Vanderbilt University

About: Vanderbilt University is a education organization based out in Nashville, Tennessee, United States. It is known for research contribution in the topics: Population & Cancer. The organization has 45066 authors who have published 106528 publications receiving 5435039 citations. The organization is also known as: Vandy.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Abstract: We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject. We identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (P = 6 × 10-4). In 294 of 2,620 (11.2%) of ASD cases, a molecular basis could be determined and 7.2% of these carried copy number variations and/or chromosomal abnormalities, emphasizing the importance of detecting all forms of genetic variation as diagnostic and therapeutic targets in ASD.

Development of a questionnaire for the assessment of active and passive coping strategies in chronic pain patients.

Abstract: This study describes the development of a self-report questionnaire, the Vanderbilt Pain Management Inventory, which assesses the frequency with which chronic pain patients use active or passive coping strategies when their pain reaches a moderate or greater level of intensity. Two internally reliable scales, Active Coping and Passive Coping, were derived using factor analytic techniques from a sample of 361 rheumatoid arthritis patients. The 2 scales showed an opposite pattern of relationships with criterion measures. While Active Coping was associated with reports of less pain, less depression, less functional impairment, and higher general self-efficacy, Passive Coping was correlated with reports of greater depression, greater pain and flare-up activity, greater functional impairment, and lower general self-efficacy. The relationship of these scales to previous theory and research on coping is presented. These scales appear useful for the assessment of coping strategies in clinical settings and in treatment outcome research on chronic pain.

Procedure Guideline for Tumor Imaging with 18F-FDG PET/CT 1.0

Abstract: The purpose of these guidelines is to assist physicians in recommending, performing, interpreting, and reporting the results of 18F-FDG PET/CT for oncologic imaging of adult and pediatric patients. PET is a tomographic scintigraphic technique in which a computer-generated image of local radioactive

Replication fork stability confers chemoresistance in BRCA-deficient cells

Abstract: Cells deficient in the Brca1 and Brca2 genes have reduced capacity to repair DNA double-strand breaks by homologous recombination and consequently are hypersensitive to DNA-damaging agents, including cisplatin and poly(ADP-ribose) polymerase (PARP) inhibitors. Here we show that loss of the MLL3/4 complex protein, PTIP, protects Brca1/2-deficient cells from DNA damage and rescues the lethality of Brca2-deficient embryonic stem cells. However, PTIP deficiency does not restore homologous recombination activity at double-strand breaks. Instead, its absence inhibits the recruitment of the MRE11 nuclease to stalled replication forks, which in turn protects nascent DNA strands from extensive degradation. More generally, acquisition of PARP inhibitors and cisplatin resistance is associated with replication fork protection in Brca2-deficient tumour cells that do not develop Brca2 reversion mutations. Disruption of multiple proteins, including PARP1 and CHD4, leads to the same end point of replication fork protection, highlighting the complexities by which tumour cells evade chemotherapeutic interventions and acquire drug resistance.