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Zwintscher N.P.,U.S. Army | Steele S.R.,U.S. Army | Martin M.J.,U.S. Army | Newton C.R.,Childrens Hospital and Research Center
American Journal of Surgery

Background: We sought to examine the impact of race on the management and outcomes of appendicitis in children aged 20 years or younger. Methods: We studied 96,865 inpatient admissions for children undergoing an appendectomy for acute appendicitis in 2009 using the Kids' Inpatient Database. Results: Perforation at presentation was more common among African-Americans and Hispanics than Caucasians (27.5% and 32.5%, respectively, vs 23.9%, P <.001). African-Americans were less likely to have a laparoscopic procedure (odds ratio [OR]:.839, P <.001) and more likely to experience a complication (OR: 1.753, P <.001). Hispanics were also more likely to have a complication (OR: 1.123, P =.001). African-Americans and Hispanics remained in the hospital for.73 more days than Caucasians (3.07 vs 2.34 days, P <.001). Conclusions: African-American and Hispanic children present more often with perforation. Adjusting for perforation, they were more likely to have a complication and longer hospital stays. Access to care and delayed presentations may be potential explanations. © 2014 Elsevier Inc. All rights reserved. Source

Tolar J.,University of Minnesota | Mehta P.A.,Cincinnati Childrens Hospital Medical Center | Walters M.C.,Childrens Hospital and Research Center
Biology of Blood and Marrow Transplantation

Hereditary disorders that trace their origin to the hematopoietic stem cell have been targeted for allogeneic therapy and were among the first human diseases cured by successful hematopoietic cell transplantation (HCT). More recently, the possibility of treating nonhematopoietic hereditary disorders in which engraftment of hematopoietic cells might ameliorate tissue damage in target organs has also been investigated with encouraging results. As in the malignant hematological disorders, transplantation results have improved over the past 3 decades as a consequence of more refined donor selection and patient risk stratification with modifications to the conditioning regimen. The application of these principles is described in this update about HCT for hereditary marrow failure syndromes and hemoglobin disorders. In addition, a novel indication of HCT for epidermolysis bullosa is presented. Together, these representative disorders illustrate the potential for an expanding role of HCT for nonmalignant disorders. © 2012. Source

Wooldridge T.,Childrens Hospital and Research Center | Lytle P.P.,Argosy University
Eating Disorders

This article presents an integrative overview of existing research on anorexia nervosa (AN) in adolescent males. AN is commonly thought of as a female disorder. Even though as much as 25% of the clinical population is male, research on AN in males is limited. Additionally, most conceptualizations of male AN emphasize a single etiological factor and, therefore, produce treatments that fail to address it as a global phenomenon. In contrast, an integrative understanding that incorporates research on the familial, biological, cultural, and psychodynamic elements involved in male AN encourages treatment that comprehensively addresses the disorder. © 2012 Copyright Taylor and Francis Group, LLC. Source

Olivieri N.F.,University of Toronto | Pakbaz Z.,Childrens Hospital Oakland Research Institute | Vichinsky E.,Childrens Hospital and Research Center
Indian Journal of Medical Research

Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/β-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive recommendations for the optimal management of patients. Genetic factors influencing the severity of this disorder include the type of beta-thalassaemia mutation, the co-inheritance of alpha-thalassaemia, and polymorphisms associated with increased production of foetal haemoglobin. Other factors, including a variable increase in serum erythropoietin in response to anaemia, previous or ongoing infection with malaria, previous splenectomy and other environmental influences, may be involved. The remarkable variation, and the instability, of the clinical phenotype of Hb E beta-thalassaemia suggests that careful tailoring of treatment is required for each patient, and that therapeutic approaches should be re-assessed over-time. Source

Trachtenberg E.A.,Childrens Hospital and Research Center | Holcomb C.L.,Roche Molecular Systems
Methods in Molecular Biology

Next-generation sequencing (NGS) of HLA class I and II loci (HLA-A, HLA-B, HLA-C, DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, DPB1) is described here in detail using the 454 Life Sciences GS FLX System and Titanium chemistry. An overview of the protocol with our experience on sequence performance efficiencies, read depth and ambiguity analyses using the GS FLX System are also presented. A total of 14 HLA primer pairs with multiplex identifiers (MIDs) are used in clonal, amplicon-based pyrosequencing of up to 44 samples per plate using the GS FLX. Genotype assignment and ambiguity reduction analysis is performed using Conexio Assign ATF 454 software. Clonal NGS gives a significant reduction in genotyping ambiguity during analysis of the highly complex HLA system. © Springer Science+Business Media, LLC 2013. Source

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