Summary :
⁣The IDUA gene (MIM 252800) provides instructions for producing alpha-Liduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene have been found to cause mucopolysaccharidosis type I (MPS I) (MIM 607014). This leads to the accumulation of GAGs within lysosomes causing many different organs and tissues to be dysfunctional. Deleted IDUA gene has not been reported in literatures which showed to be associated with severe phenotype in our proband case.


About Author :
⁣Nuha Alzaabi is Metabolic genetic physician working currently in Fujairah Hospital. She has finished her MBBS from UAE university. Then She joined Pediatric Arab board residency program in Fujairah Hospital and finished in 2015. She Had also MRCPCH. In 2015, she joined biochemical genetic fellowship in United Arab University and finished in 2018. Currently she is working as metabolic genetic consultant in Fujairah hospital in UAE and as a program director for pediatric Arab board residency program.

Summary :
⁣The face is the center of our organism, responsible for communication, feeding, breathing, and the development of different senses. In the baby, it is essential to the satisfaction of the oral phase, swallowing, speech, hearing, eye contact, and establishing a relationship with the environment around us. Each day it becomes more frequent to use ventilation masks from an early age for reasons related to the development and maintenance of life in many children. Masks are an essential instrument capable of saving lives at certain critical times and allowing it to be maintained at other times. The use of masks requires a lengthy application time, which results in forces with possible harmful effects on the structures involved. The younger the child, the more bones and tissues are deformable by external stimuli. This means that whenever any force is applied to the skull bones, a reaction to that force is expected, so the design of the masks should be adapted to each face whenever possible and have support at more rigid and less deformable points to prevent deformities, taking into account the place where the type of force operates, direction and intensity, in addition to the time of action of the force. Any deformity can result in organ dysfunction, interfere with development, sleep, and learning, and have huge repercussions on the whole family’s life. A pediatric dentist is an essential element in the medical team that follows these patients and should always identify, prevent, and intercepts these problems to achieve proper development.


About Author :
⁣Degree in Medicine in 1991. Postgraduation in Orthodontics at the European Orthodontics Centre (1988), Postgraduation in Patients with Neurological Deviations at Fundación Sonnenschein (1997), Postgraduation in - Patient Management with Intravenous Sedation and Nitrogen Protoxide Sedation in General Dentistry (New York, 1998), and Postgraduation in Orthodontics (New York University, 2000). Ph.D. in Pediatric Dentistry and Orthodontics in 2000. Currently, he is the Director of the Specialization Program in Pediatric Dentistry at FMDUP (180 ECTS). Developing P2LINK Project with Lisbon Baby Lab– Fundação para a ciência e tecnologia.

Summary :
⁣Overt and subclinical maternal infections in pregnancy can have multiple and significant pathological consequences for the developing fetus, leading to acute perinatal complications and/or chronic disease throughout postnatal life. The current concept of pregnancy as a state of systemic immunosuppression seems oversimplified and outdated. In pregnancy the maternal immune system undergoes complex changes to establish and maintain tolerance to the fetus while still protecting from pathogens. In addition to downregulated maternal immunity, hormonal changes, and mechanical adaptation make the pregnant woman more susceptible to respiratory pathogens, such as influenza virus, respiratory syncytial virus (RSV), and severe acute respiratory syndrome coronavirus-2 (SARSCoV- 2). Depending on the infectious agent and timing of the infection during gestation, fetal pathology can range from mild to severe, and even fatal. Influenza is associated with a higher risk of morbidity and mortality in pregnant women than in the general population, and, especially during the third trimester of pregnancy, mothers are at increased risk of hospitalization for acute cardiopulmonary illness, while their babies show higher risk of complications such as prematurity, respiratory and neurological illness, congenital anomalies, and admission to neonatal intensive care.


About Author :
⁣MD, Pediatrician, PhD, University Resercher at Pediatric Unit, Dept of Human and Pediatric Pathology “Gaetano Barresi”, University of Messina, Messina, Italy. She took National habilitation (ASN) as Full Professor in Pediatrics; National habilitation (ASN) as Associate Professor in Pediatrics; PhD in “Biotechnology in Medicine and Surgery”, University of Messina, Messina, Sicily, Italy; Doctor Europeaus in “Biotechnology in Medicine and Surgery”, University of Messina, Messina, Sicily, Italy. Her research experience is focused on pulmonology and allergology in the paediatric population.

Summary :
⁣Electroencephalography (EEG) remains the most important investigative modality in the diagnostic evaluation of individuals with encephalopathy. Children living with encephalopathies in the developing world are faced with challenges of lack of access to appropriate diagnostic evaluation and a high risk of misdiagnosis and inappropriate therapy. We appraised EEG studies in a cohort of libyan children with encepahlopathies seen in a tertiary center in order to evaluate access to and the impact of EEG in the diagnostic evaluation of the cases.


About Author :
⁣Saeed H. Ali, Assistant Professor, Faculty of Medicine , Tobruk University, Tobruk, Libya

Summary :
⁣Expand the testing of sensorimotor influences on infant speech perception to a novel phoneme contrast and beyond segmental phonology, including prosodic distinctions (> perception of word stress and intonation contrasts); Offer the first study on whether infants spontaneously move their tongue when listening to speech; Measure the relation between later language outcomes and the impact of sensorimotor influences on early speech perception; Design and test a pacifiershaped device that may be amply used in clinical populations to improve oral morphology, and that is validated from the auditory-motor perspective as not restricting perceptual abilities; Assess the benefits of the device both for oral morphology and language development through a longitudinal intervention study with infants with Down Syndrome. A series of studies of sensorimotor influences in typically developing 6- montholds. Combining cross-sectional and longitudinal designs, experimental online measures of auditory processing, tongue shape/movement, parental reports, and language assessment tools, and a longitudinal intervention study. The project will be presented in general form, and his preliminary results depending on the work done until the conference.


About Author :
⁣Degree in Medicine in 1991. Postgraduation in Orthodontics at the European Orthodontics Centre (1988), Postgraduation in Patients with Neurological Deviations at Fundación Sonnenschein (1997), Postgraduation in - Patient Management with Intravenous Sedation and Nitrogen Protoxide Sedation in General Dentistry (New York, 1998), and Postgraduation in Orthodontics (New York University, 2000). Ph.D. in Pediatric Dentistry and Orthodontics in 2000. Currently, he is the Director of the Specialization Program in Pediatric Dentistry at FMDUP (180 ECTS). Developing P2LINK Project with Lisbon Baby Lab– Fundação para a ciência e tecnologia.

Summary :
⁣Kawasaki disease, since its first description in the 60s of the 20th century, has always been of particular interest to pediatricians around the world, due to the ploimorphism of the clinical picture, unpredictable course and possible complications in the form of coronaritis, aneurysms of the coronary arteries and the possibility of an early debut of the lesion. hearts. Your attention is given to the case of Kawasaki disease in a 4-year-old girl. The child was transfused intravenous immunoglobulin once at a dose of 2 g/kg, after which the child received acetylsalicylic acid at a dose of 85 mg/kg/day (80-100 mg/kg/day). Against the background of ongoing treatment, there was a disappearance of fever and an unexpectedly rapid decrease in the manifestations of coronaritis - a decrease in the diameter of the coronary arteries, according to ultrasound of the heart. However, the first attempts to reduce the dose of acetylsalicylic acid, after 3 days of a feverfree period, to a maintenance dose of 3-5 mg/ kg/day, led to a relapse of fever. Considering this clinical picture, the child was re-administered acetylsalicylic acid in doses of 85 mg/kg/day, and then a decision was made to gradually reduce the dose of acetylsalicylic acid: 85 mg/kg/day - 50 mg/kg/day-25 mg/kg/day. day-5mg/kg/day. With this appointment, the recurrence of fever was not observed. The child was discharged home in a satisfactory condition. Control ultrasound examination after 2 weeks showed a significant regression of the diameters of the coronary arteries. Continues therapy with acetylsalicylic acid 5 mg / kg / day - an estimated duration of 12 weeks and continues to be regularly monitored by a pediatrician and cardiologist.


About Author :
⁣Dmytro Tokariev received a medical degree at the age of 23 from the Dnepropetrovsk State Medical Academy, Ukraine. He was a neonatologist at the Regional Neonatal Center, Dnipro, Ukraine, medical director of the research company Arensia Exploratory Medicine Ukraine., Kiev, Ukraine, pediatrician in Amel Dental Clinic, Dnipro, Ukraine. Now he is a head of Pediatric Department Children’s and Maternal Hospital named after Prof. M.F. Rudnev, Dnipro, Ukraine. He has publications devoted to the problems of neonatology, pediatrics, clinical genetics, in particular to the problems of CDG. He is the co-author (another author is Alexandr Kulikov) of the medical diagnostic program Neo Genetics (Interactive database including clinical information on more than 2,500 genetic syndromes with an innovative search engine using about 8,000 symptoms

Summary :
⁣In our country, the “Breast Milk Encouragement and Baby-Friendly Health Institutions Program” was started in 1991. This program, proposed by WHO and UNICEF, aims to transform all health institutions into baby-friendly health institutions to support breastfeeding. For this purpose, it is tried to ensure that every baby who comes to the world is introduced to the first breast milk. Many new features of breast milk, which is so miraculous, have been described. When both mother and baby are sick, the number of leukocytes increases 64 times in breast milk. But only baby is sick the number of leukocytes increases 13 times. Lactoferrin, an acute phase reactant, is increased in breast milk before the baby is sick. It is known that the baby gives the information that he will get sick from the mother’s breast with his saliva. It is known that if the baby has the FADS2 gene, s\he has a IQ 6.8 points higher than other children and the enzyme that activates this gene is found in breast milk. Breast milk provides an ideal nutritional feature for the microbiota in our intestines, which is the second brain of our body. Despite so many new features of breast milk, the number of breastfed babies is still not at the desired level. In order to create healthy generations, we must work to increase the number of breastfed babies.


About Author :
⁣As of 2010, I started to work on breast milk and breastfeeding consultancy. As of 2010, I started to work as a field supervisor and trainer of “National Baby-Friendly Health Programs” under the Ministry of Health of Turkiye. For nearly 12 years, I have evaluated many hospitals and primary health care institutions in Turkey with this perspective. For 1.5 years, I have evaluated immigrant health centers in many provinces in Turkey, especially in the south and southeast, in terms of baby-friendly health institutions, and I have provided consultancy services for them to participate in this formation. I supported the writing of the Turkish Ministry of Health’s breast milk breastfeeding counseling book according to the WHO’s baby-friendly health programs guide.

Summary :
⁣Severe allergic asthma in children has a relatively low prevalence among total number of asthma patients. The main goal of the long-term treatment is achieving disease control as defined by the guidelines. Current therapeutic options in allergic asthma include several alternatives that offer the possibility to personalize the treatment in these severe forms. Omalizumab is a monoclonal antibody that binds and inhibits free serum immunoglobulin E. It is the first biological agent that was approved in children with severe allergic asthma. We present a series of patients treated with Omalizumab in the IIIrd Pediatric University Hospital In Cluj-Napoca, Romania over a period of 9 years. The main outcomes that we analyzed are the number an severeity of exacerbations, the presence of symptoms between exacerbations, pulmonary function tests and asthma control test (ACT).


About Author :
⁣Doctoral Degree in Medicine (2001): “Monitoring of treatment with theophylline administered in children with asthma and in prematures with idiopathic apnea by measuring salivary level of the drug”. Lecturer in Pediatrics (2002) at The University of Medicine and Pharmacy “Iuliu Hațieganu”, Dpt. 9, Disc. Pediatric III, Cluj Napoca Overspecialisation in Paediatric Pneumology Competence in “ Special Pulmonary Function Tests” Competence in Pediatric Allergology and Immunology Member of The Pediatric Pneumology Committee of the Ministry of Health (since 2019).

Summary :
⁣A large number of genetically determined diseases have phenotypic manifestations in the form a large number of small anomalies of development, resistant, convulsive syndrome, psychomotor developmental delay syndrome, which can be used in the diagnosis of these diseases, starting from neonatal period. In order to carefully analyze the phenotype was used a specially designed scale - the scale of phenotype analysis (SAF) The use of this scale for additional examination of a newborn made it possible to suspect, and subsequently verify genetically determined diseases in 20% of the examined children. Comprehensive phenotype research can be used to optimize the diagnosis of genetically determined diseases. Careful study of the phenotype allows to diagnose genetically determined conditions, starting from the newborn period. The use of a phenotype assessment scale is available a fairly simple, inexpensive method of diagnosis that does not require additional equipment and special training.


About Author :
⁣Dmytro Tokariev received a medical degree at the age of 23 from the Dnepropetrovsk State Medical Academy, Ukraine. He was a neonatologist at the Regional Neonatal Center, Dnipro, Ukraine, medical director of the research company Arensia Exploratory Medicine Ukraine., Kiev, Ukraine, pediatrician in Amel Dental Clinic, Dnipro, Ukraine. Now he is a head of Pediatric Department Children’s and Maternal Hospital named after Prof. M.F. Rudnev, Dnipro, Ukraine. He has publications devoted to the problems of neonatology, pediatrics, clinical genetics, in particular to the problems of CDG. He is the co-author (another author is Alexandr Kulikov) of the medical diagnostic program Neo Genetics (Interactive database including clinical information on more than 2,500 genetic syndromes with an innovative search engine using about 8,000 symptoms

Summary :
⁣Extravasation is a major problem especially among the pediatric population. Extravasation is defined as infiltration or leakage of an intravenous chemotherapeutic agent into the surrounding tissue which results in local damage.The various types of extravasation causing agents can be Sclerosing,fibrosing agents.Drugs that can cause blisters,ulceration, severe tissue destruction & necrosis. Eg.. Vincristine.or drugs that can cause burning and inflammation.eg.. Dacarbazine. Usually cause extravasation. Two major mechanisms are believed to cause tissue damage,DNA binding vesicant agents (e.g., anthracyclines) Absorbed by local cells in the tissue and bind to DNA,causing cell death.Non DNA binding vesicant agents (e.g., vinca alkaloids)These agents do not bind to cellular DNA.Local tissue damage is more easily neutralized than damage to surrounding tissues. Pediatric nurses play a major role in preventing extravasations occurring and also managing the extravasations on time to prevent complications which even can be fatal.The aim of this presentation is to high light the role of nurses in preventing and managing extravasations in the hospital.


About Author :
⁣Mary Anbarasi Johnson working as a professor and Head in pediatric nursing department ,CMC Vellore.I worked as Clinical Nurse Specialist in PICU for a year and as Assit Professor in USA for two years.I also worked in administration in nursing ,in Saudi Arabia Defence Sector. CMC gave me opportunity to be Master trainer for International Projects like GFATM ,IMNCI at national level aswell national projects like ICMR Infection control ,Child Sexual Abuse Protection ,OSCE by Dr.MGR Medical university aswell Diabetic Educators programme etc. It also gave me opportunity to be examiner or paper setter for various levels of nursing students for 6 universities and inspector for Dr.MGR Medical University .I am very much interested in reviewing articles.I have published in 70 national , international journals and presented in around 30 national and international conferences. I have also contributed for 5 book chapters and is working on publishing a book soon. I have served in CMC Vellore as addl.Deputy Nurisng Superintendent for staff training and quality assurance aswell in CMC Instituitional research board as a member for a term of 4 years.I am reviewer or editorial member or advisory member in more than 50 international journals.I am also a reciepient of President”s Gold medal for standing first in the university for Bsc.N programme .I give all thanks to Lord Jesus Christ who is the reason for my living.I am indepted to my family ,teahcers and friends for their encouragement and support and particularly to CMC Vellore which has mentored me.