Do Patients with Craniosynostosis Have an Increased Incidence of Auditory Neuropathy as Newborns?

Neuroscience - Vision & Functional Brain Imaging Poster SessionOBJECTIVE: To investigate the incidence of auditory neuropathy, abnormal auditory brainstem response (ABR) with normal otoacoustic emissions, in newborn patients with craniosynostosis as compared to published standards. DESIGN: A retrospective review of consecutive patients with single or multiple-suture craniosynostosis who were seen between 2002 and 2009. Patients identified by the diagnostic code of craniosynostosis were divided into groups based on suture involvement. The newborn ABR screening and, if patients were referred, diagnosis from audiologic diagnostic testing were obtained from the Missouri Department of Health. Institutional review board approval was obtained. PATIENTS: One hundred and thirty-five patients were identified. Seventy-two were excluded; 3 were listed as “missed” and 69 were not born in-state. The 63 patients included in the study were grouped by involved sutures: 2 left coronal, 7 right coronal, 2 nonsyndromic bicoronal, 3 syndromic bicoronal, 13 sagittal, 17 operative metopic, 15 nonoperative metopic, 1 pansynostosis, and 3 multiple-suture. MAIN OUTCOME MEASURES: The newborn screening results for each patient were recorded as well as the diagnosis from audiologic diagnostics if the patient was referred. RESULTS: Of the 63 patients, 94% (59/63) passed their ABR screening. Four were referred for diagnostic exam in both ears. Of those, one had a normal exam (right coronal) and three did not have diagnostic exams on file (right coronal, bicoronal syndromic and bicoronal non-syndromic). CONCLUSIONS: According to the Centers for Disease Control, 1.8 percent of newborns failed their ABR screening in 2007. Of those, 37% were found to have normal hearing on diagnostic exam. Although our study was inconclusive due to inadequate state records, it does demonstrate an increased incidence in abnormal ABR's in patients with coronal craniosynostosis. This is consistent with a recent publication that demonstrated higher incidence of abnormal ABR's in syndromic coronal craniosynostosis. If auditory abnormalities are present at birth, as our study suggests, the etiology would be unrelated to increased intracranial pressures

Inter-departmental Collaboration to Enhance Programs and Meet Community Needs

This interactive session will describe how three academic departments shared their resources and expertise to enhance program quality by giving their students opportunities to collaborate with both faculty and students of different disciplines while meeting the needs of under-represented community groups in a camp context

Engaging Faculty and Students Across Departments to Increase Community Engagement

This Brown Bag discussion will allow participants to both share results of their efforts to increase multi-disciplinary efforts of both faculty and students in the community and to brainstorm possibilities. These efforts foster collaborative problem-solving skills and increase name recognition of the university in the community

Excitonic Strings in one dimensional organic compounds

Important questions concern the existence of excitonic strings in organic compounds and their signatures in the photophysics of these systems. A model in terms of Hard Core Bosons is proposed to study this problem in one dimension. Mainly the cases with two and three particles are studied for finite and infinite lattices, where analytical results are accessible. It is shown that if bi-excitonic states exist, three-excitonic and even, n-excitonic strings, at least in a certain range of parameters, will exist. Moreover, the behaviour of the transitions from one exciton to the biexciton is fully clarified. The results are in agreement with exact finite cluster diagonalizations of several model Hamiltonians.Comment: 36 pages, 4 eps figs. to appear in Phys. Rev.

Protocol for a scoping review to support development of a CONSORT extension for randomised controlled trials using cohorts and routinely collected health data.

INTRODUCTION: Randomised controlled trials (RCTs) conducted using cohorts and routinely collected health data, including registries, electronic health records and administrative databases, are increasingly used in healthcare intervention research. The development of an extension of the CONsolidated Standards of Reporting Trials (CONSORT) statement for RCTs using cohorts and routinely collected health data is being undertaken with the goal of improving reporting quality by setting standards early in the process of uptake of these designs. To develop this extension to the CONSORT statement, a scoping review will be conducted to identify potential modifications or clarifications of existing reporting guideline items, as well as additional items needed for reporting RCTs using cohorts and routinely collected health data. METHODS AND ANALYSIS: In separate searches, we will seek publications on methods or reporting or that describe protocols or results from RCTs using cohorts, registries, electronic health records and administrative databases. Data sources will include Medline and the Cochrane Methodology Register. For each of the four main types of RCTs using cohorts and routinely collected health data, separately, two investigators will independently review included publications to extract potential checklist items. A potential item will either modify an existing CONSORT 2010, Strengthening the Reporting of Observational Studies in Epidemiology or REporting of studies Conducted using Observational Routinely collected health Data item or will be proposed as a new item. Additionally, we will identify examples of good reporting in RCTs using cohorts and routinely collected health data. ETHICS AND DISSEMINATION: The proposed scoping review will help guide the development of the CONSORT extension statement for RCTs conducted using cohorts and routinely collected health data

The sex locus is tightly linked to factors conferring sex-specific lethal effects in the mosquito Aedes aegypti

In many taxa, sex chromosomes are heteromorphic and largely non-recombining. Evolutionary models predict that spread of recombination suppression on the Y chromosome is fueled by the accumulation of sexually antagonistic alleles in close linkage to the sex determination region. However, empirical evidence for the existence of sexually antagonistic alleles is scarce. In the mosquito Aedes aegypti, the sex-determining chromosomes are homomorphic. The region of suppressed recombination, which surrounds the male-specific sex-determining gene, remains very small, despite ancient origin of the sex chromosomes in the Aedes lineage. We conducted a genetic analysis of the A. aegypti chromosome region tightly linked to the sex locus. We used a strain with an enhanced green fluorescent protein (EGFP)-tagged transgene inserted near the male-determining gene to monitor crossing-over events close to the boundary of the sex-determining region (SDR), and to trace the inheritance pattern of the transgene in relation to sex. In a series of crossing experiments involving individuals with a recombinant sex chromosome we found developmental abnormalities leading to 1:2 sex biases, caused by lethality of half of the male or female progeny. Our results suggest that various factors causing sex-specific lethal effects are clustered within the neighborhood of the SDR, which in the affected sex are likely lost or gained through recombination, leading to death. These may include genes that are recessive lethal, vital for development and/or sexually antagonistic. The sex chromosome fragment in question represents a fascinating test case for the analysis of processes that shape stable boundaries of a non-recombining region

HCV genome-wide genetic analyses in context of disease progression and hepatocellular carcinoma

<div><p>Hepatitis C virus (HCV) is a major cause of hepatitis and hepatocellular carcinoma (HCC) world-wide. Most HCV patients have relatively stable disease, but approximately 25% have progressive disease that often terminates in liver failure or HCC. HCV is highly variable genetically, with seven genotypes and multiple subtypes per genotype. This variation affects HCV’s sensitivity to antiviral therapy and has been implicated to contribute to differences in disease. We sequenced the complete viral coding capacity for 107 HCV genotype 1 isolates to determine whether genetic variation between independent HCV isolates is associated with the rate of disease progression or development of HCC. Consensus sequences were determined by sequencing RT-PCR products from serum or plasma. Positions of amino acid conservation, amino acid diversity patterns, selection pressures, and genome-wide patterns of amino acid covariance were assessed in context of the clinical phenotypes. A few positions were found where the amino acid distributions or degree of positive selection differed between in the HCC and cirrhotic sequences. All other assessments of viral genetic variation and HCC failed to yield significant associations. Sequences from patients with slow disease progression were under a greater degree of positive selection than sequences from rapid progressors, but all other analyses comparing HCV from rapid and slow disease progressors were statistically insignificant. The failure to observe distinct sequence differences associated with disease progression or HCC employing methods that previously revealed strong associations with the outcome of interferon α-based therapy implies that variable ability of HCV to modulate interferon responses is not a dominant cause for differential pathology among HCV patients. This lack of significant associations also implies that host and/or environmental factors are the major causes of differential disease presentation in HCV patients.</p></div

Temporal Proteome and Lipidome Profiles Reveal Hepatitis C Virus-Associated Reprogramming of Hepatocellular Metabolism and Bioenergetics

Proteomic and lipidomic profiling was performed over a time course of acute hepatitis C virus (HCV) infection in cultured Huh-7.5 cells to gain new insights into the intracellular processes influenced by this virus. Our proteomic data suggest that HCV induces early perturbations in glycolysis, the pentose phosphate pathway, and the citric acid cycle, which favor host biosynthetic activities supporting viral replication and propagation. This is followed by a compensatory shift in metabolism aimed at maintaining energy homeostasis and cell viability during elevated viral replication and increasing cellular stress. Complementary lipidomic analyses identified numerous temporal perturbations in select lipid species (e.g. phospholipids and sphingomyelins) predicted to play important roles in viral replication and downstream assembly and secretion events. The elevation of lipotoxic ceramide species suggests a potential link between HCV-associated biochemical alterations and the direct cytopathic effect observed in this in vitro system. Using innovative computational modeling approaches, we further identified mitochondrial fatty acid oxidation enzymes, which are comparably regulated during in vitro infection and in patients with histological evidence of fibrosis, as possible targets through which HCV regulates temporal alterations in cellular metabolic homeostasis