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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
    Ayman H. Jawadi*, Bander S. Alrashedan, Shaker M. Alamir, Ahmad F. Alfaleh, Mohammad Alshehri, and Abdullah Alshahrani
    Background: Early detection of developmental dysplasia of the hip (DDH) will provide an early conservative management and reduce the chance of surgical intervention. Many risk factors of DDH have been identified (family history, breech presentation, being first child, and oligohydramnious).The aim of the study is to assess the risk factors in patients diagnosed with DDH.
    Methods: A retrospective study on DDH patients from January 2007 to December 2013, in two major hospitals. Data was collected from the charts and X-rays were reviewed by pediatric orthopedic staffs.
    Results: Out of 574 DDH patients (832 hips) identified in the study, 515 (89.7%) presented to the clinic at age of more than 3 months. The majority of the affected patients were female (479 [83.5%]). Only 253 patients (44.1%) had an identifiable risk factor while 50 patients (19.8%) had more than one risk factor. Among all study subjects, only 5 patients (0.9%) had oligohydramnious during their pregnancy, 54 (9.4%) presented with a history of breech presentation, 86 (15%) were first child to the family, and 165(28.8%) had a positive family history for DDH.
    Conclusion: Family history was found to be the most prevalent risk factor of DDH while oligohydramnious was the least. No risk factors were identified in most of the DDH patients, thus we recommend a carful hip examination by pediatrician during the regular follow up. Since most patients were diagnosed late after the age of 3 months, we recommend a national screening program for every newborn in the nursery and pediatricians should be carefully examine and follow them up in the well-baby clinic with vaccinations.
    Maria Elvira Pizzigatti Correa*, Fernanda Goncalves Basso, Joyce Maria Annichino-Bizzacchi, Samuel de Souza Medina, Camila Cominato Boe, and Roberto Zulli
    Background: In spite of the high incidence of gingivitis and periodontal disease in the hemophiliac population, few are known about the influence of oral health condition as risk factor for bleeding after dental extraction in this patient population. The aim of this report is to use a group of patients under oral anticoagulation as a model of acquired bleeding disorder to show the importance of local fibrinolytic activity in the oral cavity, and propose, based on these data, a safe approach for dental extraction and other dental procedures in hemophilia patients.
    Patients and methods: Twelve patients were submitted to twenty dental extractions. Previous studies have demonstrated the role of the periodontal microbiota in biding and fibrinogen degradation, which might have a role on oral fibrinlysis. Oral health was measured using Gingival Index and Plaque Index which are based on recording the level of gingival inflammation due the presence of soft debris and/or mineralized deposits on the indexed teeth, respectively. Samples of non-stimulated saliva were collected before and after extraction. Samples of peripheral blood and alveolar blood were collected for fibrinolytic activity analysis, using the Fibrin Plate Method. The results showed a higher fibrinolytic activity on the alveolar blood samples when compared with the peripheral blood (p=0,006) samples. This activity also showed a positive correlation with the oral health indexes (Gingival Index and Plaque Index p<0.05). Salivary fibrinolytic activity showed a significant increase after the tooth extraction. Oral fibrinolytic activity was increased after tooth extraction and it was not related to oral health indexes.
    Conclusion: The fibrinolytic activity presented on the site of extraction was correlated with the level of gingival inflammation demonstrated by the oral health index of the extracted tooth. The fibrinolytic activity in the surgical site can represent a risk factor for secondary or late bleeding after dental extraction in patient with inherited bleeding disorder.
    Short Note
    Michel Goldberg*
    In humans, deciduous tooth development begins before birth and is complete by about the fourth postnatal year. They are lost when the patient becomes11 years old. The permanent teeth appear by 6-7 years (and later for the wisdom teeth). Most are successional, and a few are non successional. The coronal part of the human tooth is composed of two hard tissues: enamel and dentin, and this part includes the dental pulp, located in the crown.
    Review Article
    Parisa Khodayar-Pardo*
    Background: Noroviruses are, after rotaviruses, the most common cause of nonbacterial intestinal infections in children. It has been observed a lower incidence of norovirus gastroenteritis in breast-fed compared to formula-fed infants. Effective vaccines against noroviruses are not yet available, enhancing the interest of the protective mechanisms elicited by human milk. Human milk contains a wide range of agents that may play a role in the protection of breast-fed babies against different conditions. There is an increasing interest regarding the role of oligosaccharides and glycoconjugates of human milk as bioactive agents that could protect against norovirus intestinal infections in children.
    Aim: The aim of our study was to review the current knowledge regarding the involvement of oligosaccharides and glycoconjugates in the protective properties that human milk elicits against norovirus intestinal infections.
    Methods: Scientific literature was analyzed using the pubmed.gov web browser. No restrictions to the year of publications were included. The terms searched were norovirus, oligosaccharides and glycoconjugates of human milk.
    Results: An outstanding role has been attributed to oligosaccharides and glycoconjugates of human milk in the defense against norovirus. Oligosaccharides and glycoconjugates of human milk show a structural resemblance to histo-blood group antigens that act as receptors of noroviruses in enterocytes. Therefore, they could act as decoy receptors and interfere the binding of noroviruses to their receptors, critical step to allow their infectivity.
    Conclusions: Human milk constitutes an unmatched supply of essential protective substances for the infant. Oligosaccharides and glycoconjugates of human milk could be the agents responsible for the protection of breast-fed infants against norovirus intestinal infections.
    Case Report
    Michelle Ramirez*, Sujata Chakravarti, Melissa Busovsky-McNeal, Michael Argilla, and Yasir Alqaqaa
    Background: Renal Replacement Therapy (RRT), even continuous veno-venous hemofiltration (CVVH), is often not well tolerated in hemodynamically unstable patients. Ultrafiltration (UF) using the Aquadex system has emerged as a potential alternative therapy for fluid removal in critically ill pediatric patients. UF, like CVVH, traditionally requires systemic anticoagulation, putting patients at risk for hemorrhage, and precluding its use for fluid removal in patients who have had bleeding complications.
    Case: In this report, we present a neonate with complex congenital heart disease, intracranial hemorrhage and acute kidney injury (AKI) who received UF using the AquadexTM system with regional citrate anticoagulation (RCA) instead of the usual unfractionated heparin.
    Conclusions: To our knowledge, we describe the first case of the successful use of citrate for anticoagulation for UF using the AquadexTM system. Given that this novel modality for fluid removal is most useful in critically ill children who are commonly at risk for bleeding complications, RCA may prove to be a viable and important alternative to systemic anticoagulation with heparin in this population.
    Research Article
    Taichi Itoh*
    Background: Point-of-care ultrasound (POCUS) training in pediatrics varies greatly. The instructional-video training with the advancing technology of portable ultrasound machine is a novel method of POCUS training. Objective: We sought to investigate an effective, time-efficient method of POCUS training for pediatric hip effusion assessment; traditional in-person training (IPT) versus instructional-video training (IVT).
    Methods: The study enrolled participants with no prior POCUS experience/training on hip effusion assessment. They were randomized to the IPT group or the IVT group. For the IPT group, a hands-on training session was provided with a skill assessment at the end of the session. As an efficacy measure of the training method, each participants ultrasound skill was classified into poor, good, or expert. For the IVT group, each participant was provided with an instructional video and a portable ultrasound machine for 5 days. The identical skill assessment was performed upon completion. Each participant logged the amount of time spent for the training.
    Results: The study enrolled 12 participants. For the IPT group, all participants were trained in one of two group training sessions taking 80 minutes and 75 minutes, respectively. For the IVT group, the total time spent ranged from 30 minutes to 120 minutes with the average time of 71 minutes. All 6 participants from each group achieved expert level for the POCUS skill.
    Conclusions: The study revealed that the instructional-video training with a portable ultrasound machine was as effective and time-efficient as the traditional in-person training but was less resource intensive.
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