• Contact Us
  • Indexing
  • Submit Manuscript
  • Open Access
  • Journals
  • Home
  • 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
    Vijay CS* and Chen CB
    Infections in the infratemporal region can be a major source of morbidity and have been known to occur after dental procedures. Neurovascular structures running through the infratemporal fossa serve as a source for infections to track to different areas of the head and neck. The proximity of the infratemporal fossa to other major structures makes timely diagnosis critical. Infratemporal fossa abscesses are a rare complication and only a few cases have been described in the literature. As the clinical symptoms may be non-specific, the diagnosis may be challenging for healthcare providers. We describe a patient who presented with facial swelling and trismus following wisdom tooth extraction who was found to have an infratemporal fossa abscess.
    Emmanouil Skordilis*, Iain Greenless, Nikolaos Chrysagis, Eirini Grammatopoulou, Papadopoulou Vasiliki, Francisco Javier Pardo Gill, Joel Gaillard, Antonis Skordilis, Joao Dias, and Dionysios Serras
    The study was based on the Self-Determination Theory (SDT) and examined the validity and reliability of the Basic Psychological Needs in Exercise Scale (BPN-ES) [27], of individuals with Intellectual Disabilities (ID) from Greece, Cyprus and Portugal. The participants were 152 adolescents and adults with ID, 72 females and 80 males, with high (N = 92), moderate (N = 22) or low functionality (N = 38), aging 16 to 51 years old, attending daily centers in Greece (N = 100), Portugal (N = 20) and Cyprus (N = 32). Data was collected from a psychologist and a coach, both employed at the respective daily centers.
    The statistical analyses revealed sufficient predictive validity evidence through the intercorrelations of the BPN-ES (autonomy, competence and relatedness) with the Pictorial Motivation Scale (intrinsic motivation IM, self-determined extrinsic motivation SDEM, non-self-determined extrinsic motivation NSDEM, and a motivation AM). Further, significant differences were found among individuals who differed according to functionality with respect to autonomy and competence (construct validity evidence). The BPN-ES Cronbach alpha indexes (.703 to .709) and the Intraclass coefficients (.689 to .831) provided sufficient internal consistency and test retest reliability evidence.
    The present findings supported the BPN-ES psychometrics for individuals with ID and are discussed accordingly. Certain limitations however, such as co morbidities, sampling methods, established golden standard, blind assessments and ethnic backgrounds do not allow generalization without caution. Future researchers may overcome these limitations and establish a solid motivation measure across Europe, based on the SDT, for individuals with ID.
    Brbara Nara de Freitas de Almeida, July Ane Laufer, Thais Regina Mezzomo, NatAlia Cristina Shimada, Ivy Hulbert FalcAo Furtado, Marcia Regina Messaggi Gomes Dias, and Rosana Marques Pereira
    Objective: To evaluate the anthropometric and biochemical characteristics of children and adolescents with phenylketonuria.
    Methods: Retrospective study with anthropometric and biochemical data collection from patients with phenylketonuria in the age group 2-19.9 years. Nutritional status was classified according to the World Health Organization. Biochemical tests were compared to current recommendations.
    Results: A total of 84 patients (71.8%) were eligible, with a median age of 10.7 years (2.4-19.9 years). There was predominance of eutrophy (n = 58, 69%) with presence of overweight and obesity in 24 (28.5%) patients. The biochemical tests revealed hyperphosphatemia in 46 (55%), hypertriglyceridemia in 27 (50%), vitamin B12 elevated in 34 (41.2%), selenium deficiency in 10 (13.7%), insufficient zinc in 7 (8.9%), low globulin in 21 (26.9%), low HDL in 35 (59.3%) and elevated phenylalanine level in 28 (34.5%) patients in the sample. Overweight and obesity were correlated with low HDL (p= 0.04) and lowest adequate frequency of LDL (p = 0.09). Higher phosphorus values were associated with lower body weight (r = -0.72) and age (r = -0.75), as well as vitamin B12 in the same parameters (r= -0.67 and r= -0, 68). A positive correlation of phenylalanine with body weight and age (r = 0.62 and r = 0.66) was observed.
    Conclusion: Most patients presented eutrophy according to anthropometric parameters and appropriate biochemical tests, except HDL, and moderate metabolic control of the disease. However, attention should be paid to the presence of overweight and need for biochemical monitoring of triglycerides, selenium, zinc, HDL, and phenylalanine.
    Priscila Zanetti, Maisi Ruy Flores, and Lilian Rigo*
    The anxiety presented by the patients may be related to numerous factors. The study aims to evaluate the anxiety level and influence of factors of regarding dental treatment in high school students between 14 and 19 years of age, based on an anxiety scale and identifying the influence of determinant factors associated with anxiety. Its a cross-sectional observational study including 153 students, of whom 47 were from the private school and 106 from the state school in a city of southern Brazil. The Corah Dental Anxiety Scale, composed of 4 questions, was used to evaluate the dental anxiety levels of all students. The data were analyzed through descriptive statistic to verify the frequency distribution of all variables. Pearsons chi-square test (p<0.05) and 95% confidence interval were used to evaluate the association between the dependent variable (dental treatment anxiety) and the independents, aided by the SPSS software 20.0. The descriptive results show that most of the participants already consulted the dentist (98%) and presented satisfaction with the same (72.5%). School children reported that the greatest cause of dental fear is pain (33.3%), but they attend the dentist at least once every three months (43.8%). Regarding inferential analysis, the majority of the participants presented mild anxiety (48.3%), of which anxiety was higher in females (71.4%) and in those who were dissatisfied with their dentist (81%). This survey revealed that the level of dental anxiety found in students was mostly low, with influence of the individuals gender and their satisfaction with the dentist.
    Case Report
    Karabayir N*, Eren A, Canbeyli G, and Celebi M
    Background: Bloody nipple discharge is extremely rare in children. The etiology and pathophysiology remain uncertain, with the most common cause being mammary ductal ectasia. In this paper, we present two cases with nipple discharge bleeding.
    Case presentation: Two baby girls presented with bleeding from the nipple. The baby who was six-months-old presented with bilateral bleeding and the baby who was three-months-old presented with bleeding from the right nipple. Physical examination and laboratory evaluations of the patients did not show any features. Both of the patients had bilateral fibrocystic changes found in the mammary ultrasonography. In both cases, breast nipple bleedings disappeared spontaneously.
    Conclusion: Breast nipple discharge is rarely seen in infants. Its etiology and pathophysiology is still unclear. Primarily these cases should be followed conservatively.
    Clinical Image
    Filipa Marujo*, Marisa InAcio Oliveira, Manuela Martins and Maria JoAo Brito
    A 4-year-old male from Guinea-Bissau presented with a 3-year history of a painless, progressively enlarging bilateral cervical mass (Figure 1).
    Lima RO, Franca CN, Junior AA, and de Souza PC*
    The Score for Neonatal Acute Physiology (SNAP) was developed in 1993 for all newborns and validated as a predictor of mortality and morbidity, based on physiological data using 34 items obtained through clinical and laboratorial evaluations. As a first-generation disease severity score in infants, SNAP was difficult to apply due to the number and complexity of items [1].
    Case Report
    Aldo Jos F da Silva*
    Introduction: Hydrocephalus occurs in 80% of patients with DandyWalker (DW) syndrome. Accord-ing to the literature, when permeability of the cerebral aqueduct is demonstrated, it is possible to use a sin-gle shunt, either ventriculoperitoneal or cystoperitoneal. The case of an asymptomatic child with a large Dandy-Walker cyst despite the presence of a ventriculoperitoneal shunt is reported herein.
    Case report: A 1-year-old female child was brought to an emergency department (General State Hospital) with a clinical picture of macrocephaly and signs of intracranial hypertension (headache, vomit-ing, and papilledema). A CT scan of the head revealed hydrocephalus and other changes, such as a cyst in the fourth ventricle and hypoplasia of the cerebellar vermis, which were compatible with Dandy-Walker malformation (DWM). It was decided to place a ventriculoperitoneal shunt. After six years of follow-up, the child still had the cyst in the fourth ventricle, which caused compression of the brainstem and hypopla-sia of the cerebellar vermis, but there was no hydrocephalus. Nevertheless, the child remains asymptomatic, with normal motor development.
    Discussion/Conclusion: The treatment of hydrocephalus and DWM remains complex and therefore controversial. However, some children may benefit from a ventriculoperitoneal shunt and remain asymp-tomatic despite the persistence of Dandy-Walker cysts.
    Alline Neves Mota, Juliana Bacellar Nunes de Brito, Caroline Cunha da Rocha, Mayara Silva Nascimento, Carlos Victor da Silva Nascimento*, Beatriz Costa Cardoso, Alyne Conduru dos Santos Cunha, Walter Refkalefsky Loureiro, and Francisca Regina Oliveira Carneiro
    Background: Necrotizing fasciitis is a soft tissue infection, mainly related to penetrating trauma, which creates a gateway for pathogens.
    Case presentation: A female patient, 8 months old, is admitted to the Pediatrics Emergency Unit of the with erythema, edema and hemorrhagic blister at the site of application of the Influenza vaccine 4 days post-vaccination.
    Discussion: Necrotizing fasciitis is a dermatological condition with a polymicrobial etiology, due to the synergism of the necrotoxins of such pathogens. Tests show leukocytosis and significant elevation of C-reactive protein. Treatment should be performed with broad-spectrum antimicrobials initially and with subsequent adjustment for those of proven sensitivity, in addition to early surgical debridement.
    Conclusion: Necrotizing fasciitis is a severe infection, with fast evolution which can lead to death. Its presentation after vaccination must be considered and avoided with proper hygiene and prophylactic methods during the administration of the vaccine.
    Research Article
    Hardy JD*
    Background: A comparison of outcomes for CH before and after the start of the NSP in the UAE.
    Methods: Review of the findings of all the babies with CH seen in the period 1996 to 2004.
    Results: Before the UAE NSP babies were usually diagnosed very late often with a bad outcome. The NSP resulted in much earlier diagnosis and better outcome. The incidence of CH was high compared to most other studies and eutopic hypothyroidism was nearly as common as ectopic hypothyroidism. Some of the former could come off treatment later and some of the latter were very mild.
    Conclusion: The most important conclusion is that the NSP is very worthwhile with generally good outcomes.
    Yasin F*, Afridi ZS, Mahmood Q, Khan AA, Condon S, and Khan R
    Bronchiolitis is the most common lower respiratory illness that characteristically affects the children below two years of age accounting about 2-3% of patients, admitted to hospital each year. We compared the effect of Racemic Epinephrine (RE) and 3% Hypertonic saline (HS) nebulization on the length of stay (LOS) in the hospital. We looked at the infants with moderate bronchiolitis, from October 2013 through March 2014. Out of eighty cases, 16 in HS and 18 in RE groups were enrolled.
    At the time of admission, 0.2ml of RE added to 1.8ml of distilled water was nebulized to RE group, as compared to 2ml of 3% HS in nebulized form. RE was re-administered if needed on 6 hourly in comparison to 3% HS at the frequency of 1 to 4 hourly. One infant from RE group and three infants from HS group were excluded due to progression towards severe bronchiolitis. The LOS in RE group ranged between 18-160 hrs (Mean 45 hrs) while in HS group, LOS was 18.50- 206 hrs (Mean 74.3 hrs). The LOS was significantly short in RE group (p-value 0.015) which was statistically significant. Racemic Epinephrine nebulization as first-line medication may significantly reduce the length of hospital stay in infants with moderate bronchiolitis in comparison to nebulized HS.
    Review Article
    Saccomanni Bernardino*
    Fractures of the carpal scaphoid are not common in children. When they occur the fractures are usually located in the distal pole but they have also been sustained through the waist. Resultant scaphoid non-unions have been reported. Their optional treatment remains controversial. Most fractures of the scaphoid in the immature skeleton heal with immobilization. Other options may be included bone grafting with K-wire fixation, without osteosynthesis and Herbert screw fixation with or without bone grafting. I believe that open reduction and internal fixation with Herbert screw using bone grafting is a reliable option that obtained excellent results. Here, I document a review of literature. In this review, there are not figures and outcomes.
  • JSciMed Central Blogs
  • JSciMed Central welcomes back astronaut Scott Kelly and cosmonaut Mikhail Kornienko.

    Wonder Women Tech not only disrupted the traditional conference model but innovatively changed the way conferences should be held.

    JSciMed Central Peer-reviewed Open Access Journals
    About      |      Journals      |      Open Access      |      Special Issue Proposals      |      Guidelines      |      Submit Manuscript      |      Contacts
    Copyright © 2016 JSciMed Central All Rights Reserved
    Creative Commons Licence Open Access Publication by JSciMed Central is licensed under a Creative Commons Attribution 4.0 International License.
    Based on a work at https://jscimedcentral.com/. Permissions beyond the scope of this license may be available at https://creativecommons.org/.