@uniklinik-ulm.de
Department of Pediatric Endocrinology and Diabetology
University Hospital Ulm
Subspecialty in Pediatric Endocrinology and Diabetology (University Hospital Ulm, Germany)
Doctoral studies in Pediatric Diabetology (Technische Universität München)
Pediatrics, Perinatology and Child Health, Endocrinology, Diabetes and Metabolism
Scopus Publications
Scholar Citations
Scholar h-index
Scholar i10-index
Sascha Meyer, Johannes Bay, Axel R Franz, Harald Erhardt, Lars Klein, Jutta Petzinger, Christoph Binder, Susanne Kirschenhofer, Anja Stein, Britta Hüning,et al.
Elsevier BV
Eleni Z. Giannopoulou, Stefanie Zorn, Melanie Schirmer, Gloria Herrmann, Sabine Heger, Thomas Reinehr, Christian Denzer, Hannah Rabenstein, Morten Hillmer, Nadine Sowada,et al.
S. Karger AG
<b><i>Introduction:</i></b> Genetic obesity is rare and quite challenging for pediatricians in terms of early identification. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and is found to play an important role in leptin and insulin signaling and therefore in the pathogenesis of obesity and diabetes. Microdeletions in chromosome 16p11.2, encompassing the <i>SH2B1</i> gene, are known to be associated with obesity, insulin resistance, hyperphagia, and developmental delay. The aim of our study is to report on a case series of young individuals with 16p11.2 microdeletions, including the <i>SH2B1</i> gene, and provide detailed information on body mass index (BMI) development and obesity-associated comorbidities. In this way, we want to raise awareness of this syndromic form of obesity as a differential diagnosis of genetic obesity. <b><i>Methods:</i></b> We describe the phenotype of 7 children (3 male; age range: 2.8–18.0 years) with 16p11.2 microdeletions, encompassing the <i>SH2B1</i> gene, and present their BMI trajectories from birth onward. Screening for obesity-associated comorbidities was performed at the time of genetic diagnosis. <b><i>Results:</i></b> All children presented with severe, early-onset obesity already at the age of 5 years combined with variable developmental delay. Five patients presented with elevated fasting insulin levels, 1 patient developed diabetes mellitus type 2, 4 patients had dyslipidemia, and 4 developed nonalcoholic fatty-liver disease. <b><i>Discussion/Conclusion:</i></b> Chromosomal microdeletions in 16p11.2, including the <i>SH2B1</i> gene, in children are associated with severe, early-onset obesity and comorbidities associated with insulin resistance. Early genetic testing in suspicious patients and early screening for comorbidities are recommended.
Eleni Z Giannopoulou, Olga Ovcarov, Elisa De Franco, Fabian Kassberger, Susanne Nusser, Marie Celine Otto, Christian Denzer, and Martin Wabitsch
Walter de Gruyter GmbH
Abstract Objectives Neonatal diabetes mellitus (NDM) is a rare monogenic diabetes form, occurring mainly from ATP-binding cassette subfamily C member 8 (ABCC8) and KCNJ11 mutations. ABCC8 mutations have also been found to cause adult-onset diabetes. What is new?: •Novel ABCC8 mutation in an NDM case •Heterogeneous clinical presentation of diabetes and response to sulfonylurea therapy among family members with the same ABCC8 mutation. Case presentation We report the case of a newborn with NDM and a heterozygous ABCC8 novel variant (c.3835G>A), successfully treated with sulfonylurea. The same ABCC8 variant was found in two other family members, already treated for type 2 diabetes. Conclusions This case demonstrates the variable phenotypic presentation of diabetes due to a novel ABCC8 mutation (c.3835G>A), ranging from transient NDM to adult-onset, insulin-demanding diabetes, among family members. Genetic testing in young individuals with a strong family history of diabetes, presenting with non-autoimmune diabetes is recommended as it can determine prognosis and treatment of affected family members.
Eleni Z. Giannopoulou, Ioannis Doundoulakis, Christina Antza, Athanasios Christoforidis, Anna Bettina Haidich, Vasilios Kotsis, and Stella Stabouli
Hindawi Limited
Type 1 diabetes is an important risk factor for the development of cardiovascular disease. Pulse wave velocity (PWV) and carotid intima‐media thickness (cIMT) measurements are well recognized as independent predictors for future cardiovascular disease. The aim of the present study was to systematically review the literature and conduct a meta‐analysis assessing measures of subclinical arterial damage in children and adolescents with type 1 diabetes in comparison to healthy controls.
Sandra Hummel, Andreas Beyerlein, Markus Pfirrmann, Anna Hofelich, Daniela Much, Susanne Hivner, Melanie Bunk, Melanie Herbst, Claudia Peplow, Markus Walter,et al.
Elsevier BV
E. Giannopoulou, R. Furtwängler, F. Bürger, D. Schöndorf, L. Gortner, and S. Meyer
Georg Thieme Verlag KG
Giannopoulou EZ et al. Novel Mutation in an ... Klin Padiatr 2016; 228: 47–48 ∙ DOI 10.1055/s-0035-1565239 Discussion ▼ Lysosomal storage disorders are rare and complex conditions; unfortunately, there is no definite cure to date and only symptomatic therapy can be provided. NPD type A (MIM# 257200) is a fatal infantile form with neurologic degeneration. Hepatosplenomegaly is usually present by the age of 6 months and a history of recurrent pulmonary infections may be noted [Schuchman 2007]. In NPD type B (MIM# 607616), which may occur in later childhood or adulthood, neurocognitive impairment is mild or absent. The most consistent findings at presentation are hepatosplenomegaly, retinal stigmata and a highly atherogenic lipid profile in blood analysis [McGovern et al. 2008], [Schuchman 2007]. Involvement of the skeletal system is not common and may include bone fractures [McGovern et al. 2008], as in our case. Due to a broad pheno type spectrum, many cases can be classified as intermediate NPD or type A/B [Schuchman 2007], [Wasserstein et al. 2006]. More than 100 SMPD1 mutations causing NPD have been reported so far (Human Gene Mutation Database: http://www. hgmd.org), some are private and are only found among family members and others Introduction ▼ Niemann-Pick disease (NPD) is a rare autosomal recessively inherited lysosomal storage disorder caused by the deficiency of lysosomal acid sphingomyelinase, which is encoded by the sphingomyelin phosphodiesterase-1 (SMPD1, MIM# 607608) gene [Schuchman et al. 1991]. This defect results in the accumulation of sphingomyelin and other lipids within cells of the monocyte-macrophage system. Here, we report on an infant with a new frameshift mutation (c.575dupG) of the SMPD1 gene.
Eleni Z. Giannopoulou, Christiane Winkler, Ruth Chmiel, Claudia Matzke, Marlon Scholz, Andreas Beyerlein, Peter Achenbach, Ezio Bonifacio, and Anette-G. Ziegler
Springer Science and Business Media LLC
Eleni Z. Giannopoulou, Tilman Rohrer, Paul Hoffmann, Umut Yilmaz, Ludwig Gortner, and Sascha Meyer
Elsevier BV
Sascha Meyer and Eleni Z. Giannopoulou
Elsevier BV
Eleni Z. Giannopoulou, Ludwig Gortner, Clemens-Magnus Meier, and Sascha Meyer
Elsevier BV
Ruth Chmiel, Eleni Z. Giannopoulou, Christiane Winkler, Peter Achenbach, Anette-Gabriele Ziegler, and Ezio Bonifacio
Springer Science and Business Media LLC
Perrine Duppré, Harald Sauer, Eleni Z. Giannopoulou, Ludwig Gortner, Holger Nunold, Stefan Wagenpfeil, Jürgen Geisel, Bernhard Stephan, and Sascha Meyer
Elsevier BV
Christiane Winkler, Jan Krumsiek, Florian Buettner, Christof Angermüller, Eleni Z. Giannopoulou, Fabian J. Theis, Anette-Gabriele Ziegler, and Ezio Bonifacio
Springer Science and Business Media LLC
Christiane Winkler, Jan Krumsiek, Florian Buettner, Christof Angermüller, Eleni Z. Giannopoulou, Fabian J. Theis, Anette-Gabriele Ziegler, and Ezio Bonifacio
Springer Science and Business Media LLC
Jennifer Raab, Eleni Z. Giannopoulou, Simone Schneider, Katharina Warncke, Miriam Krasmann, Christiane Winkler, and Anette-Gabriele Ziegler
Springer Science and Business Media LLC
Eleni Z Giannopoulou, Ramona Puff, Andreas Beyerlein, Irene von Luettichau, Heike Boerschmann, Desmond Schatz, Mark Atkinson, Michael J Haller, Dietmar Egger, Stefan Burdach,et al.
Hindawi Limited
The application of autologous cord blood in children with type 1 diabetes has been found to be safe, but not to preserve beta‐cell function in a previous study, which, however, had not included a control group.
M. Harsunen, R. Puff, O. D'Orlando, E. Giannopoulou, L. Lachmann, A. Beyerlein, A. von Meyer, and A.-G. Ziegler
Georg Thieme Verlag KG
Abstract Very little is known about the role of the innate immune system in the course of human type 1 diabetes. Here we investigated neutrophil numbers along with other leukocyte populations in patients at diagnosis of type 1 diabetes and during prediabetes. Complete and differential blood counts were analyzed from 107 adult patients with newly diagnosed type 1 diabetes, 21 children with persistent islet autoantibodies and a family history of type 1 diabetes, and 1 238 age and gender matched control subjects, all individuals without any signs of acute infection. Adult patients with newly diagnosed type 1 diabetes had significantly lower total WBC (p<1×10 − 6), neutrophil (p<1×10 − 6), basophil (p<1×10 − 6), monocyte (p=4×10 − 6) and lymphocyte (p<1×10 − 6) counts compared to control subjects. Erythrocyte, eosinophil and platelet counts did not differ between groups. Similarly, children with persistent islet autoantibodies had decreased WBC (p=0.001), neutrophils (p=0.003), and lymphocytes (p=0.006) in comparison to control children. Our findings demonstrate a perturbation of leukocyte homeostasis at and prior to onset of type 1 diabetes suggesting a general involvement of the innate immune system in the pathogenesis of type 1 diabetes.
C Winkler, J Krumsiek, J Lempainen, P Achenbach, H Grallert, E Giannopoulou, M Bunk, F J Theis, E Bonifacio, and A-G Ziegler
Springer Science and Business Media LLC
Assimina Galli-Tsinopoulou, Ioannis Kyrgios, Ioanna Maggana, Eleni Z. Giannopoulou, Eleni P. Kotanidou, Charilaos Stylianou, Emmanouil Papadakis, Ioannis Korantzis, and George Varlamis
Springer Science and Business Media LLC
Assimina Galli-Tsinopoulou, Ioannis Kyrgios, Eleni Z. Giannopoulou, Styliani Gourgoulia, Ioanna Maggana, Elina Katechaki, Dimitrios Chatzidimitriou, and Athanasios E. Evangeliou
SAGE Publications
Acquired toxoplasmosis, although relatively common in children, is usually asymptomatic but can also be clinically manifested by a benign and self-limited infectious mononucleosis-like syndrome. Neurological complications are very rare in immunocompetent children. The authors report a 5-year-old boy who presented with cervical lymphadenopathy because of acquired toxoplasmosis accompanied with unilateral facial nerve paralysis. Toxoplasma gondii DNA detection in blood by polymerase chain reaction, as well as elevated specific immunoglobulin M antibodies against it, established the diagnosis. Characteristic brain lesions on magnetic resonance imaging were absent and ophthalmologic examination revealed no inflammatory lesions in the retina and choroid. Treatment with pyrimethamine, sulfadiazine, and folic acid resulted in a complete recovery after 2 months of therapy. Although rare, acute facial nerve paralysis of unknown origin can be caused by acquired toxoplasmosis even in the immunocompetent pediatric population. Elevated titers of specific antibodies and the presence of parasite’s DNA are key findings for the correct diagnosis.