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Neuromuscular and rare diseases

Neuromuscular disease is a chronic illness that results in serious disability, loss of independence, and with significant psychosocial consequences. Respiratory alterations are the main cause of morbidity and mortality in patients with neuromuscular diseases. They are significantly affected by the evolution of the disease and are the reason for multiple hospital admissions where the patient’s life is seriously endangered.

Malalties neuromusculars i malalties rares a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 01.02.2022, 13:01
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Complex ocular surface reconstruction

Patients have very serious damage to the ocular surface (the cornea, conjunctiva and eyelids) generally caused by chemical burns or an inflammatory disease of the ocular surface such as cicatricial pemphigoid or Lyell’s syndrome.

Reconstrucció complexa de la superfície ocular a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 12:23
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Lupus

Lupus is a chronic immunological disease characterised by the production of antibodies. It mainly affects women of child bearing age, evolves into flare-ups and can affect any organ.

It is characterised by the production of immune complexes found on any organ and that cause inflammation and, in some cases, even organ damage. The cause is unknown but is understood to be down to multiple factors. Genetic, environmental and hormonal factors play a role.

These cause a change to apopstosis (cell death) that means new antigens appear and the innate and the adaptive systems are activated, which are responsible for producing antibodies.

Lupus a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 30.11.2022, 13:12
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Valve defects: Ebstein’s anomaly

It is a congenital heart defect characterised by the tricuspid valve sitting lower than normal over the ventricular myocardium, caused by the corresponding atrioventricular ring. In this case, the right atrium greatly increases its volume and the right ventricle greatly reduces in size and lung flow is not sufficient.

Ebstein’s anomaly encompasses a wide range of defects characterised by different grades of displacement and adherence of the septal valve of the tricuspid valve to the right ventricle chamber. It is a very variable disease that may be severe or mild. 

Lesions valvulars: anomalia d'Ebstein a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 11:34
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Heart valve disorders: pulmonary stenosis

Pulmonary stenosis is a disorder of the heart valve that affects the pulmonary valve, the valve which separates the right ventricle from the pulmonary artery, which is the artery that transports blood to the lungs. Pulmonary stenosis occurs when the valve is unable to open sufficiently and as a result there is less blood flow to the lungs. 

Lesions valvulars: estenosi pulmonar a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 11:34
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Valvular heart disease: congenital anomalies of the mitral valve

Congenital mitral valve anomalies include a wide range of irregularities in the valves and subvalvular systems. This can cause problems from obstruction to mitral valve insufficiency. Two specific problems can occur: stenosis, which affects children; and congenital mitral insufficiency.

Lesions valvulars: anomalies congènites de la vàlvula mitral a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 11:34
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Orbital tumours

A tumour is an abnormal growth of tissue. In the case of orbital tumours, this growth is located in the tissues around the eye, which may be muscles, bones, fat, the lacrimal gland, nerves and blood vessels. They are rare tumours of several different types that may appear at any age. Orbital tumours may be benign or malignant. Benign tumours may cause pain due to compressing or displacing the different structures in the eye socket. Malignant tumours, on the other hand, as well as spreading to neighbouring tissue, may produce metastasis in other unconnected organs or lymphatic nodules.

Tumors d’òrbita a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 13:01
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Extraocular tumour in childhood (rhabdomyosarcoma)

It is a cancer that develops  in muscle and soft tissue. It can therefore be found in any part of the body, although most commonly in the head and neck, including the eye sockets. Despite being a rare cancer, as are all tumours in children, it is the most common cancer of the soft tissue found in childhood. This disease is more common in boys than in girls. 

Tumor extraocular en la infància (Rabdomiosarcoma) a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 13:00
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Treatment for resistant osteoarticular infections

The concept of resistant osteoarticular infections encompasses all procedures on patients with infections that have not responded to previous medical and surgical treatment. These procedures may be changing prostheses or treatment for chronic osteomyelitis or septic pseudoarthrosis among others. The Musculoskeletal System Septic Pathology Unit also treats many of these patients from the start due to the complexity of their condition.

Tractament d’infeccions osteoarticulars resistents a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 11:10
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Tetralogy of Fallot

A congenital cyanotic heart defect is a  congenital heart disorder in which deoxygenated blood  bypasses the lungs and enters the circulatory system, or where there is a mixture of oxygenated and deoxygenated blood entering the system. It is caused by structural defects in the heart such as bidirectional shunting, or the incorrect position of the pulmonary artery or the aorta, or any condition that increases pulmonary vascular resistance. The result is the development of collateral circulation.

Tetralogia de Fallot a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 12:55
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