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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:
The coronavirus SARS-CoV-2 is a virus known as acute respiratory syndrome coronavirus 2 that was first observed in Wuhan (Hubei, China) in December 2019. This new virus is the cause of an infectious disease, known as COVID- 19, which causes respiratory infections to people. In most cases, eight out of ten, the symptoms are mild.
It is important to contact 061 in case of fever, cough, shortness of breath and if you have traveled or have been in contact with a person from the highest risk areas. The World Health Organization (WHO) has declared the SARS-CoV-2 coronavirus as an international public health crisis.
Coronavirus is a family of viruses that circulates among animals. Some types of coronaviruses can also affect people, causing respiratory infections, such as the coronavirus SARS-CoV-2.
In 80% of cases, the symptoms are mild and can be confused with those of a flu:
These symptoms may appear gradually accompanied by nasal congestion or sore throat. Moderate cases may be accompanied by a feeling of shortness of breath and, in the most severe, the infection causes more severe complications, such as pneumonia.
According to current data, there are people who have become infected but have not developed any symptoms or are ill. Although in most cases the symptoms are mild, some people, with a more severe prognosis, have died.
The SARS-CoV-2 coronavirus can infect anyone, regardless of their age. Even so, two groups with greater risk have been detected:
The risk of infection is higher in those areas where there are cases of SARS-CoV-2 coronavirus diagnosed. Therefore, everyone needs to take protective measures, such as maintaining good hand hygiene or covering their mouths with their elbows or with a tissue when coughing.
Studies conducted so far suggest that the SARS-CoV-2 coronavirus is transmitted by air, from person to person, through droplets from the nose or mouth that are spread when an infected person coughs or exhales. Contagion occurs when these droplets are exhaled by a healthy person or when they fall on an object or surface that the person subsequently touches and then, without disinfecting the hands, touches the eyes, nose or mouth.
Between infection with the virus and the appearance of the first symptoms of the ailment, it is estimated that there may be an incubation period of between one and fourteen days. On average it is estimated that this is five days.
The diagnosis is made through a specific COVID-19 detection test.
Currently, there is no specific treatment for SARS-CoV-2 coronavirus, only supportive treatment. In milder cases, the treatment is similar to the flu: pain relievers to control fever and stay properly hydrated.
In the most severe cases, if the patient requires ventilatory support, due to pneumonia or respiratory failure, the patient is admitted to the ICU.
Atopic dermatitis, also known as atopic eczema, is the most frequent chronic inflammatory cutaneous disease in children. It manifests with outbreaks of reddened skin with peeling –eczema– which are more or less extensive, with intense itchiness, causing the need to scratch. This causes wounds on the eczema which often become superinfected. It is a disease which affects the quality of life of patients and those around them.
Atopic dermatitis is a chronic inflammatory cutaneous disease. It is known for manifesting in outbreaks, being reversible and for unpredictable progression during the patient’s life. The most frequent cutaneous disease in children. Patients have very itchy, dry skin, as well as a hyperactive immune response to environmental factors. Intense itchiness leads to uncontrolled scratching, which causes wounds on the eczema. These can be complicated by infection and can cause great anxiety in patients and their families.
Atopic dermatitis is a multifaceted disease caused by a combination of many factors, including:
Common symptoms of atopic dermatitis are:
Clinical presentation, characteristics of symptoms and initial signs depend on the patient’s age but, in all cases, axillary and inguinal folds are usually unaffected.
The most frequent cutaneous disease in children. Usually begins during childhood and most cases are resolved during adolescence. Although some paediatric patients are affected by the disease until adulthood. Atopic dermatitis can also sometimes begin in adults, young adults or even at an advanced age.
Atopic dermatitis is always diagnosed according to clinical criteria and generally does not require complementary tests. Currently, diagnosis and assessment of the severity of the disease are clinical with the doctor examining the patient.
A skin biopsy should be considered to exclude other conditions, including early stage T-cell cutaneous lymphoma, psoriasis or dermatitis herpetiformis.
Atopic dermatitis is not an allergic condition but children with the disease may suffer:
If rhinitis, allergic conjunctivitis or any food allergy is associated or suspected, the patent will be referred to the Allergology Department.
The main goal of treatment is to maintain the skin free from eczema outbreaks. Therefore, hygiene measures will be prescribed to keep the skin moisturised and less susceptible to inflammation. External factors that can trigger skin inflammation should also be avoided.
Topical corticosteroids, topical immunomodulators and oral antihistamines are used to control minor to moderate outbreaks of atopic dermatitis in order to reduce inflammation and itchiness. Topical or oral antibiotics may be necessary in case of eczema superinfection.
Controlling severe outbreaks may require systemic treatment, such as:
Prevention is essential to avoid the inflammatory response associated with eczema:
Cancer is characterised by excessive and uncontrolled cell growth that invades and damages tissues and organs. It is a multi-factor illness that is caused by a combination of genetic and environmental factors.
Most cancers are sporadic, but some 5 to 10% of cancer diagnoses involve a hereditary genetic origin. This means that specific genes, called cancer susceptibility genes, present germ cell abnormalities (found throughout the body) that increase the risk of developing cancer.
It's important to point out that cancer is NOT hereditary, but the predisposition to developing it is. Having genes that are associated with cancer susceptibility simply means you have a higher risk of having the disease, not that you will have cancer for sure. This genetic predisposition can be transmitted from parents to offspring, normally following an autosomal dominant inheritance pattern, meaning that there is a 50% chance of passing the gene to descendants.
In some cases, the genetic susceptibility is individual and caused by a combination of multiple genetic differences (a combination of low-risk polymorphisms or allele variants). Identifying a genetic abnormality known to increase the risk of developing cancer in a family allows its members to benefit from early cancer detection and prevention measures, as well as to seek specific, targeted treatments against that type of cancer.
There are different genes associated with an increased risk of falling ill with cancer. Among the most frequent and well known are the genes:
The genes APC and MUTYH, linked with familial adenomatous polyposis –the formation of a large number of adenomatous polyps (non-malignant tumours) in the colon– and colon cancer.
There are different clinical criteria that may arouse the suspicion that an individual has a hereditary genetic abnormality that predisposes them to certain kinds of cancer, such as:
When these criteria are detected, they are referred to the genetic assessment unit specialising in cancer, where the need to perform a genetic study to rule out the possibility of a hereditary predisposition to cancer will be determined. This multi-disciplinary unit is staffed by physicians who are specialists in hereditary cancer and genetic counsellors. Here, an individual risk assessment, genetic tests, and follow-up for the carriers of the gene are carried out.
There are different syndromes that involve a genetic predisposition to developing cancer. For example, there are different genes that can make someone have a genetic predisposition to breast cancer.The most common are:
The genetic predisposition to developing colon cancer can be divided into two types: polyposic and non-polyposic.
There are different types of polyposic colon cancer. Familial adenomatous polyposis (FAP) presents the highest risk for developing colon cancer. It is characterised by hundreds or thousands of polyps in the colon, and sometimes also throughout the entire digestive tract. These polyps are not malignant lesions, but they can degenerate and develop into cancer.Thus, individuals with FAP end up developing colon cancer if these polyps are not removed. Pathogenic alterations in the APC gene are responsible for this condition. In addition, carriers of APC gene mutations are also at risk for other tumours or conditions (hepatoblastoma, thyroid tumours, and desmoid tumours).
The main syndrome entailing a predisposition to non-polyposic colon cancer is Lynch syndrome. This syndrome entails a high risk of developing colon and endometrial cancer, along with a risk of developing ovarian, bile duct, urinary tract, and gastric cancer. It is caused by mutations in the genes that are in charge of DNA repair, specifically, those tasked with mismatch repair, namely MLH1, MSH2, MSH6, PMS2, and EPCAM.
We can also find a genetic predisposition to endocrine tumours. Pheochromocytomas and paragangliomas are rare tumours that are caused by a hereditary genetic abnormality in 40% of cases. These can be caused by abnormalities in the succinate-dehydrogenase-encoding genes (SDHx), RET gene (MEN2 syndrome), MEN1 gene, NF1 gene (neurofibromatosis type 1) or FH gene, among others.
A genetic diagnosis is usually done with a blood sample, but a saliva sample or skin biopsy can also be used. DNA (present in the nucleus of our cells) is extracted from this sample for analysis.
There are different techniques for carrying out genetic studies. Currently, at our centre, we perform gene panel studies. This entails analysing different genes linked with the genetic predisposition to cancer to rule out any abnormality in them; this is also called gene sequencing.
When a genetic abnormality is found in a family, a predictive study is carried out. This kind of study determines if an individual also presents the genetic abnormality detected in the family.
Depending on the genetic change found, different measures for early detection and prevention can be recommended. For example, individuals with a mutated BRCA1/2 gene should begin to undergo an annual breast check-up, with a breast MRI and a mammogram, from the time they are 25-30 years old. Individuals with Lynch syndrome should get annual colonoscopies from the age of 25 onward.
Depending on the type of genetic disorder, risk reduction surgeries can also be an option. For example, in individuals diagnosed with FAP, depending on the number of polyps they have, a prophylactic colectomy (removal of the colon) can be performed to reduce their risk of developing colon cancer.
Follow-up and prevention measures are determined on an individual basis in the corresponding specialist's medical consultation. Additionally, at the medical office in charge of hereditary cancer, a reproductive genetic assessment is offered, depending on the genetic abnormality.
Dystonia is a neurological disorder characterised by involuntary muscle contractions that cause repetitive movements and tortuous and painful stances every time the patient makes a learned movement, such as walking or speaking.
Dystonia that is detected in childhood can progress rapidly and interfere in the development of the child's language and mobility, causing a physical disability that will affect them throughout life.
Dystonia is a very heterogeneous disease, which can occur for a variety of reasons:
Due to its incidence, dystonia is considered a rare disease.
Dystonia in childhood can occur in isolation or associated with other neurological and development problems. It can cause difficulty in everyday tasks such as walking, speaking, feeding oneself and taking care of personal hygiene.
When presented in isolation it is called primary dystonia and often has a genetic origin. Children who suffer from it do not usually have other health problems and their neurological development is normal. At first it manifests itself in actions such as walking, running, or writing and, later, can spread to other parts of the body and cause widespread dystonia.
Myoclonic dystonia is one of the most frequent hereditary forms of dystonia in childhood. It is characterised by the presence of sustained (dystonic) and abrupt (myoclonic) muscle contractions and psychiatric disorders such as anxiety, depression and obsessive-compulsive features. The first symptoms appear in childhood and affect the lower limbs of children, who have difficulties walking, running and with sports. This disease also affects the social relationships of these children, who have problems speaking in public or eating and drinking with friends.
Dystonia can also be associated with other neurological problems, such as spasticity, ataxia, weakness, delay in neurological development and intellectual disability. In this case we call it secondary dystonia and it is necessary to rule out neurometabolic and neurodegenerative causes.
It affects children, adolescents, and adults of all ages.
First of all, patients are subjected to a series of clinical, metabolic, neurophysiological and neuroimaging studies to classify the type of dystonia, before carrying out genetic studies. In patients with myoclonic dystonia, first of all, a Sanger sequencing study is carried out to determine the gene that causes it, and in the other patients, a complete family exome sequencing(parents and patient) is carried out or the index case (patient) based on the DNA samples available.
Being a rare and very heterogeneous disease it is difficult to reach a correct diagnosis and treatment plan. It is important to distinguish hereditary dystonia from childhood cerebral palsy, caused by brain damage at birth, since its diagnosis has very important consequences for treating the disease later.
A diagnosis in time decreases the need to carry out more diagnostic tests, making it possible to form a prognosis and to advise families on avoiding future diseases. It also has a very positive psychosocial impact on the patient and family. And most importantly, an exact diagnosis of the cause that generates the dystonia makes it possible to guide the best possible treatment for each patient, in what we call personalised medicine.
Dystonia in childhood is progressive and debilitating, but can be prevented with early diagnosis and the use of specific therapies depending on the identified genetic defect.
Levodopa is the treatment of choice in dopa-sensitive dystonia, caused by a defect in the synthesis of dopamine. Botulinum toxin is used to control focal dystonia. In the case of widespread dystonia, different drugs are used to decrease tremors, muscle tone, and painful spasms. And in some cases of paroxysmal dystonia, which is characterised by brief and repetitive involuntary movements during the night, antiepileptic drugs are used.
An intrathecal baclofen pump administers liquid medication through a device that is placed under the skin, and is used to treat generalised secondary forms of dystonia. It reduces pain, decreases muscle tone and spasms. It is a treatment we call symptomatic and palliative, since it does not improve the motor function of the patient.
Deep brain stimulation or globus pallidus stimulation, two electrodes are placed in the globus pallidus using a stereotaxic technique, it is the treatment of choice in primary dystonia, especially if they are widespread and do not respond to conventional medication. In these cases children can recover the function of the area affected by dystonia and improve their quality of life. It can also be useful in patients with secondary forms of dystonia, although its effectiveness is less than in primary forms of dystonia.
Performing genetic testing is the best prevention to avoid having more children affected by this disease in the same family.
Campanya MoutePerLaDistonia
Associació de Lluita contra la Distonia Mioclònica a Espanya
Associació de Malalties Neurodegeneratives amb Acumulació Cerebral de Ferro
Associació GNAO Espanya
Cerebral palsy is a group of disorders affecting movement, posture and muscle tightness, caused by damage to the developing brain (in children up to approximately three years old). The severity of the symptoms varies widely: some patients can walk and lead independent lives, while others are more severely disabled. There may also be associated intellectual disabilities, problems with vision or hearing, problems when eating, seizures, etc.
These can be categorised according to the moment when the brain damage occurs: prenatal, perinatal and postnatal. Currently, the most frequent causes are: extremely premature birth, hypoxia of the brain during birth, and paediatric stroke.
In babies, we see slower psychomotor development, with difficulties in movements or activities. We usually see spasticity, which could be defined as increased tightness in a certain group of muscles. There are major musculoskeletal abnormalities, including spinal deformity, hip dislocation and ankle equinus.
Fundamentally clinical diagnosis, depending on the patient's history. But confirmation is needed by additional imaging tests such as cranial ultrasound and magnetic resonance imaging. However, these can be normal.
Unfortunately, there is no cure for cerebral palsy. However, we can deal with the pathology in different ways, both in prevention and in treatment:
No specific prevention is possible.
Apart from the physiotherapy and/or occupational therapy which can be offered or recommended to these patients, physical exercise can always be suggested, depending on the abilities of each person. We also recommend stretching certain muscle groups and trying to correct posture.
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.
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.
Kawasaki disease is a rare condition that causes blood vessel inflammation. It mainly affects breastfeeding babies and children under the age of five.
Diagnosis is based on clinical examination. Treatment consists of administering aspirin and immune globulin intravenous (IGIV).
To avoid possible heart sequelae, early diagnosis and correct treatment are essential.
Kawasaki disease is a form of systemic vasculitis that affects small and medium-sized blood vessels. The main complication of the condition is the formation of aneurysms in the coronary arteries. It is an acute and self-limiting inflammatory process.
1. Avoid using soap as this may cause the skin to dry further. Wear soft, flannel or cotton clothing.
2. Massage the skin with neutral hydrating cream.
3. Stop the child rubbing their eyes and protect them from light due to light sensitivity.
4. Ensure the child gets plenty of rest as it reduces irritability.
5. Apply passive exercises with soft toys and calm games.
Kawasaki disease is the main cause of acquired heart disease in children in developing countries. Greater incidence of the disease is observed in Asian countries, but distribution is currently universal and it is found in all races. It is more common in middle and upper socio-economic classes and in winter and spring.
Diagnosis of Kawasaki disease requires the presence of a fever for five days along with four criteria, or the presence of fever with three criteria if there is no other cause. The criteria are: bilateral conjunctival injection; alteration of labial mucosa and/or pharynx or “strawberry” tongue; alterations in hands and feet; skin rash; lymph nodes in the neck greater than 1.5 cm.
There is no specific laboratory test to diagnose this disorder.
Given that the symptoms of Kawasaki disease are non-specific and common to other conditions, a differential diagnosis must be conducted to correctly assess the treatment required.
The aim of treatment is to reduce inflammation in the myocardial coronary arteries, alleviate the symptoms and prevent clotting by inhibiting platelet aggregation. Immune globulin intravenous allows the disease to be cured in most cases and avoids heart sequelae. Treatment with acetylsalicylic acid (aspirin) is also used due to its anti-clotting properties.
Treatment with immune globulin is effective in reducing symptoms and avoiding coronary aneurysms. It is essential to start treatment between the fifth and tenth day of the disease.
Bronchiolitis is an infection that causes the small respiratory passages in the lungs (bronchioles) to become inflamed and mucus to build up in them. This blocks the flow of air, making it difficult to breathe.
It happens more often in babies because their airways are smaller and more easily blocked than in older children.
Bronchiolitis is not the same as bronchitis, which is an infection in the larger and more central airways that typically causes problems in adults.
Human respiratory syncytial virus (HRSV) is the most common cause of lower respiratory tract infection in babies and small children and it is one of the viruses that causes fever in children.
When it infects the lungs and airways, it is often responsible for bronchiolitis and lung disease or pneumonia in children less than one year old. In fact, the highest incidence of HRSV occurs in babies from two to eight months old.
It occurs more often between the months of October and March.
Human respiratory syncytial virus (HRSV) is also the most common cause of hospital admission in babies under one.
Bronchiolitis often begins with the same signs as catarrh. Infection can stay in the nose or extend to the ears and lower respiratory tracts.
Babies and small children affected by HRSV may show signs of:
Treatment for bronchiolitis due to HRSV basically consists of alleviating the symptoms. Antibiotics, which treat bacteria, are useless because, as we mentioned above, it is caused by a virus.
It is therefore advisable to:
Severe cases are treated in the hospital to give humidified oxygen and medication to help the child breathe more easily. In total, the condition usually lasts between one week and ten days, although a residual cough may persist for weeks. Bear in mind that the virus does not give the child immunity; they can become infected twice in the same season and reinfected in subsequent years.
Human respiratory syncytial virus (HRSV) is very contagious. It is spread if you come into direct contact with the nasal and throat secretions of someone who has the disease. This can happen when another child or adult coughs or sneezes nearby and the tiny droplets are inhaled by the baby. Also through hands or objects that have come into contact with infected people and then come into contact with the baby.
The virus can live for half an hour or more on your hands. It can also live for up to five hours on clothing, tissues, toys or furniture.
Infection can be prevented using several measures:
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