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  1. To investigate the resistance-gene mutation of Mycoplasma pneumoniae (MP) in the bronchoalveolar lavage fluid of children with Mycoplasma pneumoniae pneumonia (MPP) and the clinical characteristics of refractory ...

    Authors: Xiao-Wen Zhan, Li-Ping Deng, Zhi-Yuan Wang, Ju Zhang, Meng-Zhu Wang and Shu-Jun Li
    Citation: Italian Journal of Pediatrics 2022 48:190
  2. In this review, we report the developments across pediatric subspecialties that have been published in the Italian Journal of Pediatrics in 2021. We highlight advances in allergy and immunology, critical care,...

    Authors: Carlo Caffarelli, Francesca Santamaria, Ettore Piro, Simona Basilicata, Valeria Delle Cave, Marilena Cipullo, Sergio Bernasconi and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:189
  3. To investigate the association between maternal and neonatal exposure to the relevant influencing factors and risk of moderate or severe hypoxic ischemic encephalopathy (HIE), and the possible interactions in ...

    Authors: Yiran Wang, Shuying Luo, Kaijuan Wang, Yuwei Hou, Hui Yan and Yaodong Zhang
    Citation: Italian Journal of Pediatrics 2022 48:188
  4. Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions. Pompe disease is progr...

    Authors: Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang and Lulu Zhang
    Citation: Italian Journal of Pediatrics 2022 48:187
  5. Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling,...

    Authors: Ilenia Chillura, Giulia Angela Restivo, Simonetta Callari, Sabrina Cibella, Maria Michela D’Alessandro, Ciro Corrado, Mario Vallone, Vincenzo Antona and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:186
  6. The aim of this research is to identify and study the role of social, demographic and territorial factors in the late detection of children with hip dysplasia.

    Authors: Zhanna Tastanbekova, Roza Karabekova, Vassiliy Lozovoy, Aleksandr Angelov, Zhomart Suleimenov and Rimma Khuzhakhmedova
    Citation: Italian Journal of Pediatrics 2022 48:185
  7. Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically heterogeneous disease characterized by absent or incomplete puberty and infertility. Clinical characteristics are secondary to ins...

    Authors: Darja Šmigoc Schweiger, Maja Davidović Povše, Katarina Trebušak Podkrajšek, Tadej Battelino and Magdalena Avbelj Stefanija
    Citation: Italian Journal of Pediatrics 2022 48:184
  8. Lymphomatoid papulosis (LyP) is a rare condition in pediatrics; LyP histological type D has been reported in only 7 children. The differential diagnosis of LyP in the spectrum of lymphoid proliferation remains...

    Authors: Valeria Calcaterra, Riccardo Cavalli, Giorgio A. Croci, Laura Fiori, Antonella Fabiano, Luisa Lunardon, Maria Antonietta Avanzini, Emilio Berti and Gianvincenzo Zuccotti
    Citation: Italian Journal of Pediatrics 2022 48:183
  9. Hao-Fountain syndrome is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay and, in some males patients, it has ...

    Authors: Nicola Zampieri, Rebecca Pulvirenti, Eleonora Pedrazzoli and Francesco Saverio Camoglio
    Citation: Italian Journal of Pediatrics 2022 48:182
  10. A 13-year-old Chinese girl attended to our Pediatric Dermatology Unit for the appearance of itchy targetoid lesions on the trunk, face and upper limbs. A skin biopsy showed histological findings typical of ery...

    Authors: Francesco Messina, Laura Fagotto, Francesca Caroppo, Roberto Salmaso and Anna Belloni Fortina
    Citation: Italian Journal of Pediatrics 2022 48:181
  11. Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal...

    Authors: Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli and Claudio Bruno
    Citation: Italian Journal of Pediatrics 2022 48:180
  12. Neonatal jaundice is a transitional phenomenon affecting three out of five full-term newborns globally. Ursodeoxycholic acid could be beneficial in neonatal jaundice needing phototherapy. 

    Authors: Glen Lazarus, Jerrell Francie, Rosalina Dewi Roeslani, Siti Rizny Fitriana Saldi and Hanifah Oswari
    Citation: Italian Journal of Pediatrics 2022 48:179
  13. Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal re...

    Authors: E. Lebredonchel, A. Riquet, D. Neut, F. Broly, G. Matthijs, A. Klein and F. Foulquier
    Citation: Italian Journal of Pediatrics 2022 48:178
  14. Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by deafness, branchiogenic malformations and renal abnormalities. Pathogenic variants in EYA1, SIX1 and SIX5 genes cause almost ha...

    Authors: Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina and Donatella Milani
    Citation: Italian Journal of Pediatrics 2022 48:177
  15. Cholestasis in extremely premature infants (EPI) constitutes a nutritional challenge and maltodextrins have been reported as a possible strategy for hypoglycaemia. We aim to describe the nutritional management...

    Authors: Irene Degrassi, Martina Chiara Pascuzzi, Enza D’Auria, Laura Fiori, Dario Dilillo, Gianluca Lista, Francesca Maria Castoldi, Francesco Cavigioli, Alessandra Bosetti, Alessandro Pellegrinelli, Gian Vincenzo Zuccotti and Elvira Verduci
    Citation: Italian Journal of Pediatrics 2022 48:175
  16. Pregnant women are one of the most vulnerable groups in the Covid-19 pandemic. Due to the lack of knowledge about fetal and perinatal complications following Covid-19 infection, the association of Covid-19 pan...

    Authors: Mohammad Heidarzadeh, Mahshid Taheri, Zohreh Mazaheripour and Fariba Abbasi-Khameneh
    Citation: Italian Journal of Pediatrics 2022 48:174
  17. Healthy sleep is essential for the cognitive, behavioral and emotional development of children. Therefore, this study aimed to assess the behavioral consequences of sleep disturbances by examining children wit...

    Authors: Eszter Csábi, Veronika Gaál, Emese Hallgató, Rebeka Anna Schulcz, Gábor Katona and Pálma Benedek
    Citation: Italian Journal of Pediatrics 2022 48:173
  18. Nutrition has a central role in child growth with long-term effects, and nutrition management in gastrointestinal disorders has great importance for child health and disease outcomes. Breast milk is the first ...

    Authors: Giulio Pulvirenti, Vincenzo Sortino, Sara Manti, Giuseppe Fabio Parisi, Maria Papale, Alessandro Giallongo and Salvatore Leonardi
    Citation: Italian Journal of Pediatrics 2022 48:172
  19. The relative high frequency of menstrual irregularities in the first two–three years after menarche may lead to the risk of underestimation of associated pathological conditions, which are always to be accurat...

    Authors: Arianna Barbero, Manuela Pagano, Gerdi Tuli, Raffaele Buganza, Luisa de Sanctis and Claudia Bondone
    Citation: Italian Journal of Pediatrics 2022 48:171
  20. Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is p...

    Authors: Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz and Ettore Piro
    Citation: Italian Journal of Pediatrics 2022 48:170
  21. Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the prenatal period. Our study aimed to present different cli...

    Authors: Serap Bilge, Gülen Gül Mert, Özlem Hergüner, Duygu Özcanyüz, Sevcan Tuğ Bozdoğan, Ömer Kaya and Cengiz Havalı
    Citation: Italian Journal of Pediatrics 2022 48:169
  22. Childhood obesity and its associated comorbidities are highly prevalent diseases that may add to any other possible health problem commonly affecting the pediatric age. Uncertainties may arise concerning drug ...

    Authors: Francesca Gaeta, Valeria Conti, Angela Pepe, Pietro Vajro, Amelia Filippelli and Claudia Mandato
    Citation: Italian Journal of Pediatrics 2022 48:168
  23. Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking.

    Authors: Sergio Ghirardo, Letizia Sabatini, Alessandro Onofri, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Daria Diodato, Lorena Travaglini, Fabrizia Stregapede, Marta Luisa Ciofi degli Atti, Claudio Cherchi and Renato Cutrera
    Citation: Italian Journal of Pediatrics 2022 48:167
  24. Goldenhar syndrome (GS) is a rare congenital disease characterized by impaired development of different facial structures and deformations of the teeth structures. Sialorrhea, which can cause difficulties in b...

    Authors: Gessica Della Bella, Enrico Castelli and Federico Vigevano
    Citation: Italian Journal of Pediatrics 2022 48:166
  25. Intraosseous (IO) access offers a fast and reliable route for administration of fluids and drugs when intravenous (IV) accesses like umbilical, peripheral, or peripherally inserted central lines fail in critic...

    Authors: Saverio De Marca, Matteo Calafatti, Luciana Romaniello, Simona Pesce, Rosa Lapolla and Camilla Gizzi
    Citation: Italian Journal of Pediatrics 2022 48:165
  26. Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mu...

    Authors: Loredana De Pasquale, Petronilla Meo, Francesco Fulia, Antonio Anania, Valerio Meli, Antonina Mondello, Maria Tindara Raimondo, Viviana Tulino, Maria Sole Coletta and Caterina Cacace
    Citation: Italian Journal of Pediatrics 2022 48:164
  27. The study aims to describe the lingual laser frenotomy perioperative protocol for newborns with ankyloglossia with or without breastfeeding difficulties developed by Odontostomatology and Neonatology and Neona...

    Authors: Fabio Dell’Olio, Maria Elisabetta Baldassarre, Fabio Giovanni Russo, Federico Schettini, Rosaria Arianna Siciliani, Pietro Paolo Mezzapesa, Angela Tempesta, Nicola Laforgia, Gianfranco Favia and Luisa Limongelli
    Citation: Italian Journal of Pediatrics 2022 48:163
  28. The majority of studies are limited to adverse perinatal outcomes and poor cognitive abilities in the short term in discordant monochorionic twins.

    Authors: Huiqiu Xiang, Xianping Huang, Jing Zhu, Jiajia Chen, Pangpang Zhou, Tong Zhou, Jiale Bao and Zhangye Xu
    Citation: Italian Journal of Pediatrics 2022 48:162
  29. In this article, the developments in the field of COVID-19 pandemic published in the Italian Journal of Pediatrics in 2021 are reflected. We describe progresses in SARS-CoV-2 transmission route, clinical prese...

    Authors: Elena Bozzola, Carlo Caffarelli, Francesca Santamaria and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:161
  30. Acute pancreatitis is a disorder of reversible inflammation of the pancreas. Only a few cases are related to infections and the most common pathogens are the viruses responsible for mumps, parotitis, and influ...

    Authors: Salvatore Accomando, Giulia Angela Restivo, Simona Scalzo, Melania Guardino, Giovanni Corsello and Mario Giuffrè
    Citation: Italian Journal of Pediatrics 2022 48:160
  31. Along with the wide spread application and technical development of the flexible and rigid bronchoscopy, the airway foreign body removing method cme to the specific technique for different foreign bodies from ...

    Authors: Lin-Lin Han, Chen Meng, Zhong-Xiao Zhang, Xiao-Di Tang, Jing Ma and Chang-Xiao Li
    Citation: Italian Journal of Pediatrics 2022 48:159
  32. Henoch-Schönlein purpura (HSP) is an IgA-mediated small vessel vasculitis, typical of childhood. It’s a self-limiting disease and it affects different systems. HSP is characterized by dermatological, abdominal...

    Authors: Francesca Casini, Vittoria Carlotta Magenes, Marina De Sanctis, Maurizio Gattinara, Marco Pandolfi, Stefano Cambiaghi, Gian Vincenzo Zuccotti and Valentina Fabiano
    Citation: Italian Journal of Pediatrics 2022 48:158
  33. Mutations in the neuronal sodium voltage-gated channel, alpha subunit 1 (SCN1A) gene have been associated with epilepsy. We investigated the SCN1A-A3184G polymorphism among Egyptian children and adolescents with ...

    Authors: Esraa Ghazala, Doaa A. Shahin and Yahya Wahba
    Citation: Italian Journal of Pediatrics 2022 48:157
  34. Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnos...

    Authors: Sara Isoldi, Giovanni Di Nardo, Saverio Mallardo, Pasquale Parisi, Umberto Raucci, Renato Tambucci, Paolo Quitadamo, Silvia Salvatore, Enrico Felici, Fabio Cisarò, Licia Pensabene, Claudia Banzato, Caterina Strisciuglio, Claudio Romano, Patrizia Fusco, Francesca Rigotti…
    Citation: Italian Journal of Pediatrics 2022 48:156
  35. Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic has been challenging health care systems and made it necessary to use rapid and cost-effective testing methods, particularly in Emergency D...

    Authors: Angela Pepe, Francesco Valitutti, Deborah Veneruso, Martina Bove, Anna Giulia Elena De Anseris, Lucia Nazzaro, Pasquale Pisano, Daniela Melis and Claudia Mandato
    Citation: Italian Journal of Pediatrics 2022 48:155
  36. CHARGE syndrome (CS) is an autosomal dominant genetic condition whose recognition in the neonatal period is complicated by considerable phenotypic variability. Pediatric patients with genetic disorders have a ...

    Authors: Alessandra Consales, Beatrice Letizia Crippa, Lorenzo Colombo, Roberta Villa, Francesca Menni, Claudia Giavoli, Fabio Mosca and Maria Francesca Bedeschi
    Citation: Italian Journal of Pediatrics 2022 48:154
  37. Mycoplasma pneumoniae pneumonia (MPP) is a prevalent disease in community-acquired pneumonia among children. However, in addition to respiratory manifestations, it may also develop extra-pulmonary complications. ...

    Authors: Chunjiao Han, Tongqiang Zhang, Jiafeng Zheng, Peng Jin, Qi Zhang, Wei Guo and Yongsheng Xu
    Citation: Italian Journal of Pediatrics 2022 48:153
  38. Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second ...

    Authors: Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello and Maria Piccione
    Citation: Italian Journal of Pediatrics 2022 48:152
  39. The impact of socio-economic status on the risk of allergy in African children is not clear.

    Authors: Chiara Zuiani, Michele Arigliani, Ramatu Zubair, Livingstone Gayus Dogara, Luigi Castriotta, Ashel Dache Sunday, Reward Christopher Audu, Habibah Dadan-Garba, Zakary Sani, Baba Inusa and Paola Cogo
    Citation: Italian Journal of Pediatrics 2022 48:151
  40. During the first and second COVID-19 pandemic waves, children, despite susceptible to SARS-CoV-2 infection, appeared at lower risk of severe disease, hospitalization, and death than adults and the elderly. Mor...

    Authors: Susanna Esposito, Rosanna Giordano, Giulia Paini, Matteo Puntoni, Nicola Principi and Caterina Caminiti
    Citation: Italian Journal of Pediatrics 2022 48:150
  41. Chronic kidney disease stage 5 (CKD 5) populations have peculiar risk for severe Covid-19 infection. Moreover; pediatric data are sparse and lacking. The aim of this study is to report our experience in CKD 5 ...

    Authors: Fatina I. Fadel, Samar Sabry, Mohamed A. Abdel Mawla, Rasha Essam Eldin Galal, Doaa M. Salah, Rasha Helmy, Yasmen Ramadan, Wessam Elzayat, May Abdelfattah and Eman Abobakr Abd Alazem
    Citation: Italian Journal of Pediatrics 2022 48:149
  42. Adenosine deaminase (ADA) is an enzyme involved in purine metabolism with an important role in cellular immunity. Thus, this study investigated the association between ADA and Epstein–Barr virus (EBV)-related ...

    Authors: Ting Shi, Yu Shen, Wei Zhang, Meiying Qian, Xiuli Chen, Linlin Huang and Jianmei Tian
    Citation: Italian Journal of Pediatrics 2022 48:148
  43. The aim of our study was to better define the clinical pattern of diencephalic syndrome, a rare but potentially lethal cause of failure to thrive in infancy. Poor weight gain or weight loss, the characteristic...

    Authors: Sandra Trapani, Barbara Bortone, Martina Bianconi, Chiara Rubino, Iacopo Sardi, Paolo Lionetti and Giuseppe Indolfi
    Citation: Italian Journal of Pediatrics 2022 48:147
  44. The practice of therapeutic hypothermia (TH) is widely used for neonatal hypoxic-ischemic encephalopathy (HIE) despite its corresponding feeding strategies are still controversial. This randomized controlled t...

    Authors: Ya Hu, Feng Chen, Xinyu Xiang, Fang Wang, Ziyu Hua and Hong Wei
    Citation: Italian Journal of Pediatrics 2022 48:146
  45. Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overal...

    Authors: Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:145
  46. During the Coronavirus-19 disease (Covid-19) pandemic it was observed that the number of girls presenting with early puberty had increased. The aim of this study was to carry out a retrospective evaluation of ...

    Authors: Gul Yesiltepe Mutlu, Elif Eviz, Belma Haliloglu, Heves Kirmizibekmez, Fatma Dursun, Servan Ozalkak, Atilla Cayir, Beste Yuksel Sacli, Mehmet Nuri Ozbek, Huseyin Demirbilek and Sukru Hatun
    Citation: Italian Journal of Pediatrics 2022 48:144
  47. Nutrition in the first 1000 days of life is essential to ensure appropriate growth rates, prevent adverse short- and long-term outcomes, and allow physiologic neurocognitive development. Appropriate management...

    Authors: Maria Elisabetta Baldassarre, Raffaella Panza, Francesco Cresi, Guglielmo Salvatori, Luigi Corvaglia, Arianna Aceti, Maria Lorella Giannì, Nadia Liotto, Laura Ilardi, Nicola Laforgia, Luca Maggio, Paolo Lionetti, Carlo Agostoni, Luigi Orfeo, Antonio Di Mauro, Annamaria Staiano…
    Citation: Italian Journal of Pediatrics 2022 48:143
  48. From March 2020 to July 2022, in Liguria region (North-West Italy) incidence of MIS-C among pediatric patients infected by SARS-CoV-2 was 38.7/100.000, which is higher than that of myocarditis after COVID-19 v...

    Authors: Marcello Mariani, Roberta Caorsi, Alessandro Consolaro, Giacomo Brisca, Camilla Sticchi, Marco Gattorno, Elio Castagnola and Angelo Ravelli
    Citation: Italian Journal of Pediatrics 2022 48:142
  49. Cystic fibrosis (CF) is the most common inherited disease in Caucasian populations, affecting around 50,000 patients in Europe and 30,000 in United States. A mutation in CF trans-membrane conductance regulator (C...

    Authors: Vito Terlizzi, Chiara Castellani, Giovanni Taccetti and Beatrice Ferrari
    Citation: Italian Journal of Pediatrics 2022 48:141

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