Disorders of glucose metabolism in Prader–Willi syndrome: Results of a multicenter Italian cohort study

Fintini, Danilo; Grugni, Graziano; Bocchini, Sarah; Baratto, Claudia; Candia, Stefania Di; Corrias, Andrea; Delvecchio, Maurizio; Salvatoni, Alessandro; Ragusa, Letizia; Greggio, Nella Augusta; Franzese, Adriana; Scarano, Emanuela; Trifirò, Giuliana; Mazzanti, Laura; Chiumello, G; Cappa, Marco; Crinò, Antonino

doi:10.1016/j.numecd.2016.05.010

Cited by 54 publications

(44 citation statements)

References 27 publications

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“…In line with these findings, insulin levels and insulin resistance are usually lower in PWS patients than in obese subjects [8,10]. Accordingly, the overall risk of glucose abnormalities is less marked than in controls with comparable BMI, but worsens with aging and weight accumulation [11]. Similarly, the risk of metabolic syndrome in obese PWS adults is very close to what reported in obese controls, suggesting the crucial role of obesity status [12].…”

Section: Introductionsupporting

confidence: 63%

Circulating microRNA Associated to Different Stages of Liver Steatosis in Prader–Willi Syndrome and Non-Syndromic Obesity

Pratama

Pascut

Tamini

et al. 2020

JCM

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Background: Prader–Willi syndrome (PWS) is a rare and poorly characterized disease. Recent genomic and transcriptomic studies contributed to elucidate the molecular bases of the syndrome. In this study, we characterized the expression of circulating miRNAs in patients with PWS compared to those with non-syndromic obesity in association with liver steatosis. Methods: MiRNAs were studied by qRT-PCR in serum samples from 30 PWS and 30 non-syndromic obese subjects. Results: MiRNA expression was associated with the presence of the syndrome and to the grade of liver steatosis. MiR-122-5p, miR-151a, miR-92a-3p were up-regulated in obese (4.38-fold, p < 0.01; 2.72-fold, p < 0.05; 1.34-fold p < 0.05, respectively) and were able to differentiate obese from PWS (AUC = 0.81, sens/spec 78/71%). When stratifying groups according to the presence of steatosis, the expression of miR-151a-5p, miR-92a-3p, miR-106b-5p, and miR-93-5p were lower in PWS with steatosis grade 1. Within the group with steatosis grade 1, miR-151a-5p was significantly distinguished PWS from obese (AUC = 0.85, sens/spec 80/85%) and the combination of miR-106b-5p and miR-93-5p showed higher performances in discriminating different grades of steatosis in PWS (AUC = 0.84, sens/spec 93/74%). Conclusions: MiRNAs represent a tool to better classify and characterize PWS, providing new information about the clinical picture and the extent of steatosis.

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Section: Introductionsupporting

confidence: 63%

Circulating microRNA Associated to Different Stages of Liver Steatosis in Prader–Willi Syndrome and Non-Syndromic Obesity

Pratama

Pascut

Tamini

et al. 2020

JCM

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“…Although PWS patients are often born small for GA (SGA), the role of low birth weight in this specific clinical scenario needs to be defined. An increased risk of developing metabolic syndrome has not been reported in PWS compared to a matched population (Brambilla et al, ; Fintini et al, ; Grugni et al, ). In addition, only a few cases of atherosclerotic heart diseases have been found in PWS.…”

Section: Introductionmentioning

confidence: 99%

Anthropometric characteristics of newborns with Prader–Willi syndrome

Salvatoni

Moretti

Grugni

et al. 2019

American J of Med Genetics Pt A

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This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader-Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed. Percentile smoothed curves of birth weight and length for gestational age were built through Cole's lambda, mu, sigma method. The data were compared to normal Italian standards. Newborns with PWS showed a lower mean birth weight, by 1/2 kg, and a shorter mean birth length, by 1 cm, than healthy neonates. Females with a 15q11-13 deletion were shorter than those with maternal uniparental maternal disomy of chromosome 15 (p < .0001). The present growth curves may be useful as further traits in supporting a suspicion of PWS in a newborn. Because impaired prenatal growth increases risk of health problems later in life, having neonatal anthropometric standards could be helpful to evaluate possible correlations between the presence or absence of small gestational age and some clinical and metabolic aspects of PWS. K E Y W O R D Sgrowth, newborn, percentiles, Prader-Willi

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“…14 Prevalence of DMT2 in adults with PWS varies from 7% to 24%. [14][15][16][17][18] GH is known to induce insulin resistance, 19 which might further increase the risk for IGT and DMT2. Studies in adults with PWS, who started GH treatment in adulthood, found no negative effects of GH on glucose homeostasis during 1 year of GH.…”

Section: Introductionmentioning

confidence: 99%

Three years of growth hormone treatment in young adults with Prader‐Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome

Damen

Grootjen

Donze

et al. 2020

Clinical Endocrinology

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Context Growth hormone (GH) has been approved for children with Prader‐Willi syndrome (PWS) and significantly improves body composition in adults with PWS. Adults with PWS are predisposed to develop impaired glucose tolerance (IGT) and diabetes mellitus type 2 (DMT2). Continuation of GH maintains body composition, but GH is known to induce insulin resistance, which might affect glucose homeostasis. Studies on long‐term effects of GH treatment in adults are very limited. Objective To investigate effects of 3 years of GH treatment on glucose homeostasis and prevalence of metabolic syndrome (MS) in adults with PWS. Design Open‐label, prospective study. Patients 43 young adults with PWS. Setting Dutch PWS Reference Center. Main outcome measures Glucose and insulin during oral glucose tolerance test. Results Estimated mean (95% CI) fasting glucose and insulin levels remained stable during 3 years of GH treatment. Glucose being 4.6 (4.4‐4.8) mmol/l at start and 4.7 (4.6‐4.9) mmol/l after 3 years (P = .07); insulin being 59.5 (45.2‐75.8) pmol/l and 56.7 (45.2‐69.6) pmol/l resp. (P = .72). Sex, ethnicity and fat mass percentage were significantly associated with fasting glucose levels, while IGF‐I or GH‐dose were not. Blood pressure, lipids and prevalence of MS remained stable during 3 years of GH. IGT prevalence was variable over time, six patients had IGT at start and eleven after 3 years of GH. One patient developed DMT2. However, prevalence of IGT or DMT2 was not significantly higher after 3 years than at study start. Conclusions Three years of GH treatment in adults with PWS does not impair glucose homeostasis and does not lead to an increased prevalence of DMT2.

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Disorders of glucose metabolism in Prader–Willi syndrome: Results of a multicenter Italian cohort study

Cited by 54 publications

References 27 publications

Circulating microRNA Associated to Different Stages of Liver Steatosis in Prader–Willi Syndrome and Non-Syndromic Obesity

Circulating microRNA Associated to Different Stages of Liver Steatosis in Prader–Willi Syndrome and Non-Syndromic Obesity

Anthropometric characteristics of newborns with Prader–Willi syndrome

Three years of growth hormone treatment in young adults with Prader‐Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome

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