strength of the granules from EkoBalans was almost as good as for the market product. The phosphorus pellets from Outotec and EkoBalans also had good strength, while the commercial Biofer pellets were easily broken. The Outotec pellets had the greatest mass flow, partly because their high density. There was no major difference in mass flow between the commercial Axan and EkoBalans’ recycled phosphorus granules. The granules from EkoBalans had a lower bulk density than the reference fertilizer and relatively low phosphorus concentration, which meant a high dosage (mass, volume) to spread 22 kg P/ha. Some recommended dosages can thus be greater than the current spreaders can handle.Spreading EkoBalans’ granules and Outotec's pellets with an effective swath width of 24 meter should not be a problem, and even 36 meters should be possible. However, spreader tests in the field should also optimize the spreader so that acceptable spreading uniformity is achieved at the desired working width. Fertilizers with low density and/or low plant nutrient content can result in low spreading capacity. Light granules or pellets also increase wind sensitivity when spreading.In order to get a new product on the fertilizer market, it is important that current setting recommendations for the spreaders are available. Testing of the product should also be done continuously to ensure quality over time. A test bed with stationary, automated test equipment to determine physical properties as well as to develop P setting recommendations for spreaders would increase the possibilities of getting products on the market.Key words: Fertilizer, recycled phosphorus, granules, pellets, physical properties, spreading tests, spreading evenness
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| 42. |
- Rosendahl, Erik, et al.
(författare)
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Prediction of falls among older people in residential care facilities by the Downton index
- 2003
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Ingår i: Aging Clinical and Experimental Research. - 1594-0667 .- 1720-8319. ; 15:2, s. 142-7
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND AIMS: Falls are frequent among older people living in residential care facilities. The aim of this study was to investigate the prediction accuracy of the Downton fall risk index among older people living in residential care facilities at 3, 6 and 12 months, and with two different definitions of falls. METHODS: Seventy-eight residents in one residential care facility, 56 women and 22 men, mean +/- SD age 81 +/- 6 years, participated in this study. Forty-seven percent of participants had dementia, 45% depression, and 32% previous stroke. Forty-one percent of participants used a walking device indoors, and the median score of the Barthel ADL Index was 16. At baseline, the Downton fall risk index was scored for each individual. A score of 3 or more was taken to indicate high risk of falls. Participants were followed up prospectively for 12 months, with regard to falls indoors. RESULTS: At 3, 6 and 12 months, and using a fall definition including all indoor falls, sensitivity ranged from 81 to 95% with the highest value at 3 months, and specificity ranged from 35 to 40%. The prognostic separation values ranged from 0.26 to 0.37. Within 3 months, the risk of falling was 36% in the high-risk group (index score > or = 3) and 5% in the low-risk group. The accuracy of predictions did not improve when applying a fall definition in which falls precipitated by acute illness, acute disease, or drug side-effects were excluded. CONCLUSIONS: Already after 3 months, the Downton fall risk index appears to be a useful tool for predicting falls, irrespective of their cause, among older people in residential care facilities
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| 43. |
- Rosendahl, Erik, et al.
(författare)
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Prediction of falls among older people in residential care facilities by the Downton index
- 2002
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Ingår i: Aging Clinical and Experimental Research. - 1594-0667 .- 1720-8319. ; 15:2, s. 142-147
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND AIMS: Falls are frequent among older people living in residential care facilities. The aim of this study was to investigate the prediction accuracy of the Downton fall risk index among older people living in residential care facilities at 3, 6 and 12 months, and with two different definitions of falls. METHODS: Seventy-eight residents in one residential care facility, 56 women and 22 men, mean +/- SD age 81 +/- 6 years, participated in this study. Forty-seven percent of participants had dementia, 45% depression, and 32% previous stroke. Forty-one percent of participants used a walking device indoors, and the median score of the Barthel ADL Index was 16. At baseline, the Downton fall risk index was scored for each individual. A score of 3 or more was taken to indicate high risk of falls. Participants were followed up prospectively for 12 months, with regard to falls indoors. RESULTS: At 3, 6 and 12 months, and using a fall definition including all indoor falls, sensitivity ranged from 81 to 95% with the highest value at 3 months, and specificity ranged from 35 to 40%. The prognostic separation values ranged from 0.26 to 0.37. Within 3 months, the risk of falling was 36% in the high-risk group (index score > or = 3) and 5% in the low-risk group. The accuracy of predictions did not improve when applying a fall definition in which falls precipitated by acute illness, acute disease, or drug side-effects were excluded. CONCLUSIONS: Already after 3 months, the Downton fall risk index appears to be a useful tool for predicting falls, irrespective of their cause, among older people in residential care facilities.
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| 44. |
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| 45. |
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| 46. |
- Runeson, Caroline, et al.
(författare)
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A laptop for every child? : The impact of technology on human capital formation
- 2021
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Ingår i: Labour Economics. - : Elsevier. - 0927-5371 .- 1879-1034. ; 69
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Tidskriftsartikel (refereegranskat)abstract
- Children's learning environments are becoming increasingly technologically advanced. Many schools today provide a personal computer to each pupil for use both in the classroom and at home. We investigate how such 1:1-programs affect school performance in lower secondary school. By surveying schools in 26 Swedish municipalities regarding the implementation of 1:1-programs and combining this information with rich administrative data, we estimate the impact on educational outcomes using a difference-in-differences design. We find no effect on average performance on standardized tests in mathematics or language, nor on upper secondary school enrollment. However, 1:1-initiatives seem to increase inequality by worsening the performance among low-SES students.
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| 47. |
- Soderhall, Cilla, et al.
(författare)
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A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
- 2014
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Ingår i: European Journal of Pediatric Surgery. - : Georg Thieme Verlag KG. - 1439-359X .- 0939-7248. ; 24:4, s. 353-359
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Bladder exstrophy is a rare congenital malformation of the bladder and is believed to be a complex disorder with genetic and environmental background. We describe a young adult female with an isolated bladder exstrophy and with an X chromosome aberration. Patients and Methods Karyotyping identified an X chromosome rearrangement that was further characterized with array comparative genomic hybridization (CGH) and confirmed by multiplex ligation-dependent probe amplification and fluorescence in situ hybridization (FISH) analysis. Results The identified X chromosome rearrangement in our index patient consists of a gain of chromosomal material in region Xq26.3-> qter and loss in region Xp22.12->pter. This aberration was also carried by her mother and sister, none with bladder exstrophy. All three have a disproportionate short stature, as expected due to the deletion of one of the copies of the SHOX gene on Xp22.3. X-inactivation studies revealed a complete skewed inactivation pattern in carriers. Crossover events in the maternal germline furthermore resulted in different genetic material on the rearranged X chromosome between the index patient and her sister. Conclusion Our findings suggest an X-linked genetic risk factor for bladder exstrophy.
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| 48. |
- Sonesson, Mikael, et al.
(författare)
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Salivary IgA in minor-gland saliva of children, adolescents, and young adults
- 2010
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Ingår i: Swedish Dental Journal. - 0347-9994. ; 34:4, s. 236-236
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Immunoglobulin A (IgA) is the principal immunoglobulin in human saliva and minor salivary glands contribute with approximately 30-35 % of the total salivary IgA in whole saliva. Salivary IgA is considered to be a vital component of the defence of the oral tissues and the concentration seems to increase with age. However, data on the salivary IgA-concentration in minor gland saliva of children, compared to adults, is not available. Objectives: To study the salivary IgA-concentration in minor gland saliva in defined mucosal areas, and in un-stimulated whole saliva, in children in different ages and young adults. Methods: 90 individuals were recruited: 3-year-old children (n = 30), 14-year-old children (n = 30), and young adults (n = 30). Minor gland saliva was collected on labial and buccal mucosa with filter papers and the volume was determined using a Periotron 8000. The whole saliva was collected by draining into a tube. Assessment of the salivary IgA-concentration was carried out in a sandwich ELISA. One-way ANOVA was used testing the differences between the age-groups (at the 0.05 level of significance). Results: The salivary IgA-concentration in labial gland saliva was significantly lower (p<0.05) in the 3-year-olds (3.7 mg/100 ml +/- 3.5) compared with the 14-year-olds (12.6 mg/100ml +/- 12.8) and the adults (12.8 mg/100ml +/- 13.4). In the un-stimulated whole saliva, a significantly lower salivary IgA-concentration was noted for the youngest group (9.0 mg/100ml +/-9.1) compared with the 14-year-olds (17.9 mg/100ml +/-14.9) and the adults (17.0 mg/100ml +/-9.9). Conclusion: The salivary IgA-concentration in labial and un-stimulated whole saliva seems to increase with age. This may reflect a developing specific immune response in saliva of young children. Approved by the ethical committee, Lund University. Funded by The Crafoord foundation (20090733), Swedish Patent Revenue Foundation and Faculty of Odontology, Malmö University (OD27-2009/275).
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| 49. |
- Sonesson, Mikael, et al.
(författare)
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Salivary IgA in minor-gland saliva of children, adolescents, and young adults
- 2011
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Ingår i: European Journal of Oral Sciences. - : Wiley-Blackwell. - 0909-8836 .- 1600-0722. ; 119:1, s. 15-20
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Tidskriftsartikel (refereegranskat)abstract
- According to previous studies, minor glands produce about 35% of the total salivary immunoglobulin A (salivary IgA). The age-dependent increase in whole-saliva salivary IgA concentrations has been studied extensively, but we found no published reports comparing the minor-gland saliva concentrations of salivary IgA in children, adolescents, and adults. In this study we measured the concentration of salivary IgA in saliva from the labial and the buccal minor glands of children, adolescents, and adults. Three age groups donated saliva for analysis: 3-yr-old children, 14-yr-old adolescents, and 20- to 25-yr-old adults. Minor-gland saliva was collected on filter paper and unstimulated whole saliva was collected by draining into a tube, and the salivary IgA concentration was determined by ELISA. The salivary IgA concentration in labial saliva was significantly lower among 3-yr-old children (0.037 mg 100 ml(-1), SD = 0.035) than among 14-yr-old adolescents (0.126 mg 100 ml(-1), SD = 0.128) and adults (0.128 mg 100 ml(-1), SD = 0.13). The 3-yr-old children also had significantly lower whole-saliva salivary IgA values compared with the other age groups (0.09 mg 100 ml(-1), SD = 0.091; 0.179 mg 100 ml(-1), SD = 0.149; and 0.170 mg 100 ml(-1), SD = 0.099, respectively). This increase in salivary IgA concentrations with age might reflect a developing immune response in the growing child.
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| 50. |
- Sonesson, Mikael, et al.
(författare)
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Secretory IgA in Minor Gland Saliva of Children and Adults
- 2010
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- This study determined the concentration of salivary immunoglobulin A (salivary IgA) in saliva from labial and buccal minor glands of children, adolescents, and adults. According to previous studies minor glands produce about 35% of total salivary IgA. Age-dependent increase in whole-saliva salivary IgA concentrations has been studied extensively, but we found no reports comparing minor-gland saliva concentrations of salivary IgA in children, adolescents, and adults. Three age groups donated saliva for analysis: 3-yr-olds (n = 28), 14-yr-olds (n = 27), and 20 to 25-yr-olds (n = 26). Minor-gland saliva was collected on filter paper and unstimulated whole saliva by draining into a tube and salivary IgA concentration was determined by ELISA. Salivary IgA concentration in labial saliva was significantly lower (P < 0.01) among 3-yr-olds (3.7 mg 100 ml-1, SD 3.5) compared to 14-yr-olds (12.6 mg 100ml-1, SD 12.8) and adults (12.8 mg 100ml-1, SD 13.4). The 3-yr-olds also had significantly lower (P < 0.05) whole-saliva salivary IgA values compared to the other age groups (9.0 mg 100ml-1, SD 9.1; 17.9 mg 100ml-1, SD 14.9; and 17.0 mg 100ml-1, SD 9.9, respectively). This increase in salivary IgA concentrations with age might reflect a developing immune response in the growing child
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