| 1. |
- Kollberg, Gittan, 1963, et al.
(författare)
-
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
- 2007
-
Ingår i: The New England journal of medicine. - 1533-4406. ; 357:15, s. 1507-14
-
Tidskriftsartikel (refereegranskat)abstract
- Storage of glycogen is essential for glucose homeostasis and for energy supply during bursts of activity and sustained muscle work. We describe three siblings with profound muscle and heart glycogen deficiency caused by a homozygous stop mutation (R462-->ter) in the muscle glycogen synthase gene. The oldest brother died from sudden cardiac arrest at the age of 10.5 years. Two years later, an 11-year-old brother showed muscle fatigability, hypertrophic cardiomyopathy, and an abnormal heart rate and blood pressure while exercising; a 2-year-old sister had no symptoms. In muscle-biopsy specimens obtained from the two younger siblings, there was lack of glycogen, predominance of oxidative fibers, and mitochondrial proliferation. Glucose tolerance was normal.
|
|
| 2. |
- Lindehammer, Sabina, et al.
(författare)
-
Temporal trends of HLA genotype frequencies of type 1 diabetes patients in Sweden from 1986 to 2005 suggest altered risk
- 2008
-
Ingår i: Acta Diabetologica. - : Springer Science and Business Media LLC. - 0940-5429 .- 1432-5233. ; 45:4, s. 231-5
-
Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to compare the frequency of human leukocyte antigen (HLA) genotypes in 1-18-year-old patients with type 1 diabetes newly diagnosed in 1986-1987 (n = 430), 1996-2000 (n = 342) and in 2003-2005 (n = 171). We tested the hypothesis that the HLA DQ genotype distribution changes over time. Swedish type 1 diabetes patients and controls were typed for HLA using polymerase chain reaction amplification and allele specific probes for DQ A1* and B1* alleles. The most common type 1 diabetes HLA DQA1*-B1*genotype 0501-0201/0301-0302 was 36% (153/430) in 1986-1987 and 37% (127/342) in 1996-2000, but decreased to 19% (33/171) in 2003-2005 (P \ 0.0001). The 0501-0201/0501-0201 genotype increased from 1% in 1986-1987 to 7% in 1996-2000 (P = 0.0047) and to 5% in 2003-2005 (P > 0.05). This study in 1-18-year-old Swedish type 1 diabetes patients supports the notion that there is a temporal change in HLA risk.
|
|
| 3. |
|
|
| 4. |
- Sedimbi, S. K., et al.
(författare)
-
SUMO4 M55V polymorphism affects susceptibility to type I diabetes in HLA DR3- and DR4-positive Swedish patients
- 2007
-
Ingår i: Genes Immun. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 8:6, s. 518-21
-
Tidskriftsartikel (refereegranskat)abstract
- SUMO4 M55V, located in IDDM5, has been a focus for debate because of its association to type I diabetes (TIDM) in Asians but not in Caucasians. The current study aims to test the significance of M55V association to TIDM in a large cohort of Swedish Caucasians, and to test whether M55V is associated in those carrying human leukocyte antigen (HLA) class II molecules. A total of 673 TIDM patients and 535 age- and sex-matched healthy controls were included in the study. PCR-RFLP was performed to identify the genotype and allele variations. Our data suggest that SUMO4 M55V is not associated with susceptibility to TIDM by itself. When we stratified our patients and controls based on heterozygosity for HLA-DR3/DR4 and SUMO4 genotypes, we found that presence of SUMO4 GG increased further the relative risk conferred by HLA-DR3/DR4 to TIDM, whereas SUMO4 AA decreased the risk. From the current study, we conclude that SUMO4 M55V is associated with TIDM in association with high-risk HLA-DR3 and DR4, but not by itself.
|
|
| 5. |
- Shin, J. H., et al.
(författare)
-
IA-2 autoantibodies in incident type I diabetes patients are associated with a polyadenylation signal polymorphism in GIMAP5
- 2007
-
Ingår i: Genes Immun. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 8:6, s. 503-12
-
Tidskriftsartikel (refereegranskat)abstract
- In a large case-control study of Swedish incident type I diabetes patients and controls, 0-34 years of age, we tested the hypothesis that the GIMAP5 gene, a key genetic factor for lymphopenia in spontaneous BioBreeding rat diabetes, is associated with type I diabetes; with islet autoantibodies in incident type I diabetes patients or with age at clinical onset in incident type I diabetes patients. Initial scans of allelic association were followed by more detailed logistic regression modeling that adjusted for known type I diabetes risk factors and potential confounding variables. The single nucleotide polymorphism (SNP) rs6598, located in a polyadenylation signal of GIMAP5, was associated with the presence of significant levels of IA-2 autoantibodies in the type I diabetes patients. Patients with the minor allele A of rs6598 had an increased prevalence of IA-2 autoantibody levels compared to patients without the minor allele (OR=2.2; Bonferroni-corrected P=0.003), after adjusting for age at clinical onset (P=8.0 x 10(-13)) and the numbers of HLA-DQ A1*0501-B1*0201 haplotypes (P=2.4 x 10(-5)) and DQ A1*0301-B1*0302 haplotypes (P=0.002). GIMAP5 polymorphism was not associated with type I diabetes or with GAD65 or insulin autoantibodies, ICA, or age at clinical onset in patients. These data suggest that the GIMAP5 gene is associated with islet autoimmunity in type I diabetes and add to recent findings implicating the same SNP in another autoimmune disease.
|
|
| 6. |
- Sparud Lundin, Carina, 1964, et al.
(författare)
-
Glycaemic control and diabetes care utilization in young adults with Type 1 diabetes.
- 2008
-
Ingår i: Diabetic medicine : a journal of the British Diabetic Association. - : Wiley. - 1464-5491 .- 0742-3071. ; 25:8, s. 968-73
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To explore how glycaemic control in young adults is related to diabetes care utilization during the transition to adult diabetes care and if these variables differ between males and females. METHODS: This is a retrospective, longitudinal design following patients' records from age 18-24 years. Adolescents (n = 104) connected to one paediatric outpatient clinic and referred to six different adult clinics were included. Data were collected regarding gender, age at diagnosis and transfer, yearly glycated haemoglobin (HbA(1c)) and body mass index, severe hypoglycaemia and diabetic ketoacidosis, retinopathy and diabetes care utilization. RESULTS: HbA(1c) decreased over time in females (P = 0.004) but not in males. Less than 10% had HbA(1c) in the recommended range during the study period. The decrease in severe hypoglycaemia and diabetic ketoacidosis was not significant. The prevalence of background retinopathy increased from 5 to 29% during the study period (P < 0.001). Mean transfer age was 19.8 years. The youths visited the paediatric clinic more often than the adult clinic (P < 0.001) and females visited adult care more often than males (P = 0.04). There was a steady decrease in the number of visits/year over time (P < 0. 001). Poor glycaemic control was associated with more visits for both males and females (P = 0.005) in adult care. CONCLUSIONS: As there was no gender difference in the relation between HbA(1c) and the number of visits in adult diabetes care, the higher frequency of visits in adult care for females cannot be solely explained by their glycaemic control. Gender differences regarding diabetes care utilization should be further explored.
|
|
| 7. |
|
|
