Methylmalonic Acidemia with Novel MUT Gene Mutations by Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh

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Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features by Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban

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Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient by Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu

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Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression by Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima

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Low Prevalence of Helicobacter Pylori Infection in Canadian Children: A Cross-Sectional Analysis by Idit Segal, Anthony Otley, Robert Issenman, David Armstrong, Victor Espinosa, Ruth Cawdron, Muhammad G Morshed, Kevan Jacobson

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Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome by Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee

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Transient Cholestasis in Newborn Infants with Perinatal Asphyxia by D Herzog, P Chessex, S Martin, F Alvarez

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Prevalence of Gastroesophageal Reflux in Infants with Recurrent Brief Apneic Episodes by Shahid Sheikh, Thomas C Stephen, Barbara Sisson

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The Changing Frequency of Celiac Disease Diagnosed at the Stollery Children’s Hospital by Seema Rajani, Hien Q Huynh, Justine Turner

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Maslinic acid improves mitochondrial function and inhibits oxidative stress and autophagy in human gastric smooth muscle cells by Zheng Xiaoying, Zhang Shuning, Chen Qiaobin

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Provocation of brachial plexus and systemic symptoms during the elevated arm stress test in individuals with myalgic encephalomyelitis/chronic fatigue syndrome or idiopathic chroni... by Charles C. Edwards, Julia M. Byrnes, Camille A. Broussard, Alba M. Azola, Meghan E. Swope, Colleen L. Marden, Renee L. Swope, Ying Wei Lum, Richard L. Violand, Peter C. Rowe

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Leptin decreases Th17/Treg ratio to facilitate neuroblastoma via inhibiting long-chain fatty acid catabolism in tumor cells by Meng Li, Di Li, Hai-Yun Wang, Weixin Zhang, Zhenjian Zhuo, Huiqin Guo, Jiabin Liu, Yue Zhuo, Jue Tang, Jing He, Lei Miao

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Evaluating quality of life improvements in endometriosis patients following laparoscopic surgery using EHP-30 scale by Yuyan Guo, Penghui Huang, Chaobin Liu, Zhenna Wang, Yi Wang, Wei Qi, Xi Xie, Zhenhong Wang, Jinna Zhang, Shunhe Lin

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Myalgia and Hematuria in Association with Clonidine and Arginine Administration for Growth Hormone Stimulation Tests by Meghan Glibbery, Adam Fleming, Rahul Chanchlani, Olufemi Abiodun Ajani, Norma Marchetti, Alexa Marr, M. Constantine Samaan

“…This case highlights an unusual combination of adverse reactions to clonidine and arginine in children undergoing GH stimulation testing to assess for GHD. Pediatric endocrinologists need to be aware of the potential for these side effects to allow appropriate management, and further studies are needed to clarify the mechanisms and frequency of these side effects. …”
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Interactions between Cytokines, Congenital Anomalies of Kidney and Urinary Tract and Chronic Kidney Disease by Ana Cristina Simões e Silva, Flávia Cordeiro Valério, Mariana Affonso Vasconcelos, Débora Marques Miranda, Eduardo Araújo Oliveira

“…Congenital uropathies are frequent causes of pediatric chronic kidney disease (CKD). Imaging techniques clearly contribute to this purpose; however, sometimes, these exams are invasive, very expensive, and not sufficient to precisely define the best approach as well as the prognosis. …”
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The characteristics of intestinal microflora in infants with rotavirus enteritis, changes in microflora before and after treatment and their clinical values by Qiyan Yan, Yuanyuan Chen, E-Bin Gao, Yanbo Lu, Junhua Wu, Haiyan Qiu

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Elevated Aminotransferase Activity as an Indication of Muscular Dystrophy: Case Reports and Review of the Literature by S Zamora, C Adams, JD Butzner, H Machida, Rb Scott

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Rapid Spontaneous Resolution of Fibromatosis Colli in a 3-Week-Old Girl by Paolo Adamoli, Piero Pavone, Raffaele Falsaperla, Roberta Longo, Giovanna Vitaliti, Claudio Andaloro, Serra Agostino, Salvatore Cocuzza

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Efficacy of Adalimumab in a Girl with Refractory Intestinal Behcet’s Disease by Mariko Kaji, Takayuki Kishi, Takako Miyamae, Satoru Nagata, Hisashi Yamanaka, Satoshi Fujikawa

“…This is the first reported case in which adalimumab was used for pediatric gastrointestinal Behcet’s disease. Adalimumab is a good choice for intestinal Behcet’s disease refractory to conventional treatment.…”
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