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Sökning: WFRF:(Esposito Daniela)

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1.
  • Beecham, Ashley H, et al. (författare)
  • Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
  • 2013
  • Ingår i: Nature genetics. - : NATURE PUBLISHING GROUP, 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
  • Tidskriftsartikel (refereegranskat)abstract
    • Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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2.
  • Bothou, C., et al. (författare)
  • Current Management and Outcome of Pregnancies in Women With Adrenal Insufficiency: Experience from a Multicenter Survey
  • 2020
  • Ingår i: The Journal of clinical endocrinology and metabolism. - : Oxford University Press. - 1945-7197 .- 0021-972X. ; 105
  • Tidskriftsartikel (refereegranskat)abstract
    • CONTEXT: Appropriate management of adrenal insufficiency (AI) in pregnancy can be challenging due to the rarity of the disease and lack of evidence-based recommendations to guide glucocorticoid and mineralocorticoid dosage adjustment. OBJECTIVE: Multicenter survey on current clinical approaches in managing AI during pregnancy. DESIGN: Retrospective anonymized data collection from 19 international centers from 2013 to 2019. SETTING AND PATIENTS: 128 pregnancies in 113 women with different causes of AI: Addison disease (44%), secondary AI (25%), congenital adrenal hyperplasia (25%), and acquired AI due to bilateral adrenalectomy (6%). RESULTS: Hydrocortisone (HC) was the most commonly used glucocorticoid in 83% (97/117) of pregnancies. Glucocorticoid dosage was increased at any time during pregnancy in 73/128 (57%) of cases. In these cases, the difference in the daily dose of HC equivalent between baseline and the third trimester was 8.6 ± 5.4 (range 1-30) mg. Fludrocortisone dosage was increased in fewer cases (7/54 during the first trimester, 9/64 during the second trimester, and 9/62 cases during the third trimester). Overall, an adrenal crisis was reported in 9/128 (7%) pregnancies. Cesarean section was the most frequent mode of delivery at 58% (69/118). Fetal complications were reported in 3/120 (3%) and minor maternal complications in 15/120 (13%) pregnancies without fatal outcomes. CONCLUSIONS: This survey confirms good maternal and fetal outcome in women with AI managed in specialized endocrine centers. An emphasis on careful endocrine follow-up and repeated patient education is likely to have reduced the risk of adrenal crisis and resulted in positive outcomes. © Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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3.
  • Esposito, Daniela, et al. (författare)
  • Patients with adrenal insufficiency have cardiovascular features associated with hypovolemia
  • 2020
  • Ingår i: Endocrine. - 1355-008X. ; 70
  • Tidskriftsartikel (refereegranskat)abstract
    • Context Patients with adrenal insufficiency (AI) have excess mortality and morbidity, mainly due to cardiovascular (CV) diseases. The mechanisms for this is unclear. Objective To assess CV structure and function in AI patients on conventional replacement therapy and after switching to once-daily, modified-release hydrocortisone (OD-HC) in comparison with healthy matched controls. Methods This was a retrospective analysis of 17 adult AI patients (11 with primary AI, 6 with secondary AI) on stable replacement with cortisone acetate [median (minimum, maximum) 33.5 (12.5-50) mg] and, if needed, fludrocortisone [0.1 (0.05-0.2) mg], and 17 healthy matched controls. Ten patients were switched to an equivalent dose of OD-HC. Data from echocardiography, 24 h Holter-ECG and 24 h blood pressure monitoring were collected at baseline and 6 months after the switch to OD-HC. Results At baseline, AI patients had smaller left ventricular diastolic diameter (47.1 +/- 4.2 vs. 51.6 +/- 2.3 mm;P = 0.001) and left atrial diameter (34.9 +/- 4.7 vs. 38.2 +/- 2.6 cm;P = 0.018), and a higher ejection fraction (62.5 +/- 6.9% vs. 56.0 +/- 4.7%;P = 0.003) than controls. AI patients had lower nocturnal systolic and diastolic blood pressure than controls (108 +/- 15 mmHg vs. 117 +/- 8 mmHg;P = 0.038 and 65 +/- 9 mmHg vs. 73 +/- 7 mmHg;P = 0.008, respectively). After the switch to OD-HC, nocturnal diastolic blood pressure normalised. No significant changes were observed in echocardiographic and Holter-ECG parameters following the switch. Conclusions AI patients on conventional treatment display cardiovascular abnormalities that could be related to hypovolemia. Switch to OD-HC seems to have beneficial effect on blood pressure profile, but no effect on cardiovascular structure and function.
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4.
  • Esposito, Daniela, et al. (författare)
  • Primary Adrenal Insufficiency: Managing Mineralocorticoid Replacement Therapy.
  • 2018
  • Ingår i: The Journal of clinical endocrinology and metabolism. - 1945-7197. ; 103:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Mineralocorticoid (MC) replacement therapy in patients with primary adrenal insufficiency (PAI) was introduced more than 60 years ago. Still, there are limited data on how MC substitution should be optimized, since MC dosing regimens have only been systematically investigated in a few studies. We review the management of current standard MC replacement therapy in PAI and its plausible impact on outcome.Using PubMed, we conducted a systematic review of the literature from 1939 to 2017, with the following keywords: 'adrenal insufficiency', 'mineralocorticoid deficiency', 'aldosterone', 'cardiovascular disease', 'hypertension', and 'heart failure'.The current standard treatment consists of fludrocortisone (FC) given once daily in the morning, aiming at normotension, normokalemia, and plasma renin activity in the upper normal range. Available data suggest that patients with PAI may be under-replaced with FC as symptoms and signs indicating chronic MC under-replacement, such as salt craving and postural dizziness persist, in many treated PAI patients. Data acquired from large registry-based studies show that glucocorticoid doses for replacement in PAI are higher than those estimated from endogenous production. Glucocorticoid over-replacement may reduce the need of MC replacement but may also be a consequence of inadequate MC replacement.The commonly used MC replacement in PAI may not be adequate in some patients. Insufficient MC substitution may be responsible for poor cardiometabolic outcome and the failure to restore well-being adequately in patients with PAI. Well-designed studies oriented at optimizing MC replacement therapy are urgently needed.
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5.
  • Sawcer, Stephen, et al. (författare)
  • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
  • 2011
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 476:7359, s. 214-219
  • Tidskriftsartikel (refereegranskat)abstract
    • Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
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6.
  • Accardo, G., et al. (författare)
  • Management of cardiovascular complications in Klinefelter syndrome patients
  • 2019
  • Ingår i: Expert Review of Endocrinology and Metabolism. - 1744-6651. ; 14:2, s. 145-152
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Klinefelter syndrome (KS), also known as 47, XXY, shows increased mortality when compared with mortality rates among the general population. Cardiovascular, hemostatic, metabolic diseases are implicated. Moreover, cardiac congenital anomalies in KS can contribute to the increase in mortality. Areas covered: In this study, we have systematically reviewed the relationships between KS and the cardiovascular system and the management of cardiovascular complication. In summary, patients with KS display increased cardiovascular risk profile, characterized by increased prevalence of metabolic alterations including dyslipidemia, diabetes mellitus (DM), and abnormalities in biomarkers of cardiovascular disease. KS subjects are characterized by subclinical abnormalities in endothelial function and in left ventricular (LV) systolic and diastolic function, which–when associated with chronotropic incompetence–may negatively influence cardiopulmonary performance. Moreover, KS patients appear to be at a higher risk for cardiovascular disease, due to thromboembolic events with high prevalence of recurrent venous ulcers, venous insufficiency, recurrent venous and arterial thromboembolism leading to deep venous thrombosis or pulmonary embolism. Expert opinion: Considering the unequivocal finding of increased mortality of KS patients, we suggest a periodic cardiovascular follow up in specialized centers with multidisciplinary care teams that comprise endocrinologists and cardiologists dedicated to KS syndrome. © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group.
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7.
  • Balercia, G., et al. (författare)
  • Thyroid function in Klinefelter syndrome: a multicentre study from KING group
  • 2019
  • Ingår i: Journal of Endocrinological Investigation. - 0391-4097 .- 1720-8386. ; 42:10, s. 1199-1204
  • Tidskriftsartikel (refereegranskat)abstract
    • - Purpose: The prevalence and the etiopathogenesis of thyroid dysfunctions in Klinefelter syndrome (KS) are still unclear. The primary aim of this study was to evaluate the pathogenetic role of hypogonadism in the thyroid disorders described in KS, with the scope to distinguish between patients with KS and hypogonadism due to other causes (Kallmann syndrome, idiopathic hypogonadotropic hypogonadism, iatrogenic hypogonadism and acquired hypogonadotropic hypogonadism after surgical removal of pituitary adenomas) called non-KS. Therefore, we evaluated thyroid function in KS and in non-KS hypogonadal patients. Methods: This is a case–control multicentre study from KING group: Endocrinology clinics in university-affiliated medical centres. One hundred and seventy four KS, and sixty-two non-KS hypogonadal men were enrolled. The primary outcome was the prevalence of thyroid diseases in KS and in non-KS. Changes in hormonal parameters were evaluated. Exclusion criterion was secondary hypothyroidism. Analyses were performed using Student’s t test. Mann–Whitney test and Chi-square test. Results: FT4 was significantly lower in KS vs non-KS. KS and non-KS presented similar TSH and testosterone levels. Hashimoto’s thyroiditis (HT) was diagnosed in 7% of KS. Five KS developed hypothyroidism. The ratio FT3/FT4 was similar in both groups. TSH index was 1.9 in KS and 2.3 in non-KS. Adjustment for differences in age, sample size and concomitant disease in multivariate models did not alter the results. Conclusions: We demonstrated in KS no etiopathogenic link to hypogonadism or change in the set point of thyrotrophic control in the altered FT4 production. The prevalence of HT in KS was similar to normal male population, showing absence of increased risk of HT associated with the XXY karyotype. © 2019, Italian Society of Endocrinology (SIE).
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8.
  • Bobbio, Emanuele, et al. (författare)
  • Incidental cardiac findings on somatostatin receptor PET/CT: What do they indicate and are they of clinical relevance?
  • 2021
  • Ingår i: Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology. - 1532-6551.
  • Tidskriftsartikel (refereegranskat)abstract
    • We present the case of a 47-year-old man with a history of recurrent episodes of frontal headache, fever, and chest discomfort as well as longstanding, difficult to treat arterial hypertension. Clinical work-up revealed the unexpected finding of an underlying pheochromocytoma as well as recent "silent" myocardial infarction. Our case highlights the importance of paying attention to incidental cardiac findings on somatostatin receptor positron emission tomography/computed tomography, as routinely performed in patients with clinically suspected neuroendocrine tumors. These incidental cardiac findings cannot only indicate a primary or secondary (metastatic) neuroendocrine tumor, but also areas of myocardial inflammation, as somatostatin receptors cannot only be found on the majority of neuroendocrine tumors, but also among other tissues on the surface of activated macrophages and lymphocytes. The detection of myocardial inflammation is of clinical importance and its underlying etiology should be evaluated to prompt eventual necessary treatment, as it is a potential driving force for cardiac remodeling and poor prognosis.
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9.
  • Cannizzaro, Gioacchino, et al. (författare)
  • Immediate loading of fixed cross-arch prostheses supported by flapless-placed 5 mm or 11.5 mm long implants: 5-year results from a randomised controlled trial.
  • 2018
  • Ingår i: European journal of oral implantology. - 1756-2406. ; 11:3, s. 295-306
  • Tidskriftsartikel (refereegranskat)abstract
    • To compare the outcome of cross-arch prostheses supported either by 5 mm long or 11.5 mm long implants placed flapless and immediately restored with a metal-resin screw-retained cross-arch prostheses.Thirty patients with edentulous or to-be- rendered edentulous mandibles, and 30 with edentulous maxillas, having sufficient bone to allow the placement of four and six implants respectively, of at least 11.5 mm long, were randomised according to a parallel group design into two equal groups and received either 5 mm or 11.5 mm long implants at one centre. Implants had a diameter of 5 mm, were to be placed flapless, and with an insertion torque of at least 50 Ncm. Mandibles received four implants between the mental foramina. Implants were to be immediately loaded with metal-resin definitive prostheses the same day as implant placement. Patients were followed to 5 years post-loading and the outcome measures were: prosthesis and implant failures, complications, and peri-implant marginal bone level changes.Four patients per group dropped out. Two prostheses were remade, one on short maxillary implants and one on long mandibular implants (difference in proportions = 0; 95% CI: -0.15 to 0.15; P = 1.000). Three patients lost six short implants vs three patients who lost four long implants (difference in proportions = 0; 95% CI: -0.19 to 0.19; P = 1.000). Four short implant patients were affected by complications vs five patients with long implants (difference in proportions = 0.04; 95% CI: -0.17 to 0.25; P = 1.000). There were no statistically significant differences for prostheses failures, implant failures and complications. Patients with mandibular short implants lost on average 0.22 mm of peri-implant bone at 5 years while patients with long mandibular implants lost 0.83 mm. Patients with maxillary short implants lost on average 0.30 mm of peri-implant bone at 5 years and patients with long maxillary implants lost 0.89 mm. Short implants showed less bone loss when compared with long implants and the differences up to 5 years were statistically significant both in maxillae (mean difference = 0.59 mm, 95% CI: 0.33 to 0.86 mm, P < .0001) and in mandibles (mean difference = 0.61 mm, 95% CI: 0.36 to 0.86 mm, P < 0.0001).Flapless-placed 5 mm long implants achieved similar results as 11.5 mm long implants when supporting immediately loaded cross-arch prostheses both in maxillae and mandibles up to 5 years after loading. These results must be confirmed by other trials, and 10 years post-loading data is necessary before making reliable recommendations.
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10.
  • Cannizzaro, Gioacchino, et al. (författare)
  • Immediate loading of one (fixed-on-1) versus two (fixed-on-2) implants placed flapless supporting mandibular screw-retained cross-arch fixed prostheses: 10-month results from an explanatory randomised controlled trial.
  • 2019
  • Ingår i: International journal of oral implantology (New Malden, London, England). - 2631-6439. ; 12:1, s. 89-102
  • Tidskriftsartikel (refereegranskat)abstract
    • To evaluate the outcome of one (fixed-on-1, Fo1) versus two (fixed-on-2, Fo2) implants placed flapless in fully edentulous mandibles and immediately restored with metal-resin screw-retained cross-arch prostheses.Twenty patients with edentulous or to be rendered edentulous mandibles were randomised to the Fo1 group (10 patients who received three intraforaminal implants but only the mesial implant was actually loaded) and to the Fo2 group (10 patients who received two intraforaminal implants) according to a parallel-group design. To be immediately loaded implants had to be inserted with a minimum torque of 60 Ncm. Outcome measures were prosthesis and implant failures, complications and patient satisfaction for function and aesthetics evaluated up to 10 months post-loading.Flaps were raised in three patients of the Fo1 group and one of the Fo2 group. Two prostheses in each group were delayed loaded at 2 and 3 months, because implants could not be inserted with a torque superior to 60 Ncm. Patients of the Fo2 group received prostheses with 12 teeth whereas Fo1 patients with 8 or 10 teeth. Ten months after loading no drop-out or implant failure occurred, but one Fo2 prosthesis had to be remade because the patient complained it was too short (risk difference = 0.1; 95% CI: -0.19 to 0.40; Fisher's exact test P = 1.000). Three patients were affected by complications in each group (risk difference = 0.0; 95% CI: -0.359 to 0.359; Fisher's exact test; P = 1.000). There were no statistically significant differences for prosthetic failures and complications between groups. Four months after loading, patients of the Fo1 group were less satisfied for function than those of the Fo2 group (difference between the medians [Hodges-Lehmann estimation] = 1; 95% CI: 0 to 2; P = 0.043). No differences were observed for aesthetics (difference between the medians [Hodges-Lehmann estimation] = 0; 95% CI: -1 to 0; P = 0.481), and two Fo1 patients would not undergo the same procedure again (difference in proportions: 0.2; 95% CI: -0.11 to 0.51; P = 0.474).Preliminary results suggest that immediately loaded cross-arch screw-retained fixed prostheses with 8 to 10 teeth can be supported by only one dental implant at least up to 10 months post-loading; however, the clinical application and usefulness of such a procedure remains questionable.
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