Search results for "Genetic diagnosis"
showing 6 items of 26 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…
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…
Sensibilidad, especificidad y valor predictivo del análisis genético de variantes en el gen SLC3A1 aplicado al diagnóstico de cistinuria en población…
2001
Objetivo Estimar la validez clinica del analisis de las mutaciones puntuales R452W, M467T, 114C > A, 231T > A, 1136 + 3delT y 1332 + 7T > C en el gen SLC3A1, asi como de sus posibles haplotipos aplicados al diagnostico de cistinuria en poblacion mediterranea espanola. Material y metodos Se han estudiado 48 pacientes con cistinuria, 44 familiares sin cistinuria y 81 controles sanos. Se realizo un analisis genetico para la identificacion de variantes en el gen SLC3A1. Se calculo la sensibilidad, especificidad y valor predictivo para cada variante genetica y para los posibles haplotipos. Resultados La especificidad de las mutaciones M467T, R452W y 231T > A aplicadas al diagnostico de cistinuri…
Diagnosis of the neuronal ceroid lipofuscinoses: An update
2006
Abstract For the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a biochemical and/or genetic diagnosis can be achieved. In an individual case this information not only increases understanding of the condition but also may influence treatment choices and options. The presenting clinical features prompt initial investigation and also guide clinical care. The clinical labels “infantile NCL”, “late infantile NCL” and “juvenile NCL”, therefore remain useful in practice. In unusual or atypical cases ultra-structural analysis of white blood cells or other tissue samples enables planning and prioritisation of biochemical and genetic tests.This review describes cu…
Estudio de los valores plasmáticos de Lp(a) en el defecto familiar de unión de la apo B 100 en una población mediterránea del sur de Europa
2004
Aims: 1) to study lipoprotein (a) (Lp(a)) plasma values in subjects with familial ligand-defective apo B 100 (FDB). Methods: We studied 19 heterozygous FDB subjects (8 males) from 12 families, carriers of R3500Q mutation on apo B gene and 90 controls (34 males). The genetic diagnosis was established with PCR-SSCP analysis and automatic sequencing. In all subjects plasma lipids, apoli-poprotein B and Lp(a) levels were determined with standard procedures. Results: Subjects carriers of R3500Q mutation on apo B gene have significantly higher plasma Lp(a) and log transformed Lp(a) values and prevalence of Lp(a) > 30 cut point for coronary heart disease than controls. Conclusions: Subjects with F…
Embryologic outcome and secretome profile of implanted blastocysts obtained after coculture in human endometrial epithelial cells versus the sequenti…
2008
Objective To compare embryologic and clinical outcomes in terms of preimplantation development, implantation, pregnancy rates, and secretome profile of implanted blastocysts from the preimplantation genetic diagnosis program grown in sequential versus endometrial epithelial cell (EEC) coculture system. Design Retrospective clinical study and prospective experimental study. Setting In vitro fertilization clinical unit and university research laboratory. Intervention(s) Blastomere biopsy, embryo culture, blastocyst transfer, and protein analysis of the media conditioned from implanted embryos obtained from coculture and sequential systems. Main Outcome Measure(s) Clinical study: blastocyst, i…