Search results for "Multiple"
showing 10 items of 2678 documents
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
2015
Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. Results Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential and abnormally elongated cilia. Investigation of disease pathophysiology revealed that Kiaa0556-/- null mice possess…
Spanish Version of the Time Management Behavior Questionnaire for University Students
2012
The main objective of the study is to analyze the psychometric properties and predictive capacity on academic performance in university contexts of a Spanish adaptation of the Time Management Behavior Questionnaire. The scale was applied to 462 students newly admitted at the Universitat de València in the 2006-2007 school year. The analyses performed made it possible to reproduce the factorial structure of the original version of the questionnaire with slight modifications in the ascription of various ítems. The underlying factorial structure includes four interrelated dimensions (Establishing objectives and priorities, Time management tools, Perception of time control and Preference for di…
Corpus callosum function in verbal dichotic listening: inferences from a longitudinal follow-up of Relapsing-Remitting Multiple Sclerosis patients.
2009
This study conducted a follow-up of 13 early-onset slightly disabled Relapsing-Remitting Multiple Sclerosis (RRMS) patients within an year, evaluating both CC area measurements in a midsagittal Magnetic Resonance (MR) image, and Dichotic Listening (DL) testing with stop consonant vowel (C-V) syllables. Patients showed a significant progressive loss of posterior CC areas (isthmus and splenium) related to increasing EDSS scores and an enhancing right ear advantage (REA) over time. A significant correlation between posterior CC areas and DL scores emerged in both evaluations, being negative for the right and positive for the left ear. The pattern of correlations suggests that the CC can serve …
Investigation of the maxillary lateral incisor agenesis and associated dental anomalies in an orthodontic patient population
2011
CEYLAN, Ismail/0000-0002-8693-4175; KAMAK, HASAN/0000-0003-1910-3694 WOS: 000314401800025 PubMed: 22549676 Objectives: The aim of this study was to investigate the prevalence of maxillary lateral incisor (MLI) agenesis and associated dental anomalies as well as skeletal patterns in an orthodontic population, and then to compare it with the prevalence of these anomalies in the general population. Study Design: The material of the present study included the records of the 3872 orthodontic patients. The followings were recorded for each subject with the agenesis of MLI: Age, sex, unilateral or bilateral absence, anterior-posterior skeletal relationship of the maxilla and mandible, and presence…
An Intergenic rs9275596 Polymorphism on Chr. 6p21 Is Associated with Multiple Sclerosis in Latvians
2020
Background and objectives: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, leading to demyelination of neurons and potentially debilitating physical and mental symptoms. The disease is more prevalent in women than in men. The major histocompatibility complex (MHC) region has been identified as a major genetic determinant for autoimmune diseases, and its role in some neurological disorders including MS was evaluated. An intergenic single-nucleotide polymorphism (SNP), rs9275596, located between the HLA-DQB1 and HLA-DQA2 genes, is in significant association with various autoimmune diseases according to genome-wide association studies (GWASs). A cumulat…
Intravenous injection of bortezomib, melphalan and dexamethasone in refractory and relapsed multiple myeloma
2013
Abstract Background A combination of bortezomib (1.3 mg/m2), melphalan (5 mg/m2), and dexamethasone (40 mg) (BMD), with all three drugs given as a contemporary intravenous administration, was retrospectively evaluated. Patients and methods Fifty previously treated (median 2 previous lines) patients with myeloma (33 relapsed and 17 refractory) were assessed. The first 19 patients were treated with a twice-a-week (days 1, 4, 8, 11, ‘base’ schedule) administration while, in the remaining 31 patients, the three drugs were administered once a week (days 1, 8, 15, 22, ‘weekly’ schedule). Results Side-effects were predictable and manageable, with prominent haematological toxicity, and a better tox…
Synovial sarcoma and malignant mesothelioma of the pleura: Review, differential diagnosis and possible role of apoptosis
2001
Synovial sarcoma of the pleural cavity is exceptionally rare and may be confused, both clinically and histologically, with malignant mesothelioma, with subsequent inappropriate therapy. To address this dilemma, four biphasic synovial sarcomas (BSSs) and four biphasic malignant mesotheliomas (BMMs) were studied with a panel of mucin and immunohistochemical stains to determine if they would allow one to distinguish between the two. The BMMs were all pleural-based. The BSSs were extrapleural. The mucin and immunohistochemical stains were all performed on formalin-fixed, paraffin-embedded tissue using standard techniques, with appropriate positive and negative controls. Mucin present in BSS is,…
New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis
1994
To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1). © 1994 Wiley-Liss, Inc.
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
Functional connectivity analysis using whole brain and regional network metrics in MS patients
2016
In the present study we investigated brain network connectivity differences between patients with relapsing-remitting multiple sclerosis (RRMS) and healthy controls (HC) as derived from functional resonance magnetic imaging (fMRI) using graph theory. Resting state fMRI data of 18 RRMS patients (12 female, mean age ± SD: 42 ± 12.06 years) and 25 HC (8 female, 29.2 ± 5.38 years) were analyzed. In order to obtain information of differences in entire brain network, we focused on both, local and global network connectivity parameters. And the regional connectivity differences were assessed using regional network parameters. RRMS patients presented a significant increase of modularity in comparis…