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- Marenholz, I, et al.
(author)
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Meta-analysis identifies seven susceptibility loci involved in the atopic march
- 2015
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6, s. 8804-
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Journal article (peer-reviewed)abstract
- Eczema often precedes the development of asthma in a disease course called the ‘atopic march’. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10−8) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10−9). Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). We show that predominantly eczema loci increase the risk for the atopic march. Our findings suggest that eczema may play an important role in the development of asthma after eczema.
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- Vujasinovic, M, et al.
(author)
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Low Bone Mineral Density and Risk for Osteoporotic Fractures in Patients with Chronic Pancreatitis
- 2021
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In: Nutrients. - : MDPI AG. - 2072-6643. ; 13:7
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Journal article (peer-reviewed)abstract
- Introduction: Chronic pancreatitis (CP) can lead to malnutrition, an established risk factor for low bone mineral density (BMD) and fractures. This study aims to determine the prevalence of low BMD, assess fracture incidence and explore risk factors for fractures in patients with CP. Patients and methods: We performed a retrospective analysis of all patients treated for CP at Karolinska University Hospital between January 1999 and December 2020. Electronic medical records were retrieved to assess demographic, laboratory and clinical data. Patients subjected to dual-energy X-ray absorptiometry (DXA) were categorised as either low BMD or normal BMD. We investigated whether the rate of fractures, defined by chart review, differed between these groups using Cox regression, adjusting the model for age, sex and body mass index (BMI). Additional within-group survival analysis was conducted to identify potential risk factors. Results: DXA was performed in 23% of patients with definite CP. Some 118 patients were included in the final analysis. Low BMD was present in 63 (53.4%) patients. Mean age at CP diagnosis in the total cohort was 53.1 years and was significantly lower in patients with normal BMD than in patients with low BMD (45.5 vs. 59.8, p < 0.001). Significant differences were observed in smoking status and disease aetiology, i.e., a higher proportion of patients with low BMD were current or former smokers, with nicotine or alcohol being a more common cause of CP (p < 0.05). Total follow-up time was 898 person-years. Fractures were found in 33 (28.0%) patients: in 5 of 55 patients (16.7%) with normal DXA and in 28 of 63 patients (44.4%) with low BMD (adjusted hazard ratio = 3.4, 95% confidence interval (CI) = 1.2–9.6). Patients with at least 3 months of consecutive pancreatic enzyme replacement therapy (PERT) or vitamin D treatment had a longer median time to fracture after CP diagnosis. Conclusion: DXA was only performed in 23% of patients with definite CP in this study, indicating a low adherence to current European guidelines. A low BMD was found in 53.4% of patients with CP, and 44% of the patients with a low BMD experienced a fracture during follow-up. Moreover, the fracture rate in patients with low BMD increased compared to those with normal BMD.
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- Cronhjort, M, et al.
(author)
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Influence of the phosphate balance on the activity distribution of 99mTc-hydroxy-methylene diphosphonate. Experimental studies in the mouse
- 1998
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In: Acta radiologica (Stockholm, Sweden : 1987). - : SAGE Publications. - 0284-1851 .- 1600-0455. ; 39:4, s. 427-433
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Journal article (peer-reviewed)abstract
- Objective: The purpose was to determine whether changes in the phosphate balance have an influence on the distribution of bone-seeking radiopharmaceuticals. Material and Methods: The biodistribution of 99mTc-HDP in mice, intravenously administered under varying conditions, was assessed by removing different organs and estimating their activity in a scintillation counter. Some experiments were also performed with 99mTc-MDP and 99mTc-DPD. Results: After 1 h and 18 h on phosphate-enriched drinking water, the mice showed a strongly increased uptake in all organs/tissues representing background activity and a decrease in the bone uptake. This pattern changed with time. After 6–8 days of phosphate load, we saw a more favourable distribution with a reduction of the background and whole-body activity. Administration of hPTH 1–34 gave rise to an activity distribution similar to that after 6–8 days on phosphate-enriched water. Changing the phosphate balance had less obvious effects on the distribution of 99mTc-MDP and 99mTc-DPD. Conclusion: The activity distribution of bone-seeking radiopharmaceuticals in the mouse is affected by the phosphate balance. The mechanism behind this finding is unknown but it may be partially mediated by PTH. It is possible that changes in the phosphate balance, induced by pharmaceuticals or by dietary changes, may affect the image quality at bone scintigraphy.
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- Ekstrom, W., et al.
(author)
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Health related quality of life, reoperation rate and function in patients with diabetes mellitus and hip fracture-A 2 year follow-up study
- 2013
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In: Injury. - : Elsevier BV. - 0020-1383 .- 1879-0267. ; 44:6, s. 769-775
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Journal article (peer-reviewed)abstract
- Introduction: Diabetes mellitus confers an increased risk of hip fractures. There is a limited knowledge of how the outcome after a hip fracture in patients with diabetes affect Health Related Quality of Life (HRQoL). The primary aim of this study was to evaluate HRQoL. Secondary aims were reoperation rate, complications and functions in patients with diabetes followed for 2 years after a hip fracture. Materials and methods: Out of 2133 patients diabetes was present in 234 patients (11%). Main outcome measurements were HRQoL evaluated with EuroQoL 5-D-index score, reoperation rate, surgical and medical complications, function as walking ability, daily activities, living condition and pain. Results: Preoperatively, patients with diabetes mellitus had more pain (p = 0.044), co-morbidities, reduced health status (p = 0.001) and more often used a walking frame (p = 0.014) than patients without diabetes, whereas Katz ADL index, cognition and body mass index did not differ. There was no difference in fracture type, surgical method or reoperation between the two groups or between patients with insulin treated or oral treated diabetes. The EQ-5D(index) score decreased from 0.64 at admission to 0.45 at 4 months, 0.49 at 12 months and 0.51 at 24 months with similar results for patients with and without diabetes. During the first postoperative year there was not more medical complications among patients with diabetes, however cardiac (p = 0.023) and renal failure (p = 0.032) were more frequent in patients with diabetes at 24 months. Patients with diabetes more often had severe hip pain at 4 months (p = 0.031). At 12 months more diabetic patients were living independently (p = 0.034). There was no difference in walking ability, ADL and living condition between the groups at 24 months. Conclusion: The findings of this study indicate that patients with diabetes mellitus had more pain, co-morbidities, reduced health status preoperatively than patients without diabetes. Hip fracture patients with diabetes mellitus have more hip pain at 4 months. Cardiac and renal failure was more frequent in patients with diabetes at 24 months but otherwise we found a comparable re-operation rate, function and deterioration of Health Related Quality of Life as patients without diabetes within 2 years after a hip fracture.
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