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It is a chronic brain disorder that can affect people of any age. It is characterised by recurring convulsions caused by excessive electrical impulses in groups of brain cells.
The consequences can be neurological, cognitive, psychological and social.
In 2005, epilepsy was defined as “a disorder of the brain characterized by an enduring predisposition to generate epileptic seizures”. Epilepsy is therefore diagnosed when patients experience two or more seizures, separated by a period of time that can last from 24 hours to 10 years.
Epilepsy causes brief absence seizures, involuntary movements, repetitive reflexes such as sucking movements, loss of consciousness, and so on. It can originate in one area of the brain (focal seizure) or the brain as a whole (generalized seizure). Seizures are sometimes accompanied by loss of consciousness and/or loss of bowel control. Their frequency can vary from only just one over a ten year period to several per day.
Seizures (absence seizures, muscle contractions, etc.) are the main symptom and may vary depending where in the brain the epileptic seizure begins.
For example, in tonic-clonic seizures (GTCS), it is common to observe twitching, muscle contractions, jerking, etc. These movements are called “myoclonus” and may be symmetric or asymmetric and are accompanied by rolling of the eyes. They are followed by a spasm with clenching of the teeth, laboured breathing and an epileptic shout.
Epilepsy affects the entire population, regardless of age, from whilst still in the womb right up to people in their nineties. It is estimated that 8 in 1000 people have the condition.
Related factors:
In some cases the cause of epilepsy may be unknown, as although we can see an epileptic seizure occurring in the brain, current technologies do not reveal what causes them. Epilepsy may also be genetic.
It is the second most common neurological disorder (after stroke) seen in accident and emergency departments. An estimated 3,000 patients are seen in our centre every year. 3% of the population will attend a medical centre at some point during their lifetime to determine whether their symptoms are caused by epilepsy.
Diagnosis requires:
It is advisable to avoid all situations that may create:
When faced with a seizure, a series of recommendations should be followed to avoid injury to the person having the seizure.
It is a cancer found in the bones and soft tissue. Ewing's sarcoma is the second most common cancer in children, and normally occurs between ten and twenty years old. It is also more common in males than in females.
Ewing's sarcoma and primitive neuroectodermal tumours (PNET) are cancers encompassing different types of malignant tumours that share a common chromosomic abnormality.
Ewing's tumours located in soft tissue are called extraskeletal Ewing’s sarcoma. They tend to be found in the thigh, pelvis, parts of the spine, the chest wall and the foot.
Primitive neuroectodermal tumours in bones and soft tissue are the least common type of Ewing’s sarcoma. They are made up of immature nerve cells.
The most common symptoms of Ewing’s sarcoma are:
There may also be a lump or swelling around the affected bone or tissue. During diagnosis it is very common to discover a pathological fracture (a non-traumatic fracture) due the fact that the tumour has weakened the bone. Weight loss and fever are other very common symptoms of this kind of tumour.
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. Ewing’s sarcoma represents 3 % of cancers diagnosed in children throughout Spain. Every year there are around 30 new cases in children under 14 years of age.
If a child shows symptoms of this sarcoma, the doctor will carry out several diagnostic tests which may include:
These tests will help to determine the size and location of the tumour and whether it has spread to other parts of the body.
Three kinds of treatment are often used to treat Ewing’s tumours. Chemotherapy is always used. In addition, surgery (whether to save or amputate the limb) and radiotherapy are used for local control of the tumour. The type of treatment depends on the child's age, the location of the tumour and whether it has spread to other parts of the body.
There are currently no measures to prevent this kind of tumour.
Epidermolysis bullosa (EB) encompasses a range of genetic diseases characterised by excessive fragility of the skin and mucous membranes when subjected to minimal trauma. The disease appears at birth or during the first few years of life, and lasts a lifetime. Prognosis is variable, but tends to be serious. Life expectancy is 50 years, and the disease brings with it complications related to infections, nutrition and neoplastic complications. There is currently no effective treatment available.
Depending on the area of skin where blistering occurs, the disease can be divided into four main groups, and subsequently 32 subgroups.
The most common cutaneous symptoms are blisters in the areas of greatest friction such as on the hands and feet. They are skin lesions that bleed and may form scabs that are easily infected and that itch constantly. Scratching contributes to new lesions and secondary infections of already affected areas.
Once blisters have healed, millium cysts appear, atrophic or hypertrophic scars that produce webbed hands and feet, joint contractures, as well as aesthetic and functionally limiting deformities in the hands or that affect walking. All this leads to loss of independence.
In addition, the chronic wounds may produce highly aggressive skin carcinoma.
Aside from this, extracutaneous manifestations may result, such as involvement of the skin annexes, teeth and the gastrointestinal systems, the urinary tract and the respiratory epithelium.
The disease has a low prevalence rate and affects one in every 17,000 live births worldwide.
The main method of diagnosis is mapping using immunofluorescence and electron microscopy techniques. In addition, genetic diagnosis is mandatory for these patients as the disease may have different evolutions and prognoses.
Although it is being researched, at the moment there is no cure for this disease, but preventative and symptomatic treatment of skin lesions can be carried out, as well as treatment for systemic complications. When the disease appears it is vital to act quickly as patients’ life expectancy and quality of life depends on it.
Currently, new cellular and molecular therapies are being researched to combat the disease.
Human papillomavirus (HPV) is generally spread through sexual intercourse and mainly infects the skin (penis, vulva, anus) or mucous membranes (vagina, cervix and rectum) of the genitals in both men and women. Likewise, it can also appear in the mouth and the pharynx and tonsils.
This is a frequently transmitted disease and in most cases it does not result in any pathology. It can, however, release a benign disease in the form of warts, or less commonly, different types of cancer. In women, HPV can cause cervical cancer.
HPV is spread via direct skin to skin contact during sex, and not through fluids. In around 90% of cases it disappears spontaneously, but it can be transmitted whilst the virus is present.
HPV is classified in terms of whether or not there is a risk of cancer developing:
It should be said that it is possible to be infected with more than one type of HPV. In addition, persistent infection can result in developing cancer of the cervix, vulva, penis, anus or oropharynx.
Specifically, the virus initiates dysplastic changes in the epithelial cells which continue to evolve until they produce an invasive cancer. This is a progressive process and the time from infection until developing the disease can be up to twenty years.
Genital warts or small protuberances or groups of different sizes and shapes may appear in the area of the genitals.
In the case of cancer, there are no symptoms until it is very advanced. In the case of cervical cancer, symptoms show up as:
In Catalonia, cancer of the womb occurs in 7.2 out of every 100,000 women per year (2003-2007). This represents 2.8% of all female cancers. Between the ages of 35-64 this figure rises to 16.1 cases for every 100,000 women. Furthermore, the risk of developing this disease for women who live to 75 is one in 106.
Anal cancer has an annual incidence rate of 1.8 cases for every 100,000 people, but in the case of men engaging in same-sex relations and infected with HIV, this rises to 70 or 128 cases for every 100,000.
When there is evidence of warts, diagnosis is usually clinical or by biopsy. Cancer is detected by cytology tests, which allow anomalous changes in the cells to be seen before they develop. If the test comes back anomalous it can be complemented by a colposcopy that allows magnified examination of the cervix and samples to be taken.
HPV detection is the main component of a preventative strategy to detect the virus before it reaches the point of disease.
There is no specific antiviral treatment for HPV.
In the case of warts, in most cases they can be eliminated through surgery, ointments or other treatments.
If cancer does develop, treatment will depend on the stage at which it is diagnosed. For example, if it is detected early in the cervix this can involve removing the damaged tissue, whilst in more advanced stages it may require a hysterectomy, radiotherapy or chemotherapy.
The use of condoms is essential to prevent HPV. There is also highly effective vaccine used as a way to prevent cervical cancer. Regular cervical smear tests (Papanicolau test) are also carried out as a form of screening. This strategy, however, is changing due to the techniques used to detect the virus which, together with the smear test, are enabling the different stages of the disease to be monitored (acquisition, persistence, progression to precancerous lesions and invasion).
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.
Osteosarcoma, or osteogenic sarcoma, is a cancer of the bone cells. It is a malignant tumour that can spread to almost any organ or tissue in the body. It usually starts in the ends of the bones of the legs or arms, but can be found in other bones.
It is most commonly found in the distal femur (above the knee), the proximal tibia (below the knee), the proximal humerus (the arm below the shoulder).
It can spread to almost any organ or tissue in the body, but tends to go to the lungs first. It often occurs in children and young people between 10 and 20 years old who are undergrowing a rapid growth spurt. It tends to appear in an area where there has been trauma, but the relationship between this injury and the risk of developing osteosarcoma is currently unknown.
The most common symptoms are pain in the area of the tumour and swelling or a lump.
Movement may cause pain to increase.
If the tumour is in the hip or leg the child may limp.
Malignant neoplasms in children and adolescents are rare, but they are one of the most important causes of mortality in these age groups. Osteosarcoma represents 4% of cancers diagnosed in children throughout Spain. Every year in Spain there are around 40 new cases in children under 14 years of age.
There are different tools to diagnose osteosarcoma:
These tests will help to determine the size and location of the tumour and whether it has spread to another part of the body. This information determines which phase it is in and is necessary to decide the best treatment to follow.
Osteosarcoma is treated using two kinds of therapy: surgery (to save or amputate the limb) and chemotherapy.
Chemotherapy is usually given a few weeks before and after surgery. The type of surgery depends on the size and location of the tumour, and on the age of the child.
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