Publications by authors named "Francisco Javier Fernandez Martinez"
N-type voltage-gated calcium channel controls the release of neurotransmitters from neurons. The association of other voltage-gated calcium channels with epilepsy is well-known. The association of N-type voltage-gated calcium channels and pain has also been established.
View Article and Find Full Text PDFEpilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals. Hundreds of genes involved in epilepsy are known, and their number is increasing progressively, especially with next-generation sequencing techniques.
View Article and Find Full Text PDFThe integration of genetic information in current clinical routine has raised a need for tools to exploit family genetic knowledge. On the clinical side, an application for managing and visualizing pedigree diagrams could provide genetics specialists with an integrated environment with potential positive impact on their current practice. This article presents a web tool (genoDraw) that provides clinical practitioners with the ability to create, maintain and visualize patients' and their families' information in the form of pedigree diagrams.
View Article and Find Full Text PDFArray-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review.
Clin Dysmorphol
July 2012
Objectives: Redirect demand pathology severity level IV-V of the hospital emergency room (ED) to the Primary Health Care (AP) reference, increase in technical consultation and assess the effectiveness of the proposed Accessibility Plan (PA). Improving the quality of care offered, lowering the cost to achieve it.
Design: Quality research study conducted in January-2010 data collected throughout 2009, and compare them versus those obtained in 2008.
Article Synopsis
- The study aimed to assess the annual costs of glucose-lowering treatment (GLT) in diabetic patients, focusing on various demographic and health variables.
- A sample of 294 diabetic patients was analyzed, revealing an average GLT cost of 82,979 € per year, with significant variables influencing costs including the type of diabetes, prescribing source, and number of medications.
- The findings highlighted the need for better coordination of care and the establishment of clinical guidelines to enhance treatment efficiency and reduce variability in costs.
Background: The incidence of chromosomal anomalies in patients with short stature (SS) was studied in order to determine the value of routine karyotyping in this population.
Methods: This study was a retrospective evaluation of 972 patients (719 females and 253 males) with SS. Chromosomal analysis was performed on cultured peripheral lymphocytes.