Survey on the management of Pompe disease in routine clinical practice in Spain.

Background: Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare genetic disorder involving high-impact therapy. Through several discussion meetings and a survey, the present study aimed to learn about the management of Pompe disease in routine clinical practice in Spain, to improve clinical care in a real-life situation.

Results: The survey was sent to 42 healthcare professionals who manage patients with Pompe disease in their clinical practice.

Efficacy and Safety of Tinzaparin in Prophylactic, Intermediate and Therapeutic Doses in Non-Critically Ill Patients Hospitalized with COVID-19: The PROTHROMCOVID Randomized Controlled Trial.

Hospitalized patients with COVID-19 are at increased risk of thrombosis, acute respiratory distress syndrome and death. The optimal dosage of thromboprophylaxis is unknown. The aim was to evaluate the efficacy and safety of tinzaparin in prophylactic, intermediate, and therapeutic doses in non-critical patients admitted for COVID-19 pneumonia.

Preliminary results of a screening program for anal cancer and its precursors for HIV-infected men who have sex with men in Vigo-Spain.

Background: Men who have sex with men (MSM) infected with human immunodeficiency virus (HIV) have the highest risk of developing anal cancer (AC). The objective of this study was to describe our screening implementation program in this population, and report the prevalence of human papillomavirus (HPV) anal infection, and cytological and histological findings in a Spanish medium-size community (Vigo, Spain).

Method: Prospective cohort analysis of 240 HIV-infected MSM.

[Venous thrombosis associated with central venous catheter use in patients with cancer].

The use of central venous catheters for various applications (administration of chemotherapy, blood products and others) in patients with cancer is increasingly frequent. The association between thrombosis and catheter use has been fully established but aspects such as its causes, diagnosis, prophylaxis and treatment have not. We describe a case of thrombosis in a patient with cancer treated with chemotherapy who carried a central venous catheter.

[Comparison of patients from a Spanish Registry of Fabry disease in two periods].

Background And Objective: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, that leads to multiorgan dysfunction and premature death. Data from the first 24 Spanish patients enrolled on the Fabry Outcome Survey (FOS) were published in 2004, with a significant increase in the number of patients since then. This manuscript analyzes whether the clinical profile or diagnosis of these patients between the 2 periods has changed.

Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy.

Unlabelled: Fabry cardiomyopathy (FC) is characterized by left ventricular hypertrophy (LVH). The aim of this study is to determine whether early changes revealed by tissue Doppler imaging (TDI) are useful for detecting preclinical cardiac abnormalities in patients with this X-linked genetic disorder. If so, this tool could help in deciding whether to begin enzymatic therapy earlier than otherwise.

Antiphospholipid syndrome mimicking multiple sclerosis in two patients.

Antiphospholipid syndrome can sometimes mimic multiple sclerosis symptoms and, therefore, present difficulties at the time of diagnosis. We describe the cases of two young women with recurrent neurological deficiencies, the presence of antiphospholipid antibodies in serum, and typical demyelinating lesions on magnetic resonance imaging. Initiation of anticoagulant therapy did not result in any new neurological events in either patient.

[Fabry disease in Spain: first analysis of the response to enzyme replacement therapy].

Background And Objective: Fabry disease is a X-linked lysosomal disorder caused by a deficient activity of the enzyme alfa-galactosidase A. Lack of enzyme activity results in progressive accumulation of globotriaosylceramide (Gb3) leading to multiorgan dysfunction and early death. Enzyme replacement therapy (ERT) has recently become available and the database Fabry Outcome Survey (FOS) of Spain gives us the opportunity to asses the efficacy of this therapy.