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Meningococcal disease (meningitis) is a serious infectious illness caused by a bacterium called “meningococcus”, which is transmitted through pharyngeal and nasal secretions.
The risk of contracting meningitis increases if you come into close contact with someone who has it (if you sleep in the same room, live in the same house, kiss on the cheek, etc.), but there is no need to disinfect objects or areas because meningococcus bacteria do not live long outside of the human body.
The measures to prevent this illness are:
With meningitis, the appropriate measure is to administer antibiotics to the family and other people who live with the affected person.
If the illness was caused by meningococcal group B, the only preventive measure, and the most common in Spain, is chemoprophylaxis, which aims to eliminate the microorganism from the pharynx. This stops it from spreading, in the space of a few days, between the people who have taken the medication.
If the illness was caused by meningococcal group C, as well as administering chemoprophylaxis, people close to the affected person will be vaccinated if they have not already been so.
If there is evidence that someone has had intimate contact with the patient in the ten days prior to the occurrence of the disease, and they have not been administered chemoprophylaxis, healthcare staff must be informed.
Currently, Zika virus mainly affects some countries in Latin America. In order to avoid the risk of being infected, therefore, we advise travellers not to visit those countries during pregnancy. As there is still no vaccine to prevent the virus, prevention measures are fundamental to avoiding infection.
The advice to prevent infection with Zika virus is particularly aimed at pregnant women or those thinking of becoming pregnant in the short to medium term. The possibility of transmitting the infection to the foetus means that pregnant women are the most vulnerable group. For this reason, you are advised to:
Another way of preventing mosquito bites is to avoid proliferation of mosquitoes, which you can do by finding out and periodically checking the areas where these insects reproduce. Once breeding points are located, the measures should focus, as appropriate, on:
Infants with a primary immunodeficiency (PI) are more susceptible to recurring, lingering, serious and uncommon infections. For this reason, you need to take into account the precautions required to prevent them.
Primary immunodeficiencies are a group of genetic disorders in which the immune system functions improperly. There are more than 300 different types of primary immunodeficiency illnesses (PI), from fairly minor illnesses to other more serious ones that may prove fatal if not treated properly.
Regardless of the age at which the illness begins, it should be considered a chronic process for life. The initial symptoms resemble common illnesses (sinus infection, ear infection, fever, etc.) and this can lead to a delay in their diagnosis.
The following warning signs may cause suspicion of an immune deficiency:
These infants are more susceptible to recurring, lingering, serious and unusual infections. At the same time, they are more likely to suffer from autoimmune diseases, allergies and abnormal tissue growth.
For this reason the necessary precautions must be taken to prevent infections. The strictness with which these measures must be applied will depend on the seriousness of picture presented and will have to be agreed with medical personnel:
The treatment chosen is up to your paediatrician and will depend on the type of PI and other factors. Most infants will, however, need the following treatment:
There are currently excellent collaboration channels between the biggest PI organisations, which provide optimum connections between medical staff and scientists (ESID - European Society for Immunodeficiencies), nursing staff (INGID - International Nursing Group for Immunodeficiencies) and patients (IPOPI - International Patient Organisation for Primary Immunodeficiencies).
In Catalonia, the Associació Catalana de Dèficits Immunitaris Primaris (ACADIP - Catalan Association for Primary Immunodeficiencies) aims to support patients and their families, and to campaign for the scientific community to increase research into new PI treatments. You can find further information on the association’s website: www.acadip.org.
Associació Catalana de Dèficits Immunitaris Primaris (ACADIP)
Once pulmonary hypertension (PH) has been diagnosed, pharmacological treatment should begin and the infant’s habits should be changed. Consistency in both elements is required to keep the illness under control.
It is important to take into account the following:
Pulmonary hypertension requires highly specialised treatment, therefore, each case needs to be treated in reference units with a multidisciplinary team.
Nursing staff equip the child’s main carers and, depending on their age, the child, with the knowledge, skills and aptitudes they need to manage and treat the condition at home.
Although the main symptom is difficulty breathing, initially following exercise and later when resting, the symptoms in paediatrics are non-specific and depend on the age of the child and the evolution of the illness:
Look out for the following warning signs and, if they appear, see a doctor:
Ampullary epidermolysis is a group of genetic disorders that may present themselves in various ways, from milder forms to more severe ones: affecting the skin and mucous membranes, involving the formation of blisters and vesicles after the slightest trauma. They can also affect other organs, in different ways.
The best thing is if the patients, their families and their caregivers receive comprehensive health education, especially when they are first diagnosed, during the baby’s first few days, when skin lesions can already begin to occur.
The education aimed at preventing the evolution and complications of the disease will be given by professionals from the following disciplines:
Skin affected by ampullary epidermolysis is very sensitive to the slightest pressure or friction, which then causes a blister to form. To avoid damage, bear in mind the following recommendations:
The most effective way of avoiding the illness is vaccination. The diphtheria vaccination is highly effective and is administered as part of the Systematic Immunisation Programme in Catalonia (Programa de vacunacions sistemàtiques).
Diphtheria is transmitted via the respiratory tract, mainly, and also by direct contact with a sick person or a healthy carrier of the bacteria. The illness may affect the tonsils, pharynx, the larynx, the nasal mucous membrane and, much less frequently, the skin or other mucous membranes. The bacteria forms a thick grey membrane with a dark red swollen area around it, which in the case of the nose and throat may obstruct the respiratory tract.
Some people may carry the bacteria in their nose or throat. If these people are vaccinated they will not develop the illness, but they may transmit the bacterium to other people via droplets produced when they sneeze or cough. The existence of carriers in countries with no cases of the illness is very rare.
Patients with Asperger’s syndrome need a stable and predictable environment that can be easily adapted. It is key to their well-being to establish routines according to their interests, organise their time, avoid inactivity or over intense activity as well as sudden changes. Although the syndrome has no cure, appropriate treatment and involving family members can improve the quality of life of patients.
People with Asperger’s syndrome may have different requirements depending on their age, surroundings and the awareness that they have of their difficulties. For this reason, they need a tailor-made programme that responds to their specific case.
The aim of these customised programmes is to:
It is important to manage their development through different disciplines. These may include cognitive treatments, social skills programmes and occupational therapy for the patient. You also have to consider guidelines on how to resolve conflicts and how to manage pyschoeducational groups for families or caregivers.
In infants, from an emotional and attitudinal point of view, it is important to learn to identify the warning signs in their mood. In this way, we can prevent difficulties in anger management and low tolerance to frustration, since they are patients with a high degree of sensitivity to criticism. Avoid punishment as much as possible and establish more positive reinforcement strategies.
All these guidelines must be established in a space where the differences the child or adolescent presents are valued positively, including their limitations, but also their possibilities and positive aspects.
In adults, many of these characteristics continue, as Asperger’s cannot be cured. In any case, personalised treatment, involving family members and good communication with professionals can allow a better quality of life.
Juvenile idiopathic arthritis (JIA) is a chronic disease characterised by persistent inflammation of the joints that begins before the age of 16.
There are various types of JIA which can be identified by the number of joints affected and the presence of symptoms such as fever and skin manifestations, amongst others. The diagnosis is made by observing the symptoms during the first 6 months of the disease.
The main symptoms are pain, swelling and increased heat in the joints, with stiffness and difficulty moving. Sometimes the beginning is slow, insidious and progressive. The child may be tired or irritable, if they are younger. Older children may notice stiffness when moving their joints when they get up in the morning. At other times, the beginning is acute and serious, with the presence of general symptoms such as general malaise, fever, blemishes on the skin and several swollen joints.
JIA is a relatively rare condition that affects 1 or 2 children in every 1,000.
JIA diagnosis is based on the presence of persistent arthritis and carefully excluding any other condition by using the clinical history, physical examination and blood tests.
JIA is considered where the condition begins before the age of 16, the symptoms last for more than 6 weeks and other conditions that may be responsible for arthritis have been discounted.
The treatment must be put in place early and each child must be considered individually, which means that the therapy will have different levels of intensity depending on the type, time and seriousness of the condition.
Its aim is to care for the child’s all-round physical and psychological development, to try and improve all aspects of their quality of life.
To ensure that there are no after-effects, or that these are minimised, there must be ongoing effort and close collaboration between the child and their parents or family and the various specialists. It is essential that the family understands this disease. The child will begin to learn about it according to their age.
When it comes to diagnosis, certain analytical tests are valuable, along with examinations of the joints and eye tests for a better definition of the type of JIA and identification of the patients at risk of developing specific complications, like chronic iridocyclitis.
The rheumatoid factor (RF) test detects this autoantibody which, if positive and found persistently in high concentrations, indicates a subtype of JIA.
Antinuclear antibodies (ANA) usually test positive in tests on patients with early onset oligoarticular JIA. The population of patients with JIA has a greater risk of developing chronic iridocyclitis and, therefore, eye tests using a slit lamp should be scheduled (every three months).
HLA-B27 is a cellular marker which tests positive in up to 80% of patients with arthritis associated with enthesitis. In contrast, it is only positive in 5%-8% of healthy people.
Other examinations are valuable, such as the erythrocyte sedimentation rate (ESR), or C-reactive protein (CRP), as these measure the degree of general inflammation. Nevertheless, diagnostic and treatment decisions tend to be based more on the clinical manifestations that appear rather than the analytical tests.
Depending on the treatment, patients may need periodic tests (such as haemograms, liver function tests, or urine tests) to check for treatment side effects and any pharmacological toxicity that may not show any symptoms. Joint inflammation is mainly assessed by clinical examination and, sometimes, using imaging studies, such as ultrasound. Periodic X-rays or magnetic resonance (MRI) scans can be helpful in assessing bone health and growth and in personalising the treatment.
Associació Espanyola de Febre Mediterrània Familiar i Síndromes Autoinflamatoris
FEDER
Lliga Reumatològica Catalana
Hereditary angioedema is a rare genetic disease that affects approximately one in 50,000 people. It is usually an inherited disorder and is characterised by the accumulation of fluids outside the blood vessels, causing swelling of the face, hands, feet, extremities, genitals, gastrointestinal tract or the upper respiratory tract.
Because it is a low-prevalence disease with symptoms similar to those of other diseases and is therefore difficult to diagnose, it is important for there to be reference centres so that suspected and diagnosed cases can be centralised.
The inflammation that hereditary angioedema causes does not present associated itching and may last for 1 to 5 days. These symptoms are developed as a result of the malfunction of certain proteins that help maintain the normal flow of fluids through the blood vessels (arteries, veins and capillaries).
The seriousness of the disease shows a significant degree of variance. Angioedema episodes may be extremely incapacitating and have a serious effect on the patent’s quality of life. When it occurs in the region of the mouth or neck, the sufferer may die of asphyxia if they are not given preventive treatment.
In most cases symptoms start to manifest in childhood and/or puberty and continue throughout adult life.
There are different types of hereditary angioedema and they are classified according to whether or not they present a deficiency of the C1 component of the complement (C1-INH).
Swelling of the subcutaneous tissue in any part of the body, although it is most commonly found in:
Depending on the affected area, the symptoms may range from local discomfort to invalidity of the affected extremity, discomfort or pain when swallowing, voice changes, loss of voice, or dyspnoea (shortness of breath).
At one time of their life up to 50% of patients may present an episode that affects the throat, which if not immediately treated could lead to asphyxia.
Hereditary angioedema affects people who exhibit a mutation in certain genes, such as SERPING1, F12, PLG, KNG1 and ANGPT1. As it is a dominant autosomal disease, an affected patient has a 50% chance of passing it on to their children. Given that it is a genetic disorder, it is common to find that more than one member of the family is affected.
Depending on the type of mutation, it may affect men and women equally (types I and II) or women more frequently (HAE-nC1-INH). Cases of hereditary angioedema without C1-INH deficiency are usually associated with hyperoestrogenic states, such as pregnancy or the consumption of contraceptives that contain oestrogens.
The Allergology Clinic first assesses patients who present with recurring angioedema episodes and cases in which there are family members who also suffer them. Subsequently, a blood analysis is requested to determine the levels of the components of the complement, including the inhibitor of component C1 (C1-INH) and, finally, the diagnosis is completed with a genetic study.
Treatment depends on the number of attacks, the severity of the symptoms and the degree to which quality of life is affected. Treatment is always on a case-by-case basis and may be acute, which means the subcutaneous of intravenous administration of medication at the time of the angioedema attack, or preventive, to stop attacks occurring so frequently. The latter treatment is usually recommended for the patients who suffer the most episodes.
Angioedema treatments can be self-administered by the patients.
In the case of surgery, endoscopies, tooth extractions or certain dental procedures, treatment must be given in advance to prevent an attack.
Blood analysis normally forms part of the diagnostic procedure. Depending on the treatment, during monitoring it may be necessary to perform an abdominal ultrasound and draw blood for analysis.
Factors known to possibly trigger attacks should be avoided as far as possible:
A urinary tract infection is the presence of bacteria in the urinary tract, which is normally sterile. It can affect the lower urinary tract (bladder or urethra) or the kidneys, known as pyelonephritis. Common symptoms include pain during urination, frequent urination, or fever. Treatment usually involves antibiotics.
Infections of the lower urinary tract are characterised by localised pain, which increases when urinating, and sometimes by cloudy or dark urine, usually without high temperatures.
Kidney infections (pyelonephritis) are characterised by high temperatures, acute local pain in the lower back, and pain or irritation when urinating.
Urinary tract infection is characterised by the presence of local pain (lower abdomen or lumbar region), which increases when urinating. The urine is often cloudy, or dark if it contains blood. There may be high fever, especially in the case of pyelonephritis (an infection of the upper urinary tract).
It can affect people at any age, from early childhood to old age. It is more frequent among women and there are factors that make people vulnerable to it (pregnancy for women and enlarged prostate for men) as well as urological anomalies (pre-existing malformation or presence of kidney stones).
Urinary infections are diagnosed by examining urine under the microscope (sediment) to see whether it contains white blood cells and/or bacteria, and by cultivating the bacteria in a microbiological culture to identify the strain and determine the most appropriate antibiotic for treatment (antibiotic susceptibility testing).
Urinary tract infections are usually treated with antibiotics. Treatment is oral in the case of lower-tract infection.
For upper-tract infections (pyelonephritis) it is usually intravenous, although in some cases outpatient oral treatment may be administered.
The standard tests are urine sediment and culture (urine culture with antibiotic susceptibility testing). An ultrasound scan may be indicated for examining the kidney and urinary tract and identifying obstructions or kidney stones that may have brought about the infection.
Ultrasounds are also used to assess the state of the kidneys. A general analysis may also be indicated to see how the urinary tract infection is affecting the rest of the body, and specifically the renal function.
Urinary tract infection can be prevented by frequent urination (every 2 to 3 hours) and, above all, by avoiding the habit of holding in urine, and by going to the toilet whenever the bladder feels full, without waiting too long.
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