Weekly Rummors

A new or dierent
lifestyle
By Arianna Arias
Udocz-Assets.com, 2023,
cdn-v1.udocz-assets.com/uploads/book/cover/2121
40/malformaciones_congenitas_del_rn-d7244c3b36a
778d2a9c23dedae07de70.jpg.
Do you know what malformations are and
why do they occur? Well, they are
physical deformities or anomalies in our
body that are caused by an error in the
production and evolution of the
morphological characters. In some cases,
malformations are developed during
pregnancy. However, they are not always
present at birth since there are some
cases in which the child comes into the
world with an inactive gene and years
later, it “wakes up” and begins to affect
the person. It is important to mention
how we can avoid the risk of suffering a
malformation.
In first place, the mother and the father of
the baby must have a healthy life and
good medical care before and during
pregnancy. It is also advisable not to drink
alcohol, not to smoke, not to consume
illicit substances, maintain a healthy
weight, avoid some diseases such as
diabetes and hypertension, prevent
infections and have up-to-date
vaccinations.
Even if we do not want to think about it,
the problem of malformations is quite
common. There are not only some
common genetic alterations, but also
some kind of rare ones. Inside the group
of the most well-known are spina bifida,
cleft lip and palate, clubfoot, Down’s
syndrome, hemophilia, congenital hip
dislocation, Tay-Sachs disease and
phenylketonuria fetal alcohol syndrome
among others.
As Down’s syndrome is one of the most
common, we would like to provide you with
a little more information about it. This
syndrome is a condition in which the person
has an extra chromosome. The medical term
for having an extra copy of a chromosome is
‘trisomy’ and Down syndrome is also called
trisomy 21. This extra copy changes the
form of the baby’s body and their brain
development, which can cause both mental
and physical problems.
Inside the group of the less common
malformations, we can name Fragile X
syndrome, Marfan syndrome, congenital
insensitivity to pain with anhidrosis,
Proteus syndrome, Netherton syndrome
and Moebius or Möbius Syndrome. Let us
delve a little deeper into Marfan syndrome,
which affects 1 in 5,000 individuals and is
caused by mutations in the FBN1 gene,
which determines the formation of
fibrillin-1. This protein, which is essential
for connective tissue, is usually found
abundantly in bones, lungs, ligaments of the
eye’s lens and in the aorta. Individuals
affected by this disease are very tall, have
large hands and feet and extraordinarily
flexible joints.
In conclusion, we should all take care of our
health not only for a while, but also for our
whole life in case we decide to have children
in the future, and as a recommendation, the
best thing you can do is not to drink alcohol
or consume narcotic substances, as these
can kill you or your baby.
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