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.
Patients are the centre and the core of our system. We are professionals committed to quality care and our organizational structure breaks down the traditional boundaries between departments and professional groups, with an exclusive model of knowledge areas.
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The commitment of Vall d'Hebron University Hospital to innovation allows us to be at the forefront of medicine, providing first class care adapted to the changing needs of each patient.
The Paediatric Neurology Department at the Hospital Vall d’Hebron is specialised in the genetic diagnosis of childhood neurological diseases. It participates in different national and European reference networks (like the URDCat Project, Solve-RD, and the European Reference Network for Rare Neurological Diseases), which centralises a large number of paediatric patients with hereditary dystonia.
The genetic studies are carried out in the Paediatric Neurology Laboratory as part of several different research studies, which are funded by national and international entities as well as associations of families affected by dystonia.
Patients who are likely to suffer from dystonia undergo different metabolic, neurophysiological, and neuroimaging tests in order to classify what kind of dystonia they have, before carrying out genetic studies. Next, DNA sequencing studies are performed to establish the genetic origin of the dystonia.
There are many different genetic origins of dystonia. Therefore, diagnosing it requires both conventional and newly developed DNA sequencing techniques.
For patients with myoclonus-dystonia, first, Sanger sequencing is done for the epsilon-sarcoglycan gene, which is responsible for 70% of myoclonus-dystonia cases in children.
For patients with other kinds of dystonia, whole-exome sequencing (on the parents and the patient) or sequencing for the index case (the patient) is done first, depending on the DNA samples available.
To determine the origin of the patient’s dystonia, which is essential for deciding on a correct course of treatment.
There are no risks for the patient.
Juvenile idiopathic arthritis (JIA) is a chronic disease characterised by persistent inflammation of the joints that begins before the age of 16.
There are various types of JIA which can be identified by the number of joints affected and the presence of symptoms such as fever and skin manifestations, amongst others. The diagnosis is made by observing the symptoms during the first 6 months of the disease.
The main symptoms are pain, swelling and increased heat in the joints, with stiffness and difficulty moving. Sometimes the beginning is slow, insidious and progressive. The child may be tired or irritable, if they are younger. Older children may notice stiffness when moving their joints when they get up in the morning. At other times, the beginning is acute and serious, with the presence of general symptoms such as general malaise, fever, blemishes on the skin and several swollen joints.
JIA is a relatively rare condition that affects 1 or 2 children in every 1,000.
JIA diagnosis is based on the presence of persistent arthritis and carefully excluding any other condition by using the clinical history, physical examination and blood tests.
JIA is considered where the condition begins before the age of 16, the symptoms last for more than 6 weeks and other conditions that may be responsible for arthritis have been discounted.
The treatment must be put in place early and each child must be considered individually, which means that the therapy will have different levels of intensity depending on the type, time and seriousness of the condition.
Its aim is to care for the child’s all-round physical and psychological development, to try and improve all aspects of their quality of life.
To ensure that there are no after-effects, or that these are minimised, there must be ongoing effort and close collaboration between the child and their parents or family and the various specialists. It is essential that the family understands this disease. The child will begin to learn about it according to their age.
When it comes to diagnosis, certain analytical tests are valuable, along with examinations of the joints and eye tests for a better definition of the type of JIA and identification of the patients at risk of developing specific complications, like chronic iridocyclitis.
The rheumatoid factor (RF) test detects this autoantibody which, if positive and found persistently in high concentrations, indicates a subtype of JIA.
Antinuclear antibodies (ANA) usually test positive in tests on patients with early onset oligoarticular JIA. The population of patients with JIA has a greater risk of developing chronic iridocyclitis and, therefore, eye tests using a slit lamp should be scheduled (every three months).
HLA-B27 is a cellular marker which tests positive in up to 80% of patients with arthritis associated with enthesitis. In contrast, it is only positive in 5%-8% of healthy people.
Other examinations are valuable, such as the erythrocyte sedimentation rate (ESR), or C-reactive protein (CRP), as these measure the degree of general inflammation. Nevertheless, diagnostic and treatment decisions tend to be based more on the clinical manifestations that appear rather than the analytical tests.
Depending on the treatment, patients may need periodic tests (such as haemograms, liver function tests, or urine tests) to check for treatment side effects and any pharmacological toxicity that may not show any symptoms. Joint inflammation is mainly assessed by clinical examination and, sometimes, using imaging studies, such as ultrasound. Periodic X-rays or magnetic resonance (MRI) scans can be helpful in assessing bone health and growth and in personalising the treatment.
Associació Espanyola de Febre Mediterrània Familiar i Síndromes Autoinflamatoris
FEDER
Lliga Reumatològica Catalana
Sarcomas are an uncommon type of cancer that account for only 1-2% of all tumours in adults. They also represent a complex entity, given that there are more than 70 types, with differences in terms of their diagnosis, prognosis and treatment. Accordingly, sarcoma patients need to be assessed by multidisciplinary committees with vast experience in this disease.
Sarcomas are a set of rare tumours whose origin lies in the soft tissues of the body or the bones.
Soft tissues include muscles, nerves, vessels and fat. These tissues may also form part of organs.
The infrequency of sarcomas makes it necessary to handle clinical cases and their treatment on an individual basis, which generally involves a decision-making process that is shared by several professionals with expertise in this disease and the patients themselves.
The correct diagnosis of a sarcoma and its specific type is the first critical step to be taken, as it will form the basis of the clinical handling of the patient, as well as the precise information about the nature of their disease.
In contrast to many cancers, sarcomas do not usually generate symptoms in their early stages of growth. This is because they develop in areas of the body in which they can progressively grow by pushing against structures and organs.
The first symptom may be a painless lump. The majority of lumps are benign, but if it grows quickly, hurts, is deep and/or measures more than 5 centimetres, it is more likely to be a sarcoma. Sometimes the symptoms may appear as a result of excessive compression of the body’s various tissues and organs.
There is no clear factor that triggers a sarcoma. Certain inherited genetic syndromes may predispose a person to being more likely to develop a type of sarcoma, such as Li–Fraumeni syndrome, neurofibromatosis or familial adenomatous polyposis.
One of the most important steps is to confirm the clinical suspicion of sarcoma and identify its specific type. This requires a biopsy to obtain a fragment of the tumour so it can be studied by Pathological Anatomy.
It is sometimes diagnosed with molecular techniques in association with radiological tests like x-rays, computed tomography (CT), magnetic resonance imaging (MRI) or PET-CT.
The treatment of all sarcoma patients is always agreed by multidisciplinary committees composed of professionals with expertise in sarcomas from a variety of the services of our centre: Medical Oncology, Radiation Oncology, Traumatology, General Surgery, Radiology and Pathological Anatomy.
Given that sarcomas may arise in any part of the body, occasionally other specialists may also participate.
The treatment of sarcoma patients may include:
The most suitable procedure depends on a number of different factors in addition to the specific type of sarcoma. Targeted therapy and immunotherapy play a very important role in certain types of sarcoma. Finally, there are also clinical trials that experiment with new therapies.
The commonest are radiological tests like those described above (x-ray, CT, MRI and PET-CT).
As there is no specific cause of sarcomas, in the majority of cases there are no specific measures that can be taken beyond the usual healthy living habits recommended by the World Health Organization.
Patients with inherited genetic syndromes, however, are advised to undergo monitoring in specialist units.
Cervicalgia is the name given to pain that appears in the area of the cervical spine, the posterior part of the neck. Sometimes, this pain can radiate to the head and arms, or also towards the dorsal (middle back) area. The cervical spine has a dual role: it needs to be stable enough to support the weight of the head, but also flexible enough to allow for a wide range of movement and to function properly. In addition, the cervical spine contains the spinal cord, from which the nerves that control the upper extremities branch out.
The cervical spine is made up of seven vertebrae, which are separated by fibrocartilaginous cushions called intervertebral discs. From the age of 35 onwards, as a consequence of thousands of movements, including flexion, extension, and rotation, neck pain and/or discomfort may appear.
To keep the head in a normal position, the muscles in the back of the neck must work properly, since the head and neck do not come together at a central point, but rather, the neck supports the posterior part of the head. The muscular tension required to maintain the head in a correct position, as well as damage to the small joints between these cervical vertebrae (osteoarthritis), are common causes of neck pain.
Mechanical and postural causes are often responsible for cervicalgia. These changes can produce compression lesions on the nerve structures that pass through the cervical region. The intervertebral discs can slide forward or backward, and even herniate, affecting the nerve structures.
Neck pain is one of the most frequent reasons for a visit to the doctor's surgery. We know that up to 70% of the population will suffer from this problem at some point in their lives.
Bad posture, the use of new technologies, work habits, traffic accidents, population ageing, stress, and worry all contribute to this high incidence.
Diagnosing this condition is based on the characteristics and mechanisms of the pain, as well as the results of a physical examination.
Neck pain can be either mechanical or inflammatory in nature. Mechanical causes are the most common; this kind of pain gets worse with movement and improves with rest. This kind of pain is caused by wear, practising sport, some types of work that cause mechanical stress on the neck, previous trauma, and degenerative disorders.
Inflammatory-type pain suggests the presence of inflammation, infection, and/or tumours. It is a continuous pain that does not improve with rest nor medication. It is usually accompanied by other symptoms such as fever, impaired general condition, neurological symptoms, etc. The physician will evaluate the need to carry out any tests and determine which one is most suitable for each case.
Generally speaking, mechanical neck pain improves in 2-3 weeks.
Treatment should include:
Taking pain relievers like paracetamol can help control the pain. Other treatments, such as taking anti-inflammatory medications or muscle relaxers, will be prescribed as needed by your physician. If the pain persists or new or different symptoms appear, talk to your doctor.
It is important to keep your head in a good position and to correct your posture. For this, exercises that strengthen the posterior cervical muscles (the extensors) are very useful, as they will help you maintain a correct, straight posture. This will prevent the pain from reappearing or becoming chronic.
Generally, acute neck pain does not require any diagnostic tests. With a conventional X-ray, the cervical vertebrae can be evaluated and a diagnosis can be made using just this, in most cases.
On another note, it is very common to find signs of osteoarthritis, such as impingement, on X-rays; these do not require any kind of treatment.
If the clinical case warrants them, your physician will decide (based on the symptoms) whether to carry out neurological tests like a CAT (computerised axial tomography) scan, NMR (nuclear magnetic resonance) scan, or an EMG (electromyogram). These tests are intended to diagnose more severe injuries or to assess nerve damage in the cervical spine.
Low back pain is discomfort in the lower back, often caused by muscle, ligament, joint, or disc injuries. Early recognition, relative rest, heat application, and physiotherapy help relieve pain and prevent chronic complications.
Chronic lower back pain is defined as pain persisting for more than 3 months, and is one of the most frequent and costly musculoskeletal problems of modern society. It is estimated that up to 80% of the adult population will suffer from lower back pain at some time in their lives. The most common causes of chronic lower back pain include degenerative disc disease, lumbar facet arthrosis, spondylolisthesis, facet dysfunction, herniated disc, lumbar spinal stenosis, the after-effects of trauma or deformity, among others.
Pain in the lower back, which is usually mechanical in nature.
it can affect up to 80% of the population. In the case of younger people, it is usually caused by trauma and/or inflammation, while among the older population the cause is usually degenerative.
The main diagnostic tools are patient history and physical examination. They can be complemented by scans, which are helpful when considering invasive treatments.
Relative rest, local heat, medication, changes to activity. Once the acute pain episode is over, rehabilitation treatment can begin, with physiotherapy and back school therapy. There are cases where the causes of the pain indicate a need for surgery, and after more conservative therapies have been tried, an operation is required.
X-rays, tomography and MRI
Regular exercise and posture correction.
Acute spinal cord injuries, both in adults and children, are a complex and significant health problem that negatively affects the patient in terms of morbidity and mortality, but that also has an impact on their personal environment.
The main symptoms are those derived from motor paralysis and lack of feeling below the area of the injury, and also and above all, effects on the autonomic nervous system which produce: changes to the cardiovascular and respiratory systems, to the urinary tract including changes to the capacity to store and evacuate urine, to the digestive system causing severe constipation, incontinence and faecal impaction, as well as changes to sexual function.
Treatment is integrated rehabilitation aimed at early intervention once the acute spinal cord injury has occurred in order to prevent complications and achieve the greatest functional independence possible in all physical, emotional and social aspects. Re-establish self-esteem by maximising the remaining abilities; encouraging the best social reintegration possible (active, independent and satisfying); and informing and advising the family to help them understand and manage the disability.
When it comes to young people, prevention of complex spinal cord injuries is focused on avoiding risky activities: reckless driving or driving under the influence of alcohol and drugs, diving into shallow water and dangerous sports such as climbing, MTB or skiing. In the case of adults, especially the elderly, it centres on eliminating risks to prevent falling such as carpets or heights, by using walking sticks and controlling medication to avoid orthostatic hypertension which can cause falls.
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.
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.
Osteoarthritis is a condition that causes the cartilage developed by the bones to protect them from the wear caused by using the knee to break down. Once this deterioration has started, it develops progressively. At advanced stages of the condition, this breakdown causes pain and prevents patients from walking or standing normally. There are currently no medications to halt the breakdown at this stage.
When the pain cannot be managed with the usual painkillers, total knee replacement surgery is required, also known as arthroplasty.
The aims of knee replacement surgery are to:
During surgery, joint surfaces that are missing cartilage are replaced by an artificial implant made of chrome, cobalt or titanium.Once the affected part has been removed, the metal implant is put into place and fixed to the bone using cement.
At Valld’Hebron Hospital, we perform up to 500 knee replacement operations a year.
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