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1.
R Soc Open Sci ; 7(11): 201342, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33391808

RESUMEN

Fetal craniofacial abnormalities are challenging to detect and diagnose on prenatal ultrasound (US). Image segmentation and computer analysis of three-dimensional US volumes of the fetal face may provide an objective measure to quantify fetal facial features and identify abnormalities. We have developed and tested an atlas-based partially automated facial segmentation algorithm; however, the volumes require additional manual segmentation (MS), which is time and labour intensive and may preclude this method from clinical adoption. These manually refined segmentations can then be used as a reference (atlas) by the partially automated segmentation algorithm to improve algorithmic performance with the aim of eliminating the need for manual refinement and developing a fully automated system. This study assesses the inter- and intra-operator variability of MS and tests an optimized version of our automatic segmentation (AS) algorithm. The manual refinements of 15 fetal faces performed by three operators and repeated by one operator were assessed by Dice score, average symmetrical surface distance and volume difference. The performance of the partially automatic algorithm with difference size atlases was evaluated by Dice score and computational time. Assessment of the manual refinements showed low inter- and intra-operator variability demonstrating its suitability for optimizing the AS algorithm. The algorithm showed improved performance following an increase in the atlas size in turn reducing the need for manual refinement.

2.
Eur J Neurol ; 22(12): 1548-55, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26204789

RESUMEN

BACKGROUND AND PURPOSE: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. METHODS: The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies, in silico analysis and luciferase reporter assays. RESULTS: A novel c.1226G>A change (p.R409Q) in the EGR2 gene was identified. Patients presented with a typical, late-onset axonal CMT phenotype with variable severity that was confirmed in the ancillary tests. The in silico studies showed that the residue R409 is an evolutionary conserved amino acid. The p.R409Q mutation, which is predicted as probably damaging, would alter the conformation of the protein slightly and would cause a decrease of gene expression. CONCLUSIONS: This is the first report of an EGR2 mutation presenting as an axonal CMT phenotype with variable severity. This study broadens the phenotype of the EGR2-related neuropathies and suggests that the genetic testing of patients suffering from axonal CMT should include the EGR2 gene.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/genética , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Proteína 2 de la Respuesta de Crecimiento Precoz/genética , Adulto , Anciano , Anciano de 80 o más Años , Axones/patología , Enfermedad de Charcot-Marie-Tooth/patología , Exoma , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Fenotipo , Índice de Severidad de la Enfermedad , Adulto Joven
3.
Neurologia ; 27(3): 169-78, 2012 Apr.
Artículo en Español | MEDLINE | ID: mdl-21703725

RESUMEN

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV < 38 m/s); CMT2 (AD or X-linked transmission and MCV > 38 m/s); CMT4 (autosomal recessive [AR] and severe slowing of MCV); AR-CMT2 (AR transmission and MCV > 38 m/s); and DI-CMT (intermediate form with AD transmission and MCV between 30 and 40 m/s). In spite of its stereotyped semiological repertoire (basically, symptoms and signs of sensory-motor polyneuropathy and pes cavus), CMT seems to be one of the most complex hereditary neurodegenerative syndromes, 31 causative genes having been cloned. DEVELOPMENT: This paper is aimed at performing a nosological review of the disease, emphasising the guidelines for its molecular diagnosis. Genetic epidemiological studies and genotypes reported in Spanish patients are revised. CONCLUSIONS: In the great majority of CMT cases, mutations involve a reduced number of genes, namely: for CMT1, PMP22, GJB1 and MPZ; for CMT2, MFN2 and GJB1; for CMT4, GDAP1, and NDRG1, HK1 and SH3TC2 (gypsies); for AR-CMT2, GDAP1; and for DI-CMT, GJB1 and MPZ. Given their low prevalence, mutations in other pathogenic genes should be investigated after discarding the previous ones. There is no place for the indiscriminate use of diagnostic CMT genetic panels.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/diagnóstico , Enfermedad de Charcot-Marie-Tooth/genética , Marcadores Genéticos , Guías como Asunto , Humanos , Epidemiología Molecular , Mutación/genética , Mutación/fisiología
4.
J Neurol ; 259(5): 851-4, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-21984193

RESUMEN

Cerebellar adult onset ataxia is a heterogeneous condition. The aim of this study was to ascertain if there is a heightened autoimmune background in patients with sporadic cerebellar ataxia of unknown origin, and if autoimmunity correlates with a more rapid evolution of the ataxia. We selected patients with sporadic progressive adult onset cerebellar ataxia with a follow-up of >5 years. As controls we included 43 patients with genetically demonstrated hereditary ataxia. All patients were tested for a panel of neuronal (onconeuronal, glutamate-decarboxylase [GAD], IgG/IgA transglutaminase 6 antibodies) and systemic non-neuronal antibodies (including IgG/IgA gliadin and transglutaminase 2, thyroperoxidase, thyroglobulin, antinuclear, striational, smooth muscle, mitochondrial, liver kidney microsomal, and parietal gastric cells antibodies). Correlation between the antibodies and disease progression was studied with Cox regression models and Kaplan-Meier plots. Forty-four patients were included. All patients were negative for onconeuronal or GAD antibodies. There were no significant differences between patients and controls in the prevalence of transglutaminase 6, 2, gliadin, or thyroid antibodies. However, when we studied the panel of systemic non-neuronal autoantibodies as a group, antibodies were more frequent in patients with sporadic ataxia (p = 0.018). The presence of one or more systemic non-neuronal antibodies correlated with a faster evolution to stage 2 (loss of independent gait) (p = 0.03) and shorter survival (p = 0.03) in patients with sporadic ataxia. We conclude that there is probably a heightened autoimmune background in some patients with sporadic cerebellar ataxia of unknown origin. The presence of systemic non-neuronal autoantibodies is a prognostic marker.


Asunto(s)
Autoinmunidad/fisiología , Ataxia Cerebelosa/diagnóstico , Ataxia Cerebelosa/inmunología , Anciano , Autoanticuerpos/inmunología , Progresión de la Enfermedad , Femenino , Proteínas de Unión al GTP/inmunología , Gliadina/inmunología , Glutamato Descarboxilasa/inmunología , Humanos , Estudios Longitudinales , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Proteínas del Tejido Nervioso/inmunología , Proteína Glutamina Gamma Glutamiltransferasa 2 , Estudios Retrospectivos , Estadísticas no Paramétricas , Transglutaminasas/inmunología
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