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- Fava, Cristiano, et al.
(författare)
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Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes
- 2007
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Ingår i: DNA Sequence. - : Informa UK Limited. - 1029-2365 .- 1042-5179. ; 18:5, s. 395-399
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Gitelman's syndrome (GS) is an inherited autosomal recessive disorder due to loss of function mutations in the SLC12A3 gene encoding the Na-Cl co-transporter (NCCT), the target of thiazide diuretics. The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild hypotension, hypokalemia, hyperreninemic hyperaldosteronism, mild metabolic alkalosis, hypomagnesemia and hypocalciuria. Up to now, more than 100 mutations of the SLC12A3 gene have been described in GS patients. METHODS: We have collected 30 patients from Sweden with a clinical diagnosis of GS and undertaken a mutation screening by SSCP and successive sequencing of the 26 exons and intronic boundaries. Both mutations were identified in most (n = 28, 93%) and at least one mutation was identified in all patients. RESULTS: We found 22 different mutations evenly distributed throughout the gene, 11 of which have not been described previously. The new variants include 8 missense mutations (Glu68Lys, His69Asn, Argl45His, Vall53Met, Gly230Asp, Gly342Ala, Val677Leu and Gly867Ser), 1 insertion (c.834_835insG on exon 6) and 2 splice-site mutations (c.2667 + lT>G substitution in splicing donor site after exon 22, c.1569-1G>A substitution in the splicing acceptor site before exon 13). CONCLUSION: In Swedish patients with the clinical features of GS, disease-causing mutations in the SLC12A3 gene were identified in most patients. The spectrum of GS mutations is wide making full mutation screening of the SLC12A3 gene necessary to confirm the diagnosis.
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| 2. |
- Manousou, Sofia, 1979, et al.
(författare)
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Iodine Status After Bariatric Surgery-a Prospective 10-Year Report from the Swedish Obese Subjects (SOS) Study.
- 2018
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Ingår i: Obesity surgery. - : Springer Science and Business Media LLC. - 1708-0428 .- 0960-8923. ; 28:2, s. 349-357
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Tidskriftsartikel (refereegranskat)abstract
- Bariatric surgery can lead to nutrient deficiencies. Gastric by-pass (GBP) entails restriction and malabsorption, whereas, vertical banded gastroplasty (VBG) is only restrictive.The objective of this study is to study whether GBP-patients develop iodine deficiency from malabsorption, and if GBP- and VBG-patients develop lower 24-h urinary iodine excretion (24-UIE) than obese non-operated controls (OB-controls) due to lower iodine intake.The Swedish Obese Subjects (SOS) study is a prospective, non-randomized study of 4047 obese patients included 1987-2001, who chose bariatric surgery or non-surgical treatment. SOS-groups were compared at baseline, after 2 and 10years and with population-based subsamples (MONICA-controls).One hundred eighty-eight GBP-patients were matched with 188 VBG-patients and 188 OB-controls and with three subgroups from 412 MONICA-controls.Primary outcome was 24-UIE. Secondary outcomes were iodine intake, iodine supplementation, TSH, FT4, and thyroid morbidity.At baseline, median 24-UIE was higher in GBP-patients, VBG-patients and OB-controls than in MONICA-controls (214, 201, 203 and 137μg/day, p<0.001). At 10years, 24-UIE in GBP-patients (161μg/day) and VBG-patients (149μg/day) was lower compared with baseline (p<0.01) and OB-controls (189μg/day, p<0.01), but similar to 24-UIE in MONICA-controls (137μg/day). The 10-year-dietary iodine intake was similar in GPB-patients and OB-controls, but higher in VBG-patients. Iodine supplementation was taken by 0-9% in SOS-groups.After surgery, GBP- and VBG-patients did not suffer from iodine deficiency, but both groups had lower iodine status than OB-controls. Dietary supplements recommended after bariatric surgery do not need to include iodine, in iodine sufficient countries.clinicaltrials.gov : NCT01479452.
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| 7. |
- Andersson, M, et al.
(författare)
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Adequate iodine nutrition in Sweden: a cross-sectional national study of urinary iodine concentration in school-age children.
- 2009
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Ingår i: European journal of clinical nutrition. - : Springer Science and Business Media LLC. - 0954-3007 .- 1476-5640. ; 63:7, s. 828-34
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Tidskriftsartikel (refereegranskat)abstract
- Background/Objectives:Sweden has a long-standing salt iodization program; however, its effects on iodine intake have never been monitored on a national level. The objective of this study was to evaluate iodine nutrition in the Swedish population by measuring the urinary iodine concentration (UIC) in a national sample of Swedish school-age (6-12 years of age) children.Subjects/Methods:A stratified probability proportionate to size cluster sampling method was used to obtain a representative national sample of school-age children from 30 clusters. Spot urine samples were collected for UIC analysis using a modified Sandell-Kolthoff method.Results:The median UIC of the children (n=857) was 125 mug/l (range 11-757 mug/l). The proportion of children with a UIC <100 mug/l was 30.0% and the proportion of children with a UIC <50 and >300 mug/l was 5.5 and 3.0%, respectively.Conclusions:The iodine nutritional status of the Swedish population is adequate. Iodized table salt remains the main dietary source of iodine in Swedish diet. Recommendations to reduce total salt intake in the population urge increased use of iodized salt in the production of processed foods. Pregnant and lactating women with high iodine requirements may still be at risk for low iodine intake. This study will serve as the basis for future monitoring of iodine nutritional status in Sweden.European Journal of Clinical Nutrition advance online publication, 10 September 2008; doi:10.1038/ejcn.2008.46.
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