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Legionnaire's disease is a disease caused by the bacteria Legionella pneumophila, that lives in contaminated water circuits such as water pipes, water tanks or reservoirs, cooling towers, swimming pools and jacuzzis.
It is contracted through the inhalation of contaminated water droplets, whether physically in the water or merely close by, due to the fact that it can spread from the water to the surrounding environment.
It normally causes a respiratory infection similar to pneumonia which if not diagnosed and treated early can be serious and life-threatening.
Legionnaire's disease causes the same symptoms as pneumonia (fever, chest pain, difficulty breathing), along with severe muscle pain and major impact on the feeling of general wellness.
Legionnaire's disease can affect anyone who has come into contact with the bacteria which cause it, but it is more common among the elderly or people with a compromised immune system who have either come into contact with or breathed the vapour of water contaminated with legionella.
A diagnosis is reached through detection of the bacteria or its antibodies in the blood, once suspected due to the clinical characteristics of the patient (age of onset, fever, major impact on general wellness, muscle pain) or radiographies (indirect pulmonary pneumonia indirectly affecting the lungs). Isolation of the bacteria is relatively recent, as it requires special culture processes.
In fact, legionella was not identified as the cause of respiratory infection until 1976 during a pneumonia epidemic in the American Legion Convention in Philadelphia, to which it owes its name.
Legionnaire's disease responds well to specific antibiotic treatment.
Early treatment is very important.
Chest x-ray, determination of legionella antibodies in the blood, specific cultures for the identification of legionella.
Epidemiological surveillance of detected cases (water pipes, air conditioning towers, swimming pools or jacuzzis involved) is very important for disinfection.
When a case of Legionnaire's disease is detected, public health authorities must initiate an investigation in order to find the source and eradicate it.
Legionella is not resistant to high temperatures and can usually be eliminated by intermittent increasing of the temperature of the pipes. This should always be carried out by a professional to ensure the proper elimination of the bacteria.
Infectious endocarditis involves the presence of a microbial infection in the endocardial surface (internal surface of the heart). It is the most frequent cardiovascular infection and it is very important because of its potential severity and its different forms of presentation.
Infectious endocarditis mainly affects cardiac valves, whether natural or artificial, although sometimes it can occur in other structures of the heart.
It is classified according to the time the infection has been established (days, weeks or months) and according to the bacteria or microorganism (yeast, fungus) that causes it.
The characteristic lesion of infectious endocarditis is endocardial vegetation. It is made up of the completely abnormal presence of an aggregate of platelets, fibrin, bacteria and inflammatory cells that adhere to the internal surface of the heart, usually on the surface of a cardiac valve, and which is susceptible to breaking off, causing an infectious embolism at a distance in another organ (skin, nervous system, limb).
It is considered a serious illness and although in most cases it is cured, it also has significant complications and mortality despite treatment. In many cases, patients must be subjected to surgical intervention in order for it to be definitively cured, eliminating the affected tissue and inserting a new artificial heart valve.
In its most acute form infectious endocarditis can produce high fever, chills, prostration and severally affect the patient's general condition in a short time period (hours-days). In subacute forms it may evolve over weeks or months, with a clinical presentation of tiredness, lack of appetite and low-grade fever. In these cases, infectious skin manifestations may also occur as nodules or characteristic spots, which do not always appear.
In patients with severe cardiac valve involvement, the valves themselves may not function correctly, which may result in symptoms of heart failure such as severe shortness of breath and swelling of the lower limbs
Infectious endocarditis has a global incidence of 2-3 cases per 100,000 population per year, and so it is estimated that in Catalonia around 200 cases are diagnosed every year. Its incidence increases greatly with age, reaching 15-30 cases/per 100,000 population/year in over 65s, or 10 times higher than that of the younger population.
The cause of infectious endocarditis has changed a lot in recent decades. In recent years the most frequent causal bacterium has been streptococcus, especially a species called viridans. There is currently a great variety of causal agents, although staphylococci are the most frequent, followed by streptococci and enterococci. It is, however, advisable to note that any microorganism that circulates through the blood can adhere to a heart valve, especially if it has previous injuries or is an artificial valve.
The diagnosis of endocarditis is based essentially on:
- blood cultures to identify the bacterium that causes the infection and allow the most suitable specific antibiotic treatment to be chosen.
- echocardiogram that allows the endocardial vegetations typical of the disease to be located. It also informs doctors about the function of the valve affected and contributes significantly to assessing the need for surgical treatment in some patients.
- in some cases it is necessary to carry out other explorations (such as CAT or scintigraphy) to rule out the existence of peripheral embolisms, which are very common at the time of diagnosis or during the course of treatment of the disease.
The treatment of infectious endocarditis is antibiotic, but specifically targeting the microorganism that causes it. The doses are high and prolonged over time because the vegetations typical of the disease are not very vascularised and antibiotics must penetrate through diffusion from circulating blood. In patients who do not respond adequately to this antibiotic treatment or who have major valve damage as a consequence of the infection, it is necessary to assess the need for valve replacement surgery.
Blood cultures and echocardiogram, both at the time of diagnosis and to monitor the evolution of the illness.
When an alteration of a person's heart valve is recognised, antibiotic prevention must be administered before any dental or gum treatment is given, following specialised consultation.
Preventive measures must also be taken in the case of endoscopes, especially of the upper gastrointestinal tract (gastroscopy), with the antibiotic and guidelines indicated by the doctor.
This prevention is very important because the presence of bacteria in the blood, as a result of the intervention or exploration, carries a significant risk of infectious endocarditis.
Blood smear - making a small prick in a finger in order to assess cell morphology. This prick is used to conduct a morphological examination of blood cells, allowing a first approximation and examination of possible diagnoses.
A blood smear or peripheral blood test is performed by obtaining a blood sample through a finger prick (a puncture in the fingertip with a very fine needle) or a venipuncture (extraction from a vein), and carefully spreading a drop of blood on a glass slide until it forms a very thin film. The cells are then stained and the morphology of the cells is analysed under an optical microscope.
Microscopic study of a peripheral blood smear allows the cells present in the blood sample to be seen directly and their morphological characteristics analysed (shape, size and cell organelles such as the nucleus or granulation characteristic of some cells, and also inclusions, deposit of substances, and even microorganisms such as parasites or bacteria).
Using this test, we can check if the cells have a normal or altered appearance. If any alterations are detected, they can be described and an overall interpretation of the exam can be drawn. This allows the suspicion of various diseases to be ruled out or confirmed, both blood and non-blood-related conditions. It also allows observation of the effects that other conditions within the body have on blood cells, such as infections, haemorrhages, trauma, etc.
If the blood smear suggests the presence of a blood or bone marrow disease, it may be necessary to conduct bone marrow aspiration and/or biopsy to confirm the diagnosis.
This is a puncture and aspiration of the bone marrow using a fine needle under local anaesthesia. Bone marrow material is aspirated through the needle (in the case of aspiration) or a small, cylindrical sample is obtained from the bone marrow inside the needle (in the case of biopsy).
This technique serves to study the bone marrow. It is essential for the diagnosis and monitoring of many blood diseases, as well as screening for other conditions. A bone marrow exam enables diagnosis of bone marrow or blood cell diseases such as leukaemia, lymphoma, myeloma, myelodysplastic syndrome, as well as non-haematological diseases that may affect the bone marrow, such as tumours from other origins, deposit diseases, etc. Following treatment of these diseases, bone marrow exams also help to evaluate treatment efficacy.
The area is sterilised with iodine and then local anaesthesia is applied. A fine needle puncture is then performed and the bone marrow (material from inside the bones) is aspirated. It is a simple technique that is usually practised on the hip bone (iliac crest) or the sternum. The aspirated material is subjected to different diagnostic procedures such as smears to assess cell morphology, microbiological cultures, immunophenotyping techniques, cytogenetic and molecular studies.
Aspiration and biopsy are simple techniques that are performed as out-patient procedures (they do not require admission to hospital) and under local anaesthesia and/or sedation. The total duration of the procedure is approximately 30 minutes, and at the end the patient can go home, needing only minor oral analgesia in case of local discomfort. A small bruise may occur at the puncture site, but this is not common.
A procedure that, by introducing a flexible tube (bronchoscope) into the nose or mouth, allows the bronchial tree to be viewed, for diagnostic and/or therapeutic purposes.
To examine the bronchial tree and obtain samples of secretions or tissues for analysis with the aim of gaining an aetiological diagnosis of the causative illness. It can also be a therapeutic test, allowing suction of secretions or clots, extraction of foreign bodies, permeability of the airway in lung tumours and treatment of complications resulting from lung transplant.
With the patient normally lying down and consciously sedated, the bronchoscope is introduced into the airway, administering local anaesthesia in the passageways (larynx, trachea and bronchi). After examining all the bronchi and identifying any possible lesions, samples are taken, which may include: bronchial aspiration, bronchoalveolar lavage, bronchial brushing, transbronchial puncture, bronchial biopsy or transbronchial biopsy.
Minor undesirable affects may appear, such as snoring, cough, fever, localised pain, nausea or sickness and coughing up small amounts of blood, which are usually self-limiting and present no risk to life. Less commonly, major complications may occur, such as haemorrhage, low blood pressure, high blood pressure, pneumothorax (entry of air into the thorax outside of the lung). In very rare cases, complications such as arrhythmia or arrest of the heart, respiratory depression or arrest and acute stroke, may be severe and require medical or surgical treatment, including a small risk of death.
Rigid bronchoscopy, CT-guided needle lung biopsy, mediastinoscopy, surgical lung biopsy.
Pain is a phenomenon that involves several different realms: biology , psychology, and social relations. It’s triggered when the body’s alarm system tells the brain that it’s in danger of being injured, whether this danger is real or not.
We feel pain when the brain “reaches the conclusion” that it is in danger and that it needs to do something, which sometimes involves activating the “pain programme”. In this context, it is crucial to discover why the brain reaches the conclusion that there is a threat.
Feeling pain does not always mean that there is any damage or injury. We can feel it without there being an injury. For example, when we see our child fall and hurt themselves. But there can also be an injury without pain; have you ever had a wound or scratch appear and not even remembered or felt it when you hurt yourself?
The intensity of pain is not related to how bad the injury to the tissues is. Does the same punch hurt the same every time and the same for everyone? Do the stitches from a C-section hurt the same for everyone?
Pain is generated in the brain, not in the tissues. We have “danger sensors” throughout our bodies that send signals to the brain, which will use that information and other factors to decide whether to activate the pain or fatigue programme.
It is always the brain that decides whether to generate pain or not. 100% of the time, if it believes itself to be in danger, it will decide to do so based on several variables: context, previous experience, beliefs, emotions, etc.
Patients with fibromyalgia and chronic fatigue syndrome might feel more pain than other people or might feel pain in response to stimuli that do not normally trigger pain, such as a caress.
These processes occur because the brain activates the pain or fatigue programme to protect the individual from the danger it believes there to be, even though this danger does not really exist, as the brain interprets reality incorrectly.
Pain is always real, it is not consciously brought on, nor is it made-up, nor is it a figment of people’s imaginations. It is not a psychological problem. Someone who suffers from fibromyalgia or chronic fatigue is not to blame for their condition, but they are responsible for being involved in their treatment using active strategies.
The first step towards getting better is understanding what is happening in your brain and what is causing your pain. Do not let pain dictate your life and limit what you can do.
The advice for patients discharged with a diagnosis of lupus is aimed at restoring health and detecting any complications associated with the illness early. Diet, moderate physical activity, sun protection and sticking with medicines prescribed are fundamental to staying healthy.
Patients with lupus who have been hospitalised should bear in mind a series of indications when it comes to re-establishing their normal routine:
You must always take medication as prescribed by medical personnel and see your doctor if you get any of the following symptoms:
Autoinflammatory syndromes are a group of conditions characterised by spontaneous, recurring or persistent episodes of multi-systemic inflammation. They are caused by changes to innate immunity that cause deregulation of the immune system. Autoinflammatory conditions, due to various genetic mutations, cause a pathological hyperactivity in this structure, which unleashes abnormal, continuous inflammatory activity. The number of conditions the group includes has increased since then, due to the advances in genetics and immunology.
The main symptom of many of the conditions included in the group is repeated episodes of fever, which spontaneously disappear after a few days, only to reappear again cyclically after a variable period of time. This fever is not caused by an infection and, therefore, does not respond to treatment with antibiotics or antiviral medication. Depending on the genetic defect, these conditions may be associated with a wide diversity of other manifestations, including skin, abdominal, joints, eyes or lungs.
All the conditions within the group are infrequent and have an incidence of less than 5 cases per 10,000 inhabitants, for which reason they are considered to be rare conditions. The majority appear in infancy or adolescence.
Recent progress with research has clearly shown that some fevers where the cause is not found are provoked by a genetic defect.
Depending on whether or not they have a genetic cause, they can be classified as follows:
The diagnosis is based on the clinical features of each patient’s clinical picture. Blood tests are important in diagnosing the various autoinflammatory conditions, as they enable detection of the existence of inflammation. These analyses are repeated when the child is asymptomatic to see if they have normalised. Molecular or genetic analysis enables detection of the presence of mutations involved in the development of autoinflammatory conditions which are studied in patients suspected of suffering from them according to the features of the clinical picture. The diagnosis is confirmed when the patient shows evidence of being a mutation carrier and it is often necessary to study family members too.
Treatment fundamentally depends on the type of condition and the response to the therapy chosen. For example, for familial Mediterranean fever, the treatment of choice is colchicine. Other treatments used on the various autoinflammatory conditions are cytokine inhibitors, such as IL-1 or the tumour necrosis factor α. Close monitoring of the patient is essential to prevent complications arising in the long term.
Informació pràctica com a CSUR de malalties autoinflamatòries
Chronic hepatitis usually takes a silent course and causes inflammation of the liver without presenting any serious symptoms.
Whatever the cause of the hepatitis, serious inflammation may overwhelm the capacity of a patient's liver to regenerate. When that happens, scars may appear (known as fibrosis). Where a patient has numerous scars on their liver, this is known as hepatic cirrhosis. Not all cases of hepatic cirrhosis are caused by alcohol abuse.
Chronic hepatitis is an inflammation of the liver that lasts longer than six months. Frequent causes of chronic hepatitis are:
Two thirds of patients show no symptoms of the illness by the time they have developed hepatic cirrhosis. It is at this stage they may present cirrhosis-derived symptoms such as:
Hepatitis B and C viruses are most often transmitted sexually or through intravenous injections among drug addicts. They may also be transmitted from mother to child during birth. Infection through blood transfusion is very controlled these days and practically never occurs
Toxic hepatitis is caused by exposure to toxins, some well known, others by an unexpected reaction to medicines that have no adverse effect on most of the population (idiosyncrasy). Alcohol abuse is the most common toxin.
Hepatic steatosis is directly linked to obesity among the general population.
Diagnosis is based on three sets of features.
1. Family, personal and case histories
Patients suffering from chronic hepatitis usually present histories that help with the diagnosis, such as alcohol abuse or intravenous drug injections, use of certain medicines, being a child of a mother with HCV or HBV, or obesity. As for people with autoimmune hepatitis, they or their direct family members may present other autoimmune illnesses (such as diabetes, ulcerative colitis, lupus, vitiligo.)
2. Physical examination
Patients may show characteristic signs of portal hypertension (ascites, spider angiomas, reddening of the palms of the hands, collateral circulation in the abdomen). In the case of non-alcoholic steatohepatitis, patients are overweight/obese.
3. Complementary examinations:
- General analysis: Analytical tests can be taken to reveal inflammation of the liver (transaminases) and loss of its synthetic (coagulation and albumin tests) and purification (increased ammonium) functions. At the same time, a systemic detection can be made of the cause of the inflammation (viral serologies in cases of suspected virus illness, autoantibodies and immunoglobulins for autoimmune hepatitis, copper in urine and caeruloplasmin for Wilson’s disease, etc.)
- Imaging tests (abdominal ultrasound and CT scan) show the presence of a heterogeneous liver with probable fibrosis. Nodular margins and indirect signs of portal hypertension (collateral circulation, splenomegaly, etc.) can be seen with patients presenting hepatic cirrhosis.
- Elastography may reveal the presence of hepatic fibrosis and determine its severity.
- Hepatic biopsy: may be used for helping with a differential diagnosis (accumulation of copper in Wilson's disease, interface hepatitis in autoimmune hepatitis, macrovesicular steatosis in non-alcoholic steatohepatitis, etc.) It will also reveal the extent of the hepatic fibrosis/cirrhosis.
Treatment will depend on the cause of the chronic hepatitis.
- Viral hepatitis; hepatitis B and C viruses require specific antiviral treatment. In the case of hepatitis C, new direct-acting antivirals have radically changed the prognosis for patients, so that it is now a disease which is curable with few side effects.
- Hepatic steatosis requires a change of patient lifestyle (balanced diet and exercise). Several pharmacological treatments are currently being studied which could help to lessen the build-up of fat in the liver.
- Autoimmune hepatitis; this has a specific treatment where the defence system is modulated with corticoids and Azathioprine.
- Wilson's disease; this is an illness that causes copper to build up in the liver and other organs. Treatments are aimed at increasing the elimination of copper through urine (D-penicillamine) or at reducing its absorption (zinc salts)
Mainly analytical tests for diagnosing the cause of the inflammation of the liver and evaluating its dysfunction, and elastography to assess the extent of fibrosis.
Poliomyelitis is a highly contagious disease caused by any of the three human poliovirus serotypes, which are part of the enterovirus family. Europe was certified free of poliomyelitis in June 2002. Immunisation and vigilance of the disease continue to ensure the region is free of poliomyelitis. Post-polio syndrome has no defined causal mechanism but it affects between 20% and 80% of patients afflicted with poliomyelitis.
Initial symptoms are those of a influenza-like illness (fever, headache, joint and muscle pain, vomiting, among other things) and can last up to 10 days. Its most serious forms may cause respiratory paralysis leading to death. Post-polio syndrome presents a new neurological weakness that may be progressive or abrupt on muscles previously affected or unaffected. It may or may not be accompanied by new health problems such as excessive fatigue, muscle pain, pain in the joints, intolerance to cold, reduced physical stamina and function, and atrophy.
It mainly affects children and the mechanisms for its transmission may be through faecal-oral channels or a common vehicle (contaminated water or food).
Post-polio syndrome affects patients who have had poliomyelitis for 20 years or more.
Diagnosis is given clinically, supplemented with laboratory and electromyographic (EMG) tests.
Symptomatic treatment with analgaesics, a ventilator where necessary, gentle exercise and possibility of orthopaedic devices to prevent deformities or to enable function.
In acute diagnoses, studying secretions, stools and cerebrospinal fluid. EMG in acute and later stages for diagnosing post-polio syndrome.
Poliomyelitis has no cure but it can be prevent by vaccination.
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