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Clinical Genetics

  1. MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism. Both the MED13L h...

    Authors: Zhi Yi, Ying Zhang, Zhenfeng Song, Hong Pan, Chengqing Yang, Fei Li, Jiao Xue and Zhenghai Qu

    Citation: Italian Journal of Pediatrics 2020 46:95

    Content type: Case report

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  2. Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condit...

    Authors: Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti…

    Citation: Italian Journal of Pediatrics 2020 46:92

    Content type: Research

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  3. Cerebral palsy (CP) is a non-progressive disorder of movement and posture due to a static insult to the brain. In CP, the depth of investigation is guided by the patients’ medical history and their clinical ex...

    Authors: Liqin Hu, Xiaoqin Xin, Shaobin Lin, Min Luo, Junkun Chen, Hongsheng Qiu, Li Ma and Jungao Huang

    Citation: Italian Journal of Pediatrics 2020 46:88

    Content type: Case report

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  4. Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone. These les...

    Authors: Andrea Trombetta, Vanessa Migliarino, Flavio Faletra, Egidio Barbi and Gianluca Tornese

    Citation: Italian Journal of Pediatrics 2020 46:81

    Content type: Case report

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  5. Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal ab...

    Authors: Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella and Nenad Bukvic

    Citation: Italian Journal of Pediatrics 2020 46:74

    Content type: Case report

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  6. Coarctation of the aorta (CoA), presenting with local stenosis of the aorta is involved in many cardiovascular processes. However, there has been little research on the mechanism of coarctation of the aorta.

    Authors: Siyu Ma, Junqiang Zheng, Yang Xu, Zhaocong Yang, Yu Zhu, Xiaoqi Su and Xuming Mo

    Citation: Italian Journal of Pediatrics 2020 46:63

    Content type: Research

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  7. Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phen...

    Authors: Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Enrica De Luca, Bruno Marino and Paolo Versacci

    Citation: Italian Journal of Pediatrics 2020 46:61

    Content type: Review

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  8. Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofi...

    Authors: Silvia Vannelli, Raffaele Buganza, Federica Runfola, Ilaria Mussinatto, Antonio Andreacchio and Luisa de Sanctis

    Citation: Italian Journal of Pediatrics 2020 46:58

    Content type: Case report

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  9. Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder with variable clinical features and cancer predisposition. In this study, we aim to characterize the clinical features and molecular defects o...

    Authors: Ruixue Wang, Yongmei Xiao, Dan Li, Hui Hu, Xiaolu Li, Ting Ge, Ronghua Yu, Yizhong Wang and Ting Zhang

    Citation: Italian Journal of Pediatrics 2020 46:55

    Content type: Research

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  10. Children with Down syndrome (DS) show a high susceptibility to recurrent infections (RI), caused by immune defects and abnormalities of the airways. Our goal was to investigate the effects of Pidotimod on RI p...

    Authors: Diletta Valentini, Chiara Di Camillo, Nadia Mirante, Valentina Marcellini, Rita Carsetti and Alberto Villani

    Citation: Italian Journal of Pediatrics 2020 46:31

    Content type: Research

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  11. Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhy...

    Authors: Itaru Hayakawa, Yuichi Abe, Hiroshi Ono and Masaya Kubota

    Citation: Italian Journal of Pediatrics 2019 45:165

    Content type: Case report

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  12. Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epileps...

    Authors: Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino and Raffaele Falsaperla

    Citation: Italian Journal of Pediatrics 2019 45:159

    Content type: Case report

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  13. Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvemen...

    Authors: Angelo Florio, Riccardo Papa, Roberta Caorsi, Alessandro Consolaro, Roberto Gastaldi, Marco Gattorno and Paolo Picco

    Citation: Italian Journal of Pediatrics 2019 45:148

    Content type: Letter to the Editor

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  14. 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and ...

    Authors: Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro and Raffaele Falsaperla

    Citation: Italian Journal of Pediatrics 2019 45:138

    Content type: Case report

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  15. Procedural sedation is increasingly needed in pediatrics. Although different drugs or drugs association are available, which is the safest and most efficient has yet to be defined, especially in syndromic chil...

    Authors: Matteo Trevisan, Sara Romano, Egidio Barbi, Irene Bruno, Flora Maria Murru and Giorgio Cozzi

    Citation: Italian Journal of Pediatrics 2019 45:119

    Content type: Case report

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  16. Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our objective was to characterize clinical and genetic spectrum of ILD in Chinese children associated with SFTPC mutat...

    Authors: Da Hong, Dan Dai, Jing Liu, Congcong Zhang, Tingting Jin, Yanyan Shi, Gaoli Jiang, Mei Mei, Libo Wang and Liling Qian

    Citation: Italian Journal of Pediatrics 2019 45:117

    Content type: Research

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  17. Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be m...

    Authors: Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti…

    Citation: Italian Journal of Pediatrics 2019 45:72

    Content type: Research

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  18. Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at the NAGLU gene, which leads to a reduced level of the a...

    Authors: Diana Rojas Malaga, Sandra Leistner-Segal and Ana Carolina Brusius-Facchin

    Citation: Italian Journal of Pediatrics 2019 45:60

    Content type: Letter to the Editor

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