Biography:

Claire Kendal Wright has completed her PhD from The Open University, UK in Neuropathology and Post-doctoral studies from Imperial College London and The University of Hawaii in Neuroscience and Reproductive Biology, respectively. She is now an Assistant Professor at Chaminade University of Honolulu, and the John A Burns School of Medicine where her research program focuses on understanding the normal and pathological mechanisms of human fetal membrane weakening.

Abstract:

Infection accounts for over 40% of preterm premature rupture of the fetal membranes (PPROM), a major cause of preterm birth. Toll-like receptors (TLR) play key roles in pathogen surveillance in many tissues but their expression and function in amnion mesenchymal cells (AMC) is unknown. The aims of this study were to determine the expression of all TLR isoforms and the effect of macrophage-activating lipoprotein-2 (MALP-2) on human AMC. AMC were isolated from normal, term, amnion at repeat caesarean section. Semi-quantitative RT-PCR, immunocytochemistry, immunohistochemistry and western blotting were used to detect TLR isoform expression. Immunocytochemistry of NF-κB p65, pro-inflammatory cytokine secretion (ELISA), MTT assay, LDH assay, immunoblotting of cytosolic cytochrome c and cleaved caspase-3, and expression of 84 microRNAs by Qiagen miRNA PCR array were used to determine the functional effect of MALP-2 on AMC. TLR1-10 was detected in AMC, and protein expression of TLR2, 4 and 6 were confirmed. MALP-2 induced nuclear translocation of p65, reaching significance after 45 minutes (ANOVA, P<0.05). MALP-2 did not cause apoptosis but did lead to significant secretion of IL-4, IL-6 and IL-8 (P<0.05, 0.01, 0.001, respectively) and significant changes in miRNA-320a and miRNA-18a (P<0.05). These results suggest that AMC elicit a pro-inflammatory response following stimulation with the known TLR2/6 ligand MALP-2. This data supports the idea that AMC express the innate immune system receptors that could help with immune surveillance during infection and contribute to inflammatory responses that lead to PPROM.

Biography:

Shalea Piteau is a Consultant Pediatrician at Quinte Health Care in Belleville Ontario and an Assistant Professor at Queen’s University. She went to Queen’s University and graduated with a Bachelor of Science Honors Degree, and then she did a Master of Science in Physiology at the University of British Columbia. She went to Medical School at UBC and then she completed a Residency in Pediatrics at Queen’s University. During her residency, she was awarded the Physicians Services Incorporated Resident Research Award ($2000) and the Best Resident Research in the Department of Pediatrics in 2010.

Abstract:

Background: Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle fiber. Cap structures consist of disarranged thin filaments with enlarged Z discs. The clinical presentation and natural history of cap myopathy is variable and overlaps with other congenital myopathies.

 Methods: We describe a case of cap myopathy in a 10 year old boy and contrast it with 20 other cases reported in the literature.

Results: Our patient presented at birth with hypotonia and weakness, and subsequently developed respiratory failure in infancy. He is ambulatory but has increasing fatigue requiring a wheelchair by mid-afternoon. His muscle biopsy at 3 months showed a nemaline myopathy and secondary fiber type disproportion with Type 1 hypotrophy and predominance. A repeat muscle biopsy at 6 years showed numerous peripherally located cap-like structures containing nemaline rods and exhibited a spectrum of Z-disk and myofibrillary abnormalities. Molecular genetic testing was performed for NEB, TPM2, TPM3, ACTA1, TNNT1, SEPN1, SMN1, DMPK, FSHMD1A, and mtDNA. A known pathogenic mutation, c.1152+1G>A, and a previously unreported variant, c.1782+4_1782+5delAG, were detected in NEB.

Conclusion: Our patient has a more severe phenotype than the majority of reported cases in the literature and is the first patient with cap myopathy to have a mutation in NEB. Our case supports the identification of cap myopathy as a congenital myopathy with significant overlapping features with nemaline myopathies and further elucidates the phenotype of this disease.

Biography:

Patrick Pladys, MD-PhD, is Head of Pediatrics Department of Rennes University Hospital in France; and is Neonatologist, Expert in signal analysis, neonatal physiology and clinical studies. He is the Leader of the GCS HUGO (Hugoperen) Organization on Health Technology in Pediatrics (HUGOPEREN) in the western part of France. He is also In-charge of the pediatric team of the Research Center for Clinical Investigation of the Rennes University Hospital. He is now In-charge of the Scientific Coordination of the Digi-NewB Project which has received funding from the European Union's Horizon 2020 Research and Innovation Program under Grant Agreement N°689260.

Abstract:

In the EU, more than 200 000 infants are hospitalized each year in a European neonatal care unit during a critical developmental period. During this period, the risk of sepsis is high with a high risk of mortality and many environmental exposures have been shown to impact long-term neurobehavioral outcomes. These observations justify the development new methods to monitor the risk of sepsis, the comfort and the evaluation of cardio-respiratory and sleep/neuro-behavioral development. These methods have to be as non-invasive as possible to preserve the environment of the developing brain. They have also to be useful and usable to make health care more efficient and safer by helping the clinicians and nurses in their decisions. There is an increasing amount of available clinical scores and complex physiologic variables that can be monitored for which the bedside interpretation and integration is not always easy and sometime contributes to the exposition of the nurses to alarm fatigue. A new generation of multi-modal noninvasive monitoring begins to be available based on the creation of composite indices integrating targeted clinical data together with physiological signals (heart rate and respiratory rate variability, movement and sound analysis, oxygen saturation and perfusionindices). These indices have started to be tested in clinical studies with promising results in the fields of late onset sepsis (decrease in late onset sepsis related mortality) with interesting perspectives in evaluation of cardio-respiratory maturation, risk of severe cardiorespiratory events or sleep-wake cycle maturation.

Biography:

Silja T.Griffiths completed her PhD in ‘Functional MRI, structural MRI and school performance in children born extremely preterm’ at the University of Bergen, Norway. She is a paediatrician currently working as a consultant at the paediatric section of neurology, Haukeland University Hospital. As a senior researcher in the Research Group for Paediatric follow-up studies, Bergen, Norway (http://www.uib.no/en/rg/paediatrics) she has been following several cohorts of very preterm and extremely preterm children, and children with prenatal drug exposure.

Eivind Sirnes is a pediatrician. As a PhD-student in the Research Group for Paediatric follow-up studies, Bergen, Norway, he is currently involved in a project investigating possible neurodevelopmetal consequences of prental drug exposure.

Abstract:

During the last three decades, treatment and care for babies born extremely preterm has gone through major positive improvements. As a result of this, preterm children without major sequelae now grow up, go to school and face theirworking career. Being born right in the middle of the brain folding process, myelination and nerve cell network development is bound to influence the developing nervous system. Can we see the changes in cerebral ultrasound or magnetic resonance imaging (MRI) examinations? Functional MRI? School performance? Our research group, The Research Group for Paediatric follow-up studies, is following several cohorts, both national and regional, with focus on short- and long-term outcome of exposures related to fetal and neonatal life. In cohorts of children born very preterm and extremely preterm we have looked at motor development, structural MRI and functional MRI, how preterm children cope with pain, how they cope in school, and how their sleep patterns differ compared to term born control children. Prenatal exposure to maternal substance abuse can also be detrimental to the developing fetal brain. Over the past few decades brain imaging studies have helped improve our understanding on how prenatal drug exposure can impact normal brain development, especially by elucidating the teratogenic effects of alcohol. However, possible long term effects of prenatal opioid exposure remains poorly understood. In a hospital based population of school-aged children with prenatal drug exposure we have investigated associations between prenatalopioid exposure and brain changes detectable by structural and functional MRI.

Biography:

Sean Seeho is an Obstetrician and Post-doctoral Fellow at the University of Sydney. He obtained his PhD from the University of Sydney in 2011. He is currently Co-Head of the Discipline of Obstetrics, Gynecology and Neonatology at the University of Sydney and is active in clinical research.

Abstract:

Background: Early-onset preeclampsia is associated with adverse maternal and perinatal outcomes. For women who consider another pregnancy after one complicated by early-onset preeclampsia, the likelihood of recurrence and the subsequent pregnancy outcome for themselves and their babies are pertinent considerations.

Objectives: To determine the subsequent pregnancy rate after a nulliparous pregnancy complicated by early-onset preeclampsia, and among those who have a subsequent pregnancy, the risk of recurrence by gestational week and adverse pregnancy outcomes.

Study Design: Population-based record linkage cohort study was done. The study population included nulliparous women with a singleton pregnancy and early-onset preeclampsia (<34 weeks) giving birth in New South Wales, Australia, 2001 through 2010 (theindex birth), with follow-up for a subsequent birth through 2012. Early-onset in the index birth was further categorised as <28 weeks versus 28-33 weeks. Subsequent pregnancy outcomes assessed included the pregnancy rate, preeclampsia recurrence, and maternal and perinatal morbidity and mortality. The risk of preeclampsia necessitating delivery at each gestational week for women at risk was plotted and the net gain or loss of gestational age when comparing the index with the subsequent pregnancy was calculated.

Results: Among 361,031 nulliparous women with singleton pregnancies, 1473 (0.4%) had early-onset preeclampsia. Women with early-onset preeclampsia in their first pregnancy had a lower subsequent pregnancy rate (59.7%) than women without preeclampsia (67.7%). Of the 758 women with a subsequent singleton birth, 256 (33.8%) developed preeclampsia in the next pregnancy including 57 (7.5%) with recurrent early-onset preeclampsia. Cumulative rates of preeclampsia in the subsequent pregnancy were higher at every gestation from 23 weeks when the index birth was <28 weeks compared with 28-33 weeks. The cumulative rate and gestationspecific risk of recurrent preeclampsia rose most steeply between 32 and 38 weeks. Most women (94.6%) progressed to a later gestational age in their subsequent pregnancy: The median overall increase in gestational age at delivery was 6 weeks (interquartile range 4 to 8), and among women with recurrent preeclampsia the median increase was 5 weeks (interquartile range 2 to 7). Women with index birth <28 weeks compared with 28-33 weeks were more likely to deliver preterm (38.8% versus 28.7%: Relative risk 1.35; 95% confidence interval 1.04-1.75) and have a perinatal death (4.3% versus 1.2%: Relative risk 3.46; 95% confidence interval 1.15-10.39) at the subsequent birth, but liveborn infants had similar rates of severe morbidity (17.1% versus 15.0%: Relative risk 1.14; 95%confidence interval 0.73-1.79).

Conclusion: Women with early-onset preeclampsia in a first pregnancy appear less likely than women without preeclampsia to have a subsequent pregnancy. Maternal and perinatal outcomes in the subsequent pregnancy are generally better than in the first: Most women will not have recurrent preeclampsia and those who do will usually give birth at a greater gestational age compared to their index birth.

Biography:

Shalini Tripathi has completed her MD Pediatrics from King George’s Medical University, India and Senior Residency in Neonatology from the same institute. She is Assistant Professor in Department of Pediatrics, KGMU, working as a Consultant in Neonatal Intensive Care Unit. She has published more than 15 papers in reputed journals and is also serving as Reviewer of the same.

Abstract:

In order to determine the profile, incidence of acute bilirubin encephalopathy (ABE), risk factors of ABE and outcome of neonates with severe hyperbilirubinemia (a serum bilirubin >20 mg% in first 72 h of life or >25 mg% later), a cohort study was done on 64 neonates (>35 weeks gestation). The primary objective was to find outcome (mortality and development of bilirubin encephalopathyboth acute and chronic), secondary objective was to find risk factors for the development of ABE. Neonates were treated withphototherapy and exchange transfusion as required (AAP2004). Neonates were followed at 1, 3 and 6 months for chronic bilirubin encephalopathy (CBE). Out of the 64 neonates enrolled, causes of jaundice were ABO incompatibility in 41.6%, Rh incompatibility in 25%, cephalhematoma in 3.3% and unknown in 26.6%. Of the 64 neonates, 28 (44%) had ABE on admission itself. Four of these left against medical advice. Of 60 neonates left, 5 (8.3%) expired. A total of 17 (89.5%) neonates of ABE group and 25% of all neonates developed CBE on follow-up. A lower weight on admission (2254.68+417 g vs. 2481.75+369 g; p=0.0195), ABO/Rh incompatibility (odds ratio 4.00; 95% CI: 1.13–14, p=0.030), a positive Coomb's test (odds ratio 5.7; 95% CI: 1.53–21.4, p=0.0096), culture-proven sepsis (odds ratio 16; 95% CI: 0.82–312, p=0.067), normal vaginal delivery (odds ratio 5.5; 95% CI: 1.1–27.4, p=0.037) were significant risk factors for development of ABE. Nearly half of the neonates admitted in a tertiary care NICU with severe hyperbilirubinemia had features of ABE on admission. The risk was more if they had had a lower weight on admission, sepsis, blood group incompatibility with positive Coomb's test and born vaginally.

Biography:

Sue Lamburne has completed her Registered General Nurse Training in 1988. In 1990, she obtained her Special and Intensive Care of the Newborn qualification and has since worked within Neonatal Units in England and Bermuda. She has been a Research Nurse to two multicenter randomized controlled trails, DRIFT and TOBY. She is currently Sister/Team Leader in the NICU at Southmead Hospital, Bristol, UK. She has published articles in peer reviewed journals relating to the care of the newborn.

Abstract:

Nasal CPAP and high flow devices have the potential to cause tissue break down if used incorrectly. In an effort to prevent nasal excoriation/scaring and tissue break down, an assessment tool was implemented within the Neonatal Intensive Care Unit at Southmead Hospital, Bristol, UK. On an hourly basis the infants’ nares are scored and the score is documented on the Infants’ intensive care record chart. This unique visual assessment tool is a simple staging system that when used together with the nCPAP and high flow competency serves as a strategy for prevention and treatment to this iatrogenic and cutaneous event. Following an extensive and scrutinized literature search involving Pub Med and CINHAL this assessment tool has been published in peer reviewed journals relating to the care of the neonate. The author is currently assisting other managed neonatal networks in the England in implementing this tool through presentations at conferences and attending individual neonatal units to support senior nurses in implementing this work. The author has recently presented this assessment tool at an international conference in the Philadelphia, USA.

Biography:

Dipali Shah is a Consultant Pediatrician at West Middlesex University Hospital, UK. She is a Pediatric Assessment Unit Lead. Her interest is Under-graduate and Postgraduate education, training and teaching. She is working as a Consultant since November 2013. She has also worked as a Quality Improvement Fellow. She has done four poster presentations.

Abstract:

Background: Legius syndrome is autosomal dominant and caused by mutations in the SPRED1 gene. Clinical manifestations include multiple cafe-au-lait spots, axillary/inguinal freckling and a degree of macrocephaly, without the non-pigmentary signs of neurofibromatosis type 1 (NF1). Learning disabilities, developmental delay and ADHD are known. It is a rare disorder (fewer than200 individuals with a confirmed diagnosis), and difficult to differentiate from NF1 in early childhood. This is important in terms of prognosis and monitoring. We describe a case in a 13 month old boy.

Case: A 13 month old boy was referred by the GP with a one day history of a dilated right pupil on a background of a viral URTI for which parents were giving nasal decongestant spray. His neonatal, developmental and past medical history was unremarkable. His head circumference was on 99.6th centile. The eye signs resolved spontaneously, thought to be due to the nasal spray. On assessment he was noted to have multiple cafe-au-lait spots >5 mm in diameter. Cafe-au-lait spots were also noted on his mother and brother. The rest of his clinical examination was unremarkable. Baseline bloods including metabolic screen as well as MRI brain were normal. His initial neurofibromatosis type 1 analysis was negative. He went on to have further genetic screening which revealed ‘heterozygous for SPRED1 c.229A>T’, confirming a diagnosis of Legius syndrome.

Conclusion: This is a rare disorder and difficult to differentiate from NF1, highlighting the importance of  identifying more affected individuals to better delineate the clinical picture and course.

Biography:

Dipali Shah is a Consultant Pediatrician at West Middlesex University Hospital, UK. She is a Pediatric Assessment Unit Lead. Her interest is Under-graduate and Postgraduate education, training and teaching. She is working as a Consultant since November 2013. She has also worked as a Quality Improvement Fellow. She has done four poster presentations.

Abstract:

Background: Legius syndrome is autosomal dominant and caused by mutations in the SPRED1 gene. Clinical manifestations include multiple cafe-au-lait spots, axillary/inguinal freckling and a degree of macrocephaly, without the non-pigmentary signs of neurofibromatosis type 1 (NF1). Learning disabilities, developmental delay and ADHD are known. It is a rare disorder (fewer than200 individuals with a confirmed diagnosis), and difficult to differentiate from NF1 in early childhood. This is important in terms of prognosis and monitoring. We describe a case in a 13 month old boy.

Case: A 13 month old boy was referred by the GP with a one day history of a dilated right pupil on a background of a viral URTI for which parents were giving nasal decongestant spray. His neonatal, developmental and past medical history was unremarkable. His head circumference was on 99.6th centile. The eye signs resolved spontaneously, thought to be due to the nasal spray. On assessment he was noted to have multiple cafe-au-lait spots >5 mm in diameter. Cafe-au-lait spots were also noted on his mother and brother. The rest of his clinical examination was unremarkable. Baseline bloods including metabolic screen as well as MRI brain were normal. His initial neurofibromatosis type 1 analysis was negative. He went on to have further genetic screening which revealed ‘heterozygous for SPRED1 c.229A>T’, confirming a diagnosis of Legius syndrome.

Conclusion: This is a rare disorder and difficult to differentiate from NF1, highlighting the importance of  identifying more affected individuals to better delineate the clinical picture and course.

Biography:

Emily Brockbank is currently a Foundation Year 2 Doctor in Wales Deanery. she has worked in Pediatrics for more than a decade and presented numerous papers in international conferences. Her clinical interest is in Neonatology and is very keen on advocating evidence based neonatology and providing child and family centered care

Abstract:

Background: Prolonged jaundice (PJ) is a common presentation in pediatric units. The National Institute of Health and Care Excellence (NICE) recommend routine urine culture for infants with prolonged jaundice. However, research suggests that screening for UTI’s is unnecessary due to the low incidence of cases. We aimed to assess the need for urine culture in well infants with prolonged jaundice.

Method: We performed a retrospective study of all PJ screening in our Children’s assessment Unit in a District General Hospital from 2011-15. Nurse-led prolonged jaundice screening (PJS) was introduced in 2011. The screening included history and examination with investigations including urine culture as per the proforma. Urine samples were obtained through clean-catch and UTI was defined as the presence of >5×106/l white cells and growth >106/ml of a single organism in the urine.

Results: A total of 191 infants aged 14 days to 73 days had PJS screening. All these infants were thriving and clinically well. The urine culture in 110 infants out of 191 (57.6%) had normal microscopy and showed no growth. Fifty-five (55) infants (28.8%) had mixed growth but no growth on repeat culture. Twenty-six (26) infants (7.8%) had growth of single organism, most commonly E. coli (10) followed by Enterococcus (5) but only two infants had positive microscopy. Two (2) infants showed positive microscopy and grew E.coli on repeat testing and were treated as UTI (1% of all PJ screen). The remaining 24 infants did not present with any further episodes of UTI during the study period. All of the infants were clinically well and no other pathological causes of PJ were identified.

Conclusion: Our study of 191 infants presenting with PJ shows only 1% had positive urine culture.We recommend that testing for UTI should be reconsidered when screening well infants with prolonged jaundice in the UK.

Biography:

Shivendra Kishore holds Bachelor’s and Master’s degree in Biochemical Engineering from IIT Delhi. He obtained his PhD from University of Erlangen, Germany in noncoding RNAs involved in genetic abnormalities. Post-PhD, he worked in USA, Germany and Switzerland where he further worked on alternative splicing, transcription, RNA binding proteins, small RNAs and cancer-specific recombination hot spots utilizing single gene models and also high-throughput transcriptome-wide analysis. He subsequently forayed into healthcare consulting where he worked in Basel with a focus on Market Access and Pricing. Since 2013, He heads the Department of New Technologies at Centogene that constitutes the core of R&D activities.

Abstract:

Whole exome and whole genome sequencing allows to probe for multiple genetic conditions in a single step, reducing the time and cost to reach a diagnostic decision. These technologies have also entered the critical care units (including neonatal) where time to diagnosis is extremely important not only to guide treatment decisions and treatment efficacy but also to assess utility ofprocedures like surgery or transplantation. While it is not uncommon to use karyotyping, FISH, aCGH and single gene sequencing in these critical units, the emergence of NGS promises to detect both sequence variants with copy number variants within a single test, making the whole procedure significantly more effective in a clinical setting. The majority of the genetic disorders- especially autosomal recessive metabolic diseases or de novo cases- typically appear in the ICU without prior indication. Genetic testing is thus targeting a larger group of patients in the ICU where clinical features of the diseases will be more prominent than before birth or start the first time after delivery. This is particularly of importance, when one is screening for complex neuromuscular disorders or metabolic abnormalities where more than one gene can be involved. CentoICUTM offers a targeted panel based solution for early and fast diagnosis of critically ill newborns and children under 24 months. In thecurrent format, this panel screens for several hundreds of diseases in less than 4-7 days.

Biography:

Andre Ricardo Araujo da Silva has completed his PhD from FIOCRUZ-National Institute of Infectology, Brazil. He is the Coordinator of Scientific Program of Medicine Course-Federal Fluminense University (UFF), Brazil and leads the Laboratory of Teaching of Prevention and Control of Healthcare-Associated Infections. He has published more than 15 papers in reputed journals and is a Member of International Federation of Infection Control.

Abstract:

There are many formal guidelines about infection prevention and control (IPC) published by national policy committees,professional societies and expert groups, focusing mainly on hand hygiene and the prevention of device-related healthcareassociated infections (HAIs). Although guidelines as stand-alone are insufficient to prevent healthcare-associated infections (HAI), such documents are useful to inform local implementation of evidence-based measures. Guidelines should incorporate up-to-date evidence from a systematic review including assessing the quality of the identified studies, and recommendations by an expert committee taking into account the levels of evidence and applicability. However, many guidelines suffer from lack of transparency and inconsistent application of strengths of evidence. International infection prevention (IPC) guidelines provide standardized recommendations for healthcare-associated infection (HAI) prevention in adults, but often lack specific information about neonates and children. We reviewed 10 international IPC/HAI guidelines to identify pediatric-specific recommendations for HAI prevention. Hand hygiene, bloodstream infection, ventilator-associated pneumonia, environmental control and outbreak management were frequently reported with recommendations applicable to children and newborns, but documents on catheter-associated urinary tract infection, surgical site infection and antibiotic stewardship were lacking.