ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively.

Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease in childhood and has a significant risk of rapid progression to end-stage renal disease. The identification of over 50 monogenic causes of SRNS has revealed dysfunction in podocyte-associated proteins in the pathogenesis of proteinuria, highlighting their essential role in glomerular function. Recent technological advances in high-throughput sequencing have enabled indication-driven genetic panel testing for patients with SRNS.

An inducible mouse model of podocin-mutation-related nephrotic syndrome.

Mutations in the NPHS2 gene, encoding podocin, cause hereditary nephrotic syndrome. The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease. Knock-in mice carrying a R140Q mutation, the mouse analogue of human R138Q, show developmental arrest of podocytes and lethal renal failure at neonatal age.

Benefits of Cardiac Rehabilitation on Cardiovascular Outcomes in Patients With Diabetes Mellitus After Percutaneous Coronary Intervention.

Background: Participation in cardiac rehabilitation (CR) is an essential component of care for patients with coronary artery disease. However, little is known about its benefit on cardiovascular outcomes in patients with diabetes mellitus (DM) who have undergone percutaneous coronary intervention. The aim of our study was to evaluate the impact of CR in this high-risk group of patients.

The experiences of being a registered nurse prescriber within an acute service setting.

Aims And Objectives: To explore the experiences of nurse prescribers in an acute service setting.

Design: A descriptive phenomenological design underpinned by Husserl's philosophy was used as the guiding framework.

Methods: Data were collected using semistructured interviews and purposive sampling of 11 current registered nurse prescribers from two acute hospitals.

Prolonged exposure of mouse and human podocytes to insulin induces insulin resistance through lysosomal and proteasomal degradation of the insulin receptor.

Aims/hypothesis: Podocytes are insulin-responsive cells of the glomerular filtration barrier and are key in preventing albuminuria, a hallmark feature of diabetic nephropathy. While there is evidence that a loss of insulin signalling to podocytes is detrimental, the molecular mechanisms underpinning the development of podocyte insulin resistance in diabetes remain unclear. Thus, we aimed to further investigate podocyte insulin responses early in the context of diabetic nephropathy.

Prevalence of diastolic function and clinical impact on long-term outcome in takotsubo cardiomyopathy.

Background: Takotsubo cardiomyopathy (TTC) is a syndrome characterized by transient regional systolic dysfunction of the left ventricle (LV). However, far fewer reports focused on the prevalence of left ventricular diastolic function (DF) and its impact on an adverse prognosis in TTC.

Methods: From January 2005 to October 2014, 205 consecutive TTC patients (mean age, 70±12years; 95% female) were studied.

PLAR binds to the annexin A2-S100A10 complex in human podocytes.

Phospholipase A receptor (PLAR) is a member of the mannose receptor family found in podocytes in human kidney. PLAR is the target of the autoimmune disease, membranous nephropathy, characterised by production of anti-PLAR autoantibodies which bind to the podocyte. However the function of PLAR in health and in disease remains unclear.

High-sensitivity C-reactive protein is an independent marker of abnormal coronary vasoreactivity in patients with non-obstructive coronary artery disease.

Background: Coronary endothelial dysfunction (CED) is an early stage of atherosclerosis and is associated with adverse cardiovascular events. Inflammation may play a role in the development of endothelial dysfunction. To date no study has evaluated the relationship between C-reactive protein and CED.

Be on alert for pediatric AKI.

Acute kidney injury in children is associated with adverse outcomes, although much of our current understanding originates from studies in intensive care units. Holmes et al. used an automated acute kidney injury detection method to obtain epidemiologic data on pediatric acute kidney injury at a national level in outpatient, inpatient, and intensive care unit settings.

Multiarterial grafts improve the rate of early major adverse cardiac and cerebrovascular events in patients undergoing coronary revascularization: analysis of 12 615 patients with multivessel disease.

Objectives: Our goal was to compare the rates of in-hospital and 30-day major adverse cardiac and cerebrovascular events (MACCE) including death, stroke, myocardial infarction and repeat revascularization in patients with multivessel disease undergoing multiarterial (MultArt) coronary artery bypass grafting (CABG) with the left internal mammary artery/saphenous vein (LIMA/SV) CABG or percutaneous coronary intervention (PCI).

Methods: From 1 January 1993 to 31 December 2009, 12 615 consecutive patients underwent isolated primary CABG (n = 6667) with LIMA/SV (n = 5712) or MultArt (n = 955) or were treated by PCI (n = 5948) with balloon angioplasty (n = 1020), bare metal stent (n = 3242), and drug-eluting stent (n = 1686). We excluded patients with acute myocardial infarction.

Digital health intervention during cardiac rehabilitation: A randomized controlled trial.

Background: Digital health interventions (DHI) have been shown to improve intermediates of cardiovascular health, but their impact on cardiovascular (CV) outcomes has not been fully explored. The aim of this study was to determine whether DHI administered during cardiac rehabilitation (CR) would reduce CV-related emergency department (ED) visits and rehospitalizations in patients after percutaneous coronary intervention (PCI) for acute coronary syndrome (ACS).

Methods: We randomized patients undergoing CR following ACS and PCI to standard CR (n=40) or CR+DHI (n=40) for 3 months with 3 patients withdrawing from CR prior to initiation in the treatment arm and 6 in the control group.

Percutaneous revascularization in patients treated with thoracic radiation for cancer.

Objectives: To assess coronary revascularization outcomes in patients with previous thoracic radiation therapy (XRT).

Background: Previous chest radiation has been reported to adversely affect long term survival in patients with coronary disease treated with percutaneous coronary interventions (PCI).

Methods: Retrospective, single center cohort study of patients previously treated with thoracic radiation and PCI.

Does milk intake promote prostate cancer initiation or progression via effects on insulin-like growth factors (IGFs)? A systematic review and meta-analysis.

Purpose: To establish whether the association between milk intake and prostate cancer operates via the insulin-like growth factor (IGF) pathway (including IGF-I, IGF-II, IGFBP-1, IGFBP-2, and IGFBP-3).

Methods: Systematic review, collating data from all relevant studies examining associations of milk with IGF, and those examining associations of IGF with prostate cancer risk and progression. Data were extracted from experimental and observational studies conducted in either humans or animals, and analyzed using meta-analysis where possible, with summary data presented otherwise.

Information retention among attendees at a traditional poster presentation session.

No abstract available.

The Effects of Extensive Glomerular Filtration of Thin Graphene Oxide Sheets on Kidney Physiology.

Understanding how two-dimensional (2D) nanomaterials interact with the biological milieu is fundamental for their development toward biomedical applications. When thin, individualized graphene oxide (GO) sheets were administered intravenously in mice, extensive urinary excretion was observed, indicating rapid transit across the glomerular filtration barrier (GFB). A detailed analysis of kidney function, histopathology, and ultrastructure was performed, along with the in vitro responses of two highly specialized GFB cells (glomerular endothelial cells and podocytes) following exposure to GO.

Cancer History Portends Worse Acute and Long-term Noncardiac (but Not Cardiac) Mortality After Primary Percutaneous Coronary Intervention for Acute ST-Segment Elevation Myocardial Infarction.

Objective: To define the effect of a history of cancer on in-hospital and long-term mortality after primary percutaneous coronary intervention (PCI) for ST-segment elevation myocardial infarction (STEMI).

Patients And Methods: In this retrospective cohort study of 2346 patients with STEMI enrolled in the Mayo Clinic PCI registry from November 1, 2000, through October 31, 2010, we identified 261 patients (11.1%) with a history of cancer.

Effect of Low-Dose Rapamycin on Senescence Markers and Physical Functioning in Older Adults with Coronary Artery Disease: Results of a Pilot Study.

Rapamycin, an mTOR inhibitor affects senescence through suppression of senescence-associated secretory phenotype (SASP). We studied the safety and feasibility of low-dose rapamycin and its effect on SASP and frailty in elderly undergoing cardiac rehabilitation (CR). 13 patients; 6 (0.

Circulating osteogenic endothelial progenitor cell counts: new biomarker for the severity of coronary artery disease.

Background: There is increasing evidence implying that the early and functionally highly active circulating endothelial progenitor cell (CEPC) phenotype (CD34-/CD133+/KDR+) with osteogenic potential (OCN+) might link between vascular atherosclerotic calcification and mechanisms of bone metabolism. We sought to evaluate the early OCN+ CEPC counts as an independent biomarker for the severity of coronary artery disease (CAD).

Methods: Peripheral blood samples were drawn from 593 patients undergoing clinically indicated coronary angiography.

Low Body Mass Index, Serum Creatinine, and Cause of Death in Patients Undergoing Percutaneous Coronary Intervention.

Background: Low body mass index (BMI) and serum creatinine are surrogate markers of frailty and sarcopenia. Their relationship with cause-specific mortality in elderly patients undergoing percutaneous coronary intervention is not well studied.

Methods And Results: We determined long-term cardiovascular and noncardiovascular mortality in 9394 consecutive patients aged ≥65 years who underwent percutaneous coronary intervention from 2000 to 2011.

Three-dimensional electron microscopy reveals the evolution of glomerular barrier injury.

Glomeruli are highly sophisticated filters and glomerular disease is the leading cause of kidney failure. Morphological change in glomerular podocytes and the underlying basement membrane are frequently observed in disease, irrespective of the underlying molecular etiology. Standard electron microscopy techniques have enabled the identification and classification of glomerular diseases based on two-dimensional information, however complex three-dimensional ultrastructural relationships between cells and their extracellular matrix cannot be easily resolved with this approach.

Antithrombotic Approaches in Acute Coronary Syndromes: Optimizing Benefit vs Bleeding Risks.

It is estimated that in the United States, each year, approximately 620,000 persons will experience an acute coronary syndrome and approximately 70% of these will have non-ST-elevation acute coronary syndrome. Cardiovascular disease still accounts for 1 of every 3 deaths in the United States, and there is an urgent need to improve the prognosis of patients presenting with acute coronary syndrome. Cardiovascular mortality and ischemic complications are common after acute coronary syndrome, and the advent of newer antithrombotic therapies has reduced ischemic complications, but at the expense of greater bleeding.