Children's Memorial Hospital

About: Children's Memorial Hospital is a based out in . It is known for research contribution in the topics: Population & Transplantation. The organization has 5652 authors who have published 8967 publications receiving 283837 citations.

Benign and malignant smooth muscle tumors containing Epstein-Barr virus in children with AIDS

Abstract: Smooth muscle tumors (leiomyosarcomas) are the second most prevalent malignancy of children with the acquired immunodeficiency syndrome (AIDS). We have investigated the tumors, plasma, and peripheral white blood cells of eight children with AIDS with smooth muscle tumors for evidence of tumor association with human immunodeficiency virus (HIV) and Epstein-Barr virus (EBV). Very low levels of HIV were found in the tumors of the AIDS patients, probably resulting from blood-borne carriage of virus. These smooth muscle tumors had very high quantities of EBV in all the tumor cells by in situ hybridization, with an average of 4.5 EBV genomes per cell by quantitative polymerase chain reaction amplification. Increased amounts of EBV were found in the peripheral blood cells of two AIDS patients before the time of tumor diagnosis. EBV clonality studies demonstrated different monoclonal EBV infection of two separate colonic tumors from one patient, and dual or mixed monoclonal EBV infection in another patient. The muscle cells of leiomyomas and leiomyosarcomas of patients with AIDS demonstrated prominent staining with antibodies to the EBV receptor. The uniform distribution and striking amount of EBV in the tumor cells demonstrates that EBV is capable of infecting smooth muscle cells and that these cells support EBV replication. Clonal EBV proliferation suggests that EBV infection occurs at an early stage of tumor development. These findings indicate that EBV has a causal role in the oncogenesis of leiomyosarcomas of patients with AIDS.

A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.

Abstract: Two heterozygous PTH/PTH-related peptide (PTHrP) receptor missense mutations were previously identified in patients with Jansen’s metaphyseal chondrodysplasia (JMC), a rare form of short limb dwarfism associated with hypercalcemia and normal or undetectable levels of PTH and PTHrP. Both mutations, H223R and T410P, resulted in constitutive activation of the cAMP signaling pathway and provided a plausible explanation for the abnormalities in skeletal development and mineral ion homeostasis. In the present study we analyzed genomic DNA from four additional sporadic cases with JMC to search for novel activating mutations in the PTH/PTHrP receptor, to determine the frequency of the two previously identified missense mutations, H223R and T410P, and to determine whether different mutations present with different severity of the disease. The H223R mutation was identified in three novel JMC patients and is, therefore, to date the most frequent cause of JMC. In the fourth patient, a novel heterozygous missense muta...

The improvement of care for paediatric and congenital cardiac disease across the World: a challenge for the World Society for Pediatric and Congenital Heart Surgery.

Abstract: The diagnosis and treatment for paediatric and congenital cardiac disease has undergone remarkable progress over the last 60 years. Unfortunately, this progress has been largely limited to the developed world. Yet every year approximately 90% of the more than 1,000,000 children who are born with congenital cardiac disease across the world receive either suboptimal care or are totally denied care.While in the developed world the focus has changed from an effort to decrease post-operative mortality to now improving quality of life and decreasing morbidity, which is the focus of this Supplement, the rest of the world still needs to develop basic access to congenital cardiac care. The World Society for Pediatric and Congenital Heart Surgery [http://www.wspchs.org/] was established in 2006. The Vision of the World Society is that every child born anywhere in the world with a congenital heart defect should have access to appropriate medical and surgical care. The Mission of the World Society is to promote the highest quality comprehensive care to all patients with pediatric and/or congenital heart disease, from the fetus to the adult, regardless of the patient's economic means, with emphasis on excellence in education, research and community service.We present in this article an overview of the epidemiology of congenital cardiac disease, the current and future challenges to improve care in the developed and developing world, the impact of the globalization of cardiac surgery, and the role that the World Society should play. The World Society for Pediatric and Congenital Heart Surgery is in a unique position to influence and truly improve the global care of children and adults with congenital cardiac disease throughout the world [http://www.wspchs.org/].

A multisite controlled study of risk factors in pediatric psychogenic nonepileptic seizures

Abstract: Summary Objective Psychogenic nonepileptic seizures (PNES) in youth are symptoms of a difficult to diagnose and treat conversion disorder. PNES is associated with high medical and psychiatric morbidity, but specific PNES risk factors in the pediatric population are not known. We examined if youth with PNES have a distinct biopsychosocial risk factor profile compared to their siblings and if the interrelationships between these risk factors differentiate the PNES probands from the sibling group. Methods This multisite study included 55 youth with a confirmed diagnosis of PNES (age range 8.6–18.4 years) and their 35 sibling controls (age range 8.6–18.1 years). A video EEG and psychiatric assessment confirmed the PNES diagnosis. Parents reported on each child's past and present medical/epilepsy, psychiatric, family, and educational history. Each child underwent a structured psychiatric interview, standardized cognitive and academic achievement testing, and completed self-report coping, daily stress, adversities, and parental bonding questionnaires. Results Compared to their siblings, the PNES probands had significantly more lifetime comorbid medical, neurological (including epilepsy), and psychiatric problems; used more medications and intensive medical services; had more higher anxiety sensitivity, practiced solitary emotional coping, and experienced more lifetime adversities. A principal components analysis of these variables identified a somatopsychiatric, adversity, epilepsy, and cognitive component. The somatopsychiatric and adversity components differentiated the probands from the siblings, and were highly significant predictors of PNES with odds ratios of 15.1 (95% CI [3.4, 67.3], and 9.5 (95% CI [2.0, 45.7]), respectively. The epilepsy and cognitive components did not differentiate between the PNES and sibling groups. Significance These findings highlight the complex biopsychosocial and distinct vulnerability profile of pediatric PNES. They also underscore the need for screening the interrelated risk factors included in the somatopsychiatric and adversity components and subsequent mental health referral for confirmation of the diagnosis and treatment of youth with PNES.