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There are two very different types of otitis, both of which children can suffer from: external otitis and middle ear infection.
External otitis affects the auditory canal and is above all related to exposure to swimming pool, bath and fresh water in general. It is most common in summer.
Middle ear infection is related to infections in the upper respiratory tracts, and can be self-limiting (it resolves itself in most cases) or purulent requiring antibiotic treatment It is most common in winter.
b) Middle ear infection: there is usually a history of catarrh in the respiratory tract, suddenly accompanied by pain (in small children this can manifest as intense crying), with or without fever. It does not hurt when the external ear is touched or moved. Sometimes the ear drum may be perforated due to inflammation and pressure, which may result in a purulent secretion, generally associated with the pain (and crying) disappearing.
In both cases, diagnosis is clinical: medical history, assessing symptomatology and exploration using an otoscope.
Otoscope exam. Occasionally, if there is suppuration, cultivation of the pus.
Scleroderma is an autoimmune disorder characterised by increased collagen in various body tissues, structural alteration of microcirculation and certain immune abnormalities. The term scleroderma comes from the Greek “skleros”, which means hard, and “derma”, which means skin. This indicates that skin hardening is the most characteristic feature of the condition. As well as the skin, it can also affect the digestive tract, lungs, kidneys and heart. The prognosis varies. There is currently no cure, but the condition can be treated with general measures and treatment of symptoms, depending on the organs affected.
Raynaud syndrome: one of the most characteristic manifestations of the condition (97% of cases), it is the first clinical expression in most patients. It is caused by vasoconstriction of the capillaries. Patients report that with the cold their fingers change colour and turn pale (like wax) first, then turn blue after a while and finally turn reddish. The presence of Raynaud syndrome is not always an indication of scleroderma. In reality, only 5% of people with Raynaud syndrome later develop the condition. Almost half of sufferers may have digital ulcers, as an expression of a severe microcirculatory injury.
The most peculiar manifestation of the disease is the way it affects the skin. It is hard, tight and wrinkle-free (hard to pinch). The extent of the skin condition varies and is related to the prognosis. Two clinical forms are distinguished: limited (distal skin condition to elbows and knees) and diffuse (distal and proximal skin condition to elbows and knees, and torso). The face can be affected equally in both clinical forms. The limited subtype has a better prognosis than the diffuse one. Reduced aperture of the mouth (microstomy) may also be seen. In the skin there are hyperpigmented and coloured areas, telangiectasia (accumulation of small blood vessels) and sometimes subcutaneous calcium deposits can be felt (calcinosis).
Most patients experience joint and muscle pain, and in extreme cases contraction and retraction of the fingers are observed. When the digestive tract is affected, which often happens, the patient complains of a burning sensation and difficulty swallowing, as the oesophagus has lost its ability to move food towards the stomach. Pulmonary disease is the leading cause of death and may occur in the form of fibrosis or pulmonary hypertension; coughing, choking and heart failure are the main manifestations of lung involvement. When the heart is affected, heart rhythm disturbances and in some cases symptoms of angina pectoris are detected, due to the involvement of the small coronary vessels. In a small percentage (about 5%) scleroderma alters the kidney (scleroderma renal crisis) and manifests itself as malignant arterial hypertension and kidney failure.
It should be noted that not all patients with scleroderma present all the manifestations described above. It can also be concluded that there is great, almost individual, variability in the clinical expression of the disease.
Scleroderma is a rare disease with an incidence of 4-18.7/million/year and a prevalence of 31-286/million. It is more common in females, with a variable ratio, depending on the series, ranging from 3:1 to 14:1 (female/male). The age at which it presents is around 30-40 years.
When the above symptomatology is clear, the diagnosis does not offer too much room for doubt. Various complementary tests are helpful in confirming diagnosis and in assessing the degree of involvement of the various organs that may be affected.
“An incurable, but not untreatable condition”. There is currently no treatment for scleroderma that has satisfactory results, but this does not mean that it cannot be treated. Treatment is symptomatic, depending on the organ affected. For Raynaud syndrome: vasodilators, antiplatelets; gastro-oesophageal reflux: proton pump inhibitors; renal crisis: angiotensin converting enzyme inhibitors/dialysis; pulmonary fibrosis: immunosuppressants/lung transplant; pulmonary hypertension: vasodilators/lung transplant. In patients with the diffuse form and less than three years of evolution, immune modulators such as mycophenolate sodium (or mycophenolate mofetil) or methotrexate may be indicated as a basic treatment.
The most common tests to confirm and/or assess the degree of involvement of the various organs are: general analyses and immunological data (specific antinuclear antibodies); capillaroscopy, high-resolution computerised axial tomography scan of the chest, respiratory functional tests, oesophageal manometry and echocardiogram. In the follow-up for these patients, respiratory functional tests and an echocardiogram should be performed annually.
Chronic obstructive pulmonary disease or COPD is a respiratory disease that leads to obstruction of airways. The main symptoms are coughing, hawking and difficulty breathing, requiring particular effort. Although it can be due to other reasons, it is mainly caused by exposure to tobacco smoke. The main treatment is bronchodilators administered using an inhaler.
COPD is a respiratory disease that mainly appears in smokers or ex-smokers and causes the airway to become obstructed or blocked.
The main symptoms are coughing, hawking and difficulty breathing, requiring particular effort. Patients with COPD can also present with infection or worsening of symptoms, known as exacerbation.
The illness mainly affects smokers and ex-smokers. It is also associated with exposure to other sources of smoke, such as biomass smoke. In a small proportion of cases it may be due to genetic causes. The prevalence of COPD is up to 10% of the adult population aged over 40 in Spain.
Diagnosis of COPD is confirmed using a respiratory test: spirometry. This is a very simple test that can be conducted in a primary care centre (CAP). This test should be performed on all individuals over the age of 40 with a history of smoking who have respiratory symptoms such as breathlessness or coughing.
Typical treatment for COPD involves using bronchodilators administered via an inhaler. There are two different types of bronchodilator that may be administered together or separately, depending on each patient’s needs. The aim of this treatment is to reduce the sensation of breathlessness and the number of exacerbations and improve lung capacity. In some patients, administering corticosteroids via inhaler may also be necessary. The best treatment for COPD is stopping smoking.
As well as spirometry, other tests that may be required include chest x-ray, CAT scan, sputum culture or other more complete breathing tests. A blood test is normally performed to rule out genetic causes.
As tobacco is the main risk factor, the best prevention for COPD is not smoking. Exposure to environmental pollution and passive smoking should also be avoided.
Rare factor deficiencies are a group of inherited clotting disorders caused by a deficiency of one or more clotting factors. Clotting factors are involved in a series of reactions to prevent bleeding. Within this set of deficits, factors I, II, V, V + VIII, VII, X, XI or XIII are considered to be affected.
Although in general they do not usually produce spontaneous bleeding, surgery or invasive procedures require prior evaluation of the patient and consideration should be given to administering the appropriate treatment according to the type of procedure and the type of deficit.
It should be noted that most factors usually have a good correlation between factor levels and clinical signs, for example, in factor deficits FI, FII, combined deficit of FV and FVIII, deficit of FX and deficit of FXIII. In the case of VF and VII, however, the correlation is not so clear and with FXI there is usually no correlation between levels and clinical signs.
In general, there is usually bleeding after invasive procedures such as tooth extraction, caesarean section, surgery, epidural anaesthesia, etc. Patients may also present with mucosal bleeding, nosebleeds, heavy-flow menstrual periods, intestinal bleeding, etc.
As it is a genetic disorder, it can appear at all ages. Generally, with a factor level of >20%, haemostasis is ensured in order to conduct a normal daily life, although it is necessary to personalise treatment according to the deficit factor and the characteristics of each patient.
Diagnosis is made in the haemostasis laboratory:
Treatment will depend on the patient’s clinical signs and symptoms, the haemostatic levels required to perform surgery, etc. In mild cases, administration of antifibrinolytics may be sufficient, and in others administration of recombinant factor if available; otherwise plasma or APCC may be used.
The aforementioned laboratory tests.
Arthrosis is a degenerative process characterised by lesions of the cartilage in joints. A joint is the area where a bone connects with another bone, allowing movement. Cartilage is a tissue that covers the joints, acts as a shock absorber for impacts, and also allows the joints to move without friction. Normally, this condition appears in the spinal column, neck, hip, knees, and hands.
Symptoms
The most common manifestation is pain that improves with rest, stiffness when initiating movement, deformities, and difficulty moving the affected joints. There can be a certain degree of inflammation, which will cause swelling due to the excessive accumulation of liquid in the joint.
However, it must be differentiated from arthritis, which is a rheumatic inflammatory disease rooted in joint inflammation that can cause pain which does not improve with rest. Arthrosis is often also called osteoarthritis, which can create some confusion.
Prevalence
This disease is very prevalent and has a high social and health impact. The EPISER2016 study, by the Spanish Society of Rheumatology, showed that the prevalence in the population over 40 years of age is 29%.
Causes
Age is the main risk factor. It is more frequent in women. A deterioration of the cartilage is clearly associated with obesity and a lack of regular physical exercise. A misaligned joint or poor posture can also be predisposing factors. Sometimes the cause is a traumatic injury or previous disorder of the affected joint. It has a genetic component (especially arthrosis of the hands).
Diagnosis
A diagnosis is obtained by looking at the symptoms, physical examination, and the imaging tests.
Treatment
Treatment for this disease is aimed at improving symptoms and quality of life for patients while slowing down its clinical evolution. A treatment plan must be individually prepared for each patient and type of joint.
Non-pharmaceutical treatment is essential. We recommend:
Pharmacological treatment normally consists of conventional pain relievers such as paracetamol, which is the analgesic treatment of choice. There are slow-acting treatments, such as chondroitin sulphate (taken orally) or hyaluronic acid (given as an injection), which can improve pain, especially in arthrosis of the knees. Surgery (joint replacement) is reserved for cases in which the joint is destroyed and other measures have failed.
A rare chronic blood disease that is slow to develop. It is characterised by increased platelet production and is associated with greater risk of thrombosis (clotting) and bleeding. Patients with essential thrombocythemia are usually asymptomatic and it is detected during routine blood tests. There is currently no cure for this condition and treatment is targeted at preventing complications. It is included within the group of chronic myeloproliferative disorders, which are a type of blood cancer that is slow to develop. Its cause is not known, although there are mutations known to be associated with the condition in 80% of cases. It is not hereditary, but some families may have several members affected by it.
It is characterised by increased platelet production and is associated with greater risk of clotting in the arteries and veins, or in some cases with bleeding.
It is a chronic illness that cannot currently be cured, with a normally benign evolution. It can be effectively controlled over long periods and generally has little impact on daily activities and work. Patients with this condition have increased risk compared to the general population of developing other blood diseases, such as acute leukaemia or myelofibrosis.
Useful contacts
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Gemfin: https://www.gemfin.es/informacion-pacientes/
Many patients show no symptoms, either when they are initially diagnosed or as the condition evolves. Different combinations of symptoms may appear, such as tiredness, itching, night time sweating, aching bones and headaches.
The severity of symptoms varies a lot depending on the patient.
It is considered a rare disease, with a low incidence of 1.5-3 cases per 100,000 inhabitants. It mainly affects people aged 60-70 years and to a lesser extent young people. It is more common in women
It is normally diagnosed through blood tests that show a sustained increase in platelet count.
A bone marrow biopsy can be performed for diagnosis, which, together with the analysis, will allow the determination of risk factors for the progression of the disease, which in turn guide treatment.
It is usually associated with genetic mutations that support diagnosis.
Administering antiplatelets or drugs to reduce the number of platelets is not always indicated.
The aim of treatment is to prevent complications due to clotting and bleeding, as well as controlling the symptoms related to this condition. Depending on the risks and symptoms, the haematologist will therefore determine when to start treatment.
There are special circumstances, such as pregnancy, in which a multidisciplinary approach is required.
It is usually controlled by analysis.
The most important thing is to prevent clotting complications associated with this condition by controlling cardiovascular risk factors (high blood pressure, dyslipidaemia, smoking, obesity, sedentary lifestyle) and following the treatment recommended by your haematologist.
A rare slow-growing chronic blood cancer. It is mainly characterised by increased production of red blood cells, associated with greater risk of clotting, both in veins and in arteries. It has non-specific symptoms, such as increased facial redness and bodily itching. Although there is currently no cure, it can be effectively controlled.
It is included within the group of chronic myeloproliferative disorders. Its cause is not known, although there are known mutations associated with it in the JAK2 gene that occur in 98% of cases. It is not hereditary, but some families may have several members affected by it.
It is characterised by increased production of red blood cells (the number of white blood cells and platelets may also go up) and is associated with increased risk of clotting in arteries or veins.
It is a chronic disease, which cannot currently be cured. It can be effectively controlled over long periods and generally has little impact on daily activities and work. Patients with this condition have increased risk compared to the general population of developing other blood diseases, such as acute leukaemia or myelofibrosis.
There may initially be no symptoms. Facial redness is characteristic of this condition. Patients often present with tiredness, headaches, dizziness and itching (particularly after showering). They may also experience abdominal pain due to increased spleen size.
It mainly affects patients around 60 years old and is a little more common in men than in women.
Mainly done through an analysis revealing high levels of haemoglobin and haematocrits. The number of platelets and white blood cells may also be elevated. A molecular test is also sometimes conducted (JAK2 gene mutation). Other tests may sometimes be needed to complete the diagnosis, such as a bone marrow biopsy.
Treatment aims to prevent complications and control symptoms. It is based on decreasing excess red blood cells by phlebotomies (blood extractions performed in the blood bank). Except for some contraindications, patients require antiplatelets (acetylsalicylic acid). Other drugs to reduce red blood cells may also be indicated.
The most important thing is preventing clotting complications associated with this condition by controlling cardiovascular risk factors (high blood pressure, dyslipidaemia, smoking, obesity, sedentary lifestyle) and following the treatment recommended by your haematologist.
They are a heterogeneous group of blood stem cell cancers characterised by altered haematopoiesis (production of blood elements), which results in normal or hypercellular bone marrow, but due to a high rate of death in blood cells in the bone marrow, peripheral blood cells are scarce (cytopaenia) and morphologically abnormal (dysplasia).
Clinical progression in patients with MDS varies and they may be at increased risk of developing acute leukaemia, depending on the subtype of MDS.
They may appear de novo or secondary to cytotoxic treatments or radiotherapy.
Patients with MDS often show no symptoms and diagnosis occurs as a result of analytical testing. When symptoms do appear, however, they are most often secondary to cytopaenia. The most common are weakness, paleness, palpitations or feeling short of breath with exertion due to decreased haemoglobin (anaemia). Sometimes, infections may appear as a result of lack of white blood cells (neutropaenia) or bleeding due to the low number of platelets (thrombocytopaenia). These symptoms are not specific to the condition and therefore those with persistent appearance of these symptoms should consult their GP.
MDS are not common conditions. 3-4 new cases are detected each year for every 100,000 people. They are more common in patients over 65 years old (75 cases/100,000 people) and they are twice as common in men as in women.
The diagnostic process begins with an analysis to look for cytopaenia. Once other causes that may justify cytopaenia are ruled out, a bone marrow exam is conducted using bone marrow aspiration (this is the organ responsible for producing the blood elements).
Bone marrow aspiration consists of a puncture in the breastbone or in one of the pelvic bones, performed with a fine needle under local anaesthesia. 4-10 ml of bone marrow is extracted through aspiration. In rare cases, it is necessary to remove a bone core by puncture biopsy with a thick needle (Tru-cut). Sometimes, the test needs to be repeated after some time to confirm the diagnosis.
Treatment will depend on the biological characteristics of the condition and the patient’s general state of health.
It is based on:
1. Support treatment through blood transfusions.
2. Treatment using drugs that aim to restore correct bone marrow function.
3. Bone marrow transplant. Replacing the bone marrow of the person affected with that of a healthy person who is immunologically compatible. This option is very aggressive and can therefore only be offered to a certain group of young patients in good physical health and affected by a specific group of MDS.
4. Clinical trials. Studies that use new drugs with proven efficacy in this group of conditions.
Lung cancer is the general name for neoplastic lung disease in which there is the presence of tumour cells. There are different types of lung cancer, but all of them share tobacco use as a risk factor. It is usually detected by the symptoms it causes, but it can also be an incidental finding in an examination conducted for a different reason.
Lung cancer originates when a set of cancer cells proliferates and produces a local compromise in the space occupied. These cells have a tendency to spread (metastasis) to other organs and, as their biological behaviour is completely abnormal, they produce atypical neurological, dermatological or endocrine signs. There are different types of lung cancer from a cell classification perspective, which require different treatments and prognosis. Lung cancer is always a serious illness, with an overall low survival rate estimated at 20% of patients after 5 years.
Research into this disease in the last few years has led to new treatment strategies, which in some cases cause the disease to go into remission for long periods.
90% of people will have symptoms caused by local tumour growth, including non-specific respiratory symptoms such as coughing and difficulty breathing, or in some cases coughing up blood.
There can also be a wide variety of symptoms: pleural effusion (presence of fluid in the pleura), involvement of the nerve roots that pass through the chest, skin disorders and endocrine disorders because the tumour may produce products that are similar to normal hormones.
It affects both sexes, with a predominance in males. Incidence of lung cancer in women has shown a very worrying increase in the last few years. Although it can be seen in people who have never smoked, a history of smoking is almost always found.
A suspected diagnosis will be made in the clinic and imaging tests will then be conducted in the following order: Chest x-ray, CAT, PET-CT to confirm the suspicion. The types of cells involved will then be ascertained through pleural tap or bronchoscopy. Final diagnosis is always reached by confirming the presence of tumour cells, which is done by the Pathological Anatomy Department.
Lung cancer treatment must be personalised. Surgery can play its role, both in diagnosis and in treatment, as well as radiotherapy, chemotherapy, immunotherapy and the use of biological drugs aimed at blocking certain cell receptor, which are different in each patient.
The typical tests for diagnosis are chest radiography, CAT, PET-CT, pleural aspiration/tap and bronchoscopy.
In order to prevent lung cancer, completely abstaining from tobacco use is essential. Exposure to certain environmental toxins specific to some working environments, such as arsenic, asbestos and chrome should also be avoided.
Myelofibrosis is included within the group of chronic myeloproliferative disorders. It may appear de novo (primary) or following polycythaemia vera or essential thrombocythaemia.
It is characterised by bone marrow fibrosis, progressive defect in blood cell production and marked presence of constitutional symptoms, as well as an enlarged spleen and liver that attempt to compensate for the production of red blood cells.
Approximately one third of patients have no symptoms. Diagnosis is made by studying alterations in control analyses.
The symptoms appear gradually, with marked tiredness, night time sweating, fever, loss of muscle mass, loss of appetite and abdominal pain being the most common. They are not exclusive symptoms of this disease, so if they are present, it is advisable to consult your GP who will refer you to the corresponding haematology department if they suspect a diagnosis of myelofibrosis.
It is a disease that can remain stable for a long time, or present in very symptomatic forms.
It is considered a rare disease, with a low incidence of 5-7 cases per million inhabitants per year. It mainly affects people aged 60-70 years.
Diagnosis begins with the study of the aforementioned symptoms, of alterations in the physical examination (such as an increase in spleen size) or of alterations in the analysis such as anaemia, decreased white blood cells and platelets, among others.
A bone marrow biopsy can be performed for diagnosis, which, together with the analysis, will allow the determination of risk factors for the progression of the disease, which will guide treatment.
Treatment is determined by the risk of disease progression, patient characteristics and the presence of symptoms.
The only curative treatment for the moment is blood stem cell transplant, which can be offered to a small group of patients, as it usually presents in older patients who are not candidates for this type of treatment.
Therefore, the main goal of treatment today is to control symptoms and prevent complications. Drugs such as erythropoietin, danazol and others, including blood transfusions, are used to control symptoms related with anaemia.
To control symptoms or increased spleen size, hydroxyurea and ruxolitinib are mainly used.
Clinical trials exist that seek to improve current treatment. Consult your haematologist to find out which are available.
It is usually monitored with analyzes.
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