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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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Treating dystonia

Childhood dystonia is progressive and debilitating, but it can be prevented with an early diagnosis and the use of specific therapies that target the genetic defect identified. Currently, several different treatments are used.

Tractament distonia
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 21:17
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Peritoneal dialysis

Together with haemodialysis, peritoneal dialysis is an extra-renal filtration procedure. Kidney failure is treated with dialysis, a word that means “pass through”, and which uses the patient’s peritoneum as a filter. The peritoneum is the membrane that lines the abdominal cavity and it has a large surface area of around one square metre. This peritoneal membrane can filter out substances that need to be removed from the body (urea, potassium, phosphorus and many others) when filled with a glucose-rich dialysis fluid that encourages waste to be passed from the patient’s blood into it.

diàlisi peritoneal Vall d'hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 20:55
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Haemodialysis

Haemodialysis is an extra-renal filtration procedure that replaces kidney function using an external system. It acts as a filter for the patient's blood by connecting to the patient’s circulatory system via a catheter or by being directly inserted into the vein, usually in the arm. In other cases, an arteriovenous fistula may be created, connecting an artery to a vein beneath the skin on the arm. When an artery is connected to a vein, pressure in the vein increases, strengthening the vein walls. This stronger vein is able to withstand the needles used in haemodialysis and greater blood flow is achieved.

hemodialisi Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 21:37
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Kidney disease

There are four basic parts to treating renal insufficiency.

Controlling arterial pressure, if it is high; levels of urea; the balance of mineral salts (sodium, potassium, calcium, phosphorus, magnesium); acidity and anaemia. Analytical testing provides a lot of information which enables the origin and severity of the kidney disease to be established.

A kidney biopsy allows a microscopic study that is often essential. Genetic testing also provides very important information.

Trasplantament renal a Vall d'hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 21:41
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Treatment of diphtheria

In treating diphtheria, time is key. For this reason, it is important that it be administered within the first 48 hours after the symptoms appear, without waiting for confirmation of the diagnosis, which must be done in the laboratory.

Tractament de la diftèria a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 22:09
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Lung transplant

The lung transplant consists of replacing one or two sick lungs with healthy lungs. In general, transplants are carried out when there is a disease that involves severe and progressive chronic respiratory failure. Lung transplants started in 1981 in California. In Catalonia, this type of intervention is carried out exclusively at Vall d'Hebron University Hospital, for both children and adults.

Trasplantament pulmonar a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 21:48
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Heart transplant

A heart transplant is when a new heart is implanted. When the organs to be transplanted are the heart and the lungs, this is known as a “cardiopulmonary” transplant. This procedure is necessary when the patient suffers from a heart failure that limits their daily activity and all other treatment options have been exhausted.

Trasplantament cardíac a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.01.2022, 20:10
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