Publications by authors named "Norberto Rodriguez Espinosa"

Alzheimer's disease (AD), as the main cause of dementia, affects millions of people around the world, whose diagnosis is based mainly on clinical criteria. Unfortunately, the diagnosis is obtained very late, when the neurodegenerative damage is significant for most patients. Therefore, the exhaustive study of biomarkers is indispensable for diagnostic, prognostic, and even follow-up support.

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Objective: We have analyzed the prevalence of antipsychotics in patients with dementia in Spain, their age distribution and the influence of treatment with IACEs and memantine on their prescription.

Method: Descriptive, retrospective and cross-sectional study of the 2017 BIFAP database in over 65 years of age with dementia. Prescriptions of antipsychotics, IACEs and memantine were collected.

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Few studies have analized the effect of vascular risk factors and lifestyle habits affecting the middle age of postmenopausal women on later cognitive performance in old age. We have carried out an observational study to identify those factors and whether they differ from those acting in men. Postmenopausal women and males, both aged 40-60  years old at recruitment, from a community dwelling cohort were included.

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Objective: In the Canary Islands the prescriptions billed to the National Health System are registered in a database (FarmaCanarias). The main objective was to estimate the consumption of Acetylcholinesterase inhibitors (IACE) and Memantine in Canary Islands and to compare with a Spanish sample from Pharmacoepidemiological Research Base in Primary Care (PRBPC) which is national in scope. As secondary we determined the percentage in treatment in the Spanish sample.

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Clinical procedure for mild cognitive impairment (MCI) is mainly based on clinical records and short cognitive tests. However, low suspicion and difficulties in understanding test cut-offs make diagnostic accuracy being low, particularly in primary care. Artificial neural networks (ANNs) are suitable to design computed aided diagnostic systems because of their features of generating relationships between variables and their learning capability.

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Article Synopsis
  • 4H leukodystrophy is an autosomal recessive disorder linked to hypomyelination and several endocrine issues, caused by mutations in genes like POLR3A and POLR3B.
  • The study involved 150 patients and aimed to systematically assess their endocrine and growth abnormalities while exploring potential genotype/phenotype links.
  • Findings revealed that delayed puberty and short stature are common in these patients, highlighting a need for more thorough investigation of endocrine problems in this group.
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Objective: To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes.

Methods: We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely severe phenotype compared with that typically reported. Clinical, radiologic, and molecular features were evaluated for all patients, and functional and neuropathologic studies were performed on 1 patient.

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