Category Archives: Batten Disease Treatment

Our understanding of the mechanisms controlling tissue repair and organ regeneration following injury has increased greatly over the past decade. Nevertheless, there has been little progress translating basic science discoveries into clinical practice. As our understanding of the unique roles of fibroblasts, macrophages, and stem and tissue progenitor cell populations are rapidly being elucidated, we expect new modalities to regulate tissue repair, regeneration, and fibrosis will soon be evaluated in clinical trials. Recent advances include differentiation of pluripotent stem cells (embryonic and induced) into hepatic, intestinal, cardiac, and pancreatic cells that may be used to replace defective cells and mend injured tissues. We also have an emerging understanding of the role of the immune system and how persistent recruitment and activation of specific cell types can promote chronic wounds, guide organ regeneration, or contribute to the development of pathological fibrosis. The goal of this meeting is to bring together academic researchers, clinicians, and members of the pharmaceutical industry to discuss the most recent advances in the fields of tissue repair, organ regeneration and fibrosis and to identify key roadblocks that are slowing progress in each of these important areas. By bringing together a diverse group of researchers interested in all … Continue reading →

Last month was designated American Heart Month to raise awarenessof cardiovascular disease, the leading fatality of Americans. AHA encouragesour patients to take control over understanding their risk factors of heart disease including knowing their numbers related to blood pressure. Untreated hypertension can have a long-term effect on the heart causing hypertensive heart disease, which can include coronary heart disease (CAD), left ventricular hypertrophy (LVH) and hypertrophic cardiomyopathy (HCM). Echocardiography plays a major role in the prognostic evaluation of hypertension (HTN). The main contribution of echo in the management of hypertension is the assessment of left ventricular mass (LVM). In this blog we describe left ventricular hypertrophy (LVH) and identify the different categories of concentric, eccentric and concentric remodeling. In Part 2 of the blog we will elaborate on LV Mass (LVM) and Relative Wall Thickness (RWT). We will provide step-by-step instructions on how to obtain these values during a routine echocardiogram. Left ventricular hypertrophy is a form of cardiac remodeling that causes the heart wall muscle to thicken, which leads to an increase in LV mass (LVM). There are different sub-categories that fall into the diagnosis of LVH, which includes concentric, eccentric and concentric remodeling. There are key factors that … Continue reading →

Better outcomes for children with heart problems In this age of high-tech medicine, listening to a child's heart is still a critical tool for finding problems. Listening to your questions and concerns is also a vital part of our commitment to your family. Heart conditions in children are typically different than those in adults. Our pediatric cardiologists diagnose and treat more children than any other hospital in our region. We coordinate care with your child's doctor and support your family from initial consultation to follow-up care. Your access to experts includes same-day or next-day consultations for urgent needs. Call (615) 322-7447 for appointments at all of our heart care locations. Children's Hospital has been named an accredited center of care by the Children's Cardiomyopathy Foundation (CCF), a national non-profit committed to improving health outcomes and quality of life for children with cardiomyopathy. We have received this recognition for consistently providing high-quality cardiac care and specialized disease management. We handle a full range of heart conditions, from second opinions on heart murmurs to heart surgery and heart transplants. Some of the conditions we diagnose and treat include: Our heart surgery and heart transplant program are among the most experienced and highly … Continue reading →

In order to understand how cardiac rhythm abnormalities occur and how different treatments can be effective, it is firstly important to appreciate how the normal heart works. To put it very simply, the heart has only one function and that is to maintain a continuous and adequate flow of blood around the body. Blood is the vehicle for delivering oxygen and nutrition to all the vital organs. Some organs such as the brain are extremely sensitive to deprivation from oxygen and glucose. If there is a disruption to blood supply for more than a few minutes irreversible damage may occur. The heart is a simple muscular pump that contracts every few seconds. There arefour cardiac chambers andfour major heart valves. Blood flows from the top atrial chambers to the lower ventricular muscular pumping chamber. The heart valves ensure that blood travel in a single direction only. Like many mechanical pumps the heart is controlled by electrical circuitry. An inbuilt pacemaker (sino atrial node) initiates an impulse that sends a wave of electricity over the muscle to make it contract. The impulse is then passed onto a middle relay station (the AV node), this is normally the only thread of connection … Continue reading →

More than six million Americans live with an abnormal (often rapid or irregular) heartbeat called an arrhythmia. NewYork-Presbyterian is a leader in the control of arrhythmias, offering the latest diagnostic techniques and treatments to patients of all ages. Our treatments restore proper heart function and enable you to live a better quality of life by reducing your symptoms. We offer a range of treatment options for arrhythmias, including medication, catheter ablation, implanted devices, and surgery. When you come to us for your care, you benefit from our exceptional expertise in this area. You'll have access to all the experts needed for your care, including cardiologists, heart surgeons, and other specialists with expertise in the care of people with irregular heartbeat. We use the latest electrophysiology tests, heart imaging techniques, and other exams to identify the cause and location of your arrhythmia with precision. This knowledge enables us to put together a customized plan of care designed just for you. We may correct your arrhythmia using medication or catheter ablation, in which we interrupt the path of the abnormal electrical impulses in your heart, curing your arrhythmia. NewYork-Presbyterian is home to one of the largest programs for the implantation of devices … Continue reading →

Interventional radiology Balloon dilatation of the stenosed internal jugular vein (photo from an X-ray angiograph monitor). While pressure in the balloon is relatively low, stenosis prevents the balloon from inflating in the middle. Further increase in pressure will dilate the narrowing and restore the full blood flow. Interventional radiology (IR), sometimes known as vascular and interventional radiology (VIR), is a medical specialty which provides minimally invasive image-guided diagnosis and treatment of disease. Although the range of procedures performed by interventional radiologists is broad, the unifying concept behind these procedures is the application of image guidance and minimally invasive techniques in order to minimize risk to the patient. Training for interventional radiology occurs in the residency portion of medical education, and has gone through developments. In 2000, the Society of Interventional Radiology (SIR) created a program named "Clinical Pathway in IR", which modified the "Holman Pathway" that was already accepted by the American Board of Radiology to including training in IR; this was accepted by ABR but was not widely adopted. In 2005 SIR proposed and ABR accepted another pathway called "DIRECT (Diagnostic and Interventional Radiology Enhanced Clinical Training) Pathway" to help trainees coming from other specialities learn IR; this too … Continue reading →

Good morning happy summer Lindsay and Ken Great news yesterday I passed my Peds Echo boards. Thank you both for the encouragement and very educational useful study tools! Sincerely Lanett Eddy, RDCS, AE,PE Ken Heidens Congenital Heart Defects, Simplified does for congenital heart disease what a map does for your road trip. Complex defects are laid out simply and logically, with well-executed artwork that makes this otherwise bewilderingly complicated field accessible, even to the non-expert. It is readable enough for any health professional to learn about this topic for the first time or to use as a refresher. It can also serve as a concise, crystal-clear bedside reference for the busy echocardiographer. William Davis, MD Author of Track Your Plaque: The only heart disease prevention program that shows how the new CT heart scans can be used to detect, track, and control coronary plaque Congenital Heart Defects, Simplified is destined to become the reference book for neonatal and pediatric units. The major defects are covered completely and succinctly in bullet format. The color illustrations help enormously in the understanding of each heart or vascular defect. These illustrations not only help clarify the issue for RNs, but they are also an … Continue reading →

The United Kingdom National External Quality Assessment Services (UK NEQAS) for Molecular Genetics provides external quality assessment for a range of inherited diseases and acquired disorders currently tested in diagnostic molecularlaboratories. UK NEQAS for Molecular Genetics gives objective information and advice to clinical laboratories throughout laboratory molecular medicine on the quality of their analytical and interpretative performance, in order to help them provide accurate and reliable test results and advice to clinicians, which facilitates optimal patient care. Advances in our understanding of genetic diseases has led to a revolution in testing technologies. UK NEQAS for Molecular Genetics is committed to providing external quality assessment in this rapidly evolving field. The Scheme was granted unconditional accreditation by Clinical Pathology Accreditation in January 2001 until March 2016. The Scheme has been granted UK Accreditation Service (UKAS) accredititaion to ISO 17043 in March, 2016 and the scope can be accessed athttp://www.ukas.com/wp-content/uploads/schedule_uploads/00013/8505Proficiency%20Testing%20Multiple.pdf In addition to external quality assessment (EQA) for Molecular Genetics and Molecular Pathology, theEdinburgh centre also provides EQA for Peptidehormones, Tumourmarkers, Pregnancy testing and Maternal serum screening see http://edqas.org/ NHS Lothian operating UK NEQAS for Molecular Genetics.UK NEQAS for Molecular Genetics is a member of the United Kingdom National ExternalQuality Assessment Service … Continue reading →

A note about pre-requisite learning: A clear understanding of human acid-base physiology is necessary before you begin this learning activity An introduction to acid-base imbalances will facilitate your understanding of the contents within this tutorial. Upon completion of this learning activity, you will be able to orecognize clinical manifestations associated with acid-base imbalances. omatch pH values with acid-base imbalances. oselect the correct answer following the review of each case study. ocompare and contrast the step-wise assessment of determining the acid-base balance of the blood. oidentify the appropriate etiology of metabolic acidosis/alkalosis and respiratory acidosis/alkalosis. odifferentiate between compensatory and non-compensatory ABG changes. Sometimes reading and deciphering Arterial Blood Gases (ABGs) can be a challenge! I have provided an interactive online tutorial for your review. Arterial blood gas values reflect ventilation and acid-base balance. The results include the arterial blood pH (concentration of hydrogen ions in the blood) , partial pressure of carbon dioxide (PaCO2) dissolved in the arterial plasma, and the concentration of sodium bicarbonate (HCO3-) in the blood. Our bodies regulate an acid-base balance through a "buffer system." This buffer system neutralizes acids. There are three buffer systems that exist for the maintenance of our acid-base equilibrium: a buffer system … Continue reading →

Overview Cardiac catheterization (kath-uh-tur-ih-ZAY-shun) is a procedure used to diagnose and treat cardiovascular conditions. During cardiac catheterization, a long thin tube called a catheter is inserted in an artery or vein in your groin, neck or arm and threaded through your blood vessels to your heart. Using this catheter, doctors can then do diagnostic tests as part of a cardiac catheterization. Some heart disease treatments, such as coronary angioplasty, also are done using cardiac catheterization. Usually, you'll be awake during cardiac catheterization, but given medications to help you relax. Recovery time for a cardiac catheterization is quick, and there's a low risk of complications. Mayo Clinic's approach Cardiac catheterization is done to see if you have a heart problem, or as a part of a procedure to correct a heart problem your doctor already knows about. If you're having cardiac catheterization as a test for heart disease, your doctor can: Cardiac catheterization is also used as part of some procedures to treat heart disease. These procedures include: Angioplasty with or without stent placement. Angioplasty involves temporarily inserting and expanding a tiny balloon at the site of your blockage to help widen a narrowed artery. Angioplasty is usually combined with implantation … Continue reading →