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Inherited bone marrow failure syndromes

These syndromes are a group of diseases characterised by insufficient blood cell production (anaemia, neutropenia and thrombocytopenia), constitutional malformations and the risk of cancer.

 

They are usually diagnosed in childhood but there some cases diagnosed in adults. Specifically, these syndromes are:  Fanconi anaemia, dyskeratosis congenita or selectively severe congenital neutropenia, Diamond-Blackfan anaemia, Diamond-Shwachman syndrome, and amegakaryocytic thrombocytopenia.  

Síndromes de la fallada medul·lar congènita a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 12:53
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The Zika virus

The disease caused by the Zika virus is contracted by a bite from an infected mosquito, as in the case of dengue fever, chikungunya and yellow fever. It can also be spread through sexual intercourse, pregnant women may transmit it to their children, or through blood transfusions. In Europe there are no cases of infection by mosquito; all cases have been imported. 

Infecció per virus del Zika a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 01.02.2022, 15:09
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Pulmonary atresia with ventricular septal defect

Pulmonary atresia with ventricular septal defect is a rare heart condition characterised by a lack of connection between the right ventricle and the pulmonary arteries.

L'atrèsia pulmonar amb comunicació intraventricular a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 09:46
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The Ebola virus

The Ebola virus disease (EVD) is a serious infectious disease originating in wild animals. It is caused by a virus of the “Ebolavirus” genus (filoviruses) that tends to occur as outbreaks with a mortality rate of 50%.

Ebola a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 01.02.2022, 15:08
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Pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a disorder of the arteries that connect the lungs to the heart. Symptoms are shortness of breath or laboured breathing (dyspnoea).

Hipertensió arterial pulmonar a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 11:05
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Treatment of testicular cancer

The treatment for suspected testicular tumours is the surgical removal of the affected testicle. Surgery is an important part of the diagnosis and treatment of testicular cancer.

Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 20:58
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Treatment of prostate cancer

Patients with localised cancer may be treated with curative intent, primarily surgery or radiotherapy in its various forms. However, these radical treatments are not harmless and can cause side effects that affect the quality of life of the treated patient, such as erectile dysfunction, urine leakage and/or digestive disorders.

Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 20:59
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Treating anaemia

The goal of treatment is to increase the amount of oxygen that the blood can carry. This is done by increasing the number of red blood cells or the concentration of haemoglobin, a protein in red blood cells that is rich in iron and carries oxygen to the body's cells. In addition, the underlying disease or the cause of the anaemia, where there is one, needs to be treated.

Tractament de l’anèmia
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 17.05.2023, 11:27
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Desensitisation

Desensitisation is one of the treatments available for inducing temporary or permanent tolerance by repeatedly administering to patients repeated doses of the allergen causing them problems. It is a commonly used procedure for treating allergies to some medications and foods.

Al·lèrgia
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 21:14
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Immunotherapy with Allergens (Allergy Shots)

Immunotherapy is a long-term, preventive treatment that aims to reduce the symptoms of patients diagnosed with hay fever, allergic asthma, conjunctivitis, or allergies to insect stings.

Al·lèrgia
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 21:13
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