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| 45. |
- Cervato, Sara, et al.
(författare)
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AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED
- 2010
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Ingår i: Clinical Endocrinology. - : Wiley. - 0300-0664 .- 1365-2265. ; 73:5, s. 630-636
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Tidskriftsartikel (refereegranskat)abstract
- Objective To assess autoimmune regulator (AIRE) gene mutations, class II HLA haplotypes, and organ- or non-organ-specific autoantibodies in patients with chronic hypoparathyroidism (CH) without associated Addison's disease (AD) or chronic candidiasis (CC). Patients and Measurements Twenty-four patients who had CH without AD or CC were included in the study. AIRE gene mutations in all 14 exons were studied using PCR in 24 patients, 105 healthy controls and 15 first-degree relatives of CH patients with AIRE mutations. Human leucocyte antigens (HLA) were determined for all 24 patients and 105 healthy controls. Autoantibodies to a range of antigens including NACHT leucine-rich-repeat protein-5 (NALP5) and interferon omega (IFN omega) were tested in all 24 patients. Results AIRE gene mutations were found in 6 of 24 (25%) patients, all females, and this was significantly higher (P < 0.001) compared with AIRE mutations found in healthy controls (2/105). Three patients (12.5%) had homozygous AIRE mutations characteristic of Autoimmune-Poly-Endocrinopathy-Candidiasis-Ectodermal-Dystrophy and all three were also positive for IFN omega-autoantibodies. Three patients (12.5%) had heterozygous AIRE mutations; two of these were novel mutations. One of the patients with heterozygous AIRE mutations was positive for both NACHT leucine-rich-repeat protein 5 and IFN omega autoantibodies. Heterozygous AIRE mutations were found in 10 of 15 first-degree relatives of CH patients with AIRE mutations, although none was affected by CH. Class II HLA haplotypes were not statistically different in patients with CH compared to healthy controls. Conclusions Analysis of AIRE gene mutations together with serum autoantibody profile should be helpful in the assessment of patients with CH, in particular young women with associated autoimmune diseases.
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- Crump, Casey, et al.
(författare)
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PRETERM BIRTH AND RISK OF MEDICALLY TREATED HYPOTHYROIDISM IN YOUNG ADULTHOOD.
- 2011
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Ingår i: Clinical Endocrinology. - : Wiley. - 1365-2265 .- 0300-0664. ; 75, s. 255-260
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Previous studies suggest that low birth weight is associated with thyroid autoimmunity and hypothyroidism in later life, but the potential effect of preterm birth, independent of fetal growth, is unknown. Our objective was to determine whether preterm birth is independently associated with medically treated hypothyroidism in young adulthood. Design/Participants: National cohort study of 629,806 individuals born in Sweden from 1973 through 1979, including 27,935 born preterm (<37 weeks). Measurements: Thyroid hormone prescription during 2005-2009 (ages 25.5-37.0 years), obtained from all outpatient and inpatient pharmacies throughout Sweden. Results: Preterm birth was associated with increased relative odds of thyroid hormone prescription in young adulthood, after adjusting for fetal growth and other potential confounders. This association appeared stronger among twins than singletons (P=0.04 for the interaction). Twins had increased relative odds across the full range of preterm gestational ages, whereas singletons had increased relative odds only if born very preterm (23-31 weeks). Among twins and singletons, respectively, adjusted odds ratios for individuals born preterm (<37 weeks) were 1.54 (95% CI, 1.11-2.14) and 1.08 (95% CI, 0.98-1.19), and for individuals born very preterm (23-31 weeks) were 2.62 (95% CI, 1.30-5.27) and 1.59 (95% CI, 1.18-2.14), relative to full-term births. Conclusions: This national cohort study suggests that preterm birth is associated with an increased risk of medically treated hypothyroidism in young adulthood. This association was independent of fetal growth and appeared stronger among twins than singletons. Additional studies are needed to confirm these new findings in other populations and to elucidate the mechanisms.
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| 50. |
- Daskalakis, Kosmas, et al.
(författare)
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Recurrence and metastatic potential in Type 1 gastric neuroendocrine neoplasms
- 2019
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Ingår i: Clinical Endocrinology. - : WILEY. - 0300-0664 .- 1365-2265. ; 91:4, s. 534-543
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Tidskriftsartikel (refereegranskat)abstract
- Background The aim of our study was to assess clinico-pathological and biochemical parameters of Type 1 Gastric Neuroendocrine Neoplasms (GNEN1) with respect to tumours propensity for recurrence and metastasis. Methods Hospital charts of GNEN1 patients were reviewed at a single tertiary referral centre. Results We included 114 consecutive patients (74 women; age at baseline 54.5 +/- 12.7 years [mean +/- SD]) with GNEN1. All tumours (n = 114) were well differentiated; Grade 1 (G1) accounted for 56 patients (49%), whereas 46 (40%) were Grade 2 (G2) and 12 (11%) of unknown Grade. Overall follow-up encompassed 45.3 +/- 46 (mean +/- SD) months in 84 patients who were subjected to annual surveillance; 44 (52%) developed recurrence in the stomach during follow-up with 22 experiencing multiple recurrences; three (2.6%) presented with metastases in locoregional lymph nodes (n = 3) and/or the liver (n = 2); No metastasis or death was reported during follow-up. Median recurrence-free survival (RFS) was 31 months (95% CI: 7.6-54.4). Among clinico-pathological and biochemical parameters investigated, endoscopic intervention compared with surgery (P-value = .009) and higher serum-gastrin levels (s-gastrin) at baseline and first-year follow-up were associated with recurrence (P-value = .022 and .003 respectively) and also shorter RFS (log-rank P = .009 for type of intervention and .014 for s-gastrin, respectively). Receiver Operator Curve analysis of s-gastrin levels at first-year follow-up for recurrence demonstrated an area under the curve of 0.702. Conclusion Despite the relatively high prevalence of G2 tumours, endoscopically and/or surgically treated GNEN1 remains an indolent disease with a low metastatic propensity and no disease-specific mortality reported in our series. Many patients though will experience local recurrence, warranting long-term endoscopic surveillance with s-gastrin biomarker being a complementary tool in recurrence prediction.
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