SM Journal of Pediatrics

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A Case of Reverse Shapiro Syndrome Responding to Cyprohepatadine

Reverse Shapiro syndrome consists of the association of unexplained hyperthermia and corpus callosum agenesis. The genetic basis is still unidentified; yet, neurochemical abnormalities as well as hypothalamic dysfunction have been proposed as possible etiologies. Only four cases of reverse Shapiro Syndrome have been reported to date and many therapeutic managements have been proposed without any radical success. Here we report a new case of a 6 months old male patient, with controlled cryptogenic epilepsy who is also presenting with a reverse Shapiro syndrome. The patient presented with recurrent episodes of hyperthermia that responded completely to a treatment by cyproheptadine.

Hicham Mansour*, Maha Sabouneh and Ghassan Hmaimess


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Commentary: Environmental Medicine: The Role of Epigenetic Mechanisms

With the current emphasis on delivering accurate diagnosis, prognosis and treatments to prevent and treat human diseases, it is critical that one understands the mechanistic bases for the pathogenesis of both acute and chronic diseases. Although “Environmental Medicine” involves the whole spectrum of clinical disciplines from obstetrics, pediatrics to geriatrics and involves the potential roles of genetics in the onset of any diseases that to be associated with some environmental factor(s), the roles of “epigenetic” toxicological mechanisms seems to be largely ignored in “personalized medicine”, or “precision medicine” where the use of genetic information has played a major role in certain aspects of personalized medicine. With the recent development of sophisticated molecular technologies, various current paradigms, some having origins in past insights to the origin of “genetic or heredity diseases” or in the discovery of environmental agents (radiation, toxic chemicals or pathogenic biological organisms), there has been some confusions of how these agents contribute to these diseases.

A short “Commentary” is proposed to assist in sorting out these various factors contributing to “genetic” and “environmental” causes of these diseases. In brief, it will be assumed that the singular concept that genes or environmental factors, alone, are not “the” cause of any disease, but that complex interactions are needed to affect disease pathogeneses. This will involve our current understanding that mutations (gene or chromosomal), cell death and alterations of gene expression at the transcriptional, translational and posttranslational levels (epigenetic change) are involved in the toxicological mechanisms of the pathogenesis of birth defects, cancer, cardiovascular diseases, inflammatory diseases, reproductive- and neurological-disorders. Much of our global disease burden is the result of a collision of glacial-speed biological evolution of genes needed for survival and reproduction with the laser speed cultural evolution. Lastly, with the recent discovery of organ-specific adult stem cells, alteration of the numbers (increase or decrease) of these organ-specific stem cells could provide the mechanistic basis for the risk of various stem-cell related diseases later in life (The Barker hypothesis)

James E Trosko*


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Development of a Method to Use a Color Tracker for Motor Therapy for Individuals with Rett Syndrome

Background and Objectives: Rett Syndrome (RTT) is a development disorder with a known genetic origin that causes a child to lose purposeful use of their hands and develop characteristic stereotypical repetitive hand movements. Through the use of Virtual Reality (VR), the frequency, length, and intensity of therapy sessions can be enhanced, leading to improved upper extremity function.

Methods: The objective was to develop a VR system, namely VR_Color Tracker, specifically tailored for persons with RTT and designed to decrease the characteristic stereotypical repetitive hand movements and increase the use of hands in skilled function. The VR_Color Tracker was created, tested, revised, and retested through the use of a multi-level, iterative development process. Limitations such as technological restrictions and effective tracking were addressed prior to testing with a RTT participant.

Results: A feasibility investigation was carried out, a System Usability Scale (SUS) was completed with the researchers, and the system’s usability was determined to be in the seventieth percentile.

Conclusions: The VR_Color Tracker is feasible to use for an individualized approach to RTT therapy, but more research is needed to determine its clinical efficacy

Nicole E. McAmis¹, Matthew H. Foreman¹, Molly D. Himmelrich², Pamela S. Diener², and Jack R. Engsberg¹*


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Outcomes and Prognostic Factors for Non-metastatic Osteosarcoma of the Extremity

Purpose: To assess the impact of several patient-related and treatment-related prognostic factors in patients with localized osteosarcoma of the extremities treated at a single institution with the same chemotherapy protocol over a three-year period.

Patients and Methods: We reviewed 57 patients with localized osteosarcoma of the extremities treated at the Children’s Cancer Hospital, Egypt, between July 2007 and December 2010, with a minimum follow-up of one year. Gender, age, tumor site and size, type of surgery, surgical margins, serum level of alkaline phosphatase and histologic response to preoperative treatment were retrospectively evaluated.

Results: With a median follow-up of 23 months, the three-year Event-Free Survival (EFS) and overall survival rates were 70.5% and 77.8 %, respectively. In univariate analysis, EFS was significantly related to the age of patients, serum level of alkaline phosphatase, and tumor volume but not to histologic subtype or histologic response to preoperative treatment. In multivariate analysis, only gender and serum alkaline phosphatase were statistically significant. Local and systemic recurrences occurred in 12 patients (21%) (10 developed pulmonary metastasis, one patient developed both bone and pulmonary metastases, and one patient had local recurrence). Median time to recurrence was 9.2 months, and recurrence correlated with the histologic response to preoperative treatment, tumor volume and serum alkaline phosphatase.

Conclusion: The three- year EFS and overall survival were 70.5% and 77.8%, respectively. Age, tumor volume, and the serum level of alkaline phosphatase significantly influenced EFS. These factors should be considered when deciding on risk-adapted treatments for osteosarcoma patients. However, gender and serum alkaline phosphatase were the only significant variables in the multivariate analysis

Manal A. Zamzam¹, Emad Ali H. Moussa², Ahmed El Ghoneimy³, Magdy El Sherbiny³, Mohamed S. Zagloul⁴, Hala Taha⁵, Iman Goda⁵, Sameera Ezzat⁶, and Ranin Soliman⁷*


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Association of Post-Surgical Lactate Levels with Morbidity and Mortality in Pediatric Patients Undergoing Extracorporeal Circulation Pump

Lactate is a final product of anaerobic metabolism its accumulation can produce cellular and organic dysfunction of all systems leading to lactic acidosis [1]. Access to its measurement in hospitals has allowed it to be used as a marker of tissue hypoperfusion in multiple pathologies. This marker has been studied as a prognostic factor in patients with sepsis, septic shock, but has not been studied in patients undergoing surgical correction of cardiac malformations [2].

María del Pilar Cejudo-García de Alba¹, Jaime Valle Leal¹*, Jesús Gabriel Sánchez Beltrán², Amado Jesús Francisco Vázquez-Amparano¹, and Jesús Manuel Armenta Velderrain¹


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Delali M. Badasu¹*, Deborah Atobra², Francis Adzei³, Aaron Abuosi³, Alfred Yawson⁴, and John Anarfi¹

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A Case of Reverse Shapiro Syndrome Responding to Cyprohepatadine

Hicham Mansour*, Maha Sabouneh and Ghassan Hmaimess

Pages: 11

Severe Staphylococcal Scalded Skin Syndrome Following Purulent Conjunctivitis

Esra Türe¹*, Abdullah Yazar¹, and Fatih Akın¹

Pages: 11

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Seth J. Worley, MD, FHRS, FACC

Director, Interventional Implant Program MedStar Heart & Vascular Institute, Washington, DC, USA

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