Genes disrupted in schizophrenia may be revealed by de novo mutations in affected persons from otherwise healthy families. Furthermore, during normal brain development, genes are expressed in patterns specific to developmental stage and neuroanatomical structure. We identified de novo mutations in persons with schizophrenia and then mapped the responsible genes onto transcriptome profiles of normal human brain tissues from age 13 weeks gestation to adulthood.
View Article and Find Full Text PDFBackground: Genome-wide association studies (GWAS) implicate single nucleotide polymorphisms (SNPs) on chromosome 6p21.3-22.1, the human leukocyte antigen (HLA) region, as common risk factors for schizophrenia (SZ).
View Article and Find Full Text PDFCommunity Ment Health J
February 2013
The Alabama Coalition for a Healthier Black was a demonstration of concept project. This paper is a descriptive and qualitative overview of this 2.5 year project.
View Article and Find Full Text PDFObjective: Neurocognitive impairments in schizophrenia are well replicated and widely regarded as candidate endophenotypes that may facilitate understanding of schizophrenia genetics and pathophysiology. The Project Among African-Americans to Explore Risks for Schizophrenia (PAARTNERS) aims to identify genes underlying liability to schizophrenia. The unprecedented size of its study group (N=1,872), made possible through use of a computerized neurocognitive battery, can help further investigation of the genetics of neurocognition.
View Article and Find Full Text PDFPaxbeta is a novel gene family restricted to the bilaterian superphylum Lophotrochozoa. The Paxbeta paired domain is highly diverged from other bilaterian Pax genes, and we were unable to identify an unambiguous sister-group by phylogenetic sequence analysis. However, conservation of a paired domain intron suggests that the Paxbeta genes arose by duplication and divergence from an ancestral Pax2/5/8 gene.
View Article and Find Full Text PDFWe report the expression of Hunchback (Hb)-like protein during embryonic and larval development in two caenogastropods, Crepidula fornicata and Ilyanassa obsoleta. During the cleavage stages of these species, Hb-like protein is uniformly expressed in micromere and macromere nuclei. At gastrulation, gastropod Hb-like protein is expressed in the surface epithelium that undergoes epiboly.
View Article and Find Full Text PDFObjective: Many high-risk patients with severe symptomatic aortic stenosis are not referred for surgical aortic valve replacement. Although this patient population remains ill-defined, many of these patients are now being referred for percutaneous aortic valve replacement. We sought to define the characteristics and outcomes of patients referred for percutaneous aortic valve replacement.
View Article and Find Full Text PDFAnesthesiol Clin
March 2009
Procedures and interventions in the cardiac catheterization laboratory (CCL) and electrophysiology laboratory (EPL) are more complex and involve acutely ill patients. Safely caring for this growing patient population in the CCL and EPL is now a concern for all anesthesiologists and cardiologists. Anesthesiologists are uniquely trained to care for this complex patient population, allowing the cardiologist to focus on completing the interventional procedure successfully.
View Article and Find Full Text PDFJ Cardiothorac Vasc Anesth
August 2009
Objectives: The primary objective of this study was to analyze perioperative intra-aortic balloon pump (IABP) insertion in patients undergoing cardiac surgery in the authors' institution from 1995 to 2005 and to propose an explanation for changes in use over this period. A secondary objective was to assess patient variables associated with IABP use.
Design: This is a retrospective study including patients who underwent cardiac surgery between 1995 and 2005.
The Project among African-Americans to Explore Risks for Schizophrenia (PAARTNERS) is a multi-site, NIMH-funded study that seeks to identify genetic polymorphisms that confer susceptibility to schizophrenia among African-Americans by linkage mapping and targeted association analyses. Because deficits in certain dimensions of cognitive ability are thought to underlie liability to schizophrenia, the project also examines cognitive abilities in individuals affected by schizophrenia and their extended family members. This article describes PAARTNERS study design, ascertainment methods and preliminary sample characteristics.
View Article and Find Full Text PDFIncreased use of left ventricular assist devices (LVAD) as bridges to transplant has revealed the need for short-term right heart support for deairing and right ventricular recovery. The two approaches described are implemented as the patient is weaned from regular cardiopulmonary bypass. Dependent on patient needs, the surgeon may select a high-flow or low-flow approach to what is essentially right heart bypass.
View Article and Find Full Text PDFCommunity Ment Health J
June 2003
Current conceptualizations of schizophrenia include neurocognitive impairment, particularly in aspects of attention, memory, and executive functioning. Evaluation of these cognitive abilities typically involves use of comprehensive batteries which may take up to six hours to complete. The current study examined the effectiveness of a briefer battery to detect cognitive impairments usually seen in schizophrenia as established by previous studies using more lengthy and labor intensive protocols.
View Article and Find Full Text PDFThe early expression patterns of hunchback protein (T-hb protein) were examined in the oligochaete Tubifex, using an antibody raised to the LZF2 protein in leech. This antibody recognizes a 60-kDa polypeptide in the Tubifex embryo. Before teloblastogenesis, T-hb protein is expressed in every cleavage-stage blastomere.
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