Search results for "Multiple"
showing 10 items of 2678 documents
Grey matter damage and overall cognitive impairment in primary progressive multiple sclerosis
2011
Objectives: To identify associations between cognitive impairment and imaging measures in a cross-sectional study of patients with primary progressive multiple sclerosis (PPMS). Methods: Neuropsychological tests were administered to 27 patients with PPMS and 31 controls. Patients underwent brain conventional magnetic resonance imaging (MRI) sequences, volumetric scans and magnetization transfer (MT) imaging; MT ratio (MTR) parameters, grey matter (GM) and normal-appearing white matter (NAWM) volumes, and WM T2 lesion load (T2LL) were obtained. In patients, multiple linear regression models identified the imaging measure associated with the abnormal cognitive tests independently from the ot…
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
2010
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …
Self-Other Differentiation Scale: Dimensionality, IRT Parameterization, and Measurement Invariance
2018
The Self-Other Differentiation Scale (Olver, Aries, & Batgos, 1989) is a self-report instrument assessing the experience of a separate sense of self from others. The authors aimed to examine its dimensionality, reliability, and measurement invariance across gender. It was completed by 348 participants (48% men) from 17 to 30 years old in Study 1, 348 participants (40% men) from 18 to 28 years old in Study 2, and 1,068 participants (49% men) from 17 to 28 years old in Study 3. The results supported the hypothesis of just one factor underlying the scale; they also showed an appropriate internal consistency and a partial measurement invariance across gender. Results also showed evidence fo…
A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
2003
Cowden disease, also known as multiple hamartoma syndrome, is a rare disease inherited in an autosomal dominant pattern, which confers a high risk of developing breast and thyroid carcinomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with Cowden disease. In this work, the direct sequencing of all coding regions of the PTEN gene led us to the identification of N48K, a new germline PTEN missense mutation, in a patient suffering from Cowden disease. The genetic analysis of 200 chromosomes from healthy individuals revealed that the variant was not common in our population. Moreover, by functional analysis we found that the ability o…
Solid variant of mammary "adenoid cystic carcinoma with basaloid features" merging with "small cell carcinoma"
2005
We describe a rare case of a solid variant of a mammary adenoid cystic carcinoma with basaloid features (sbACC) and its coexistence with a "small cell" carcinoma (SCC), identified and confirmed by histological and immunohistochemical observations: the absence of glandular structures and PAS-positive globules, positivity for neuroendocrine markers (NSE, synaptophysin and chromogranin), and negativity for 34betaE12 and SMA actin were the aspects suggesting the presence of SCC. Furthermore, positivity for CD10 was found both in sbA CC and in SCC, supporting the hypothesis that the two components share the same histogenetic myoepithelial origin and represent an example of dedifferentiation alon…
Severe versus Local Odontogenic Bacterial Infections: Comparison of Microbial Isolates
2007
<i>Aim:</i> It was the aim of this study to evaluate the clinical and microbiological differences between severe and local odontogenic abscesses. <i>Methods:</i> Thirty patients were prospectively enrolled. Sixteen of 30 patients suffered from a severe life-threatening abscess of the head and neck, whereas 14/30 patients presented with a localized submucous abscess. Anaerobic bacteria were identified and susceptibility testing was performed using E test strips for penicillin, amoxicillin + clavulanic acid, imipenem + cilastatin, clindamycin and metronidazole. <i>Results:</i> The mean duration until removal of all drains was 14.1 and 3.5 days, respectively…
Three-dimensional sonographic diagnosis of a large cystic neck lymphangioma.
2004
Lymphangiomas are fairly well-circumscribed benign masses of lymphatic vessels or channels that vary in size, are usually greatly dilated, and are lined with normal endothelial cells. They may be classified into 3 groups: lymphangioma simplex, consisting of capillary-sized channels; cavernous lymphangiomas, consisting of dilated channels with a fibrous adventitial covering; and cystic lymphangiomas, or hygromas, composed of multiple cysts of varying sizes that are lined with endothelial cells. Mixed types may coexist within a given lesion. Although lymphangiomas can occur in any part of the body where lymphatic ducts are located, 95% of them are found in the neck, the head, or the axilla. 1…
The impact of isolated lesions on white-matter fiber tracts in multiple sclerosis patients
2015
Infratentorial lesions have been assigned an equivalent weighting to supratentorial plaques in the new McDonald criteria for diagnosing multiple sclerosis. Moreover, their presence has been shown to have prognostic value for disability. However, their spatial distribution and impact on network damage is not well understood. As a preliminary step in this study, we mapped the overall infratentorial lesion pattern in relapsing–remitting multiple sclerosis patients (N = 317) using MRI, finding the pons (lesion density, 14.25/cm3) and peduncles (13.38/cm3) to be predilection sites for infratentorial lesions. Based on these results, 118 fiber bundles from 15 healthy controls and a subgroup of 23 …
Interferon-beta exposure during first trimester is safe in women with multiple sclerosis-A prospective cohort study from the German Multiple Sclerosi…
2015
Background: Available data suggest that pregnancy exposure to interferon-beta might result in lower mean birth weight and preterm birth. Objective: To determine the effect of interferon-beta exposure during pregnancy on pregnancy outcomes in multiple sclerosis patients. Methods: We compared the pregnancy outcomes of women exposed to interferon-beta with pregnancies unexposed to disease-modifying therapies. Women were enrolled into the German Multiple Sclerosis and Pregnancy Registry. A standardized questionnaire was administered during pregnancy and postpartum. Detailed information on course of multiple sclerosis and pregnancy, concomitant medications, delivery, and outcome of pregnancy was…
Gynecological adverse effects of natalizumab administration: Case report and review of the literature.
2018
Abstract Background Natalizumab is administered for the treatment of relapsing-remitting multiple sclerosis (RR-MS) with high disease activity.Natalizumab therapy has been associated with adverse effects, such as progressive multifocal leukoencephalopathy, liver damage, nasopharyngitis, urinary tract infection, urticaria, cephalgia, dizziness, fatigue, nausea, fever, rigidity, anxiety and gastroenteritis. Objective To describe a case of a woman with RR-MS who developed recurrent vaginitis on natalizumab administration. Methods Case report and review of the literature. Results The case of a 26-year-old Caucasian woman with RR-MS, who presented with recurrent vaginitis since the initiation of…