| 31. |
- Fahnehjelm, Kristina Teär, et al.
(författare)
-
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency
- 2012
-
Ingår i: Acta ophthalmologica. - : Wiley. - 1755-3768 .- 1755-375X. ; 90:1, s. 32-43
-
Tidskriftsartikel (refereegranskat)abstract
- Abstract. Purpose: The aims of the present study were to investigate visual function, ocular motility and ocular characteristics in children and young adults with complex I deficiency. Material and Methods: In a prospective study with longitudinal follow-up, the visual and ocular outcome in 13 patients with deficiency in complex I [nicotine-amide adenine dinucleotide (NADH) dehydrogenase] in the mitochondrial respiratory chain is presented. The patients were diagnosed during 1995-2007 and assessed during 1997-2009 at a median age of 12.8 years (range 3.1-23.4). Results: Twelve of 13 patients had visual impairment and/or ocular pathology. Four of 10 patients who co-operated in visual assessment had a best corrected decimal visual acuity of A mutation in mitochondrial DNA. Only one patient had normal visual acuity and ocular outcome including refraction and visual fields. Follow-up time was median 3.0 years (range 0-11). Conclusion: Visual impairment, ocular motility problems and OA are common in children and young adults with complex I deficiency and should prompt the paediatric ophthalmologist to consider mitochondrial disorders.
|
|
| 32. |
- Forsberg, Simon, et al.
(författare)
-
The Shepherds' Tale : A Genome-Wide Study across 9 Dog Breeds Implicates Two Loci in the Regulation of Fructosamine Serum Concentration in Belgian Shepherds
- 2015
-
Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 10:5
-
Tidskriftsartikel (refereegranskat)abstract
- Diabetes mellitus is a serious health problem in both dogs and humans. Certain dog breeds show high prevalence of the disease, whereas other breeds are at low risk. Fructosamine and glycated haemoglobin (HbA1c) are two major biomarkers of glycaemia, where serum concentrations reflect glucose turnover over the past few weeks to months. In this study, we searched for genetic factors influencing variation in serum fructosamine concentration in healthy dogs using data from nine dog breeds. Considering all breeds together, we did not find any genome-wide significant associations to fructosamine serum concentration. However, by performing breed-specific analyses we revealed an association on chromosome 3 (rho(corrected) approximate to 1:68 x 10(-6)) in Belgian shepherd dogs of the Malinois subtype. The associated region and its close neighbourhood harbours interesting candidate genes such as LETM1 and GAPDH that are important in glucose metabolism and have previously been implicated in the aetiology of diabetes mellitus. To further explore the genetics of this breed specificity, we screened the genome for reduced heterozygosity stretches private to the Belgian shepherd breed. This revealed a region with reduced heterozygosity that shows a statistically significant interaction (rho = 0.025) with the association region on chromosome 3. This region also harbours some interesting candidate genes and regulatory regions but the exact mechanisms underlying the interaction are still unknown. Nevertheless, this finding provides a plausible explanation for breed-specific genetic effects for complex traits in dogs. Shepherd breeds are at low risk of developing diabetes mellitus. The findings in Belgian shepherds could be connected to a protective mechanism against the disease. Further insight into the regulation of glucose metabolism could improve diagnostic and therapeutic methods for diabetes mellitus.
|
|
| 33. |
- Forslin, Y., et al.
(författare)
-
Gadolinium Retention in the Brain: An MRI Relaxometry Study of Linear and Macrocyclic Gadolinium-Based Contrast Agents in Multiple Sclerosis
- 2019
-
Ingår i: American Journal of Neuroradiology. - : AMER SOC NEURORADIOLOGY. - 0195-6108 .- 1936-959X. ; 40:8, s. 1265-1273
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND PURPOSE: Brain gadolinium retention is consistently reported for linear gadolinium-based contrast agents, while the results for macrocyclics are contradictory and potential clinical manifestations remain controversial. Furthermore, most previous studies are based on conventional T1-weighted MR imaging. We therefore aimed to quantitatively investigate longitudinal and transversal relaxation in the brain in relation to previous gadolinium-based contrast agent administration and explore associations with disability in multiple sclerosis. MATERIALS AND METHODS: Eighty-five patients with MS and 21 healthy controls underwent longitudinal and transverse relaxation rate (R-1 and R-2) relaxometry. Patients were divided into linear, mixed, and macrocyclic groups based on previous gadolinium-based contrast agent administration. Neuropsychological testing was performed in 53 patients. The dentate nucleus, globus pallidus, caudate nucleus, and thalamus were manually segmented. Repeatability measures were also performed. RESULTS: The relaxometry was robust (2.0% scan-rescan difference) and detected higher R-1 (dentate nucleus, globus pallidus, caudate nucleus, thalamus) and R-2 (globus pallidus, caudate nucleus) in patients receiving linear gadolinium-based contrast agents compared with controls. The number of linear gadolinium-based contrast agent administrations was associated with higher R-1 and R-2 in all regions (except R-2 in the thalamus). No similar differences and associations were found for the macrocyclic group. Higher relaxation was associated with lower information-processing speed (dentate nucleus, thalamus) and verbal fluency (caudate nucleus, thalamus). No associations were found with physical disability or fatigue. CONCLUSIONS: Previous linear, but not macrocyclic, gadolinium-based contrast agent administration is associated with higher relaxation rates in a dose-dependent manner. Higher relaxation in some regions is associated with cognitive impairment but not physical disability or fatigue in MS. The findings should be interpreted with care but encourage studies into gadolinium retention and cognition.
|
|
| 34. |
- Hellberg, Matthias, et al.
(författare)
-
Small Distal Muscles and Balance Predict Survival in End-Stage Renal Disease.
- 2014
-
Ingår i: Nephron Clinical Practice. - : S. Karger AG. - 1660-2110. ; 126:3, s. 116-123
-
Tidskriftsartikel (refereegranskat)abstract
- Background/Aims: Survival for patients on renal replacement therapy (RRT) has been shown to correlate to the level of physical activity and exercise capacity. We examined whether composite measures of functional status at the start of RRT predict survival. Methods: In this retrospective study, the same physiotherapist, using a standardized battery of tests for functional status, tested 134 patients at the start of RRT. Results: At the end of the observation period, 112 patients (84%) were still alive. Age (p < 0.0001), co-morbidity (p = 0.028), hand grip strength (right: p = 0.0065; left: p = 0.0039), standing heel rise (right: p = 0.011; left: p = 0.004) and functional reach (p = 0.015) were significant predictors of survival. After adjustment for sex, age and co-morbidity, hand grip strength left (p = 0.023) was a significant predictor of survival. Conclusion: Hand grip strength, standing heel rise and functional reach at the start of RRT seem to affect survival. A 50% reduction in hand grip strength left was associated with an almost 3-fold increase in mortality. Deterioration of function in small distal muscles and balance may be early signs of uraemic myopathy. A relatively simple and clinically feasible battery of tests can help detect patients at risk. © 2014 S. Karger AG, Basel.
|
|
| 35. |
|
|
| 36. |
- Howner, Katarina, et al.
(författare)
-
Thinner cortex in the frontal lobes in mentally disordered offenders
- 2012
-
Ingår i: Psychiatry Research. - : Elsevier BV. - 0165-1781 .- 1872-7123 .- 0925-4927. ; 203:2-3, s. 126-131
-
Tidskriftsartikel (refereegranskat)abstract
- Antisocial and violent behaviour have been associated with both structural and functional brain abnormalities in the frontal and the temporal lobes. The aim of the present study was to assess cortical thickness in offenders undergoing forensic psychiatric assessments, one group with psychopathy (PSY, n = 7) and one group with autism spectrum disorder (ASD, n = 7) compared to each other as well as to a reference group consisting of healthy non-criminal subjects (RG, n = 12). A second aim was to assess correlation between scores on a psychopathy checklist (PCL-SV) and cortical thickness. Magnetic resonance imaging (MRI) and surface-based cortical segmentation were used to calculate cortical thickness. Analyses used both regions of interest and statistical maps. When the two groups of offenders were compared, there were no differences in cortical thickness, but the PSY group had thinner cortex in the temporal lobes and in the whole right hemisphere compared to RG. There were no differences in cortical thickness between the ASD group and RG. Across subjects there was a negative correlation between PCL-SV scores and cortical thickness in the temporal lobes and the whole right hemisphere. The findings indicate that thinner cortex in the temporal lobes is present in psychopathic offenders and that these regions are important for the expression of psychopathy. However, whether thinner temporal cortex is a cause or a consequence of the antisocial behaviour is still unknown.
|
|
| 37. |
- Jonasson, Maria, et al.
(författare)
-
Sexual harassment and patterns of symptoms and functional abilities in a psychiatric sample of adolescents
- 2024
-
Ingår i: Nordic Journal of Psychiatry. - : Taylor & Francis Group. - 0803-9488 .- 1502-4725. ; 78:4, s. 290-300
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To investigate how commonly adolescent psychiatric outpatients with symptoms of depression and anxiety report having been subjected to sexual harassment, and to explore how symptoms and functional abilities differ between adolescent psychiatric outpatients with symptoms of depression and anxiety who do report and those who do not report having been subjected to sexual harassment.METHODS: Swedish adolescent psychiatric outpatients with symptoms of depression or anxiety (n = 324; 66 boys and 258 girls, aged 12-19 years, M = 15.6, SD = 1.7) answered the PROMIS paediatric measures. Logistic regression analyses were performed to assess differences between the respondents classified as 'Sexually harassed' and 'Not sexually harassed' based on these self-report questionnaires.RESULTS: About 60% of the adolescents reported having been subjected to sexual harassment, and reported higher levels of suicidal ideation, disturbed sleep, fatigue, anxiety, depression, anger, and pain interference, as well as lower functional ability in terms of school problems, alcohol consumption, and poor family relationships. Logistic regression analyses showed that the strongest associations were with suicidal ideation, disturbed sleep, anger, and alcohol consumption.CONCLUSIONS: About 60% of the adolescents in the studied psychiatric cohort reported having been subjected to sexual harassment. Reported experiences were high in all three subtypes, with the most reports on having been subjected to verbal harassment. Clinicians should ask about experiences of sexual harassment and give information about the consequences of sexual violence and treatment options. Alcohol consumption should be addressed and tested for. Structured assessment of suicidality should always be done.
|
|
| 38. |
- Jonsson, Maria, 1966-, et al.
(författare)
-
Assessment of pain in women randomly allocated to speculum or digital insertion of the Foley catheter for induction of labor
- 2011
-
Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Wiley. - 0001-6349 .- 1600-0412. ; 90:9, s. 997-1004
-
Tidskriftsartikel (refereegranskat)abstract
- ObjectiveThe primary aim was to assess pain subjectively and objectively in women during insertion of a Foley catheter for induction of labor. A secondary aim was to assess pain during cervical ripening and to evaluate maternal satisfaction.DesignRandomized controlled trial. Setting. University hospital, Sweden. Population. Forty-two women undergoing induction of labor and cervical ripening with a Foley catheter.MethodsWomen were randomly allocated to digital (n=21) or to speculum (n=21) placement of a Foley catheter. A visual analogue scale (VAS) was used for subjective assessment of pain and, for objective measurements, a skin conductance algesimeter was used and the area under the curve (AUC) was calculated (mu Ss). Maternal satisfaction was evaluated in a questionnaire. Main outcome measures. Pain sensation during placement of the Foley catheter.ResultsThere was a significant difference between groups in pain measurements during insertion of the Foley catheter. The speculum group had higher median pain scores than the digital group, VAS=5 vs. = 3 (p=0.03) and greater median AUC measurements: 1840 vs. 823 mu Ss (p=0.04). There was no difference in pain assessments during cervical ripening. Overall satisfaction scores were high and comparable between groups.ConclusionDigital placement of the Foley catheter is subjectively and objectively less painful compared to the use of a speculum. Digital placement should therefore be considered as an alternative in the management of these patients. Ripening of the cervix with the Foley catheter is well tolerated and the overall satisfaction rate among patients induced with this method is high.
|
|
| 39. |
- Jutell, Magnus, et al.
(författare)
-
Correlation between maternal and umbilical cord 25-hydroxy-vitamin D levels over a range of values. A prospective observational study from the United Arab Emirates
- 2024
-
Ingår i: PLoS ONE. - 1932-6203. ; 19:4 4
-
Tidskriftsartikel (refereegranskat)abstract
- Worldwide vitamin D insufficiency is remarkably prevalent in both children and adults, including pregnant women. The total amount of the vitamin is best measured by 25-hydroxy-vitamin D (25(OH)D), which is a measurement of total serum cholecalciferol 25 (OH)D3 and ergocalciferol 25(OH)D2. There is a known correlation between maternal and umbilical cord blood (UCB) 25(OH)D; however, whether specific maternal demographics or comorbidities influence the correlation remains uncertain. This prospective observational study was designed to study if maternal 25(OH)D levels, maternal age and BMI, amount of supplementation, mode of delivery, diabetes, hypertension/preeclampsia, or sunlight exposure had an impact on the correlation. Women were enrolled in the study at admission to the labor ward. If they agreed to participate, venous blood was directly collected and analyzed for 25(OH)D. The UCB was sampled after delivery from the unclamped cord and immediately analyzed for 25(OH)D. ANOVA, Fisher’s exact test, Pearson’s correlation, and test of the differences between correlations using Fisher’s z-transformation with Bonferroni correction were used accordingly. Of the 298 women enrolled, blood from both the mother and umbilical cord was analyzed successfully for 25(OH)D in 235 cases. The crude correlation between maternal and UCB 25(OH)D was very strong over all values of 25(OH)D (r = 0.905, R2 = 0.821, p <0,001) and remained strong independently of maternal demographics or comorbidities (r ≥ 0.803, R2 ≥ 0.644, p <0.001). For women who delivered by caesarean section in second stage the correlation was strong (r ≥ 0.633, R2 ≥ 0.4, p <0.037). Test of differences between correlations showed significant stronger correlation in women with unknown 25(OH)D3 supplementation compared to women receiving 10.000 IU/week (p = 0.02) and 20.000IU/week (p = 0.01) and that the correlation was significantly stronger for women with a BMI of 25–29.9 compared to women with a BMI of <24.9 (p = 0.004) and 30–34.9 (p = 0.002). 213 (91%) women had lower 25(OH)D compared to the neonate, with a mean difference of -13.7nmol/L (SD = 15.6). In summary, the correlation between maternal and UCB 25(OH)D is very strong throughout low to high maternal levels of 25(OH)D with lower levels in maternal blood. Typical maternal demographics and comorbidities did not affect the transition.
|
|
| 40. |
- Kristoffersen Wiberg, Maria
(författare)
-
Magnetic resonance imaging in breast diagnosis
- 2002
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- MRI of the breast has, since the introduction of gadolinium contrast agents, been increasingly used in breast investigations. MRI has been found to have a high sensitivity but a low specificity in cancer detection. The aim of this thesis was to study and establish the role of MRI in the clinical diagnosis of breast lesions. Which kind of lesions and which patients would benefit the most from MRI of the breast as an adjunct to other breast imaging modalities, and how should MRI be used in a clinical setting? In study I a comparison of the appearance of 27 lesions in two different T1-weighted 3D sequences regarding the contrast inherent in the sequences and following contrast enhancement was performed. Due to strong and widespread enhancement on the routine FLASH-sequence these lesions were examined with another T1-weighted sequence. The FLASH-sequence was found to have a high sensitivity, revealing contrast-enhancing areas, and therefore remains the first choice for routine examinations. The MPRAGE-sequence was found to increase the specificity by downgrading false positive lesions to true negatives. In study II the histological changes caused by fine needle aspiration biopsy (FNAB) that theoretically might affect the evaluation of breast lesions on semidynamic MRI was evaluated in 17 lesions. According to our result MRI can be performed irrespective of the time interval to a performed FNAB, as the evaluations were not impaired. In study III dynamic contrast enhanced MRI (CE-MRI) was found to be a valuable adjunctive method to clinical examination, mammography and FNAB (triple diagnosis,TD) due to high sensitivity, but at the cost of a decreased specificity. This decrease was less pronounced in mammographically dense breasts, and hence these patients might benefit most from CE-MRI as an adjunctive investigation. In study IV lesion size at CE-MRI and mammography were compared to histopathological size. The size of a breast cancer is of importance in the choice of treatment, in particular when breast-conserving surgery is considered. CE-MRI and mammography were both good at measuring the size of detected invasive breast malignancies. The total sizes of malignant lesions were frequently underestimated by both methods. In study V the diagnostic accuracy of CE-MRI and scinti-mammography was compared, and the clinical value as an adjunct to mammography was evaluated. Dynamic CE-MRI and 99mTc-sestamibi scinti-mammography showed comparable diagnostic accuracy, but a better accuracy was found for the combination of CE-MRI and mammography when using ROC curves for evaluation. In lesions smaller than 10 mm in size 99mTc-sestamibi scinti-mammography was found to be less reliable due to the low spatial resolution. In conclusion, MRI is a useful tool in breast diagnosis, in particular due to its high sensitivity, the ability to exclude multifocality/multicentricity and accuracy in determining size and extent of a lesion. Due to the low specificity MRI is not to be recommended as a general screening tool, but as an adjunctive method in selected cases.
|
|
