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Dr. barbara piccini
Diabetology Unit, Meyer University Children's Hospital, Florence, Italy

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0 Diabetes
0 Diabetology
0 Pediatric Endocrinology
0 Pediatrics
0 MODY

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Short Biography

Born in Siena on 28th August 1979. Maturità classica (High School Leaving Examination) in 1998, grade 58/60. Medical Doctor in September 2004, Thesis in pediatrics: “Influence of start time of treatment and levothyroxine dose on neuropsychological development in children with congenital hypothyroidism”. Grade 110/110 with honours (university of Siena, University Hospital Santa Maria alle Scotte, Siena, 6 years course). Specialization in Pediatrics in December 2009, Thesis: HLA role in the diagnostic algorithm of celiac disease: literature review and case history of Siena Pediatrics Department. Grade 70/70 with honours (university of Siena, University Hospital Santa Maria alle Scotte, Siena, 5 years course). Philosophical Doctor in “Applied Neurological Science”; Research Project title: Celiac disease and central nervous system involvement (April 2017, University of Siena, University Hospital Santa Maria alle Scotte, Siena,4 years course). 1st January 2012 to date Senior House Officer (First level MD) at Meyer University Children’s Hospital Diabetology Unit, Florence, directed by Dr. S. Toni.

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Case report
Published: 21 August 2021 in Acta Diabetologica
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ACS Style

Barbara Piccini; Emilio Casalini; Chiara Macucci; Sonia Toni. Type 1 diabetes technology management traps in a pediatric patient: not all that glitters is gold. Acta Diabetologica 2021, 1 -5.

AMA Style

Barbara Piccini, Emilio Casalini, Chiara Macucci, Sonia Toni. Type 1 diabetes technology management traps in a pediatric patient: not all that glitters is gold. Acta Diabetologica. 2021; ():1-5.

Chicago/Turabian Style

Barbara Piccini; Emilio Casalini; Chiara Macucci; Sonia Toni. 2021. "Type 1 diabetes technology management traps in a pediatric patient: not all that glitters is gold." Acta Diabetologica , no. : 1-5.

Journal article
Published: 17 August 2020 in Sustainability
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Digital health literacy (DHL) is the ability to search, understand and evaluate information from digital media and apply that knowledge to solve health problems. However, currently many citizens have not developed these skills, and this compromises not only the self-management of their health, but the possibility that health services are socially sustainable. The objective of this article was to present the objectives, activities and results of the IC-Health project whose objective was to develop a series of massive open online courses (MOOCs) to improve the DHL skills of European citizens. An exploratory report on DHL’s current evidence was developed. Furthermore, a survey, focus groups and group interviews were conducted to determine DHL levels and the needs of population cohorts (children; adolescents; pregnant and lactating women; the elderly; and people affected by type 1 and type 2 diabetes). A participation strategy with end users was designed through a community of practice for the creation of MOOCs with the seven European countries that participated in the consortium. Thirty-five MOOCs were developed in eight different languages and a descriptive and exploratory assessment of MOOCs was conducted with new participants. This first evaluation indicated that MOOCs can be an effective educational resource for DHL and a facilitator of shared decision-making processes. The process of co-creation of MOOCs, the components, the challenges and the opportunities identified in this European project could be useful for other developers of MOOCs who want to co-create interventions with beneficiaries in similar settings. Further longer-term actions are still needed to improve citizens’ DHL.

ACS Style

Lilisbeth Perestelo-Perez; Alezandra Torres-Castaño; Carina González-González; Yolanda Alvarez-Perez; Ana Toledo-Chavarri; Ana Wagner; Michelle Perello; Stephan Van Der Broucke; Gonzalo Díaz-Meneses; Barbara Piccini; Amado Rivero-Santana; Pedro Serrano-Aguilar; on behalf of the IC Project Consortium. IC-Health Project: Development of MOOCs to Promote Digital Health Literacy: First Results and Future Challenges. Sustainability 2020, 12, 6642 .

AMA Style

Lilisbeth Perestelo-Perez, Alezandra Torres-Castaño, Carina González-González, Yolanda Alvarez-Perez, Ana Toledo-Chavarri, Ana Wagner, Michelle Perello, Stephan Van Der Broucke, Gonzalo Díaz-Meneses, Barbara Piccini, Amado Rivero-Santana, Pedro Serrano-Aguilar, on behalf of the IC Project Consortium. IC-Health Project: Development of MOOCs to Promote Digital Health Literacy: First Results and Future Challenges. Sustainability. 2020; 12 (16):6642.

Chicago/Turabian Style

Lilisbeth Perestelo-Perez; Alezandra Torres-Castaño; Carina González-González; Yolanda Alvarez-Perez; Ana Toledo-Chavarri; Ana Wagner; Michelle Perello; Stephan Van Der Broucke; Gonzalo Díaz-Meneses; Barbara Piccini; Amado Rivero-Santana; Pedro Serrano-Aguilar; on behalf of the IC Project Consortium. 2020. "IC-Health Project: Development of MOOCs to Promote Digital Health Literacy: First Results and Future Challenges." Sustainability 12, no. 16: 6642.

Original article
Published: 02 December 2019 in Pediatric Diabetes
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OBJECTIVE To establish whether diabetic ketoacidosis (DKA) or HbA1c at onset is associated with year‐ three HbA1c in children with type 1 diabetes (T1D). METHODS Children with T1D from the SWEET registry, diagnosed <18 years, with documented clinical presentation, HbA1c at onset and follow‐up were included. Participants were categorized according to T1D onset: 1) DKA (DKA with coma, DKA without coma, no DKA); 2) HbA1c at onset (low (<10%), medium (10 to <12%), high (≥12%)). To adjust for demographics, linear regression was applied with interaction terms for DKA and HbA1c at onset groups (adjusted means with 95% CI). Association between year‐three HbA1c and both HbA1c and presentation at onset was analyzed (Voung test). RESULTS Among 1,420 children (54% males; median age at onset 9.1 years [Q1;Q3: 5.8;12.2]), 6% of children experienced DKA with coma, 37% DKA without coma and 57% no DKA. Year‐three HbA1c was lower in the low compared to high HbA1c at onset group, both in the DKA without coma (7.1% (6.8;7.4) vs. 7.6% (7.5;7.8), p=0.03) and in the no DKA group (7.4% (7.2;7.5) vs 7.8% (7.6;7.9), p=0.01), without differences between low and medium HbA1c at onset groups. Year‐three HbA1c did not differ among HbA1c at onset groups in the DKA with coma group. HbA1c at onset as an explanatory variable was more closely associated with year‐three HbA1c compared to presentation at onset groups (p=0.02). CONCLUSIONS Year‐three HbA1c is more closely related to HbA1c than to DKA at onset; earlier hyperglycemia detection might be crucial to improving year‐three HbA1c. This article is protected by copyright. All rights reserved.

ACS Style

Barbara Piccini; Anke Schwandt; Craig Jefferies; Olga Kordonouri; Catarina Limbert; Ilknur Arslanoglu; Roque Cardona‐Hernandez; Regis Coutant; Jae Hyun Kim; Romualdas Tomas Preiksa; Auste Pundziute Lyckå; Birgit Rami‐Merhar; Erick Richmond; Radka Savova; Sladjana Todorovic; Henk J. Veeze; Sonia Toni; For The Sweet Registry. Association of diabetic ketoacidosis and HbA1c at onset with year‐three HbA1c in children and adolescents with type 1 diabetes: Data from the International SWEET Registry. Pediatric Diabetes 2019, 21, 339 -348.

AMA Style

Barbara Piccini, Anke Schwandt, Craig Jefferies, Olga Kordonouri, Catarina Limbert, Ilknur Arslanoglu, Roque Cardona‐Hernandez, Regis Coutant, Jae Hyun Kim, Romualdas Tomas Preiksa, Auste Pundziute Lyckå, Birgit Rami‐Merhar, Erick Richmond, Radka Savova, Sladjana Todorovic, Henk J. Veeze, Sonia Toni, For The Sweet Registry. Association of diabetic ketoacidosis and HbA1c at onset with year‐three HbA1c in children and adolescents with type 1 diabetes: Data from the International SWEET Registry. Pediatric Diabetes. 2019; 21 (2):339-348.

Chicago/Turabian Style

Barbara Piccini; Anke Schwandt; Craig Jefferies; Olga Kordonouri; Catarina Limbert; Ilknur Arslanoglu; Roque Cardona‐Hernandez; Regis Coutant; Jae Hyun Kim; Romualdas Tomas Preiksa; Auste Pundziute Lyckå; Birgit Rami‐Merhar; Erick Richmond; Radka Savova; Sladjana Todorovic; Henk J. Veeze; Sonia Toni; For The Sweet Registry. 2019. "Association of diabetic ketoacidosis and HbA1c at onset with year‐three HbA1c in children and adolescents with type 1 diabetes: Data from the International SWEET Registry." Pediatric Diabetes 21, no. 2: 339-348.

Original article
Published: 13 August 2018 in Pediatric Diabetes
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Objective To describe the association between height, demographics and treatment in youths with Type 1 Diabetes participating in an international network for pediatric diabetes centers (SWEET). Methods Data were collected from 55 centers with documented patients’ height. All subjects below 20 years of age, diabetes duration >1 year, and without celiac disease were included. WHO growth charts were used to calculate height and BMI z‐scores. Multiple hierarchic regression models adjusting for known confounders were applied. Results Data on 22,941 subjects (51.8% male) were analyzed with a median and IQ range for age 14.8y (11.2; 17.6), diabetes duration 5.6y (3.1; 8.9), and height z‐score 0.34 (‐0.37; 1.03). Children were taller in the youngest age groups: adjusted height z‐score of 0.31 (± 0.06) and 0.39 (±0.06) respectively; with shorter diabetes duration (< 2y: 0.36 (± 0.06); 2‐ 3 injections /day and 0.19 ± 0.06 (0‐3 injections daily) respectively. High HbA1c and low to normal weight was associated with lower height z‐score. Trends were identical in all models except for gender. No gender differences were found except in the final height model where females exhibited higher z‐score than males. Conclusion For youths treated at centers offering modern diabetes management, major growth disturbances are virtually eliminated. For children with a young age at onset, high HbA1c, injections and/or non‐intensive diabetes, treatment still requires attention in order to attain normal growth. This article is protected by copyright. All rights reserved.

ACS Style

Jannet Svensson; Anke Schwandt; Daniele Pacaud; Jacques Beltrand; Niels Birkebæk; Roque Cardona-Hernandez; Kristina Casteels; Sofia Castro; Valentino Cherubini; Declan Cody; Naama Fisch; Dhruvi Hasnani; Olga Kordonouri; Ioanna Kosteria; Andrea Luczay; Auste Pundziute-Lyckå; Claudio Maffeis; Barbara Piccini; Poran Luxmi; Zdenek Sumnik; Carine De Beaufort; Niels H. Birkebaek; Kristina Castell. The influence of treatment, age at onset, and metabolic control on height in children and adolescents with type 1 diabetes—A SWEET collaborative study. Pediatric Diabetes 2018, 19, 1441 -1450.

AMA Style

Jannet Svensson, Anke Schwandt, Daniele Pacaud, Jacques Beltrand, Niels Birkebæk, Roque Cardona-Hernandez, Kristina Casteels, Sofia Castro, Valentino Cherubini, Declan Cody, Naama Fisch, Dhruvi Hasnani, Olga Kordonouri, Ioanna Kosteria, Andrea Luczay, Auste Pundziute-Lyckå, Claudio Maffeis, Barbara Piccini, Poran Luxmi, Zdenek Sumnik, Carine De Beaufort, Niels H. Birkebaek, Kristina Castell. The influence of treatment, age at onset, and metabolic control on height in children and adolescents with type 1 diabetes—A SWEET collaborative study. Pediatric Diabetes. 2018; 19 (8):1441-1450.

Chicago/Turabian Style

Jannet Svensson; Anke Schwandt; Daniele Pacaud; Jacques Beltrand; Niels Birkebæk; Roque Cardona-Hernandez; Kristina Casteels; Sofia Castro; Valentino Cherubini; Declan Cody; Naama Fisch; Dhruvi Hasnani; Olga Kordonouri; Ioanna Kosteria; Andrea Luczay; Auste Pundziute-Lyckå; Claudio Maffeis; Barbara Piccini; Poran Luxmi; Zdenek Sumnik; Carine De Beaufort; Niels H. Birkebaek; Kristina Castell. 2018. "The influence of treatment, age at onset, and metabolic control on height in children and adolescents with type 1 diabetes—A SWEET collaborative study." Pediatric Diabetes 19, no. 8: 1441-1450.

Original article
Published: 08 June 2018 in Diabetes, Obesity and Metabolism
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Aims To evaluate physicians’ adjustments of insulin pump settings based on continuous glucose monitoring (CGM) for patients with type 1 diabetes and to compare physicians’ to automated insulin dose adjustments. Methods 26 physicians from 16 centers in Europe, Israel and South‐America participated in the study. All were asked to adjust insulin dosing based on insulin pump, CGM and glucometer downloads of 15 patients (mean age 16.2 ± 4.3 y, 6 females, mean A1c 8.3 ± 0.9%) gathered over a 3‐week period. Recommendations were compared for the relative changes in the basal, carbohydrate‐ratio (CR) and correction‐factor (CF) plans among physicians, among centers and between the physicians and an automated algorithm (DreaMed Advisor Pro). Study endpoints were the percentage of comparison points for which there was full agreement on the trend of insulin dose adjustments (same trend), partial agreement (increase/decrease vs. no change) and full disagreement (opposite trend). Results Percentage of full agreement between physicians on the trend of insulin adjustments of the basal, CR and CF plans was 41±9%, 45±11% and 45.5±13%, and of complete disagreement was 12±7%, 9.5±7% and 10±8%, respectively. Significantly similar results were found between the physicians and the DreaMed Advisor Pro. The Advisor magnitude of insulin dose change was at least equal or less than proposed by the physicians. Conclusions Physicians provide different insulin dose recommendations based on the same data sets. The automated advice of the DreaMed Advisor Pro didn’t differ significantly from the advice given by the physicians in the direction or magnitude of the insulin dosing. This article is protected by copyright. All rights reserved.

ACS Style

Revital Nimri; Eyal Dassau; Tomer Segall; Ido Muller; Natasa Bratina; Olga Kordonouri; Rachel Bello; Torben Biester; Klemen Dovc; Ariel Tenenbaum; Avivit Brener; Marko Šimunović; Sophia D. Sakka; Michal Nevo Shenker M.D; Caroline Gb Passone M.D; Irene Rutigliano; Davide Tinti; Clara Bonura; Silvana Caiulo; Anna Ruszala; Barbara Piccini; Dinesh Giri; Ronnie Stein; Ivana Rabbone; Patrizia Bruzzi; Jasna Šuput Omladič M.D; Caroline Steele; Guglielmo Beccuti; Michal Yackobovitch-Gavan; Tadej Battelino; Thomas Danne; Eran Atlas; Moshe Phillip. Adjusting insulin doses in patients with type 1 diabetes who use insulin pump and continuous glucose monitoring: Variations among countries and physicians. Diabetes, Obesity and Metabolism 2018, 20, 2458 -2466.

AMA Style

Revital Nimri, Eyal Dassau, Tomer Segall, Ido Muller, Natasa Bratina, Olga Kordonouri, Rachel Bello, Torben Biester, Klemen Dovc, Ariel Tenenbaum, Avivit Brener, Marko Šimunović, Sophia D. Sakka, Michal Nevo Shenker M.D, Caroline Gb Passone M.D, Irene Rutigliano, Davide Tinti, Clara Bonura, Silvana Caiulo, Anna Ruszala, Barbara Piccini, Dinesh Giri, Ronnie Stein, Ivana Rabbone, Patrizia Bruzzi, Jasna Šuput Omladič M.D, Caroline Steele, Guglielmo Beccuti, Michal Yackobovitch-Gavan, Tadej Battelino, Thomas Danne, Eran Atlas, Moshe Phillip. Adjusting insulin doses in patients with type 1 diabetes who use insulin pump and continuous glucose monitoring: Variations among countries and physicians. Diabetes, Obesity and Metabolism. 2018; 20 (10):2458-2466.

Chicago/Turabian Style

Revital Nimri; Eyal Dassau; Tomer Segall; Ido Muller; Natasa Bratina; Olga Kordonouri; Rachel Bello; Torben Biester; Klemen Dovc; Ariel Tenenbaum; Avivit Brener; Marko Šimunović; Sophia D. Sakka; Michal Nevo Shenker M.D; Caroline Gb Passone M.D; Irene Rutigliano; Davide Tinti; Clara Bonura; Silvana Caiulo; Anna Ruszala; Barbara Piccini; Dinesh Giri; Ronnie Stein; Ivana Rabbone; Patrizia Bruzzi; Jasna Šuput Omladič M.D; Caroline Steele; Guglielmo Beccuti; Michal Yackobovitch-Gavan; Tadej Battelino; Thomas Danne; Eran Atlas; Moshe Phillip. 2018. "Adjusting insulin doses in patients with type 1 diabetes who use insulin pump and continuous glucose monitoring: Variations among countries and physicians." Diabetes, Obesity and Metabolism 20, no. 10: 2458-2466.

Journal article
Published: 01 March 2018 in Pediatric Diabetes
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It is known that patients with diabetes can develop limited joint mobility (LJM) and that this can depend on the metabolic control maintained and the duration of the disease. The aims of this study were to verify the presence of ankle joint mobility (AJM) deficits in both plantar and dorsiflexion in young type 1 diabetic patients (T1D) considering also the possible role of sport practiced as a further factor, able to modify AJM. AJM was evaluated by an inclinometer in 82 T1D patients (M/F: 48/34), mean age 12.9 ± 2.6 years, body mass index (BMI) 19.7 ± 3.6 kg/m2, duration of diabetes 5.6 ± 3.3 years, mean HbA1c 7.5 ± 1.0% and in 226 healthy controls (M/F: 146/80), age-, gender-, and BMI-matched practicing different sports (soccer, volleyball, basketball, and dance). The patients’ ankle range of motion was significantly lower than that in controls (132.7 ± 22.3° vs 126.1 ± 17.9°; P < .017). In particular, ankle plantar flexion was significantly lower in the patients group (31.6° ± 7.9° vs 28.5° ± 6.6°; P < .002). Soccer players showed lower AJM in both groups: patients (120.1 ± 15.9° vs 127.3 ± 18.1) and controls (119.4 ± 21.1° vs 142.0 ± 18.1; P < .0001) than subjects practicing other sports or who were sedentary. In both groups, patients and controls, age, sex, duration of disease, hemoglobin 1Ac, and BMI have not been shown to be correlated to the mobility assessed. The results of this study, in addition to confirming the negative effect of diabetes on AJM of young T1D patients, suggest that during these evaluations the sport-related effect should be considered because it can induce significant changes of AJM.

ACS Style

Piergiorgio Francia; Sonia Toni; Giulia Iannone; Giuseppe Seghieri; Barbara Piccini; Alessandro Vittori; Ugo Santosuosso; Emilio Casalini; Massimo Gulisano. Type 1 diabetes, sport practiced, and ankle joint mobility in young patients: What is the relationship? Pediatric Diabetes 2018, 19, 801 -808.

AMA Style

Piergiorgio Francia, Sonia Toni, Giulia Iannone, Giuseppe Seghieri, Barbara Piccini, Alessandro Vittori, Ugo Santosuosso, Emilio Casalini, Massimo Gulisano. Type 1 diabetes, sport practiced, and ankle joint mobility in young patients: What is the relationship? Pediatric Diabetes. 2018; 19 (4):801-808.

Chicago/Turabian Style

Piergiorgio Francia; Sonia Toni; Giulia Iannone; Giuseppe Seghieri; Barbara Piccini; Alessandro Vittori; Ugo Santosuosso; Emilio Casalini; Massimo Gulisano. 2018. "Type 1 diabetes, sport practiced, and ankle joint mobility in young patients: What is the relationship?" Pediatric Diabetes 19, no. 4: 801-808.

Case report
Published: 09 January 2018 in American Journal of Perinatology Reports
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Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes. The patient was successfully managed with insulin lispro at a 1:100 dilution, drawn up in an insulin pen injector with a 4-mm needle. The insulin lispro dilution allowed administration of the exact insulin doses, obtaining a good glycemic control and minimizing the burden of injections. At 2 months, corrected age insulin doses were progressively decreased until discontinuation.

ACS Style

Barbara Piccini; Caterina Coviello; Livia Drovandi; Artuso Rosangela; Francesca Monzali; Emilio Casalini; Sabrina Giglio; Sonia Toni; Carlo Dani. Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. American Journal of Perinatology Reports 2018, 8, e39 -e42.

AMA Style

Barbara Piccini, Caterina Coviello, Livia Drovandi, Artuso Rosangela, Francesca Monzali, Emilio Casalini, Sabrina Giglio, Sonia Toni, Carlo Dani. Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. American Journal of Perinatology Reports. 2018; 8 (1):e39-e42.

Chicago/Turabian Style

Barbara Piccini; Caterina Coviello; Livia Drovandi; Artuso Rosangela; Francesca Monzali; Emilio Casalini; Sabrina Giglio; Sonia Toni; Carlo Dani. 2018. "Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation." American Journal of Perinatology Reports 8, no. 1: e39-e42.

Original research article
Published: 23 October 2017 in Frontiers in Endocrinology
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Objectives: Circulating Endothelial Progenitor Cells (cEPCs) have been reported to be dysfunctional in Diabetes Mellitus (DM) patients, accounting for the vascular damage and the ensuing high risk for cardiovascular disease (CVD) characteristic of this disease. The aim of the present study was to evaluate the number of circulating cEPCs in type 1 DM (T1DM) patients, without clinical vascular damage, of different ages and with different disease duration. Methods: An observational, clinical-based prospective study was performed on T1DM patients enrolled in two clinical centers. cEPCs were determined by flow cytometry, determining the number of CD34/CD133/VEGF-R2 positive cells within peripheral blood mononuclear cells (PBMC). Results: The number of cEPCs was lower in adult T1DM patients, whilst higher in childhood/young patients, compared to controls of the same age range. When patients were grouped into two age groups ( or < 20 years) (and categorized on the basis of the duration of the disease), the number of cEPCs in young (< 20 years) patients was higher compared with older subjects, regardless of disease duration. A subset of patients with very high cEPCs was identified in the <20 years group. Conclusions: There is an association between the number of cEPCs and patients’age: childhood/young T1DM patients have significantly higher levels of cEPCs, respect to adult T1DM patients. Such difference is maintained also when the disease lasts for more than 10 years. The very high levels of cEPCs, identified in a subset of childhood/young patients, might protect vessels against endothelial dysfunction and damage. Such protection would be less operative in older subjects, endowed with lower cEPC numbers, in which complications are known to develop more easily.

ACS Style

Adolfo Arcangeli; Elena Lastraioli; Barbara Piccini; Massimo D’Amico; Lorenzo Lenzi; Serena Pillozzi; Maria Calabrese; Sonia Toni; Annarosa Arcangeli. Circulating Endothelial Progenitor Cells in Type 1 Diabetic Patients: Relation with Patients’ Age and Disease Duration. Frontiers in Endocrinology 2017, 8, 1 .

AMA Style

Adolfo Arcangeli, Elena Lastraioli, Barbara Piccini, Massimo D’Amico, Lorenzo Lenzi, Serena Pillozzi, Maria Calabrese, Sonia Toni, Annarosa Arcangeli. Circulating Endothelial Progenitor Cells in Type 1 Diabetic Patients: Relation with Patients’ Age and Disease Duration. Frontiers in Endocrinology. 2017; 8 ():1.

Chicago/Turabian Style

Adolfo Arcangeli; Elena Lastraioli; Barbara Piccini; Massimo D’Amico; Lorenzo Lenzi; Serena Pillozzi; Maria Calabrese; Sonia Toni; Annarosa Arcangeli. 2017. "Circulating Endothelial Progenitor Cells in Type 1 Diabetic Patients: Relation with Patients’ Age and Disease Duration." Frontiers in Endocrinology 8, no. : 1.

Journal article
Published: 01 November 2016 in European Journal of Medical Genetics
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Correct diagnosis of Maturity-Onset Diabetes of the Young (MODY) is based on genetic tests requiring an appropriate subject selection by clinicians. Mutations in the insulin (INS) gene rarely occur in patients with MODY. This study is aimed at determining the genetic background and clinical phenotype in patients with suspected MODY. 34 patients with suspected MODY, negative for mutations in the GCK, HNF1α, HNF4α, HNF1β and PDX1 genes, were screened by next generation sequencing (NGS). A heterozygous INS mutation was identified in 4 members of the same family. First genetic tests performed identified two heterozygous silent nucleotide substitutions in MODY3/HNF1α gene. An ineffective attempt to suspend insulin therapy, administering repaglinide and sulphonylureas, was made. DNA was re-sequenced by NGS investigating a set of 102 genes. Genes implicated in the pathway of pancreatic β-cells, candidate genes for type 2 diabetes mellitus and genes causative of diabetes in mice were selected. A novel heterozygous variant in human preproinsulin INS gene (c.125T > C) was found in the affected family members. The new INS mutation broadens the spectrum of possible INS phenotypes. Screening for INS mutations is warranted not only in neonatal diabetes but also in MODYx patients and in selected patients with type 1 diabetes mellitus negative for autoantibodies. Subjects with complex diseases without a specific phenotype should be studied by NGS because Sanger sequencing is ineffective and time consuming in detecting rare variants.

ACS Style

Barbara Piccini; Rosangela Artuso; Lorenzo Lenzi; Monica Guasti; Giulia Braccesi; Federica Barni; Emilio Casalini; Sabrina Giglio; Sonia Toni. Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype. European Journal of Medical Genetics 2016, 59, 590 -595.

AMA Style

Barbara Piccini, Rosangela Artuso, Lorenzo Lenzi, Monica Guasti, Giulia Braccesi, Federica Barni, Emilio Casalini, Sabrina Giglio, Sonia Toni. Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype. European Journal of Medical Genetics. 2016; 59 (11):590-595.

Chicago/Turabian Style

Barbara Piccini; Rosangela Artuso; Lorenzo Lenzi; Monica Guasti; Giulia Braccesi; Federica Barni; Emilio Casalini; Sabrina Giglio; Sonia Toni. 2016. "Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype." European Journal of Medical Genetics 59, no. 11: 590-595.

Journal article
Published: 17 October 2016 in Pediatric Diabetes
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BackgroundSeasonality at the clinical onset of type 1 diabetes (T1D) has been suggested by different studies, however, the results are conflicting. This study aimed to evaluate the presence of seasonality at clinical onset of T1D based on the SWEET database comprising data from 32 different countries.MethodsThe study cohort included 23 603 patients (52% males) recorded in the international multicenter SWEET database (48 centers), with T1D onset ≤20 years, year of onset between 1980 and 2015, gender, year and month of birth and T1D-diagnosis documented. Data were stratified according to four age groups (2009.ResultsAnalysis by month revealed significant seasonality with January being the month with the highest and June with the lowest percentage of incident cases (P < .001). Winter, early spring and late autumn months had higher percentage of incident cases compared with late spring and summer months. Stratification by age showed similar seasonality patterns in all four age groups (P ≤ .003 each), but not in children <24 months of age. There was no gender or latitude effect on seasonality pattern, however, the pattern differed by the year of onset (P < .001). Seasonality of diagnosis conformed to a sinusoidal model for all cases, females and males, age groups, northern and southern European countries.ConclusionsSeasonality at T1D clinical onset is documented by the large SWEET database with no gender or latitude (Europe only) effect except from the year of manifestation.

ACS Style

A. Gerasimidi Vazeou; O. Kordonouri; Michael Witsch; J.M. Hermann; G. Forsander; C. De Beaufort; H.J. Veeze; C. Maffeis; V. Cherubini; O. Cinek; B. Piccini; R.W. Holl; T. Danne; for the SWEET Study Group; Danièle Pacaud; Agnieszka Szypowska. Seasonality at the clinical onset of type 1 diabetes-Lessons from the SWEET database. Pediatric Diabetes 2016, 17, 32 -37.

AMA Style

A. Gerasimidi Vazeou, O. Kordonouri, Michael Witsch, J.M. Hermann, G. Forsander, C. De Beaufort, H.J. Veeze, C. Maffeis, V. Cherubini, O. Cinek, B. Piccini, R.W. Holl, T. Danne, for the SWEET Study Group, Danièle Pacaud, Agnieszka Szypowska. Seasonality at the clinical onset of type 1 diabetes-Lessons from the SWEET database. Pediatric Diabetes. 2016; 17 ():32-37.

Chicago/Turabian Style

A. Gerasimidi Vazeou; O. Kordonouri; Michael Witsch; J.M. Hermann; G. Forsander; C. De Beaufort; H.J. Veeze; C. Maffeis; V. Cherubini; O. Cinek; B. Piccini; R.W. Holl; T. Danne; for the SWEET Study Group; Danièle Pacaud; Agnieszka Szypowska. 2016. "Seasonality at the clinical onset of type 1 diabetes-Lessons from the SWEET database." Pediatric Diabetes 17, no. : 32-37.

Journal article
Published: 06 June 2016 in Diabetes Care
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The association between low HDL cholesterol (HDL-C) concentrations and increased cardiovascular risk is well established. Low HDL-C levels were found in subjects with type 1 diabetes (T1D) who presented complications and in untreated subjects with celiac disease (CD). The association between TID and CD might therefore enhance this lipid abnormality and accelerate the atherosclerotic process

ACS Style

Silvana Salardi; Giulio Maltoni; Stefano Zucchini; Dario Iafusco; Santino Confetto; Angela Zanfardino; Sonia Toni; Barbara Piccini; Maximiliano Zioutas; Marco Marigliano; Vittoria Cauvin; Roberto Franceschi; Ivana Rabbone; Barbara Predieri; Riccardo Schiaffini; Alessandro Salvatoni; Petra Reinstadler; Giulia Berioli; Valentino Cherubini; Giuseppe D’Annunzio; for the Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Celiac Disease Negatively Influences Lipid Profiles in Young Children With Type 1 Diabetes: Effect of the Gluten-Free Diet: Table 1. Diabetes Care 2016, 39, e119 -e120.

AMA Style

Silvana Salardi, Giulio Maltoni, Stefano Zucchini, Dario Iafusco, Santino Confetto, Angela Zanfardino, Sonia Toni, Barbara Piccini, Maximiliano Zioutas, Marco Marigliano, Vittoria Cauvin, Roberto Franceschi, Ivana Rabbone, Barbara Predieri, Riccardo Schiaffini, Alessandro Salvatoni, Petra Reinstadler, Giulia Berioli, Valentino Cherubini, Giuseppe D’Annunzio, for the Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Celiac Disease Negatively Influences Lipid Profiles in Young Children With Type 1 Diabetes: Effect of the Gluten-Free Diet: Table 1. Diabetes Care. 2016; 39 (8):e119-e120.

Chicago/Turabian Style

Silvana Salardi; Giulio Maltoni; Stefano Zucchini; Dario Iafusco; Santino Confetto; Angela Zanfardino; Sonia Toni; Barbara Piccini; Maximiliano Zioutas; Marco Marigliano; Vittoria Cauvin; Roberto Franceschi; Ivana Rabbone; Barbara Predieri; Riccardo Schiaffini; Alessandro Salvatoni; Petra Reinstadler; Giulia Berioli; Valentino Cherubini; Giuseppe D’Annunzio; for the Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). 2016. "Celiac Disease Negatively Influences Lipid Profiles in Young Children With Type 1 Diabetes: Effect of the Gluten-Free Diet: Table 1." Diabetes Care 39, no. 8: e119-e120.

Case reports
Published: 01 July 2014 in Blood Coagulation & Fibrinolysis
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We describe the case of a newborn presenting with multicystic encephalomalacy, hydrocephalus and bilateral hemovitreous. An underlying coagulation disorder was suspected and laboratory tests revealed severe protein C deficiency. At 25 days of life, after the appearance of purpura fulminans, replacement therapy with intravenous protein C concentrate (Ceprotin; Baxter, Vienna, Austria) was started.Due to difficulties in getting peripheral venous access and to repeated loss of the venous access, continuous subcutaneous infusion of protein C was started with an insulin pump (VEO 754; Medtronic, Minneapolis, Minnesota, USA), normally adopted in patients with type 1 diabetes mellitus. Protein C values increased into the normal range and the resolution of the purpuric skin lesion was achieved. Chronic prophylaxis with low-molecular-weight heparin failed and, due to cutaneous and cerebral recrudescence, replacement therapy with the pump was started again. The insulin pump allowed us to reduce the number of injections per day and to deal with the difficulties in getting peripheral venous access, permitting medical and paramedical staff an easier management of the therapy. The dosing schedule could be easily adapted with the insulin pump and the continuous subcutaneous administration of small amounts of protein C concentrate prevented fluctuation in trough levels of protein C. This is the first reported case of a novel, successful use of an insulin pump in an extremely rare disease, to administer a drug different from insulin, which needs to be further analyzed, underlining the importance of a multidisciplinary team approach in order to provide effective and efficient care in high-complexity diseases.

ACS Style

Barbara Piccini; Laura Capirchio; Lorenzo Lenzi; Monica Guasti; Giulia Braccesi; Cecilia Bresci; Emilio Casalini; Patrizio Fiorini; Elisabetta Agostini; Sonia Toni. Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency. Blood Coagulation & Fibrinolysis 2014, 25, 522 -526.

AMA Style

Barbara Piccini, Laura Capirchio, Lorenzo Lenzi, Monica Guasti, Giulia Braccesi, Cecilia Bresci, Emilio Casalini, Patrizio Fiorini, Elisabetta Agostini, Sonia Toni. Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency. Blood Coagulation & Fibrinolysis. 2014; 25 (5):522-526.

Chicago/Turabian Style

Barbara Piccini; Laura Capirchio; Lorenzo Lenzi; Monica Guasti; Giulia Braccesi; Cecilia Bresci; Emilio Casalini; Patrizio Fiorini; Elisabetta Agostini; Sonia Toni. 2014. "Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency." Blood Coagulation & Fibrinolysis 25, no. 5: 522-526.

Journal article
Published: 28 October 2013 in Nutrition & Diabetes
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Children and adolescents with overt type 1 diabetes (T1D) have been found to show an altered carnitine profile. This pattern has not previously been analyzed in neonates before onset of the disease. Fifty children who developed T1D during the first 6 years of life, born and living in the Tuscany and Umbria Regions of Italy, were identified and 200 controls were recruited into the study. All newborns were subjected to extended neonatal screening by mass spectrometry at 48–72 h of life. Four controls for each of the 50 index cases were taken randomly and blinded in the same analytical batch. The panel used for neonatal screening consists of 13 amino acids, free carnitine, 33 acyl-carnitines and 21 ratios. All Guthrie cards are analyzed within 2 days of collection. Total and free carnitine were found to be significantly lower in neonates who later developed T1D compared with controls. Moreover, the concentrations of the acyl-carnitines – acetyl-L-carnitine (C2), proprionylcarnitine (C3), 3-hydroxyisovalerylcarnitine (C5OH), miristoylcarnitine (C4), palmitoylcarnitine (C16) and stearoylcarnitine (C18) – were also significantly low in the cases vs controls. Furthermore, total amino-acid concentrations, expressed as the algebraic sum of all amino acids tested, showed a trend toward lower levels in cases vs controls. We found that carnitine and amino-acid deficit may be evident before the clinical appearance of T1D, possibly from birth. The evaluation of these metabolites in the neonatal period of children human leukocyte antigen genetically at ‘risk’ to develop T1D, could represent an additional tool for the prediction of T1D and could also offer the possibility to design new strategies for the primary prevention of the disease from birth. This paper demonstrates that infants with a low level of carnitine at birth have a higher risk of developing Type 1 diabetes mellitus later in childhood. While this is a retrospective cohort study and needs to be confirmed, the possibility exists that assessment of carnitine status at birth may allow identification of children who need closer follow up to intervene early in the development of diabetes. Additional studies are needed to identify the mechanisms of this finding.

ACS Style

Giancarlo la Marca; S Malvagia; S Toni; Barbara Piccini; Vincenzo Di Ciommo; G F Bottazzo. Children who develop type 1 diabetes early in life show low levels of carnitine and amino acids at birth: does this finding shed light on the etiopathogenesis of the disease? Nutrition & Diabetes 2013, 3, e94 -e94.

AMA Style

Giancarlo la Marca, S Malvagia, S Toni, Barbara Piccini, Vincenzo Di Ciommo, G F Bottazzo. Children who develop type 1 diabetes early in life show low levels of carnitine and amino acids at birth: does this finding shed light on the etiopathogenesis of the disease? Nutrition & Diabetes. 2013; 3 (10):e94-e94.

Chicago/Turabian Style

Giancarlo la Marca; S Malvagia; S Toni; Barbara Piccini; Vincenzo Di Ciommo; G F Bottazzo. 2013. "Children who develop type 1 diabetes early in life show low levels of carnitine and amino acids at birth: does this finding shed light on the etiopathogenesis of the disease?" Nutrition & Diabetes 3, no. 10: e94-e94.

Case reports
Published: 01 July 2013 in Arquivos Brasileiros de Endocrinologia & Metabologia
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The management of insulin therapy in diabetic patients who have comorbidities that involve nutritional aspects, is a major challenge for diabetes care teams. In diabetic patients with compromised nutritional status, artificial nutrition, both enteral or parenteral, may help in the treatment of chronic and acute diseases, leading to better and faster recover of the health status but, if not adequately associated with insulin therapy, it may negatively affect blood glucose levels and lead to poorer metabolic control. In particular, evidence-based recommendations for the treatment of diabetic patients during enteral nutrition therapy are not currently available and, therefore, medical practices are often based on case reports, rather than outcomes of research. We report our experience with a diabetic patient receiving nocturnal enteral feeding due to comorbidities and malnutrition, who was followed up at our centre and precociously treated with continuous subcutaneous insulin infusion after the onset of type 1 diabetes. There is great need for adequately powered randomized controlled trials to provide scientific evidence for the insulin treatment of diabetic patients undergoing enteral feeding.

ACS Style

Barbara Piccini; Sonia Toni; Lorenzo Lenzi; Federica Barni; Monica Guasti; Fina Belli; Maurizio De Martino. Specific use of CSII during enteral nocturnal nutrition in a child with type 1 diabetes, Hashimoto's thyroiditis, and Down syndrome. Arquivos Brasileiros de Endocrinologia & Metabologia 2013, 57, 388 -392.

AMA Style

Barbara Piccini, Sonia Toni, Lorenzo Lenzi, Federica Barni, Monica Guasti, Fina Belli, Maurizio De Martino. Specific use of CSII during enteral nocturnal nutrition in a child with type 1 diabetes, Hashimoto's thyroiditis, and Down syndrome. Arquivos Brasileiros de Endocrinologia & Metabologia. 2013; 57 (5):388-392.

Chicago/Turabian Style

Barbara Piccini; Sonia Toni; Lorenzo Lenzi; Federica Barni; Monica Guasti; Fina Belli; Maurizio De Martino. 2013. "Specific use of CSII during enteral nocturnal nutrition in a child with type 1 diabetes, Hashimoto's thyroiditis, and Down syndrome." Arquivos Brasileiros de Endocrinologia & Metabologia 57, no. 5: 388-392.

Evaluation study
Published: 01 May 2012 in Revista Española de Enfermedades Digestivas
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Celiac disease (CD) is an immune-mediated chronic inflammatory disease associated with HLA-DQ2 and DQ8 molecules. We evaluated the role of HLA in the CD diagnostic algorithm in order to contribute to the development of practical indications for the use of HLA typing. we selected 317 subjects typed for DR-DQ genes. CD was present in 123 patients, and 89 were included in the study; a control sample of 70 healthy individuals was recruited. 64% of patients with CD carried DQ2 heterodimer (α5β2), 13.5% carried DQ8 heterodimer without DQ2, 21.4% only showed β2 chain and 1.1% were positive for DQ2 α5 chain. The only presence of α5 chain did not predispose to CD, while DQB1*02 allele resulted more frequent than in other reports, pointing out the intrinsic correlation between β2 chain and CD. In the case-control study we observed a progression of increased risk, ranging from 1:7 for HLA-DQ2 homozygous to 1:85 for DQ8 heterozygous subjects. Overall, 8,6% of first degree family members were affected, exclusively in presence of HLA-DQ2, -DQ8 or DQB1*02, and CD was significantly more frequent among siblings than parents. Finally, considering the different patterns of clinical presentation among the HLA-DQ risk classes identified we found no relationship between CD clinical presentation and HLA-DQ risk categories. our results strengthen the evidence that HLA-DQ status strongly influences the development of CD and demonstrate that knowledge of a patient's HLA-DQ genotype allows to establish clinically relevant genetic risk profiles.

ACS Style

Barbara Piccini; Marina Vascotto; Lucia Serracca; Alice Luddi; Maria Antonietta Margollicci; Paolo Balestri; Carla Vindigni; Gabrio Bassotti; Vincenzo Villanacci. HLA-DQ typing in the diagnostic algorithm of celiac disease. Revista Española de Enfermedades Digestivas 2012, 104, 248 -254.

AMA Style

Barbara Piccini, Marina Vascotto, Lucia Serracca, Alice Luddi, Maria Antonietta Margollicci, Paolo Balestri, Carla Vindigni, Gabrio Bassotti, Vincenzo Villanacci. HLA-DQ typing in the diagnostic algorithm of celiac disease. Revista Española de Enfermedades Digestivas. 2012; 104 (5):248-254.

Chicago/Turabian Style

Barbara Piccini; Marina Vascotto; Lucia Serracca; Alice Luddi; Maria Antonietta Margollicci; Paolo Balestri; Carla Vindigni; Gabrio Bassotti; Vincenzo Villanacci. 2012. "HLA-DQ typing in the diagnostic algorithm of celiac disease." Revista Española de Enfermedades Digestivas 104, no. 5: 248-254.

Journal article
Published: 01 April 2012 in International Journal of Immunopathology and Pharmacology
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Type 1 diabetes (T1D) is a heterogeneous disorder characterized by destruction of pancreatic beta cells, culminating in loss of insulin secretion. Data from large epidemiologic studies worldwide indicate that during the last decades the incidence of T1D has increased significantly, reaching percentages of 2-5% annually. This increase suggests that there is a significant environmental contribution impacting the development of the disease, since genetic factors alone can hardly explain the rapid increase. Studies regarding T1D epidemiology in diverse populations aim to identify the disease causal factors and new targets for intervention. Viruses are one of the environmental factors implicated in the development of T1D in susceptible individuals. Recent studies suggest an association of T1D with H1N1 influenza. We would like to comment on this association and report our experience. Prospective studies are necessary to assess whether H1N1 infection is involved in T1D pathogenesis and provide directions on how to deal with viral infections in diabetes-susceptible individuals.

ACS Style

B. Piccini; S. Toni; L. Lenzi; M. Guasti; F Barni; M. De Martino; F. Barm. Type 1 diabetes onset and pandemic influenza A (H1N1). International Journal of Immunopathology and Pharmacology 2012, 25, 547 -9.

AMA Style

B. Piccini, S. Toni, L. Lenzi, M. Guasti, F Barni, M. De Martino, F. Barm. Type 1 diabetes onset and pandemic influenza A (H1N1). International Journal of Immunopathology and Pharmacology. 2012; 25 (2):547-9.

Chicago/Turabian Style

B. Piccini; S. Toni; L. Lenzi; M. Guasti; F Barni; M. De Martino; F. Barm. 2012. "Type 1 diabetes onset and pandemic influenza A (H1N1)." International Journal of Immunopathology and Pharmacology 25, no. 2: 547-9.

Journal article
Published: 15 January 2011 in Journal of the Neurological Sciences
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Oxidative stress may lead to abnormal peroxidation of membrane lipids, oxidation of sulfhydryl groups and disruption of nucleic acids. Experimental and clinical studies suggested that free radicals may be involved in the pathogenesis of epilepsy. Three groups of patients were considered in the study. Group 1 (N=34) included patients affected by epileptic encephalopathy; Group 2 (N=31) included those affected by idiopathic epilepsy syndromes and under valproic acid (VPA) monotherapy, and Group 3 (N=22) represented by healthy controls. All patients and healthy children underwent blood withdrawals to evaluate redox status by measuring levels of F2-isoprostanes (F2-iso), advanced oxidative protein products (AOPP), non-protein binding iron (NPBI), thiols (-SH groups), and total hydroperoxides (TH). In comparison to the controls, Group 1 patients showed significantly higher plasma levels of F2-iso, AOPP, and TH. By contrast, no differences there were in the plasma NPBI concentrations. Again, no statistical differences there were in the plasma levels of the oxidative stress markers between patients from Group 2 and normal subjects. Our study showed that patients with epileptic encephalopathy have increased levels of oxidative stress markers. By contrast, normal redox status was observed in patients with idiopathic epilepsy syndromes under long-term VPA monotherapy

ACS Style

Salvatore Grosso; Mariangela Longini; Antonello Rodriguez; Fabrizio Proietti; Barbara Piccini; Paolo Balestri; Giuseppe Buonocore; Barbara Piccini. Oxidative stress in children affected by epileptic encephalopathies. Journal of the Neurological Sciences 2011, 300, 103 -106.

AMA Style

Salvatore Grosso, Mariangela Longini, Antonello Rodriguez, Fabrizio Proietti, Barbara Piccini, Paolo Balestri, Giuseppe Buonocore, Barbara Piccini. Oxidative stress in children affected by epileptic encephalopathies. Journal of the Neurological Sciences. 2011; 300 (1-2):103-106.

Chicago/Turabian Style

Salvatore Grosso; Mariangela Longini; Antonello Rodriguez; Fabrizio Proietti; Barbara Piccini; Paolo Balestri; Giuseppe Buonocore; Barbara Piccini. 2011. "Oxidative stress in children affected by epileptic encephalopathies." Journal of the Neurological Sciences 300, no. 1-2: 103-106.

Comparative study
Published: 01 January 2009 in Annals of Pharmacotherapy
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BACKGROUND Valproic acid is the drug of choice for a wide variety of epileptic seizures and syndromes because of its broad spectrum of activity and because, in most patients, it is well tolerated. Although weight gain is a well-known adverse effect of valproic acid therapy, only a few studies have addressed weight gain associated with it in children aged 2–8 years. OBJECTIVE To evaluate valproic acid–associated changes in the body mass index (BMI) z-scores and to assess changes in serum triglyceride, cholesterol, and fasting glucose levels in young children receiving valproic acid treatment. METHODS Eighty-seven patients (39 females, 48 males) receiving valproic acid therapy for at least 3 months were included in the retrospective longitudinal study. Mean ± SD age at initiation of therapy was 4.8 ± 0.8 years. Changes in BMI z-scores as well as serum triglyceride, total cholesterol, and fasting glucose levels were evaluated as continuous variables and analyzed by longitudinal methods for all patients. RESULTS The average change from baseline in BMI z-scores was 0.80 (p = 0.001) at 3.1 years of follow-up. No significant change in triglyceride, cholesterol, and serum fasting glucose levels was observed over the same period. The percentage of overweight children at baseline was 6.9% and rose to 16% by the final visit (p = 0.081). CONCLUSIONS Valproic acid–associated weight gain may occur in young children. However, only 16% of patients were categorized as overweight at the end of the study; this percentage overlaps the percentage of overweight healthy young Italian children. The BMI z-scores significantly increased during the first 16 months of therapy, then appeared to level off. These observations may influence clinical practice and decision-making regarding suspending the drug due to weight gain in children in whom seizure control has been achieved. A For Our Patients summary of this article is available at www.ForOurPatients.info

ACS Style

Salvatore Grosso; Rosa Mostardini; Barbara Piccini; Paolo Balestri. Body Mass Index and Serum Lipid Changes During Treatment with Valproic Acid in Children with Epilepsy. Annals of Pharmacotherapy 2009, 43, 45 -50.

AMA Style

Salvatore Grosso, Rosa Mostardini, Barbara Piccini, Paolo Balestri. Body Mass Index and Serum Lipid Changes During Treatment with Valproic Acid in Children with Epilepsy. Annals of Pharmacotherapy. 2009; 43 (1):45-50.

Chicago/Turabian Style

Salvatore Grosso; Rosa Mostardini; Barbara Piccini; Paolo Balestri. 2009. "Body Mass Index and Serum Lipid Changes During Treatment with Valproic Acid in Children with Epilepsy." Annals of Pharmacotherapy 43, no. 1: 45-50.

Review
Published: 28 February 2007 in European Journal of Medical Genetics
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We report a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q24.3-q31.1. The patient shows postnatal growth retardation, microcephaly, ptosis, down-slanting palpebral fissures, long eyelashes and micrognathia. Halluces are long, broad and medially deviated, while the other toes are laterally deviated and remarkably short with hypoplastic phalanges. She also showed developmental delay, seizures, lack of eye contact, stereotypic and repetitive hand movements and sleep disturbances with breath holding. Prenatal and three independent postnatal karyotypes were normal. Array-CGH analysis allowed us to identify and characterize a "de novo" 2q interstitial deletion of about 10.4Mb, involving segment between cytogenetic bands 2q24.3 and 2q31.1. The deletion was confirmed by quantitative PCR. About 30 children with 2q interstitial deletion have been reported. The deletion described here is overlapping with 15 of these cases. We have attempted to compare the clinical features of our patient with 15 overlapping cases. The emerging phenotypes include low birth weight, postnatal growth retardation, mental retardation and developmental delay, microcephaly, and peculiar facial dysmorphisms. Peculiar long and broad halluces with an increased distance between the first and the second toe are ("sandal gap" sign) present in most of the described patients. The gene content analysis of the deleted region revealed the presence of some genes that may be indicated as good candidates in generating both neurological and dysmorphic phenotype in the patient. In particular, a cluster of SCNA genes is located within the deleted region and it is known that loss of function mutations in SCNA1 gene cause a severe form of epilepsy

ACS Style

C. Pescucci; R. Caselli; S. Grosso; M.A. Mencarelli; F. Mari; M.A. Farnetani; B. Piccini; R. Artuso; M. Bruttini; M. Priolo; O. Zuffardi; S. Gimelli; P. Balestri; A. Renieri. 2q24–q31 Deletion: Report of a case and review of the literature. European Journal of Medical Genetics 2007, 50, 21 -32.

AMA Style

C. Pescucci, R. Caselli, S. Grosso, M.A. Mencarelli, F. Mari, M.A. Farnetani, B. Piccini, R. Artuso, M. Bruttini, M. Priolo, O. Zuffardi, S. Gimelli, P. Balestri, A. Renieri. 2q24–q31 Deletion: Report of a case and review of the literature. European Journal of Medical Genetics. 2007; 50 (1):21-32.

Chicago/Turabian Style

C. Pescucci; R. Caselli; S. Grosso; M.A. Mencarelli; F. Mari; M.A. Farnetani; B. Piccini; R. Artuso; M. Bruttini; M. Priolo; O. Zuffardi; S. Gimelli; P. Balestri; A. Renieri. 2007. "2q24–q31 Deletion: Report of a case and review of the literature." European Journal of Medical Genetics 50, no. 1: 21-32.