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  1. Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia. Few reports are available about the p.Pro364Leu mut...

    Authors: Laura Cozzi, Federica Nuti, Irene Degrassi, Daniela Civeriati, Giulia Paolella and Gabriella Nebbia
    Citation: Italian Journal of Pediatrics 2022 48:59
  2. Epidermolysis bullosa (EB) is a disabling and chronic genodermatosis characterized by mucocutaneous fragility with blister formation after minimal trauma. Severity ranges between very mild forms to extremely s...

    Authors: Chiara Retrosi, Andrea Diociaiuti, Cristiana De Ranieri, Marialuisa Corbeddu, Claudia Carnevale, Simona Giancristoforo, Maria Rosaria Marchili, Guglielmo Salvatori, Marta Luisa Ciofi degli Atti, Maya El Hachem and Massimiliano Raponi
    Citation: Italian Journal of Pediatrics 2022 48:58
  3. Cardiovascular diseases are the main causes of death and health costs in developed countries. Although cardiovascular diseases are thought to affect only adulthood, the underlying process of atherosclerosis be...

    Authors: Maria Candelino, Veronica Maria Tagi and Francesco Chiarelli
    Citation: Italian Journal of Pediatrics 2022 48:57
  4. Bullying is recognized as one of the most significant social and health problems in the school environment for children and adolescents. In Italy, bullying involved 2 in 10 kids between 11–17 years that referr...

    Authors: Claudio Costantino, Walter Mazzucco, Francesco Scarpitta, Gianmarco Ventura, Claudia Marotta, Stefania Enza Bono, Evelina Arcidiacono, Maurizio Gentile, Pierfrancesco Sannasardo, Carlo Roberto Gambino, Claudia Emilia Sannasardo, Carlotta Vella, Francesco Vitale, Alessandra Casuccio and Vincenzo Restivo
    Citation: Italian Journal of Pediatrics 2022 48:56
  5. Chronic granulomatous disease (CGD) is an inborn error of immunity. It is characterized by recurrent bacterial or fungal infections, including infections by Burkholderia species. This is due to respiratory burst ...

    Authors: Qianqian Zhao, Jing Yin, Jijun Ma, Xiaoxue Liu, Jiawen Wu and Chongwei Li
    Citation: Italian Journal of Pediatrics 2022 48:55
  6. Understanding how the use of hoverboards (HBs) can affect a child’s safety is crucial. We describe the characteristics of HB related injuries and provide key messages about child prevention when using these le...

    Authors: Valentina Ferro, Raffaella Nacca, Elena Boccuzzi, Tatiana Federici, Chiara Ossella, Alessandra Merenda, Renato Maria Toniolo, Anna Maria Musolino, Antonino Reale and Umberto Raucci
    Citation: Italian Journal of Pediatrics 2022 48:54
  7. Childhood obesity increases the risk of elevated blood pressure (BP) in children. Body mass index (BMI), waist circumference (WC) and waist-to-height ratio (WHtR) are traditional obesity indices, but the exten...

    Authors: Xiao Tang, Yang Liu, Jiajin Hu, Lingling Zhai, Lihong Jia, Ning Ding, Yanan Ma and Deliang Wen
    Citation: Italian Journal of Pediatrics 2022 48:53
  8. One reason that asthma remains poorly controlled in children is poor inhaler technique. Guidelines recommend checking inhaler technique at each clinical visit. However, they do not specify how best to train ch...

    Authors: Patrick McCrossan, Orla Mallon, Michael D. Shields, Catherine Russell, Lesley Kennedy and Dara O’Donoghue
    Citation: Italian Journal of Pediatrics 2022 48:52
  9. Hypersensitivity pneumonitis (HP) is a rare disease in childhood with the prevalence of 4 cases per 1 million children and an incidence of 2 cases per year. The average age of diagnosis at pediatric age is app...

    Authors: Carla Mastrorilli, Luca Pecoraro, Stefania Arasi, Simona Barni, Lucia Caminiti, Riccardo Castagnoli, Mattia Giovannini, Lucia Liotti, Francesca Mori, Francesca Saretta, Gian Luigi Marseglia and Elio Novembre
    Citation: Italian Journal of Pediatrics 2022 48:51
  10. Attention Deficit and Hyperactivity Disorder (ADHD) is a multi-factorial condition, with inheritance playing a major role. Recognizing parents’ ADHD represents a clue not only for an earlier diagnosis of the d...

    Authors: Luisa Cortellazzo Wiel, Francesco Rispoli, Giulia Peccolo, Valentina Rosolen, Egidio Barbi and Aldo Skabar
    Citation: Italian Journal of Pediatrics 2022 48:50
  11. While several studies have been published so far on the effect of COVID-19 pandemic on health care for non-COVID-19 diseases, to date no study evaluated the impact of the COVID-19 pandemic on the entire field ...

    Authors: Martina Peinkhofer, Benedetta Bossini, Arturo Penco, Manuela Giangreco, Maria Chiara Pellegrin, Viviana Vidonis, Giada Vittori, Nicoletta Grassi, Elena Faleschini, Egidio Barbi and Gianluca Tornese
    Citation: Italian Journal of Pediatrics 2022 48:49
  12. Pompe disease (PD) is a disorder of glycogen metabolism conditioning a progressive and life conditioning myopathy. Enzyme replacement therapy (ERT) is currently the best treatment option for PD, but is not res...

    Authors: Valentina Rovelli, Juri Zuvadelli, Marta Piotto, Andrea Scopari, Alice Re Dionigi, Vittoria Ercoli, Sabrina Paci, Graziella Cefalo, Elisabetta Salvatici and Giuseppe Banderali
    Citation: Italian Journal of Pediatrics 2022 48:48
  13. Over 100 mutations in the SRD5A2 gene have been identified in subjects with 46,XY disorder of sex development (DSD). Exploration of SRD5A2 mutations and elucidation of the molecular mechanisms behind their effect...

    Authors: Liwei Li, Junhong Zhang, Qing Li, Li Qiao, Pengcheng Li, Yi Cui, Shujun Li, Shirui Hao, Tongqian Wu, Lili Liu, Jianmin Yin, Pingsheng Hu, Xiaowei Dou, Shuping Li and Hui Yang
    Citation: Italian Journal of Pediatrics 2022 48:47
  14. Vaccine is an important and effective tool to protect from preventable infectious diseases. Neverthless, in the COVID-19 pandemic era, scientific and accurate information are required to responde to false and ...

    Authors: Annamaria Staiano, Rino Agostiniani, Elena Bozzola, Rocco Russo and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:46
  15. Constitutional delay of growth and puberty (CDGP) is classified as the most frequent cause of delayed puberty (DP). Finding out the etiology of DP during first evaluation may be a challenge. In details, pediat...

    Authors: Rossella Gaudino, Gianpaolo De Filippo, Elena Bozzola, Manuela Gasparri, Mauro Bozzola, Alberto Villani and Giorgio Radetti
    Citation: Italian Journal of Pediatrics 2022 48:45
  16. The causes of an early onset of puberty are still not clearly defined and may vary from subject to subject. In girls, even if 90% of early puberty is idiopathic, magnetic resonance imaging (MRI) of the brain i...

    Authors: Gianpaolo De Filippo, Rossella Gaudino, Valeria Calcaterra, Alberto Villani, Elena Bozzola and Mauro Bozzola
    Citation: Italian Journal of Pediatrics 2022 48:44
  17. Investigations on haematological alterations in paediatric COVID-19 have been focused mostly on lymphocytes and clotting profiles. Neutropenia has been occasionally reported and its course and impact on the di...

    Authors: Francesco Folino, Camilla Menis, Giada Maria Di Pietro, Raffaella Pinzani, Paola Marchisio and Samantha Bosis
    Citation: Italian Journal of Pediatrics 2022 48:43
  18. Two sequelae of pediatric COVID-19 have been identified, the multisystem inflammatory syndrome in children (MIS-C) and the long COVID. Long COVID is much less precisely defined and includes all the persistent ...

    Authors: Susanna Esposito, Nicola Principi, Chiara Azzari, Fabio Cardinale, Giuseppe Di Mauro, Luisa Galli, Guido Castelli Gattinara, Valentina Fainardi, Alfredo Guarino, Laura Lancella, Amelia Licari, Enrica Mancino, Gian Luigi Marseglia, Salvatore Leonardi, Raffaella Nenna, Stefania Zampogna…
    Citation: Italian Journal of Pediatrics 2022 48:42
  19. Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within the first days to weeks of life and, without treatment, patients die of cardiorespiratory failure in ...

    Authors: Vincenza Gragnaniello, Federica Deodato, Serena Gasperini, Maria Alice Donati, Clementina Canessa, Simona Fecarotta, Antonia Pascarella, Giuseppe Spadaro, Daniela Concolino, Alberto Burlina, Giancarlo Parenti, Pietro Strisciuglio, Agata Fiumara and Roberto Della Casa
    Citation: Italian Journal of Pediatrics 2022 48:41
  20. Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few ...

    Authors: Lucia Santoro, Dorina Pjetraj, Virtut Velmishi, Carmen Campana, Carlo Catassi, Carlo Dionisi-Vici and Arianna Maiorana
    Citation: Italian Journal of Pediatrics 2022 48:39
  21. Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addit...

    Authors: Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:38
  22. The COVID-19 pandemic and associated public health measures have had a profound impact on health systems worldwide. The aim of this study was to assess quantitative and qualitative changes in Pediatric Emergen...

    Authors: Roberto Antonucci, Maria Grazia Clemente, Luca Antonucci, Alessandro Canetto, Stefania Mastromattei, Noemi Chiapello, Nadia Vacca, Laura Saderi, Giovanni Sotgiu and Cristian Locci
    Citation: Italian Journal of Pediatrics 2022 48:37
  23. Median raphe cyst is usually benign and asymptomatic male genitalia lesions. Although uncommon, infection may be a complication.

    Authors: Sara Romano, Roberto Dall’Amico, Valentina Declich and Egidio Barbi
    Citation: Italian Journal of Pediatrics 2022 48:36
  24. Authors: Marzia Duse, Francesca Santamaria, Maria Carmen Verga, Marcello Bergamini, Giovanni Simeone, Lucia Leonardi, Giovanna Tezza, Annamaria Bianchi, Annalisa Capuano, Fabio Cardinale, Giovanni Cerimoniale, Massimo Landi, Monica Malventano, Mariangela Tosca, Attilio Varricchio, Anna Maria Zicari…
    Citation: Italian Journal of Pediatrics 2022 48:35

    The original article was published in Italian Journal of Pediatrics 2021 47:97

  25. SARS-CoV-2 causes lesions, in addition to lung, in endocrine organs such as the pancreas through ACE2 receptor. Recently the relationship between SARS-CoV-2 exposition and the incidence or evolution of clinica...

    Authors: Riccardo Schiaffini, Andrea Campana, Annalisa Deodati, Emanuela Peschiaroli, Maria Francesca Lanzillotta and Alessandra Fierabracci
    Citation: Italian Journal of Pediatrics 2022 48:33
  26. Emergency Departments play a pivotal role in detecting cases of child abuse. Despite the efforts made in the past decades on the need for a screening method for the early detection of abuse victims, a unique i...

    Authors: Caterina Offidani, Alberto Villani, Antonino Reale, Maria Rosaria Marchili, Lelia Rotondi Aufiero, Patrizio Moras, Maria Lodise, Umberto Raucci, Maria Antonietta Barbieri and Massimiliano Raponi
    Citation: Italian Journal of Pediatrics 2022 48:32
  27. Prefeed gastric residuals (GRs) monitoring has been correlated with an increased time to reach full feeds and longer parenteral nutrition without beneficial effect on necrotizing enterocolitis (NEC) occurrence...

    Authors: Serena Elia, Martina Ciarcià, Francesca Miselli, Giovanna Bertini and Carlo Dani
    Citation: Italian Journal of Pediatrics 2022 48:30
  28. Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is m...

    Authors: Piero Pavone, Xena Giada Pappalardo, Naira Mustafa, Sung Yoon Cho, Dong Kyu Jin, Gemma Incorpora, Raffaele Falsaperla, Simona Domenica Marino, Giovanni Corsello, Enrico Parano and Martino Ruggieri
    Citation: Italian Journal of Pediatrics 2022 48:29
  29. Mobile phone dependence is a common problem in the population of high school students. We aimed to evaluate the core self-evaluation, mental health and mobile phone dependence in Chinese high school students, ...

    Authors: Yun Li, Zhibin Wang, Weiquan You and Xiuqin Liu
    Citation: Italian Journal of Pediatrics 2022 48:28
  30. Variegate Porphyria (VP) is an inherited rare disorder that is caused by mutations in the protoporphyrinogen oxidase (PPOX) gene. This deficiency is associated with the accumulation of porphyrins and porphyrin pr...

    Authors: Mohammad Vafaee-Shahi, Saeide Ghasemi, Aina Riahi and Zahra Sadr
    Citation: Italian Journal of Pediatrics 2022 48:27
  31. The COVID-19 pandemic period is having a strong impact on the management of diabetes as well as other chronic diseases as shown by the most severe clinical presentation at onset. The aim of this study was to e...

    Authors: Concetta Mastromauro, Annalisa Blasetti, Marina Primavera, Lucio Ceglie, Angelika Mohn, Francesco Chiarelli and Cosimo Giannini
    Citation: Italian Journal of Pediatrics 2022 48:26
  32. Multisystem inflammatory syndrome in children (MIS-C) is a novel condition temporally associated with SARS-CoV2 infection. Cardiovascular involvement is mainly evident as acute myocardial dysfunction in MIS-C....

    Authors: Savina Mannarino, Irene Raso, Massimo Garbin, Elena Ghidoni, Carla Corti, Sara Goletto, Luisa Nespoli, Sara Santacesaria, Elena Zoia, Anna Camporesi, Francesca Izzo, Dario Dilillo, Laura Fiori, Enza D’Auria, Annalisa De Silvestri, Alberto Dolci…
    Citation: Italian Journal of Pediatrics 2022 48:25
  33. Hypertrophic cardiomyopathy (HCM) in newborns is a rare condition with heterogeneous etiologies. While the relationship between hyperinsulinism and cardiac hypertrophy (CH) is known, hyperinsulinism has not be...

    Authors: Guglielmo Salvatori, Giulia Brindisi, Mario Colantonio and Anna Maria Zicari
    Citation: Italian Journal of Pediatrics 2022 48:24
  34. Since the first months of 2020, Italy and the world have been facing the COVID-19 pandemic. In addition to the dangerous and potentially deadly effects on physical health, it has caused a radical change in the...

    Authors: Michela Gatta, Alessia Raffagnato, Federica Mason, Rachele Fasolato, Annalisa Traverso, Silvia Zanato and Marina Miscioscia
    Citation: Italian Journal of Pediatrics 2022 48:23
  35. The adverse effects of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) are not limited to the related infectious disease. In children and adolescents, serious risks due to the coronavirus disease ...

    Authors: S. Scapaticci, C. R. Neri, G. L. Marseglia, A. Staiano, F. Chiarelli and E. Verduci
    Citation: Italian Journal of Pediatrics 2022 48:22
  36. To evaluate the role and the advantages of nasopharyngeal swabs in the detection of Influenza A and B viruses and Respiratory syncytial virus through a rapid test based upon a nucleic acid amplification reacti...

    Authors: Simona Nardi, Lorella Carolis, Roberta Iannini, Maria Vittoria De Sandro, Giovanna Solito, Matteo Calafatti and Camilla Gizzi
    Citation: Italian Journal of Pediatrics 2022 48:21
  37. over the last few decades there has been a progressive decline in the average age of onset of pubertal development stages in both sexes. The increase in the prevalence of childhood obesity seems to play an imp...

    Authors: Vittorio Ferrari, Simona Stefanucci, Marta Ferrari, Daniele Ciofi and Stefano Stagi
    Citation: Italian Journal of Pediatrics 2022 48:20
  38. Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the ph...

    Authors: Ingrid Anne Mandy Schierz, Mario Giuffrè, Marcello Cimador, Maria Michela D’Alessandro, Gregorio Serra, Federico Favata, Vincenzo Antona, Ettore Piro and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2022 48:19
  39. The incidence of acute respiratory tract infections (ARTIs) in children is difficult to estimate because they are typically treated in outpatient settings and the majority of epidemiological data originate fro...

    Authors: Chiara Mameli, Marina Picca, Roberto Buzzetti, Maria Elisabetta Pace, Raffaele Badolato, Claudio Cravidi, Gian Vincenzo Zuccotti and Paola Marchisio
    Citation: Italian Journal of Pediatrics 2022 48:18
  40. Human Immune Deficiency Virus infection among children has continued to be a global concern with an estimated 160,000 new infections in 2018. Over 90% acquire HIV from their mother. Currently, 92% of pregnant ...

    Authors: Asrat Alemu, Wondwosen Molla, Kindu Yinges and Muhabaw Shumye Mihret
    Citation: Italian Journal of Pediatrics 2022 48:17

    The Correction to this article has been published in Italian Journal of Pediatrics 2022 48:34

  41. This population-based cross-sectional study aimed to evaluate the prevalence of oral mucosal lesions (OMLs) in children in a rural area in China as epidemiological data on these conditions from such areas are ...

    Authors: Hui Yao, Qianqian Song, Qiongyue Zhang, Guoyao Tang and Mingshan Liu
    Citation: Italian Journal of Pediatrics 2022 48:15
  42. The biochemical hallmarks of transient pseudo-hypoaldosteronism associated with a pyelonephritis include hyponatremia, hyperkalemia, and acidosis. We tested if the kidney-urinary tract ultrasound helps in pred...

    Authors: Noemi Graziano, Carlo Agostoni, Francesca Chiaraviglio, Céline Betti, Arianna Piffer, Mario G. Bianchetti and Gregorio P. Milani
    Citation: Italian Journal of Pediatrics 2022 48:14
  43. Parents after Neonatal Intensive Care Unit (NICU) hospitalization of preterm infant may develop psychopathological symptoms.

    Authors: Serena Salomè, Giuseppina Mansi, Carmine V. Lambiase, Marta Barone, Valeria Piro, Marcella Pesce, Giovanni Sarnelli, Francesco Raimondi and Letizia Capasso
    Citation: Italian Journal of Pediatrics 2022 48:13
  44. Burn is one of the leading causes of preventable death and disability every year in low and middle-income countries, which mainly affects those aged less than 15 years. Death from burn injuries carries the mos...

    Authors: Chalie Marew Tiruneh, Amare Belachew, Sileshi Mulatu, Tigabu Desie Emiru, Nigusie Selomon Tibebu, Moges Wubneh Abate, Adane Birhanu Nigat, Amsalu Belete and Belete Gelaw Walle
    Citation: Italian Journal of Pediatrics 2022 48:12
  45. In the last year, many countries adopted a plan to contain hospital infections by Sars-Cov-2 also limiting pulmonary function tests (PFTs), exclusively to indispensable cases. All the recommendations of the ma...

    Authors: Angela Klain, Cristiana Indolfi, Giulio Dinardo, Fabio Decimo and Michele Miraglia Del Giudice
    Citation: Italian Journal of Pediatrics 2022 48:11
  46. Italy was the first European country to experience a massive outbreak of Sars-coV-2 in March 2020. Severe measures were introduced to face the pandemic, significantly impacting all healthcare services, includi...

    Authors: Veronica Grigoletto, Bianca Nardin, Valentina Taucar, Egidio Barbi and Lucia De Zen
    Citation: Italian Journal of Pediatrics 2022 48:10

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