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  1. Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can...

    Authors: Pasquale Parisi, Severino Persechino, Maria Chiara Paolino, Francesco Nicita, Isabella Torrente, Alessandro Bozzao and Maria Pia Villa
    Citation: Italian Journal of Pediatrics 2013 39:10
  2. Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The classic form is characterized by severe...

    Authors: Francesca Santamaria, Sara De Stefano, Silvia Montella, Marco Maglione, Roberto Della Casa, Emma Acampora, Claudio Pignata, Mariacarolina Salerno and Giancarlo Parenti
    Citation: Italian Journal of Pediatrics 2013 39:9
  3. Aim of this survey is to report the most recent views about Hashimoto’s thyroiditis (HT) natural history according to the different presentations. In children presenting with either euthyroidism or subclinical...

    Authors: Filippo De Luca, Simona Santucci, Domenico Corica, Elda Pitrolo, Marika Romeo and Tommaso Aversa
    Citation: Italian Journal of Pediatrics 2013 39:8
  4. According to the Barker hypothesis, the period of pregnancy and the intrauterine environment are crucial to the tendency to develop diseases like hypertension, diabetes, coronary heart disease, metabolic disor...

    Authors: Lucetta Capra, Giovanna Tezza, Federica Mazzei and Attilio L Boner
    Citation: Italian Journal of Pediatrics 2013 39:7
  5. Vesico-ureteral reflux (VUR) is a dynamic event in which a retrograde flow of urine is present into the upper tracts. VUR may occur isolated or in association with other congenital abnormalities or as part of ...

    Authors: Elisa Brandigi, Francesco Molinaro, Anna Lavinia Bulotta, Rossella Angotti, Maria Pavone and Mario Messina
    Citation: Italian Journal of Pediatrics 2013 39:6
  6. Subclinical hypothyroidism (SH) is a condition characterized by a mild persistent thyroid failure. The main cause is represented by autoimmune thyroiditis, but mutations in genes encoding proteins involved in ...

    Authors: Manuela Cerbone, Patrizia Agretti, Giuseppina De Marco, Nicola Improda, Claudio Pignata, Francesca Santamaria, Massimo Tonacchera and Mariacarolina Salerno
    Citation: Italian Journal of Pediatrics 2013 39:5
  7. Children who were <1000 g (ELBW extremely low birth weight) at birth more frequently present with wheezing which is the most common reason that pediatric consultation is sought. Therefore asthma is diagnosed v...

    Authors: Przemko Kwinta, Grzegorz Lis, Malgorzata Klimek, Andrzej Grudzien, Tomasz Tomasik, Karolina Poplawska and Jacek Jozef Pietrzyk
    Citation: Italian Journal of Pediatrics 2013 39:4
  8. Hemi-hydranencephaly is a very rare condition characterized by complete or almost near-complete unilateral absence of the cortical cortex, which is filled by a sac of cerebrospinal fluid. Prenatal vascular dis...

    Authors: Piero Pavone, Francesco Nigro, Raffaele Falsaperla, Filippo Greco, Martino Ruggieri, Renata Rizzo, Andrea D Praticò and Lorenzo Pavone
    Citation: Italian Journal of Pediatrics 2013 39:3
  9. Recently, a complete characterization and detailed evaluation of the glycosaminoglycans of human milk were performed. The total glycosaminoglycans content in milk from healthy mothers having delivered term or ...

    Authors: Giovanni Valentino Coppa, Orazio Gabrielli, Enrico Bertino, Lucia Zampini, Tiziana Galeazzi, Lucia Padella, Lucia Santoro, Rita Lucia Marchesiello, Fabio Galeotti, Francesca Maccari and Nicola Volpi
    Citation: Italian Journal of Pediatrics 2013 39:2
  10. Respiratory Syncytial Virus (RSV) is the most important cause of severe respiratory infections in infants with seasonal epidemics. Environmental factors (temperature, humidity, air pollution) could influence R...

    Authors: Silvia Vandini, Luigi Corvaglia, Rosina Alessandroni, Giulia Aquilano, Concetta Marsico, Marica Spinelli, Marcello Lanari and Giacomo Faldella
    Citation: Italian Journal of Pediatrics 2013 39:1
  11. Fractional exhaled nitric oxide (FeNO) is a non invasive method for assessing the inflammatory status of children with airway disease. Different ways to measure FeNO levels are currently available. The possibi...

    Authors: Angelo Manna, Carlo Caffarelli, Margherita Varini, Carlotta Povesi Dascola, Silvia Montella, Marco Maglione, Francesco Sperlì and Francesca Santamaria
    Citation: Italian Journal of Pediatrics 2012 38:74
  12. The cardiovascular disease represents the leading cause of morbidity and mortality in Western countries and it is related to the atherosclerotic process. Cardiovascular disease risk factors, such as dyslipidem...

    Authors: Ornella Guardamagna, Francesca Abello, Paola Cagliero and Lorenzo Lughetti
    Citation: Italian Journal of Pediatrics 2012 38:73
  13. Herpes simplex encephalitis is associated with substantial morbidity and mortality and may be related to timely diagnosis and treatment. While awaiting the results of testing, hospitalization and empiric treat...

    Authors: Dina M Kulik, Magda Mekky, Ming Yang, Ari Bitnun and Patricia C Parkin
    Citation: Italian Journal of Pediatrics 2012 38:72
  14. Among legumes, lentils seem to be the most common legume implicated in pediatric allergic reactions in the Mediterranean area and India, and usually they start early in life, below 4 years of age.

    Authors: Giovanna Vitaliti, Ignazio Morselli, Valeria Di Stefano, Angela Lanzafame, Mario La Rosa and Salvatore Leonardi
    Citation: Italian Journal of Pediatrics 2012 38:71
  15. The use of complementary and alternative medicine (CAM) has not been widely studied among children in Italy. ISTAT-2005 survey showed a prevalence of 10% concerning children treated with CAM. The lack of data ...

    Authors: Teresa Rita Dolceamore, Federica Altomare, Francesco Zurlo and Roberto Miniero
    Citation: Italian Journal of Pediatrics 2012 38:70
  16. Blastomycosis, caused by the thermally dimorphic fungus Blastomyces dermatitidis is a systemic pyogranulomatous infection, endemic in United States and Canada, with few reported cases in Africa and Asia. It is...

    Authors: Margherita Codifava, Azzurra Guerra, Giulio Rossi, Paolo Paolucci and Lorenzo Iughetti
    Citation: Italian Journal of Pediatrics 2012 38:69
  17. Birth defects are defined as those conditions that are substantially determined before or during birth and which are recognizable in early life. They are an important cause of morbidity and mortality in infant...

    Authors: Mohammad Zeeshan Raza, Asfandyar Sheikh, Syed Salman Ahmed, Sajid Ali and Syed Mumtaz Ali Naqvi
    Citation: Italian Journal of Pediatrics 2012 38:68
  18. Neonatal testicular tumors are rare and should be considered in the differential diagnosis of newborn scrotal masses. Juvenile granulosa cell tumor (JGCT) accounts for about 5% of all prepubertal testis tumors...

    Authors: Anna Lavinia Bulotta, Francesco Molinaro, Rossella Angotti, Francesco Ferrara, Giovanni Di Maggio, Edoardo Bindi and Mario Messina
    Citation: Italian Journal of Pediatrics 2012 38:67
  19. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular pain.

    Authors: Hala Salah El-Din Talaat, Mohamed Farouk Mohamed, Nihal Mohamed Mohamed El Rifai and Mohamed Ali Gomaa
    Citation: Italian Journal of Pediatrics 2012 38:66
  20. Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been des...

    Authors: Daniela Melis, Gerarda Cappuccio, Virginia Maria Ginocchio, Giorgia Minopoli, Maurizia Valli, Massimiliano Corradi and Generoso Andria
    Citation: Italian Journal of Pediatrics 2012 38:65
  21. We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct dia...

    Authors: Giulia Paolella, Pasquale Pisano, Raffaele Albano, Lucio Cannaviello, Carolina Mauro, Gabriella Esposito and Pietro Vajro
    Citation: Italian Journal of Pediatrics 2012 38:64
  22. To evaluate whether the addition of a probiotic could improve Helicobacter pylori (H.P.) eradication rates and reduce the side effects of treatment in children.

    Authors: Salvatore Tolone, Valeria Pellino, Giovanna Vitaliti, Angela lanzafame and Carlo Tolone
    Citation: Italian Journal of Pediatrics 2012 38:63
  23. Severe tracheomalacia presents a significant challenge for Paediatricians, Intensivists, Respiratory Physicians, Otolaryngologists and Paediatric Surgeons. The treatment of tracheomacia remains controversial, ...

    Authors: Michele Torre, Marcello Carlucci, Simone Speggiorin and Martin J Elliott
    Citation: Italian Journal of Pediatrics 2012 38:62
  24. Acquired complete heart block, in pediatric age is mainly the results of direct injury to conduction tissue during cardiac surgery or cardiac catheterisation. It can also be observed in different clinical sett...

    Authors: Nicola Carano, Ilaria Bo, Bertrand Tchana, Erica Vecchione, Silvia Fantoni and Aldo Agnetti
    Citation: Italian Journal of Pediatrics 2012 38:61
  25. It’s well established that asthma, allergic rhinitis and rhinosinusitis are three closely related disease. In pediatrics, these conditions represent a common issue in daily practice. The scientific community h...

    Authors: Davide Caimmi, Alessia Marseglia, Giovanni Pieri, Serena Benzo, Luca Bosa and Silvia Caimmi
    Citation: Italian Journal of Pediatrics 2012 38:60
  26. Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypok...

    Authors: Cristina Lovera, Francesco Porta, Anna Caciotti, Serena Catarzi, Michela Cassanello, Ubaldo Caruso, Maria Rita Gallina, Amelia Morrone and Marco Spada
    Citation: Italian Journal of Pediatrics 2012 38:59
  27. To evaluate medical, economical and sociological variables underlying avoidable pediatric migration from Campania region.

    Authors: Pietro Vajro, Giulia Paolella, Egidio Celentano, Giuseppe Longo, Tullia Saccheri, Claudio Pinto, Giuseppe Masullo, Virginia Scafarto and Attilio Montano Bianchi
    Citation: Italian Journal of Pediatrics 2012 38:58
  28. We report on a case of autoimmune thyroiditis in a 6-month-old patient with cortico-resistant nephrotic syndrome. Normal serum levels of thyroid hormons and thyroid-stimulating hormone were detected with high ...

    Authors: Flavia Urbano, Angelo Acquafredda, Gabriella Aceto, Rosa Penza and Luciano Cavallo
    Citation: Italian Journal of Pediatrics 2012 38:57
  29. Subclinical hypothyroidism (SH) is a relatively common condition characterized by a mild persistent thyroid failure. The management of children with SH is still a controversial issue and the decision to treat ...

    Authors: Raffaella Di Mase, Manuela Cerbone, Nicola Improda, Andrea Esposito, Donatella Capalbo, Ciro Mainolfi, Francesca Santamaria, Claudio Pignata and Mariacarolina Salerno
    Citation: Italian Journal of Pediatrics 2012 38:56
  30. The epidemics of overweight and obesity has resulted in a significant increase of non alcoholic fatty liver disease (NAFLD), a potentially progressive condition. Currently, obesity related hepatopathy represen...

    Authors: Pietro Vajro, Selvaggia Lenta, Claudio Pignata, Mariacarolina Salerno, Roberta D’Aniello, Ida De Micco, Giulia Paolella and Giancarlo Parenti
    Citation: Italian Journal of Pediatrics 2012 38:55
  31. Turner Syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of about 1/2000 females live birth. Most important clinical features of TS are short stature and go...

    Authors: Nicola Improda, Martina Rezzuto, Sara Alfano, Giancarlo Parenti, Pietro Vajro, Claudio Pignata and Mariacarolina Salerno
    Citation: Italian Journal of Pediatrics 2012 38:54
  32. Iodine-131-metaiodiobenzylguanidine (131I-MIBG) therapy combined with allogeneic cord blood stem cell transplantation (SCT) was used to treat a 4-year-old girl with recurrent neuroblastoma. The patient experience...

    Authors: Yuya Sato, Hidemitsu Kurosawa, Keitaro Fukushima, Mayuko Okuya, Susumu Hagisawa, Kenichi Sugita, Osamu Arisaka, Anri Inaki, Hiroshi Wakabayashi, Ayane Nakamura, Makoto Fukuoka, Daiki Kayano and Seigo Kinuya
    Citation: Italian Journal of Pediatrics 2012 38:53
  33. An increasing number of foetuses are recognized as having double Y because of the widespread use of prenatal screening using chorionic villus sampling and amniocentesis. 47, XYY karyotype occurs in about one o...

    Authors: Faustina Lalatta, Emanuela Folliero, Ugo Cavallari, Marina Di Segni, Barbara Gentilin, Roberto Fogliani, Donatella Quagliarini, Paola Vizziello, Federico Monti and Luigi Gargantini
    Citation: Italian Journal of Pediatrics 2012 38:52
  34. Nasal cytology is a very useful diagnostic tool in nasal disorders, being able to detect both the cellular modifications of the nasal epithelium caused by either allergen exposure or irritative stimuli (that m...

    Authors: Matteo Gelardi, Gian Luigi Marseglia, Amelia Licari, Massimo Landi, Ilaria Dell’Albani, Cristoforo Incorvaia, Franco Frati and Nicola Quaranta
    Citation: Italian Journal of Pediatrics 2012 38:51
  35. The sensitization to more allergens, such as polysenitization, is becoming a frequent characteristic of allergic patients, since the childhood. However, this phenomenon is considered an obstacle to prescribe i...

    Authors: Giorgio Ciprandi, Cristoforo Incorvaia, Paola Puccinelli, Ilaria Dell’Albani and Franco Frati
    Citation: Italian Journal of Pediatrics 2012 38:50
  36. Antiphospholipid syndrome (APS) is characterized by recurrent arterial and venous thrombosis and detection of antiphospholipid antibodies (aPLs). This syndrome may be associated with connective tissue disorder...

    Authors: Nicola Improda, Maria Alessio, Donatella Capalbo, Giustina Russo, Ida D’Acunzo, Loredana Palamaro, Claudio Pignata and Mariacarolina Salerno
    Citation: Italian Journal of Pediatrics 2012 38:49
  37. Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ect...

    Authors: Donatella Capalbo, Maria Giuseppa Scala, Daniela Melis, Giorgia Minopoli, Nicola Improda, Loredana Palamaro, Claudio Pignata and Mariacarolina Salerno
    Citation: Italian Journal of Pediatrics 2012 38:48
  38. We report on a female patient affected by galactosemia in whom the diagnosis was obscured by the concomitant presence of manifestations suggesting a cow’s milk intolerance. This case exemplifies the problems i...

    Authors: Roberto Della Casa, Carla Ungaro, Emma Acampora, Claudio Pignata, Pietro Vajro, Mariacarolina Salerno, Francesca Santamaria and Giancarlo Parenti
    Citation: Italian Journal of Pediatrics 2012 38:47
  39. Interleukin-12 (IL-12) is involved in cellular immune responses against intracellular pathogens by promoting the generation of T naive in T helper 1 (Th1) cells and by increasing interferon-gamma (IFN-gamma) p...

    Authors: Loredana Palamaro, Giuliana Giardino, Francesca Santamaria, Rosa Romano, Anna Fusco, Silvia Montella, Mariacarolina Salerno, Matilde Valeria Ursini and Claudio Pignata
    Citation: Italian Journal of Pediatrics 2012 38:46
  40. The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination. Affected patients show humoral immunodeficiency and...

    Authors: Silvia Montella, Marco Maglione, Giuliana Giardino, Angela Di Giorgio, Loredana Palamaro, Virginia Mirra, Matilde Valeria Ursini, Mariacarolina Salerno, Claudio Pignata, Carlo Caffarelli and Francesca Santamaria
    Citation: Italian Journal of Pediatrics 2012 38:45
  41. We aimed to evaluate thyroid functions and volumes and detect abnormalities in 80 neonates with Down syndrome.

    Authors: Dilek Sarici, Mustafa Ali Akin, Selim Kurtoglu, Tamer Gunes, Mehmet Adnan Ozturk and Mustafa Akcakus
    Citation: Italian Journal of Pediatrics 2012 38:44
  42. Exercise-induced anaphylaxis (EIA) is a distinct form of physical allergy. The development of anaphylaxis during exertion often requires the concomitant exposure to triggering factors such as intake of foods (...

    Authors: Carlotta Povesi Dascola and Carlo Caffarelli
    Citation: Italian Journal of Pediatrics 2012 38:43
  43. Clustering of Autoimmune Diseases (CAD) is now emerging as a novel clinical entity within monogenic immune defects with a high familial occurrence. Aim of this study is to evaluate the regulatory mechanisms go...

    Authors: Loredana Palamaro, Giuliana Giardino, Francesca Santamaria, Ugo Ramenghi, Umberto Dianzani and Claudio Pignata
    Citation: Italian Journal of Pediatrics 2012 38:42
  44. Fever is an extremely common sign in paediatric patients and the most common cause for a child to be taken to the doctor. The literature indicates that physicians and parents have too many misconceptions and c...

    Authors: Figen Demir and Ozgur Sekreter
    Citation: Italian Journal of Pediatrics 2012 38:40
  45. Cardiomyopathy is noted in up to 40% of infants of diabetic mothers, and the exact mechanisms responsible for it are unknown. The aim of this study was to compare between infants of diabetic mothers (IDM) and ...

    Authors: Afaf Korraa, Mohamed Hesham Ezzat, Mahmoud Bastawy, Hassan Aly, Abdel-Azeem El-Mazary and Lobna Abd El-Aziz
    Citation: Italian Journal of Pediatrics 2012 38:39
  46. The most striking event in the whole process of female puberty is the onset of menstruation. To our knowledge, no large population-based studies have been performed on the topic of menstrual health among Itali...

    Authors: Franco Rigon, Vincenzo De Sanctis, Sergio Bernasconi, Luigi Bianchin, Gianni Bona, Mauro Bozzola, Fabio Buzi, Giorgio Radetti, Luciano Tatò, Giorgio Tonini, Carlo De Sanctis and Egle Perissinotto
    Citation: Italian Journal of Pediatrics 2012 38:38
  47. Psycho-social outcome in children after liver transplantation (LT) is known to be inferior to age-related peers. Yet, when children and their parents are questioned by their nurse or physician about the child’...

    Authors: Ana Maria Calinescu, Valérie A McLin, Dominque Belli and Barbara E Wildhaber
    Citation: Italian Journal of Pediatrics 2012 38:37

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