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  • ISSN: 2373-9312
    A Novel Mutation in the L1CAM Gene: A Tale of Two Brothers
    Authors: Samuel Levi, Leina Alrabadi, Preeti Singh, Angela Flores* and Vijay Tonk
    Abstract: L1 syndrome encompasses a spectrum of conditions that includes a common clinical finding of congenital hydrocephalus and X-linked inheritance. L1CAM is the only gene implicated in this condition. Approximately 247 different mutations have been reported in 300 families.
    Proptosis is a Pediatric Dilemma
    Authors: Altonbary Y, Mansour AK, Sarhan M, Alwakeel AA, Abdelmabood S, Elmahdi HS and Darwish A
    Abstract: Childhood proptosis is quite different from that of the adult. While thyroid orbitopathy is the most common cause in adults, proptosis among children can be caused by: infection, inflammation, vascular and developmental malformation and finally malignancies.
    Latest Articles
    Research Article
    Khulud Y Qutub*, Elaf M Aljafri, Elaf A AlHusaini, Fatimah M Bahathiq, and Ibrahim Al-Harbi
    Our study aims to assess the differences between MIS-C and KD in the context of the COVID-19 pandemic. The authors personalized assessment of the relationship between the two circumstances is presented in the presentreview. A critical examination of the published clinical results was done and the differences between MIS-C and KD in the context of the COVID-19 pandemic were analyzed and presented. There is a clear relationship between COVID-19 infection and the development of MIS-C. The number of children with KD and COVID-19 who have MIS-C is significantly higher, and it is linked to increased incidence of cardiac ailments as well as a higher rate of pediatric intensive carehospitalization. A lot of clinical and laboratory results pertain tocellular phenotypic data. Antibody data suggests that KD and MIS-C have slightly comparable but largely distinct markers.
    Tichasvika Mwoyofiri*, Kusum J Nathoo, and Gwendoline Q Kandawasvika
    Objective: To describe the clinical profile, mortality and short term outcomes of children hospitalised with acute seizures at two tertiary hospitals in Harare, Zimbabwe.
    Methods: A hospital based, cross-sectional study conducted among children aged 6 months to 12 years admitted with acute seizures at two tertiary hospitals in Harare, Zimbabwe. Children with known epileptic seizures were excluded. Demographics, clinical presentation, possible cause of acute seizures and short term outcome were recorded.
    Results: A total of 191 children were recruited during the period April to October 2017 of whom 116 (60.7%), were males. Seizures were more common in younger children (6-59 months), than in older children (5-12 years). One hundred and seventy-two (90.1%), had generalized seizures and 19 (9.9%) had focal seizures. Febrile seizures occurred in 113 (59.2%), of the study participants, with respiratory tract infections as the most common cause of fever. Malaria was the second commonest diagnosis in 21 (11%), of whom 20 (95.2%), presented with generalized seizures. The presence of fever (85.7%), or focal seizure (32.1%), was independently associated with the development of status epilepticus. Clinical meningitis (9.4%), and status epilepticus (14.7%), were independently associated with mortality.
    Conclusion: Seizures were more common in younger children (6-59 months), than in older children (5-12 years). Febrile seizures were the most common cause of acute seizures. The presence of fever or focal seizure was independently associated with the development of status epilepticus. Children with meningitis and status epilepticus were more likely to die, therefore it is very important to prevent and treat meningitis and seizures early and appropriately.
    Mamdoh M. Meqdam*, Malak I. Abusamha, Khadija F. Maho, Ayat M. Gogazeh, Mustafa Ababneh, Samer FM Swedan, Muhamad Ali K Shakhatreh, and Ziad Bataineh
    Objectives: To detect the prevalence of enteric viruses and to investigate the association between the infection and the clinical data collected from patients.
    Methods: Fecal samples collected between September 2019 and August 2020 from 239 Jordanian children aged less than 15 years hospitalized with acute gastroenteritis (AGE), were screened for enteric viruses by polymerase chain reaction (PCR) and reverse transcriptase- polymerase chain reaction (RT-PCR).
    Results: A total of 34 out of 239 (14.2%) fecal samples resulted positive for at least one enteric viruses. Viruses detected were rotavirus A (11, 4.6%), astrovirus (9, 3.8%), norovirus (5, 2.1%), adenovirus 40, adenovirus 41, and human bocavirus, each with 3(1.3%) positive samples. Aichivirus, sapovirus, klassevirus, and salivirus A were not detected in any sample. A statistically significant association (P<0.05) was observed between female gender and astrovirus (17.6% females vs. 8.8% males). There was no significant association between gender and other viruses. The group having the highest infection rate was 0-1-year-old patients (8.4%) followed by 2-4 years (4.2%). Most viral cases were detected in the winter (38.5%) followed by autumn (35.5%) without recording cases in the spring. Significant associations were seen between the presence of rotavirus and dehydration (P= 0.00001) and vomiting (P = 0.004), and between norovirus and weakness (P = 0.047). The average duration of symptoms was 2-3 days in 25% of the cases. Among the infected patients, 25% were under antibiotic treatment.
    Conclusion: Detecting enteric viruses in patients with AGE will aid in the effective care of patients and the development of viral gastroenteritis control measures in the country.
    Review Article
    Mariana Ramos Schinke*, Letcia Oliveira Martins, Allana Goetten, Camilla Siqueira Gomes, Jos Lucas Carneiro, and Marina Hideko Kinoshita Assahide
    Introduction: With the advent of the SARS-CoV-19 pandemic in late 2019, several cases of virus-related myocarditis are emerging. In regard to the pediatric population, such cases were related to the MIS-C, which usually manifested about three weeks after viral infection. In this literature review article, we aim to summarize the relation between a coronavirus infection and myocardial involvement in childhood, its prevalence and clinical follow-up.
    Methodology: A non-systematic review was carried out focusing on the myocarditis, COVID and Multisystem inflammatory syndrome in children, an overview of epidemiology, identification and management. The research was made from classic books of literature as well as recent articles from the last year. The online databases (Google Scholar, Medline, PubMed and Scielo) were consulted using terms such as covid, coronavirus, SARS-CoV-2, myocarditis, multisystem inflammatory syndrome and Kawasaki like. This article discusses the myocarditis, the definition, etiologies, epidemiology, clinical characteristics, diagnostic, complications and Association between COVID-19 and myocarditis.
    Final considerations: It is necessary to understand that the diagnosis of myocarditis is a challenge due to its nonspecific and highly variable clinical manifestations. However, it is essential that the clinician be able to suspect and diagnose myocarditis early, in order to avoid progression to irreversible complications and high mortality. Finally, it is concluded that additional studies are necessary for a better understanding of the pathophysiology involving the new coronavirus and myocyte injury, as well as further clarification regarding the therapeutic approach for the affected children.
    Research Article
    Drali O*, Bounihi A, Benani S, Chaib A, Izountar S, Koceir AE, and Berrah H
    Cystic fibrosis is the most common genetic disease in children of transmission, autosomal recessive. The nutritional status is a major clinical element of monitoring, prognosis and management, with this in mind, we carried out this study in order to evaluate the dietary behavior of children with cystic fibrosis , to describe their quantitative and qualitative calorie intake in macro and micronutrients and to compare their nutritional status with normal children of the same age through a case-control study involving 30 children aged 2 to 16 years (10 with cystic fibrosis and 20 control children). The study took place between February 1 and May 31, 2019.
    Results: Of the 10 patients interviewed, there are 6 boys and 4 girls. The average age was 4 years with extremes of 3 months to 12 years. 80% of children with cystic fibrosis were underweight, unsatisfactory observance of the diet was objectified in relation to the recommended nutritional intake. Daily energy intake of cystic fibrosis children was lower than that of normal children. All patients have a low plasma level of HDL ( 0.25 0.05 g / l) and cholesterol (0.98 0.26 g / l) , while the level of Triglycerides ( 0.45 0.23g / l) was within the limit lower. All children with cystic fibrosis regardless of their age have a deficiency in fat-soluble vitamins compared to normal children. All children with cystic fibrosis presented a deficiency in Zinc, Selenium and Magnesium and in Calcium and Sodium. Water intake was insufficient, with averages below standards.
    onclusion: It is imperative to advise patients to take 3 balanced meals per day and a minimum of 2 snacks per day, with high calorie foods. In addition, it is necessary to set up dietary education sessions for better nutritional intake to compensate for dietary errors that can lead to sometimes dreadful consequences.
    Andreas Chiabi*, Walter Pisoh Dobgima, Walters Mbah Achuh, Loveline Lum Niba, Gerald Ngo Teke, Eveline Feuldi, Amandine Pierre Bayokolak and Denis Nsame Nforniwe
    Background: Prematurity is an important cause of neonatal mortality, and is defined as a delivery of a live neonate before 37 completed weeks of pregnancy.
    Aim: To assess the prevalence, risk factors and outcomes of preterm birth at the neonatology unit of the Bamenda Regional Hospital (BRH).
    Methods: This was a 4-years retrospective case-control study carried out from January 2016 to December 2019, including 365 preterm neonates and 365 matched term neonates. Binary logistic regression followed by multivariate logistic regression analysis were used to identify independent risk factors of prematurity.
    Results: The incidence of preterm birth was 18.5%. Multivariate analysis demonstrated that maternal primary and secondary education [Adjusted Odds ratio (AOR) 2.857 95%CI (1.120 7.487), 0.034], preterm premature rupture of membranes (PPROM) [AOR 2.737 95% CI (1.133 6.611), 0.025], and multiple pregnancy [AOR 4.772 95%CI (2.413 9.428), 0.000] were independent predictors of prematurity. Of the 365 preterm neonates included in the study, 39 (10.7%) died in the hospital. The major causes of death were apnoea (65%), neonatal infection (12.5%), and respiratory distress (12.5%).
    Conclusions: Preterm birth is still unacceptably high in the Bamenda Regional Hospital. Prevention in risk groups can go a long way to reduce this prevalence and associated morbidity.
    Lakshmi Muthukrishnan* and Radhika Raman
    Aim: To document the clinical profile and outcome of children below 18 years of age with SARS-CoV-2 infection with relation to pre-existing comorbidities.
    Methods: Prospective, observational study at the Emergency Department of a tertiary care childrens hospital in South India from May 2020 to April 2021. Details regarding demography, clinical presentation, history of contact with positive SARS-CoV-2 patients, preexistingcomorbidities, emergency management, the requirement of intensive care treatment, diagnosis at discharge, and outcome were analyzed for all SARS-CoV-2 positive children who required emergency care.
    Results: A total of 196 children were positive for SARS-CoV-2 and 109 children among them required emergency management. Among them, 19% were infants, 61% were from 1 to 12 years of age and the remaining 19% were adolescents. The Mean age was 6.3 years. There were 23 children (21.1%), with preexisting comorbidities. Fever was the most common presenting complaint in children in both groups. 26.1% of children with comorbidities and 9.3% of children without comorbidities had severe presenting symptoms which was statistically highly significant. The mean duration of stay was 7 days in children with comorbidities 3 days in children without comorbidities which was also statistically significant. 34.7% of children with preexisting comorbidities and 12.7% of previously healthy children required intensive care management. We observed Multisystem Inflammatory Syndrome in Children (MIS-C), only in children without comorbidities (8.2%). Nearly 2/3rd of children with COVID pneumonia required assisted ventilation. Mortality was less than 1% which was attributed to the preexisting malignancy and not because of the severity of SARS-CoV-2 infection.
    Conclusion: SARS-CoV-2 infection in admitted children presents with great clinical variability. Supportive therapy is recommended in the majority of children with SARS- CoV-2 infection. Preexisting comorbidity does not seem to increase the severity of COVID-19, however, we emphasize the importance of emergency management and intensive monitoring for a better prognosis.
    Review Article
    Jaap Doek*, Lothar Krappmann, and Yanghee Lee
    This article illuminates the important role of the Committee on the Rights of the Child in monitoring the progress made and identifying remaining difficulties in the implementation of the Convention on the Rights of the Child (CRC) in each of its 196 States parties, providing them after the examination of their reports with specific recommendations in the Concluding Observations (COs). Furthermore attention will be given to the Days of General Discussion and General Comments, activities developed by the Committee meant to provide all States parties with guidance in their efforts to implement the CRC. The article presents concrete examples of these activities of the Committee regarding the right of the child to the highest attainable standard of health and the right of the child to freedom from all forms of violence. It concludes with some final observations on the role of the Committee during the past 30 years and for the years to come.
    Irina AlmazovGornik*
    Tension headache is a common clinical diagnosis in children suffering from chronic headache, but little known about this condition. We conducted clinical observation of 6100 patients (ages 5-18, citizens of Israel), suffering from Tension Headache and found meningeal symptoms and the whole complex of Meningism in 97% of them. This led us to conclusion that chronic headache in children is a result of damage caused to brain membranes (Dura Mater). Next step was to look for the root cause of the brain membranes damage and we found it to be Streptococcal infection (80% of cases), EpsteinBarr virus (10% of cases), Helicobacter Pylori (2% of cases) and head trauma (8% of cases).
    Review Article
    Durga Prasad DM, and Arpita Bhriguvanshi MD*
    Nutritional issues limit the growth and development in children with cerebral palsy (CP). Impaired nutrition results in malnutrition, growth failure, micronutrients deficiencies, osteopenia, and overall brain development. Various reasons for their poor nutrition may be their lack of communication, inadequate oral intake and gastrointestinal issues. Gastrointestinal issues can be gastroesophageal reflux disease, dysphagia, constipation, motility disorders and fecal evacuation disorders which affects their growth and quality of life. Hence, introduction of an adequate nutritional support and monitoring should always be considered an integral part of their care. Placement of gastrostomy tube and supplementation of various formulas in early stage of management have good impact on health. A multidisciplinary approach involving physicians, nurses, dieticians, occupational and speech therapists, psychologists, and social workers is essential to improve the outcome. Currently, there is a lack of a definite guideline and systematic approach for the care for this vulnerable population. In addition there are issues regarding mode of feeding, enteral nutrition, size of enterostomy tube and selection and availability of different formulas. Hence, the aim of the present review is to discuss a practical approach for the assessment of nutritional status in order to identify individuals at risk for malnutrition to optimize an adequate and personalized nutritional support. The role of enteral feeding, indications, access of feeding and formula selection in this subset of children will also be highlighted.
    Gudisa Bereda*
    Pediatrics are defined as those age groups less than or equal to 18 years including premature. Medication use in children may be accompanied by problems not seen in adults or cause adverse drug reactions that are more common than in adults. The rate of absorption was correlated with age, being much slower in neonates than in older infants and children. In Pediatrics there is not much information, but it has been estimated that from 20 to 50% of children suffer some drug therapy problems during the hospital stay, children, and particularly small children, take considerable amounts of drugs and several studies indicate that drug related problems in children are of great clinical relevance and that many of them are preventable. Depending on the definition of Pharmaceutical Care Network Europe, a drug-related problem can be defined as an undesirable event including drug therapy that actually or potentially interferes with desired health outcomes and needs professional judgment to resolve through careful assessment of patients, medicines, and disease information to determine the appropriateness of each medication regimen. Needs additional drug could occur when a patient needs more medication to treat their condition or Preventive therapy is needed to reduce the risk of developing a new condition or a medical condition requires combination therapy to achieve synergism or additive effect. Unnecessary drug therapy can be characterized as no valid medication indication for the drug at this time or this could occur when the patient has been placed on too many medications for their condition and the drug is simply not needed.
    Case Series
    Mohammed J Aboud*, Shaimaa M Kadhim, Noor M Abudi, Haidar M Joudi, and Zeena M Joudi
    Background: Caudal regression syndrome (CRS), or sacral agenesis (or hypoplasia of the sacrum), is a rare congenital abnormality with an estimated incidence of approximately 0.1-0.25:10,000 of normal pregnancies, resulting from a developmental failure of a segment of the vertebral column and spinal cord. In genetic counseling, most cases of caudal regression are sporadic or associated with maternal diabetes. It is associated with urinary malformations, anorectal malformation with the other associated spectrum of cardiovascular, pulmonary, gastrointestinal, and musculoskeletal abnormalities.
    Aim: We reported our review of the clinical, radiological, management outcome and the family challenges of a series of cases with CRS to obtain a clue and understanding of this co-morbid pathology with its concomitant anomalies.
    Conclusion: The target of this series is to highlight that the complex spectrum of CRS needs to be addressed and shaped for each case because of the variety of anomalies. Parents counseling regarding the expected outcome should be considered. A multidisciplinary approach is a cornerstone, the purpose is not to correct all deformities but decrease the patients long-term morbidity, increase the functionality of everyday life, and thus, survival is the role.
    Langley Sampognaro and Shabih Manzar*
    This brief report describes the methods to monitor postnatal growth in the preterm infants. The report is divided into two sections. Section 1 would address the definitions of extrauterine growth restriction (EUGR), while section 2 would discuss the growth monitoring in small for gestational age (SGA) infants.
    Case Report
    Makanda-Charambira PD*, Chasauka N, and Musorowegomo D
    Background: Acute kidney injury is one of the commonest diseases among newborn babies hospitalized in the neonatal intensive care units. It is potentially preventable and treatable with timely intervention which includes conventional therapy and Kidney Replacement Therapy. However access to dialysis consumables is a challenge in developing countries. International Society of Peritoneal Dialysis has set recommendations to use when standard peritoneal dialysis is not accessible.
    Case diagnosis: A baby born preterm weighing 2100g at 34 weeks with congenital syphilis was admitted in the neonatal intensive care unit for respiratory support and developed anuria after receiving nephrotoxic drugs for 6 days. A diagnosis of acute kidney injury with fluid overload was made.
    Treatment/Results: The baby received peritoneal dialysis using a paediatric central venous catheter and fortified Ringers lactate solution with good outcome.
    Conclusion: Although commercially prepared dialysis solutions and catheters are preferred, where resources do not permit this, locally prepared fluids and improvised catheters may be used with careful observation of sterile preparation procedures and give good patient outcomes.
    Review Article
    Gisele da Silva Peixoto Zandon, Meyrilane Vicente de Laias Moreira, Idalina Cristina Ferrari, Paulo Serra Baruki, Marcio Eduardo de Barros, and Fabio Juliano Negro*
    Objectives: To describe and discuss the experiences and moments lived in a public Pediatric Intensive Care Unit (PICU) in the countryside of Mato Grosso do Sul at the beginning of the COVID 19 pandemic in Brazil; with a view of the pediatric intensive care physiotherapy; describing the challenges generated in face of an adaptive and pandemic environment. As a theoretical reference, Callista Roys Adaptation Theory was used, and occurred in the period from March 2020 to December 2021. The demand for admissions of respiratory causes between the months of May and June 2020 were 8 (7%) admissions/month (year 2020), a low amount if compared to the same period of the previous year 42 admissions (72%) (year 2019); being in these months considered of high prevalence for seasonal infections by respiratory syncytial virus, responsible for the majority of hospitalizations in infants. It was possible to consider that one of the challenges was the need to adapt to the new safety measures, severity of cases, humanization, and personal insecurity due to the difficulties faced by the lack of a trained team and material and human resources; and the assistance challenges due to the lack of protocols, flows, and appropriate management for these patient profiles, making the work routine difficult. Close to two years after the pandemic, it was possible to consider that the unknown became controlled, because the team facing suspected and/or confirmed cases of COVID 19 was better prepared for the confrontation, the experience, courses, and training meetings and continuing education made the environment more capable of adjusting to changes and situations. However, future studies will be necessary to evaluate the post-pandemic stress in health professionals and the seasonality of respiratory viruses.
    Research Article
    Maria Carolina Ferreira*, Cristiano Miranda de Arajo, Izabella Lima de Matos, Maria Raquel Basilio Speri, King Chung, and Maria Fernanda Capoani Garcia Mondelli
    Introduction: Tinnitus is a sound heard without an external sound source. Childhood tinnitus and hearing loss are often underdiagnosed. Therefore, the intervention may be late. The aim of this study was to estimate the prevalence of hearing loss and tinnitus in a sample of school-age-children and to evaluate the association between hearing loss and tinnitus and possible risk factors.
    Methods: This is a clinical study approved by the Research Ethics Committee under protocol 3,449,075. A sample of 282 children from two municipal schools in the cities of Boracia (So Paulo) and Macaba (Rio Grande do Norte) were included in this study. The sample included children from 6-18 years regularly enrolled in municipal schools; and children whose parents/guardians consented to their participation or those that accepted to participate in the study.
    Results: The results showed higher prevalence of unilateral hearing impairment (8.5%) than bilateral hearing impairment. A total of 66.4% of the sample reported presence of tinnitus/noise in the ears. Children who reported using headphones were 1.93 times more likely to have hearing loss in at least one ear.
    Conclusion: The present study found a risk of hearing loss in children who use headphones, but no association between tinnitus and hearing loss was found, nor were children with hearing loss identified by teachers or had poor school performance.
    Ester Goldbalt* and Rivka Felsentein
    Objective: Therapeutic disciplines have specific ethical codes. Codes of ethics provide a framework for ethical behavior. They do not offer specific guidelines for application in particular instances. Children with disabilities are eligible for related services in the educational setting, including services provided by occupational therapists (OT), physical therapists (PT) and speech-language pathologists (SLP). This paper refers to these related service therapists as RSTs. In Israel RSTs include expressive art therapists (EAT). The purpose of the present study was to examine the ethical violations and dilemmas RSTs experience in educational settings.
    Method: Participants were 16 RSTs (six OTs, eight SLPs, and two EATs) working in the special education system. The Israeli Ministry of Education holds annual training courses for RSTs from the health professions (OT, PT, SLP) and EAT. All participants in the present study studied in a training course for health professionals and expressive-arts therapists under the auspices of the Ministry of Education at the Orot Israel College of Education. As part of the training course, participants had to refer in writing to ethical dilemmas and violations they experienced in delivering services for students with disabilities in educational settings. Content analysis was performed in order to document patterns of participants experience of ethical dilemmas and violations arising in the educational system.
    Results: Content analysis yielded five themes related to participants service delivery and role within the educational system: a) inconsistency between students needs and students placement; b) adherence to procedures; c) distortion of diagnosis; d) defaults and unethical demands in the educational setting; and e) the relationship with patients.
    Conclusion: RSTs in educational setting experience unique violations of ethical codes and ethical dilemmas.
    Max D. Schlesinger and Kelly A. Hutcheson*
    Retinopathy of prematurity (ROP) is a disorder of the developing retinal blood vessels in preterm infants of low birth weight, and is a leading cause of childhood blindness, especially in the developing world. With timely screening and intervention, even babies at high risk for developing visual problems can be adequately treated and their vision saved. Evaluation of these fragile babies requires an experienced team, good communication, and excellent record keeping.
    Alona Bin-Nun, Yair Kasirer, Irina Shchors and Cathy Hammerman*
    It has been proposed that necrotizing enterocolitis [NEC] is not one disease, but rather the final common pathway along a clinical spectrum.
    Aim: We aimed to examine the hypothesis that early NEC in extremely low gestational age [ELGA - GA < 28 weeks] neonates constitutes a new category on the NEC spectrum. Classical NEC presents after 2 weeks and peaks at 32 weeks.
    Setting and Design: Retrospective review.
    Results: We identified 16 ELGA infants with early NEC confirmed by pneumatosis and/or pathology. They presented at 7+3 days and 27+2 weeks, well below the classically described NEC. Although seven infants presented with perforations, they were not spontaneous intestinal perforations (SIPS) in that all had clearcut pneumatosis and/or bowel necrosis on pathology. Mortality was 50%.
    Conclusion: We propose that NEC should be viewed as a spectrum disorder and that early NEC in the extreme preterm neonate constitutes a distinct category of NEC along this spectrum with high mortality and different pathophysiology.
    Review Article
    Denise H. Dunn and Michael J. Dochniak*
    In immune-sensitive children, repeated exposure to natural rubber latex (hevea brasiliensis proteins) can cause severe allergic manifestations of atopy, increased expression of neurotrophins, increased immunometabolism, hypoxia, cytokine overexpression, anaphylactic shock, and atypical behavioral/cognitive development. Infant products manufactured with natural rubber latex include pacifiers, bottle nipples, teething toys, and vaccines. This review presents FDA and CDC natural rubber latex guidelines and suggests exclusionary measures to decrease the incidence of maladaptive immunity and allergy-induced regressive autism.
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