Search results for "informatics"
showing 10 items of 2542 documents
Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia
2020
Background: Primary ciliary dyskinesia (PCD) is a disease characterized by an alteration in the ciliary structure that causes an abnormal clearance of respiratory secretions. Its diagnosis is complex and is based on a combination of different techniques. The objective of this study was to design a gene panel including all known caustive genes, and to verify the utility for diagnostic in a cohort of Spanish patients. Methods: Multicenter cross-sectional study of patients with high suspicion of PCD, applying the criteria of the European Respiratory Society. Design a gene panel for mass sequencing with SeqCap EZ technology, including 44 PCD-related genes. Results: 79 patients were included, 53…
Could growth hormone play a role in Peutz Jeghers syndrome?
2013
Convincing experimental data suggest that the growth hormone (GH)/insulin-like growth factor-1(IGF-1) axis plays an important role in cancer development and behaviour. Epidemiological studies have supported an association with cancer, but not with tumour induction per se, although this is a distinction that is important mechanistically but not clinically [1]. We report the case of a 17-year-old man with delayed growth of pituitary origin, treated with growth hormone, in whom a diagnosis of Peutz-Jeghers syndrome (PJS) was subsequently made, and in whom, during the endoscopic follow-up, the number of polyps reduced dramatically, thus suggesting a role for GH in eliciting this disease.
Update on biomarkers for the detection of lung cancer
2017
Patients at risk for lung cancer may have subclinical disease for years before presentation. The diagnosis of this disease is primarily based on symptoms, and detection often occurs after curative intervention is no longer possible. At present, no lung cancer early-detection biomarker is clinically available. This study reviews the most recent advances in early detection and molecular diagnostic biomarkers for the detection of lung cancer. This review includes an overview of the various biological specimens and matrices in which these biomarkers could be analyzed, as well as the diverse strategies and approaches for identifying new biomarkers that are currently being explored. Several novel…
Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia
2021
Abstract Introduction Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. Methods This was a multicenter cross-sectional study of patients with a high suspicion of PCD according to European Respiratory Society criteria. We designed a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD. Results We includ…
Introduction: Recent Advances in Hereditary Neuromuscular Diseases of Childhood
2006
Diabetes and cancer: A critical appraisal of the pathogenetic and therapeutic links.
2014
Diabetes and cancer represent two common, multifactorial, chronic and potentially fatal diseases, not infrequently co-diagnosed in the same patient. Epidemiological data demonstrate significant increases of the cancer incidence in patients with obesity and diabetes, which is more evident for certain site-specific cancers. Although there is increasing evidence that strongly indicates an augmented risk of cancer in diabetic patients, several confounding factors complicate the ability to precisely assess the risk. Mainly in insulin-resistant states (such as in type 2 diabetes mellitus and in metabolic syndrome), direct associations between obesity-related hyperinsulinemia and increasing circul…
Glutamate Enhances Brain Damage from Ischemia and Trauma
1997
The amino acid glutamate is a model agent to demonstrate the significance of neurotoxic mediator compounds in secondary brain damage from trauma, ischemia or other adverse conditions. Intensive research of the role of mediator compounds is clinically worthwile as more specific forms of treatment may emerge for the benefit of afflicted patients. In view of the great number of factors, cytokines, etc., which could play a role, it is mandatory that a mediator function in secondary brain damage is identified according to the stringent requirements established for that purpose. Glutamate has been shown — as is the case for only a few other agents — to meet all the criteria of a mediator of secon…