Search results for "then"

Molecular characterization of congenital myasthenic syndromes in Spain.

2017

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far.. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, …

Autoimmune associations and autoantibody screening show focused recognition in patient subgroups with generalized myasthenia gravis

2013

Autoimmune associations in myasthenia gravis (MG)-patients and their relatives have not been re-assessed since their separation into early- or late-onset MG (EOMG, LOMG), or thymoma-associated MG. Here, we analysed 226 EOMG-, 97 LOMG-, and 150 thymoma-patients for autoimmune disorders in themselves and their relatives. From 283 of them sera were tested for different organ- and non-organ-specific autoantibodies (autoAbs) by immunofluorescence test (IFT) and ELISA; genotyping was performed in 213 patients. Relatives with autoimmune disorders were reported by more patients with EOMG (40% of 210) than LOMG (20% of 89; p0.01) than thymomas (8% of 150; p0.001). In 150 genotyped EOMG-females, the …

The ageing and myasthenic thymus: a morphometric study validating a standard procedure in the histological workup of thymic specimens.

2008

The thymus is believed to play an important role in the pathogenesis of myasthenia gravis (MG). The 80% of MG patients with anti-acetylcholine receptor autoantibodies fall into three clinical subgroups: 1) thymoma; 2) early-onset MG (<age of 40; EOMG) and 3) late-onset (LOMG; onset after 40). Thymectomy is widely used in EOMG, but its benefits have not been established in randomized controlled trials. A multicenter international trial (MGTX) currently seeks to determine whether thymectomy reduces corticosteroid requirements, and to look for correlations with thymic histology. We here describe the validated, standardized histological workup and reporting system used in this trial.

Morphology and dimensions of the dentogingival unit in the altered passive eruption.

2011

Objetives: This study define altered passive eruption (APE) and evaluate the morphology of the dentogingival unit. Material and Methods: 123 individuals subjected to clinical examination and parallel profile radiography of the upper central incisor. An evaluation was made of the correlation between the clinical diagnosis of APE and the degree of gingival overlap; by using a 19% overlap to define APE (Kappa concordance index = 0.7). The Mann-Whitney / Wilcoxon test was used to identify the variables influencing APE. Results: Statistically significant differences were observed between the teeth with and without APE: gingival width (p = 0.0073), clinical crown length (p = 0.0000), smiling expo…

End-plate dysfunction in acute organophosphate intoxication.

1989

Acute organophosphate intoxication resulting from suicide attempts in 14 patients produced a series of electrophysiologic abnormalities that correlated with the clinical course. Spontaneous repetitive firing of single evoked compound muscle action potentials (CMAP) was the earliest and most sensitive indicator of the acetylcholinesterase inhibition. A decrement of evoked CMAP following repetitive nerve stimulation was the most severe abnormality. At the height of the intoxication no CMAP was evoked after the first few stimuli. The decrement-increment phenomenon occurred only at milder stages of intoxication and its features are characteristic of acetylcholinesterase inhibition. These electr…

GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study

2021

Thymomas are the most frequent adult mediastinal cancers. Their etiology is unknown and their pathogenesis poorly understood. Racial, ethnic and environmental factors influence tumorigenesis in many cancers, but their role in thymomas remains unclear to date. In this study that included pretreatment thymoma cases from India and Germany (n = 37 and n = 77, respectively) we compared i) the prevalence of the thymoma-specific chromosome 7 c.74146970T &amp;gt; A mutation of the GTF2I gene in type A and AB thymomas; ii) epidemiological features; and iii) the frequency of myasthenia gravis (MG). Due to a known predominance of GTF2I mutation in A and AB histotypes, we included only a marginal numbe…

Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegenerati…

2011

Purpose: To present some unusual MR findings in a group of patients from the south-west of the Dominican Republic suffering from Pantothenate Kinase Associated Neurodegeneration (PKAN). Materials and Methods: Twenty patients and one preclinical case homozygous for the PANK2 mutation, 13 heterozygous gene carriers and 14 healthy volunteers were scanned prospectively using a 3 Tesla system. Results: All patients showed the typical signal reduction within the globus pallidus and the substantia nigra. A surprising finding was the absence of the bright spot (“tiger's eye”) in the medial part of the pallidum in 6 patients, but not in the preclinical case. Both fractional anisotropy (FA) and mean …

Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome

2020

A Follicular Dendritic Cell Sarcoma of the Mediastinum With Immature T Cells and Association With Myasthenia Gravis

2010

Follicular dendritic cell (FDC) sarcoma is a very rare neoplasm showing morphologic and phenotypic features of FDCs. It occurs primarily in lymph nodes but also in extranodal sites. So far, there have been no reports on FDC sarcoma associated with myasthenia gravis. In the following we will present a case of an FDC tumor of the mediastinum associated with paraneoplastic myasthenia gravis in a 39-year-old man. The tumor contained a major proportion of immature T cells, which may be connected to this patient's very unusual clinical presentation with autoimmune phenomena. Extranodal FDC sarcomas still seem hardly noticed, and their clinical and pathologic characteristics remain to be better de…

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

2020

[Objective] To describe the characteristics of patients with very-late-onset myasthenia gravis (MG).