Day 3 :
Keynote Forum
Shinichi Hirose
Fukuoka University, Japan
Keynote: Application of induced pluripotent stem (iPS) cells in intractable childhood disorders
Time : 09:05-09:45
Biography:
Shinichi Hirose, MD, PhD is a Professor of Pediatrics, Head of both the Department of Pediatrics and the Research Center for Molecular Pathomechanisms of Epilepsy at Fukuoka University, and a member of the standing committee of the International Pediatric Association (IPA). His interests are in the molecular genetics of epilepsies. He has worked extensively on causative mutations and their molecular consequences in the neuroscience mechanisms underlying epilepsies, and has published extensively on the molecular pathomechanisms of epilepsies. He is the principal investigator on numerous clinical studies and has studied many childhood diseases including epilepsies, metabolic diseases, and inherited diseases.
Abstract:
While induced pluripotent stem cells (iPSCs) are generally considered to be used in regenerative medicine, they can also be used to reproduce disease pathophysiology in vitro. This ability to replicate disease pathophysiology using iPSCs may be beneficial for intractable childhood disorders, specifically those involving the central nervous system, such as Dravet Syndrome. Dravet Syndrome, one of the intractable genetic epilepsies affecting children, is caused by mutations of SCN1A, the gene encoding the α1 subunit of Na+ channels in the brain. To understand the pathomechanisms of Dravet Syndrome, we established iPSC lines from a patient harboring a pathological SCN1A mutation and differentiated the iPSCs into neuronal cells. We found, for the first time in humans, that the derived inhibitory GABAergic neurons had impaired action potentials compared to neurons derived from control iPSC lines. This finding is consistent with results from genetically engineered murine models with Scn1a mutations. Thus, the pathomechanisms of Dravet Syndrome can be attributed to dysfunction of the inhibitory interneurons, termed interneuronopathy, due to SCN1A mutations. The discovery of these molecular pathomechanisms aligns with clinical observations that some anti-epileptic drugs that block Na+ channels precipitate seizures in patients with Dravet Syndrome. This new understanding of the pathomechanisms of Dravet Syndrome should open fresh avenues for novel drug development. Additionally, current technologies are able to readily introduce any mutation into iPSCs, which can facilitate high-throughput iPSC screening platforms for new potential drugs that target affected organs, even in rare genetic intractable childhood disorders.
Keynote Forum
Yasser K Rashed
Menoufiya University, Egypt
Keynote: Post-dilatation application of mitomycin-C in children with esophageal strictures
Time : 09:45-10:25
Biography:
Yasser K Rashed is currently an Associate Professor/Consultant of Pediatrics, Pediatric Hepatology, Gastroenterology and GI Endoscopy at National Liver Institute, Menoufiya University, Egypt. He is also a Consultant of Pediatrics, pediatric Hepatology, Gastroenterology and GI Endoscopy, Dubai Hospital, UAE. He has completed his Medical Doctorate degree in Pediatric Hepatology and Master’s degree in Pediatric Hepatology and also Masters in Pediatrics at Menoufiya University, Egypt. He has published many articles in the field of pediatrics, pediatric hepatology, gastroenterology, nutrition and GI endoscopy.
Abstract:
Background: The esophagus is the major site in risk for strictures in the upper gastrointestinal (GI) tract. Narrowing of the alimentary tract in children is almost caused by a benign disorder (e.g., peptic or caustic). Endoscopic management of alimentary strictures based on the ability to gain access to the narrowed segment non-surgically. Clinical responses to the topical application of mitomycin-C in reducing scar formation had been reported.
Aim: To evaluate the methodology, efficacy and side effects of mitomycin-C application in the treatment of esophageal strictures.
Patients & Method: This study included 30 children. Upper GI endoscopy was done until reaching the stenotic area, esophageal dilatation was done and then re-endoscope the patient and mitomycin-C applied topically under direct vision.
Results: The response to mitomycin application was excellent (both clinical and endoscopically) in 28 patients (93.3%) and good (endoscopically only) in 2 patients (6.7%). Mitomycin application resulted in no complications in both studied group.
Conclusion: Esophageal dilatation followed by local mitomycin-C application may be a useful strategy in esophageal strictures especially those refractory to repeated endoscopic dilatation.
Keynote Forum
Yasser K Rashed
Menoufiya University, Egypt
Keynote: Post-dilatation application of mitomycin-C in children with esophageal strictures
Time : 14:05-15:05
Biography:
Yasser K Rashed is currently an Associate Professor/Consultant of Pediatrics, Pediatric Hepatology, Gastroenterology and GI Endoscopy at National Liver Institute, Menoufiya University, Egypt. He is also a Consultant of Pediatrics, pediatric Hepatology, Gastroenterology and GI Endoscopy, Dubai Hospital, UAE. He has completed his Medical Doctorate degree in Pediatric Hepatology and Master’s degree in Pediatric Hepatology and also Masters in Pediatrics at Menoufiya University, Egypt. He has published many articles in the field of pediatrics, pediatric hepatology, gastroenterology, nutrition and GI endoscopy.
Abstract:
Background: The esophagus is the major site in risk for strictures in the upper gastrointestinal (GI) tract. Narrowing of the alimentary tract in children is almost caused by a benign disorder (e.g., peptic or caustic). Endoscopic management of alimentary strictures based on the ability to gain access to the narrowed segment non-surgically. Clinical responses to the topical application of mitomycin-C in reducing scar formation had been reported.
Aim: To evaluate the methodology, efficacy and side effects of mitomycin-C application in the treatment of esophageal strictures.
Patients & Method: This study included 30 children. Upper GI endoscopy was done until reaching the stenotic area, esophageal dilatation was done and then re-endoscope the patient and mitomycin-C applied topically under direct vision.
Results: The response to mitomycin application was excellent (both clinical and endoscopically) in 28 patients (93.3%) and good (endoscopically only) in 2 patients (6.7%). Mitomycin application resulted in no complications in both studied group.
Conclusion: Esophageal dilatation followed by local mitomycin-C application may be a useful strategy in esophageal strictures especially those refractory to repeated endoscopic dilatation.
Session Introduction
Geir Ogrim
Østfold Hospital Trust, Norway
Title: Applying data from quantitative EEG (QEEG) and Event Related Potentials (ERPs) to predict the clinical outcome of stimulant medication in pediatric ADHD
Time : 10:45-11:10
Biography:
Geir Ogrim is a Senior Clinical Neuropsychologist working in a Neuropsychiatric team in Child- and Adolescent Psychiatry at Østfold Hospital Trust, Fredrikstad, Norway, combining research and clinic. His university affiliations are NTNU, Trondheim Norway and Gillberg Neuropsychiatry Centre (GNC), Gothenburg, Sweden. His PhD thesis was on, “Electrophysiology in ADHD: Diagnosis, Predictions and Treatment”. His research focuses on quantitative EEG (QEEG) and event related potentials (ERPs) in combination with neuropsychological tests as methods to be used as supplementary biomarkers in diagnosing developmental disorders and predictions of treatment outcome. He is the Head of the professional board in patient organization ADHD Norge, and a consultant at NevSom – National Resource Centre for Neurodevelopmental Disorders and Hypersomnias.
Abstract:
Millions of children and adolescents worldwide are diagnosed with ADHD and treated with stimulants. About 25% are non-responders (non-REs), and acute side effects are reported in about 30%. In search for EEG based predictors of response we applied WinEEG test procedure (www.mitsar-medical.com) making EEG registrations of 3 minutes eyes closed, 3 minutes eyes opened and a 20 minutes task condition – a cued visual go/no-go task for computing ERPs. In one study 98 ADHD patients completed a 4 weeks medication trial, and were classified as REs or non-REs based on interviews and rating scales from parents and teachers. The study reports QEEG/ERP data that predict clinical response. In another study, a similar procedure was applied to predict acute side effects. In a third study, 87 patients completed a second test on a single dose of stimulants before onset of the 4 weeks trial. The predictive power of single dose changes in ADHD related ERPs and behavioral test variables were studied. Changes in ERP component P3no-go predicted the outcome of the 4 weeks trial with a large effect size (d=1.76). A study combining all data to compute a global prediction index is in progress.
Bao Shan
Sichuan University, China
Title: Risk factors and recent effect on neonatal diseases of different grades histologic chorioamnionitis: a retrospective case control study
Time : 11:10-11:35
Biography:
Bao Shan is a MD student in Sichuan University. Her major is Pediatrics especially on neonatology. She has published several papers in reputed journals, and has done a lot of researches on clinical aspects of neonates.
Abstract:
Background: Chorioamnionitis is thought to be related to neonatal mortality and morbidity, but conflicting results appears in different studies influenced by different definition of chorioamnionitis and study populations. Meanwhile, the effect of different grades of histologic chorioamnionitis on neonatal diseases has not been talked before. Method: A retrospective study was performed, analyzing the neonates who were sent to our neonatal intensive care unit and with a pathologic examination of placenta of their mom between 1st January and 31st December in 2014. Neonates were excluded if there were major malformations or chromosome abnormality. Complications during pregnancy, pathologic examination results of placenta and neonatal outcomes were collected and analyzed. Outcomes: A total number of 253 neonates were included, including 192 preterms (76%) and 61 terms (24%). Mothers who had chorioamnionitis accounted for 83% (209) with grade I 58% (121), grade-II 25% (53) and grade-III 17% (35). Premature rupture of membranes (P<0.001), placenta adhesion(P<0.001), mother infection(P<0.001) and scarred uterus (P<0.05) significantly increased the risk of having chorioamnionitis, while pregnancy induced hypertension, gestational diabetes mellitus, intrahepatic cholestasis of pregnancy and hashimotos thyroiditis did not. Chorioamnionitis did not increase the risk of having intracranial hemorrhage (P=0.602), pneumonia (P=0.612), electrolyte disorder (P=0.965), hypoproteinemia (P=0.347) and retinopathy of prematurity (P=0.310) in infants. Different grades of chorioamnionitis also did not have significant effect on neonatal outcomes. Conclusion: The relevance ratio of chorioamnionitis is dramatically high in pregnancy women and premature rupture of membranes, placenta adhesion, mother infection and scarred uterus significantly increased the risk of this pathological changes. But the current data showed it does not have effect on neonates. More prospective researches are needed to reveal the impacts of chorioamnionitis on infants.
Leonardo Cano Cevallos & Andrea Vélez Vera
Respira Lab Research Group, Ecuador
Title: Rapid progression osteolysis in Gorham Stout Syndrome. A case report and literature review
Time : 12:00-12:25
Biography:
Leonardo Cano Cevallos is an Ecuadorian medical student attending to the last year of medical school at Universidad Católica Santiago de Guayaquil, Ecuador. He is interested on research and has experience as a Teaching Assistant in Hematology for 2 years. He is a part of the research team of Respira Lab Research Group.
Abstract:
Background: Gorham-Stout Syndrome is a rare idiopathic nonmalignant disorder characterized by recurrent, progressive osteolysis. It may affect any bone, but commonly involves mandible, shoulder and pelvic girdle, each in roughly 20% of all the cases. The disease affects one or contiguous bones. Our purpose is to highlight the relevance of an extraordinary progression time in four months of massive osteolysis of the shoulder.
Case Presentation: A 12-year-old-boy is admitted by complete loss of function of the right arm and showing a deformity at level of right clavicle. His history was characterized by progressive weakness and pain on right shoulder 4 months ago. Biopsy results showed numerous congestive capillaries surrounded by fibrous tissue and blood material, also trabecular areas with irregular edges, perivascular inflammation and atrophy signs suggestive of angiomatosis confirmed the diagnosis of the disease.
Conclusion: The time of progression of the disease in a normal pattern is at least one or two years within the beginning of suggestive symptoms. We consider that our case is particularly important, because the progression to total destruction of elements of patient’s shoulder was four months in a young patient.
Paula Francezca C Padua
St. Luke’s Medical Center, Philippines
Title: Venolymphatic malformation with systemic inflammatory response syndrome as a complication: A case report
Time : 14:15-14:40
Biography:
Paula Francezca C Padua, M.D has completed her MD at the age of 27 from St. Luke’s College of Medicine, Quezon City, Philippines, last 2013. She is currently
in her 3rd year residency training at the Department of Otolaryngology, Head and Neck Surgery at St. Luke’s Medical Center, Quezon City Philippines.
Abstract:
Objective: (1) To present a case of venolymphatic malformation and OK-432 as its management
(2) To discuss the mechanism of action of OK-432 in the treatment of venolymphatic malformations
(3) To discuss the known complications of OK-432 in the treatment of venolymphatic malformations
Design: Case Report
Setting: Tertiary Hospital in Metro Manila
Case Report: A 4 year old male, presenting with a right facial and cervicothoracic mass, consulted and given Picibanil (OK-432) as trial treatment for 2 doses. A local inflammatory response was observed after the first dose. However, the patient exhibited a systemic inflammatory response after the 2nd dose.
Conclusion: Venolymphatic malformation is one of the most common types of vascular malformations with an overall prevalence of up to 1% in the general population. Although benign, these lesions have a tendency to grow in an infiltrating manner. OK-432, which is the most widely used alternative treatment, showed promising results of regression of malformations, systemic inflammatory response syndrome may be a possible side effect with its use.