Day 3 :
Fukuoka University, Japan
Time : 09:05-09:45
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.
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.
- Pediatric Neurology Pediatric Endocrinology Pediatric Gastroenterology Pediatric Psychology Pediatric Surgery
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 : 11:25-11:50
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.
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.
Sichuan University, China
Title: Risk factors and recent effect on neonatal diseases of different grades histologic chorioamnionitis: a retrospective case control study
Time : 11:50-12:15
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.
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.
University of Uyo, Nigeria
Title: Using a supportive community group process to cope with the trauma of social fragmentation and promote re-socialization in the Bahamas
Time : 12:15-12:40
Dr Uduma Felix Uduma is a Senior Lecturer in University of Uyo, Uyo, Nigeria and Consultant Radiologist in University of Uyo teaching hospital, Uyo Nigeria.
Childhood cerebral hemiatrophy is an uncommon clinical entity. Its aetiologies are diverse, but can generally be grouped into congenital and acquired. The congenital type is intrauterine in origin, while the acquired type occurs early in life, usually before two years of life. When childhood cerebral hemiatrophy occurs, it evokes a spectrum of compensatory calvarial sequlae. These include ipsilateral calvarial thickening, diploe widening, hyper-pneumatization of paranasal sinues/mastoids, elevation of petrous bone and small middle cranial fossa. MRI is very effective in high lighting brain atrophy, associated parenchymal changes and even the above enumerated skull changes. Our two case reports of left hemi-cerebral atrophy in male Cameroonian children seen in our MRI practice aptly demonstrated some of the aforementioned radiological features of childhood cerebral hemiatrophy noted in literature review.
Respira Lab Research Group, Ecuador
Time : 12:40-13:05
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.
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.