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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Acetabular, or hip, dysplasia in teenagers and young adults is a malformation of the hip. It is characterised by loss of the concavity of the socket (shallow and flat) and the acetabular ceiling becoming vertical, being badly positioned and covering the head of the femur in a way that creates instability in the hip.
The onset of pain is usually gradual, but it can sometimes be sudden if there is an increase in physical or sporting activity, weight gain or pregnancy.
Despite routine clinical examination and ultrasound on new-borns for detection and early treatment of developmental hip dysplasia, this disorder is still the most common cause of acetabular dysplasia in teenagers and young adults, and the reason behind over 50% of degenerative hip osteoarthritis requiring surgery to fit a full or partial prosthesis, or other techniques to preserve the hip.
Most cases are caused by developmental hip dysplasia, but in others, abnormal development and growth of the acetabulum is due to a deformity on the head of the femur. Excessive pressure on the joint means the cartilage deteriorates more quickly than normal.
The incidence rate in adults is very variable. The incidence of developmental hip dysplasia is 1 or 2% in new-borns and 60% of hip osteoarthritis originates in acetabular dysplasia.
Physical examination may be normal or cause pain in the groin when the hip is flexed with internal rotation and hip adduction. This “impingement test” shows an interjoint anomaly.
An AP standing x-ray and false profile and axial view of the hip are useful to diagnose and assess the severity of the condition. The high-resolution MRI in our centre allows us to see the structures and quality of the cartilage in the joint. If there is still any doubt, an arthroscopy can be performed.
Early diagnosis of developmental hip dysplasia through routine physical examination (Barlow and Ortolani tests) during the prenatal period and an ultrasound of the hip enable early treatment and prevention of residual acetabular dysplasia.
Neuroblastoma is one of the most common cancers in children under five, and makes up half of all cancers in babies. It is very unusual for this type of cancer to occur in older children or teenagers. Neuroblastoma starts in embryo cells made up of ganglia from the sympathetic nervous system and adrenal medulla, and therefore may appear in different locations and with many different clinical presentations.
It is not currently known what causes them, but they are understood to often be hereditary. Approximately two thirds of neuroblastoma occur in the adrenal glands (found above the kidneys) or near the spinal cord in the nerve cells that control the heart beat, blood pressure and digestion. Neuroblastoma may also appear in the chest, neck or pelvis. During diagnosis they are often found to have already spread; there may be metastasis in the lymph nodes, liver, bones, bone marrow or other organs.
Neuroblastoma may be divided into two types of tumour:
The first symptoms of neuroblastoma may be imprecise and include fatigue, weight loss or weight gain.
Abdominal tumours may cause abdominal pain or difficulty urinating or with bowel movements.
Tumours pressing on the spinal cord may cause weakness in the arms and legs and the patient may find it difficult to move their arms or to walk.
If the tumour has spread to the bones, it may cause pain and, if it has spread around the eyes, it may cause bulging eyes and dark circles. There may also be inflammation or a lump around the affected tissue. Other less common symptoms are weight loss and fever.
Malignant neoplasms in children and teenagers are rare, but they are one of the most important causes of morbidity and mortality in these age groups. Around 1,000 patients under 14 years of age are diagnosed with cancer every year in Spain. Neuroblastoma makes up 10% of cancers in children.
If the doctor believes the child may have a neuroblastoma, he/she will carry out a very precise examination and request several diagnostic tests to determine the size and location of the tumour. The most common tests are:
Treatment is administered taking into account the state of the disease, the child’s age and the location of the tumour.
Some low-risk neuroblastoma may disappear without treatment, and others can be cured with surgical treatment alone. However, many tumours in the “high-risk” category will already have spread tumour cells to other parts of the body, and in these cases it is necessary to use a combination of chemotherapy, surgery, radiotherapy, bone marrow transplant and immunotherapy.
There are currently no measures to prevent this kind of tumour.
Complete atrioventricular septal defect is a congenital heart condition caused by a hole in the wall separating the left and right chambers of the heart.
This is a congenital heart defect caused by a hole in the wall separating the left and right chambers of the heart. This communication affects both the atria (the upper chambers) and the ventricles (lower chambers).
The cause of the defect is the formation of endocardial cushions, which are responsible for the creation and joining of the atrioventricular valves with the cardiac septum, the wall that separates the two chambers.
This heart defect is also characterised by having just one atrioventricular valve in place of two; the tricuspid and mitral valves.
Children with this heart defect show classic symptoms of heart insufficiency or failure. This includes frequent respiratory infections, difficulty feeding and gaining weight.
This makes up 4 % of all heart disease and around half of the heart defects that affect children with Down's syndrome.
Diagnosis is via 2D echocardiogram.
New-born babies tend to undergo surgery for this heart defect when they are six months old. The procedure consist of closing the interventricular or interatrial hole using a patch. The atrioventricular valve is also reconstructed to create a valve on the right side and another on the left.
In children under six months with severe symptoms, a prior palliative procedure called pulmonary cerclage is carried out. This procedure is carried out by narrowing the pulmonary artery using a band to decrease excessive pulmonary flow.
Diphtheria is an acute infectious disease caused by the Corynebacterium diphtheriae bacteria and which only affects humans. It may show up as a condition of the upper respiratory tract (tonsils, pharynx and nasal mucosa). The bacteria produces an exotoxin that is responsible for the clinical symptoms of the disease. In adults, it can be fatal in 5-10% of cases, and in children this rises to 20%.
The characteristic symptom of respiratory diphtheria is a greyish white membrane (pseudomembrane) covering the tonsils and pharynx. The membrane tends to be difficult to remove and in doing so the area bleeds easily.
The most common symptoms are:
Thanks to vaccination, there have been no cases diagnosed in Spain for over thirty years. In 2015, however, there was one case in a child who had not been vaccinated.
Diphtheria is transmitted through respiration or close physical contact with an infected person or a healthy person carrying the bacteria but who has never shown symptoms.
The incubation period is two to seven days and it can be spread from seven days before symptoms appear up to two or three weeks afterwards.
Diagnosis is confirmed via microbial culture of clinical samples (swabs from the nasal mucosa, pharynx or pseudomembranes).
Diphtheria antitoxin medication and an antibiotic such as penicillin G procaine must be given as soon as possible (in the first 48 hours after showing symptoms, without waiting for the laboratory diagnosis).
Vaccination is the main measure to prevent diphtheria and is effective in 95% of cases. It must be periodically boosted as the effects of the vaccination do not last for ever.
Epidemiological monitoring and prophylaxis are essential to control the bacteria and to avoid secondary cases.
Chagas disease is an infection caused by the “Trypanosoma cruzi” parasite which is transmitted through the bites of an insect (the “kissing bug”). The disease can also be spread from mother to child (vertical transmission), through blood transfusion, organ donation from people infected with the disease or from eating food contaminated with the parasite.
For the moment, the number of new cases has been reduced thanks to policies to eliminate the insect in countries where it is endemic, as well as thanks to screening programmes aimed at blood and organ donors and pregnant women. The future challenges to cure this disease are maintaining and increasing these measures in addition to developing new treatment evolution and response markers for patients in the chronic phase, and new drugs to treat the disease.
Chagas disease is endemic to Latin America and is a global health challenge due to migration from countries in the region. Transmission via insect is mainly found in Bolivia, which has the highest number of cases. There are also infections in north-west Argentina, Peru, Paraguay, Ecuador, Nicaragua and southern Mexico. Outside these areas it is more commonly transmitted from mother to child.
Most patients with Chagas disease do not show any symptoms, which makes it difficult to detect. The disease develops in two phases:
This disease affects six to seven million people, but 60 million are estimated to be at risk of infection. There are 11,000 cases in Catalonia.
There are currently two drugs that are used to treat Chagas disease: Benznidazole and Nifurtimox. Specific treatment is needed to address any cardiac and/or gastrointestinal complications that may arise.
Since 2011, Catalonia has implemented the “Protocol for screening and diagnosing Chagas disease in pregnant Latin American women and their babies”. This programme allows possible congenital cases to be detected, and at the same time actively screens blood and organ donations from donors.
Stroke is a sudden disruption of blood flow to the brain caused by a blocked or ruptured blood vessel. The lack of oxygen can lead to irreversible brain damage, making early recognition and immediate medical care essential.
Strokes are a medical condition caused by an alteration in blood circulation to the brain. This alteration is due to an artery becoming blocked (ischemic stroke) or the rupture of a blood vessel (haemorrhagic stroke), preventing blood from reaching the brain and therefore temporarily or permanently altering brain functions. When blood flow is impeded, the affected part of the brain does not get the nutrients and oxygen it needs. As a result, brain cells can die, causing severe after-effects.
For this reason, if a person is suspected of having a stroke, the Emergency Medical Service should be notified immediately by calling 112. Acting quickly is essential in order to minimise or eliminate possible after-effects.
Strokes can be grouped into two broad categories depending on the reasons behind them:
When blood flow is temporarily interrupted (for between one and 24 hours), this is known as a Transient Ischemic Attack (TIA); however, if the duration is longer or the brain scanner detects necrosis (neuronal death), it is considered an ischemic stroke. TIA is a predictor of vascular disease and, in the case of stroke, is a warning that the person is at risk. In fact, 40% of people who suffer a stroke have previously suffered a TIA.
In the event of the sudden onset of one or more of the following symptoms, action should be taken quickly by calling 112:
Anyone can suffer a stroke, regardless of age and physical condition, although they are more common in the elderly. About 75% of cases occur in people over 65, although they increasingly affect young adults due to their lifestyle habits (between 15 and 20% are under 45). Strokes can also affect children: in Catalonia alone, 900 children live with a disability as a result of a stroke.
This disease can also be known by other names, such as apoplexy, cerebral vascular accident, seizure and thrombosis. In Catalonia, more than 13,000 people are admitted each year for a stroke and, unfortunately, they are not always reached in time to save the patient.
To determine the cause of a stroke it is necessary to perform a brain scan (CT). The scan can be completed by reviewing the condition of the cerebral and cardiac vessels, taking into account risk factors and chronic diseases presented by the patient. However, it is not always possible to discover the origin.
Knowing the cause of a stroke allows us to establish the most appropriate treatment to prevent it from happening again. Depending on the aetiology (cause), it can be classified as:
If a stroke is suspected, a neuroimaging test (a CT or MRI) should be performed as soon as possible, which will tell us about:
Specialists may request other tests such as a chest x-ray (performed upon admission as a first assessment), a doppler or transcranial duplex (to see whether there is a possible intracranial occlusion or stenosis, and where it is located), blood tests (to find out the status of risk factors, immunological and coagulation study, serologies, hormones, renal function, etc.) or a cardiological study (if a cardioembolic stroke is suspected).
After diagnosis, specialists may ask to repeat the tests to detect any changes by comparing the images, or request other tests.
Stroke treatment should be applied immediately, as rapid action can lessen the effects. However, a rehabilitation period is usually needed to eliminate or reduce possible after-effects.
After suffering a stroke, the risk of having another is higher, so it is necessary to take medication to reduce the risk, always following medical guidelines. The first year after suffering a stroke is when there is the highest risk of relapse.
Suffering a second stroke may have a fatal outcome. In survivors, it leads to an increase in the degree of disability and risk of dementia, as well as a higher rate of institutionalisation.
The impact may be different for each patient. Symptoms will be more or less severe depending on the area and volume of the brain affected, as well as the general state of health prior to the event.
In the case of a transient ischemic attack (TIA), which does not usually leave after-effects, or ischemic strokes, if the patient responds well to treatment, recovery is virtually immediate. At other times, the recovery is longer term and takes weeks or months, leaving some sort of after-effects.
There may also be a worsening of the patient due to neurological causes or complications such as fever, infections or others. In more severe cases, it can lead to death.
Once the patient is discharged, the primary care team takes responsibility for the patient, and will monitor risk factors and other chronic diseases. In complex cases, patients will need to visit specialists, such as neurologists.
The return home after hospital discharge will vary depending on the severity of the incident and the patient's family situation. Similarly, reintegration into daily life will depend on the after-effects experienced by each patient.
They are inherited diseases affecting the heart and aorta. A range of diseases are included such as myocardiopathies, conduction diseases, and genetic aortopathies.
Myocardiopathies are diseases of the myocardium, the muscular tissue of the heart. There are several types of myocardiopathy: dilated, hypertrophic, non-compaction, arrhythmogenic dysplasia of the right and/or left ventricle and restrictive. Imaging techniques are used for diagnosis. Medical treatment and, where necessary, fitting a resynchronisation defibrillator can avoid complications and improve patients’ quality of life.
Pharmacological provocation tests are important for diagnosis of conduction diseases such as Brugada syndrome, long QT and short QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Treatment is medical and sometimes a defibrillator device may need to be fitted.
Inherited aortopathies, or diseases of the aorta, such as Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome require imaging techniques to diagnose them accurately. Medical treatment and elective surgery prevent complications arising.
Symptoms of inherited heart disease are:
The prevalence of these disorders varies between 1/500 for hypertrophic myocardiopathy, 1/5,000 for conduction disorders and 1/5,000-10,000 for Marfan syndrome. Some of these diseases can therefore be said to be rare.
Diagnosis is reached using:
Treatment may require aortic surgery, the use of a resynchronisation automatic defibrillator implant or septal ablation.
Knowing the family medical history is important for all inherited heart diseases. Family screening can detect undiagnosed cases and lead to early treatment, and in some cases, preimplantation diagnosis.
Celiac disease is an autoimmune disorder in which gluten intake damages the small intestine, impairing nutrient absorption. It can appear at any age and causes digestive and non-digestive symptoms. Diagnosis is made through serological tests and biopsy, and the only treatment is a strict gluten-free diet.
An autoimmune disorder, coeliac disease is the genetically predisposed reaction to ingesting gluten; a protein found in wheat, rye, barley, oats, spelt, kamut, and triticale.
For coeliacs, ingesting gluten damages the villi in the small intestine, affecting their capacity to absorb nutrients from food (proteins, carbohydrates, fats, vitamins and minerals).
People of any age may have the condition, and although people from any part of the world may be affected, it appears to be most common among white people whose ancestors were from Northern Europe. The most recent studies show the disease affects around 1 person in 100, and it is currently considered the most common chronic intestinal disorder in the western world.
Although some coeliacs may not show any symptoms, the most common are:
It is not fully understood why someone may develop coeliac disease, but several genetic factors are known to make people predisposed to the condition. However, it appears that having a genetic predisposition does not necessarily lead to the disease and that certain environmental factors are required. Despite its genetic origin, we cannot say that it is an inherited disease, although if we look at the general population, the likelihood of someone having the condition is increased if a family member also has it. If there is a family history then the likelihood of having it is 10 %.
First-degree relatives of coeliacs and people with related illnesses such as type 1 diabetes or autoimmune diseases are at greater risk.
Coeliac disease may occur at any age and is more prevalent in women than in men. In Catalonia 1 in every 204 citizens has the condition and it is more common in children than in adults.
The diagnostic process is based on clinical suspicion or recognising some of the risk factors. Serological markers such as anti-transglutaminase antibodies or deamidated gliadin peptide antibodies are used. If they are positive, an endoscopic intestinal biopsy should be performed to confirm diagnosis.
Genetic testing for HLA-DQ2 and HLA-DQ8 can also be carried out to identify people at risk of developing the disease.
Treatment for coeliac disease currently consists of completely and permanently eliminating gluten from the patient’s diet.
Coeliacs cannot eat any foods that contain wheat, oats, barley, or rye. In most cases, complete and lasting recovery from the intestinal damage is achieved, provided the patient does not go back to eating foods containing gluten. Avoiding gluten is only recommended for people with coeliac disease or non-coeliac gluten intolerance and is not necessary, nor recommended, for the general population.
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