14^th International Conference on Clinical Pediatrics June 14-16, 2018 Rome, Italy

M Hussein has completed his MD from Cairo University, Kasralainy and doing his Postdoctoral studies currently from Cairo University School of Medicine. He is Lecturer and Consultant at Obstetrics and Gynecology Department, Cairo university Hospital. He has published six papers in reputed international journals and has participated in oral presentations in 10 international conferences.

Background: Neonatal genital prolapse is a rare condition occurring at birth or the first few days after birth. It is commonly associated with neurological abnormality.

 

Objective & Methods: A full term, 3100 g female baby was born by elective C section delivery to a 25 years old, gravid 2 mother. Her obstetric history was unremarkable except for the baby having mild hydrocephalus and meningocele (discovered by ultrasound during antenatal care). The baby had a red mass protruding from the vulva since birth. On examination, the meningocele was ruptured and was repaired under anesthesia. After careful examination of the uterovaginal prolapse, manual reduction using vaginal plug made of gauze soaked with Betadine was done. Expulsion of the gauze was prevented using adhesive plaster tape at the labia. Vaginal packing was done at regular intervals. Follow-up at 6 months has revealed no further episodes of recurrence. Further follow-up visits have been scheduled.

 

Conclusion: Neonatal genital prolapse in absence of neurological defects is rare. Once the diagnosis has been made conservative manual reduction is an adequate treatment with good results.

Shefaly Shorey is an Assistant Professor at Alice Lee Centre for Nursing Studies, National University of Singapore. Her research areas focus on family and women health as well as nursing education. She has designed psychosocial and educational interventions for varied group of populations. She has conducted both quantitative (e.g. randomized controlled trials, descriptive quantitative studies) and qualitative (e.g. descriptive qualitative) studies. Her research studies involve national and international collaborations. Her research focus is on enhancing health outcomes, quality of care and students’ satisfaction in nursing education. She has received various awards for her academic and research excellence. She has been invited at various conferences and the findings of her research have been presented in national, regional and international conferences. She has published in high impact factor journals.

Aim: The aim of this project was to design, develop and test an M-Health App for the new parents in the early postpartum period.

 

Methodology: The randomized controlled trial, two-group, pre-test and post-test design was used. The study had two phases. The phase-I of the study examined parental needs and development of the Mobile-Health App according to their needs. The Phase-II of the study tested the intervention among 250 parents. The parents were randomly assigned to the intervention (n=126) or control (n=124) groups. The intervention group received the mobile-health application based educational programme on top of routine care while the control group received routine care only. For Phase-II the parental self-efficacy, social support, postnatal depression, and parenting satisfaction were measured using reliable and valid instruments. A linear mixed-method analysis was used to compare the percentage change of all outcome variables from the baseline to four weeks postpartum between groups. At the end of four weeks, 17 parents who used the App were interviewed which was audiorecorded to collect their views especially related to the strengths, weaknesses and areas of improvements of the App. Data were analysed using SPSS software and thematic analysis.

 

Results: The intervention group had significant improvements of parental self-efficacy, social support, and parenting satisfaction at four weeks postpartum when compared with the control group. Postnatal depression scores did not show a significant improvement when compared to the control group.

 

Conclusions: The mobile-health application was effective in improving parental self-efficacy, social support, and parenting  satisfaction, and hence, should be introduced and carried out in routine care by nurses. Further studies should focus on evaluating the effects of this programme in reducing postnatal depression among parents.

Tona Gillen is a Registered Nurse, a Registered Sick Children Nurse (RSCN) and Registered General Nurse (RGN) with Grad Cert Paediatric Nursing (Emergency) with thirty years clinical practice, almost exclusively in critical care areas, and dedicated specifically to paediatrics for more than two decades. She currently work as the Trauma Nurse Manager at the only paediatric Major Trauma Centre (hospital) in Brisbane, Qld. Australia. This hospital serves children not only in Queensland but also in Northern New South Wales and the Pacific Rim. She is an Ambassador of Kidsafe and she has been a coordinator of Emergency Management of Severe Trauma (EMST/ ATLS) since 2007, with the Royal Australasian College of Surgeons (RACS).

History tells us that intentional injury is not a new phenomenon, the terminology may have evolved over time, but intentional injury persists in the twenty first century. There are cutaneous subtle signs and obvious “red flag” signs plus injury constellations that require further investigation – these are discussed in this presentation. Having a high index of suspicion for intentional injury in conjunction with specifically developed tools such as the TEN-4 rule, will enable both attention to detail and objectivity in this regard. It is important to make appropriate referrals, adhere to mandatory requirements, facilitate investigations; treat clinical needs and assist with the safe disposition of the child. The impact that intentional injury may have on the child and the vicarious impact on the clinicians involved is acknowledged.

Isil Inan Erdogan has got her MD degree from Hacettepe University in Ankara, Turkey in 2010. She has completed her elective in King’s College London School of Medicine, Cardiology Department at St. Thomas’s Hospital in August, 2008. She started her Pediatrics Residency in Hacettepe University in 2012 and will become a Specialist in a few months’ time. She has been to Showa University Pediatrics Department in Tokyo, Japan for four months as an Observer/Researcher in 2016 and joined both clinical and research studies.

One of the most serious complications of anorexia nervosa, which is an important cause of physical and physiological morbidity in the adolescent age group, is its effect on bone density. Osteopenia or low bone mineral density (BMD) is the precursor of osteoporosis and it is found in at least one bone area in about fifty percent of anorexia nervosa patients. Since serious bone density deficit can be observed early after the initiation of the disease, determination of the correlation between BMD and genetic polymorphisms in anorexia nervosa cases can provide an opportunity for early identification of cases under greater risk and also earlier implications of necessary precautions for osteopenia. This study was performed at Hacettepe University Ä°hsan DoÄŸramacı Children Hospital Adolescents Medicine Clinic from April 2015-March 2017. Forty five  adolescents were diagnosed with anorexia nervosa between years 2009 2016, in accordance with the DSM-IV-5 criteria, within the age of 10 to 18 comprised the case group, and 46 age and sex matched healthy adolescents were the control group. Vitamin D (VDR Bsml ve VDR Fokl) and estrogen receptor (ESR1Xbal, ESR1Pvull) polymorphisms were studied for each group. BMD values of the case group were classified as low and normal, and polymorphisms were compared between these two groups. No statistically significant result could be found between polymorphisms and femur and lumbar bone density (g/cm2) and Z scores in the anorexia nervosa group. However, in female patients, a positive effect of bb genotype of VDR BsmI polymorphism on femur Z scores (p=0.103) and Ff genotype of VDR FokI polymorphism on vertebra Z scores (p=0.097) was observed. Similarly, in female patients, the existence of bb genotype of VDR BsmI polymorphism was found to have a positive effect on femur bone density when measured in terms of g/cm2 although it could not be shown statistically, (p=0.073). Different than the analysis performed with Z score, a positive effect of Ff genotype of VDR FokI polymorphism could not be found on the vertebra bone density on female patients. However, in male patients, a positive effect of Ff genotype on vertebra bone density in terms of g/ cm2 was observed (p=0.061). The effects of body mass index (BMI), duration of disease and amenorrhea on BMD were studied and an opposite relation between vertebra BMD and duration of illness and amenorrhea, and a positive relation between femur BMD and BMI was found to be statistically significant in female cases. In conclusion, vitamin D receptor gene polymorphisms BsmI bb genotype has positive effects on femur bone density, whereas FokI Fff genotype has positive effects on vertebra bone density. Statistically significant results of the effect of polymorphisms may be obtained when a larger case group is involved.

Azadeh Shojaei is working in Department of Medical Genetics and Molecular Biology. She is a Faculty of Medicine in Iran University of Medical Sciences, Tehran, Iran. She has published 5-7 papers in publication.

Background: Nephrotic syndrome is one of the most common kidney diseases in childhood. About 20% of children are steroid-resistant NS (SRNS) which progress to end-stage renal disease (ESRD). More than 53 genes are associated with SRNS which represent the genetic heterogeneity of SRNS. This study was aimed to screen disease causing mutations within NPHS1 and NPHS2 and evaluate new potential variants in other genes.

 

Method: In first phase of study, 25 patients with SRNS were analyzed for NPHS1 (exon 2, 26) and all exons of NPHS2 genes by Sanger sequencing. In the second phase, whole exome sequencing was performed on 10 patients with no mutations in NPHS1 and NPHS2.

 

Result: WES analysis revealed a novel mutation in FAT1 (c.10570C>A; Q3524K). We identified 4 pathogenic mutations, located in exon 4 and 5 of NPHS2 gene in 20% of patients (V180M, P118L, R168C and Leu156Phe). Also our study has contributed to the descriptions of previously known pathogenic mutations across WT1 (R205C) and SMARCAL1 (R764Q) and a novel polymorphism in CRB2.

 

Conclusion: Our study concludes that mutations of exon 4 and 5 NPHS2 gene are common in Iranian and some other ethnic groups. We suggest conducting WES after NPHS2 screening and further comprehensive studies to identify the most common genes in the development of SRNS, which might help in clinical impact on management in patients with SRNS.

 

 

Background: As early diagnosis of childhood tuberculous meningitis (TBM) cannot rely on mycobacterial confirmation, clinical, CSF and neuroimaging features are essential. We aimed to describe the evolution of serially-analyzed lumbar CSF parameters.

 

Methods: We performed a retrospective observational study including children <13 years with suspected TBM, prospectively enrolled in several research studies at Tygerberg Hospital, Cape Town, South Africa, over a 30-year period. Demographic and clinical data were analyzed, as well as CSF parameters at admission, week 1, 2 and 3.

 

Results: Of 318 children with suspected TBM, 53 (17%) had definite TBM and 265 (83%) probable TBM. Serial CSF analysis from admission to 3 weeks post-admission showed decrease in mean lymphocyte count (143 to 49/μL), neutrophil count (53 to 9/μL), protein concentration (3.29 to 1.85 g/L), and rise in mean glucose concentration (1.89 to 2.72 mmol/L). Longitudinal clustering revealed three distinct profiles, with 1 group atypically demonstrating initial increase in lymphocyte count, neutrophil count and protein concentration. The decreasing CSF glucose trend remained uniform amongst all groups. Conclusion: Serial lumbar CSF in TBM suspects may demonstrate different trends over time. A gradual decline in CSF lymphocyte, neutrophil and protein count, and rise in CSF glucose concentration is expected, however normal variability exists.

Matteo Sulpasso graduated in Medicine and Surgery from the University of Verona in 1984, where he also obtained his authorization to practice. In 1989 he specialized in Paediatric Surgery at the University of Verona with highest grade and cum laude. In 1995 he specialized in General Surgery at the University of Verona with highest grade and cum laude. Since 1st April 2001 he has been working at the Pederzoli Hospital in Peschiera del Garda (Verona, Italy) as the Head of the Paediatric Surgery Unit. In October 1997 he attended the Laparoscopy Surgery Unit at the Paediatric Surgery Clinic of the University of Madrid (Spain). From 1996 to 2001 he was the Head of the Paediatric Surgery Consultancy Service at the Paediatric Division of Borgo Trento Hospital in Verona. In September 1990 he won the competition as Assisting Doctor at the Paediatric Surgery Clinic of the University of Verona, where he worked until March 2001. In April 1990 he won the competition as Resident Doctor in Paediatric Surgery at the University of Verona. In 1988 he was appointed as Doctor Assistant at the Paediatric Surgery Clinic of the University of Marseilles (France). From 1984 to 1990 he was Visiting Doctor of the Paediatric Surgery Unit at the University of Verona.

Andrological disorders in paediatric age are important: they may cause serious repercussions on normal fecundity and sometimes ease cancer outbreak if not properly and adequately treated. Andrological disorders in paediatric age are: frequently observed disorders; less frequently observed disorders and; rare observed disorders. Frequently observed disorders are cryptorchidism, left-sided varicocele, communicating hydrocele and funicular cyst, inguinal hernia, phimosis and hypospadias. Less frequently observed disorders are epididymitis, testicular torsion, microlithiasis, Leydig cells hyperplasia and gynecomastia. Rare observed disorders are gonadal cancer, hypogonadism and ambiguous genitalia. The first cause of male infertility is left-sided varicocele; the second is cryptorchidism. Prevention plays a fundamental role: if these disorders are diagnosed and treated precociously, the risk of infertility is considerably reduced. The authors suggest a new prevention model based on an andrological form to be included in the periodical medical examination by the family paediatrician. If the paediatrician detects an andrological disorder during periodical checks, he/she should refer the patient to the paediatric andrologist or paediatric surgeon. The andrological form consists of 11 sections to be filled by the family paediatrician (postnatal, at 6 months, at 1, 5, 10, 11, 12, 13 years and at the age of 14 for the last andrological checks before addressing the patient to the general doctor). The first section consists of the patient's records, weight and height included; second: patient's pubertal development; third: testicular volume according to Prader; forth: testicular position; fifth section: the presence of varicocele; sixth: penis disorders (phimosis, hypospadias, balano-preputial adhesions); seventh: gynecomastia (mono or bilateral and level); eight: occurrence of other associated genito urinary disorders; ninth: previous andrological surgery interventions; tenth: previous medical therapies and; eleventh: sport practicing. The andrological form should be filled at the following ages: 6 months (testicular position, hypospadias, peritoneo-vaginal duct disorders); 1 year old (testicular position, hypospadias, peritoneo-vaginal duct disorders); 5 years old (phimosis, balano preputial adhesions, peritoneo-vaginal duct disorders); 10 years old (pubertal development, left-sided varicocele, gynecomastia); at 11, 12, 13 and 14 years old (left-sided varicocele, pubertal development, gynecomastia). The periodic compilation of the andrological form, therefore, allows a precocious identification and treatment of these disorders and male infertility prevention.

Yasuo Imanishi graduated from Kagawa Medical School (MD), Japan. He has completed his PhD from Osaka City University, and Postdoctoral Fellowships from Massachusetts General Hospital in Harvard Medical School and University of Connecticut Health Center. He is an Associate Professor of Osaka City University Graduate School of Medicine. His major interests are calcium and phosphate homeostasis in the clinical filed of osteoporosis, rickets & osteomalacia, and chronic kidney disease-mineral and bone disorder (CKD-MBD).

Socioeconomic status (SES) factors such as employment, educational attainment, income, and marital status can affect the health and well-being of the general population and have been associated with the prevalence of chronic kidney disease (CKD). However, no studies to date in Japan have reported on the prognosis of patients with CKD with respect to SES. This study aimed to investigate the influences of employment and education level on mortality and hospitalization among maintenance hemodialysis (HD) patients in Japan. Data on 7974 HD patients enrolled in DOPPS phases 1–4 (1999–2011) in Japan were analyzed. Cox regression modeled the association between employment and both mortality and hospitalization among patients <60 years old. The association between education and outcomes was also assessed. The association between patient characteristics and employment among patients <60 years old was assessed using logistic regression. During a median follow-up of 24.9 months, 10% of patients died and 43% of patients had an inpatient hospitalization. Unemployment was associated with mortality and hospitalization. Compared to patients who graduated from university, patients with less than a high school (HS) education and patients who graduated HS with some college tend to have elevated mortality but were not at  risk for increased hospitalizations. Employment and education status were inversely associated with mortality in patients on maintenance HD in Japan. Employment but not education was also inversely associated with hospitalizations. After adjustment for comorbidities, the associations with clinical outcomes tended to be stronger for employment than education status.

Ronish Gupta is a Pediatric Intensive Care Specialist in Ontario, Canada. He has completed additional fellowship training in simulation and medical education, and is currently enrolled in the Masters of Education in the Health Professions program at Johns Hopkins University. He has published and presented on the topic of scholarly activity as it relates to resident selection, and has experience participating in pediatric resident selection process.

Increasing numbers of medical students are participating in scholarly work, and taking research years, prior to their residency applications. This may be interpreted as an attempt to improve their skills in analyzing and contributing to scientific literature, however the most commonly cited reason is to increase chances of residency match success. This motivation, however, appears to be unfounded as a recent analysis of Canadian Pediatric residency programs revealed no association between the possession of publication, graduate degrees, or scientific presentations and match success. In addition, the possession of publications as a medical student is not associated with residency performance, both overall and within the scholar role. On the contrary, pediatric residents with publications prior to residency are more likely to publish as residents, and presumably, pursue academic careers. Accordingly, the importance of the widespread promotion or dismissal of academia within a specialty such as pediatrics remains unclear. The purpose of this presentation will be to review the latest literature pertaining to scholarly activities as a predictor of pediatric resident performance, and to engage the audience in a discussion about their usefulness and/or merits. In addition, the group will discuss potential strategies to convey these ideas to medical students, in order to promote a healthy, meaningful engagement in scholarly work prior to residency.

 

Community dental health coordinators (CDHC) are dental professionals who fill an important role of interacting with populations who are at risk for dental disease, and do not know how to access a dental care program, or stop tooth decay at the very start. CDHCs can perform clinical preventive services and community-based outreach duties but also help families know which dental services are needed, how to schedule appointments and arranging transportation for those appointments. CDHC trained individuals can manage behaviors that frequently accompany dental treatment such as fear and anxiety. By carefully explaining how dental disease begins and the various ways to treat it, parents gain understanding of their important role in safeguarding their child’s oral health. CDHCs address upstream determinants of poverty to assist clinicians in oral health integration within a child’s overall treatment plan. CDHC also encourage regular oral health services for special populations such as pregnant women, teething infants, and diabetics. Family centered optimal oral health helps build healthy populations! The audience will understand the value of this program, developed by the American Dental Association in 2007, to their quality clinical outcomes, how this program could begin in their area, the online educational modules necessary to complete this program and the key aspects of dental case management to reduce untreated dental disease in their communities.

Hassan Saeiahan is a Medical Genetics Master’s student in Iran University of Medical Science, Tehran, Iran. He has the honor of 1st grade and highest GPA in the field of Animal Biology (BSc) and obtained Silver medal at National Biology Olympiad 2017. He also got 9th rank in cellular and molecular biology master’s entrance exam. He has also done several researches about natural drugs and drug side effects and published a book and several papers at renowned journals.

Introduction: Maple syrup urine disease (MSUD) is a rare inborn error of metabolism of branched-chain amino acid metabolism. The disease prevalence is higher in populations with the higher rate of consanguineous marriage like Iran (38.6%). Different mutations have been previously reported in BCKDHA, BCKDHB, DBT and DLD is known to be responsible for MSUD phenotype.

 

Materials & Methods: In this study, two sets of multiplex polymorphic STR (short tandem repeat) markers linked to the abovementioned genes were used in homozygosity mapping in order to find probable pathogenic changes in 40 studied families. The families which showed homozygous haplotypes for BCKDHA, BCKDHB and DBT genes were subsequently sequenced.

 

Results: Our findings revealed that exon 2, 4 and 6 of BCKDHA gene contained most of the mutations which were novel. The changes include one reported point mutation (c.890G>A (p. R297H)), 7 nucleotide insertion (c.355 356 Ins 7nt (p. D355Dfs)) and a splice site mutation (c.288G>A). In BCKDHB gene we identified one reported (c.853 C>T (p. R285X)) and two novel point mutations [(c.599 C>T (p. P200L), c.484 A>G (p. N162D)]. In DBT gene we found novel homozygote deletion of exon 5,6 and 7 in one patient as well as a point mutation and deletion (c.363delCT/ c.1238T>C).

 

Conclusion: Computational approaches were used to analyze these novel mutations in terms of their impact on protein structure. Computational structural modeling indicated that these mutations might affect structural stability and multimeric assembly of branched-chain keto acid dehydrogenase complex (BCKDC).