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1. Assessing external exposome by implementing an Environmental Data Management System using Open Data

Author

Sofia Tagliaferro, Sara Maio, Federico Pirona, Ilaria Stanisci, Giuseppe Sarno, Patrizia Silvi, Marianthi Kermenidou, Nafsika Papaioannou, Reena Perchard, Igor Prpic, Kinga Polanska, Joanna Jerzynska, Elisabete Ramos, Joaquim Rovira, Jordina Belmonte, Janja Snoj Snoj Tratnik, Milena Horvat, David Kocman, Zdravko Spiric, Jacqueline Zickella, Salvatore Fasola, Stefania La Grutta, Velia Malizia, Laura Montalbano, EarlyFOOD, HEALS EXHES, Sandra Baldacci, and Isabella Annesi-Maesano

Subjects
Air quality, Lifestyle, Noise, Pollen, Pesticides, Water quality, Medicine, Science
Abstract

Abstract Due to the increasing importance of exposome in environmental epidemiology, feasibility and usefulness of an Environmental Data Management System (EDMS) using Open Data was evaluated. The EDMS includes data from 10 European cities (Celje (Slovenia), Łódź (Poland), Manchester (UK), Palermo (Italy), Paris (France), Porto (Portugal), Regensburg (Germany), Reus (Spain), Rijeka (Croatia), Thessaloniki (Greece)) about external non-specific and specific exposome factors at the city or country level (2017–2020). Findings showed that the highest values of life expectancy were in Reus females (86 years) and Palermo males (81 years). UK had the highest obesity rate (28%), Croatia the highest prescribed drug consumption (62%), Greece and Portugal the highest smoking rates (37%, 42%) and daily alcohol consumption (21%), respectively. The most polluted cities were Thessaloniki for PM10 (38 µg/m3), Łódź for PM2.5 (25 µg/m3), Porto for NO2 (62 µg/m3) and Rijeka for O3 (92 µg/m3). Thessaloniki had the highest grey space (98%) and Łódź the highest cumulative amount of pollen (39,041 p/m3). The highest daily noise levels ≥ 55 dB was in Reus (81% to traffic) and Regensburg (21% to railway). In drinking water, arsenic had the highest value in Thessaloniki (6.4 µg/L), boron in Celje (24 mg/L) and lead in Paris (46.7 µg/L). Portugal and Greece showed the highest pesticide residues in food (7%). In conclusion, utilizing open-access databases enables the translation of research findings into actionable strategies for public health interventions.

Published
2024
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2. Impact of the COVID‐19 lockdown on patients and families with Dravet syndrome

Author

Isabella Brambilla, José Ángel Aibar, Anne Sophie Hallet, Irena Bibic, Elena Cardenal‐Muñoz, Igor Prpic, Francesca Darra, Nicola Specchio, and Rima Nabbout

Subjects
behavior disorders, COVID‐19, Dravet syndrome, pandemics, social isolation, telemedicine, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract We explored the impact of coronavirus virus 2019 (COVID‐19) pandemic on patients with Dravet syndrome (DS) and their family. With European patient advocacy groups (PAGs), we developed an online survey in 10 languages to question health status, behavior, personal protection, and health services before and after lockdown. Approximately 538 European PAG members received electronic invitations. Survey ran from April 14, to May 17, 2020, with 219 answers; median age 9 year 10 months. Protection against infection was highly used prior to COVID‐19, but 88% added facemask‐use according to pandemic recommendations. Only one patient was tested positive for COVID‐19. Most had stable epilepsy during lockdown, and few families (4%) needed emergency care during lockdown. However, behavior disorder worsened in over one‐third of patients, regardless of epilepsy changes. Half of appointments scheduled prior to lockdown were postponed; 12 patients (11%) had appointments fulfilled; and 39 (36%) had remote consultations. Responders welcomed remote consultations. Half of responders were unsatisfied with psychological remote support as only few (21 families) received this support. None of the five of patient in clinical trials stopped investigational treatment. Prior adoption of protective measures against general infection might have contributed to avoiding COVID‐19 infections. Protocols for the favored remote contact ought to now be prepared.

Published
2021
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3. Mowat-Wilson syndrome: growth charts

Author

Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, and Livia Garavelli

Subjects
Mowat-Wilson syndrome, ZEB2, Growth charts, Weight, Length, Height, Medicine
Abstract

Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. Results In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. Conclusions These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.

Published
2020
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4. A novel VARS2 gene variant in a patient with epileptic encephalopathy

Author

Lucija Ruzman, Ivana Kolic, Jelena Radic Nisevic, Antonija Ruzic Barsic, Ingrid Skarpa Prpic, and Igor Prpic

Subjects
encephalocardiomyopathy, epileptic encephalopathy, mitochondrial disease, vars2, Medicine
Abstract

Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. The genetically characterized mitochondrial disorders are rarely associated with epileptic encephalopathies. Case presentation: We present the clinical phenotype, biochemical analysis, and electrographic and neuro-radiological features of a 5-month-old girl with epileptic encephalopathy, microcephaly, severe psychomotor delay, hypertrophic cardiomyopathy, and abnormal MRI scan. Using whole-genome sequencing technique, compound heterozygous mutations of the VARS2 gene were revealed, with one previously unreported frameshift mutation. Conclusion: Our report extends the phenotypic spectrum of VARS2-related disorders with an initial presentation of epileptic encephalopathy and early death due to malignant arrhythmia.

Published
2019
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5. Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice

Author

Antonela Blazekovic, Kristina Gotovac Jercic, Sarah Meglaj, Vlasta Duranovic, Igor Prpic, Bernarda Lozic, Masa Malenica, Silvana Markovic, Lucija Lujic, Zeljka Petelin Gadze, Romana Gjergja Juraski, Nina Barišic, Ivo Baric, and Fran Borovecki

Subjects
epilepsy, pediatric, next-generation sequencing, gene panel, clinical decision making, Genetics, QH426-470
Abstract

Epilepsy is one of the most common neurological disorders with diverse phenotypic characteristics and high genetic heterogeneity. Epilepsy often occurs in childhood, so timely diagnosis and adequate therapy are crucial for preserving quality of life and unhindered development of a child. Next-generation-sequencing (NGS)-based tools have shown potential in increasing diagnostic yield. The primary objective of this study was to evaluate the impact of genetic testing and to investigate the diagnostic utility of targeted gene panel sequencing. This retrospective cohort study included 277 patients aged 6 months to 17 years undergoing NGS with an epilepsy panel covering 142 genes. Of 118 variants detected, 38 (32.2%) were not described in the literature. We identified 64 pathogenic or likely pathogenic variants with an overall diagnostic yield of 23.1%. We showed a significantly higher diagnostic yield in patients with developmental delay (28.9%). Furthermore, we showed that patients with variants reported as pathogenic presented with seizures at a younger age, which led to the conclusion that such children should be included in genomic diagnostic procedures as soon as possible to achieve a correct diagnosis in a timely manner, potentially leading to better treatment and avoidance of unnecessary procedures. Describing and discovering the genetic background of the disease not only leads to a better understanding of the mechanisms of the disorder but also opens the possibility of more precise and individualized treatment based on stratified medicine.

Published
2022
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6. GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)

Author

Ivana Kolic, Jelena Radic Nisevic, Inge Vlasic Cicvaric, Ivona Butorac Ahel, Kristina Lah Tomulic, Silvije Segulja, Kristina Baraba Dekanic, Senada Serifi, Aleksandar Ovuka, and Igor Prpic

Subjects
early diagnosis, genotype, ketogenic diet, myoclonic epilepsy, phenotype, Genetics, QH426-470
Abstract

Glucose transporter type 1 (GLUT1) is the most important energy carrier of the brain across the blood–brain barrier, and a genetic defect of GLUT1 is known as GLUT1 deficiency syndrome (GLUT1DS). It is characterized by early infantile seizures, developmental delay, microcephaly, ataxia, and various paroxysmal neurological phenomena. In most cases, GLUT1DS is caused by heterozygous single-nucleotide variants (SNVs) in the SLC2A1 gene that provoke complete or severe impairment of the functionality and/or expression of GLUT1 in the brain. Despite the rarity of these diseases, GLUT1DS is of high clinical interest since a very effective therapy, the ketogenic diet, can improve or reverse symptoms, especially if it is started as early as possible. We present a clinical phenotype, biochemical analysis, electroencephalographic and neuropsychological features of an 11-month-old boy with myoclonic seizures, hypogammaglobulinemia, and mildly impaired gross motor development. Using sequence analysis and deletion/duplication testing, deletion of an entire coding sequence in the SLC2A1 gene was detected. Early introduction of a modified Atkins diet maintained a seizure-free period without antiseizure medications and normal cognitive development in the follow-up period. Our report summarizes the clinical features of GLUT1 syndromes and discusses the importance of early identification and molecular confirmation of GLUT1DS as a treatable metabolic disorder.

Published
2021
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7. Izvanbolničko liječenje motoričkih epileptičkih napadaja u djece

Author

Igor Prpić, Arijan Verbić, Ivana Kolić, and Jelena Radić Nišević

Subjects
DJECA, EPILEPSIJA, EPILEPTIČKI NAPADAJ, EPILEPTIČKI STATUS, IZVANBOLNIČKO LIJEČENJE, Medicine (General), R5-920
Abstract

Rano suzbijanje, prekidanje epileptičkih napadaja središnji je stup u strategiji njihova liječenja. Većina epileptičkih napadaja događa se izvan medicinske ustanove, najčešće u kućnom okruženju. Stoga smo izradili i predložili ovaj algoritam zbrinjavanja motoričkih/konvulzivnih epileptičkih napadaja u izvanbolničkom okruženju, prvenstveno s ciljem pružanja uniformne informacije i edukacije roditelja/skrbnika te za olakšavanje snalaženja liječnicima primarne zdravstvene zaštite i timovima hitne medicinske pomoći. Za potrebe pisanja ovog rada analizirali smo i sintetizirali postojeće smjernice u cilju preporuke jednostavnog, razumljivog i racionalnog terapijskog algoritma koji savjetujemo i primjenjujemo kao službeni algoritam preporuka naše ustanove. U njegovoj izradi usmjerili smo se na svjetske i nacionalne preporučene algoritme kao i dostupne studije koje su, koliko je to moguće, temeljene na dokazima. Prema našim saznanjima ovo je prvi pisani nacionalni algoritam takve vrste te do sada nisu postajale pisane smjernice/upute za liječenje epileptičkih napadaja, produljenih epileptičkih napadaja i epileptičkog statusa u izvanbolničkom okruženju uzimajući u obzir dostupnost, racionalnost i primjenjivost pojedinih lijekova u izvanbolničkim uvjetima, uvažavajući kliničku praksu u Republici Hrvatskoj. Sukladno navedenom, primjena benzodiazepina (BZD), vremenski jasno definirana, smatra se prvom linijom liječenja epileptičkog napadaja. Izvanbolnička primjena BZD-a, prvenstveno midazolama za orkomukuznu primjenu ili diazepama za rektalnu primjenu, povezana je s kraćim trajanjem generaliziranih konvulzivnih napadaja, smanjenjem vjerojatnosti ponavljajućih napadaja i smanjenjem broja posjeta hitnoj pomoći. Ukoliko napadaj potraje >3 minuta, svakako je potrebno žurno primijeniti jedan od BZD-a, pod pretpostavkom da ga se posjeduje (midazolam oromukozno – prednost! ili diazepam rektalno), te isto ponoviti u slučaju daljnjeg trajanja napadaja duljeg od pet minuta te pozvati/alarmirati sustav hitne medicinske pomoći. Uz provođenje mjera održavanja vitalnih funkcija potrebno je inzistirati na intravaskularnom pristupu za ponovljenu primjenu BZD-a, no doza BZD-a može se ponoviti intramuskularno. U rijetkim slučajevima može se primijeniti fenobarbiton intramuskularno, kao i levetiracetam intravenozno, a u slučaju izostanka njihova učinka započeti s primjenom midazolama u trajnoj infuziji. Dostupnost primjerenih oblika BZD-a, sukladno smjernicama, u izvanbolničkom okruženju kao i njihova pravilna uporaba – pravodobna primjena i odgovarajuće doziranje početkom napadaja – dva su ključna koraka prema poboljšanju cjelokupne zdravstvene skrbi u djece s visokim rizikom za pojavu epileptičkih napadaja i djece s epilepsijom. Navedeno ujedno predstavlja i pravovremeno suzbijanje produljenih epileptičkih napadaja i prevenciju epileptičkog statusa.

Published
2023
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8. Nove smjernice za dijagnostiku i terapiju febrilnih konvulzija u Hrvatskoj

Author

Jelena Radić Nišević, Ivana Kolić, and Igor Prpić

Subjects
FEBRILNE KONVULZIJE, SMJERNICE, HRVATSKA, Medicine (General), R5-920
Abstract

Febrilne konvulzije najčešći su konvulzivni poremećaj u djetinjstvu, zbog čega bi liječnici trebali biti upoznati s pravilnom procjenom i liječenjem ovoga uobičajenog stanja. Definira se kao bilo koji napadaj popraćen vrućicom, bez infekcije središnjega živčanog sustava, koji se javlja kod djece između šest mjeseci i pet godina. U upotrebi je pet kriterija prema kojima se klasificiraju kao jednostavne ili složene febrilne konvulzije. Ova klasifikacija nudi drugačije smjernice za kliničku praksu, poglavito odluku o provođenju lumbalne punkcije kako bi se isključila intrakranijalna infekcija. Hrvatsko društvo za dječju neurologiju izradilo je 2012. godine prve smjernice za racionalnu dijagnostiku i terapiju febrilnih konvulzija koje su trebale biti izvedive u svim bolničkim ustanovama u Republici Hrvatskoj. Iako su smjernice bile od velike pomoći mnogim kliničarima, dobivanjem novih medicinskih dokaza i razumijevanjem kliničkih entiteta koju se prezentiraju febrilnim konvulzijama, a variraju od samolimitirajućeg poremećaja bez dugoročnih posljedica preko samoograničavajućih i medikamentima kontroliranih entiteta pa sve do teških epileptičkih encefalopatija, nove smjernice pridonose postavljanju dijagnoze u hitnoj ambulanti, uključuju preporuke o hospitalizaciji, primjeni elektroencefalografije, neuroslikovnih pretraga, profilaksi diazepamom i antipireticima. Iako nove smjernice sadrže nove kliničke preporuke, ostavljaju neka neriješena pitanja na koja buduća klinička istraživanja trebaju ponuditi odgovore.

Published
2023
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11. Guidelines for pharmacological treatment of epilepsy

Author

Silvio Bašić, Željka Petelin Gadže, Igor Prpić, Zdravka Poljaković, Maša Malenica, Romana Gjergja Juraški, Ivana Marković, Ivana Šušak Sporiš, and Jelena Šarić Jurić

Subjects
epilepsy – drug therapy, anticonvulsants – administration and dosage, pharmacology, therapeutic use, drug therapy, combination, epilepsy, generalized – drug therapy, epilepsies, Medicine (General), R5-920
Abstract

Epilepsy is the only chronic neurological disease that can be fully controlled by drugs or introduced into permanent remission. Nonetheless, pharmacological treatment of epilepsy is often accompanied by a range of diagnostic and therapeutic challenges. Due to a wide variety of available antiepileptics, the selection of the first antiepileptic, as well as the combination of polytherapy, is extremely large. The choice of the ideal antiepileptic is individual and depends on a variety of factors based on the pharmacological properties of the drug and the disctinctiveness of every patient (type of seizure, age,sex, profession, comorbidity, co medication, etc.) with specific regulatory limitations (availability,price, indications of regulatory bodies). The basics of rational pharmacotherapy include slow titration of antiepileptics in monotherapy to satisfactory effect, slow drug replacement in the event of failure of the first antiepileptic, combination of two antiepileptics of different mechanism of action or selection of synergistic combinations if dual therapy is necessary, avoiding three or multiple polyterapies whenever possible, and slow reduction of antiepileptic drug after achieving a long-lasting remission.Current ILAE guidelines for epilepsy treatment imply basic and comprehensive recommendations that are acceptable worldwide, including countries with the lowest economic standard. Therefore, these guidelines do not reflect the ideal treatment options, especially in developed countries, and are actually the basis for making national guidelines. The Croatian guidelines for pharmacological treatment of epilepsy are the product of the co-operation of all relevant professional societies and reference centers in the Republic of Croatia, headed by the Croatian League Against Epilepsy and the Croatian Neurological Society. These guidelines reflect the current socioeconomic specificities in our country,the latest knowledge of pharmacological profiles, and efficacy of certain antiepileptics as well as expert opinions.

Published
2021
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12. Corticosteroids in the management of pediatric epilepsies

Author

Igor Prpić, Ines Blažeković, Jelena Radić Nišević, and Ivana Kolić

Subjects
Epilepsy, pharmacoresistant, Corticosteroids, Guidelines, Medicine
Abstract

Epilepsy is one of the most common chronic diseases in children, and cannot be controlled with conventional antiepileptic drugs in 30% of cases. Therefore, in these cases, alternative approach such as corticosteroid therapy (CT) is used. The aim of this study was to analyze different types of CT used to treat drug-resistant childhood epilepsies, treated at Rijeka University Hospital Centre during a 5-year period (2016-2020). This retrospective study included 32 patients. The following parameters were analyzed: number of patients with a particular diagnosis, average age (in months) at the onset of epilepsy, average epilepsy duration (in months) prior to CT, average number of antiepileptic drugs used prior to CT, presence of changes on magnetic resonance imaging (MRI), presence of comorbidities, and types of CT. The average age at the onset of epilepsy was 14 months and average epilepsy duration prior to CT was 16 months. On average, 5 antiepileptic drugs were used prior to CT. MRI changes were present in 53.13% and comorbidities in 81.25% of study patients. Prednisone therapy was used in 28.13%, combined therapy with prednisone and methylprednisolone in 65.63%, and methylprednisolone in 6.25% of patients. Study results revealed the use of CT for particular diagnosis to differ among the centers, as well as within the same center, so it is important to highlight the importance of reaching universal guidelines for CT therapy of childhood epilepsies.

Published
2021
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13. Molecular analysis in diagnostic procedure of hearing impairment in newborns

Author

Sanja, Zaputovic, Tea, Stimac, Igor, Prpic, Vesna, Mahulja-Stamenkovic, Igor, Medica, and Borut, Peterlin

Subjects
Croatia, DNA Mutational Analysis, Infant, Newborn, Genes, Recessive, Polymerase Chain Reaction, Connexins, Connexin 26, Neonatal Screening, Risk Factors, Mutation, Humans, Genetic Testing, Hearing Disorders, Alleles
Abstract

To determine the proportion of newborns diagnosed with hearing impairment through the hearing impairment screening program in newborns, and the frequency of 35delG/GJB2 mutation as a cause of hearing impairment. The results of the study imply the integration of the mutation analysis in the neonatal screening program.Evoked otoacustic emission (E-OAE) screening program was performed among 6019 newborns at the Department of Obstetrics and Gynaecology, Rijeka University Hospital Center, between October 2002 and December 2004. Newborns diagnosed with hearing impairment were re-examined after three weeks and if abnormal responses persisted, the diagnosis was evaluated by auditory brainstem evoked response (ABER) testing. Children with confirmed diagnosis were examined by allele-specific polymerase chain reaction to identify the presence of 35delG/GJB2 mutation.After the first and second stage of screening, 86 newborns were suspect of having hearing impairment. ABER confirmed the diagnosis of hearing impairment in 14 children. Molecular analysis revealed 35delG/GJB2 mutation in 2 of 8 children analyzed. The mutation was homozygous in one, and heterozygous in the other child.Neonatal hearing impairment screening is useful for early diagnosis of hearing impairment. It should be complemented with the 35delG/GJB2 mutation analysis, because the identification of the mutation and the etiologic diagnosis might improve the medical treatment and genetic counselling of patients and families with hearing impairment.

Published
2005

14. Poster

Author

Olivera Aleksic, Milica Pejovic-Milovancevic, Smiljka Popovic-Deusic, Biljana Pirgic, Ivana Sojic, Christoph Correll, Umesh Parikh, Vladimir Olshanskiy, Bhrigu Chopra, John M. Kane, Anil K. Malhotra, Sonja Sieslack, Gottfried Maria Barth, Gunther Klosinski, Sheila Sadigorsky, Sefi Kronenberg, Amos Frisch, Nicola Williams, Bruce Tonge, Neville King, Glenn Melvin, Amanda Dudley, Michael Gordon, Ester Klimkeit, Simon Hatch, John Breddy, Heleen DeCory, Sara Cameron, Mary Solanto, Maria Serra-Pinheiro, Isabella Sousa, Paulo Mattos, Fernanda Gomes, Giuseppe Pastura, Desna Milinkovic, Oliver Bilke, Sibille Kühnel, Bernhard Winterfeld, John Campo, James Perel, David Axelson, Jeff Bridge, Boris Birmaher, Neal Ryan, David Brent, Edmund J. S. Sonuga-Barke, Dorothea Y. Sanchez, Mani Pavuluri, David B. Henry, Julie A. Carbray, Gwendolyn Sampson, Michael W. Naylor, Philip G. Janicak, Stefan Gebhardt, Frank Theisen, Michael Haberhausen, Monika Heinzel-Gutenbrunner, Peter Wehmeier, Jürgen-Christian Krieg, Wolfgang Kühnau, Jörg Schmidtke, Helmut Remschmidt, Johannes Hebebrand, Hans-Willi Clement, Christian Fleischhaker, Klaus Hennighausen, Eberhard Schulz, Reiner Frank, Belda Karamete, Gunnel Löndahl, Peik Gustafsson, Anneli Parnegdrd, Giancarlo Rigon, Simona Chiodo, Alessandra Mancaruso, Daniele Giovanni Poggioli, Stefano Costa, Pedro Pires, Isabel Brito, Isabel Carvalho, Sara Almeida, Paula Zaragoza, Yury Shevchenko, Vasilisa Korneeva, Miodrag Stankovic, Aneta Lakic, Vesna Milovanovic, Sandra Stankovic, Bernard Hobrücker, Filip Caby, Jean Chambry, Stéphane Laudrin, Catherine Graindorge, Arata Oiji, Yukiko Morioka, Ami Murata, Madoka Sato, Yume Hashizume, Katarina Müller, Willigis Werner, Matthias Martin, Eva Mattejat, Myriam Olivieri, Annalisa Simoncini, Sonia Marchegiani, Marco Lazzorotto Muratori, Gabriele Borsetti, Shewikar Farrag, Riccardo Coltrinari, Doa Habib, Daniel Fung, Nelson Lee, Susanne Ohmann, C. Popow, M. Lanzenberger, H. Herzog, S. Schuch, S. Miksch, Fatemeh Abdollahy, S. Khani, B. Shabankhani, Joao Guerra, Claudia Fontes, Vania Martins, Ana Teles, Corina Rodrigues, Zulmira Correia, Gereon Becht-Jördens, Catherine McElearney, Michael Fitzgerald Henry Marsh, Alexander Naumann, Dirk Holst, Annette Engbarth, Tiberiu Mircea, Ashima Nehra, Savita Malhotra, Subho Chakrabarti, Shashi Kiran, Srinath Shoba, Allan Hvolby, Jan Ib Jorgensen, Marco Medeiros, Ariete Correia, Maria Gabilondo, Pedro Caldeira da Silva, Augusto Carreira, Jae-Won Yang, Yeoung-Rang Kim, Sung-Do David Hong, Sang-Sin Lee, Seong-Hu Lim, Jeoung-Hwan Park, Vera Trbic, Danica Boskovic, Jan Pauschardt, Fritz Mattejat, Kurt Quaschner, Erika Lischka, Mechthild Bauer, Franka Petzke, Britta Wehrmann, Sigita Lesinskiene, Laura Paskauskaite, Luisa Garcia-Giralda Bueno, Juana Montiel Gonzales, Javier Gallego Cumbres, Francisco Gutierrez Asensio, Susanne Denoix, Franz Kimmig, Marc Weinhardt, Peter Greven, Stefan Buchmann, Nurgül Atas, Ute Jonkanski, Bodo Pisarsky, Silvia Treuter, Josep Cornellà, Alex Llusent, Lara Condesso, António Trigueiros, Klaus Schütz, Michael Tarren-Sweeney, Philip Hazell, Luigi Mazzone, Diego Mugno, Liliana Ruta, Valentina Genitori D’Arrigo, Perrotta Concetta Simona, Teresa Mattina, Domenico Mazzone, Ralf Nordbeck, Wolfgang Gierow, Frank Haessler, Johannes Buchmann, Lucia Bliznakova, Yvonne Grimmer, H. J. Roth, Christine Jennen-Steinmetz, Martin H. Schmidt, Katja Becker, Andrea G. Ludolph, Alexander Storch, Tobias Boeckers, Joachim Kirsch, Jörg M. Fegert, Oksana Drevitska, Carlo Cianchetti, Simona Corona, Maria Foscoliano, Daniela Contu, Giuseppina Sannio Fancello, Anna Costa, Mara Roello, Angela Romano, Anna Fabrizi, Andrea Pelliccia, Maria Matricardi, Nickola Matthias, Timo Lesnick, Matthias Gass, Linyan Su, Jishui Zhang, Dazing Wu, Xuerong Luo, Ignazio Ardizzone, Paola D’Oto, Francesca Priskich, Elvira Rigillo, Nadia Tomassetti, Francesca Vagnoni, Beate Sabisch, Anja Hahne, Lisa Glass, Angela D. Friederici, Waldemar von Suchodoletz, Carlo Di Brina, Andrea Pagnacco, Flavia Capozzi, Roberta Penge, Fabio Bocci, Laura Cantonetti, Alessandra De Carlo, Barbara Scanferla, Teresa Sebastiani, Cristina Vagnoni, Xueping Gao, Yasong Du, Fabio Lorenzetti, Michael von Aster, Martin Schweiter, Karin Kucian, Thomas Loenneker, Thomas Dietrich, Ernst Martin-Fiori, Hesham Abuhegaz, Hashem Bahary, Dae-Hwan Lee, Bong-Seog Kim, Seong-Ill Jeon, Sun-Lu Chung, Maria Conceicao Taborda da Simoes, Maria Luz Vale da Dias, Ulf Engqvist, Per-Anders Rydelius, Maria Dores das Formosinho, Ana Monica Pinto, Luiza Nobre Lima, Tobias Edbom, Jan-Olov Larsson, Paul Lichtenstein, Bernardo Perez, Macarena Marin, Su-Jin Yang, Helen Lee, Kyung-Sun Noh, Ferdinand Keller, Lutz Goldbeck, Ghizlane Benjelloun, Dirk Dhossche, Sara Stanfill, Akiko Takahara, Minemitsu Kusu, Sumiko Watanabe, Tatsuya Matsui, Kengo Ikeda, Hiroe Matsuda, Hiie Allik, Hans Smedje, Sadaaki Shirataki, Bonko Murakami, Rawheya Ahmad Mohamed, Fiona Dunbar, Sarah Shea, Mariko Atsumi, Hideo Matsumoto, Akitoshi Ooya, Seiji Koishi, Yutaka Aoki, Youichi Enseki, Yuri Nakamura, Kostas Francis, Vassilis Kazaridis, Panagiota Kirillidou, Sofia Koukouvinou, Sobharani Paliwal, Parkview Clinic, William Whitehouse, Margo Edwards, Ayliffe Edwards, Sunita Pandit, Judith Powell, Mehdi Tehrani-Doost, Mitra Sepasi, Javad Alaghband-Rad, Reza Rad Goodarzi, Masaki Kodaira, Andrea Viertler, Katja Elpel, Olaf Reis, Melda Ayse Akçakn, Gulsen Erden, Efser Kerimoglu, Eric Lemonnier, Toshio Munesue, Kouhei Mutoh, Kazunori Shimoda, Hideo Nakatani, Yoshifumi Koshino, Isabell Germerott, Eman Galal Sadek, A. G. Litvinov, Froylan Calderón-Castaneda, Alberto Enrique Nuno-Licona, Efren Alatorre-Miguel, Kirstin Goth, Klaus Schmeck, Sibylle Winter, Anja Wiegard, Günter Hinrichs, Denis Köhler, Martin Kammerer, Diana Adams, Brida von Castelberg, Alyx Taylor, Maj-Britt Posserud, Kjell Morten Stormark, Astri J. Lundervold, Christopher Gillberg, Maaike Steijnen, Sophie Verhoeven, Ivana Francula, Igor Prpic, Rena Volga, Stefania Di Biasi, Francesca Piperno, Filomena Puleo, Sara Cerracchio, Roberta Giacchè, Zoé Rein, Nathalie Godart, Fabienne Perdereau, Florence Curt, Philippe Jeammet, Jacques Fermanian, Emine Ozgur Bayman, Yesim Taneli, Neslim Guvendeger, Bulent Ediz, Suna Taneli, Ismet Kan, Angela Plaß, Claus Barkmann, B. Mack, K. Mittenzwei, Peter Riedesser, Michael Schulte-Markwort, Veit Roessner, Andreas Becker, Nicola Hagenberg, Matthias Berking, Tobias Banaschewski, Aribert Rothenberger, Nathalie Coulon, Daniela Tardiola, Stefano Balsamo, Nadia Capriotti, Tanveer Sandhu, Tuula Tamminen, Nina Iovchuk, Ivona Milacic, Oliver Vidojevic, Ayse Kilincaslan, Nahit Motavalli Mukaddes, Gokce Sozen, Ayla Umut, Kenji Yamamoto, Shinko Koishi, Noriko Natsume, Kosuke Yamazaki, Eiji Nanba, Fabienne Naber, Emma van Daalen, Jan Buitelaar, Marinus van IJzendoorn, Sophie Willemsen-Swinkels, Marian J. BakermansKranenburg, Herman van Engeland, Maretha de Jonge, Chantal Kemner, Andrea Caby, Stefan Bendt, Vera Bashina, Maria Krasnoperova, Jan Croonenberghs, Sonja Sliwinski, Armand Christophe, Dirk Deboutte, Michael Maes, Alessia Tosco, Emanuela Giorgi, Monica Lazzarini, M. Liliana Iorio, Mercedes Becciu, Bung-Nyun Kim, Jeong In-Hyoung, Dong-Hyun Ahn, Boong-Nyun Kim, Yun-O Shin, Kang-E Hong, Michal Hrdlicka, Jiri Neuwirth, Vladimir Komarek, Marketa Havlovicova, Zdenek Sedlacek, Marek Blatny, Tomas Urbanek, Masataka Ohta, Yukiko Kano, Yoko Nagai, Anne Wintgens, Jean-Yves Hayez, Seoung-Hu Lim, Ji-Hye Ha, Hee-Jung Byun, Ji-Hae Kim, Rebecca Lee, Eric Fombonne, Eric Taylor, Füsun Çuhadaroôlu Çetin, Deborah James, Maria Lawlor, Nick Sofroniou, Kiyoko Kamibeppu, Lori Sato, Yasutaka Hoshi, Jezdimir Zdravkovic, Petar Kostic, Khalid Murafi, Michael Ries, Rainer Georg Siefen, Martin Jelinek, Helena Klimusova, Jaroslava Blizkovska, C. Burke, B. Doody, Carole Müller Nix, Ayala Nicole, Markus Wilken, Marguerite Dunitz-Scheer, Alexandra Krasnovsky, Anastasia Dressler, Valentina Perelli, Francesca Tinelli, Valentina Rafanelli, Stefania Bargagna, Gerhard Libal, Paul Plener, Jórg M. Fegert, Fumiko Enokido, Masako Higuchi, Istuki Jibiki, Martina Tomori, Hee-Jeong Yoo, Su-Yeon Kim, In-Hee Cho, Sook-Kyeong Yune, In-Kyoon Lyoo, Ji-Hyun Ha, Barbara Haas, Lyudmila Danilova, Kanita Dervic, Janos Csorba, Sandor Rozsa, Marjorie Kleinman, Laszlo Tringer, Max Friedrich, Madelyn Gould, Tuerkan Akkaya-Kalayci, Gerhard Lenz, Elisa Lapponi, Maria Carla Filipponi, Felicia Lauria, Carla Sogos, Akihide Kitamura, Bjoern Albrecht, Xianghui Zhang, Xuerong Li, Vesna Hercigonja-Novkovim, Dubravka Kocijan-Hercigonja, Stephen Ralston, Maria Lorenzo, Asmaa Amin Abdel Aziz, Joseph Biederman, Thomas Spencer, Rodney Moore, Haitao Gao, Josep Cornelld, Natasa Potocnik Dajcman, Rok Holnthaner, Guangrong Xie, Ulrike Sühlfleisch-Thurau, Frank Häßler, Margaret Tiffin-Richards, Michael Richards, Marcus Hasselhorn, Alper Bayrak, R. Rodrigues Pereira, W. Brussel, L. Vlasveld, H. G. Tuynman-Qua, M. J. Lorenzo, Dong-Ho Song, Eun-Hye Ha, Eun-Sik Lee, Young-Min Yu, Hans-Theo Weiler, Heike Hellrung, Caro Grünling, Stephan Overmeyer, Markus Ligges, Bernhard Blanz, Armin Claus, Susanne Walitza, Peter Scheuerpflug, Christoph Wewetzer, Manfred Gerlach, Andreas Warnke, Mieko Aoki, Shozo Aoki, Masato Takii, Yasuko Uchigata, Takehiro Nozaki, Keisuke Kawai, Shu Takakura, Chikako Koreeda, Chiharu Kubo, Hitoshi Saino, Kenzo Denda, Kouichi Ito, Satoshi Asakura, Yukiya Sasaki, Fumi Sasaki, Seishiro Inoue, Sonja Werneck-Rohrer, Ernst Eveline, Heidrun Eichberger, Carolin Prause, Bibiana Schuch, Andreas Lamerz, Jutta Kuepper-Nybelen, Christine Wehle, Gabriele Trost-Brinkhues, Hermann Brenner, Beate Herpertz-Dahlmann, Beata Pawlowska, Maria Chuchra, Marta Kaczynska-Haladyj, Ulrike Margarete Elisabeth Schulze, Simone Schuler, Dieter Schlamp, Peter Schneider, Christian Reiners, Chihiro Morita, Anatoly Severny, Victor Brutman, Irina Kireeva, Marc Schmid, Antje Zander, Marta Kaczynska-Haladyi, Nicole Bruning, Gabriele TrostBrinkhues, Christian Popow, Andreas Karwautz, Sylvia Eimecke, Kristian Holtkamp, Anna Capasso, Masaki Seki, Yu Wakabayashi, Ken Takaoka, Marc G. Schmid, Claudia Zerahn-Hartung, Kayo Morioka, Jan Nedoschill, Peter Leiberich, Thomas Loew, Jae-Suk Jung, Young-Sik Lee, Sun-Ju Chung, Tae-Won Park, Alba Sunshine Bettoschi, Pasquale Carboni, Soo-Churl Cho, Jeong-Mee Ahn, Kang-E. Hong, Jan Elena Kassubek, Sylvia Quiner, Michaela Seyering, Max H. Friedrich, Ana Radojkovic, Ana Velimirovic, Sherese Ali, Kevin Parker, Zarko Martinovic, Nadezda Krstic, Nevenka Buder, Veronika Ispanovic, Ewa Mojs, Maria Danuta Glowacka, Junko Hayashi, Syunichi Funakosi, Takamichi Kamiyama, Takashi Ueno, Tomohiro Ishii, Yutaka Hayashi, Hiroo Matsuoka, William Gardner, Amanda Lucas, David Kolko, Kelly Kelleher, Maria Claustre Jané Ballabriga, Sergi Ballespi Sola, Montse Dorado, Natalia Diaz Reganon, Maite Gonzalez Alonso, Maria Dolores Riba, Edelmira Domenech Llaberia, Kayano Ishii, Kayo Inoko, Aya Nishizono-Maher, Makiko Osawa, Mari Kasahara, Kazuhiko Saitou, Satomi Murase, Risa Oga, Takashi Murakami, Shuji Honjo, Hitoshi Kaneko, Shiori Arai, Sabine Völkl-Kernstock, Sonja Bauch-Prater, Martha Feucht, Paula Vilariça, Isadora Pereira, Olivia Pastor, Susana Farinha, Pedro Caldeira, Maria Antónia Silva, Caterina Gawrilow, Peter M. Gollwitzer, Keun-Ah Cheon, Young-Hoon Ryu, Jae-won Kim, Alceu Gomes Correia Filho, Luis Augusto Rohde, Tatiana Silva, Rafael Bodanese, Michael Aman, W. Boudewijn Gunning, Manfred Laucht, Mahha El-Faddagh, Martin Schmidt, Jakob Nützel, Juliane Ball, Cornelia Elben, Halina Kadziela-Olech, Taewon Park, Myung Ho Im, Daehee Kang, Hee Jeong Yoo, David Michelson, Shuyu Zhang, Dustin Ruff, Peter Feldman, Niels Bilenberg, Jurgen Jensen, Azar Moradi, Vahed Alaey, Christopher Kratochvil, Timothy Wilens, Laurence Greenhill, Douglas Gelowitz, Leon Patrice Celestin, Smadar Celestin-Westreich, Somnath Banerjee, M. Chandola, S. Venables, Hideki Negoro, Junzo Lida, Hidemi Iwasaka, Masanori Kyo, Tatsushi Nagano, Kanae Kishino, Toshihumi Kishimoto, Bong-Suk Kim, Jun-Won Hwang, Masanori Kyoh, Lida Junzo, Negoro Hideki, Nagano Tatsushi, Kishino Kanae, Iwasaka Hidemi, Kishimoto Toshifumi, Rael Strous, Simion Kertzman, Z. Ben Nachum, Moshe Kotler, Roni Hegesh, David Coghill, Quentin Spender, Joanne Barton, Chris Hollis, Cammy Yuen, Irina Cleemput, Lieven Annemens, Susanne Eschmann, Karl Christoph Käppler, Maycoln M. L. Teodoro, Eva Stieger, Anouk Mugier, Stephanie Stüttler, Cord Alexander Heise, Henrik Uebel, Charlotte Hanisch, Kerstin Konrad, Ralph Radach, Dagmar Horn, Noa Tsujii, Akira Okada, Noriko Kuriki, Junko Matsuo, Kazushi Hanada, Takeshi Kusube, Kazuhiko Hitomi, Marcelo Schmitz, Daniel Denardin, Tatiana da Silva, Thiago Pianca, Tatiana Roman, Mara Hutz, Asma Bouden, Ines Dengezli, Mohamed Halayem, Oscar Herreros, Francisco Sanchez, Belen Rubio, Ramon Gracia, Simone Henrike Weber, Alex Wolters, Albert J. Allen, Roger Kurlan, Donald Gilbert, David Dunn, F. Randy Sallee, Christine Thomason, Virginia Sutton, Denai Milton, Dorthe Petersen, Solvejg Kristensen, Jörg Kinkelbur, Juliane Hellwig, Martin Hellwig, Eckert Rüther, Olayinka Omigbodun, O. Esan, K. Bakare, B. O. Yusufi, F. Nuhu, A. Adesokan, Marie Kopecky-Wenzel, Mark-Peter Steenhuis, Ruud Minderaa, Marie-Louise Körlof, Margit Wängby, Lars R. Bergman, Suwei Yu, Petteri Multimäki, Kai Parkkola, Andre Sourander, Georgios Nikolakaros, Hans Helenius, Carina Freitas, Assunçâo Rocha, Lídia Pocinho, Shinichi Arai, Hironobu Ichikawa, Ikuko Hirosawa, Maria Elena Mdrquez-Caraveo, Verónica Pérez-Barrón, Merete Juul Sorensen, Ole Mors, Per Hove Thomsen, Kai von Klitzing, Sonja Perren, Agnes von Wyl, Dieter Burgin, Han-Ik Yoo, Min-Sup Shin, Kang E. Hong, Ehsan Syed, Sobia Haqqi, Michail Semago, Sigita Girdzijauskiene, Dainius Puras, Grazina Gintiliene, Dovile Cerniauskaite, Christiane Bormann-Kischkel, Rosemarie Schmoetzer, Diana Frischholz, Martin Linder, Catharina Ganseforth, Daniela Rödder, Angela Kribs, Frank Pillekamp, Alexander von Gontard, Bernhard Roth, Tjhin Wiguna, Cristina Maria Ribeiro Marques, Teresa Goldschmidt, Teresa Cepeda, Ayse Arman, Refika Ersu, Dilsad Save, Goksin Karaman, Koray Karabekiroglu, Bulent Karadag, Meral Berkem, Lene Ruge Moller, Parathasarathy Biswas, Anil Malhotra, Nitin Gupta, Tord Ivarsson, Oeystein Litlere, Per Svalander, Yelena Yelikova, Petar Nastasic, Snezana Filipovic, Roza Panoski, Goran Lazetic, Nataliya Zvereva, Monika Strauss, A. Graf, R. Zollinger, Tanja Brückl, Michael Höfler, Lena Schwenden, Hans-Ulrich Wittchen, Roselind Lieb, Angelika Schweitzer, Jane Edwards, Monika Schlögelhofer, Paul G. Amminger, Maria Giuseppina Ledda, A. Zuddas, T. Piroddi, M. Abis, A. Mereu, Fabian Härtling, Ralf Tepest, Tanja Goncharova, David E. D. Linden, Peter Falkei, Kai Vogeley, Fritz Poustka, Miriam Spinner, Julian Dobranowski, Duncan MacCrimmon, Jim Gibson, Susan Fawcett, Margarita Criollo, Brigitte Ramsauer, Nina Janke, Danica Boskovic Djukic, Fabiola Napoli, Raffaella Valente, Valeria Neri, Mauro Ferrara, Carla D’Agostini Costa, Christian Veronesi, Sergio Melogno, Achille Gigliotti, Bruna Mazzoncini, Antonio Fonseca, Eva Maid, Erika Hohm, Claudia Mehler-Wex, J. Catharina Duvigneau, Romana T. Hartl, Dorit Ben-Shachar, Harvey Kranzier, Sanjiv Kumra, Ginny Gerbino-Rosen, David Roofeh, Courtney De Thomas, Carolyn Dombrowski, Marjorie McMeniman, Hsueh-Ling Chang, Sue-Huei Chen, Keh-Chiang Yu, Michael Kölch, Reinhild Bücheler, Christoph H. Gleiter, Stephanie P. Bohne, Frank M. Häßler, Bärbel Gierow, Julie Carbray, Sampson Gwen, Michael Naylor, Anja Taanila, Katri Hautala, Päivi Kemppainen, Arto Kotimaa, Hanna Ebeling, Irma Moilanen, Monica Biscaldi, Bettina Wagner, Ute Dürrwächter, Susanne Trauzettel-Klosinski, Jens Reinhard, Ellen Plume, Gerd Schulte-Körne, Branko Aleksic, Regula Blaser, Ulrich Preuss, Claudia Meusel, Georg Macharey, Ulrich Strehlow, Johann Haffner, Jürgen Bischof, Volker Gratzka, Peter Parzer, Franz Resch, Steffi Sachse, Beatrice Anke, Monika Adamski, Angelika Pecha, Dragana Macesic-Petrovic, Svetlana Slavnic, Chie Hatagaki, Hanna Swaab, P. Cohen-Kettenis, Roberta Di Scipio, Ester Patruno, Sylvia Reinelt-Straka, Liselotte Hoffmann, Max H. Friedrich Dragana, Macesic Petrovic, Monique Nesa, David Hay, Clare Roberts, Mairead McCoy, Harriet Salbach, Uta Klopfer, Swantje Hagen, Bürger Arne, Ulrike Lehmkuhl, Bradley Smith, Judith Sinzig, Martin Hohmann, Takayo Mukai, Pia Enebrink, Niklas Ldngström, Henrik Andershed, Louis Richer, Lise Lachance, Claude Dubé, Serge Saintonge, Matti Virkkunen, Jyrki Liesivuori, Risto Bloigu, Jari Tiihonen, Alasdair Vance, Chidambaram Prakash, Magali Reyes-Harde, Krisztina Csaba, Marielle Eerdekens, Roza Olah, Ilse Augustyns, Ulrike Hellmann, Astrid Matei, Ji Hyun Ha, In Hee Cho, Mee Gyeong Kim, Sook Kyeong Yune, In Kyoon Lyoo, Bruce Barbro, Guilherme Polanczyk, Zineb Iraqi, Nadia Kadri, Driss Moussaoui, Kamal Raddaoui, Karl Titze, Susanne Wollenweber, Verena Nell, Andreas Wiefel, Margarita Forcada Guex, Basaran Sezer, Farshid Shamsaei, Fatemeh Cheraghi, Oytun Hasturk, Mehmet Okan, Naoko Sato, Aya Sato, Eleonora Camillo, Viviana Porcari, Maria Patrizia Salatiello, Sabrina Chifari, Valentina Dell’Oglio, Militello Rosanna, Carmela Scrò, Lisette Hart-Kerkhoffs, A. Ph. van Wijk, L. M. C. Jansen, Robert Vermeiren, Theodore Doreleijers, Shi Ji Zhang, Reija Latva, Liisa Lehtonen, Raili Salmelin, Emmanouel Tsalamanios, Gerasimos Kolaitis, Elena Paliokosta, Stauroula Diareine, Sofia Anasontzi, Alkis Tsiantis, Irini Limbinaki, John Tsiantis, Leontina Dreana-Ianciu, Miriana Vrajitoriu, Laura Lebedeva, Yasemen Taner, Betul Bakkaloglu, Füsun Çuhadaroâlu Çetin, Cengiz Ozbesler, Mihriban Erturk, Sandra Sebre, Audrey Keller, Ayala Borghini, Blaise Pierrehumbert, François Ansermet, Adrian Furnham, Peter Noack, Bruce Kirkcaldy, Michaela Felber, Stefan Puig, James Swain, James Leckman, Linda Mayes, Ruth Feldman, Robert Constable, Robert Schultz, Evgeny Koren, Umaporn Trangkasombat, Michael Karle, Marina Belianchikova, Galina Scoblo, Valentin Fadeev, Lyne Jaunin, Francois Ansermet, Tatsuo Ujiie, Kenji Nomura, Yasuko Sasaki, Vaska Stancheva-Popkostadinova, Meglena Achkova, Emine Kilic, Gönül Erdogan, Rami Gaber, Areej Qasqas, Martin Aßhauer, Hubertus Adam, Lynne Jones, Linda Rachidi, Kawtar Halty, Omar Battas, Agnes Leor, Shmuel Tyano, Schaul Shreiber, Nan Hosogane, Kyoto Watanabe, Makiko Okuyama, Young-Shin Kim, Bennett Leventhal, Yun-Joo Koh, W. Thomas Boyce, Sonja Liptai, Marianne Clauß, Petra Heuer, Abdul Nasser Kaadan, Samuel Menahem, Frances Salo-Thompson, Bizhan Shabankhani, Christoph Hoeger, Seong-Shim Jeong, Jeong-Hwan Park, Eduardo Szaniecki, Lise Roll-Pettersson, Patrick Ehnis, Maria Trosse, Piedade Van Rebelo, Eva Heimdahl Mattson, Giulietta Cucchiaro, Mariadonatella Cocuzza, Giada Morales, Nataliya Bobrova, Fernando Asbahr, Renato Ramos, André Costa, Roberto Sassi, Maaike Nauta, Sonila Tomori, Valbona Alikaj, A. Como, Lisa Snider, Marjorie Garvey, Dirce Zanetta, Helio Elkis, Susan Swedo, Pinar Vural, Kai Wang, Yan Zhu, Osman Sabuncuoglu, Viktoryia Krasavina, Nina Pykhtareva, Bianca Venuti, Naohiko Tachi, Naomi Kodoi, Naoko Sakamoto, Michiko Watanabe, Motiko Goto, Frank Geller, J. Reinlein, Nikolaus Barth, F. Hahn, Anke Hinney, Monika Robatzek, Rosa Calvo, Lazaro Luisa, Lucrezia Cirigliano, Loredana Lucarelli, Uwe Ratz, Thomas Stegemann, Ulla Breuer, Susanne von Widdern, Leonie Fricke, Alexander Mitschke, Alfred Wiater, Gerd Lehmkuhl, Kyoichi Honda, Muhmmad Lafta, Secil Oktem Kurultak, S. Tomori, and E. Petrela

Published
2004

15. Trace elements and APOE polymorphisms in pregnant women and their new-borns

Author

Ajda Trdin, Janja Snoj Tratnik, Anja Stajnko, Janja Marc, Darja Mazej, Alenka Sešek Briški, Damijana Kastelec, Igor Prpić, Oleg Petrović, Zdravko Špirić, Milena Horvat, and Ingrid Falnoga

Subjects
Apolipoprotein E polymorphism, ε4 allele, Pregnancy, Selenium, Mercury, Trace elements, Environmental sciences, GE1-350
Abstract

We investigated the relationship between lipid binding glycoprotein apolipoprotein E (apoE; gene APOE) polymorphisms (ε4 allele carriers versus no carriers = ε4+/ε4−) and trace elements (TEs) (e.g., (methyl)mercury, arsenic, lead, cadmium, selenium, manganese, copper, and zinc) in mothers (N = 223) and their new-borns (N = 213) exposed to potentially toxic metal(loid)s from seafood consumption. The apoE isoform encoded by the ε4 allele is believed to have beneficial effects in early life but represents a risk factor for age-associated diseases. Under certain conditions ε4 carriers are more susceptible to oxidative stress and metal(loid) toxicity. DNA from Croatian pregnant women (N = 223, third trimester) and their new-borns (N = 176), was genotyped for APOE by TaqMan® SNP assay – rs429358 and rs7412. Seafood intake data and TE levels in maternal urine, milk, hair, peripheral venous blood, mixed cord blood, and new-borns’ urine were available from previous studies. We compared TEs between ε4+ and ε4− carriers using Mann-Whitney U tests and applied multiple linear regression models to analyse the TE’s dependence on the presence of allele ε4 (genotypes ε3/ε4, ε4/ε4) in combination with other explanatory variables. We identified 17% (n = 37) and 20% (n = 35) ε4 allele carriers in mothers and new-borns, respectively. The Mann-Whitney U test showed that mothers with the ε4 allele had significantly higher mean levels of (methyl)mercury in peripheral venous blood, cord blood, and hair; arsenic in urine and cord blood; and selenium in peripheral venous blood and plasma. However, taking confounders into account, only the maternal plasma selenium remained statistically significant in the linear regression models (ε4 carriers vs non-carriers: 62.6 vs 54.9 ng/mL, p

Published
2020
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16. Nutrient Intake during Pregnancy and Adherence to Dietary Recommendations: The Mediterranean PHIME Cohort

Author

Federica Concina, Paola Pani, Claudia Carletti, Valentina Rosolen, Alessandra Knowles, Maria Parpinel, Luca Ronfani, Marika Mariuz, Liza Vecchi Brumatti, Francesca Valent, D’Anna Little, Oleg Petrović, Igor Prpić, Zdravko Špirić, Aikaterini Sofianou-Katsoulis, Darja Mazej, Janja Snoj Tratnik, Milena Horvat, and Fabio Barbone

Subjects
prospective cohort study, pregnant women, nutrient intake, dietary reference values, food groups, PHIME, Nutrition. Foods and food supply, TX341-641
Abstract

Few studies provide a detailed description of dietary habits during pregnancy, despite the central role of nutrition for the health of the mother and offspring. This paper describes the dietary habits, energy and nutrient intake in pregnant women from four countries belonging to the Mediterranean PHIME cohort (Croatia, Greece, Italy and Slovenia) and evaluates their adherence to the European Food Safety Authority (EFSA) recommendations. A total of 1436 women were included in the present analysis. Maternal diet was assessed using a food frequency questionnaire (FFQ). The mean macro and micronutrient intakes were estimated and compared with the dietary reference values (DRVs). The percentage distribution of the 16 food groups in the total intake of each macronutrient was estimated. All women shared a similar diet during pregnancy; almost all the women in the four countries exceeded the DRV for sugars, and the total fat intake was above the DRV in most women in all the countries, as was the contribution of saturated fatty acids (SFAs) to the total energy intake. In all four countries, we observed an increased risk of micronutrient deficiency for iron, folate and vitamin D. Shared guidelines, implemented at both the national and European level, are essential to improve the maternal nutritional status during pregnancy.

Published
2021
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17. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Author

Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta, Cell biology, and Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

Subjects
0301 basic medicine, Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, Microcephaly/diagnosis, Settore MED/03 - GENETICA MEDICA, Bioinformatics, Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, Hirschsprung Disease/diagnosis, BOX 1B GENE, Abnormalities, Multiple/genetics, Genotype, Intellectual disability, Medicine and Health Sciences, Missense mutation, Mowat-Wilson syndrome, Family history, Child, Genetics (clinical), BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Intellectual Disability/diagnosis, Phenotype, ZEB2 gene. Mowat-Wilson syndrome, intellectual disability, 3. Good health, SIBLINGS, Child, Preschool, Microcephaly, Female, Adult, Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, Adolescent, 03 medical and health sciences, Genetic variation, medicine, Humans, Abnormalities, Multiple, Hirschsprung Disease, RECURRENCE, ZFHX1B MUTATIONS, Genetic Association Studies, Genetic association, Zinc Finger E-box Binding Homeobox 2, SPECTRUM, SMAD-INTERACTING PROTEIN-1, business.industry, CLINICAL-FEATURES, ZEB2 gene. Mowat-Wilson syndrome, Biology and Life Sciences, Facies, Infant, HIRSCHSPRUNG-DISEASE, medicine.disease, Zinc Finger E-box Binding Homeobox 2/genetics, DELINEATION, Genetic Association Studies/methods, 030104 developmental biology, Mutation, business, MENTAL-RETARDATION
Abstract

PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221. ispartof: Genetics in Medicine vol:20 issue:9 pages:965-975 ispartof: location:United States status: published

Published
2018

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