Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.

Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.

A novel cognitive neurosurgery approach for supramaximal resection of non-dominant precuneal gliomas: a case report.

Despite mounting evidence pointing to the contrary, classical neurosurgery presumes many cerebral regions are non-eloquent, and therefore, their excision is possible and safe. This is the case of the precuneus and posterior cingulate, two interacting hubs engaged during various cognitive functions, including reflective self-awareness; visuospatial and sensorimotor processing; and processing social cues. This inseparable duo ensures the cortico-subcortical connectivity that underlies these processes.

Prediction Equations for Maximal Aerobic Capacity on Cycle Ergometer for the Spanish Adult Population.

Background: Frequently used reference values for clinical exercise testing have been derived from non-random samples and some with poorly defined maximal criteria. Our objective was to obtain population based reference values for peak oxygen uptake (V?O) and work rate (WR) for cardiopulmonary exercise testing in a representative sample of Caucasian Spanish men and women.

Methods: 182 men and women, 20-85 years old, were included and exercised on cycle-ergometer to exhaustion.

Prediction Equations for Maximal Aerobic Capacity on Cycle Ergometer for the Spanish Adult Population.

Background: Frequently used reference values for clinical exercise testing have been derived from non-random samples and some with poorly defined maximal criteria. Our objective was to obtain population based reference values for peak oxygen uptake (V˙O) and work rate (WR) for cardiopulmonary exercise testing in a representative sample of Caucasian Spanish men and women.

Methods: 182 men and women, 20-85 years old, were included and exercised on cycle-ergometer to exhaustion.

NMR-based newborn urine screening for optimized detection of inherited errors of metabolism.

Inborn errors of metabolism (IEMs) are rare diseases produced by the accumulation of abnormal amounts of metabolites, toxic to the newborn. When not detected on time, they can lead to irreversible physiological and psychological sequels or even demise. Metabolomics has emerged as an efficient and powerful tool for IEM detection in newborns, children, and adults with late onset.

Intensification of Basal Insulin Therapy with Lixisenatide in Patients with Type 2 Diabetes in a Real-World Setting: The BASAL-LIXI Study.

Background: Basal insulin reduces fasting blood glucose levels, but postprandial blood glucose levels may remain higher. Traditional strategies with rapid insulin intensification can cause hypoglycemic episodes and weight gain. Glucagon-like peptide-1 receptor agonists, such as the short-acting lixisenatide, are able to control postprandial excursions, without weight gain, and with a low risk of hypoglycemic events.

Is Technology Present in Frailty? Technology a Back-up Tool for Dealing with Frailty in the Elderly: A Systematic Review.

This study analyzes the technologies used in dealing with frailty within the following areas: prevention, care, diagnosis and treatment. The aim of this paper is, on the one hand, to analyze the extent to which technology is present in terms of its relationship with frailty and what technological resources are used to treat it. Its other purpose is to define new challenges and contributions made by physiotherapy using technology.

Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant.

The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration. Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). We describe the case of an 8-year old boy with MPS-I, homozygous for W402X, treated at 10 months of age with HSCT and after failure of the transplant, with ERT during 2 years showing good results, including a positive neuropsychological development.