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Pediatrics

Expanding the Use of a Child Abuse Alert System to Improve Detection and Reporting

Submitted by stronach on

Child abuse is a leading cause of death and disability in children. Each year, Child Protective Services, or CPS, receives more than 3 million reports of child abuse. In addition, nearly 1,600 children die from child abuse each year.
What was the goal of this implementation project?

Addressing Barriers to Broad Dissemination of EHR-embedded Child Abuse Clinical Decision Support

Submitted by stronach on

Background: Child maltreatment is a leading cause of morbidity and mortality in children. Early identification is critical. Through funding from PCORI, the project team developed a child abuse clinical decision support (CA-CDS) system in the electronic health record (EHR) that helps medical providers identify and evaluate child maltreatment. This system is now used in more than 10 healthcare systems in the United States. The goal is for CA-CDS to be widely available and to decrease morbidity and mortality from child maltreatment.

Ganglioside Replacement Therapy for GM3 Synthase Deficiency

Submitted by stronach on

Gangliosides are complex sialic acid-containing glycosphingolipids that are particularly enriched in the brain and are critical for brain development and function. GM3 synthase deficiency is a genetic disorder of ganglioside biosynthesis occurring primarily, but not exclusively, in the Old Order Amish. GM3, which the patients cannot synthesize, is itself not abundant in the brain; rather, it serves as the common precursor for all downstream gangliosides. Thus, patients completely lack cell-surface gangliosides.

Defining an immunological mechanism for a microbiota-based therapy for colorectal cancer

Submitted by stronach on

Project Summary/Abstract Colorectal cancer (CRC) is a leading cause of cancer-related death and its incidence is on the rise, particularly in young people. Therapy for late stage CRC is often ineffective and colorectal tumors are most often detected at stage 3 or 4. Immunotherapy is revolutionizing the treatment of many types of cancer but is only effective for a very small subset of CRC patients. Thus, there is a tremendous need for improved therapies for CRC.

Implications of Genetic Diversity in Muscular Dystrophy

Submitted by ccornely on

DESCRIPTION (provided by applicant): Differences in our individual genomes give rise to most of human diversity. This uniqueness of every human being underpins the purpose of precision medicine, which posits that disease prediction, diagnosis, and treatment for each individual is based on personal genomic variations. The rapid advancement of genome editing technology has led to numerous promising preclinical studies in muscular dystrophies (MDs).

Using the Electronic Medical Record to Improve Outcomes and Decrease Disparities in Screening for Child Physical Abuse

Submitted by ccornely on

Child physical abuse is the leading cause of trauma-related death in children younger than 4 years of age in the United States. Many of the children who are injured or die as the result of physical abuse had been previously evaluated by a physician, and the diagnosis of abuse was not recognized. Failure to recognize abuse in its less severe forms can result in repeated abuse and increased morbidity and mortality. Numerous studies demonstrate that physicians fail to consistently screen for abuse in even high-risk situations.

New Vaccine Surveillance Network

Submitted by ccornely on

Acute respiratory illness (ARI) and acute gastroenteritis (AGE) are leading causes of disease in children in the U.S. and globally. These infections contribute a substantial burden of morbidity, mortality, and direct health care costs, in addition to the indirect costs associated with parental leave from work. Many cases of ARI are caused by viruses, including influenza, respiratory syncytial virus, and others. Similarly, most AGE in the U.S. is associated with viruses, including rotavirus and others.

The Coordination of Lipid Synthesis And Breakdown in Metabolism and Aging

Submitted by ccornely on

The coordination of lipid synthesis and degradation in metabolism and aging ABSTRACT/SUMMARY Lipid imbalances are characteristic of obesity and a feature of many age-related ailments and reproductive pathologies in humans. Yet, the relationship between lipid metabolism, aging and reproduction remains poorly studied. We propose to use the nematode C. elegans to characterize this relationship. In particular, we propose to investigate how the balance between lipid synthesis and breakdown influences an organism's rate of aging and health. In C.

Mechanisms of NLRC4 Inflammasome-Associated Hyperinflammation

Submitted by ccornely on

It has long been recognized that dysregulated inflammation causes many human diseases. The systemic inflammatory response, best associated with infections (termed sepsis), is a common and life- threatening example of hyperinflammatory damage. Very little is known about what regulates an appropriate versus excessive inflammatory response, or how to manipulate inflammation to prevent damage. The goal of this proposal is to understand how mutations in a protein called NLRC4 result in a human sepsis-like phenotype known as Macrophage Activation Syndrome (MAS).

Lung-specific expression and function of Blimp-1 in T cells impacting allergic asthma

Submitted by ccornely on

Allergic asthma is a chronic inflammatory disease of the lung that drives a type 2 cytokine response (such as IL- 4, IL-5, and IL-13) predominately produced by activated CD4 T cells of a Th2 phenotype in response to exposure with environmental allergens. The master transcription factor GATA3 is known to drive Th2 development and promote type 2 cytokine production, however, the molecular pathways that drive Th2 cells to allergens at both the initiation and recall stages are not well understood.