Day 1 :
Keynote Forum
Inge Schmitz-Feuerhake
Society for Radiation Protection, Germany
Keynote: The evidence of congenital malformations and Down´s syndrome after Chernobyl: Who cares for radiation protection of the unborn?
Time : 10:00-10:45
Biography:
Inge Schmitz-Feuerhake has completed her Doctorate in Physics at the University of Hannover, Germany in 1966. She did research in Nuclear Medicine for seven years at the Medical University of Hannover where she was also the Manager of a nuclear reactor for research. Since 1973, she is a Professor of Medical Physics at the University of Bremen, Germany, now in the status of retirement. She works in the field of Radiation Dosimetry and Radiation Effects. She has published more than 50 papers in reputed journals.
Abstract:
In former times of radiation research the genetically significant dose was regarded as the main measure for protection in diagnostic radiology, because the hereditary effects were considered to be the most dangerous sequelae and also the effects in embryos and foetuses by exposure in uterus. There was established the 10 days rule in order to exclude exposure in the period of possible pregnancy. The International Commission on Radiological Protection (ICRP), however, who is the leading expert board for radiation protection in the developed countries, claims that the genetic radiation risk is nearly negligible and radiation-induced effects after exposure in uterus will not occur below doses of 100 mSv. They refer to reportedly absent effects in the acute exposed Japanese A-bomb survivors and leave out the conditions in cases of low dose chronical exposure as for example by radioactive contaminations. We review findings about increases of stillbirths, congenital malformations and Down´s syndrome in a variety of European regions affected by Chernobyl fallout. They confirm former and later observations after occupational exposure and diagnostic X-rays, which show high radiation risks for the descendants of exposed parents. Our conclusion is that medical diagnostic radiation exposure in Germany has contributed to the rising rates of congenital malformations in this country. Minimization of gonadal doses must become again a central aim in radiation diagnostics for children and patients in reproductive ages. Current dose limits for occupational exposure and in pregnancy must be lowered considerably.
Keynote Forum
Krzysztof Piotrowski
Pomeranian Medical University, Poland
Keynote: The genetic aspect of human heart development in aspect of prenatal diagnosis
Time : 10:45-11:30
Biography:
Krzysztof Piotrowski is a Specialist in Clinical Genetics and has completed his PhD with dissertation on Fetal Echocardiography. Putting his knowledge into practice, he performs about 3500 Ultrasonography (USG) investigations of gravidas annually for prenatal diagnosis. He has published many scientific papers and chapters covering prenatal diagnosis. Having introduced the BACs-on-BEADs TM technology to polish diagnostics, at present he is focused on applying molecular genetics prenatally. For the last nine years, he was the Manager of Cytogenetic Unit for Pomeranian Medical University, Szczecin, Poland. Since 2012, he has established a new independent genetic centre, DIAGENCo, which includes a cytogenetic and molecular laboratory. For 4 years, he was the Vice President of the Prenatal Diagnosis Section of The Polish Society of Human Genetics. He participates in many investigated programs.
Abstract:
Congenital heart diseases (CHD) are the most common malformations both as an isolated form and a part of genetic syndromes. Extraordinarily fast development of molecular genetics confirms that almost all CHD are genetically dependent in terms of microaberrations in different regions of a chromosome or single gene mutations. On the other hand, CHD are an important component of diverse genetic diseases, including monogenic, metabolic and mitochondrial disorders, most often as secondary cardiomyopathies. The genes participating therein are located nearly on each chromosome, mainly on pathways, along with ligand genes and co-factors, transcription factors or individually. Many mechanisms on heart development are based on the balance between apoptosis, proliferation and migration. Crucial genes controlling fetal development, including the creation of heart tube and the forming of left and right ventricular outflow are primary homeobox genes grouped in 4 clusters HOX1-4. Other genes condition the forming of different structures. The key process for activating consecutive genes is methylation. Methyl groups originate from the metabolic cycle of folic acid, where the main gene is MTHFR. Moreover, in numerous functional disorders, for example the arrhythmia or block, the reason is also genetic, namely the mutation of ion- channel gene placed in 6 chromosomes. Now we over 1500 mutations. Many genes of cardiogenesis were identified thanks to the investigation of other genetic disorders, for example PTPN11 gene in Noonan syndrome. The gene is also responsible for the development of pulmonary valves or TBX5 gene in Holt-Oram syndrome. Presently the most promising method is next-generation sequencing (NGS) technology, where we can perform hundreds of mutations at one time. Heart development is also affected by the imprinting (about 30 genes) and the inactivation of the X chromosome in day 21 stage of embryo. We propose, e.g. a practical classification could refer to specific CHD characteristic of particular disorders, which might prove helpful in daily practice because in prenatal diagnosis CHD is often the sole syndrome confirmed by USG scan, which may depend on truly isolated nature or non-specific mild ultrasound co-markers.
Biography:
Talijancich Kaye has completed her Bachelor of Science in Nursing at Curtin University in 2008. She is currently working as a Registered Nurse (part-time) looking after babies under 28 days in Neonatal Department at Princess Margaret Hospital for Children, Perth, Australia. Her previous paediatric nursing experience includes working in the Emergency Department, Gastroenterology and Immunology Departments at Princess Margaret Hospital for Children. She has also worked for Edith Cowan University as a Paediatric Clinical Facilitator. She has commenced at Perth Paediatrics in 2016. She brings her skills and dedicated passion of working with children to the first multi-specialty private paediatric clinic in Western Australia.
Abstract:
Abstract
Background: Laser tongue tie division is an option suitable for neonates, older children and adults. No general anaesthetic is used, but an analgesic gel is applied. The procedure is very quick, taking only 2 to 3 minutes to perform.
Aim: To assess the outcome of patients who underwent tongue tie division with diode laser at Perth Paediatrics.
Methods: We conducted a retrospective review of the 49 children who underwent laser repair of tongue tie at Perth Paediatrics between 30/01/2017 and 10/7/2017. The age of the children ranged from 4 days to 6 months. We assessed the outcome after 1 to 6 months, with a questionnaire via telephone. Of the 49 children’s mothers telephoned, a total of 41 children were contactable. The outcome was assessed in terms of improvement of breastfeeding comfort to the mother and procedural complications.
Results: The outcome was assessed in terms of improvement in breastfeeding and lack of discomfort. 41 mums had immediate relief, which was rated good to excellent. 3 mums had poor immediate relief but there was improvement after 2 weeks of procedure and was rated good. Only 2 out of 41 mothers reported no relief in improvement in breastfeeding. Furthermore, it was noted that reflux. Symptoms in 3 children decreased post laser treatment and a weight gain increase was noted. There were no immediate or delayed procedural complications in terms of post-operative bleeding, infection, scaring or recurrence.
Conclusion: 95.2% (39/41) of children, who underwent tongue tie division with laser, were reported by their mothers, to have improvement in breastfeeding improvement in terms of latch/leakage. This outcome also included an improvement in the mother’s discomfort i.e., nipple pain, nipple damage and mastitis.
Keynote Forum
Talijancich Kaye
Perth Pediatrics, Australia
Keynote: 11:50-12: 35
Time : 11:50-12: 35
Biography:
Talijancich Kaye has completed her Bachelor of Science in Nursing at Curtin University in 2008. She is currently working as a Registered Nurse (part-time) looking after babies under 28 days in Neonatal Department at Princess Margaret Hospital for Children, Perth, Australia. Her previous paediatric nursing experience includes working in the Emergency Department, Gastroenterology and Immunology Departments at Princess Margaret Hospital for Children. She has also worked for Edith Cowan University as a Paediatric Clinical Facilitator. She has commenced at Perth Paediatrics in 2016. She brings her skills and dedicated passion of working with children to the first multi-specialty private paediatric clinic in Western Australia.
Abstract:
Abstract
Background: Laser tongue tie division is an option suitable for neonates, older children and adults. No general anaesthetic is used, but an analgesic gel is applied. The procedure is very quick, taking only 2 to 3 minutes to perform.
Aim: To assess the outcome of patients who underwent tongue tie division with diode laser at Perth Paediatrics.
Methods: We conducted a retrospective review of the 49 children who underwent laser repair of tongue tie at Perth Paediatrics between 30/01/2017 and 10/7/2017. The age of the children ranged from 4 days to 6 months. We assessed the outcome after 1 to 6 months, with a questionnaire via telephone. Of the 49 children’s mothers telephoned, a total of 41 children were contactable. The outcome was assessed in terms of improvement of breastfeeding comfort to the mother and procedural complications.
Results: The outcome was assessed in terms of improvement in breastfeeding and lack of discomfort. 41 mums had immediate relief, which was rated good to excellent. 3 mums had poor immediate relief but there was improvement after 2 weeks of procedure and was rated good. Only 2 out of 41 mothers reported no relief in improvement in breastfeeding. Furthermore, it was noted that reflux. Symptoms in 3 children decreased post laser treatment and a weight gain increase was noted. There were no immediate or delayed procedural complications in terms of post-operative bleeding, infection, scaring or recurrence.
Conclusion: 95.2% (39/41) of children, who underwent tongue tie division with laser, were reported by their mothers, to have improvement in breastfeeding improvement in terms of latch/leakage. This outcome also included an improvement in the mother’s discomfort i.e., nipple pain, nipple damage and mastitis.
- Pediatrics | Pediatric Genetics| Pediatric Nephrology | Pediatric Endocrinology | Pediatric Cardiology
Location: Gate 1
Chair
Iman Kamel
National Research Center, Egypt
Co-Chair
Walaa Yousef
National Research Centre, Egypt
Session Introduction
Iman Kamel
National Research Center, Egypt
Title: Urine bisphenol-A (BPA) levels in relation to obesity among sample of Egyptian children
Time : 12: 35-13:05
Biography:
Iman Kamel is the Professor of Child and Family Health and Nutrition at the National Research Center. She has completed her MBBCh in 1992 and MSc in 1999 in the Faculty of Medicine at Cairo University and PhD in 2009 at Aim Shams University. Currently, she is a Consultant of Clinical Nutrition and Weight Management. She is the member of the Egyptian and European Societies of Study of Obesity and Clinical Nutrition.
Abstract:
Background & Aim: Bisphenol A (BPA) is a chemical substance used extensively world-wide in the manufacture of plastic polymers. The environmental obesogen hypothesis suggests that early life exposure to endocrine disrupting chemicals such as BPA may increase the risk for weight gain later in childhood. Recent reports stated that infants and children are mostly exposed to BPA due to higher usage of plastic materials for food and drinks packaging and toys. Aim of this study is to find the relation between BPA and obesity among Egyptian children.
Methods: BPA concentrations were measured in randomly collected urine samples of 297 Egyptian children 2-18 years old of different social levels. Weight and height had been measured for all and the BMI had been calculated and correlated to the urinary BPA concentration.
Results: The mean LOG total BPA in obese children (-0.28±0.44 ng/ml) was significantly lower than that in non-obese children (-0.12±0.47 ng/ml) (p=0.047) and the mean LOG of adjusted BPA/gm of creatinine in obese children (2.44±0.53) was significantly lower than that in non-obese children (2.72±0.53) (p=0.004). Also, correlations of total, conjugated, unconjugated and log urinary BPA concentrations/gm of creatinine with indicators of obesity. Only the adjusted log transformed urinary BPA level/gm of creatinine shows highly significant negative correlation with obesity indices including BMI-z score, waist circumference and hip circumference (r=-.257, p=.002; r=-.267, p=.001; and r=-.281, p=.001 respectively). No significant difference could be detected between obese and non-obese children as regard BPA.
Conclusion: Exposure to BPA as measured by total urinary BPA concentration was not a risk factor for obesity.
Walaa Yousef
National Research Center, Egypt
Title: Serum visfatin levels in Egyptian obese adolescents with metabolic syndrome
Biography:
Walaa Yousef is affiliated from National Research Centre, Cairo, Egypt. Her research interest mainly focuses on pediatrics. She published many reputed research papers in the field of pediatrics.
Abstract:
Background & Aim: Adipokines may play a role in the pathogenesis of the metabolic syndrome (MS) in children. Visfatin is an adipokine mainly produced by visceral fat, has not been fully elucidated. The relationships between visfatin and metabolic syndrome are inconsistent. The purpose of this study was to assess the relationship between serum visfatin levels and metabolic syndrome and metabolic components including serum lipids, blood pressure (BP) and anthropometric indices in Egyptian obese adolescents.
Methods: The present study included 100 obese adolescents with MS, aged 17-18 years and 100 non-obese matched for sex and age healthy controls. All patients and controls were subjected to full medical history, clinical examination, anthropometric measurements, insulin resistance determined by homeostasis model assessment of insulin resistance (HOMA-IR), serum lipids and BP investigations. Serum visfatin was assessed by enzyme linked immunosorbent assay (ELISA). Pearson’s correlation analysis was used to assess association between the studied parameters. The efficacy of visfatin in distinguishing MS versus controls was assessed by using logistic regression and receiver operating characteristic (ROC) analyses.
Results: Significantly higher visfatin level was observed in obese cases than controls. Significant positive correlations of visfatin concentrations with obesity indices, serum lipids, SBP and DBP levels were observed. Logistic regression showed that odds ratio (OR) for MS as predicted by serum visfatin was 1.16 (95% CI: 1.14–1.92, P=0.01) and the area under curve (AUC) was 0.78.
Conclusion: Serum visfatin might be used as predictor for MS in obese adolescents.
Krzysztof Piotrowski
Pomeranian Medical University, Poland
Title: The genetic background of human neural tube development in the aspect of prenatal diagnosis
Biography:
Krzysztof Piotrowski, a specialist In Obstetrics, Gynecology and Clinical genetics, completed his PhD with a dissertation on fetal echocardiography. Putting his knowledge into practice, he performs about 3,000 USG investigations of gravidas annually for prenatal diagnosis. He has published many scientific papers and chapters covering prenatal diagnosis. Having introduced the BACs-on-BEADs TM technology to Polish diagnostics, at present he is focused on applying molecular genetics prenatally. For the last nine years he was the Manager of Cytogenetic Unit for Pomeranian Medical University, Szczecin, Poland. Lately, he has established a new independent genetic centre, DIAGEN. Speaker on numerous congresses all over the world. He participates in many local and international investigated programs.
Abstract:
Congenital neural tube defects (NTD) are common malformations both as an isolated form and a part of genetic syndromes. Extraordinarily fast development of molecular genetics confirms that almost all NTD are genetically dependent in terms of aberrations in different regions of a chromosome or single gene mutations. On the other hand, NTD are an important component of diverse genetic diseases, including monogenic and metabolic disorders with mutations (often called polymorphism) genes responsible for the condition of the MTHFR gene. The genes participating therein are located nearly on each chromosome, mainly on pathways, along with ligand genes and co-factors, transcription factors or individually. Many mechanisms on NT development are based on the balance between apoptosis, proliferation and migration. Crucial genes controlling fetal development, including the creation of neural tube and the forming of vertebral continuity are primary homeobox genes grouped in 4 clusters HOX1-4. Other genes condition the forming of different structures. The most important pathways are Shh, Wnt, FGF, Notch, and BMP. These pathways are closely connected with other structures of the body, like conus heart, thymus, intestinal tract, skin or sympathetic nervous system. The most complicated is closing of column. On the one hand, this process does not depend on one but on numerous genes, especially Pax3 and Pax7 and on the other hand, it depends on proper work mainly of folic acid path, as well as vitamin B12 and choline. Neural development is also affected by the imprinting (about 30 genes) and the inactivation of the X chromosome in day 21st of embryo development. In our daily prenatal practice we are able to find specific NTD as soon as 12th week of gestation but our target is to confirm if NTD may be of truly isolated nature or non-specific mild ultrasound co-markers. As you can see above, we have a lot of information and we can prevent many open NTD, but still affected children are born. It means that our knowledge about it is not yet complete. Presently, we have some possibilities to help the baby in uterus to close peripheral open NT if it’s not too big and has isolated nature.
Biography:
Benslimane Hammou has completed his MD from Oran School of Medicine. Currently, he works as a Pediatric Surgeon at Children Hospital of Oran, Algeria, in Pediatric Urology department. He published many of the research articles which are related to urethral problems in children.
Abstract:
Introduction: Disorders of Sex Development (DSD) is affecting 1 in 10,000 births. Current management is very heterogeneous because of the low volume of patients for Persistent Mullerian duct syndrome. The persistence syndrome of Mullerian derivatives (PMDS) is a rare form of abnormalities of sex development. The persistence of Mullerian derivatives can be seen as Persistent Mullerian duct syndrome (PMDS): intraoperative diagnosis in case of cure of a hernia in a boy normally virilized with the discovery of a fallopian duct or a uterus when opening the hernia sac during a laparoscopy, the treatment of a nonpalpable testicle. The treatment is surgical and some author recommends dissection to separate the vas mullerian duct , orchidopexy and mullerian duct excision . This treatment is done by laparoscopy and is consist of a longitudinal section of the uterus and the cervix to allow lowering each testicle by an internal pathway within the umbilical artery and preserving the testicular vasculature.
Patients & Methods: Four patients admitted in our department of pediatric urology for Persistent Mullerian duct syndrome from 2015-2017.
After laboratory and radiology work-up ,laparoscopy exploration is indicated in all cases.
Our option is done by laparoscopy and will consist of a longitudinal section of the uterus,and the cervix to allow lowering each testicle in the corresponding hemi-scrotum by a internal pathway within the umbilical artery and preserving the testicular vasculature and the Vas. This is our attitude towards the PMDS syndrome.
Results: One case diagnosis of PMDS either inguinal hernia repair, one case either urethrocystoscopy for utero hydronephrosis bilateral, one non palpable testis in two cases.
Conclusion: Laparoscopy is best way for PMDS diagnosis. Division of Mullerian duct is a safe way to do orchidopexy without damage of the vas.
Nikhil Bansal,
Gaba Hospital, India
Title: Rare association of congenital diaphragmatic hernia with meconium pseudocyst
Biography:
Nikhil Bansal has completed his Post-graduation in Pediatrics. He is a Consultant and Head of Pediatrics at Gaba Hospital. He is managing neonatal and pediatric ICU.
Abstract:
Congenital diaphragmatic hernia (CDH) has an incidence of 1-6 per 10,000 live births. Infants with congenital diaphragmatic hernia (CDH) have an increased incidence of associated malformations like craniofacial abnormalities, skeletal defects, cardiac defects, ileal, atresia, volvulus, or malrotation of gut but not meconium pseudocyst. Meconium peritonitis caused by meconium extruding into the peritoneal cavity through a small bowel perforation in utero. The estimated prevalence is about 1 per 35,000 live births and the mortality ranges from 11% to 50%. Meconium peritonitis with pseudo cyst formation is rare and can be lethal. Meconium pseudocyst has not yet been previously described in association with CDH. This report describes the rare case of a meconium pseudocyst, with congenital diaphragmatic hernia (left side). We believe this is a first case in literature with combination of two defects in a same child.
Karen Kavanaugh
Children’s Hospital of Wisconsin, USA
Title: Exploring attitudes, perceptions and coping from the perspective of families at risk of extremely preterm delivery
Biography:
Karen Kavanaugh is currently the Senior Nurse Scientist at Children’s Hospital of Wisconsin and Professor Emerita at University of Illinois at Chicago. She has more than 30 years of research experience with parents facing serious conditions with their newborn. Her contributions to improving perinatal palliative and end-of-life care have had a broad impact nationally through her scholarship, leadership in national and regional initiatives and mentoring of clinicians and researchers. She has conducted nine NIH funded studies, authored more than 85 publications, and served as Guest Editor for several journal issues dedicated to perinatal palliative and end-of-life care.
Abstract:
The majority of periviable neonates (i.e., born between 22 and 24 weeks gestation) die or suffer moderate to severe disability. Parents and physicians are faced with the unique and unfortunate challenge to make ‘end-of-life decisions’ (EOL) at the very beginning of life. Unfortunately, little is currently known about parent’s goals of care-particularly their attitudes, perceptions and coping mechanisms related to the death or long-term disability that may result from periviable birth. Our study aims to: utilize qualitative methodologies to prospectively assess attitudes, perceptions and coping mechanisms related to death and disability from the perspective of pregnant women, fathers, or important others when making decisions concerning periviable delivery; obtain preliminary quantitative data to assess the relationships between coping responses utilized by pregnant women and their partners or support persons, decision conflict, decision satisfaction and mental health status following periviable birth; and compare the attitudes, perceptions and coping mechanisms related to death and disability across racially and ethnically diverse populations. We are recruiting 30 women admitted with a pregnancy complication that poses the threat of or need for periviable delivery, along with the woman’s partner and/or other important support person. Interviews are being conducted with participants at two time points over a three-month period. Using validated scales, we are quantitatively assessing coping responses, decision quality and post-decisional mental health outcomes. To date we have recruited 25 women and 12 partners and conducted 56 interviews. Data collection will be completed and analysis begun by May 2018.
Gregory Landon
St. Mary’s Hospital, UK
Title: Establishing a teaching programme for medical students delivered by junior doctors: a quality improvement project
Biography:
Gregory Landon has completed his MBBS at St George’s University of London and a Certificate in Learning and Teaching at Queen Mary University of London. He is a Specialist Trainee in Pediatrics in the London Deanery. His interests include Medical Education and Quality Improvement.
Abstract:
Aim: To establish a formal teaching programme delivered by junior doctors, teaching medical students on placement in the paediatrics department of a district general hospital in London, by using plan do study act (PDSA) cycles.
Method: A lesson plan was devised to teach the chosen topic (newborn baby check). The teaching session was delivered by paediatric senior house officers to medical students on rotation in the paediatrics department. Feedback (quantative and qualitative) was sought after each session, from both the students and teachers. Ideas for improvements to the lesson plan were generated based on feedback from previous sessions. The teaching session was then run again with the next group of medical students, following the amended lesson plan. A total of seven PDSA cycles were run, with different junior doctors contributing to different teaching sessions.
Results: An average of five medical students attended each teaching session. Quantitative feedback was sought across three domains, using a Likert scale 1-9. The first session’s mean score was 8.6 in appropriateness to learning needs, 8.6 in quality of teaching and 8.8 in level of interaction. Scores improved across the cycles in the fifth and sixth sessions, maximum scores of 9.0 were achieved in all 3 domains. In the seventh cycle, mean scores fell to 8.75 across all domains.
Discussion: By acting on feedback from both students and teachers, the lesson plan was improved over the first few PDSA cycles. Not all changes made resulted in improvement, resulting in lower feedback scores in the seventh cycle.