261 results match your criteria: "C.R.B.; and The Ohio State University[Affiliation]"

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Circ Res

February 2019

From the Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine, and Health, Manchester Academic Health Science Centre, University of Manchester, United Kingdom (D.J.P., S.G.W., R.M.M., E.F., B.D.K.).

Article Synopsis
  • - Familial recurrence studies suggest a genetic link to sporadic, nonsyndromic Tetralogy of Fallot (TOF), a major type of congenital heart defect, but limited research exists on a larger scale.
  • - The study analyzed 829 TOF patients through whole exome sequencing, revealing significant unique, harmful genetic variants, particularly in the NOTCH1 and FLT4 genes, which could contribute to the disease.
  • - A total of 4.5% of cases had deleterious NOTCH1 variants, and further investigations indicated impaired NOTCH signaling in some variants, while FLT4 variants occurred in 2.4% of patients, highlighting potential genetic factors involved in TOF.
View Article and Find Full Text PDF

The Effect of Small Doses of Fructose and Its Epimers on Glycemic Control: A Systematic Review and Meta-Analysis of Controlled Feeding Trials.

Nutrients

November 2018

Toronto 3D (Diet, Digestive Tract, and Disease) Knowledge Synthesis and Clinical Trials Unit, Clinical Nutrition and Risk Factor Modification Centre, St. Michael's Hospital, Toronto, ON M5C 2T2, Canada.

Contrary to the concerns that fructose may have adverse metabolic effects, an emerging literature has shown that small doses (≤10 g/meal) of fructose and its low-caloric epimers (allulose, tagatose, and sorbose) decrease the glycemic response to high glycemic index meals. Whether these acute reductions manifest as sustainable improvements in glycemic control is unclear. Our objective was to synthesize the evidence from controlled feeding trials that assessed the effect of small doses of fructose and its low-caloric epimers on glycemic control.

View Article and Find Full Text PDF

Background Gastrointestinal bleeding from angiodysplasia is a major problem in continuous-flow left ventricular assist device (LVAD) patients. LVAD shear stress causes pathologic degradation of VWF (von Willebrand factor). A mechanistic relationship between VWF degradation and angiodysplasia has not been explored.

View Article and Find Full Text PDF

Immobilized enzyme-based analytical tools in the -omics era: Recent advances.

J Pharm Biomed Anal

October 2018

Department of Pharmacy and Biotechnology, Alma Mater Studiorum - University of Bologna, Via Belmeloro 6, 40126 Bologna, Italy. Electronic address:

Protein analysis is a field under rapid development mainly thanks to technological advances which have granted miniaturization of analytical devices, automation and higher detection sensitivity. The interest in the field has paralleled the expansion of the -omics era, laying down the bases for the current applications in proteomics and glycomics. Advances in protein sample transformation prior to analysis have led to reduction of sample consumption and contamination, enhancing throughput.

View Article and Find Full Text PDF

Unlabelled: Recent literature suggests that catalytic doses (≤10 g/meal or 36 g/day) of D-fructose and D-allulose may reduce postprandial blood glucose responses to carbohydrate loads in people with and without type 2 diabetes by inducing glycogen synthesis. To assess the effect of small single doses of fructose and allulose on postprandial blood glucose regulation in response to a 75 g-oral glucose tolerance test (75 g-OGTT) in healthy individuals, we conducted an acute randomized, crossover, equivalence trial in healthy adults. Each participant randomly received six treatments, separated by a minimum one-week washout.

View Article and Find Full Text PDF

Numerous studies support the protective role of bioactive peptides against cardiovascular diseases. Cereals represent the primary source of carbohydrates, but they also contain substantial amounts of proteins, therefore representing a potential dietary source of bioactive peptides with nutraceutical activities. The analysis of wheat extracts purified by chromatographic techniques by means of HPLC-UV/nanoLC-nanoESI-QTOF allowed the identification of a signal of about 7 kDa which, following data base searches, was ascribed to a nonspecific lipid-transfer protein (nsLTP) type 2 from Triticum aestivum (sequence coverage of 92%).

View Article and Find Full Text PDF

Objectives: Chronic intestinal pseudo-obstructive (CIPO) conditions are considered the most severe disorders of gut motility. They continue to present significant challenges in clinical care despite considerable recent progress in our understanding of pathophysiology, resulting in unacceptable levels of morbidity and mortality. Major contributors to the disappointing lack of progress in paediatric CIPO include a dearth of clarity and uniformity across all aspects of clinical care from definition and diagnosis to management.

View Article and Find Full Text PDF

Salivary cortisol and cortisone responses to short-term psychological stress challenge in late adolescent and young women with different hyperandrogenic states.

Psychoneuroendocrinology

May 2018

Endocrinology Unit, Department of Medical and Surgical Sciences, Centre for Applied Biomedical Research (C.R.B.A.), S. Orsola-Malpighi Hospital, Alma Mater University of Bologna, Bologna, Italy. Electronic address:

Hyperandrogenic disorders have been associated with psychological distress, reduced quality of life, anxiety and depression. The hypothalamic-pituitary-adrenal (HPA) axis plays a pivotal role in the adaptive response to stressor events. Salivary cortisol (SalF) and cortisone (SalE) testing have been proven to be useful in the evaluation of HPA-axis activity.

View Article and Find Full Text PDF

Tuberculosis (TB) is the leading cause of death from an infectious bacterial disease. Poor diagnostic tools to detect active disease plague TB control programs and affect patient care. Accurate detection of live (Mtb), the causative agent of TB, could improve TB diagnosis and patient treatment.

View Article and Find Full Text PDF

Oral fluid (OF) is a highly effective substrate for population-based HIV screening efforts, as it is noninfectious and significantly easier to collect than blood. However, anti-HIV antibodies are found at far lower concentrations in OF compared with blood, leading to poor sensitivity and a longer period of time from infection to detection threshold. Thus, despite its inherent advantages in sample collection, OF is not widely used for population screening.

View Article and Find Full Text PDF

BACKGROUND The persisting organ shortage in the field of transplantation recommends the use of marginal kidneys which poorly tolerate ischemic damage. Adenosine triphosphate (ATP) depletion during cold ischemia time (CIT) is considered crucial for graft function. We tested different strategies of kidney perfusion before transplantation in the attempt to improve the technique.

View Article and Find Full Text PDF

Identifying follicular lymphoma (FL) patients with preexisting antitumor immunity will inform precision medicine strategies for novel cancer immunotherapies. Using clinical and genomic data from 249 FL patients, we determined the clinical impact of mutation load and an effector T-cell (T) gene signature as proxies for the likelihood of a functional immune response. The FL mutation load estimate varied between 0 and 33 mutations per Mb (median, 6.

View Article and Find Full Text PDF

Twenty-Seven Ways a Heat Wave Can Kill You: Deadly Heat in the Era of Climate Change.

Circ Cardiovasc Qual Outcomes

November 2017

From the Department of Geography, University of Hawai'i at Mānoa, Honolulu, HI (C.M.); Hawai'i Institute of Marine Biology, University of Hawai'i at Mānoa, Kāne'ohe, HI (C.W.W.C.); School of Forestry and Environmental Studies, Yale University, New Haven, CT (C.R.B.); and Department of Natural Resources, Cornell University, Fernow Hall, Ithaca, NY (L.V.L.).

View Article and Find Full Text PDF

An important goal of vaccination against viruses and virus-driven cancers is to elicit cytotoxic CD8 T cells specific for virus-derived peptides. CD8 T cell responses can be enhanced by engaging help from natural killer T (NKT) cells. We have produced synthetic vaccines that induce strong peptide-specific CD8 T cell responses in vivo by incorporating an NKT cell-activating glycolipid.

View Article and Find Full Text PDF

Evaluation of the Selectivity and Cysteine Dependence of Inhibitors across the Regulator of G Protein-Signaling Family.

Mol Pharmacol

January 2018

Department of Pharmaceutical Sciences and Experimental Therapeutics University of Iowa (M.P.H., C.R.B., D.L.R.) and Cancer Signaling and Experimental Therapeutics Program, Holden Comprehensive Cancer Center, University of Iowa Hospitals and Clinics (D.L.R.), Iowa City, Iowa

Since their discovery more than 20 years ago, regulators of G protein-signaling (RGS) proteins have received considerable attention as potential drug targets because of their ability to modulate G activity. Efforts to identify small molecules capable of inhibiting the protein-protein interactions between activated G subunits and RGS proteins have yielded a substantial number of inhibitors, especially toward the well studied RGS4. These efforts also determined that many of these small molecules inhibit the protein-protein interactions through covalent modification of cysteine residues within the RGS domain that are located distal to the G-binding interface.

View Article and Find Full Text PDF

Comparison between small bowel manometric patterns and full-thickness biopsy histopathology in severe intestinal dysmotility.

Neurogastroenterol Motil

March 2018

Departments of Medical and Surgical Sciences and Digestive System, Centro di Ricerca Biomedica Applicata (C.R.B.A.), University of Bologna, St. Orsola-Malpighi Hospital, Bologna, Italy.

Background: Intestinal manometry is the current standard for direct evaluation of small bowel dysmotility. Patients with abnormal motility can either be diagnosed of pseudo-obstruction when there are radiological findings mimicking mechanical intestinal obstruction or of enteric dysmotility when these findings are absent. The aim of the present study was to prospectively compare small bowel manometric abnormalities with histopathological findings in intestinal full-thickness biopsies in patients with severe dysmotility disorders.

View Article and Find Full Text PDF

Accesses for alcohol intoxication to the emergency department and the risk of re-hospitalization: An observational retrospective study.

Addict Behav

February 2018

Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Italy; Center for Applied Biomedical Research (C.R.B.A.), S.Orsola-Malpighi University Hospital, Bologna, Italy; "G. Fontana" Centre for the Study and Multidisciplinary Treatment of Alcohol Addiction, Department of Medical and Surgical Sciences, University of Bologna, Italy. Electronic address:

Background: Alcohol use disorders (AUD) are a frequent cause of admission to emergency departments (EDs) for acute alcohol intoxication (AAI). Patients with AUD present a higher risk of readmission to EDs for AAI than the general population, however, the distinction between sporadic AAI and AAI in the context of AUD in the ED setting is difficult.

Aims: To analyze the epidemiological characteristics of patients admitted to EDs because of AAI and to identify factors associated with repeated admissions in order to develop a risk stratification system for patients with AUD based on objective data that can be easily applied in an ED setting.

View Article and Find Full Text PDF

Background Aims: Growing evidence supports the therapeutic potential of bone marrow (BM)-derived stem/progenitor cells for end-stage liver disease (ESLD). We recently demonstrated that CD133 stem/progenitor cell (SPC) reinfusion in patients with ESLD is feasible and safe and improve, albeit transiently, liver function. However, the mechanism(s) through which BM-derived SPCs may improve liver function are not fully elucidated.

View Article and Find Full Text PDF

Dissecting the Genetic Basis of the ECG as a Means of Understanding Mechanisms of Arrhythmia.

Circ Cardiovasc Genet

August 2017

From the Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, Amsterdam, The Netherlands (R.T., R.C., C.R.B.); and Department of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute and Université de Montréal, Quebec, Canada (R.T.).

View Article and Find Full Text PDF

Mystery Case: CNS posttransplant lymphoproliferative disorder.

Neurology

July 2017

From the Division of Vascular Neurology and Neurocritical Care, Department of Neurology (N.K.K., S.S., A.M.K., W.C., C.P.V.R., J.I.S.), and Department of Pathology (C.R.B.), Baylor College of Medicine, Houston, TX.

View Article and Find Full Text PDF

Continuous-Flow LVAD Support Causes a Distinct Form of Intestinal Angiodysplasia.

Circ Res

September 2017

From the MD/PhD Program, Vanderbilt University School of Medicine, Nashville, TN (J.K.); Division of Cardiovascular Surgery, Hospital of the University of Pennsylvania, Philadelphia (J.K., S.H.-S., C.A.B., M.A.A., P.A., C.R.B.); and The Ohio State University, Columbus (P.K., P.I.M.).

Rationale: The objective of this autopsy study was to determine whether gastrointestinal angiodysplasia develops during continuous-flow left ventricular assist device (LVAD) support.

Objective: LVAD support causes pathologic degradation of von Willebrand factor (vWF) and bleeding from gastrointestinal angiodysplasia at an alarming rate. It has been speculated that LVAD support itself may cause angiodysplasia.

View Article and Find Full Text PDF

The Brugada Syndrome Susceptibility Gene Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity.

Circ Res

August 2017

From the Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, Amsterdam, The Netherlands (C.C.V., S.P., R.T., E.M.L., I.M., L.B., A.A.M.W., R.C., A.O.V., C.A.R., C.R.B.); Department of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute, Canada (R.T.); Université de Montréal, Canada (R.T.); Department of Medical Biology, Academic Medical Center, Amsterdam, The Netherlands (B.d.J., R.W., B.J.B., A.O.V.); INSERM, CNRS, Université de Nantes, L'institut du Thorax, Nantes, France (J.B.); Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia (A.A.M.W.); and Electrophysiology and Heart Modeling Institute LIRYC, Université de Bordeaux, France (R.C.).

Rationale: Genome-wide association studies previously identified an association of rs9388451 at chromosome 6q22.3 (near ) with Brugada syndrome. The causal gene and underlying mechanism remain unresolved.

View Article and Find Full Text PDF

New α-adrenoreceptor (α-AR) antagonists related to prazosin and doxazosin were synthesized by replacing piperazine ring with (S)- or (R)-3-aminopiperidine. Binding studies indicated that the S configuration at the 3-C position of the piperidine ring is crucial for an optimal interaction of the compounds at all three α-AR subtypes. Quinazolines 9 and 10, bearing a quinone ring on the lateral chain, exhibited also potent antiproliferative activity in LNCaP androgen-sensitive prostate cancer cell lines, higher than that of doxazosin.

View Article and Find Full Text PDF

Pacing Discovery: G-Protein β Subunit Mutations in Sinus Node Dysfunction.

Circ Res

May 2017

From the Heart Center, Department of Clinical and Experimental Cardiology (E.M.L., A.O.V., C.R.B.) and Department of Medical Biology (A.O.V.), Academic Medical Center, Amsterdam, the Netherlands.

View Article and Find Full Text PDF