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Aortic pathologies include all the diseases that affect the aortic artery. The aortic artery is the largest and most important artery in the body, emerging from the heart and carrying blood to the rest of the body. This artery can be divided into four parts: aortic root, ascending aorta, aortic arch, and descending aorta. Each part can have its particular pathologies and, equally, different treatments.
The symptoms of aortic pathologies are highly variable and depend on which part of the aorta is affected.
If something is wrong with the aortic root, this can trigger a failure of the aortic valve, leading to symptoms of left-sided heart failure and shortness of breath, chest pain, and/or palpitations.
Lesions of the ascending aorta, aortic arch, and descending aorta are usually chronic and most of the time do not cause symptoms. Only in cases of an acute injury (aortic dissection, haematoma, or rupture) will the patient experience sudden thoracic or abdominal pain.
Aortic pathologies can affect people ranging from newborns to the elderly, with no differences in prevalence by gender. There are risk factors that increase the incidence of this group of disorders: high blood pressure, connective tissue disorders (Marfan syndrome, Loeyz-Dietz syndrome, etc.), and a malformation of the aortic valve, among others.
A correct individual and family medical history is needed to diagnose these pathologies. It is also essential to carry out imaging tests such as an echocardiogram, CT angiography of the aorta, and/or an MRI.
It is essential to know, understand, and control the risk factors that increase the incidence of these pathologies. The definitive treatment consists of replacing the affected part of the aorta or, in some specific cases, endovascular treatment with the placement of a stent.
These patients typically need a transthoracic or transoesophageal echocardiogram, a CT angiography, and they often need an MRI.
It is possible to prevent these pathologies by controlling blood pressure and correctly monitoring the affected aorta with imaging tests to detect changes in size or possible complications over time.
Adult congenital heart diseases are pathologies that are caused by heart defects, and they are usually diagnosed during childhood. These patients are closely monitored by the Adult Congenital Heart Disease Unit (UCCA) starting from the time of their diagnosis.
The symptoms of these pathologies vary widely, depending on the structure(s) affected. They are often highly complex pathologies that involve, in addition to the malformation, a haemodynamic situation that’s different from the physiological situation and that limits or disrupts the patients’ lives.
These illnesses are present in patients from birth, even though they are sometimes not diagnosed until adulthood.
The diagnosis of these disorders is highly variable, depending on the type. However, they require, in addition to a correct medical history and physical examination, heart imaging tests such as an echocardiogram (transthoracic or transoesophageal), MRI, CT angiography, or other diagnostic tests such as cardiac catheterisation.
Medical treatment is important to improve the symptoms of these affected patients. However, most of them require one or more corrective surgeries at some point in their lives.
There is no way to prevent a congenital heart defect. In recent years, however, the focus has been on developing prenatal diagnostic techniques.
The Cardiac Surgery Department and the Adult Congenital Heart Disease Unit within the Cardiology Department work in collaboration.
We implant, change out, and remove the cardiac stimulation devices needed for pathologies that involve the heart rhythm. Heart rhythm can be affected in different areas of the heart, and in most cases the solution to the problem is to implant a cardiac stimulation device like a pacemaker. At the same time, these systems sometimes need to be replaced or removed
The symptoms of heart rhythm disorders can range from dizziness to syncope (fainting). Apart from this, there are also cases where the device gets infected, and these will present with symptoms of local infection (redness, warmth, oozing, etc.) or symptoms of generalised infection (fever, chills, dysfunction of other organs, etc.).
Heart rhythm disturbances can affect patients ranging from newborns (congenital problems) to the elderly, and they are more frequent in patients over 70 years old.
A diagnosis is made by obtaining a correct medical history and performing a physical examination, in addition to the most important procedure, an electrocardiogram or Holter monitor test (an electrocardiogram for 24 hours).
There are heart rhythm disturbances that can be treated medically, but the vast majority of cases require invasive procedures such as ablations and implanting/removing cardiac stimulation devices.
In our Department, we have a unit dedicated exclusively to treating these pathologies and we are a referral centre for the removal of cardiac stimulation devices, which is mostly required due to infections related to the device. We are considered the benchmark centre for the removal of these devices, covering a larger health area for referrals for this pathology than for any other.
The most common tests are the electrocardiogram and the 24-hour Holter monitor test.
There is no way to prevent heart rhythm disorders.
Vascular disease is an illness that affects one or more valves of the heart. There are four valves in the heart, and these separate the various cavities within the organ. The prevalence of valvular disease has increased in recent years due to it being common among older people.
The symptoms of vascular disease depend on which valve is affected. If the affected valve is on the left side of the heart (aortic or mitral valve), the most frequently seen symptoms are left-sided heart failure, difficulties breathing, a decrease in exercise tolerance, and the need to sleep with pillows, among others.
On the other hand, if the affected valve is located on the right side of the heart (pulmonary or tricuspid valve), the most common symptoms are right-sided heart failure, oedema in the legs, an enlarged liver, and an accumulation of fluid in the abdomen, among others.
Valvular disease can affect patients ranging from newborns (congenital conditions) to adults. Currently, the most commonly seen patients are those over seventy years old, since the most frequent causes of valvular disorders today are degeneration and/or calcification. The occurrence of this disease is evenly distributed between men and women.
In order to diagnose valvular disease, a complete medical history and physical examination are required. After these steps, however, the definitive diagnosis is reached by performing an echocardiogram. With this echocardiogram, we can both see the affected valve and carry out a comprehensive evaluation of the rest of the structures in the heart.
Medical treatment for this disorder is useful only to ease and improve symptoms; the definitive treatment would be to replace or repair the affected valve.
Valve replacement or repair is mostly done surgically. However, there is the possibility of performing a percutaneous treatment, a technique that is usually reserved for patients deemed too high-risk for invasive surgery.
The most commonly performed test in these patients is an echocardiogram, which can be transthoracic or transoesophageal. This test is useful to both diagnose and monitor this disease.
The prevention of this disease consists of avoiding cardiovascular risk factors, even though there is not a direct relationship between these and the presence or severity of valvular disease.
The coronavirus SARS-CoV-2 is a virus known as acute respiratory syndrome coronavirus 2 that was first observed in Wuhan (Hubei, China) in December 2019. This new virus is the cause of an infectious disease, known as COVID- 19, which causes respiratory infections to people. In most cases, eight out of ten, the symptoms are mild.
It is important to contact 061 in case of fever, cough, shortness of breath and if you have traveled or have been in contact with a person from the highest risk areas. The World Health Organization (WHO) has declared the SARS-CoV-2 coronavirus as an international public health crisis.
Coronavirus is a family of viruses that circulates among animals. Some types of coronaviruses can also affect people, causing respiratory infections, such as the coronavirus SARS-CoV-2.
In 80% of cases, the symptoms are mild and can be confused with those of a flu:
These symptoms may appear gradually accompanied by nasal congestion or sore throat. Moderate cases may be accompanied by a feeling of shortness of breath and, in the most severe, the infection causes more severe complications, such as pneumonia.
According to current data, there are people who have become infected but have not developed any symptoms or are ill. Although in most cases the symptoms are mild, some people, with a more severe prognosis, have died.
The SARS-CoV-2 coronavirus can infect anyone, regardless of their age. Even so, two groups with greater risk have been detected:
The risk of infection is higher in those areas where there are cases of SARS-CoV-2 coronavirus diagnosed. Therefore, everyone needs to take protective measures, such as maintaining good hand hygiene or covering their mouths with their elbows or with a tissue when coughing.
Studies conducted so far suggest that the SARS-CoV-2 coronavirus is transmitted by air, from person to person, through droplets from the nose or mouth that are spread when an infected person coughs or exhales. Contagion occurs when these droplets are exhaled by a healthy person or when they fall on an object or surface that the person subsequently touches and then, without disinfecting the hands, touches the eyes, nose or mouth.
Between infection with the virus and the appearance of the first symptoms of the ailment, it is estimated that there may be an incubation period of between one and fourteen days. On average it is estimated that this is five days.
The diagnosis is made through a specific COVID-19 detection test.
Currently, there is no specific treatment for SARS-CoV-2 coronavirus, only supportive treatment. In milder cases, the treatment is similar to the flu: pain relievers to control fever and stay properly hydrated.
In the most severe cases, if the patient requires ventilatory support, due to pneumonia or respiratory failure, the patient is admitted to the ICU.
Syphilis is a sexually transmitted infection caused by a bacterium called T. pallidum. It can have very serious complications if left untreated, but, fortunately, it is easily cured with the right treatment.
You can catch it by having unprotected oral, vaginal, and/or anal sex with someone who has syphilis. In pregnant women, it can be transmitted to the baby through the placenta.
Syphilis manifests in different stages.
In the first stage, a chancre (an ulcerated lesion that is painless and thus can go unnoticed) appears in the area of first contact with the bacterium, such as the mouth, penis, vulva/vagina, or anus/rectum.
If not treated, it will progress to the second stage, known as secondary syphilis. At this stage, skin lesions are the most common sign, with erythematous lesions that affect the palms of the hands and the soles of the feet. However, it can cause many other symptoms, such as fatigue, sore throat, and even eye problems.
If left untreated, the infection can enter a latent period that can last for years, in which there are no symptoms and the only way to diagnose it is by doing a blood test.
The latent stage of syphilis has two phases: the early stage, during the first year, and the late stage, which occurs after a year of being infected. Long-term, 20 to 40 years later, a certain percentage of patients will exhibit neurological symptoms (cognitive impairment or neuropathic pain in the lower extremities) or heart issues (aneurysm). However, if these patients receive treatment with the right antibiotics, the syphilis infection can be cured at any stage. Nowadays, it is very rare for this disease to reach late stages.
In pregnant women, it can be transmitted to the foetus, which can trigger a miscarriage or a serious disease like congenital syphilis in the newborn. Thus, every pregnant woman should be screened for syphilis and treated if the test comes up positive.
The diagnosis is often done with a blood test, which looks for the antibodies generated in response to the infection. If there is a lesion, direct tests can be carried out on it to detect the presence of the bacteria.
The treatment of choice is still the intramuscular injection of penicillin. The number of injections required can vary depending on the stage of the disease, ranging from a single injection to three (one per week). If there are symptoms, the patient may run a fever during the first 24 hours following the injection.
The treatment is considered a definitive cure, but follow-up blood tests should be done periodically to confirm that the infection is gone.
Even though antibodies can be detected in the blood after treatment, if the individual comes into contact with T. pallidum again, they can be reinfected and experience a new bout of the disease.
If you are diagnosed with syphilis, you need to notify the people you have had sexual contact with in the past months. The number of months will depend on the stage the disease is in when it is diagnosed. If it is diagnosed during the first stage, you should contact the people you have had sexual relations with in the past 3 months. If this diagnosis occurs during the second stage, this time frame needs to be extended to 6 months.
Gonorrhoea is one of the most common sexually transmitted infections worldwide. Detection and treatment of this disease is carried out by an expert medical team.
Gonorrhoea is a curable infection caused by a bacteria that is transmitted from person to person via sexual contact, whether this involves the genitals, anus, or mouth. Depending on the sexual practices engaged in, the infection can also be located in the anus and the throat.
In many cases, gonorrhoea causes no symptoms.
In men, it produces a burning sensation and discharge from the urethra a few days after the infection is transmitted; it can also lead to complications and affect the testicles.
In women it can cause:
In women, gonorrhoea can lead to complications and affect the fallopian tubes and the pelvis area, possibly causing infertility. Other complications are uncommon.
A newborn baby can also acquire the infection if a pregnant woman has gonorrhoea and does not receive the proper prophylaxis. To avoid this, a preventative treatment is applied at the time of the birth.
Gonorrhoea affects people who have unprotected sex (without a condom) with someone who has this sexually transmitted disease.
To make a diagnosis, samples of the genital secretions must be collected using a swab and sent to a lab to carry out tests that can confirm the infection. To diagnose the infection in the throat or anus, samples must be taken from these areas.
The typical treatment consists of administering a single dose of an antibiotic derived from penicillin via a gluteal injection, if there are no allergies or other contraindications.
Sexual partners should also be evaluated and treated as needed, even if they do not have any symptoms.
To prevent gonorrhoea, you must use a condom when you have sexual relations with someone who is not a stable, healthy partner.
Atopic dermatitis, also known as atopic eczema, is the most frequent chronic inflammatory cutaneous disease in children. It manifests with outbreaks of reddened skin with peeling –eczema– which are more or less extensive, with intense itchiness, causing the need to scratch. This causes wounds on the eczema which often become superinfected. It is a disease which affects the quality of life of patients and those around them.
Atopic dermatitis is a chronic inflammatory cutaneous disease. It is known for manifesting in outbreaks, being reversible and for unpredictable progression during the patient’s life. The most frequent cutaneous disease in children. Patients have very itchy, dry skin, as well as a hyperactive immune response to environmental factors. Intense itchiness leads to uncontrolled scratching, which causes wounds on the eczema. These can be complicated by infection and can cause great anxiety in patients and their families.
Atopic dermatitis is a multifaceted disease caused by a combination of many factors, including:
Common symptoms of atopic dermatitis are:
Clinical presentation, characteristics of symptoms and initial signs depend on the patient’s age but, in all cases, axillary and inguinal folds are usually unaffected.
The most frequent cutaneous disease in children. Usually begins during childhood and most cases are resolved during adolescence. Although some paediatric patients are affected by the disease until adulthood. Atopic dermatitis can also sometimes begin in adults, young adults or even at an advanced age.
Atopic dermatitis is always diagnosed according to clinical criteria and generally does not require complementary tests. Currently, diagnosis and assessment of the severity of the disease are clinical with the doctor examining the patient.
A skin biopsy should be considered to exclude other conditions, including early stage T-cell cutaneous lymphoma, psoriasis or dermatitis herpetiformis.
Atopic dermatitis is not an allergic condition but children with the disease may suffer:
If rhinitis, allergic conjunctivitis or any food allergy is associated or suspected, the patent will be referred to the Allergology Department.
The main goal of treatment is to maintain the skin free from eczema outbreaks. Therefore, hygiene measures will be prescribed to keep the skin moisturised and less susceptible to inflammation. External factors that can trigger skin inflammation should also be avoided.
Topical corticosteroids, topical immunomodulators and oral antihistamines are used to control minor to moderate outbreaks of atopic dermatitis in order to reduce inflammation and itchiness. Topical or oral antibiotics may be necessary in case of eczema superinfection.
Controlling severe outbreaks may require systemic treatment, such as:
Prevention is essential to avoid the inflammatory response associated with eczema:
Anaemia is caused by a decrease in red blood cells, also called erythrocytes, resulting in a drop in haemoglobin levels. Red blood cells are primarily concerned with the transport of oxygen to different tissues. Anaemia can be caused by a blood disease, but it can also be a manifestation of other diseases.
Anaemia appears when haemoglobin levels fall from normal age and sex-dependent values, which are indicated to us in the results of tests conducted, although there are small differences between some laboratories and others.
As a consequence, patients do not have enough oxygen-rich blood, which causes them to feel tired, weak and dizzy or to have palpitations and headache, among other symptoms. It is very important to know the causes, but also to administer treatment, since serious or prolonged anaemia can affect the heart, brain and other organs.
Blood has different components, including red blood cells, white blood cells, platelets and plasma. In some types of anaemia, all of these are less abundant.
There are three main causes of anaemia:
If you have signs or symptoms of anaemia, see your doctor. If the disease is diagnosed, treatment depends on the cause and severity. There are many types of anaemia that have specific causes and characteristics:
The most common symptom of anaemia is tiredness and the feeling of exhaustion and weakness. People with anaemia have a hard time finding enough energy to do their usual activities.
Other signs and symptoms of anaemia may come about because the heart has to work harder to pump oxygen-rich blood through the body. These include:
According to WHO reports, anaemia affects 1.62 billion people worldwide, 24.8% of the population, depending largely on the economic situation of countries.
Prevalence is highest among preschool children and lowest among men. The population group with the highest number of affected people, however, is non-pregnant women.
Because anaemia does not always produce symptoms, your doctor may discover it during tests. At a routine appointment or for other reasons, your doctor may ask you if you have any of the signs or symptoms of anaemia, or if you have had a disease or health problem that may cause it.
To determine the severity of the disease and to find out its origin, a small test needs to be done, which should include the following examinations:
Your doctor may also perform a pelvic or rectal exam to detect sources of blood loss.
Blood tests help determine the type of anaemia and how severe it is. Among the tests indicated, a full blood count (haemogram) is the most common.
Sometimes, other tests will need to be done:
Genetic predisposition to cancer is an increased risk of developing cancer due to alterations in specific genes. It is not inherited cancer, but a predisposition. Suspected when cancers occur in multiple generations, at young ages, or multiple tumors in one person. Genetic testing uses blood, saliva, or biopsy and guides early detection, prevention strategies, intensive monitoring, and sometimes prophylactic surgeries.
Cancer is characterised by excessive and uncontrolled cell growth that invades and damages tissues and organs. It is a multi-factor illness that is caused by a combination of genetic and environmental factors.
Most cancers are sporadic, but some 5 to 10% of cancer diagnoses involve a hereditary genetic origin. This means that specific genes, called cancer susceptibility genes, present germ cell abnormalities (found throughout the body) that increase the risk of developing cancer.
It's important to point out that cancer is NOT hereditary, but the predisposition to developing it is. Having genes that are associated with cancer susceptibility simply means you have a higher risk of having the disease, not that you will have cancer for sure. This genetic predisposition can be transmitted from parents to offspring, normally following an autosomal dominant inheritance pattern, meaning that there is a 50% chance of passing the gene to descendants.
In some cases, the genetic susceptibility is individual and caused by a combination of multiple genetic differences (a combination of low-risk polymorphisms or allele variants). Identifying a genetic abnormality known to increase the risk of developing cancer in a family allows its members to benefit from early cancer detection and prevention measures, as well as to seek specific, targeted treatments against that type of cancer.
There are different genes associated with an increased risk of falling ill with cancer. Among the most frequent and well known are the genes:
The genes APC and MUTYH, linked with familial adenomatous polyposis –the formation of a large number of adenomatous polyps (non-malignant tumours) in the colon– and colon cancer.
There are different clinical criteria that may arouse the suspicion that an individual has a hereditary genetic abnormality that predisposes them to certain kinds of cancer, such as:
When these criteria are detected, they are referred to the genetic assessment unit specialising in cancer, where the need to perform a genetic study to rule out the possibility of a hereditary predisposition to cancer will be determined. This multi-disciplinary unit is staffed by physicians who are specialists in hereditary cancer and genetic counsellors. Here, an individual risk assessment, genetic tests, and follow-up for the carriers of the gene are carried out.
There are different syndromes that involve a genetic predisposition to developing cancer. For example, there are different genes that can make someone have a genetic predisposition to breast cancer. The most common are:
The genetic predisposition to developing colon cancer can be divided into two types: polyposic and non-polyposic.
There are different types of polyposis colon cancer. Familial adenomatous polyposis (FAP) presents the highest risk for developing colon cancer. It is characterised by hundreds or thousands of polyps in the colon, and sometimes also throughout the entire digestive tract. These polyps are not malignant lesions, but they can degenerate and develop into cancer. Thus, individuals with FAP end up developing colon cancer if these polyps are not removed. Pathogenic alterations in the APC gene are responsible for this condition. In addition, carriers of APC gene mutations are also at risk for other tumours or conditions (hepatoblastoma, thyroid tumours, and desmoid tumours).
The main syndrome entailing a predisposition to non-polyposis colon cancer is Lynch syndrome. This syndrome entails a high risk of developing colon and endometrial cancer, along with a risk of developing ovarian, bile duct, urinary tract, and gastric cancer. It is caused by mutations in the genes that are in charge of DNA repair, specifically, those tasked with mismatch repair, namely MLH1, MSH2, MSH6, PMS2, and EPCAM.
We can also find a genetic predisposition to endocrine tumours. Pheochromocytomas and paragangliomas are rare tumours that are caused by a hereditary genetic abnormality in 40% of cases. These can be caused by abnormalities in the succinate-dehydrogenase-encoding genes (SDHx), RET gene (MEN2 syndrome),MEN1 gene,NF1 gene (neurofibromatosis type 1) or FH gene, among others.
A genetic diagnosis is usually done with a blood sample, but a saliva sample or skin biopsy can also be used. DNA (present in the nucleus of our cells) is extracted from this sample for analysis.
There are different techniques for carrying out genetic studies. Currently, at our centre, we perform gene panel studies. This entails analysing different genes linked with the genetic predisposition to cancer to rule out any abnormality in them; this is also called gene sequencing.
When a genetic abnormality is found in a family, a predictive study is carried out. This kind of study determines if an individual also presents the genetic abnormality detected in the family.
Depending on the genetic change found, different measures for early detection and prevention can be recommended. For example, individuals with a mutated BRCA1/2 gene should begin to undergo an annual breast check-up, with a breast MRI and a mammogram, from the time they are 25–30 years old. Individuals with Lynch syndrome should get annual colonoscopies from the age of 25 onward.
Depending on the type of genetic disorder, risk reduction surgeries can also be an option. For example, in individuals diagnosed with FAP, depending on the number of polyps they have, a prophylactic colectomy (removal of the colon) can be performed to reduce their risk of developing colon cancer.
Follow-up and prevention measures are determined on an individual basis in the corresponding specialist's medical consultation. Additionally, at the medical office in charge of hereditary cancer, a reproductive genetic assessment is offered, depending on the genetic abnormality.
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