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Congenital mitral valve anomalies include a wide range of irregularities in the valves and subvalvular systems. This can cause problems from obstruction to mitral valve insufficiency. Two specific problems can occur: stenosis, which affects children; and congenital mitral insufficiency.
Congenital mitral stenosis tends to appear in the first two years of life,
and congenital mitral insufficiency occurs where there is an excess of liquid in the lung which causes breathing difficulties.
Symptoms of congenital mitral stenosis are:
Congenital mitral insufficiency results in an increase in respiratory infections.
Congenital mitral valve anomalies are rare and make up 0.5% of congenital heart defects.
The disease is detected via echocardiogram, which provides information on the valve’s components. This technique also allows any other associated damage present to be seen.
Congenital mitral stenosis requires different kinds of treatment depending on how severe it is.
Children who have undergone surgery can have a normal life but must be monitored by a cardiologist. However, as the child grows they may need a new procedure to adapt the valve to their growth until they reach adulthood.
In the case of congenital mitral insufficiency, surgical repair or replacement of the valve is necessary in patients with symptoms who have severe mitral insufficiency and do not respond to treatment.
A tumour is an abnormal growth of tissue. In the case of orbital tumours, this growth is located in the tissues around the eye, which may be muscles, bones, fat, the lacrimal gland, nerves and blood vessels. They are rare tumours of several different types that may appear at any age. Orbital tumours may be benign or malignant. Benign tumours may cause pain due to compressing or displacing the different structures in the eye socket. Malignant tumours, on the other hand, as well as spreading to neighbouring tissue, may produce metastasis in other unconnected organs or lymphatic nodules.
The most common symptom is a protrusion of the eyeball out of its socket, known as “exophthalmos”. However it can also cause loss of vision due to compression of the optic nerve, double vision, pain and can limit the movement of the eyeball.
In some cases, tumours may be present in the eye socket for an entire lifetime with no symptoms.
It is hard to know the exact number of people affected by orbital tumours as it is a rare kind of tumour that includes several variants.
Benign tumours are the most common; capillary haemangiomas and dermoid cysts in children, and cavernous haemangiomas in adults.
The most common malignant tumours in children include rhabdomyosarcoma, and in adults lymphoma cancers of the lacrimal gland and metastases.
Imaging studies (CT and nuclear magnetic resonance scans) allow precise location of the tumour, its size to be measured and certain biological characteristics to be known. This information, together with the patient's age and the speed of the tumour's growth, enables an initial assessment of whether or not it is malignant.
A definitive diagnosis is made after a biopsy of part or all of the tumour.
In most cases, the main treatment is surgery to remove the tumour and therefore avoid the damage it may cause if left to grow within the eye socket by compressing or displacing the eyeball and other structures.
Modern-day orbital surgery techniques allow extraction of the tumour by making small incisions in areas that are hidden or not very visible. This enables faster postoperative recovery.
In the case of malignant tumours, different combinations of surgery, radiotherapy and chemotherapy are used. It should be noted that regular check ups are needed after treatment.
Where there are no symptoms, observation and monitoring of the speed of growth is usually sufficient.
There are currently no preventative guidelines to reduce the risk of orbital tumours.
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 Musculoskeletal System Septic Pathology Unit also treats many of these patients from the start due to the complexity of their condition.
The different types of resistant osteoarticular infections treated in the unit 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.
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.
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