LRRK2 mutations are a common cause of Parkinson's disease in Spain.

Pathogenic mutations in the leucine-rich repeat kinase 2 gene (LRRK2; PARK8) have been implicated in autosomal dominant, late-onset parkinsonism. The LRRK2 6055G > A (G2019S) mutation is the most common reported to date, and has been observed in a number of different European populations. So far, only the LRRK2 4321C > G (R1441G) mutation has been identified in the Spanish population.

Effect of androgen deprivation therapy in the thyroid function test of patients with prostate cancer.

We have assessed the effect of androgen deprivation therapy (ADT) in the thyroid function test in prostate cancer patients. Serum levels of tri-iodothyronine (T3), thyroxine (T4), free thyroxine (FT4) and thyroid-stimulating hormone (TSH) were determined in a cross-sectional study that included 279 patients diagnosed with prostate cancer. A subset of 96 patients free of prostate-specific antigen relapse after radical prostatectomy became a control group and 183 patients under continuous ADT formed the study group.

Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population.

Mutations in mitochondrial DNA (mtDNA) have been implicated in the development of Parkinson's disease (PD). Mitochondrial function is necessary to supply the energy required for cell metabolism, and mutations in mitochondrial genes should have a deleterious effect in neuronal function. An association between several common mtDNA-polymorphisms and the risk of PD has been described.

LRRK2 R1441G in Spanish patients with Parkinson's disease.

Pathogenic mutations in leucine-rich repeat kinase 2 (LRRK2; PARK8) have been implicated in autosomal dominant, late-onset Parkinson's disease (PD). The LRRK2 4321C>G (R1441G) mutation was originally identified in Spanish families originating from the Basque region. Within this ethnicity, Lrrk2 R1441G substitutions have been suggested as a frequent cause of disease.

Insulin-sensitizing agents: use in pregnancy and as therapy in polycystic ovary syndrome.

Treatment with insulin-sensitizing agents is a relatively recent therapeutic strategy in women with polycystic ovary syndrome (PCOS) and insulin resistance. The key areas addressed in this review include PCOS and the development of type 2 diabetes mellitus and gestational diabetes, as well as the use of insulin-sensitizing agents, particularly metformin, in the management of infertility in obese and non-obese PCOS women. Treatment with metformin in PCOS women undergoing IVF and the use of metformin during gestation will be discussed.

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.

Autosomal recessive mutations in the parkin gene are the predominant cause of familial, early-onset parkinsonism; missense mutations involving one or a few nucleotides, exonic deletions and duplications have been described. Here we report a family with two affected brothers. Direct sequencing of parkin did not detect mutations, but semi-quantitative analysis identified a novel exonic rearrangement of exons 2-4.

Airmed-cardio: a GSM and Internet services-based system for out-of-hospital follow-up of cardiac patients.

A platform built around three information entities (patient, health-care_agent, and central_station) was designed to enable patients with chronic heart disease (in stable condition; emergency situations were excluded deliberately) to complete specifically defined protocols for out-of-hospital follow-up and monitoring. The patients belonged to one of four specific risk groups: arterial hypertension, malignant arrhythmias, heart failure, and postinfarction rehabilitation. They were provided with portable recording equipment and a cellular phone that supported data transmission [electrocardiogram (ECG)] and wireless application protocol (WAP) (remaining parameters and ad hoc questionnaires).

Diagnosing Crohn's disease: an economic analysis comparing wireless capsule endoscopy with traditional diagnostic procedures.

The purpose of this study was to review economic considerations related to establishing a diagnosis of Crohn's disease, and to compare the costs of a diagnostic algorithm incorporating wireless capsule endoscopy (WCE) with the current algorithm for diagnosing Crohn's disease suspected in the small bowel. Published literature, clinical trial data on WCE in comparison to other diagnostic tools, and input from clinical experts were used as data sources for (1) identifying contributors to the costs of diagnosing Crohn's disease; (2) exploring where WCE should be placed within the diagnostic algorithm for Crohn's; and (3) constructing decision tree models with sensitivity analyses to explore costs (from a payor perspective) of diagnosing Crohn's disease using WCE compared to other diagnostic methods. Literature review confirms that Crohn's disease is a significant and growing public health concern from clinical, humanistic and economic perspectives, and results in a long-term burden for patients, their families, providers, insurers, and employers.

[Methodology for the implementation of e-Health services for chronic patient monitoring and control].

A methodology is presented for a smooth, orderly implementation of specific e-Health services for monitoring chronic patients outside of the hospital setting. Identified as a stage-gate model for the management of the overall implementation process, this methodology is presented formally structured into three steps: a) exploratory examination (pilot project stage); 2) in-depth evaluation (clinical trial stage); and 3) deployment (guided use stage). In the first stage, controlled by the R+D team, the predominant criiteria are the functionality and usability of the technologies involved.

Chemokines (RANTES and MCP-1) and chemokine-receptors (CCR2 and CCR5) gene polymorphisms in Alzheimer's and Parkinson's disease.

Parkinson's disease (PD) is a complex disorder characterized by the progressive degeneration of dopaminergic neurons in the midbrain. Late-onset Alzheimer's disease (LOAD) is the most common cause of dementia in the elderly, affecting about 5% of the population older than 65 years. Several works have demonstrated the involvement of inflammation in the pathogenesis of both, PD and LOAD.

Parkinson's Disease Sleep Scale: validation study of a Spanish version.

The Parkinson's Disease Sleep Scale (PDSS) is the first published bedside clinical tool to specifically measure sleep disturbances in Parkinson's disease (PD). The objective of the present study was to carry out a metric analysis of a Spanish version (PDSS-SV) using a cross-sectional study of 100 PD patients who participated in the study. Usual measures for PD and mental status were applied by neurologists.

Evidence for a membrane carbonic anhydrase IV anchored by its C-terminal peptide in normal human pancreatic ductal cells.

The high concentration of HCO(3)(-) ions (150 mM) in the human pancreatic ducts raises the question of the membrane proteins responsible for their secretion in addition to the Cl(-)/HCO(3)(-) exchanger. In this study, we investigated the expression of carbonic anhydrase IV (CA IV), a possible candidate. Experiments were carried out on specimens of normal human pancreas obtained from brain-dead donors ( n=9) as well as on isolated human ductal cells.

Inhibin and follicular development in heterotopical ovary transplants without vascular pedicle in syngeneic Lewis rats.

Objective: To evaluate the role of inhibin in elevated base levels of FSH and follicular hyperplasia in ovarian autotransplantation in rats.

Design: Experimental animal study.

Setting: Unit of Experimental Research at the Barcelona University School of Medicine.

Basal activity of GIRK5 isoforms.

G protein-coupled inwardly rectifying K(+) channels (GIRK or Kir3) form functional heterotetramers gated by Gbetagamma subunits. GIRK channels are critical for functions as diverse as heart rate modulation and neuronal post-synaptic inhibition. GIRK5 (Kir3.

Identification of HTF (HER2 transcription factor) as an AP-2 (activator protein-2) transcription factor and contribution of the HTF binding site to ERBB2 gene overexpression.

The ERBB2 gene is overexpressed in 30% of human breast cancers and this is correlated with poor prognosis. Overexpression of the ERBB2 gene is due to increased transcription and gene amplification. Our previous studies have identified a new cis element in the ERBB2 promoter which is involved in the gene's overexpression.

Targeting of carbonic anhydrase IV to plasma membranes is altered in cultured human pancreatic duct cells expressing a mutated (deltaF508) CFTR.

Human pancreatic duct cells secrete HCO3- ions mediated by a Cl-/HCO3- exchanger and a HCO3- channel that may be a carbonic anhydrase IV (CA IV) in a channel-like conformation. This secretion is regulated by CFTR (Cystic Fibrosis Transmembrane conductance Regulator). In CF cells homozygous for the deltaF508 mutation, the defect in targeting of CFTR to plasma membranes leads to a disruption in the secretion of Cl- and HCO3 ions along with a defective targeting of other proteins.

Single-nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease.

Mutations in the PARKIN gene have been identified in families with recessively inherited Parkinson disease (PD). Common DNA-polymorphisms at the PARKIN gene could contribute to the risk for PD in the general population. Here we searched for DNA-polymorphisms in the PARKIN promoter.

Teleradiology from primary care: comparison of user activity in two different scenarios.

We recorded the activity over one year of users of two identical teleradiology systems installed at different primary care centres. In one centre, which generated 3711 cases, the process was conducted according to the decisions made by the general practitioner (GP); in the second, which generated 3786 cases, the radiologist at the referral hospital controlled the process. In a one-year study, the number of studies created, transmitted and interpreted per day was similar in the two scenarios (14.

Development of a computer-assisted high-throughput screening platform for anti-angiogenic testing.

Angiogenesis is widely accepted to play a central role in tumor growth and spreading. Therefore, anti-angiogenic agents appear as promising tools in cancer therapy, and great efforts have been devoted to their identification in recent years. Despite fast progress in this area, a quantitative and objective system for rapid anti-angiogenic testing is not currently available.

The effects of tamoxifen and estrogen on brain metabolism in elderly women.

Background: Tamoxifen is used to treat breast cancer and may reduce the risk of breast cancer. However, there are conflicting reports as to whether tamoxifen use is associated with changes in brain metabolism and function or cognitive impairment. Consequently, we assessed the effects of tamoxifen and estrogen on the brain chemistry of elderly women.

Na(+)+K(+)-ATPase in gills of the blue crab Callinectes sapidus: cDNA sequencing and salinity-related expression of alpha-subunit mRNA and protein.

Many studies have shown that hyperosmoregulation in euryhaline crabs is accompanied by enhanced Na(+)+K(+)-ATPase activity in the posterior gills, but it remains unclear whether the response is due to regulation of pre-existing enzyme or to increased gene transcription and mRNA translation. To address this question, the complete open reading frame and 3' and 5' untranslated regions of the mRNA coding for the alpha-subunit of Na(+)+K(+)-ATPase from the blue crab Callinectes sapidus were amplified by reverse transcriptase/polymerase chain reaction (RT-PCR) and sequenced. The resulting 3828-nucleotide cDNA encodes a putative 1039-amino-acid protein with a predicted molecular mass of 115.

Long-term ovarian function evaluation after autografting by implantation with fresh and frozen-thawed human ovarian tissue.

The transplantation of ovarian tissue has recently been the focus of intense investigation with the aim of avoiding premature ovarian failure mainly in patients receiving chemotherapy or radiotherapy for malignant disease. Here, we present an evaluation of the long-term function of both fresh (patients 1, 2, and 3) and cryopreserved (patient 4) ovarian autografts in four premenopausal patients aged 46-49 yr who underwent heterotopic ovarian transplantation and were followed over a 1-yr period without receiving gonadotropins to stimulate follicular growth. In patients 1 and 2, approximately 1 cm(3) ovarian cortical autograft was placed sc in the inner aspect of the arm, whereas and in patients 3 and 4 minced ovarian tissue was placed into a muscle pocket in the abdominal wall.