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Pediatric Reports
Volume 11
Issue 3
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Pediatric Reports is published by MDPI from Volume 12 Issue 3 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.

Pediatr. Rep., Volume 11, Issue 3 (June 2019) – 6 articles

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370 KiB  
Case Report
Novel Mutations in NOTCH2 Gene in Infants with Neonatal Cholestasis
by Eliana Shaul, Debora Kogan-Liberman, Stephanie Schuckalo, Dominique Jan, Michelle Ewart, Trang Nguyen, Mercedes Martinez and Nadia Ovchinsky
Pediatr. Rep. 2019, 11(3), 8206; https://doi.org/10.4081/pr.2019.8206 - 30 Sep 2019
Cited by 5 | Viewed by 716
Abstract
One cause of neonatal cholestasis (NC) is paucity of intrahepatic bile ducts which can be associated with Alagille syndrome or non- syndromic. Alagille syndrome is caused by autosomal dominant mutations in the Notch signaling pathway ligand Jagged1 in 94% of patients and mutations [...] Read more.
One cause of neonatal cholestasis (NC) is paucity of intrahepatic bile ducts which can be associated with Alagille syndrome or non- syndromic. Alagille syndrome is caused by autosomal dominant mutations in the Notch signaling pathway ligand Jagged1 in 94% of patients and mutations in the NOTCH2 receptor in <1% of patients. This is a retrospective case series studying infants with neonatal cholestasis found to have variants of unknown significance (VOUS) in NOTCH2. Sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen) were utilized to predict a damaging effect. Five infants with NC without other features of Alagille syndrome were found to have one copy of a VOUS in NOTCH2, predicted to be damaging by SIFT and PolyPhen. Our cases support the notion that NOTCH2 mutations may result in hypoplastic biliary system. Further characterization of these variants is important to assist with our clinical approach to NC. Full article
319 KiB  
Case Report
Short Therapy in a Septic Arthritis of the Neonatal Hip
by Antonio Gatto, Ilaria Lazzareschi, Roberta Onesimo, Rossella Iannotta, Donato Rigante, Lavinia Capossela, Simona Filoni and Piero Valentini
Pediatr. Rep. 2019, 11(3), 8161; https://doi.org/10.4081/pr.2019.8161 - 27 Sep 2019
Cited by 3 | Viewed by 628
Abstract
Septic arthritis (SA) is a serious joint infection associated with significant morbidity that can cause permanent damage with articular cartilage destruction, osteonecrosis and lifelong deformities if not diagnosed and treated promptly. In neonates, because of the paucity of signs and symptoms, SA is [...] Read more.
Septic arthritis (SA) is a serious joint infection associated with significant morbidity that can cause permanent damage with articular cartilage destruction, osteonecrosis and lifelong deformities if not diagnosed and treated promptly. In neonates, because of the paucity of signs and symptoms, SA is difficult to diagnose. The treatment for SA in children is empirical antibiotic for weeks, initially intravenously, and surgical (arthrotomy) in particular for the hip and shoulder because of the high risk of sequelae in these joints. Actually, there isn’t a consensus about the duration of antibiotic treatment, because of the lack of powered studies, and a variable period from 2 weeks to 4 months has been suggested in the literature. Data in the neonatal population are very limited. We describe a case of neonatal hip arthritis with a good outcome treated with a short antibiotic course of 2 weeks. Full article
439 KiB  
Case Report
Treatment Strategy for Pediatric Giant Mucinous Cystadenoma: A Case Report
by Shun Watanabe, Shunsuke Nagashima, Chihiro Onagi, Nobuto Yamazaki, Shuhei Shimada, Masato Sakai, Shun Yanai, Yoichi Haga, Akira Ohara and Minoru Kuroiwa
Pediatr. Rep. 2019, 11(3), 8190; https://doi.org/10.4081/pr.2019.8190 - 24 Sep 2019
Cited by 2 | Viewed by 703
Abstract
Because of their rarity, the treatment strategy for pediatric ovarian epithelial tumors is controversial, especially for a giant cystadenoma. We report the largest mucinous cystadenoma (MCA) case in the pediatric literature thus far. A 12-year-old girl had abdominal distention and visited our hospital. [...] Read more.
Because of their rarity, the treatment strategy for pediatric ovarian epithelial tumors is controversial, especially for a giant cystadenoma. We report the largest mucinous cystadenoma (MCA) case in the pediatric literature thus far. A 12-year-old girl had abdominal distention and visited our hospital. She had a multilocular cyst with some protuberance on the inside and high values of CA 19-9 and CA-125. We diagnosed her with a left MCA and performed a left oophorectomy. The tumor was the stage IA borderline malignant MCA and weighed 11.8 kg. Five years have passed, the patient has not experienced recurrence or metastasis. The resection of giant tumors can affect respiration and circulation. However, pre- or intra-operative drainage may lead to dissemination and adhesion. When we treat pediatric giant ovarian epithelial tumors, we must understand the findings that suggest the possibility of malignancy to decide appropriately as to whether drainage should be performed. Full article
363 KiB  
Case Report
Amiodarone-Induced Thyrotoxicosis in a Pediatric Patient: A Rare and Demanding Clinical Case
by Sofia Oliveira, Bernardo Marques, Sérgio Laranjo and Lurdes Lopes
Pediatr. Rep. 2019, 11(3), 8166; https://doi.org/10.4081/pr.2019.8166 - 24 Sep 2019
Cited by 1 | Viewed by 671
Abstract
Thyroid dysfunction is one of the most common adverse effects of amiodarone therapy, ranging from subclinical changes to overt clinical thyrotoxicosis (AIT) and/or hypothyroidism. Due to its heterogeneity, AIT lasts as a defiant entity, leading to a thorny treatment course, particularly in pediatrics. [...] Read more.
Thyroid dysfunction is one of the most common adverse effects of amiodarone therapy, ranging from subclinical changes to overt clinical thyrotoxicosis (AIT) and/or hypothyroidism. Due to its heterogeneity, AIT lasts as a defiant entity, leading to a thorny treatment course, particularly in pediatrics. AIT can be classified as either type 1, type 2 or mixed form based on its pathophysiology. Differentiating between the main AIT subtypes is quite relevant, since there is specific treatment for both, however, this distinction may be difficult in clinical practice. We describe a rare case of AIT in a pediatric patient, with an uncommon congenital cardiac malformation, that started amiodarone therapy due to paroxysmal supraventricular tachycardia. AIT was reported 26 months after drug onset, with a sudden and explosive emerging. This case highlights the current AIT management challenges on the highdemanding pediatric field pursuing, ultimately, an enhanced patient´'s care. Full article
360 KiB  
Article
The Impact of Medical Clowns Exposure over Postoperative Pain and Anxiety in Children and Caregivers: An Israeli Experience
by Nitza Newman, Slava Kogan, Moshe Stavsky, Shay Pintov and Yotam Lior
Pediatr. Rep. 2019, 11(3), 8165; https://doi.org/10.4081/pr.2019.8165 - 24 Sep 2019
Cited by 15 | Viewed by 1131
Abstract
While postoperative pain management was shown to reduce unwanted physiological and emotional outcomes, pediatric postoperative pain management remains suboptimal. Medical-clowns were shown to be beneficial in many medical contexts including reduction of stress, anxiety and pain. This study was set to assess the [...] Read more.
While postoperative pain management was shown to reduce unwanted physiological and emotional outcomes, pediatric postoperative pain management remains suboptimal. Medical-clowns were shown to be beneficial in many medical contexts including reduction of stress, anxiety and pain. This study was set to assess the effectiveness of medical-clowns on pediatric postoperative pain reduction. Children age 4 or above, planned for elective hernia repair surgery were recruited. Children were randomly divided to a control or medicalclown escorted groups. Demographical and clinical data were collected using questionnaires and electronic sheets. Children escorted by clowns reported lower levels of pain upon admittance, discharge and 12-hours post-surgery. Statistically significant reduction of parental distress and significantly higher serum cortisol levels were observed in the clown-therapy group. Although small, our study supports the possibility that preoperative medical-clown therapy might be a cheap, safe and yet beneficial method for postoperative pain reduction. Full article
359 KiB  
Case Report
Giant Melanocytic Nevi and Soft Tissue Undergrowth in the Left Leg: Pathogenetic Hypothesis
by Piero Pavone, Raffaele Falsaperla, Silvia Marino, Martino Ruggieri, Andrea D. Praticò and Beatrice Nardone
Pediatr. Rep. 2019, 11(3), 8184; https://doi.org/10.4081/pr.2019.8184 - 20 Jun 2019
Cited by 3 | Viewed by 614
Abstract
Congenital melanocytic nevi (CMN) are observed frequently in children. The anomalous skin shows a widely variable clinical expression not only in the anatomic location, but also in color, morphology and superficial structure. According to the width CMN are distinguished in small, medium, large [...] Read more.
Congenital melanocytic nevi (CMN) are observed frequently in children. The anomalous skin shows a widely variable clinical expression not only in the anatomic location, but also in color, morphology and superficial structure. According to the width CMN are distinguished in small, medium, large or giant. Aside the cosmetic problem and its psychological implications, CMN may present with severe complications consisting of malignant transformation and/or central nervous system involvement. We report on a 3-month old infant with an extensive CMN in the left leg, which extended from the lower portion of the knee to the foot, with satellite nevi. Concomitant with the extensive nevi in the same district a remarkable reduction in size was present, and involved the adipose and muscle tissues, contributing to a counterpart diameter difference of 5 cm, without bone involvement. Melanocytic nevi and soft tissue undergrowth in the leg is a usual association; a pathogenic explanation on the anomaly involving concomitantly the skin and the underneath soft tissues is advanced. Full article
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