Contemporary use of cefazolin for MSSA infective endocarditis: analysis of a national prospective cohort.

Objectives: This study aimed to assess the real use of cefazolin for methicillin-susceptible Staphylococcus aureus (MSSA) infective endocarditis (IE) in the Spanish National Endocarditis Database (GAMES) and to compare it with antistaphylococcal penicillin (ASP).

Methods: Prospective cohort study with retrospective analysis of a cohort of MSSA IE treated with cloxacillin and/or cefazolin. Outcomes assessed were relapse; intra-hospital, overall, and endocarditis-related mortality; and adverse events.

Multiorgan retrieval and preservation of the thoracic and abdominal organs in Maastricht III donors.

This editorial describes the indications and technical aspects of the simultaneous retrieval of thoracic and abdominal organs in Maastricht III donors as well as the preservation of such organs until their implantation.

Genetic architecture of neurodegenerative dementias.

Molecular genetics has been an invaluable tool to help understand the molecular basis of neurodegenerative dementias. In this review, we provide an overview of the genetic architecture underlying some of the most prevalent causes of dementia, including Alzheimer's dementia, frontotemporal lobar degeneration, Lewy body dementia, and prion diseases. We also discuss the complexity of the human genome and how the novel technologies have revolutionized and accelerated the way we screen the variety of our DNA.

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.

Background: Spinocerebellar ataxias (SCAs) are dominantly inherited, progressive ataxia disorders. Disease progression could be preceded by weight loss.

Objectives: We aimed to study the course of weight loss in patients who had the most common SCAs (SCA1, SCA2 SCA3, and SCA6).

MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium.

The MAPT H1 haplotype has been linked to several disorders, but its relationship with Alzheimer's disease (AD) remains controversial. A rare variant in MAPT (p.A152T) has been linked with frontotemporal dementia (FTD) and AD.

Bone mass and vitamin D levels in women with a diagnosis of fibromyalgia.

Unlabelled: No differences in either bone mineral density or serum 25OHD levels have been found between 205 women with fibromyalgia (both pre- and postmenopausal) and their controls. However, a lack of the expected 25OHD summer rise was observed in patients.

Introduction: Contradictory data have been published regarding a possible association between fibromyalgia and osteoporosis or hypovitaminosis D.

"Single nucleotide polymorphisms of the OPG/RANKL system genes in primary hyperparathyroidism and their relationship with bone mineral density".

Background: Primary hyperparathyroidism (PHPT) affects mainly cortical bone. It is thought that parathyroid hormone (PTH) indirectly regulates the activity of osteoclasts by means of the osteoprotegerin/ligand of the receptor activator of nuclear factor-κβ (OPG/RANKL) system. Several studies have confirmed that OPG (osteoprotegerin) and RANKL (ligand of the receptor activator of nuclear factor-κβ) loci are determinants of bone mineral density (BMD) in the general population.

Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.

The aim of our study was to discover genomic variations related to variant Creutzfeldt-Jakob disease (vCJD) susceptibility. A genome-wide association analysis with most vCJD samples available in the world was performed. A series of 93 vCJD UK patients and 1504 UK controls were included in the discovery stage.

No association of CDK5 genetic variants with Alzheimer's disease risk.

Background: As cyclin-dependent kinase 5 (CDK5) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examined the contribution of this gene to the susceptibility for AD.

Methods: We examined genetic variations of CDK5 by genotyping haplotype tagging SNPs (htSNPs) (rs9278, rs2069459, rs891507, rs2069454, rs1549759 and rs2069442) in a group of 408 Spanish AD cases and 444 controls.

Results: There were no differences in the genotypic, allelic or haplotypic distributions between cases and controls in the overall analysis or after stratification by APOE epsilon4 allele.

Inflammation-related genes and the risk of Parkinson's disease: a multilocus approach.

For the first time, the multilocus approach by the set-association method has been applied for the analysis of a cluster of five genes [tumor necrosis factor alpha (TNF-alpha), interleukin 6 (IL-6), IL-8, IL-1alpha and IL-10] involved in the brain neuroinflammatory pathway in Parkinson's disease (PD), in a well-defined group of 197 PD patients and 173 control subjects from Spain. Set-association analysis did not reveal an independent or an interactive effect of these inflammatory genes on the PD risk.

Interaction between CD14 and LXRbeta genes modulates Alzheimer's disease risk.

A chronic inflammatory process with activation of microglial cells contribute to the neurodegeneration associated with Alzheimer's disease (AD). CD14 and LXRbeta are receptors involved in the regulation of inflammatory responses of microglia in response to bacterial infection or lipopolysaccharide stimulation. In a case-control study in 266 AD patients and 273 healthy controls, we examined whether the combined gene effects between CD14 (-260) polymorphism and LXRbeta (intron 5) polymorphism might be responsible for susceptibility to AD.

Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease.

Poly (ADP-ribose) polymerase-1 (PARP-1) is involved in crucial pathogenic events in Parkinson's disease (PD). We studied the effect of promoter variations of PARP-1 gene on the risk for PD in a case-control association study comprising 146 PD patients and 161 controls from Northern Spain. Three polymorphisms from the promoter region of PARP-1 gene were analyzed: -410C/T, -1672G/A, and a (CA)n microsatellite.

Case-control study of vascular endothelial growth factor (VEGF) genetic variability in Alzheimer's disease.

Vascular endothelial growth factor (VEGF) is a major regulator of angiogenesis and blood vessel function. Recent evidence indicates that VEGF facilitates memory and learning through stimulating angiogenesis and neurogenesis in the rat hippocampal dendate gyrus. Abnormal regulation of VEGF expression has been reported in the pathogenesis of both atherosclerosis and motoneuron degeneration in amyotrophic lateral sclerosis, with low VEGF-producing polymorphisms (-2578 allele A and -634 allele G) conferring increased susceptibility for the development of the disorders.

Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease.

We describe an exceptional spinocerebellar ataxia type 2 (SCA2) phenotype combining cerebellar ataxia, levodopa-responsive parkinsonism, and motor neuron symptoms. We conclude that motor neuron symptoms and signs may be a striking manifestation in SCA2, masking pre-existing cerebellar and extrapyramidal semeiology.

A clinical longitudinal study of multiple sclerosis in Cantabria, Spain.

Introduction: There are many studies that analyze the clinical course of multiple sclerosis (MS), but only a few of them observed patients from their first episode. We report a MS series of patients longitudinally evaluated from the onset of the disease and compare outcome between immunosuppressive treatment and non-treatment groups.

Patients And Methods: Patients were included when their follow-up was at least three years and serial examination was available.

Patterns of positive and negative symptoms in first episode schizophrenia.

Background: The aim is to examine, in first episodes of schizophrenia, the appropriateness of the simple two-dimensional model of schizophrenia ('negative' and 'positive' dimensions) and more complex variants.

Method: All patients with a first episode of schizophrenia who, over a two-year period, made contact with any of the public mental health services of the autonomous region of Cantabria in northern Spain were investigated. The psychiatric evaluation included, among other instruments, the Present State Examination (PSE-9), and the scales for the assessment of the 'positive' and 'negative' symptoms of schizophrenia (SAPS and SANS respectively).