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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
    Case Report
    Amber Newell, Elizabeth Alfonso, and Heakyung Kim*
    Accidents and trauma, including abusive head trauma (AHT), are leading causes of death and disability in children. One of the most common sequelae of AHT in children is traumatic brain injury (TBI), of varying severity. Amantadine, a dopamine agonist, is one of the most commonly prescribed medications for prolonged disorders of consciousness (DOC) after TBI and has been proven to facilitate a faster rate of recovery. The purpose of this case study was to examine the effectiveness of amantadine on alertness and cognitive and physical function in a ten-month-old female infant with chronic AHT six months post-injury. The infant girl in this case had shown minimal recovery in the 6 months following injury until the time when she was started on amantadine. She remained on amantadine for a total of 19 months and the medication was well tolerated. Her development was closely monitored and she demonstrated significant improvements in her motors skills, socialization and speech during this period. This case supports the use of amantadine in infants, even in cases of chronic brain injury and prolonged DOC, to bring meaningful change to cognitive and motor function. It is still unclear at what point amantadine can be safely discontinued without regression of skills, but in this case, the patient took amantadine for over one year and was safely weaned off medication without signs of regression. Further studies are needed to provide additional evidence on the efficacy of amantadine in children with TBI, including in younger ages.
    Rani Iani Costa Goncalo, Mariana Carvalho Xerez, Caio Cesar da Silva Barros, Katianne Soares Rodrigues, Ericka Janine Dantas da Silveira, Antonio de Lisboa Lopes Costa, and Patricia Teixeira de Oliveira*
    Oral lichen planus (OLP), is a chronic inflammatory disease that mainly affects women and is rarely observed in children and adolescents. We report here two cases of OLP in adolescents and review the cases published in the literature. First one, a 10-year-old boy exhibited asymptomatic lesion in the vermillion border of the lower lip and white lesions on the dorsum of the tongue. The second one, a 15-year-old boy presented asymptomatic white striations and plaques in the tongue and buccal mucosa. Incisional biopsies were performed under the clinical hypothesis of OLP. Microscopically, it was observed fragment of oral mucosa lined by orthoceratinized stratified squamous epithelium. Areas of basal cell degeneration and a band-like infiltrate of inflammatory cells predominantly lymphocytic around the basement membrane region. Based on clinical and histopathological features, the histopathological diagnosis of OLP was rendered. In children and adolescents, OLP clinically resembles the disease seen in adult patients but the prognosis is more favorable. Physicians and dentists should be aware of the occurrence of OLP in childhood and adolescence since it is often not included in the differential diagnosis of white lesions in this age group.
    Review Article
    Inger Kjr*

    The text in this review is divided in three sections, each with results from four decades of research at the borderlines between orthodontics and the medical disciplines: embryology, fetal pathology, endocrinology, neurology, neuro-anatomy, neuro-psychiatry, neuro-radiology, and neuro-anthropology. The focus in this interdisciplinary collaboration has been on the central nervous system (CNS) and the peripheral nervous system (PNS). The three sections are:

    Section 1: The theoretical background for understanding the normal close interrelationship between CNS/PNS and the hard tissues based on human fetal studies and human postnatal studies.

    Section 2: CNS. Clinical examples demonstrating the pathological interrelationships between the brain and the cranial base.

    Section 3: PNS. Clinical examples demonstrating the pathological interrelationships between the peripheral nerve branches and the jaws, alveolar processes, and teeth.

    It is demonstrated how cranial bones in the anterior cranial fossa are associated with disturbance in the cerebrum and how abnormal contours in sella turcica are associated in different pituitary gland malformations. Furthermore it is demonstrated how abnormal morphology of the posterior cranial fossa can reveal cerebellum disturbances. It is highlighted that the dental arches are composed of different fields (areas) with different neural crest origins and therefore different innervations. Malformed teeth or absence of teeth within specific fields can reveal disturbances in peripheral nerves.

    Research Article
    Charalampos Kapogiannis*, Artemis Doulgeraki, Olga D. Savvidou, Helen Athanasopoulou, Giorgos Polyzois, Helena Fryssira, and Panayiotis J. Papagelopoulos
    Objective: Sotos syndrome is a rare overgrowth disorder. Bone mineral density (BMD) and bone turnover data in patients with Sotos syndrome are scarce. We describe the skeletal status of a paediatric cohort and also pursue the best method to adjust bone mineral density for their tall stature.
    Patients and methods: Bone mineral density, bone geometry and laboratory metabolic bone profile were measured in children with diagnosis of Sotos syndrome. Dietary and fracture history, skeletal deformities and presence of pain and comorbidities were recorded.
    Results: Eighteen patients aged five to eighteen years old were assessed; twelve (67%) had scoliosis. There was no history of fracture or significant bone pain. However, they all had suboptimal dietary calcium intake. Median, unadjusted for body size BMD Z-scores of lumbar spine and total body less head were normal. However, the Z-scores BMD obtained through height-age (Ht-A) and bone age (BA) adjustment were lower, especially at the lumbar spine site. Bone markers were within normal values. Regarding bone turnover, a strong negative correlation was found between Z-score BMD TBLH (BA) and urinary calcium excretion (UCa/Ucr) (r: -0.731, p<0.05). Finally, a positive correlation was found between Z-score BMD LS (BA) and osteocalcin (OC) (r: 0.57, p<0.05).
    Conclusion: There was no evidence of osteoporosis in our cohort. Bone mineral density adjustment with bone age reflected our cohorts bone profile more effectively than with height-age, as it was correlated significantly with urinary calcium excretion and osteocalcin. Therefore, UCa/Ucr and OC could potentially have a prognostic value for skeletal health.
    Short Notes
    Saccomanni Bernardino*
    Congenital dislocation of knee is a rare desease and may be associated with other congenital and musculoskeletal disorders. Early diagnosis of CDK is very important non operative treatment usually provides more stable, greater range of motion and much more quadriceps strength than the surgical treatment. I believe that early reduction of dislocation prevents formation of the knee contracture. Here, I document a review of literature. In this review, there are not figures and outcomes.
    Yanrong Wang*, Xianfeng Wang, Ling Li, and Dongming Pan
    The epidemic of Corona virus disease-19 (COVID-19) attributed to SARS-CoV-2 (formerly 2019-nCoV) has brought a worldwide public health threat since December 2019 in Wuhan, Hubei Province, China
    Research Research
    Maria de Lourdes Merighi Tabaquim, Evandro Henrique Ferreira, Fabiana Ribas Ferreira, Ana Teresa Hernandes Teodoro, and Dionisia Aparecida Cusin Lamonica
    The aim of this study was to describe the evolution of the neurodevelopment of an atypical Robin Sequence clinical case and the impact of emotional burden on the primary caregiver. Female participant, age 01 years and 08 months, with Robin Sequence, typical characteristics and global developmental delay. Two development assessments were carried. The results showed an evolution of adaptive behavior in the domains of interpersonal socialization, personal autonomy, receptive and expressive communication. Five psychiatric indicators of body activity showed an improvement. Acquisition of sentence comprehension and beginning of primitive imitation activities. The caregivers emotional burden showed a reduction in indicators and degrees of intensity. The childs repertoire of skills, although showing a restricted evolution, showed the importance of early diagnosis for rehabilitation and minimizing the impact on the family routine and the stressful condition of the primary caregiver.
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