| 1. |
- Donati, Michele, et al.
(författare)
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MAP2K1-Mutated Melanocytic Neoplasms With a SPARK-Like Morphology
- 2021
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Ingår i: American journal of dermatopathology. - : Wolters Kluwer. - 0193-1091 .- 1533-0311. ; 43:6, s. 412-417
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Tidskriftsartikel (refereegranskat)abstract
- Specific alterations involving MAPK genes (MAP3K8 fusions, MAP3K3 fusions) have been recently detected in a subgroup of spitzoid neoplasms that seem to constitute a distinctive clinicopathologic group, occur mostly in younger patients (median age 18 years) and present with atypical histologic features associated with frequent homozygous deletion of CDKN2A, qualifying a high proportion of them as Spitz melanoma (malignant Spitz tumor). Apart from lesions with spitzoid morphology harboring MAP3K8 or MAP3K3 fusion, a single case with MAP2K1 deletion has been identified. The authors report herein 4 melanocytic lesions with a MAP2K1 mutation, all showing similar microscopic appearances, including spitzoid cytology and dysplastic architectural features, resembling so-called SPARK nevus, suggesting that these lesions may represent another distinctive group.
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| 2. |
- Gkourogianni, Alexandra, et al.
(författare)
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Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment
- 2020
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Ingår i: Acta Paediatrica. - : Wiley-Blackwell Publishing Inc.. - 0803-5253 .- 1651-2227. ; 109:10, s. 2067-2074
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To explore the phenotype and response to growth hormone in patients with heterozygous-mutations in the insulin-like growth factor I receptor gene (IGF1R).METHODS: Children with short-stature, microcephaly, born SGA combined with biochemical sign of IGF-I insensitivity were analyzed for IGF1R mutations or deletions using Sanger sequencing and Multiple ligation dependent probe amplification analysis.RESULTS: In two families, a novel heterozygous non-synonymous missense IGF1R variant was identified. In family 1, c.3364G>T, p.(Gly1122Cys) was found in the proband and co-segregated perfectly with the phenotype in three generations. In family 2, a de novo variant c.3530G>A, p.(Arg1177His) was detected. Both variants were rare, not present in the GnomAD database. Three individuals carrying IGF1R mutations have received rhGH treatment. The average gain in height SDS during treatment was 0.42 (range: 0.26 - 0.60) and 0.64 (range: 0.32 - 0.86) after 1 and 2 years of treatment, respectively.CONCLUSION: Our study presents two heterozygous IGF1R mutations causing pre- and postnatal growth failure and microcephaly and also indicates that individuals with heterozygous IGF1R mutations can respond to rhGH treatment. The findings highlight that sequencing of the IGF1R should be considered in children with microcephaly and short stature due to pre- and postnatal growth failure.
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| 3. |
- Sigurgeirsson, Daniel, et al.
(författare)
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Learning Outcome Outcomes : An Evaluation of Quality
- 2018
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Ingår i: Proc. 48th ASEE/IEEE Frontiers in Education Conference. - Piscataway, NJ : IEEE Press. - 9781538611746
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Konferensbidrag (refereegranskat)abstract
- Learning outcomes are a standard specification of knowledge, skills and capabilities that a student is expected to acquire by attending a course or a degree program. While, in theory, the process of evaluating learning outcomes appears to be trivial, in practice it is a complicated and daunting process. In this study, we evaluate how learning outcomes can be effectively applied. The work focuses on the quality of both the specification of the learning outcomes and the assessment of whether these outcomes are reached. We discuss different abstraction levels for learning outcomes and the issue of alignment between high-level and low-level learning outcomes. We also address the criteria for assessing whether a student is meeting a learning outcome.Our work is focused on project-oriented courses, where assessing learning outcomes is seen as particularly challenging. In particular, we draw on an empirical study focused on systematically collecting key performance indicators of the progress towards achieving learning outcomes. The data gathering was done during the course through in-class questionnaires and individual diary notes, as a complementary process to the traditional observations made by the teacher running the course. This data serves as the basis for understanding how individual students advance towards the stated learning goals. We also conducted a focus group discussion after the course to better understand how to interpret the data collected during the course.An important result of our work is forming an understanding and vocabulary regarding learning outcomes and the assessment of how well students meet these learning goals in project-based educational settings. In addition to this, we make the following major contributions:We present a systematic methodology to gauge how well students meet learning outcomes through in-class self-evaluation.We present the results of an empirical study of a process-oriented evaluation of the students' development towards stated learning outcomes.We state some lessons learned from this process, that are applicable for designers of project-based courses.
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| 4. |
- Derraik, José G B, et al.
(författare)
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First-borns have greater BMI and are more likely to be overweight or obese : a study of sibling pairs among 26 812 Swedish women
- 2016
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Ingår i: Journal of Epidemiology and Community Health. - : BMJ. - 0143-005X .- 1470-2738. ; 70:1, s. 78-81
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: A number of large studies have shown phenotypic differences between first-borns and later-borns among adult men. In this study, we aimed to assess whether birth order was associated with height and BMI in a large cohort of Swedish women.METHODS: Information was obtained from antenatal clinic records from the Swedish National Birth Register over 20 years (1991-2009). Maternal anthropometric data early in pregnancy (at approximately 10-12 weeks of gestation) were analysed on 13 406 pairs of sisters who were either first-born or second-born (n=26 812).RESULTS: Early in pregnancy, first-born women were of BMI that was 0.57 kg/m(2) (2.4%) greater than their second-born sisters (p<0.0001). In addition, first-borns had greater odds of being overweight (OR 1.29; p<0.0001) or obese (OR 1.40; p<0.0001) than second-borns. First-borns were also negligibly taller (+1.2 mm) than their second-born sisters. Of note, there was a considerable increase in BMI over the 18-year period covered by this study, with an increment of 0.11 kg/m(2) per year (p<0.0001).CONCLUSIONS: Our study corroborates other large studies on men, and the steady reduction in family size may contribute to the observed increase in adult BMI worldwide.
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| 5. |
- Jonsson, Björn
(författare)
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Graffitins spänningsfält. En studie av graffitikultur och interventioner på en lokal arena
- 2016
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The overall aim of the thesis is to explore and analyse graffiti in a translocal context, by asking questions about the actors' view on activity, meaning and interaction. The study has been located to a physical place, Jönköping, where actors with different interest perform graffiti-related activity. The study is based on qualitative data where participant observation and interviews form the two main methods. The study also utilizes other materials, such as newspaper articles and municipal documents. Central for the theoretical orientation is that empirical data has been collected that is first-hand information on how the actors themselves find meaning in graffiti. This implies a constructivist perspective on knowledge where meaning shifts depending on whose perspective is analysed. Theoretically, the study also is linked to Becker and his arguments that research in deviance must take notice of the interaction between actors who are perceived to deviate and those actors who respond to the deviant group.The actors consist of two main groups; graffiti writers and interveners. Graffiti writers mainly consist of young men who describe themselves as belonging to a global graffiti culture. The word “interveners” has bee selected as a generic name for actors who are involved in graffiti issues due to professional duties. Similar to the graffiti writers' interveners find the meaning in graffiti by actively select information from an “outside”, which corresponds with their professional commitment. The analysis links different approaches to perspectives of combating crime, confirming art and caring for the young men's socialisation. From those different understandings, three parallel patterns of interaction are observed. Interaction developed around graffiti as a crime has elements of a battle situation. From the graffiti writers' perspective, this fight is important when designing the local scene as an integral part of a global graffiti context. At the same time there are disadvantages managing an enemy. On a personal level, individual graffiti writers have to make an estimate how graffiti writing will affect life in the long term. Interaction developed around graffiti as an art form unites graffiti writers and interveners in an ideological consensus where graffiti can be seen as an art form that adds creative qualities to urban space. One significant difference is that the graffiti writers find the local arena as an important place. This local orientation is not necessary when actors from a cultural sector put attention on graffiti. Youth workers way of caring for graffiti writers follows a tradition of social work. This approach focuses the graffiti writers themselves and how to redirect them to accepted forms of artistic expression. The youth workers have good potential to make contact, but it seems difficult to establish long-term relations because graffiti writers themselves do not find it necessary to formalize graffiti as a scheduled activity.A conclusion made is that there is something locked up about graffiti issues because actors see graffiti from their "own" perspective, and at the same time they remain critical of alternative approaches. Somewhat contradictory to an interaction structured around distinctive perceptions, the study shows that actors express uncertainty about what they are doing. Such critical self-reflections seem to be perceived as personal objections and are not shared with others. This, together with the fact that interest in graffiti comes and goes in waves, adds ambivalence to the conflictual field of graffiti. The thesis ends with a hypothetical discussion of how the conflict level could change if graffiti would be met with a differentiated policy.
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| 6. |
- Jónsson, Björn Þór, et al.
(författare)
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Aligning quality assurance at the course unit and educational program levels
- 2016
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Ingår i: Proc. 46th ASEE/IEEE Frontiers in Education Conference. - Piscataway, NJ : IEEE Press. - 9781509017904
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Konferensbidrag (refereegranskat)abstract
- Quality assurance is a subject that has grown dramatically in importance in recent times. In previous work, we have described how the ACM Curricula can be used to support the Quality Assurance process of educational programs, using the Computer Science program at Reykjavik University as an example. Faculty members and employers of graduates participated in the process, that resulted in providing both detailed quantitative data and qualitative information. The assessment also raised awareness of how abstract topics and learning outcomes from an international standard can be used when revising the curricula of a particular course in a CS program. Quality assurance is indeed a continuous process, where the results of evaluations should be used to drive improvements. In this paper we focus on how a Database course was re-structured based on a recent quality assurance process.
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| 7. |
- Oyenusi, Elizabeth E., et al.
(författare)
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Hyperglycemia in Acutely Ill Non-diabetic Children in the Emergency Rooms of 2 Tertiary Hospitals in Lagos, Nigeria
- 2016
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Ingår i: Pediatric emergency care. - 0749-5161 .- 1535-1815. ; 32:9, s. 608-613
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Tidskriftsartikel (refereegranskat)abstract
- Objectives The study aimed to determine the prevalence of hyperglycemia in sick children admitted into the emergency rooms and to investigate its relationship with adverse outcomes. Methods A prospective study involving 2 tertiary hospitals in Lagos. Study subjects included all children aged beyond 1 month. An Accu-Chek Active glucometer was used for the bedside blood glucose determination. Hyperglycemia was defined as blood glucose greater than 7.8 mmol/L. Results A total of 1045 patients were recruited with hyperglycemia being recorded in 135 patients (prevalence rate of 12.9%). Mean age of the hyperglycemic patients was 29.0 31.23 months. Prevalence rates of hyperglycemia among the leading diagnoses were 17.4% in acute respiratory tract infections, 11% in malaria, 15.3% in septicemia, 14.9% in gastroenteritis, and 18.2% in burns. Other conditions include sickle cell anemia, meningitis, and malnutrition. Mortality rate was significantly higher overall in hyperglycemic compared with the normoglycemic patients (15.4% vs 8.0%, P = 0.011). With regard to specific diagnoses, significantly higher mortality rates were recorded in hyperglycemic patients with acute respiratory tract infections (28% vs 8%, P = 0.011) and malaria (21.4% vs 5.0%, P = 0.006) than in their normoglycemic counterparts. Conclusions Hyperglycemia is common in ill children admitted to the emergency rooms and is associated with 2 to 4 times higher mortality in common childhood diseases encountered. Blood glucose determination is important in all acutely ill children at presentation. The practice of empirical administration of intravenous glucose in some resource-constrained facilities where blood glucose testing facilities are not readily available should be discouraged.
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| 8. |
- Stattin, Eva-Lena, et al.
(författare)
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Genetic screening in sudden cardiac death in the young can save future lives
- 2016
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Ingår i: International Journal of Legal Medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 130:1, s. 59-66
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Tidskriftsartikel (refereegranskat)abstract
- Autopsy of sudden cardiac death (SCD) in the young shows a structurally and histologically normal heart in about one third of cases. Sudden death in these cases is believed to be attributed in a high percentage to inherited arrhythmogenic diseases. The purpose of this study was to investigate the value of performing post-mortem genetic analysis for autopsy-negative sudden unexplained death (SUD) in 1 to 35 year olds. From January 2009 to December 2011, samples from 15 cases suffering SUD were referred to the Department of Clinical Genetics, UmeAyen University Hospital, Sweden, for molecular genetic evaluation. PCR and bidirectional Sanger sequencing of genes important for long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome type 1 (BrS1), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and RYR2) was performed. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large deletions or duplications in the LQTS genes. Six pathogenic sequence variants (four LQTS and two CPVT) were discovered in 15 SUD cases (40 %). Ten first-degree family members were found to be mutation carriers (seven LQTS and three CPVT). Cardiac ion channel genetic testing in autopsy-negative sudden death victims has a high diagnostic yield, with identification of the disease in 40 % of families. First-degree family members should be offered predictive testing, clinical evaluation, and treatment with the ultimate goal to prevent sudden death.
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| 9. |
- Bengtsson, Sara K. S., et al.
(författare)
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Isoallopregnanolone antagonize allopregnanolone-induced effects on saccadic eye velocity and self-reported sedation in humans
- 2015
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Ingår i: Psychoneuroendocrinology. - : Elsevier BV. - 0306-4530 .- 1873-3360. ; 52, s. 22-31
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Tidskriftsartikel (refereegranskat)abstract
- Allopregnanolone (AP) is an endogenous neurosteroid. It modulates the effect of gamma-amino-butyric acid (GABA) on the GABA type A (GABA(A)) receptor, which leads to increased receptor activity. Since the GABA-system is mainly inhibitory, increased AP activity leads to modulation of neuronal activity. In vitro studies of GABA(A) receptor activity and in vivo animal studies of sedation have shown that AP-induced effects can be inhibited by another endogenous steroid, namely isoallopregnanolone (ISO). In this study we investigated if ISO can antagonize AP-induced effects in healthy female volunteers, via measurements of saccadic eye velocity (SEV) and self-rated sedation. With a single-blind cross-over design, 12 women were studied on three separate occasions; given AP alone or AP in combination with one of two ISO doses. Congruent with previous reports, AP administration decreased SEV and induced sedation and these effects were diminished by simultaneous ISO administration. Also, the ISO effect modulation was seemingly stronger for SEV than for sedation. These effects were observed already at an ISO dose exposure that was approximately half of that of AP. In conclusion, ISO antagonized AP-induced decrease in SEV and self-reported sedation, probably in a non-competitive manner.
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| 10. |
- Chaplin, John, 1955, et al.
(författare)
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Growth Hormone Treatment Improves Cognitive Function in Short Children with Growth Hormone Deficiency
- 2015
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Ingår i: Hormone Research in Paediatrics. - : S. Karger AG. - 1663-2818 .- 1663-2826. ; 83:6, s. 390-399
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Tidskriftsartikel (refereegranskat)abstract
- Background/Aims: We investigated the association between cognition and growth hormone (GH) status and GH treatment in short prepubertal children with broadly ranging GH secretion. Methods: A total of 99 children (age 3-11 years), 41 with GH deficiency (GHD) and 58 with idiopathic short stature (ISS), were randomized to a fixed dose (43 mu g/kg/day) or a prediction model-guided individualized dose (17-100 mu g/kg/day) and followed up for 24 months. In a longitudinal and mixed within-and between-subjects study, we examined clinical effect size changes, measured by Cohen's d, in full-scale IQ (FSIQ) and secondary IQ indices. Results: Significant increases giving medium effect size in FSIQ (p = 0.001, Cohen's d = 0.63), performance IQ (p = 0.001, Cohen's d = 0.65) and processing speed (p = 0.005, Cohen's d = 0.71) were found in the GH-deficient group. In contrast, perceptual organization only increased in the ISS group (p = 0.001, Cohen's d = 0.53). Baseline IQ was normally distributed with small but significant differences between the groups: GH-deficient children had lower FSIQ (p = 0.042) and lower performance IQ (p = 0.021). Using multiple regression analysis, 40% of the variance in delta processing speed scores (0-24 months) was explained by GH(max) and IGF-I-SDS at baseline. Conclusion: IQ, specifically fluid intelligence, increased in the GH-deficient children. The pretreatment status of the GH/IGF-I axis was significantly predictive for these changes. (C) 2015 S. Karger AG, Basel
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