Living with a rare disease

Given the proximity of the World Rare Disease Day, which will be held this Friday (the 28th of February), we want to devote today’s post to analysing the situation of those patients suffering from a disease of this kind.

These diseases affect a very small number of people, although, to begin with, we must clarify how the difference in criteria varies from one country to another when classifying these diseases.

-        Diseases are considered rare in the U.S. when they affect less than 200,000 people. -        In Europe, diseases are considered to be rare when their prevalence is less than one case in 2,000 people. -        While in Japan it is considered a rare disease if it only affects up to 50,000 people. Regardless of this disparity of criteria, the real problem we find ourselves faced with is the need for all parties concerned to work jointly at a multinational level in search of solutions for this number of patients, which, globally, is not so insignificant. Implications of rare diseases The challenge for patients with Read more

Can a pulse oximeter detect a serious heart problem?

In the following video, Dr. William Scott, Pediatric Cardiologist at UT Southwestern Medical Center, Dallas (USA), provides more information on the topic.

The finger pulse (also known as pulse oximeter) is a simple and minimally invasive device, which through the light measures the oxygen content in the blood. A level which, if found in numbers significantly below 95%, may reveal a serious heart problem. The first few hours are critical in the case of heart conditions in newborn babies. Therefore, this simple test lasting only a matter of seconds, which is done on a baby’s finger can play a vital role when it comes to addressing the diagnosis and treatment of heart disease. Read more

Disease and genetic inheritance

Today we are going to comment on the Best Doctors Blog about the close relationship between some diseases and the genetic inheritance that parents pass on to their children through their genes.

It is safe to say that genes are the cornerstone of genetic inheritance, in so far as they contain our DNA, which in turn determines the instructions for making proteins in our body. Proteins carry out most of the functions within our cells: building structures, moving molecules and decomposing different types of toxins – to name but a few activities.

What is DNA? Deoxyribonucleic acid (abbreviated as DNA) is a nucleic acid whose content contains the genetic instructions used in the development of all living organisms that we know of. If we address the nature of the deoxyribonucleic acid molecule, we will find that its natural purpose is the long-term conservation of genetic information. As far as its structure is concerned, DNA takes the form of a double helix in which the information is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C) and thymine (T). Now that we have learnt a little more about what Read more