We are the combination of four hospitals: the General Hospital, the Children’s Hospital, the Women’s Hospital and the Traumatology, Rehabilitation and Burns Hospital. We are part of the Vall d’Hebron Barcelona Hospital Campus: a world-leading health park where healthcare plays a crucial role.
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It is a cancer that develops in muscle and soft tissue. It can therefore be found in any part of the body, although most commonly in the head and neck, including the eye sockets. Despite being a rare cancer, as are all tumours in children, it is the most common cancer of the soft tissue found in childhood. This disease is more common in boys than in girls.
Although mainly found in the head and neck, it may also occur in the genitourinary system such as the bladder and prostate in boys and the vagina or uterus in girls. It may also appear in other places such as the limbs (arms and legs) and, less commonly, in the abdomen and around the genitals and anus. Symptoms vary depending on the location of the tumour.
More than half of all soft tissue sarcoma found in children are rhabdomyosarcoma. Most children are diagnosed under nine years old, but this type of cancer can appear at any age.
Different symptoms are produced depending on where tumours are located.
Malignant neoplasms are rare, but they are one of the most important causes of morbidity and mortality in this age group. Around 1,000 patients under 14 years of age are diagnosed with cancer every year in Spain. Rhabdomyosarcoma represents 6% of cancers in children meaning there are 60 new cases every year in Spain.
The child’s doctor will perform a very careful examination and to reach a diagnosis the doctor will request several tests, which may include:
These tests will help to determine the size and location of the tumour and whether it has spread to any other part of the body.
Rhabdomyosarcoma is a highly malignant type of tumour and must therefore be treated with a combination of therapies including surgery, chemotherapy and radiotherapy.
Each of these treatments is administered depending on the condition of the tumour and the age of the child.
There are currently no known measures to help prevent this type of tumour.
The concept of resistant osteoarticular infections encompasses all procedures on patients with infections that have not responded to previous medical and surgical treatment.
These procedures may be changing prostheses or treatment for chronic osteomyelitis or septic pseudoarthrosis among others.
The different types of resistant osteoarticular infections treated are:
Osteomyelitis/osteitis of haematogenous origin and which are resistant to medical and surgical treatment:
Chronic osteomyelitis or septic pseudoarthrosis derived from trauma or surgical interventions. Those resulting from open fractures, typically in the tibia, are often accompanied by loss of bone or the cutaneous covering. Exact incidence rates are not known, but the more exposed the bone has been, the higher the chances of chronic infection.
Periprosthetic infections. This type of infection occurs in 1-3% of primary arthroplasty procedures. In some cases, the only obvious symptom may be pain. The presence of a fistula or the isolation of a pathogen microorganism in different samples is used to confirm diagnosis. The most common treatment is to change the prosthesis in two separate procedures.
Severe treatment-resistant diseases of the soft tissue (necrotizing fasciitis, gangrene). These are extremely unusual lesions and when do they appear they are often fatal. Excessive localized pain may be the only initial symptom, making it very difficult to diagnose at this stage. When diagnosed, aggressive treatment with antibiotics and surgical debridement can have an impact on survival and the need for amputation.
Patient-related factors (control of additional diseases or disorders) are very important in the prevention of osteoarticular infection, as are those related to surgery (antibiotic prophylaxis), the presence of implants, and tissue condition (bone and cutaneous covering) amongst others.
This type of infection requires a multidisciplinary team as treatment is very complex.
Tetralogy of Fallot is the most common cyanotic congenital heart defect, causing deoxygenated blood to enter the systemic circulation. Children may show cyanosis, breathing crises, and low oxygen saturation. Diagnosis is made via echocardiography, and treatment is surgical, usually around six months of age.
A congenital cyanotic heart defect is a congenital heart disorder in which deoxygenated blood bypasses the lungs and enters the circulatory system, or where there is a mixture of oxygenated and deoxygenated blood entering the system.
It is caused by structural defects in the heart such as bidirectional shunting, or the incorrect position of the pulmonary artery or the aorta, or any condition that increases pulmonary vascular resistance. The result is the development of collateral circulation.
Children with this heart condition will have the following symptoms:
Tetralogy of Fallot makes up 10% of all congenital heart disorders and is considered the most common cyanotic heart disease. There are around 400 cases for every million births.
Diagnosis is confirmed via 2D echocardiogram.
Repair is carried out around six months old. If the baby suffers a episode before the defect has been corrected, treatment is started in the form of beta blockers to reduce lung spasms.
If very severe cyanotic episodes persist in babies under six months despite this treatment, then palliative surgery needs to be performed to take blood to the lungs. This surgery consists of making a connection between a systemic artery and the pulmonary arteries (a systemic-pulmonary fistula).
The definitive corrective surgery involves closing the ventricular septal defect with a patch and widening the outlet from the right ventricle.
In cases of severe pulmonary insufficiency there is progressive dilatation of the right ventricle in the long term. If this becomes excessive, it is necessary to replace the valve. Risk of lung valve replacement is around 20% after 25 years.
Unfortunately, there are currently no measures that can be taken to prevent this heart condition.
These syndromes are a group of diseases characterised by insufficient blood cell production (anaemia, neutropenia and thrombocytopenia), constitutional malformations and the risk of cancer.
They are usually diagnosed in childhood but there some cases diagnosed in adults. Specifically, these syndromes are: Fanconi anaemia, dyskeratosis congenita or selectively severe congenital neutropenia, Diamond-Blackfan anaemia, Diamond-Shwachman syndrome, and amegakaryocytic thrombocytopenia.
Malformations caused by inherited bone marrow failure syndromes affect the skin, bones, heart and digestive system as well as the urinary system, the central nervous system, and others. They may also affect the area around the bone marrow.
Besides this, they also increase the predisposition to cancers such as acute myeloid leukaemia, myelodysplastic syndrome and squamous carcinoma of the head, neck and reproductive organs.
These syndromes have important biological pathways in common related to cell growth and division such as the activation of the p53 gene that is responsible for halting the cell cycle, cell ageing and cell death. In addition, mutations have been identified in more than 80 genes.
Although this is treated in childhood, once the patient reaches adulthood monitoring is very important. Early diagnosis of these syndromes is essential to ensure the patient receives appropriate treatment. The aim is to minimise toxicity at the same time as allowing genetic counselling, and implementing strategies for cancer prevention and monitoring. This treatment should focus on treating the bone marrow failure, but also any constitutional malformations and extra-haematological manifestations, in addition to cancer treatment.
A multidisciplinary team of specialists with extensive experience of these diseases is necessary to ensure optimum patient care.
The first symptoms are related to a lack of blood cell production:
There are also signs related to malformations such as:
Estimated incidence rates of the different syndromes are:
The usual tests to detect inherited bone marrow failure are:
The following methods are used to treat these pathologies:
To prevent these diseases it is important to avoid smoking, alcohol, sun exposure, and to have a balanced diet. In addition, a cancer prevention programme should be followed with regular visits to the Cancer Prevention Unit and the Ear, Nose and Throat, Maxillofacial and Gynaecology departments.
The disease caused by the Zika virus is contracted by a bite from an infected mosquito, as in the case of dengue fever, chikungunya and yellow fever. It can also be spread through sexual intercourse, pregnant women may transmit it to their children, or through blood transfusions. In Europe there are no cases of infection by mosquito; all cases have been imported.
It is disease lasting a short time that can be overcome without complications or the need for admission to hospital. However, there is a relationship between this infection and some neurological disorders. In addition, pregnant women who are infected may give birth to babies with microcephaly.
The incubation period in humans is 3-12 days, up to 15 maximum. Although on many occasions there are no symptoms, when there are the disease is characterised by:
Since 2015, 71 countries have declared transmission of the Zika virus via mosquitoes. In addition, 13 more have stated that the disease has arrived by other means, generally through sexual contact.
In Europe, most cases have been imported from countries where it is endemic, mainly from Latin America but also from South East Asia. In Catalonia in December 2016, there were 150 registered infections, of which 32 were pregnant women.
Between the first seven to ten days of the disease, diagnosis is made using molecular biology techniques (RT-PCR) in blood and urine to detect the virus.
After this period, Zika disappears from the blood and is detected through antibodies in the serum.
There is no specific treatment for this disease. Symptoms generally disappear between three and seven days after infection. They are therefore lessened with analgesics and antipyretics.
There is currently no vaccine for this virus. For this reason, prevention is based on avoiding mosquito bites in countries where it is endemic, as well as using protection during sexual intercourse.
In the case of Catalonia, the risk is associated with the arrival of travellers from countries where it is endemic. Here there is a screening programme for pregnant women and their partners; they are a sensitive group as the virus may be passed to the foetus.
Pulmonary atresia with ventricular septal defect is a rare heart condition characterised by a lack of connection between the right ventricle and the pulmonary arteries.
This is a rare congenital heart defect characterised by no connection between the right ventricle and the pulmonary arteries. It is an extreme type of Tetralogy of Fallot in which blood enters the lungs to be oxygenated by bypassing the heart.
Blood can reach the lungs via the pulmonary arteries themselves, which are not connected to the heart, or via the collateral arteries, which originate from the thoracic aorta and directly supply the lung. There are significant anatomical differences between vessels which must be studied in each individual child.
This condition is very heterogeneous, which creates the variability seen in the pulmonary arteries. Two groups can be distinguished:
The prognosis of this disease depends on the growth of the pulmonary arteries to be able to surgically repair the condition.
It is a rare congenital heart condition which makes up 1-2% of all congenital heart defects.
In most cases, diagnosis is via foetal echocardiogram. This ultrasound will show the lack of connection between the heart and the pulmonary arteries, as well as the presence of VSD. Through this test the size and position of the pulmonary arteries can also be measured.
When a child is born, it has a certain quantity of oxygen, known as “saturation”, in its blood which is around 80-90% of the normal level, although this is enough for the child to develop normally.
The Ebola virus disease (EVD) is a serious infectious disease originating in wild animals. It is caused by a virus of the “Ebolavirus” genus (filoviruses) that tends to occur as outbreaks with a mortality rate of 50%.
The first symptoms are sudden onset of fever, muscle pain, weakness, headache and neck ache. These are followed by vomiting, diarrhoea, decreased function of the kidneys and liver, skin eruptions and haemorrhaging.
In the final phase of the disease, patients experience multiple organ failure which, in some cases may be overcome in the second week of the virus’ evolution and in others may cause death.
It is a contagious disease from the onset of symptoms.
It is a common disease in West and Central Africa. The biggest outbreak occurred in 2014 and resulted in over 11,000 deaths (Guinea, Liberia and Sierra Leone).
The incubation period ranges between 2 and 21 days.
In humans it is transmitted through direct contact with the blood and body fluids of infected people and with objects contaminated with infected patients’ body fluids. It can also be spread through sexual contact up to three months before any sign of symptoms.
It is essential to consider patients’ prior travel epidemiology and contact with others. Definitive diagnosis is carried out in laboratories in specialist centres, where the viral nucleic acid can be detected in biological samples. Before establishing an EVD diagnosis, other infectious diseases should be ruled out such as malaria, typhoid fever, dengue or meningitis.
As yet there is no specific treatment to combat the disease. It is important to keep patients well hydrated and maintain their arterial pressure, as well as provide to other essential life support.
Ebola prevention is based on different strategies:
A vaccination that has shown excellent results is currently in the approval stage.
Pulmonary arterial hypertension (PAH) is a disorder of the arteries that connect the lungs to the heart. Symptoms are shortness of breath or laboured breathing (dyspnoea).
Pulmonary arterial hypertension is a rare and serious condition that affects the pulmonary artery system. As the disease progresses, blood flow reduces. To compensate for this, the right side of the heart grows excessively, creating breathing difficulties.
It is defined by a rise in pulmonary artery pressure caused by abnormalities in the precapillary pulmonary arterioles due to uncontrolled hypertrophy, hyperplasia and proliferation.
Dyspnoea, syncope, palpitations.
It affects children and adults, especially women (65-80%) and usually appears in adulthood.
In around 50% of cases of pulmonary arterial hypertension the cause is unknown. The other 50% are related to:
In Spain there are 16 cases for every million adults and the incidence rate is 3.7 for every million adults per year.
Diagnosis is via a series of tests:
Although they will not cure it, there are several treatments that can significantly improve the condition, its prognosis and patients’ quality of life.
We are fortunate to have access to all the pharmaceuticals beneficial in fighting this disease:
The decision about the most suitable drugs for each patient needs to be made by centres with experience. Lastly, if these measures are insufficient, a lung transplant can be considered in some cases.
Taking anorectics, amphetamines and cocaine should be avoided. The HIV virus can also cause this condition and all factors, principally alcohol, that may lead to liver failure. Apart from these measures there are no other means of prevention and efforts should focus on early detection.
The treatment for suspected testicular tumours is the surgical removal of the affected testicle. Surgery is an important part of the diagnosis and treatment of testicular cancer.
Radical orchiectomy consists of the surgical removal of one or both affected testicles via the inguinal route, followed by an anatomopathological analysis to identify the type of tumour. This information will help the medical professionals to choose the most appropriate form of treatment for the patient.
After surgery, some patients may require treatment with chemotherapy or radiotherapy, which generates an excellent response in the vast majority of cases. These treatments are often prescribed after surgery in order to target remaining cancer cells that may have spread to other parts of the body, such as lymph nodes.
A detailed initial extension study, appropriate early treatment and strict follow-up are the pillars that help to ensure high survival rate and quality of life for these patients.
Patients with localised cancer may be treated with curative intent, primarily surgery or radiotherapy in its various forms. However, these radical treatments are not harmless and can cause side effects that affect the quality of life of the treated patient, such as erectile dysfunction, urine leakage and/or digestive disorders.
Not all prostate tumours are highly aggressive or impact the patient’s survival. Some do not even affect quality of life. These are low or very low-risk rumours, which are not very aggressive and not very large in size. They can be controlled without the need for immediate active treatment, albeit with close monitoring.
This is the surgical procedure by which the prostate gland is removed. In this operation, the urologist removes the entire prostate and seminal vesicles. In some cases, nearby lymph nodes are also removed at the same time. The use of the DaVinci robotic system and the minimally invasive approach means that this procedure can be performed with greater accuracy and excellent results.
In this treatment, ionising radiation is administered from a source of external beam radiation that is integrated into devices called linear accelerators. The radiation is modulated and applied directly to the prostate, protecting the nearby organs (bladder, rectum and urethra) as far as possible.This consists of various treatment sessions that take place in the hospital on an outpatient basis.
In case of disseminated disease, treatment is based on the suppression of testosterone, new hormone molecules and chemotherapy depending on the stage of the disease.
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