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Sample records for adult nodular sclerosis

  1. Syncytial Variant of Nodular Sclerosis Classical Hodgkin Lymphoma of the Terminal Ileum in a Patient with Longstanding Crohn's Disease.

    PubMed

    Gibson, Bradley; Podoll, Mirna Bajramovic; Baumgartner, Erin Marie; Maley, Diana Haninger

    2016-01-01

    Primary Hodgkin lymphoma of the gastrointestinal tract is an uncommon malignancy with few reported cases. Here we describe a rare variant of Hodgkin lymphoma presented in the gastrointestinal tract in association with Crohn's Disease.The patient is a 58 year old male with a 40 year history of formerly well-controlled Crohn's disease who presented with abdominal discomfort and constitutional symptoms. Computed tomography showed a 10 cm thickened segment of ileum and a dilated segment of small bowel. The patient underwent segmental resection, revealing a mass, which was diagnosed by pathology as nodular sclerosis classical Hodgkin lymphoma, syncytial variant.There are only 29 reported cases of syncytial variant of nodular sclerosis classical Hodgkin lymphoma. This is the second documented case of primary gastrointestinal syncytial variant of nodular sclerosis classical Hodgkin lymphoma. Further characterization of this entity is necessary.

  2. Differences in outcome of patients with syncytial variant Hodgkin lymphoma compared with typical nodular sclerosis Hodgkin lymphoma

    PubMed Central

    Sethi, Tarsheen; Nguyen, Van; Li, Shaoying; Morgan, David; Greer, John; Reddy, Nishitha

    2016-01-01

    Background: Nodular sclerosis Hodgkin lymphoma (NS-HL) is the most common subtype of HL and usually has a good prognosis. A variant of NS, the syncytial variant (SV) has well-established histopathologic features but little is known about its clinical behavior. Small case series have suggested that SV patients present with advanced disease and have a comparatively aggressive course. The objective of this study was to determine the clinical characteristics and outcome of SV patients Methods: A total of 167 adult patients with NS-HL including 43 patients with SV and 124 patients with typical NS (t-NS) were included in our analysis following institutional review board (IRB) approval. The Kaplan–Meier method was used to calculate the progression-free survival (PFS) and overall survival (OS). Log-rank test was used to determine the differences in survival. Results: Of the 167 patients, 43 were confirmed as SV based on morphology and immunophenotype. Doxorubicin, bleomycin, vinblastine and dacarbazine (ABVD) was the most frequent induction regimen administered in 91% of all patients. The rate of complete response (CR) in the SV group was 74% versus 87% in the t-NS group (p = 0.05). At 49 months follow up, the PFS was 17 months in the SV group and not reached in the t-NS group [p < 0.0001; hazard ratio (HR) = 3.695; 95% confidence interval (CI) = 3.0, 11.07]. The median OS was not reached in both groups (p = 0.32). Conclusions: Our results show that SV histology represents a poor risk group with lower CR rate and shorter PFS and this should be considered in the risk stratification of classical HL patients. PMID:28042455

  3. Nodular lymphoid hyperplasia in the gastrointestinal tract in adult patients: A review.

    PubMed

    Albuquerque, Andreia

    2014-11-16

    Nodular lymphoid hyperplasia of the gastrointestinal tract is characterized by the presence of multiple small nodules, normally between between 2 and 10 mm in diameter, distributed along the small intestine (more often), stomach, large intestine, or rectum. The pathogenesis is largely unknown. It can occur in all age groups, but primarily in children and can affect adults with or without immunodeficiency. Some patients have an associated disease, namely, common variable immunodeficiency, selective IgA deficiency, Giardia infection, or, more rarely, human immunodeficiency virus infection, celiac disease, or Helicobacter pylori infection. Nodular lymphoid hyperplasia generally presents as an asymptomatic disease, but it may cause gastrointestinal symptoms like abdominal pain, chronic diarrhea, bleeding or intestinal obstruction. A diagnosis is made at endoscopy or contrast barium studies and should be confirmed by histology. Its histological characteristics include markedly hyperplasic, mitotically active germinal centers and well-defined lymphocyte mantles found in the lamina propria and/or in the superficial submucosa, distributed in a diffuse or focal form. Treatment is directed towards associated conditions because the disorder itself generally requires no intervention. Nodular lymphoid hyperplasia is a risk factor for both intestinal and, very rarely, extraintestinal lymphoma. Some authors recommend surveillance, however, the duration and intervals are undefined.

  4. Scleroderma with Nodular Scleroderma

    PubMed Central

    Srisuttiyakorn, Chutika; Aunhachoke, Kobkul

    2016-01-01

    Background Nodular scleroderma is a rare variant of scleroderma which can occur in connection with systemic sclerosis or morphea. A biopsy from the lesion can demonstrate the scleroderma pattern, i.e., keloid pattern or mixed type. Treatment is challenging, and several treatments modalities have been reported with unsatisfactory results. Main Observations We present a case of systemic sclerosis in a 50-year-old female who developed nodular scleroderma in the absence of deterioration of the scleroderma condition. Although no additional treatment was given, the lesions remained stable without progression. Conclusions Although this condition is rare, it has been reported sporadically, and clinicians should be able to recognize this variant in cases of scleroderma presenting with firm nodules or plaques. PMID:27920682

  5. Specialized housing and transportation needs of adults with multiple sclerosis.

    PubMed

    Roessler, Richard T; Bishop, Malachy; Rumrill, Phillip D; Sheppard-Jones, Kathleen; Waletich, Brittany; Umeasiegbu, Veronica; Bishop, Lisa

    2013-01-01

    This study evaluated the specialized housing, transportation, and resource needs and barriers of adults with MS. Information pertaining to barriers and barrier removal strategies related to housing and transportation issues for adults with MS was gathered as part of a national survey of a randomly selected and representative sample of 5082 adults with MS, in cooperation with affiliate chapters of the National Multiple Sclerosis Society (NMSS) and the North American Research Committee on Multiple Sclerosis (NARCOMS). This article presents a qualitative analysis of participants' responses to questions addressing: (a) barriers to obtaining specialized housing and adapted transportation for individuals with MS, (b) factors contributing to maintenance of an independent lifestyle, and (c) information and referral resources pertinent to obtaining specialized housing and adapted transportation. The results provide the first assessment of these issues on a national scale and underscore the need for increased access to professional consultation, financial resources, and housing modification information and resources to enable persons with MS to obtain the specialized housing needed to maintain maximal independent lifestyles.

  6. Clinical Characteristics of Pediatric-Onset and Adult-Onset Multiple Sclerosis in Hispanic Americans.

    PubMed

    Langille, Megan M; Islam, Talat; Burnett, Margaret; Amezcua, Lilyana

    2016-07-01

    Multiple sclerosis can affect pediatric patients. Our aim was to compare characteristics between pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanic Americans. This was a cross-sectional analysis of 363 Hispanic American multiple scleroses cases; demographic and clinical characteristics were analyzed. A total of 110 Hispanic patients presented with multiple sclerosis before age 18 and 253 as adult multiple sclerosis. The most common presenting symptoms for both was optic neuritis. Polyfocal symptoms, seizures, and cognitive symptoms at presentation were more prevalent in pediatric-onset multiple sclerosis (P ≤ .001). Transverse myelitis was more frequent in adult-onset multiple sclerosis (P ≤ .001). Using multivariable analysis, pediatric-onset multiple sclerosis (adjusted odds ratio, 0.3OR 95% confidence interval 0.16-0.71, P = .004) and being US born (adjusted odds ratio, 0.553, 95% confidence interval 0.3-1.03, P = .006) were less likely to have severe ambulatory disability. Results suggest that pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanics have differences that could be important for treatment and prognosis.

  7. Satisfaction with Communicative Participation as Defined by Adults with Multiple Sclerosis: A Qualitative Study

    ERIC Educational Resources Information Center

    Yorkston, Kathryn M.; Baylor, Carolyn R.; Klasner, Estelle R.; Deitz, Jean; Dudgeon, Brian J.; Eadie, Tanya; Miller, Robert M.; Amtmann, Dagmar

    2007-01-01

    Purpose: This study examined satisfaction with communicative participation as reported by adults with multiple sclerosis (MS). Method: Eight community-dwelling adults with MS participated in semi-structured interviews. They were asked to discuss their satisfaction with their communication in a variety of situations. Interviews were analyzed using…

  8. Gender Effect According to Item Directionality on the Perceived Stress Scale for Adults with Multiple Sclerosis

    ERIC Educational Resources Information Center

    Gitchel, W. Dent; Roessler, Richard T.; Turner, Ronna C.

    2011-01-01

    Assessment is critical to rehabilitation practice and research, and self-reports are a commonly used form of assessment. This study examines a gender effect according to item wording on the "Perceived Stress Scale" for adults with multiple sclerosis. Past studies have demonstrated two-factor solutions on this scale and other scales measuring…

  9. Gender and Perceived Illness Severity: Differential Indicators of Employment Concerns for Adults with Multiple Sclerosis?

    ERIC Educational Resources Information Center

    Roessler, Richard T.; Turner, Ronna C.; Robertson, Judith L.; Rumrill,Phillip D.

    2005-01-01

    Although research has indicated a link between gender and perceived illness severity and the employment status of people with multiple sclerosis (MS), it has not addressed questions regarding the relationship between those variables and specific types of employment concerns. In this study, a sample of 1,310 adults with MS replied to a mail survey…

  10. EBV may be expressed in the LP cells of nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) in both children and adults.

    PubMed

    Huppmann, Alison R; Nicolae, Alina; Slack, Graham W; Pittaluga, Stefania; Davies-Hill, Theresa; Ferry, Judith A; Harris, Nancy Lee; Jaffe, Elaine S; Hasserjian, Robert P

    2014-03-01

    Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) and classical Hodgkin lymphoma (CHL) are classified separately because of their distinct clinical and pathologic features. Whereas Epstein-Barr virus (EBV) is detected in the neoplastic cells of 25% to 70% of CHL, NLPHL is generally considered to be EBV(-). We assessed EBV status in 302 pediatric and adult cases of NLPHL. A total of 145 pediatric (age 18 y or younger) and 157 adult cases of NLPHL were retrieved from 3 North American centers and tested for EBV by in situ hybridization (EBV-encoded small RNA). Clinical and pathologic features were analyzed. Five (3.4%) pediatric and 7 (4.5%) adult NLPHL cases contained EBV(+) lymphocyte-predominant (LP) cells. Although all 12 cases met the criteria for diagnosis of NLPHL, atypical features were present, including capsular fibrosis, atrophic germinal centers, and pleomorphic or atypical LP cells. CD20 and OCT-2 were strongly and diffusely positive in all except 1 case. However, PAX5 and CD79a were weak and/or variable in 7/8 and 6/6 cases tested, respectively. EBV(+) cases were more likely to be CD30(+) (75%) compared with EBV(-) cases (25%) (P=0.0007); CD15 was negative in all cases. Our results show that EBV(+) LP cells may occur in NLPHL. Distinguishing EBV(+) NLPHL from CHL can be challenging, as EBV(+) NLPHL can have partial expression of CD30 and weak PAX5 staining as well as pleomorphic-appearing LP cells. However, the overall appearance and maintenance of B-cell phenotype, with strong and diffuse CD20 and OCT-2 expression, support the diagnosis of NLPHL in these cases.

  11. Characterizing sleep disorders of adults with tuberous sclerosis complex: A questionnaire-based study and review

    PubMed Central

    van Eeghen, Agnies M.; Numis, Adam I.; Staley, Brigid A.; Therrien, Samuel E.; Thibert, Ronald L.; Thiele, Elizabeth A.

    2012-01-01

    An adult cohort with tuberous sclerosis complex was investigated for the prevalence of sleep disturbances and the relationship with seizure variables, medication, and psychological functioning. Information on 35 adults was gathered using four questionnaires: Epworth Sleepiness Scale (ESS), Sleep and Epilepsy Questionnaire (SEQ), Sleep Diagnosis List (SDL), and Adult Self-Report Scale (ASR). In addition, clinical, genetic and electrophysiological data were collected. Of 35 respondents, 25 had a history of epilepsy. A subjective sleep disorder was found in 31% of the cohort. Insomnia scores showed a significant positive correlation with obstructive sleep apnea syndrome and restless legs syndrome scores. Significant correlations were found between daytime sleepiness and scores on depression, antisocial behavior, and use of mental health medication. A subgroup using antiepileptic medication showed high correlations between daytime sleepiness, attention deficits, and anxiety scores. PMID:21130696

  12. Comparison of Intelligibility Measures for Adults with Parkinson's Disease, Adults with Multiple Sclerosis, and Healthy Controls

    ERIC Educational Resources Information Center

    Stipancic, Kaila L.; Tjaden, Kris; Wilding, Gregory

    2016-01-01

    Purpose: This study obtained judgments of sentence intelligibility using orthographic transcription for comparison with previously reported intelligibility judgments obtained using a visual analog scale (VAS) for individuals with Parkinson's disease and multiple sclerosis and healthy controls (K. Tjaden, J. E. Sussman, & G. E. Wilding, 2014).…

  13. Levels and Rates of Physical Activity in Older Adults with Multiple Sclerosis

    PubMed Central

    Klaren, Rachel E.; Sebastiao, Emerson; Chiu, Chung-Yi; Kinnett-Hopkins, Dominique; McAuley, Edward; Motl, Robert W.

    2016-01-01

    There is much evidence supporting the safety and benefits of physical activity in adults with multiple sclerosis (MS) and recent evidence of beneficial effects on physical function in older adults with MS. However, there is very little known about physical activity participation in older adults with conditions such as MS. This study compared levels of physical activity (i.e., sedentary behavior, light physical activity (LPA), and moderate-to-vigorous physical activity (MVPA)) and rates of meeting public health guidelines for MVPA (i.e., ≥30 min/day) among young (i.e., ages 20-39 years), middle-aged (i.e., ages 40-59 years) and older adults (i.e., ages ≥60 years) with MS. The sample included 963 persons with MS who provided demographic and clinical information and wore an accelerometer for a 7-day period. The primary analysis involved a between-subjects ANOVA on accelerometer variables (i.e., accelerometer wear time; number of valid days; sedentary behavior in min/day; LPA in min/day; and MVPA in min/day). Collectively, our data indicated that older adults with MS engaged in less MVPA and more sedentary behavior than middle-aged and young adults with MS. Such results highlight the importance of developing physical activity interventions as an effective means for managing the progression and consequences of MS in older adults. PMID:27330842

  14. B-cell populations discriminate between pediatric- and adult-onset multiple sclerosis

    PubMed Central

    Schwarz, Alexander; Balint, Bettina; Korporal-Kuhnke, Mirjam; Jarius, Sven; von Engelhardt, Kathrin; Fürwentsches, Alexandra; Bussmann, Cornelia; Ebinger, Friedrich; Haas, Jürgen

    2016-01-01

    Objective: To comparatively assess the B-cell composition in blood and CSF of patients with pediatric-onset multiple sclerosis (pedMS) and adult-onset multiple sclerosis (adMS). Methods: In this cross-sectional study, we obtained blood and CSF samples from 25 patients with pedMS (8–18 years) and 40 patients with adMS (23–65 years) and blood specimens from 66 controls (1–55 years). By using multicolor flow cytometry, we identified naive, transitional, isotype class-switched memory, nonswitched memory, and double-negative memory B-cell subsets as well as plasmablasts (PB) and terminally differentiated plasma cells (PC). Flow cytometric data were compared to concentrations of B-cell-specific cytokines in serum and CSF as determined by ELISA. Results: Frequencies of circulating naive B-cells decreased with higher age in controls but not in patients with multiple sclerosis (MS). B-cell patterns in CSF differed between pedMS and adMS with an acute relapse: in pedMS-derived CSF samples, high frequencies of nonswitched memory B cells and PB were present, whereas class-switched memory B cells and PC dominated in the CSF of patients with adMS. In pedMS, PB were also elevated in the periphery. Accumulation of PB in the CSF correlated with high intrathecal CXCL-13 levels and augmented intrathecal synthesis of immunoglobulin G and immunoglobulin M. Conclusions: We demonstrate distinct changes in intrathecal B-cell homeostasis in patients with pedMS during active disease, which differ from those in adults by an expansion of plasmablasts in blood and CSF and similarly occur in prototypic autoantibody-driven autoimmune disorders. This emphasizes the particular importance of activated B-lymphocyte subsets for disease progression in the earliest clinical stages of MS. PMID:28053999

  15. The Relationship of Selected Supply- and Demand-Side Factors to Forms of Perceived Discrimination among Adults with Multiple Sclerosis

    ERIC Educational Resources Information Center

    Roessler, Richard T.; Neath, Jeanne; McMahon, Brian T.; Rumrill, Phillip D.

    2007-01-01

    Single-predictor and stepwise multinomial logistic regression analyses and an external validation were completed on 3,082 allegations of employment discrimination by adults with multiple sclerosis. Women filed two thirds of the allegations, and individuals between 31 and 50 made the vast majority of discrimination charges (73%). Allegations…

  16. Employment among Working-Age Adults with Multiple Sclerosis: A Data-Mining Approach to Identifying Employment Interventions

    ERIC Educational Resources Information Center

    Bishop, Malachy; Chan, Fong; Rumrill, Phillip D., Jr.; Frain, Michael P.; Tansey, Timothy N.; Chiu, Chung-Yi; Strauser, David; Umeasiegbu, Veronica I.

    2015-01-01

    Purpose: To examine demographic, functional, and clinical multiple sclerosis (MS) variables affecting employment status in a national sample of adults with MS in the United States. Method: The sample included 4,142 working-age (20-65 years) Americans with MS (79.1% female) who participated in a national survey. The mean age of participants was…

  17. Psychopathology in Tuberous Sclerosis: An Overview and Findings in a Population-Based Sample of Adults with Tuberous Sclerosis

    ERIC Educational Resources Information Center

    Raznahan, A.; Joinson, C.; O'Callaghan, F.; Osborne, J. P.; Bolton, P. F.

    2006-01-01

    Background: Tuberous sclerosis (TS) is a multi- system disorder with complex genetics. The neurodevelopmental manifestations of TS are responsible for considerable morbidity. The prevalence of epilepsy and intellectual disabilities among individuals with TS have been well described. Ours is the first study that explores the prevalence and pattern…

  18. Correlates of stages of change for physical activity in adults with multiple sclerosis.

    PubMed

    Plow, Matthew A; Finlayson, Marcia; Cho, Chi

    2011-10-01

    The Transtheoretical Model (TTM) is commonly used to understand physical activity (PA) behavior in the general population; however, few researchers have explored its relevance for persons with multiple sclerosis (MS). We examined the relative importance of health (symptoms and mobility impairments) and TTM constructs (behavioral and cognitive processes of change) in influencing stages of change placement for PA in a sample of 303 persons with MS using discriminant function analysis. The overall accuracy of predicting stages of change was 58.75%. Behavioral (r(2)  = .35) and cognitive processes (r(2)  = .17) accounted for the most variance, followed by mobility (r(2)  = .11) and self-efficacy (r(2)  = .05). Results provide support for evaluating whether TTM-based interventions can promote PA in adults with MS.

  19. A Qualitative Study of Multiple Health Behaviors in Adults with Multiple Sclerosis

    PubMed Central

    Golding, Meghan

    2016-01-01

    Background: Evidence regarding inflammatory pathways, elevated cardiovascular risk, and negative effects of secondary conditions on disability progression provide a strong rationale for promoting multiple health behaviors in adults with multiple sclerosis (MS). However, many unanswered questions remain about the best ways to design multiple behavior change interventions for adults with MS. We sought to identify facilitators and barriers to engaging in multiple health behaviors (physical activity, nutrition, and sleep) and to gain further insights into how to develop multiple health behavior change interventions based on preferences of adults with MS. Methods: Focus groups and one-on-one interviews were conducted with 17 participants with MS. Results: Five qualitative themes were identified as either facilitating or hindering engagement in multiple health behaviors: 1) roles, priorities, and preferences; 2) sense of duty; 3) the fatigue and mobility problem; 4) taking control; and 5) resiliency. Participants identified advantages and disadvantages of delivery formats (eg, face-to-face group vs. telephone), frequency of contacts, and intervention strategies based on their individual circumstances and obligations. Participants felt that discussing the benefits of engaging in multiple health behaviors, developing action plans, accommodating preferences, and addressing health problems would be helpful strategies to include in a multiple behavior change intervention. Conclusions: These findings indicate that there may be common facilitators and barriers that can be targeted to promote multiple behavior changes. Future research should explore the best ways to tailor multiple behavior change interventions to preferences, symptoms, psychological traits, and social cognitions. PMID:27803640

  20. Comparison of Intelligibility Measures for Adults With Parkinson's Disease, Adults With Multiple Sclerosis, and Healthy Controls

    PubMed Central

    Tjaden, Kris; Wilding, Gregory

    2016-01-01

    Purpose This study obtained judgments of sentence intelligibility using orthographic transcription for comparison with previously reported intelligibility judgments obtained using a visual analog scale (VAS) for individuals with Parkinson's disease and multiple sclerosis and healthy controls (K. Tjaden, J. E. Sussman, & G. E. Wilding, 2014). Method Speakers read Harvard sentences in habitual, clear, loud, and slow conditions. Sentence stimuli were equated for peak intensity and mixed with multitalker babble. A total of 50 listeners orthographically transcribed sentences. Procedures were identical to those for a VAS reported in Tjaden, Sussman, and Wilding (2014). Results The percent correct scores from transcription were significantly higher in magnitude than the VAS scores. Multivariate linear modeling indicated that the pattern of findings for transcription and VAS was virtually the same with respect to differences among groups and speaking conditions. Correlation analyses further indicated a moderately strong, positive relationship between the two metrics. The majority of these correlations were significant. Last, intrajudge and interjudge listener reliability metrics for the two intelligibility tasks were comparable. Conclusion Results suggest that there may be instances when the less time-consuming VAS task may be a viable substitute for an orthographic transcription task when documenting intelligibility in mild dysarthria. PMID:26556727

  1. Nodular Fasciitis of the Orbit.

    PubMed

    Compton, Christopher J; Clark, Jeremy D; Thompson, Matthew P; Lee, Hui Bae H; Nunery, William R

    A 13-month-old boy was presented with new onset proptosis of the right eye. CT scan and MRI showed an enhancing mass in the right superior orbit with local bone remodeling and erosion. A craniotomy was performed for biopsy and sub-total resection. Histopathology and immunohistochemistry confirmed the lesion to be nodular fasciitis. Nodular fasciitis lesions are classically found in the anterior ocular adnexa, especially in pediatric patients. This is the first reported case of nodular fasciitis arising in the posterior orbit of a child younger than 16.

  2. Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis

    PubMed Central

    Yang, Yi; Lynch, David R.; Lukas, Thomas; Ahmeti, Kreshnik; Sleiman, Patrick M.A.; Ryan, Eanna; Schadt, Kimberly A.; Newman, Jordan H.; Deng, Han-Xiang; Siddique, Nailah

    2016-01-01

    Objective: To identify the genetic defect for adult-onset primary lateral sclerosis (PLS) in a family with 5 patients. Methods: Whole-exome sequencing was performed to identify the shared genetic variants in 3 affected members in a PLS family with 5 affected individuals. Sanger sequencing was used for validation of the variants and for cosegregation analysis. Mitochondrial activity for both patients and unaffected siblings was measured using a SeaHorse metabolic analyzer. Results: Whole-exome sequencing and subsequent cosegregation analysis demonstrated that compound heterozygous missense variants L695P and I743T in SPG7 were the only mutations cosegregating with the disease in an autosomal recessive fashion in this family. The parents and siblings are genetically heterozygous and clinically unaffected. Functional studies suggested that the PLS-associated SPG7 mutants affect mitochondrial function when glucose is reduced. Conclusions: Compound heterozygote mutations in SPG7 are associated with adult-onset PLS, extending the spectrum of SPG7-linked neurologic diseases. Patients with the PLS phenotype should have genetic testing for paraplegin, especially when the condition is familial. PMID:27123479

  3. Development of evidence-informed physical activity guidelines for adults with multiple sclerosis.

    PubMed

    Latimer-Cheung, Amy E; Martin Ginis, Kathleen A; Hicks, Audrey L; Motl, Robert W; Pilutti, Lara A; Duggan, Mary; Wheeler, Garry; Persad, Ravin; Smith, Karen M

    2013-09-01

    Most adults with multiple sclerosis (MS) are physically inactive. Physical activity guidelines are an important tool for exercise prescription, promotion, and monitoring. This article describes the application of international standards for guideline development in the creation of evidence-based physical activity guidelines for people with MS. The development process was informed by the Appraisal of Guidelines Research and Evaluation II instrument. The evidence base for the guidelines consisted of a systematic review of research examining the effects of exercise on fitness, fatigue, mobility, and health-related quality of life among people with MS. A multidisciplinary consensus panel deliberated the evidence and generated the guidelines and a preamble. Expert and stakeholder reviews of the materials led to refinement of the wording of both components of the guidelines. The resulting guidelines state that to achieve important fitness benefits, adults with MS who have mild to moderate disability need at least 30 minutes of moderate intensity aerobic activity 2 times per week and strength training exercises for major muscle groups 2 times per week. Meeting these guidelines may also reduce fatigue, improve mobility, and enhance elements of health-related quality of life. People with MS and health professionals are encouraged to adopt these rigorously developed guidelines.

  4. Brain activation changes during locomotion in middle-aged to older adults with multiple sclerosis.

    PubMed

    Hernandez, Manuel E; Holtzer, Roee; Chaparro, Gioella; Jean, Kharine; Balto, Julia M; Sandroff, Brian M; Izzetoglu, Meltem; Motl, Robert W

    2016-11-15

    Mobility and cognitive impairments are common in persons with multiple sclerosis (MS), and are expected to worsen with increasing age. However, no studies, to date, in part due to limitations of conventional neuroimaging methods, have examined changes in brain activation patterns during active locomotion in older patients with MS. This study used functional Near Infrared Spectroscopy (fNIRS) to evaluate real-time neural activation differences in the pre-frontal cortex (PFC) between middle-aged to older adults with MS and healthy controls during single (Normal Walk; NW) and dual-task (Walking While Talking; WWT) locomotion tasks. Eight middle-aged to older adults with MS and eight healthy controls underwent fNIRS recording while performing the NW and WWT tasks with an fNIRS cap consisting of 16 optodes positioned over the forehead. The MS group had greater elevations in PFC oxygenation levels during WWT compared to NW than healthy controls. There was no walking performance difference between groups during locomotion. These findings suggest that middle-aged to older individuals with MS might be able to achieve similar levels of performance through the use of increased brain activation. This study is the first to investigate brain activation changes during the performance of simple and divided-attention locomotion tasks in MS using fNIRS.

  5. Autoantibodies to MOG in a distinct subgroup of adult multiple sclerosis

    PubMed Central

    Spadaro, Melania; Gerdes, Lisa Ann; Krumbholz, Markus; Ertl-Wagner, Birgit; Thaler, Franziska Sabrina; Schuh, Elisabeth; Metz, Imke; Blaschek, Astrid; Dick, Andrea; Brück, Wolfgang; Hohlfeld, Reinhard; Meinl, Edgar

    2016-01-01

    Objectives: To evaluate the presence of antibodies to conformation-intact myelin oligodendrocyte glycoprotein (MOG) in a subgroup of adult patients with clinically definite multiple sclerosis (MS) preselected for a specific clinical phenotype including severe spinal cord, optic nerve, and brainstem involvement. Methods: Antibodies to MOG were investigated using a cell-based assay in 3 groups of patients: 104 preselected patients with MS (group 1), 55 age- and sex-matched, otherwise unselected patients with MS (group 2), and in 22 brain-biopsied patients with demyelinating diseases of the CNS (n = 19 with MS), 4 of whom classified as MS type II (group 3). Recognized epitopes were identified with mutated variants of MOG. Results: Antibodies to MOG were found in about 5% (5/104) of preselected adult patients with MS. In contrast, in groups 2 and 3, none of the patients tested positive for MOG antibodies. Patients with MS with antibodies to MOG predominantly manifested with concomitant severe brainstem and spinal cord involvement and had a severe disease course with high relapse rates and failure to several disease-modifying therapies. Three of them had been treated with plasma exchange with a favorable response. All anti-MOG–positive patients with MS showed typical MS lesions on brain MRI. Longitudinal analysis up to 9 years revealed fluctuations and reappearance of anti-MOG reactivity. Epitope mapping indicated interindividual heterogeneity, yet intraindividual stability of the antibody response. Conclusions: Antibodies to MOG can be found in a distinct subgroup of adult MS with a specific clinical phenotype and may indicate disease heterogeneity. PMID:27458601

  6. Wechsler Adult Intelligence Scale-Fourth Edition performance in relapsing-remitting multiple sclerosis.

    PubMed

    Ryan, Joseph J; Gontkovsky, Samuel T; Kreiner, David S; Tree, Heather A

    2012-01-01

    Forty patients with relapsing-remitting multiple sclerosis (MS) completed the 10 core Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) subtests. Means for age and education were 42.05 years (SD = 9.94) and 14.33 years (SD = 2.40). For all participants, the native language was English. The mean duration of MS diagnosis was 8.17 years (SD = 7.75), and the mean Expanded Disability Status Scale (EDSS; Kurtzke, 1983 ) score was 3.73 (SD = 1.41) with a range from 2.0 to 6.5. A control group of healthy individuals with similar demographic characteristics also completed the WAIS-IV and were provided by the test publisher. Compared to controls, patients with MS earned significantly lower subtest and composite scores. The patients' mean scores were consistently in the low-average to average range, and the patterns of performance across groups did not differ significantly, although there was a trend towards higher scores on the Verbal Comprehension Index (VCI) and lower scores on the Processing Speed Index (PSI). Approximately 78% of patients had actual Full Scale IQs that were significantly lower than preillness, demographically based IQ estimates.

  7. Treating Nodular Lymphocyte Predominant Hodgkin Disease (NLPHD)

    MedlinePlus

    ... for Hodgkin Disease Treating Classic Hodgkin Disease, by Stage Treating Nodular Lymphocyte Predominant Hodgkin Disease (NLPHD) Treating Hodgkin Disease in Children Hodgkin Disease in Pregnancy Hodgkin Disease Treating Hodgkin Disease Treating Nodular Lymphocyte ...

  8. The Impact of Gait Disability on the Calibration of Accelerometer Output in Adults with Multiple Sclerosis

    PubMed Central

    Weikert, Madeline; Dlugonski, Deirdre; Suh, Yoojin; Fernhall, Bo

    2011-01-01

    Accelerometer activity counts have been correlated with energy expenditure during treadmill walking among ambulatory adults with multiple sclerosis (MS). This study examined the effects of gait disability on 1) the association between rates of energy expenditure and accelerometer output in overground walking and 2) the calibration of accelerometer output for quantifying time spent in moderate-to-vigorous physical activity (MVPA) in people with MS. The sample consisted of 24 individuals with MS, of whom 10 reported gait disability based on Patient-Determined Disease Steps (PDDS) scores. The participants undertook three 6-minute periods of overground walking while wearing an accelerometer and a portable metabolic unit (K4b2, Cosmed, Rome, Italy). In the first period of walking, the participants walked at a self-selected, comfortable speed. In the two subsequent walking periods, participants walked at speeds above and below (±0.5 mph) the comfortable walking speed, respectively. Strong linear relationships were observed between rates of accelerometer activity counts and energy expenditure during walking in the overall sample (R2 = 0.90) and subsamples with (R2 = 0.88) and without gait disability (R2 = 0.91). The slope of the relationship was significantly steeper in the subsample with gait disability (β= 0.0049) than in the subsample without gait disability (β= 0.0026). The difference in slopes resulted in a significantly lower cut-point for MVPA (1886 vs. 2717 counts/min) in those with gait disability. These findings provide a metabolic cut-point for quantifying time spent in MVPA in people with MS, both with and without gait disability. PMID:24453722

  9. [Regenerative nodular hyperplasia in HIV].

    PubMed

    González, Ramiro Javier Romo; Chaves, Emiliano; Mullen, Eduardo; Copello, Hercilia

    2011-12-01

    Nodular regenerative hyperplasia of the liver is a rare condition. We describe here the case of a patient with HIV who presented with a clinical syndrome of portal hypertension. After multiple evaluations the diagnosis was recognized by the histology. The findings were attributed to the prolonged use of didanosine.

  10. Social Cognitive Correlates of Physical Activity in Inactive Adults with Multiple Sclerosis

    ERIC Educational Resources Information Center

    Dlugonski, Deirdre; Wojcicki, Thomas R.; McAuley, Edward; Motl, Robert W.

    2011-01-01

    Persons with multiple sclerosis (MS) are often physically inactive. This observation has prompted the search for modifiable constructs derived from established theories that act as correlates of physical activity. This study investigated self efficacy, outcome expectations, impediments, and goal setting as correlates of physical activity in…

  11. Nodular lesions and mesangiolysis in diabetic nephropathy.

    PubMed

    Wada, Takashi; Shimizu, Miho; Yokoyama, Hitoshi; Iwata, Yasunori; Sakai, Yoshio; Kaneko, Shuichi; Furuichi, Kengo

    2013-02-01

    Diabetic nephropathy is a leading cause of end-stage renal failure all over the world. Advanced human diabetic nephropathy is characterized by the presence of specific lesions including nodular lesions, doughnut lesions, and exudative lesions. Thus far, animal models precisely mimicking advanced human diabetic nephropathy, especially nodular lesions, remain to be fully established. Animal models with spontaneous diabetic kidney diseases or with inducible kidney lesions may be useful for investigating the pathogenesis of diabetic nephropathy. Based on pathological features, we previously reported that diabetic glomerular nodular-like lesions were formed during the reconstruction process of mesangiolysis. Recently, we established nodular-like lesions resembling those seen in advanced human diabetic nephropathy through vascular endothelial injury and mesangiolysis by administration of monocrotaline. Here, in this review, we discuss diabetic nodular lesions and its animal models resembling human diabetic kidney lesions, with our hypothesis that endothelial cell injury and mesangiolysis might be required for nodular lesions.

  12. Prevalence of Pulmonary Arterial Hypertension in Korean Adult Patients with Systemic Sclerosis: Result of a Pilot Echocardiographic Screening Study

    PubMed Central

    Yoo, Su-Jin; Park, Yunseon; Lee, Jae-Hwan; Sun, Byung-Joo; Kim, Jinhyun; Yoo, In Seol; Shim, Seung Cheol

    2016-01-01

    Background Pulmonary arterial hypertension (PAH) is a major cause of morbidity and mortality among patients with systemic sclerosis (SSc). Early detection and prompt treatment of PAH associated with SSc (SSc-PAH) result in better prognosis. We conducted echocardiographic study to presume the prevalence of PAH in Korean adult SSc patients and to diagnose SSc-PAH in their early stages with right heart catheterization (RHC). Methods We performed free of charge echocardiographic study including 37 adult SSc patients at the Chungnam National University Hospital. The possibility of PAH is determined by the estimation of pulmonary arterial pressure by peak tricuspid regurgitation velocity of > 3.0 m/s. Patients with possible PAH were recommended to undergo RHC to confirm the diagnosis. Results In 37 patients, 8 patients were suspected with PAH. Among them, 6 patients agreed to be examined with RHC, and 4 were confirmed with PAH. The prevalence of possible PAH was 21.6% (8 of 37 patients), and that of confirmed PAH was 10.8% (4 of 37 patients). Four patients who were confirmed with SSc-PAH through RHC have been treated with specific pulmonary vasodilators and maintained stable. Conclusion Eight patients (21.6%) were possible PAH and 4 (10.8%) were diagnosed as SSc-PAH by RHC after the echocardiographic screening study of 37 adult SSc patients. PMID:28090259

  13. Mental toughness, sleep disturbances, and physical activity in patients with multiple sclerosis compared to healthy adolescents and young adults

    PubMed Central

    Sadeghi Bahmani, Dena; Gerber, Markus; Kalak, Nadeem; Lemola, Sakari; Clough, Peter J; Calabrese, Pasquale; Shaygannejad, Vahid; Pühse, Uwe; Holsboer-Trachsler, Edith; Brand, Serge

    2016-01-01

    Background Multiple sclerosis (MS) is the most common chronic autoimmune demyelinating and inflammatory disease of the central nervous system, afflicting both the body and mind. The risk of suffering from MS is 2.5–3.5 times greater in females than in males. While there is extant research on fatigue, depression, and cognitive impairment in patients with MS during its clinical course, there is a lack of research focusing on sleep, psychological functioning, and physical activity (PA) at the point of disease onset. The aims of the present study were therefore, to assess the markers of mental toughness (MT) as a dimension of psychological functioning, sleep disturbances (SD), and PA among patients at the moment of disease onset and to compare these with the corresponding values for healthy adolescents and young adults. Methods A total of 23 patients with MS at disease onset (mean age =32.31 years; 91% females), 23 healthy adolescents (mean age =17.43 years; 82% females), and 25 healthy young adults (mean age =20.72 years; 80% females) took part in the study. They completed questionnaires covering sociodemographic data, MT, SD, and PA. Results Patients with MS had similar scores for MT traits as those in healthy adolescents and healthy young adults, and equivalent levels of moderate-intensity PA and SD as young adults. MS patients reported lower levels of vigorous PA compared to both healthy adolescents and young adults. Conclusion The pattern of the results of the present study suggests that the onset of MS is not associated with poor MT, poor sleep, or reduced moderate-intensity PA. Lower levels of vigorous PA were observed in MS patients. Low levels of vigorous PA may lead to decreased cardiorespiratory fitness in patients with MS and, in the long run, to reduced cardiovascular health and degraded psychological functioning. PMID:27390520

  14. Accelerometry and Its Association With Objective Markers of Walking Limitations in Ambulatory Adults With Multiple Sclerosis

    PubMed Central

    Motl, Robert W.; Dlugonski, Deirdre; Suh, Yoojin; Weikert, Madeline; Fernhall, Bo; Goldman, Myla

    2011-01-01

    Objective To validate accelerometry based on its correlations with 6-minute walk distance (6MWD) and oxygen cost of walking as objective markers of walking limitations in multiple sclerosis (MS). Design Cross-sectional. Setting Laboratory and general community. Participants Ambulatory participants with MS (N=26) who resided in the local community. Interventions Not applicable. Main Outcome Measures Patient Determined Disease Steps (PDDS) scale and Multiple Sclerosis Walking Scale-12 (MSWS-12); 6-minute walk test while wearing a portable metabolic unit for measuring the 6MWD and oxygen cost of walking; accelerometer during the waking hours of a 7-day period. Results The average of total daily movement counts from the accelerometer correlated significantly and strongly with MSWS-12 scores (ρ−.681, P=.001), PDDS scores (ρ−.609, P=.001), 6MWD (ρ.519, P=.003), and oxygen cost of walking (ρ−.541, P=.002). Conclusions We provide evidence that further supports the validity of accelerometry as a measure of walking limitations in ambulatory persons with MS. PMID:21112438

  15. Intrathecal antibody production against Epstein-Barr and other neurotropic viruses in pediatric and adult onset multiple sclerosis.

    PubMed

    Pohl, Daniela; Rostasy, Kevin; Jacobi, Christian; Lange, Peter; Nau, Roland; Krone, Bernd; Hanefeld, Folker

    2010-02-01

    Epstein-Barr virus (EBV) has been implicated in the pathogenesis of multiple sclerosis (MS). Recent reports proposed an increased EBV-targeted humoral immune response in MS, which appears to be more pronounced in pediatric patients. However, little is known about the CNS-derived antibody production against EBV in patients with MS. The objective of this study was to assess the frequency and intensity of intrathecal antibody production against EBV as compared to other neurotropic viruses in pediatric and adult onset MS. In cohorts of 43 childhood, 50 adult onset MS patients, 20 children and 12 adults with other CNS disorders, paired CSF and serum samples were studied. Frequency and intensity of intrathecal antibody production against EBV as compared to measles, rubella, varicella zoster (VZV) and herpes simplex virus (HSV) were analyzed by determination of virus-specific CSF-to-serum Antibody Indices (AI). Intrathecally synthesized EBV antibodies were detectable in 26% pediatric and 10% adult onset MS patients, compared to frequencies ranging in both groups from 10 to 60% for the other viruses. Median AIs for EBV were lower than those for all other viruses, with more than twofold higher median AI for measles, rubella and VZV. The EBV-targeted humoral immune response in the CNS is only part of the intrathecal polyspecific antibody production in MS, directed against various neurotropic viruses. Our results do not rule out the possibility that EBV is involved in the pathogenesis of MS by triggering diverse cellular immune mechanisms, but they argue against a direct pathogenic role of EBV-targeted humoral immune response within the CNS.

  16. NODULAR FORMS OF TUBAL DISEASE

    PubMed Central

    Ries, Emil

    1897-01-01

    The conclusions at which we arrive are the following: 1. Nodular enlargement of the tube can be caused by a number of different pathological conditions. 2. Clinical examination does not enable us to make a diagnosis of the pathological condition existing in an individual case of nodule of the tube. 3. The diagnosis of the nature of a tubal nodule can be made only with the microscope. 4. The conditions causing nodular enlargement of the tube are congenital or acquired, non-inflammatory or inflammatory. 5. Any one of these conditions can exist without the production of nodules. 6. The nodules can be found in all parts of the tube and—taking the peculiar anatomy of each part of the tube into account—show the same structure. 7. The enlargement can be caused by epithelial or epithelioid formations, connective or muscular tissue, by round-cell infiltrations or combinations of two or more of these. 8. The epithelial formations originate in the epithelium of a. the tubal mucous membrane (salpingitis pseudo-follicularis, adenomyoma originating in the tubal epithelium). b. the accessory tubes (intraparietal parasalpinx and hydro-parasalpinx). c. remnants of the Wolffian body (adenomyoma). 9. The epithelioid formations originate in the peritoneal endothelium (peritoneal growths under "relative heterotopy"). 10. The excess of formation of connective tissue is a consequence of inflammatory conditions of the tubal wall (salpingitis interstitialis, Zweifel). 11. The hypertrophy of the muscular tissue is a. non-inflammatory (adenomyoma). b. consequent upon inflammation—Kaltenbach's case (23). 12. The accumulations of round cells are direct evidence of inflammation: a. non-specific (salpingitis interstitialis disseminata, salpingitis abscedens); or b. specific (salpingitis tuberculosa or s. gonorrhoica). 13. The epithelioid formations can occur wherever pseudo-membranes cover organs lined with a serous coat. 14. Extra-uterine pregnancy (abdominal or tubal) produces

  17. A qualitative study of nutritional behaviors in adults with multiple sclerosis.

    PubMed

    Plow, Matthew; Finlayson, Marcia

    2012-12-01

    Few studies have explored how people living with multiple sclerosis (MS) cope with impairments and disability to participate in nutritional behaviors, such as meal preparation and grocery shopping. Thus, we conducted a qualitative study among eight individuals with MS who experienced mobility impairments. The eight individuals participated in semistructured, face-to-face interviews that focused on obtaining narratives about day-to-day dietary habits, preparing food, grocery shopping, and going to restaurants. Interviews were analyzed using an inductive category and theme development approach. Overall themes were (a) "it's a lot of work," (b) "it's not just up to me," (c) sifting through nutritional information, and (d) "why I eat what I eat." Participants frequently reported fatigue and mobility impairments as barriers to engagement in nutritional behaviors and often described family members as the "gatekeepers" for food selection and preparation (i.e., providing tangible support). Future research should explore the effectiveness of nutritional interventions that target family dynamics and create a supportive social environment to promote healthy eating habits and nutritional autonomy.

  18. Early Pathogenesis in the Adult-Onset Neurodegenerative Disease Amyotrophic Lateral Sclerosis

    PubMed Central

    van Zundert, Brigitte; Izaurieta, Pamela; Fritz, Elsa; Alvarez, Francisco J.

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is a devastating paralytic disorder caused by dysfunction and degeneration of motor neurons starting in adulthood. Most of our knowledge about the pathophysiological mechanisms of ALS comes from transgenic mice models that emulate a subgroup of familial ALS cases (FALS), with mutations in the gene encoding superoxide dismutase (SOD1). In the more than 15 years since these mice were generated, a large number of abnormal cellular mechanisms underlying motor neuron degeneration have been identified, but to date this effort has led to few improvements in therapy, and no cure. Here, we consider that this surfeit of mechanisms is best interpreted by current insights that suggest a very early initiation of pathology in motor neurons, followed by a diversity of secondary cascades and compensatory mechanisms that mask symptoms for decades, until trauma and/or aging overloads their protective function. This view thus posits that adultonset ALS is the consequence of processes initiated during early development. In fact, motor neurons in neonatal mutant SOD mice display important alterations in their intrinsic electrical properties, synaptic inputs and morphology that are accompanied by subtle behavioral abnormalities. We consider evidence that human mutant SOD1 protein in neonatal hSOD1G93A mice instigates motor neuron degeneration by increasing persistent sodium currents and excitability, in turn altering synaptic circuits that control excessive motor neuron firing and leads to excitotoxicity. We also discuss how therapies that are aimed at suppressing abnormal neuronal activity might effectively mitigate or prevent the onset of irreversible neuronal damage in adulthood. PMID:22740507

  19. Symptomatic therapy in multiple sclerosis

    PubMed Central

    Frohman, Teresa C.; Castro, Wanda; Shah, Anjali; Courtney, Ardith; Ortstadt, Jeffrey; Davis, Scott L.; Logan, Diana; Abraham, Thomas; Abraham, Jaspreet; Remington, Gina; Treadaway, Katherine; Graves, Donna; Hart, John; Stuve, Olaf; Lemack, Gary; Greenberg, Benjamin; Frohman, Elliot M.

    2011-01-01

    Multiple sclerosis is the most common disabling neurological disease of young adults. The ability to impact the quality of life of patients with multiple sclerosis should not only incorporate therapies that are disease modifying, but should also include a course of action for the global multidisciplinary management focused on quality of life and functional capabilities. PMID:21694806

  20. Vorinostat in Treating Patients With Relapsed or Refractory Advanced Hodgkin's Lymphoma

    ClinicalTrials.gov

    2014-05-07

    Adult Favorable Prognosis Hodgkin Lymphoma; Adult Lymphocyte Depletion Hodgkin Lymphoma; Adult Lymphocyte Predominant Hodgkin Lymphoma; Adult Mixed Cellularity Hodgkin Lymphoma; Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma; Adult Nodular Sclerosis Hodgkin Lymphoma; Adult Unfavorable Prognosis Hodgkin Lymphoma; Recurrent Adult Hodgkin Lymphoma

  1. Multiple Sclerosis

    MedlinePlus

    Multiple sclerosis Overview By Mayo Clinic Staff Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system). In MS, the immune system attacks the protective ...

  2. Multiple Sclerosis

    MedlinePlus

    Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the ... attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins ...

  3. Superficially located enlarged lymphoid follicles characterise nodular gastritis.

    PubMed

    Okamura, Takuma; Sakai, Yasuhiro; Hoshino, Hitomi; Iwaya, Yugo; Tanaka, Eiji; Kobayashi, Motohiro

    2015-01-01

    Nodular gastritis is a form of chronic Helicobacter pylori gastritis affecting the gastric antrum and characterised endoscopically by the presence of small nodular lesions resembling gooseflesh. It is generally accepted that hyperplasia of lymphoid follicles histologically characterises nodular gastritis; however, quantitative analysis in support of this hypothesis has not been reported. Our goal was to determine whether nodular gastritis is characterised by lymphoid follicle hyperplasia.The number, size, and location of lymphoid follicles in nodular gastritis were determined and those properties compared to samples of atrophic gastritis. The percentages of high endothelial venule (HEV)-like vessels were also evaluated.The number of lymphoid follicles was comparable between nodular and atrophic gastritis; however, follicle size in nodular gastritis was significantly greater than that seen in atrophic gastritis. Moreover, lymphoid follicles in nodular gastritis were positioned more superficially than were those in atrophic gastritis. The percentage of MECA-79 HEV-like vessels was greater in areas with gooseflesh-like lesions in nodular versus atrophic gastritis.Superficially located hyperplastic lymphoid follicles characterise nodular gastritis, and these follicles correspond to gooseflesh-like nodular lesions observed endoscopically. These observations suggest that MECA-79 HEV-like vessels could play at least a partial role in the pathogenesis of nodular gastritis.

  4. Nodular tertiary syphilis in an immunocompetent patient*

    PubMed Central

    Bittencourt, Maraya de Jesus Semblano; de Brito, Arival Cardoso; Nascimento, Bianca Angelina Macêdodo; Carvalho, Alessandra Haber; Drago, Marion Guimarães

    2016-01-01

    Acquired syphilis can be divided into primary, secondary, latent, and tertiary stages. About 25% of patients with untreated primary syphilis will develop late signs that generally occur after three to five years, with involvement of several organs. The authors present an immunocompetent female who developed a tertiary stage syphilis presenting with long-standing nodular plaques. PMID:27579755

  5. Ocrevus Approved to Treat Severe Form of Multiple Sclerosis

    MedlinePlus

    ... html Ocrevus Approved to Treat Severe Form of Multiple Sclerosis First drug sanctioned in U.S. for primary progressive ... Drug Administration to treat adults with primary progressive multiple sclerosis (PPMS) and relapsing forms of the disease, the ...

  6. Devic's neuromyelitis optica and Schilder's myelinoclastic diffuse sclerosis

    PubMed Central

    Hainfellner, J A; Schmidbauer, M; Schmutzhard, E; Maier, H; Budka, H

    1992-01-01

    An adult patient developed both Devic's neuromyelitis optica and Schilder's myelinoclastic diffuse sclerosis, suggesting that these entities represent rare topographical and aggressive variants within the spectrum of multiple sclerosis. Images PMID:1343820

  7. A Phase II Trial of Panobinostat and Lenalidomide in Patients With Relapsed or Refractory Hodgkin's Lymphoma

    ClinicalTrials.gov

    2017-01-24

    Adult Lymphocyte Depletion Hodgkin Lymphoma; Adult Lymphocyte Predominant Hodgkin Lymphoma; Adult Mixed Cellularity Hodgkin Lymphoma; Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma; Adult Nodular Sclerosis Hodgkin Lymphoma; Recurrent Adult Hodgkin Lymphoma

  8. Gemcitabine and Bendamustine in Patients With Relapsed or Refractory Hodgkin's Lymphoma

    ClinicalTrials.gov

    2017-02-24

    Adult Lymphocyte Depletion Hodgkin Lymphoma; Adult Lymphocyte Predominant Hodgkin Lymphoma; Adult Mixed Cellularity Hodgkin Lymphoma; Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma; Adult Nodular Sclerosis Hodgkin Lymphoma; Recurrent Adult Hodgkin Lymphoma

  9. SGN-30 and Combination Chemotherapy in Treating Patients With Relapsed or Refractory Hodgkin Lymphoma

    ClinicalTrials.gov

    2015-02-10

    Adult Lymphocyte Depletion Hodgkin Lymphoma; Adult Lymphocyte Predominant Hodgkin Lymphoma; Adult Mixed Cellularity Hodgkin Lymphoma; Adult Nodular Sclerosis Hodgkin Lymphoma; Recurrent Adult Hodgkin Lymphoma

  10. Nodular lymphocyte-predominant Hodgkin lymphoma.

    PubMed

    Savage, Kerry J; Mottok, Anja; Fanale, Michelle

    2016-07-01

    Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma with distinct clinicopathologic features. It is typified by the presence of lymphocyte predominant (LP) cells, which are CD20(+) but CD15(-) and CD30(-) and are found scattered amongst small B lymphocytes arranged in a nodular pattern. Despite frequent and often late or multiple relapses, the prognosis of NLPHL is very favorable. There is an inherent risk of secondary aggressive non-Hodgkin lymphoma (NHL) and studies support that risk is highest in those with splenic involvement at presentation. Given disease rarity, the optimal management is unclear and opinions differ as to whether treatment paradigms should be similar to or differ from those for classical Hodgkin lymphoma (CHL). This review provides an overview of the existing literature describing pathological subtypes, outcome and treatment approaches for NLPHL.

  11. Influence of iodization programmes on the epidemiology of nodular goitre.

    PubMed

    Fiore, Emilio; Tonacchera, Massimo; Vitti, Paolo

    2014-08-01

    Iodine is essential for the synthesis of thyroid hormones. Iodine deficiency can affect human health in different ways, and is commonly referred to as iodine deficiency disorders (IDD). These range from defective development of the central nervous system during the fetal-neonatal life, to goitre in the adult. Only a few countries were completely iodine sufficient before 1990. Since then, a major effort has been made to introduce salt iodization to ensure sufficient intake of iodine in deficient areas. Iodine prophylaxis has been shown to exert a pivotal role in abating goitre and other iodine-deficiency disorders, and has also been shown to modulate the pattern of thyroid diseases. An increased frequency of thyroid autoimmunity and of hypothyroidism has been observed after introducing iodization programmes. Nevertheless, available evidence clearly confirms that the benefits of correcting iodine deficiency, consisting mainly of reducing nodular goitre and non-autoimmune hyperthyroidism, far outweigh the risks of iodine supplementation.

  12. Nodular panniculitis in a female toy poodle.

    PubMed

    Post, K

    1983-05-01

    A four month old female toy Poodle showing multiple nodules 2 to 3 cm in diameter, some of which had ruptured over the neck and trunk area, was diagnosed as having nodular panniculitis. The animal had been treated with a course of chloramphenicol and ampicillin for one month with no response. The diagnosis was based on history, clinical signs, laboratory data and dramatic response to the addition of corticosteroid to the antibiotic therapy.

  13. Directional Solidification of Nodular Cast Iron

    NASA Technical Reports Server (NTRS)

    Curreri, P. A.; Stefanescu, D. M.; Hendrix, J. C.

    1987-01-01

    Cerium enhances formation of graphite nodules. Preliminary experiments in directional solidification of cast iron shows quantitative correlation of graphite microstructure with growth rate and thermal gradient, with sufficient spheroidizing element to form spheroidal graphite under proper thermal conditions. Experimental approach enables use of directional solidification to study solidification of spheriodal-graphite cast iron in low gravity. Possible to form new structural materials from nodular cast iron.

  14. Unusual Presentation of Multibacillary Nodular Leprosy

    PubMed Central

    Raut, Shweta; Kanade, Swapna; Nataraj, Gita; Mehta, Preeti

    2017-01-01

    Despite India achieving the goal of elimination of leprosy as a public health problem, leprosy is still being transmitted in India. However, due to decreased clinical suspicion of leprosy and atypical case presentations, such cases may be not be diagnosed. We present a case report of an unusual presentation of multibacillary leprosy which presented as nodular lesions. This case report indicates that atypical presentations of leprosy may be missed out by primary care physicians. PMID:28042219

  15. Thyroid peroxidase activity in human nodular goiters.

    PubMed

    Moura, E G; Rosenthal, D; Carvalho-Guimarães, D P

    1989-01-01

    1. Thyroid peroxidase (TPO, iodide-oxidation) activity was evaluated in nodular and paranodular tissue samples from 27 patients with nodular goiter (19 "cold" and 8 "hot" nodules), and compared to 11 diffuse toxic goiter and 9 normal thyroid tissue samples. 2. In terms of U/g digitonin solubilized protein, TPO activity was increased in hot nodules (P less than 0.05), although not as much as in diffuse toxic goiters (P less than 0.01). 3. The mean TPO activity of tissues paranodular to a cold nodule was not different from that of normal thyroids. 4. Both the highest and the lowest TPO activities were found in cold nodules, but their mean value did not differ from those of their paranodular tissues or normal thyroids. 5. Inter-tissue variability was significantly increased (P less than 0.01) in cold nodules and in tissues paranodular to a hot nodule. 6. These data show that heterogeneity both within and among tissues contributes to the wide range of TPO activity detected in nodular goiters.

  16. Nodular lymphocyte predominant Hodgkin lymphoma: a Lymphoma Study Association retrospective study

    PubMed Central

    Lazarovici, Julien; Dartigues, Peggy; Brice, Pauline; Obéric, Lucie; Gaillard, Isabelle; Hunault-Berger, Mathilde; Broussais-Guillaumot, Florence; Gyan, Emmanuel; Bologna, Serge; Nicolas-Virelizier, Emmanuelle; Touati, Mohamed; Casasnovas, Olivier; Delarue, Richard; Orsini-Piocelle, Frédérique; Stamatoullas, Aspasia; Gabarre, Jean; Fornecker, Luc-Matthieu; Gastinne, Thomas; Peyrade, Fréderic; Roland, Virginie; Bachy, Emmanuel; André, Marc; Mounier, Nicolas; Fermé, Christophe

    2015-01-01

    Nodular lymphocyte predominant Hodgkin lymphoma represents a distinct entity from classical Hodgkin lymphoma. We conducted a retrospective study to investigate the management of patients with nodular lymphocyte predominant Hodgkin lymphoma. Clinical characteristics, treatment and outcome of adult patients with nodular lymphocyte predominant Hodgkin lymphoma were collected in Lymphoma Study Association centers. Progression-free survival (PFS) and overall survival (OS) were analyzed, and the competing risks formulation of a Cox regression model was used to control the effect of risk factors on relapse or death as competing events. Among 314 evaluable patients, 82.5% had early stage nodular lymphocyte predominant Hodgkin lymphoma. Initial management consisted in watchful waiting (36.3%), radiotherapy (20.1%), rituximab (8.9%), chemotherapy or immuno-chemotherapy (21.7%), combined modality treatment (12.7%), or radiotherapy plus rituximab (0.3%). With a median follow-up of 55.8 months, the 10-year PFS and OS estimates were 44.2% and 94.9%, respectively. The 4-year PFS estimates were 79.6% after radiotherapy, 77.0% after rituximab alone, 78.8% after chemotherapy or immuno-chemotherapy, and 93.9% after combined modality treatment. For the whole population, early treatment with chemotherapy or radiotherapy, but not rituximab alone (Hazard ratio 0.695 [0.320–1.512], P=0.3593) significantly reduced the risk of progression compared to watchful waiting (HR 0.388 [0.234–0.643], P=0.0002). Early treatment appears more beneficial compared to watchful waiting in terms of progression-free survival, but has no impact on overall survival. Radiotherapy in selected early stage nodular lymphocyte predominant Hodgkin lymphoma, and combined modality treatment, chemotherapy or immuno-chemotherapy for other patients, are the main options to treat adult patients with a curative intent. PMID:26430172

  17. Nodular lymphocyte predominant Hodgkin lymphoma: a Lymphoma Study Association retrospective study.

    PubMed

    Lazarovici, Julien; Dartigues, Peggy; Brice, Pauline; Obéric, Lucie; Gaillard, Isabelle; Hunault-Berger, Mathilde; Broussais-Guillaumot, Florence; Gyan, Emmanuel; Bologna, Serge; Nicolas-Virelizier, Emmanuelle; Touati, Mohamed; Casasnovas, Olivier; Delarue, Richard; Orsini-Piocelle, Frédérique; Stamatoullas, Aspasia; Gabarre, Jean; Fornecker, Luc-Matthieu; Gastinne, Thomas; Peyrade, Fréderic; Roland, Virginie; Bachy, Emmanuel; André, Marc; Mounier, Nicolas; Fermé, Christophe

    2015-12-01

    Nodular lymphocyte predominant Hodgkin lymphoma represents a distinct entity from classical Hodgkin lymphoma. We conducted a retrospective study to investigate the management of patients with nodular lymphocyte predominant Hodgkin lymphoma. Clinical characteristics, treatment and outcome of adult patients with nodular lymphocyte predominant Hodgkin lymphoma were collected in Lymphoma Study Association centers. Progression-free survival (PFS) and overall survival (OS) were analyzed, and the competing risks formulation of a Cox regression model was used to control the effect of risk factors on relapse or death as competing events. Among 314 evaluable patients, 82.5% had early stage nodular lymphocyte predominant Hodgkin lymphoma. Initial management consisted in watchful waiting (36.3%), radiotherapy (20.1%), rituximab (8.9%), chemotherapy or immuno-chemotherapy (21.7%), combined modality treatment (12.7%), or radiotherapy plus rituximab (0.3%). With a median follow-up of 55.8 months, the 10-year PFS and OS estimates were 44.2% and 94.9%, respectively. The 4-year PFS estimates were 79.6% after radiotherapy, 77.0% after rituximab alone, 78.8% after chemotherapy or immuno-chemotherapy, and 93.9% after combined modality treatment. For the whole population, early treatment with chemotherapy or radiotherapy, but not rituximab alone (Hazard ratio 0.695 [0.320-1.512], P=0.3593) significantly reduced the risk of progression compared to watchful waiting (HR 0.388 [0.234-0.643], P=0.0002). Early treatment appears more beneficial compared to watchful waiting in terms of progression-free survival, but has no impact on overall survival. Radiotherapy in selected early stage nodular lymphocyte predominant Hodgkin lymphoma, and combined modality treatment, chemotherapy or immuno-chemotherapy for other patients, are the main options to treat adult patients with a curative intent.

  18. Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia.

    PubMed

    Ozawa, Hiroshi; Osawa, Maki; Nagai, Toshiro; Sakura, Nobuo

    2006-03-01

    This report presents a case of steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. A 13-year-old male was diagnosed as having steroid sulfatase deficiency because steroid sulfatase activity was not detected in his leukocytes. In deoxyribonucleic acid studies, steroid sulfatase locus and adjacent loci were found to be deleted in his deoxyribonucleic acid. Cranial magnetic resonance imaging revealed periventricular nodular heterotopia, disclosing an irregular contour of the lateral walls of the lateral ventricles due to small nodular masses that were isointense as to the gray matter. In steroid sulfatase deficiency patients, bilateral periventricular nodular heterotopia must be considered.

  19. Multiple sclerosis - resources

    MedlinePlus

    Resources - multiple sclerosis ... The following organizations provide information on multiple sclerosis : Multiple Sclerosis Foundation -- www.msfocus.org National Institute of Neurological Disorders and Stroke -- www.ninds.nih.gov/disorders/multiple_sclerosis National ...

  20. Tuberous Sclerosis

    MedlinePlus

    ... or other symptoms can be life-threatening. Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to ...

  1. Bilateral periventricular nodular heterotopia with megalencephaly: a case report.

    PubMed

    Abe, Yu; Kobayashi, Satoru; Wakusawa, Keisuke; Tanaka, Soichiro; Inui, Takehiko; Yamamoto, Toshiyuki; Kunishima, Shinji; Haginoya, Kazuhiro

    2014-06-01

    Bilateral periventricular nodular heterotopia is a neuronal migration disorder characterized by gray matter cellular rests in the periventricular regions. Megalencephaly has not been reported in children with bilateral periventricular nodular heterotopia. No other disorder with a similar phenotype has been reported. Here we report the case of a 5-year-old Japanese boy with bilateral periventricular nodular heterotopia and megalencephaly. Relative macrocephaly was evident at birth, and bilateral periventricular nodular heterotopia and megalencephaly were noted on magnetic resonance imaging (MRI). However, no hydrocephalus or indication of cerebral cortical dysplasia was seen. A mild intellectual disability was present, but the patient had no history of seizures. Genetic analysis revealed no mutation on the capillary sequences for FLNA, and no pathogenic abnormalities were evident on array comparative genomic hybridization. This case could represent a new disease entity: bilateral periventricular nodular heterotopia with megalencephaly.

  2. [Hepatocellular nodular hyperplasias, adenomas and carcinomas].

    PubMed

    Altmann, H W

    1995-01-01

    Nodular hyperplasias ("hyperplasiomas") are new formations whose development as a required and regulated response can be traced either to compensatory reactions to the loss of cells (regeneration in a narrow sense) and to decreased cellular performance, or to primary growth impulses. Included in this group are: the "macroregenerative nodules" after extensive cell losses; solitary nodules of uncertain etiology; and the minute foci of "micronodular transformation" whose origin can be traced to a particular disturbance of the hepatic blood supply. The so-called "adenomatous hyperplasias" of the cirrhotic liver that have a tendency towards carcinomatous change are not included in this group and are perhaps better considered as "hyperplasiogenic adenomas". The so-called "focal nodular hyperplasia" too, it must be stressed, should be separated from the simple hyperplasias, for it is more closely related to the adenomas, but represents a new formation of limited growth potential. Morphologically it is conspicuously subdivided by multiple connective tissue bands and scars, but it is above all characterized by metaplastically derived neoductuli, and hence it is appropriately designated as a "combined nodule". Among the true uninodular adenomas there are several variants differing in their morphology,--the so-called "atypical" or "intermediate" forms, that can give rise to carcinomas. The hepatocellular carcinoma, that may arise in a variety of ways, presents multiple cytological and histological variants, but only the so-called "fibrolamellar carcinoma" presents also a clinical peculiarity. "Hepatoblastomas" differ from the common hepatocellular carcinomas by their origin in early childhood from immature early precursor cells and, in the later phases of life, from redifferentiated cells that can even give rise to mesenchymal elements. There is no evidence of the existence of particular pluripotential stem cells.

  3. Multiple sclerosis and pregnancy.

    PubMed

    Popescu, C D

    2014-01-01

    Multiple sclerosis is one of the main reasons for invalidation of young adults of both sexes. The disease is more common in women than in men. The illness begins most frequently in patients between the ages of 20 and 40 years, which is also the most fertile period for women. MS is an immune-mediated disease with chronic evolution marked by exacerbations and remissions that amplify the degree of disability. The most common clinical picture is the one with relapse and remission whose evolution is greatly improved after immunomodulatory treatment. We have revised the literature together with the data from the national multiple sclerosis society and the cases that are in the National Programme of Multiple Sclerosis, mainly the ones that are assigned to the regional center of Iaşi, at the Neurology Clinic inside the Clinical Rehabilitation Hospital Iaşi. Pregnancy is quite frequent in female patients with MS. Certain risks are present during pregnancy, birth and breastfeeding and certain protocols must be applied, such as interrupting the immunomodulatory treatment before the conception. Child delivery must be closely monitored and it must take into consideration the dysfunction that the patient has and be adapted to the existing deficits. There are some methods that may be used during delivery for female patients with multiple sclerosis in order to make this process smooth and reduce the risk of postpartum complications. Multiple sclerosis is an invalidating disease, with a high prevalence in women. Pregnancy in patients with MS is not such a natural phenomenon as in a healthy female and it requires a multidisciplinary team in order to ensure the safety of both the mother and the newborn.

  4. Echocardiography and genetic counselling in tuberous sclerosis.

    PubMed Central

    Webb, D W; Thomas, R D; Osborne, J P

    1992-01-01

    OBJECTIVE--To assess echocardiography as an investigation for the detection of occult gene carriers in tuberous sclerosis. PATIENTS--Sixty parents of children with tuberous sclerosis who had been extensively investigated for signs of the disease and 60 age and sex matched controls. PROCEDURE--Blind study by two experienced echocardiographers and blind interpretation of video recordings by an adult cardiologist. SETTING--Cardiology department of a district general hospital. RESULTS--Two parents and three controls had bright echodense areas interpreted as possible rhabdomyomas. CONCLUSIONS--In our hands echocardiography of adults is not an investigation with a high specificity for gene detection in tuberous sclerosis. Images PMID:1640428

  5. Expression of Wnt5a and its receptor Fzd2 is changed in the spinal cord of adult amyotrophic lateral sclerosis transgenic mice

    PubMed Central

    Li, Xiaojin; Guan, Yingjun; Chen, Yanchun; Zhang, Caixia; Shi, Caixing; Zhou, Fenghua; Yu, Li; Juan, Juan; Wang, Xin

    2013-01-01

    Wnt5a, a member of the Wnt gene family, encodes a cysteine-rich growth factor involved in signal transduction during growth and differentiation. The Fzd2 gene codes for a cell membrane receptor called Frizzled-2 have a structure similar to G protein coupled receptors. The extracellular N-terminal of the Fzd2 receptor has a cysteine-rich domain (CRD) that binds Wnt ligands and thus primes the Wnt signal pathway. Downregulation of the Wnt signal pathway occurs in neurodegenerative diseases including Amyotrophic Lateral Sclerosis (ALS). However, little is known about Wnt5a/Fzd2 signaling in mammalian nerve cells, and it is not clear whether Wnt5a or Fzd2 functioning are changed in ALS. The influence of Wnt5a and Fzd2 signal transduction pathway on ALS was investigated in adult SOD1G93A transgenic mice. Changes in Wnt5a and Fzd2 expression in the spinal cord of SOD1G93A transgenic mice (ALS), SOD1G93A transfected NSC-34 cells, and primary cultures of astrocytes from SOD1G93A transgenic mice were detected by immunofluorescent staining, Reverse Transcription-Polymerase Chain Reaction (RT-PCR) and Western blotting. The results provide further insight into the role of Wnt5a and Fzd2 in the pathogenesis of ALS transgenic mice, which provides evidence that should help in the search for treatments of ALS. PMID:23826406

  6. Prevalence of simple nodular goiter and Hashimoto's thyroiditis in current, previous, and never smokers in a geographical area with mild iodine deficiency.

    PubMed

    Rendina, D; De Palma, D; De Filippo, G; De Pascale, F; Muscariello, R; Ippolito, R; Fazio, V; Fiengo, A; Benvenuto, D; Strazzullo, P; Galletti, F

    2015-03-01

    Simple nodular goiter and Hashimoto's thyroiditis are 2 frequent nonmalignant thyroid diseases. Tobacco smoking has detrimental effects on the endocrine system and in particular on thyroid function and morphology. The objective of this cross-sectional study, involving 1800 Caucasian adults from a geographical area with mild iodine deficiency, was to evaluate the relationship between tobacco smoking, smoking cessation, and the prevalence of simple nodular goiter and Hashimoto's thyroiditis. Thyroid status was evaluated by ultrasonic exploration of the neck, measurement of FT3, FT4, TSH, antibodies against thyroid peroxidase and thyroglobulin, and urinary iodine excretion. The fine-needle aspiration biopsy of significant nodules was also performed. Smoking habits were evaluated by a specific questionnaire and the calculation of number of pack years. Both current and previous smokers showed an increased risk of simple nodular goiter compared to never smokers after adjustment for potential confounders and known goitrogen factors. Interestingly, the simple nodular goiter risk was similar for never smokers and for previous smokers declaring a time since cessation of smoking for more than 69 months. Smoking habit was not associated to an increased risk of Hashimoto's thyroiditis.Smoking appears to be an independent risk factor for simple nodular goiter but not for Hashimoto's thyroiditis in an area with mild iodine deficiency. A prolonged withdrawal of smoking dramatically reduces the risk of simple nodular goiter occurrence.

  7. Improving physical functional and quality of life in older adults with multiple sclerosis via a DVD-delivered exercise intervention: a study protocol

    PubMed Central

    Wójcicki, Thomas R; Roberts, Sarah A; Learmonth, Yvonne C; Hubbard, Elizabeth A; Kinnett-Hopkins, Dominque; Motl, Robert W; McAuley, Edward

    2014-01-01

    Introduction There is a need to identify innovative, low-cost and broad-reaching strategies for promoting exercise and improving physical function in older adults with multiple sclerosis (MS). Methods and analysis This randomised controlled pilot trial will test the efficacy of a 6-month, DVD-delivered exercise intervention to improve functional performance and quality of life in older adults with MS. Participants will be randomised either into a DVD-delivered exercise condition or an attentional control condition. This novel approach to programme delivery provides participants with detailed exercise instructions which are presented in a progressive manner and includes a variety of modifications to better meet varying levels of physical abilities. The targeted exercises focus on three critical elements of functional fitness: flexibility, strength and balance. It is hypothesised that participants who are randomised to the exercise DVD condition will demonstrate improvements in physical function compared with participants assigned to the attentional control condition. Data analysis will include a 2 (condition)×2 (time) mixed factor analysis of variance (ANOVA) that follows intent-to-treat principles, as well as an examination of effect sizes. Participants will take part in qualitative interviews about perspectives on physical activity and programme participation. Ethics and dissemination The study protocol was approved by a university institutional review board and registered with a federal database. Participants will be asked to read and sign a detailed informed consent document and will be required to provide a physician's approval to participate in the study. The exercise DVDs include an overview of safety-related concerns and recommendations relative to exercise participation, as well as detailed instructions highlighting the proper execution of each exercise presented on screen. Following completion of this trial, data will be immediately analysed and results

  8. Gadobutrol Versus Gadopentetate Dimeglumine or Gadobenate Dimeglumine Before DCE-MRI in Diagnosing Patients With Multiple Sclerosis, Grade II-IV Glioma, or Brain Metastases

    ClinicalTrials.gov

    2017-03-22

    Adult Anaplastic (Malignant) Meningioma; Adult Anaplastic Astrocytoma; Adult Anaplastic Ependymoma; Adult Anaplastic Oligodendroglioma; Adult Brain Stem Glioma; Adult Choroid Plexus Neoplasm; Adult Diffuse Astrocytoma; Adult Ependymoblastoma; Adult Ependymoma; Adult Giant Cell Glioblastoma; Adult Glioblastoma; Adult Gliosarcoma; Adult Grade II Meningioma; Adult Medulloblastoma; Adult Mixed Glioma; Adult Oligodendroglioma; Adult Papillary Meningioma; Adult Pineal Gland Astrocytoma; Adult Pineoblastoma; Adult Primary Melanocytic Lesion of Meninges; Adult Supratentorial Primitive Neuroectodermal Tumor; Malignant Adult Intracranial Hemangiopericytoma; Metastatic Malignant Neoplasm in the Brain; Multiple Sclerosis; Recurrent Adult Brain Neoplasm

  9. Childhood Multiple Sclerosis: A Review

    ERIC Educational Resources Information Center

    Waldman, Amy; O'Connor, Erin; Tennekoon, Gihan

    2006-01-01

    Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system (CNS) that is increasingly recognized as a disease that affects children. Similar to adult-onset MS, children present with visual and sensory complaints, as well as weakness, spasticity, and ataxia. A lumbar puncture can be helpful in diagnosing MS when…

  10. Multiple Sclerosis.

    ERIC Educational Resources Information Center

    Plummer, Nancy; Michael, Nancy, Ed.

    This module on multiple sclerosis is intended for use in inservice or continuing education programs for persons who administer medications in long-term care facilities. Instructor information, including teaching suggestions, and a listing of recommended audiovisual materials and their sources appear first. The module goal and objectives are then…

  11. Multiple Sclerosis and its Management

    PubMed Central

    Weinshenker, Brian

    1992-01-01

    Multiple sclerosis, the most common disabling disease of the central nervous system affecting young adults, is diagnosed primarily from a history of typical relapsing and remitting white matter symptoms supported by objective signs. Multiple sclerosis may present in more insidious ways or may be mimicked by other diseases, which seemingly satisfy the diagnostic criteria of dissemination in time and space. Patients need psychological support to deal with an uncertain future. A multidisciplinary team approach can best manage both acute temporary disability and, often later, progressive physical and occasionally mental disability. ImagesFigures 1-3 PMID:21221279

  12. Multiple Sclerosis: An Update.

    PubMed

    Faguy, Kathryn

    2016-05-01

    Multiple sclerosis (MS) is the most common disabling neurologic condition in young adults and imposes high financial and quality of life costs on patients, their families, and society. Yet, developments in the battle against MS include new treatments to slow its progression and updated diagnostic criteria that can accelerate diagnosis and effective treatment. This article offers a review and update on the disease, focusing on risk factors and possible causes, symptoms, forms of MS, diagnostic criteria and tools, and the expanding array of approved treatments. It also reports on the skyrocketing cost of MS drugs, misdiagnosis, and special patient populations with MS.

  13. Microstructural Characterization of Nodular Ductile Iron

    SciTech Connect

    Springer, H K

    2012-01-03

    The objective of this study is to quantify the graphite particle phase in nodular ductile iron (NDI). This study provides the basis for initializing microstructure in direct numerical simulations, as part of developing microstructure-fracture response models. The work presented here is a subset of a PhD dissertation on spall fracture in NDI. NDI is an ideal material for studying the influence of microstructure on ductile fracture because it contains a readily identifiable second-phase particle population, embedded in a ductile metallic matrix, which serves as primary void nucleation sites. Nucleated voids grow and coalesce under continued tensile loading, as part of the micromechanisms of ductile fracture, and lead to macroscopic failure. For this study, we used 2D optical microscopy and quantitative metallography relationships to characterize the volume fraction, size distribution, nearest-neighbor distance, and other higher-order metrics of the graphite particle phase. We found that the volume fraction was {Phi} = 0.115, the average particle diameter was d{sub avg} = 25.9 {mu}m, the Weibull shape and scaling parameters were {beta} = 1.8 and {eta} = 29.1 {mu}m, respectively, the (first) nearest neighbor distance was L{sub nn} = 32.4 {mu}m, the exponential coefficients for volume fraction fluctuations was A{sub {Phi}} = 1.89 and B{sub {Phi}} = -0.59, respectively. Based on reaching a coefficient-of-variation (COV) of 0.01, the representative volume element (RVE) size was determined to be 8.9L{sub nn} (288 {mu}m).

  14. Benign Nodular Goiter Causing Upper Airway Obstruction

    PubMed Central

    Başoğlu, Mahmut; Öztürk, Gürkan; Aydınlı, Bülent; Yıldırgan, M. İlhan; Atamanalp, S. Selçuk; Celebi, Fehmi

    2009-01-01

    Objective Benign nodular goiter (BNG) can cause narrowing of the upper airway. In some rare cases, obstruction of the upper airway also occurs. The following paper reports our experiences with regard to BNG patients who experienced obstruction of the upper airway. Materials and Methods. We retrospectively investigated the records of 13 patients with acute airway obstruction due to BNG who were admitted to the General Surgery Department of Ataturk University Medical School between January 2000 and December 2007. Results Thirteen patients with airway obstruction secondary to BNG were hospitalized during this period. There were two males and 11 females, and the mean age was 58.5 years (range 37–74 years). For all patients, the primary symptom upon admission was defined as respiratory distress; all patients had varying degrees of respiratory distress upon admission. Three of the patients underwent emergent endotracheal intubation in the emergency room. A preoperative radiological evaluation was performed with thyroid ultrasonography (US) and computed tomography (CT). There were retrosternal or substernal components of the BNG in nine patients. Twelve patients underwent operations, while one patient with mild respiratory distress elected not to be operated on. Ten patients underwent total thyroidectomies, while two patients underwent near-total thyroidectomies. One patient with retrosternal goiter also underwent a median sternotomy. Three patients received a tracheostomy after the operation. Suction drains were utilized in all operations. During the post-operative period, two patients suffered from voice impairment, and seven patients experienced hypocalcemia. Two patients died. Pathological examination of the thyroidectomy tissue revealed BNG in all cases. In addition, two patients had micropapillary carcinomas. Conclusion Although BNG causing upper airway obstruction is rare, it is an important clinical entity because of the need for emergent operation, the

  15. CagA antibodies in Japanese children with nodular gastritis or peptic ulcer disease.

    PubMed

    Kato, S; Sugiyama, T; Kudo, M; Ohnuma, K; Ozawa, K; Iinuma, K; Asaka, M; Blaser, M J

    2000-01-01

    cagA(+) Helicobacter pylori strains have been linked to more severe gastric inflammation, peptic ulcer disease, and gastric cancer in adults, but there have been few studies of cagA in children. We examined the relationship between H. pylori cagA status and clinical status in Japanese children. Forty H. pylori-positive children were studied: 15 with nodular gastritis, 5 with gastric ulcers, and 20 with duodenal ulcers. H. pylori status was confirmed by biopsy-based tests and serum anti-H. pylori immunoglobulin G (IgG) antibody. As controls, 77 asymptomatic children with sera positive for anti-H. pylori IgG were enrolled. Levels of IgG antibodies to CagA in serum were measured by an antigen-specific enzyme-linked immunosorbent assay. In 16 patients with successful H. pylori eradication, posttreatment levels of CagA and H. pylori IgG antibodies also were studied. The CagA antibody seropositivities of asymptomatic controls (81.8%) and patients with nodular gastritis, gastric ulcers, and duodenal ulcers (80.0 to 95.0%) were not significantly different. Compared with pretreatment levels of CagA antibodies, posttreatment levels decreased progressively and significantly. We conclude that, as in Japanese adults, a high prevalence of cagA(+) H. pylori strains was found in Japanese children, and that there was no association with nodular gastritis or peptic ulcer disease. In the assessment of eradicative therapies, monitoring of serum anti-CagA antibodies does not appear to offer any direct benefit over monitoring of anti-H. pylori antibodies.

  16. Disease Modifying Therapy in Multiple Sclerosis

    PubMed Central

    Williams, U. E.; Oparah, S. K.; Philip-Ephraim, E. E.

    2014-01-01

    Multiple sclerosis is an autoimmune disease of the central nervous system characterized by inflammatory demyelination and axonal degeneration. It is the commonest cause of permanent disability in young adults. Environmental and genetic factors have been suggested in its etiology. Currently available disease modifying drugs are only effective in controlling inflammation but not prevention of neurodegeneration or accumulation of disability. Search for an effective neuroprotective therapy is at the forefront of multiple sclerosis research. PMID:27355035

  17. Mechanical Characterization of Nodular Ductile Iron

    SciTech Connect

    Springer, H K

    2012-01-03

    The objective of this study is to characterize the strength and fracture response of nodular ductile iron (NDI) and its underlying ferritic matrix phase. Quasistatic and split Hopkinson pressure bar (SHPB) compression tests were performed on NDI and a model material for the NDI matrix phase (Fe-Si alloy). Smooth and notch round bar (NRB) samples were loaded in tension until fracture to determine strain-at-failure with varying stress triaxiality. Multiple tests were performed on each small and large smooth bar samples to obtain fracture statistics with sample size. Fracture statistics are important for initializing simulations of fragmentation events. Johnson-Cook strength models were developed for the NDI and the Fe-Si alloy. NDI strength model parameters are: A = 525 MPa, B = 650 MPa, n = 0.6, and C = 0.0205. The average SHPB experimental strain-rate of 2312/s was used for the reference strain-rate in this model. Fe-Si alloy strength model parameters are: A=560 MPa, B = 625 MPa, n = 0.5, and C = 0.02. The average SHPB experimental strain-rate of 2850/s was used for the reference strain-rate in this model. A Johnson-Cook failure model was developed for NDI with model parameters: D{sub 1} = 0.029, D{sub 2} = 0.44, D{sub 3} = -1.5, and D{sub 4} = D{sub 5} = 0. An exponential relationship was developed for the elongation-at-failure statistics as a function of length-scale with model parameters: S{sub f1} = 0.108, S{sub f2} = -0.00169, and L{sub m} = 32.4 {mu}m. NDI strength and failure models, including failure statistics, will be used in continuum-scale simulations of explosively-driven ring fragmentation. The Fe-Si alloy strength model will be used in mesoscale simulations of spall fracture in NDI, where the NDI matrix phase is captured explicitly.

  18. Multiple sclerosis.

    PubMed

    Files, Daniel Kane; Jausurawong, Tani; Katrajian, Ruba; Danoff, Robert

    2015-06-01

    Multiple sclerosis (MS) is a chronic, debilitating disease that can have devastating effects. Presentation varies widely in symptoms, pace, and progression. In addition to a thorough history and physical examination, diagnostic tools required to diagnose MS and exclude other diagnoses include MRI, evoked potential testing, and cerebrospinal fluid analysis. Although the disease is not curable presently, quality of life can be improved by minimizing the frequency and severity of disease burden. Disease modification, symptom management, preservation of function, and treatment of psychosocial issues are paramount to enhance the quality of life for the patient affected with MS.

  19. Invasive Ocular Surface Squamous Neoplasia Masquerading as Nodular Scleritis.

    PubMed

    Sharma, Medha; Sundar, Dheepak; Vanathi, Murugesan; Meel, Rachna; Kashyap, Seema; Chawla, Rohan; Tandon, Radhika

    The authors report a rare case of ocular surface squamous neoplasia with intraocular involvement that had an initial masquerade presentation of recurrent anterior nodular scleritis. A 35-year-old male patient presented with right eye recurrent anterior nodular scleritis for which a lamellar patch graft was done. Two months later, the patient presented with recurrence of symptoms. Histopathology review revealed the presence of well-differentiated squamous cell malignancy. A high index of suspicion for malignancy is required in such cases when they do not respond to conventional therapy.

  20. "A Group of Me's": Adult Learning through Group Process: The Experiences of Participants in a Teleconference Delivered Multiple Sclerosis Fatigue Management Program

    ERIC Educational Resources Information Center

    Preissner, Katharine L.

    2013-01-01

    Multiple sclerosis (MS) is a chronic, progressive neurological disorder that affects approximately 2.1 million people worldwide. Fatigue is one of the most common and most disabling symptoms of MS. One well-established approach to address fatigue is fatigue management education provided by an occupational therapist. Fatigue management education is…

  1. Multifocal nodular fasciitis of the hand and shoulder: case report.

    PubMed

    Kotha, Guruvardhan Kumar; Bj, Venkatramana; Maryada, Venkateshwar Reddy; Jawalkar, Harshad

    2014-12-01

    We report a case of nodular fasciitis occurring on the dorsum of the right middle finger, the dorsum of the right hand, and the right upper back associated with cortical erosions of the scapula. Ray amputation of the middle finger and marginal excision of the hand and periscapular masses were performed. There was no recurrence of the tumor at either site a year later.

  2. Hereditary nodular heterotopia accompanied by mega cisterna magna.

    PubMed

    Oda, T; Nagai, Y; Fujimoto, S; Sobajima, H; Kobayashi, M; Togari, H; Wada, Y

    1993-08-15

    This is the first report of hereditary nodular heterotopia accompanied by mega cisterna magna. Magnetic resonance imaging documented multiple bilateral subependymal nodules, which were isointense to gray matter. This disease entity is considered a dominant trait, since the mother and two daughters, half-sisters, were affected.

  3. Brentuximab Vedotin and Combination Chemotherapy in Treating Older Patients With Previously Untreated Stage II-IV Hodgkin Lymphoma

    ClinicalTrials.gov

    2016-09-27

    Adult Lymphocyte Depletion Hodgkin Lymphoma; Adult Lymphocyte Predominant Hodgkin Lymphoma; Adult Mixed Cellularity Hodgkin Lymphoma; Adult Nodular Sclerosis Hodgkin Lymphoma; Stage II Adult Hodgkin Lymphoma; Stage III Adult Hodgkin Lymphoma; Stage IV Adult Hodgkin Lymphoma

  4. Multiple sclerosis - discharge

    MedlinePlus

    ... this page: //medlineplus.gov/ency/patientinstructions/000129.htm Multiple sclerosis - discharge To use the sharing features on this ... Your doctor has told you that you have multiple sclerosis (MS). This disease affects the brain and spinal ...

  5. Amyotrophic Lateral Sclerosis

    MedlinePlus

    Amyotrophic lateral sclerosis Overview By Mayo Clinic Staff Amyotrophic lateral sclerosis (a-my-o-TROE-fik LAT-ur-ul skluh-ROE-sis), or ALS, is a progressive nervous system (neurological) disease that ...

  6. Focal nodular hyperplasia with major sinusoidal dilatation: a misleading entity

    PubMed Central

    Laumonier, Hervé; Frulio, Nora; Laurent, Christophe; Balabaud, Charles; Zucman-Rossi, Jessica; Bioulac-Sage, Paulette

    2010-01-01

    Focal nodular hyperplasia (FNH) is a benign liver lesion thought to be a non-specific response to locally increased blood flow. Although the diagnosis of FNH and hepatocellular adenoma (HCA) has made great progress over the last few years using modern imaging techniques, there are still in daily practice some difficulties concerning some atypical nodules. Here, the authors report the case of a 47-year-old woman with a single liver lesion thought to be, by imaging, an inflammatory HCA with major sinusoidal congestion. This nodule was revealed to be, at the microscopical level and after specific immunostaining and molecular analysis, an FNH with sinusoidal dilatation (so-called telangiectatic focal nodular hyperplasia). PMID:22798311

  7. A nodular-ulcerative form of secondary syphilis in AIDS

    PubMed Central

    Owen, Benjamin D.; Balavenkataraman, Arvind; Weinstein, Mitchell R.

    2017-01-01

    An uncommon variant in the pre-AIDS era, lues maligna is a nodular-ulcerative form of secondary syphilis. We present a case of a 41-year-old man with HIV infection who developed fever, chills, nausea, vomiting, right upper quadrant abdominal pain, weight loss, watery diarrhea, and a painless, nonpruritic rash. He had diffuse nodular-ulcerative lesions in various stages of development. He was found to have a CD4 count of 101 cells/mm3 (22%), an HIV viral load of 2,735,060 copies/mL, and a positive rapid plasma reagin at 1:64. He was started on emtricitabine, tenofovir, and dolutegravir, as well as doxycycline. He was given benzathine penicillin 2.4 million units intramuscularly and within hours developed a Jarisch-Herxheimer reaction. Skin lesions showed signs of healing, and constitutional symptoms improved 48 hours later. PMID:28127144

  8. Nodular fasciitis of the hand: excision preserving 'vital' structures.

    PubMed

    Al-Qattan, M M; Arafah, M M

    2014-10-01

    Nodular fasciitis is an extremely rare benign fibrous tumour of the hand. Although benign, the tumour is frequently adherent to tendons/nerves and joints of the hand. However, the tumour may spontaneously regress and does not tend to recur following excision with histologically positive margins. For the last 20 years, the author has adopted a specific management approach for these and other benign fibrous tumours of the hand. Following the clinical/radiological diagnosis, tumour excision is done preserving 'vital' structures within the hand. The diagnosis is confirmed histologically and by immune stains, and the patient is then followed up for local recurrence. Over a 20-year period, the author has treated four cases of nodular fasciitis of the hand using this management approach. Despite the positive margins in all cases, there were no recurrences at a minimum follow-up interval of 3 years.

  9. Nodular fasciitis in finger simulating soft tissue malignancy.

    PubMed

    Monteiro, Soraya Silveira; Ribeiro, Diva Helena; Rodrigues, Tatiane Cantarelli; Junior, Gerson Ferreira Gontijo; Arruda, Kylza; Fernandes, Eloy De Avila

    2014-01-01

    Nodular fasciitis (NF) is a rare fibroblastic proliferative lesion, characterized clinically as a solitary mass of hardened and slightly painful on palpation, fast growing and no gender preference. The objective of this study is to report the case of a patient with NF in third finger of left hand, describe the findings of plain radiography, computed tomography and magnetic resonance imaging and correlate with the literature. Since the diagnosis of NF is a challenge, being necessary to conciliate the clinical, radiological and pathological.

  10. Solitary Nodular Lesion of Tongue- A Rare Entity

    PubMed Central

    Sarada, P.; Reddy, C.H. Sampath; A.K, Patil; Kurra, Saritha

    2014-01-01

    The solitary, nodular lesions of the oral mucosa present a diagnostic dilemma to the dentist with their analogous presentation. The lesions that appear on the tongue, a soft muscular organ are distinct and even rarer with varied manifestations. Oral mucosa presents lesions of the tongue in all age groups that may range from a small nodular swelling and ulcer formation in an infant of a few days old to an ulcer or a lesion in a 70-year-old. The reason for the appearance of an ulcer may be trauma to the soft tissues in an infant may be due to the presence of natal teeth to the presence of a sharp tooth in the older individuals. These lesions have to be clinically and histologically correlated for the final outcome of the diagnosis, so that there is no chance of any recurrence. We present a unique case of a solitary nodular lesion on the ventral surface of tongue On a 6 year female, where there was a recurrence after surgical excision and after an unusual therapy of non surgical resolution, no recurrence was observed. PMID:24701550

  11. Epidemiology of nodular goitre. Influence of iodine intake.

    PubMed

    Carlé, Allan; Krejbjerg, Anne; Laurberg, Peter

    2014-08-01

    More than one tenth of the world population is to some degree affected by goitre and most of these harbour nodules. The large differences in thyroid disease prevalence between populations may be caused by genetic and environmental factors. Among the latter, iodine deficiency seems by far to be the most important risk factor. Thus, nodular goitre is a condition predominantly seen in iodine deficient areas of the world. In the present review, we evaluated in detail autopsy and ultrasound studies of the thyroid gland. In autopsy studies, large thyroid volumes and high frequencies of goitres have been reported in countries affected by iodine deficiency. Many cross-sectional studies using thyroid ultrasound investigations have been performed world-wide and reported high thyroid volumes and goitre prevalences, and to some extent also high prevalences of thyroid nodules in iodine-deficient countries. Most of these goitres were classified as nodular goitres. On the other hand, few studies have shown that abundant iodine intake may lead to development of diffuse goitres, but world-wide this has been a minor problem compared with development of nodular goitres. In the past century we have observed a trend towards smaller thyroid glands, and hopefully less than 10% of the world population will experience goitre within a few decades.

  12. Morpho-histodifferentiation of Billbergia Thunb. (Bromeliaceae) nodular cultures.

    PubMed

    de Souza, Thaysi Ventura; Thiesen, Julia Faillace; Lando, Ana Paula; Guerra, Miguel Pedro; Santos, Marisa

    2017-01-01

    Nodule cultures are formed through an intermediate morphogenetic route that lies between organogenesis and somatic embryogenesis. Although well described in many species, different aspects of the morphological and histological development of nodules remain to be clarified. Based on their threatened status and high ornamental value, Billbergia alfonsi-joannis and Billbergia zebrina, two epiphytic bromeliad species endemic to the South American Atlantic Forest, were studied. Nodular cultures were induced to grow from nodal segments taken from etiolated seedlings grown in vitro for 12 weeks in the dark on MS medium supplemented with 1 μM TDZ. Samples were taken for analysis weekly over 8 weeks of growth and analyzed under light, transmission electron, and scanning electron microscopes. Morphological and histological analysis showed that nodular clusters originated from stem pericycles and consisted of a polycenter, cambial tissue, cortical parenchyma, and a covering tissue. The polycenter consisted of an organizational center dispersed in parenchymal tissue. Each organizational center was formed by a vascular system surrounded by a bundle sheath. A cambial tissue surrounded these polycenters, promoting the regeneration of new nodules and leading to the formation of buds and roots. Primary nodules could generate secondary nodules in a repetitive process. Thus, histological analysis revealed the origin and formation of nodular cultures. These new data will support the establishment of micropropagation protocols and regeneration on a large scale for these species.

  13. Nodular scabies: a classical case report in an adolescent boy.

    PubMed

    Ramachandra Reddy, Damodara; Ramachandra Reddy, Prathap

    2015-09-01

    This case report presents a classical case of nodular scabies in a 12 year boy who complained of itching for 20-21 days before presentation to the hospital. Application of Betnovate ointment (Betamethasone valerate 0.1 %) before presentation to the hospital had provided only 2-3 days of relief from itching. Dermatological examination revealed skin colored to erythematous papule of 3-4 mm on the body with predilection for web space of fingers and flexural areas and nodules on the scrotum and groin. Based on this, clinical diagnosis of scabies with nodular scabies was made on the child. The scraping obtained from the web-space of the child showed mite under the light microscope, which confirms the diagnosis. Treatment with topical permethrin 5 % lotion resulted in 50-70 % subsidence of itching within a day, and improvement in impetigo lesions of his father in 5 days. However, the scrotal and groin nodular lesion of the child persisted with severe itching. Treatment with topical steroid and tacrolimus 0.1 % ointment did not show much improvement. Intralesional injection of triamcinolone (5 mg/ml) on the nodule resulted in 30-40 % subsidence in itching and 50-60 % reduction in the size of the lesion over 2-3 weeks.

  14. Hot spot liver scan in focal nodular hyperplasia

    SciTech Connect

    Piers, D.A.; Houthoff, H.J.; Krom, R.A.F.; Schuur, K.H.; Sikkens, H.; Weits, J.

    1980-12-01

    In scintigraphy of the liver with radiocolloid, space-occupying lesions generally are visualized as regions of decreased accumulation of radioactivity. Rarely focal areas of increased activity are depicted; most are related to altered vascular dynamics in the liver secondary to obstruction of the superior or inferior vena cava or the hepatic veins. There are reports of single cases of focally increased activity due to a hepatic hemangioma, hepatic venoocclusive disease, herniation of a part of the liver, and a liver hot spot found after radiocolloid injection via a malpositioned central venous catheter in one of the hepatic vein branches. In patients with focal nodular hyperplasia, liver scans with solitary defects as well as normal patterns are found. In some cases, increased uptake of colloid in the lesion has been documented. Pasquier and Dorta reported a patient with a palpable mass in the left liver lobe with increased accumulation of radioactivity on the radiocolloid liver scan. The histologic diagnosis was hamartoma, but reviewing the description and considering the confusion in the past concerning the nomenclature, this case is suggestive of focal nodular hyperplasia. We report a patient with focal nodular hyperplasia who had increased radiocolloid uptake in the lesion. The radionuclide studies are compared with angiography, sonography, and computed tomography. An explanation for the localized increased colloid accumulation based on histologic findings is suggested.

  15. Diagnostic accuracy of nodular gastritis for H. pylori infection

    PubMed Central

    Romero-Flores, Juan L; Fernandez-Rivero, Justo A; Marroquín-Fabian, Erika; Téllez-Ávila, Félix I; Sánchez-Jiménez, Beatriz A; Juárez-Hernández, Eva; Uribe, Misael; Chávez-Tapia, Norberto C

    2017-01-01

    Background The term nodular is not included in the Sydney classification and there is no widely accepted histopathological definition. It has been proposed that the presence of antral nodularity could predict Helicobacter pylori (H. pylori) infection. The aim of this study was to determine the diagnostic accuracy of nodular gastritis (NG) for H. pylori infection after a rigorous standardization process, and to describe the associated histopathological characteristics. Materials and methods Endoscopic images of patients submitted to endoscopy with biopsy sampling were included. Endoscopic images were distributed among six endoscopists. The analysis was performed sequentially in three rounds: the first round assessed the interobserver variability, the second evaluated the intraobserver variability, and the third calculated the interobserver variability after training. A correlation analysis between endoscopic and histopathological findings was performed. Results A total of 917 studies were included. In the first analysis of interobserver variability, a poor kappa value (0.078) was obtained. The second evaluation yielded good intraobserver variability, with kappa values of 0.62–0.86. The evaluation of interobserver variability after training revealed an improvement in the kappa value of 0.42. A correlation was found between endoscopic images and histopathological reports. Conclusion There was a strong correlation between NG and H. pylori, but only after rigorous evaluation. The use of the term NG requires extensive standardization before it can be used clinically. PMID:28031716

  16. [Multiple sclerosis: current immunological aspects].

    PubMed

    Cuevas-García, Carlos

    2017-01-01

    Multiple sclerosis is the most common inflammatory, chronic and degenerative condition of the central nervous system, and represents the first cause of disability in young adults. In Mexico, 11 to 20 out of every 100 000 people suffer from this disease. The causes of multiple sclerosis remain unknown, but several theories have been proposed: the interaction of environmental factors, viral infectious factors and genetic and immune susceptibility of each individual patient, which induce an autoimmune response and promote neuronal/axonal degeneration. In this review, the immune reaction main components and neurodegeneration present in multiple sclerosis are analyzed, as well as the inflammatory cascade associated with demyelination. Available treatments' main purpose is to modulate aspects related to the adaptive immune response (B and T cells). The therapeutic challenge will be antigen-specific immune-tolerance induction, for example, with the use of tolerance protocols with peptides or DNA or nanoparticles vaccines. Future therapies should aim to control innate components (microglia, macrophages, astrocytes) and to promote remyelination. To optimize the treatment, a combined therapeutic approach targeting the control of inflammatory and neurodegenerative components of the disease and monitoring of biomarkers will be necessary.

  17. Symptomatic management in multiple sclerosis

    PubMed Central

    Shah, Pushkar

    2015-01-01

    Multiple sclerosis (MS) is the commonest cause of disability in young adults. While there is increasing choice and better treatments available for delaying disease progression, there are still, very few, effective symptomatic treatments. For many patients such as those with primary progressive MS (PPMS) and those that inevitably become secondary progressive, symptom management is the only treatment available. MS related symptoms are complex, interrelated, and can be interdependent. It requires good understanding of the condition, a holistic multidisciplinary approach, and above all, patient education and empowerment. PMID:26538847

  18. Serum Selenium Levels in Euthyroid Nodular Thyroid Diseases.

    PubMed

    Sakız, Davut; Kaya, Ahmet; Kulaksizoglu, Mustafa

    2016-11-01

    The thyroid gland is susceptible to nodulation. The mechanism responsible for the growth of only some follicular cells, which results in nodule formation, is not yet clear. Selenium deficiency may be a risk factor in the development of thyroid nodules. The aim of this study was to investigate the relationship between selenium levels in patients with euthyroid nodular thyroid disease. Seventy patients with a solitary euthyroid thyroid nodule, 70 patients with more than one euthyroid nodule, and 60 healthy patients without thyroid nodules were included in the study. Venous serum samples were stored at -80°C and analyzed the same day using spectrometry. The selenium levels of patients with multiple thyroid nodules, solitary nodules, and patients without nodules were 57.3 ± 14.8 μg/L; 58.8 ± 15.1 μg/L; and 57.6 ± 13.3 μg/L, respectively. The mean serum selenium level of all patients included in the study was 57.9 ± 14.4 μg/L. Although serum selenium levels were slightly higher in men, a statistically significant difference was not observed. In our study, a significant relationship between serum selenium levels and nodular thyroid disease was not seen. Our study was undertaken in an iodine sufficient region. Mean serum selenium levels were lower compared with many other studies, which may be associated with the low selenium content of the soil. Nodular thyroid disease shows multifactorial features. When our study is considered together with previous studies, serum selenium levels may considered to be effective on structural thyroid diseases if combined with additional factors such as severe iodine deficiency. Further studies are required to assess the role of selenium in thyroid nodule formation.

  19. Wear-resistant nodular iron for automotive piston rings

    NASA Astrophysics Data System (ADS)

    Vatavuk, J.; Mariano, J. R.

    1992-01-01

    Progress in automotive engine development demands new cost-effective materials with higher mechanical properties and improved wear resistance as compared to existing materials. For example, niobium, as niobium carbide, improves the wear resistance of a typical nodular iron used for piston rings. Niobium prompts the precipitation of stable and hard niobium carbides in the liquid; these particles do not interfere with the subsequent heat treatment of the iron. Industrial production of new niobium-alloyed piston rings was accomplished with a minimum of disruption in normal production processes.

  20. Nodular Fasciitis Complicating a Staged Surgical Excision of Dermatofibrosarcoma Protuberans

    PubMed Central

    Goodwin, Brandon; Wagner, Richard F.; Resto, Vicente; Kelly, Brent

    2016-01-01

    Dermatofibrosarcoma protuberans (DFSP) is an unusual spindle cell tumor with a high rate of local recurrence with traditional excision. Fortunately, Mohs micrographic surgery yields excellent cure rates for this neoplasm due to contiguous tumor spread and meticulous tumor mapping and margin analysis. We present the unique case of a patient treated with a modified Mohs technique with an analysis of the final margin with permanent sections, who developed a spindle cell neoplasm in the margins of her second stage excision consistent with nodular fasciitis. Distinguishing residual DFSP from a benign reactive process was an essential and challenging component of this patient's management. PMID:28018683

  1. Bortezomib, Ifosfamide, and Vinorelbine Tartrate in Treating Young Patients With Hodgkin's Lymphoma That is Recurrent or Did Not Respond to Previous Therapy

    ClinicalTrials.gov

    2014-06-18

    Adult Lymphocyte Depletion Hodgkin Lymphoma; Adult Lymphocyte Predominant Hodgkin Lymphoma; Adult Mixed Cellularity Hodgkin Lymphoma; Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma; Adult Nodular Sclerosis Hodgkin Lymphoma; Childhood Lymphocyte Depletion Hodgkin Lymphoma; Childhood Lymphocyte Predominant Hodgkin Lymphoma; Childhood Mixed Cellularity Hodgkin Lymphoma; Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma; Childhood Nodular Sclerosis Hodgkin Lymphoma; Recurrent Adult Hodgkin Lymphoma; Recurrent/Refractory Childhood Hodgkin Lymphoma; Stage I Adult Hodgkin Lymphoma; Stage I Childhood Hodgkin Lymphoma; Stage II Adult Hodgkin Lymphoma; Stage II Childhood Hodgkin Lymphoma; Stage III Adult Hodgkin Lymphoma; Stage III Childhood Hodgkin Lymphoma; Stage IV Adult Hodgkin Lymphoma; Stage IV Childhood Hodgkin Lymphoma

  2. Tuberous sclerosis complex.

    PubMed

    Islam, Monica P; Roach, E Steve

    2015-01-01

    Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable. Most individuals have seizures, commonly including infantile spasms, and there is variable intellectual disability and autism. Neonates can present with cardiac failure due to intracardiac rhabdomyomas. The likelihood of renal angiomyolipomas increases with age, and renal disease is the most common cause of death in adults with TSC. Pulmonary involvement occurs predominantly in women and carries a high morbidity and mortality. TSC is inherited as an autosomal dominant trait, but spontaneous mutations are common. A mutation of either TSC1 on chromosome 9 or TSC2 on chromosome 16 leads to dysfunction of hamartin or tuberin, respectively. These two proteins form a functional complex that modulates the mammalian target of rapamycin (mTOR) pathway. Medications that inhibit mTOR are being used to treat TSC-related tumors, and current studies are investigating whether these agents could alleviate other TSC complications. Consensus statements guide identification and optimal management of many of the TSC-related complications at diagnosis and throughout the lifespan. A multidisciplinary approach is necessary for optimal management of individuals with TSC.

  3. Tuberous sclerosis complex.

    PubMed

    Henske, Elizabeth P; Jóźwiak, Sergiusz; Kingswood, J Christopher; Sampson, Julian R; Thiele, Elizabeth A

    2016-05-26

    Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estimated that nearly 2 million people are affected by the disease worldwide. The clinical features of TSC are distinctive and can vary widely between individuals, even within one family. Major features of the disease include tumours of the brain, skin, heart, lungs and kidneys, seizures and TSC-associated neuropsychiatric disorders, which can include autism spectrum disorder and cognitive disability. TSC1 (also known as hamartin) and TSC2 (also known as tuberin) form the TSC protein complex that acts as an inhibitor of the mechanistic target of rapamycin (mTOR) signalling pathway, which in turn plays a pivotal part in regulating cell growth, proliferation, autophagy and protein and lipid synthesis. Remarkable progress in basic and translational research, in addition to several randomized controlled trials worldwide, has led to regulatory approval of the use of mTOR inhibitors for the treatment of renal angiomyolipomas, brain subependymal giant cell astrocytomas and pulmonary lymphangioleiomyomatosis, but further research is needed to establish full indications of therapeutic treatment. In this Primer, we review the state-of-the-art knowledge in the TSC field, including the molecular and cellular basis of the disease, medical management, major knowledge gaps and ongoing research towards a cure.

  4. Randomized controlled trial of a teleconference fatigue management plus physical activity intervention in adults with multiple sclerosis: rationale and research protocol

    PubMed Central

    2012-01-01

    Background Chronic fatigue and inactivity are prevalent problems among individuals with multiple sclerosis (MS) and may independently or interactively have detrimental effects on quality of life and ability to participate in life roles. However, no studies to date have systematically evaluated the benefits of an intervention for both managing fatigue and promoting physical activity in individuals with MS. This study involves a randomized controlled trial to examine the effectiveness of a telehealth intervention that supports individuals with MS in managing fatigue and increasing physical activity levels. Methods/Design A randomly-allocated, three-parallel group, time-series design with a social support program serving as the control group will be used to accomplish the purpose of the study. Our goal is to recruit 189 ambulatory individuals with MS who will be randomized into one of three telehealth interventions: (1) a contact-control social support intervention, (2) a physical activity-only intervention, and (3) a physical activity plus fatigue management intervention. All interventions will last 12 weeks and will be delivered entirely over the phone. Our hypothesis is that, in comparison to the contact-control condition, both the physical activity-only intervention and the physical activity plus fatigue management intervention will yield significant increases in physical activity levels as well as improve fatigue and health and function, with the physical activity plus fatigue management intervention yielding significantly larger improvements. To test this hypothesis, outcome measures will be administered at Weeks 1, 12, and 24. Primary outcomes will be the Fatigue Impact Scale, the Godin Leisure-Time Exercise Questionnaire (GLTEQ), and Actigraph accelerometers. Secondary outcomes will include the SF-12 Survey, Mental Health Inventory, Multiple Sclerosis Impact Scale, the Community Participation Indicator, and psychosocial constructs (e.g., self

  5. Predictors of Employment Status for People with Multiple Sclerosis

    ERIC Educational Resources Information Center

    Roessler, Richard T.; Rumrill, Phillip D.; Fitzgerald, Shawn M.

    2004-01-01

    This study examined the relevance of the disease-and-demographics model for explaining the employment outcomes of adults with multiple sclerosis (MS). Participating in a national survey of their employment concerns, 1,310 adults with MS provided data for the study (274 men, 21%; 1,020 women, 78%; 16 participants did not identify their gender).…

  6. Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.

    PubMed

    McCann, Marcia V; Pongonis, Stephen J; Golomb, Meredith R; Edwards-Brown, Mary; Christensen, Celanie K; Sokol, Deborah K

    2008-08-01

    Periventricular nodular heterotopia is a common malformation of cortical development in which the migration of developing neurons destined for the cerebral cortex is abbreviated. Bilateral periventricular nodular heterotopia is most commonly an X-linked disorder that involves mutations in the filamin A (FLNA) gene, but an autosomal recessive form and sporadic forms have been identified. To our knowledge, autosomal dominant transmission of isolated periventricular nodular heterotopia has not been reported. Periventricular nodular heterotopia has a heterogeneous phenotype, associated commonly with seizure disorder, and more recently with reading deficits and visual-spatial deficits in some patients. We present a father and son with bilateral periventricular nodular heterotopia and similar visual-spatial learning deficits, consistent with nonverbal learning disability.

  7. [A patient with muscular torticollis caused by nodular fasciitis in the sternocleidomastoid muscle (SCM)].

    PubMed

    Hemmi, Shoji; Murakami, Tatufumi; Shirabe, Teruo; Sunada, Yoshihide

    2002-09-01

    Nodular fasciitis is a benign pseudosarcomatous proliferative lesion which is frequently misdiagnosed as malignant tumor clinically and microscopically. It usually occurs as a rapidly enlarging subcutaneous mass on the upper extremities, especially on the forearm. Here we report a patient showing muscular torticollis caused by nodular fasciitis in the sternocleidomastoid muscle (SCM). A 17-year-old woman was hospitalized because of rapidly progressive torticollis. The right SCM was markedly enlarged and firm on palpation. Muscle biopsy taken from the right SCM revealed massive proliferation of spindle shaped fibroblasts infiltrating into the endomysium. These findings coincided with the intramuscular nodular fasciitis. However, different from typical nodular fasciitis, no apparent nodule formation was found in this patient. Instead, diffuse proliferative lesion extended widely into the neck soft tissue. To our knowledge, this is the first report of muscular torticollis caused by nodular fasciitis involving the SCM.

  8. Nodular Lymphocyte Predominant Hodgkin Lymphoma of the Thyroid

    PubMed Central

    Cassis, João; Simões, Helder; Sequeira Duarte, João

    2016-01-01

    Thyroid lymphomas are rare clinical entities that may result from either the primary intrathyroid de novo or secondary thyroid gland involvement of a lymphoma. Among these, the Hodgkin's subtype is quite uncommon, accounting for 0.6–5% of all thyroid malignancies. The authors report on a 76-year-old female presenting with a thyroid nodule that, upon surgical excision, was found to be a nodular lymphocyte predominant Hodgkin lymphoma of the thyroid. So far, thyroid involvement by this variant has never been reported. Upon reporting on this clinical case, the authors emphasize the difficulties usually found in establishing the diagnosis and in defining the best management strategy. A thorough review of the available literature is done. PMID:28044111

  9. Left upper lobe mass and diffuse reticular-nodular infiltrate.

    PubMed

    Jackson, H D; Carney, K J; Knautz, M A; Tenholder, M F

    1994-06-01

    We encountered a clinical problem in a young man who presented with a left upper lobe mass and a diffuse reticular-nodular infiltrate. We thought we had appropriately applied Murphy's Law (the famed bank robber who "went where the money is"), and Ockham's Razor (the philosopher William of Ockham [1285 to 1349]-"Entities are not to be multiplied beyond necessity") as we rapidly diagnosed the lung mass with computed tomography, scintigraphy, and fine-needle aspiration. However, when his invaluable previous chest radiographs arrived, bronchoscopy with transbronchial biopsy, bronchoalveolar lavage, brushings, and postbronchoscopy sputum revealed the more ominous diagnosis in this patient. This case illustrates the complementary nature of current imaging and bronchoscopy techniques; but, even more importantly, it demonstrates the value of the history coupled with the previous radiograph. Even an unusual case can provide lessons in cost containment.

  10. Sclerosing angiomatoid nodular transformation of the spleen. A case report.

    PubMed

    Martínez Martínez, Pedro Jesús; Solbes Vila, Ramón; Bosquet Úbeda, Carlos Javier; Roig Álvaro, José María

    2017-03-01

    A 57 year old woman presenting with heartburn and a one month history of epigastric abdominal pain and left hypochondrium pain. After conducting an ultrasound scan and a CT scan, a low attenuation lesion in the spleen was found, and the definitive diagnosis was sclerosing angiomatoid nodular transformation of the spleen (STANT) which was based on a splenectomy and a pathologic study. SANT is a benign rare vascular disease consisting of proliferation of angiomatoid/vascular nodules which predominantly affects women aged 27 to 68. It is usually detected as a coincidental finding in asymptomatic patients. The presumptive diagnosis is established by imaging tests, especially CT and MR; and the final diagnosis is as well established on the basis of pathology after a splenectomy.

  11. Nodular lymphocyte predominant hodgkin lymphoma: biology, diagnosis and treatment.

    PubMed

    Goel, Anupama; Fan, Wen; Patel, Amit A; Devabhaktuni, Madhuri; Grossbard, Michael L

    2014-08-01

    Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is an uncommon variant of classical Hodgkin lymphoma. It is characterized histologically by presence of lymphohistiocytic cells which have B-cell phenotype, are positive for CD19, CD20, CD45, CD79a, BOB.1, Oct.2, and negative for CD15 and CD30. Patients often present with early stage of disease and do not have classical B symptoms. The clinical behavior appears to mimic that of an indolent non-Hodgkin lymphoma more than that of classical Hodgkin disease. The purpose of the present report is to define the biology of NLPHL, review its clinical presentation, and summarize the available clinical data regarding treatment.

  12. [Nodular secondary syphilis in a HIV patient mimicking cutaneous lymphoma].

    PubMed

    Baniandrés Rodríguez, O; Nieto Perea, O; Moya Alonso, L; Carrillo Gijón, R; Harto Castaño, A

    2004-05-01

    We report the case of a 61-year old man who, already for a month, had infiltrated plaques on the chest, back, neck and face as well as axilar lymphadenopathy, bearing a striking resemblance to lymphoma. During his stay in the hospital he had fever, sore throat, macules on the palms and soles and a depapilated plaque on the tongue and alopecia. A test for syphilis confirmed the diagnosis. The HIV serology was also positive. The nodular secondary syphilis is an unusual form that was first documented more than 20 years ago. Since then, only a few cases have been reported in which the first diagnosis included lymphoreticular malignancy. This form of secondary syphilis was found in the HIV-infected as well as non-infected patients. We discuss the atypical clinical course, the inappropriate serological reactions and the therapy in HIV infected patients with secondary syphilis.

  13. Periventricular nodular heterotopia in Smith-Magenis syndrome.

    PubMed

    Capra, Valeria; Biancheri, Roberta; Morana, Giovanni; Striano, Pasquale; Novara, Francesca; Ferrero, Giovanni Battista; Boeri, Luca; Celle, Maria Elena; Mancardi, Maria Margherita; Zuffardi, Orsetta; Parrini, Elena; Guerrini, Renzo

    2014-12-01

    Smith-Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have RAI1 gene mutations. The syndrome is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioural and neurocognitive abnormalities, as well as variable multisystemic manifestations. Periventricular nodular heterotopia (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, epileptic seizures and intellectual disability. Here we report on two patients harboring deletions of the 17p11.2 region in whom the SMS typical phenotype was associated with bilateral PNH. Our observations expand the spectrum of chromosomal rearrangements associated with PNH and indicate that abnormal neuronal migration may contribute to the neurocognitive phenotype of SMS.

  14. Vision and multiple sclerosis.

    PubMed

    Hickman, Simon J; Raoof, Naz; McLean, Rebecca J; Gottlob, Irene

    2014-01-01

    Multiple sclerosis can affect vision in many ways, including optic neuritis, chronic optic neuropathy, retrochiasmal visual field defects, higher order cortical processing, double vision, nystagmus and also by related ocular conditions such as uveitis. There are also side effects from recently introduced multiple sclerosis treatments that can affect vision. This review will discuss all these aspects and how they come together to cause visual symptoms. It will then focus on practical aspects of how to recognise when there is a vision problem in a multiple sclerosis patient and on what treatments are available to improve vision.

  15. Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia.

    PubMed

    Pardoe, Heath R; Mandelstam, Simone A; Hiess, Rebecca Kucharsky; Kuzniecky, Ruben I; Jackson, Graeme D

    2015-01-01

    We investigated systematic differences in corpus callosum morphology in periventricular nodular heterotopia (PVNH). Differences in corpus callosum mid-sagittal area and subregional area changes were measured using an automated software-based method. Heterotopic gray matter deposits were automatically labeled and compared with corpus callosum changes. The spatial pattern of corpus callosum changes were interpreted in the context of the characteristic anterior-posterior development of the corpus callosum in healthy individuals. Individuals with periventricular nodular heterotopia were imaged at the Melbourne Brain Center or as part of the multi-site Epilepsy Phenome Genome project. Whole brain T1 weighted MRI was acquired in cases (n=48) and controls (n=663). The corpus callosum was segmented on the mid-sagittal plane using the software "yuki". Heterotopic gray matter and intracranial brain volume was measured using Freesurfer. Differences in corpus callosum area and subregional areas were assessed, as well as the relationship between corpus callosum area and heterotopic GM volume. The anterior-posterior distribution of corpus callosum changes and heterotopic GM nodules were quantified using a novel metric and compared with each other. Corpus callosum area was reduced by 14% in PVNH (p=1.59×10(-9)). The magnitude of the effect was least in the genu (7% reduction) and greatest in the isthmus and splenium (26% reduction). Individuals with higher heterotopic GM volume had a smaller corpus callosum. Heterotopic GM volume was highest in posterior brain regions, however there was no linear relationship between the anterior-posterior position of corpus callosum changes and PVNH nodules. Reduced corpus callosum area is strongly associated with PVNH, and is probably associated with abnormal brain development in this neurological disorder. The primarily posterior corpus callosum changes may inform our understanding of the etiology of PVNH. Our results suggest that

  16. Asymptomatic Multiple Myeloma Presenting as a Nodular Hepatic Lesion: A Case Report and Review of the Literature

    PubMed Central

    Huang, Hans; Bazerbachi, Fateh; Mesa, Hector; Gupta, Pankaj

    2015-01-01

    Background Plasma cell myeloma is the most common primary bone malignancy in adults. However, liver involvement in the form of an initial and asymptomatic nodular plasmacytoma is exceedingly rare. Case Report A 64-year-old male was found to have a right hepatic lobe nodule on a routine abdominal ultrasound prior to bariatric surgery. Liver biopsy revealed a plasma cell neoplasm that, given the location of the lesion, was favored to represent a lymphoma with prominent plasmacytic differentiation. Positron emission tomography (PET) demonstrated a hypermetabolic hepatic mass and identified multiple destructive bony lesions. Biopsy of a clavicular lesion revealed sheets of plasma cells and confirmed the diagnosis of multiple myeloma. The patient underwent 6 cycles of chemotherapy with cyclophosphamide, bortezomib, and dexamethasone before transitioning to lenalidomide and dexamethasone because of early disease progression. Although the patient had International Staging System I (low-risk) disease, his disease demonstrated an aggressive clinical course and resistance to multiple lines of therapy. Conclusion Extramedullary nodular hepatic plasmacytoma is exceedingly rare. Nevertheless, extramedullary plasmacytomas should be included in the differential diagnosis of patients with indistinct hepatic lesions visualized on computed tomography scan, especially if PET scans show associated bony lesions. In general, extramedullary plasmacytomas are a poor prognostic sign and a harbinger of an aggressive clinical course in the context of multiple myeloma. PMID:26730235

  17. The Diagnostic Challenge of Multiple Sclerosis

    PubMed Central

    Seland, T. Peter

    1984-01-01

    Multiple sclerosis is a common cause of many neurological complaints and disabilities among young, adult Canadians. In the absence of a reliable and specific laboratory test for the disease, the diagnosis is established primarily by clinical criteria, which are outlined in this article. Recent advances in immunology, neurophysiology and neuroimaging have provided techniques to improve diagnostic confidence, particularly in early or atypical cases. PMID:21278960

  18. [Histopathological Study of the Relationship between Lymphoid Follicles and Different Endoscopic Types of Nodular Gastritis].

    PubMed

    Nagata, Takuo; Ishitake, Hisahito; Shimamoto, Fumio; Tamura, Tadamasa; Matsumura, Kazunori; Sumii, Masaharu; Nakai, Shirou

    2014-11-01

    Nodular gastritis is characterized histologically by hyperplasia and enlargement of lymphoid follicles in the lamina propria. With the objective of elucidating the relationship between different endoscopic types of nodular gastritis and lymphoid follicles, distributions of lymphoid follicles in the lamina propria were investigated in young gastric cancer patients with nodular gastritis. For the study, whole-mucosal step sectioning of each resected stomach was performed, the densities of lymphoid follicles of all specimens were measured microscopically, and the horizontal and depth distributions were calculated. For assessment in the horizontal direction, density distribution diagrams of lymphoid follicles were created. For assessment in the depth direction, the different endoscopic types of nodular gastritis were compared in the five different analysis sites. In the assessment of the horizontal distribution, no characteristic distribution tendencies were observed in either the granular type group or the scattered type group; however, it was found that areas with relatively high densities of lymphoid follicles generally coincided with the areas where nodular gastritis was observed endoscopically. These results suggested that hyperplasia and aggregation of lymphoid follicles in the lamina propria are involved at the sites where nodular gastritis is observed endoscopically. In the assessment of the depth distribution, lymphoid follicles tended to be more unevenly distributed in the upper lamina propria in the granular type group than in the scattered type at the three different analysis sites where nodular gastritis was observed endoscopically. These results suggested the possibility of a granular type characteristic.

  19. The management of multiple sclerosis in children: a European view.

    PubMed

    Ghezzi, Angelo; Banwell, Brenda; Boyko, Alexey; Amato, Maria Pia; Anlar, Banu; Blinkenberg, Morten; Boon, Maartje; Filippi, Massimo; Jozwiak, Sergiusz; Ketelslegers, Immy; Kornek, Barbara; Lim, Ming; Lindstrom, Eva; Nadj, Congor; Neuteboom, Rinze; Rocca, Maria A; Rostasy, Kevin; Tardieu, Marc; Wassmer, Evangeline; Catsman-Berrevoets, Coriene; Hintzen, Rogier

    2010-10-01

    About 3-5% of all patients with multiple sclerosis experience the onset of their disease under the age of 16. A significant proportion of paediatric multiple sclerosis patients develop significant cognitive disturbances and persistent physical disability. The high relapse rate and the morbidity in the paediatric multiple sclerosis population has triggered the use of disease-modifying therapies that have been shown to reduce relapse rate, disease progression and cognitive decline in adult patients with multiple sclerosis. Hard evidence for the right treatment and its appropriate timing is scarce in paediatric multiple sclerosis. Nevertheless, expertise in this field has grown thanks to recent open-label trials and experience generated in specialized centres. In spring 2009, a first meeting was held in Rotterdam with clinicians from 11 European countries (one from Canada) that are all active in the management of paediatric multiple sclerosis. One of the aims was to generate a common view on the management of paediatric multiple sclerosis patients. The result of this meeting is presented here to help standardize treatment and to support clinicians with less experience in this field.

  20. Amyotrophic Lateral Sclerosis

    MedlinePlus

    Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. These neurons ... breathing machine can help, but most people with ALS die from respiratory failure. The disease usually strikes ...

  1. [Amyotrophic lateral sclerosis].

    PubMed

    Veldink, J H; Weikamp, J; Schelhaas, H J; van den Berg, L H

    2010-01-01

    Amyotrophic lateral sclerosis is one of the most severe and disabling diseases of the nervous system. Amyotrophic lateral sclerosis leads to the progressive weakening of the muscles in the arms, legs, face, mouth and trunk. The onset of the disease is insidious, starting with weakness in the hands or feet or with slurred speech. The weakness worsens and patients pass away as a result of weakness of the respiratory muscles on average within 3 years of the onset of the disease. In the Netherlands, approximately 400 patients are diagnosed with amyotrophic lateral sclerosis every year. There is no diagnostic test for this neuro-muscular disease; the diagnosis is established by excluding other disorders that resemble amyotrophic lateral sclerosis. Only one drug is able to inhibit the progression of the disease to any extent: riluzole. Treatment, therefore, is mainly focused on supportive measures and those which enhance the quality of life optimally.

  2. Comparing adult and pediatric Hodgkin lymphoma in the Surveillance, Epidemiology and End Results Program, 1988-2005: an analysis of 21 734 cases.

    PubMed

    Bazzeh, Faiha; Rihani, Rawad; Howard, Scott; Sultan, Iyad

    2010-12-01

    We analyzed data from 18 898 adults (age ≥20 years) and 2836 children/adolescents reported in the Surveillance, Epidemiology and End Results (SEER) database as having Hodgkin lymphoma (HL), diagnosed from 1988 to 2005. The nodular sclerosis subtype was significantly more common in the pediatric age group (76% in children/adolescents vs. 61% in adults, p < 0.001). The mixed cellularity subtype was more prevalent in children <10 years old (22%), but less likely in older children/adolescents (8.5%). Systemic symptoms were reported in 39% of children/adolescents and in 48% of adults (p < 0.001). Children/adolescents had significantly better HL-specific survival than adults (5-year survival rate, 96% ± 0.4% vs.88% ± 0.3%, p < 0.001). Using a Cox proportional-hazards regression model in patients with classical HL, the prognostic factors significantly impacting survival were age, histology, stage, B symptoms, year of diagnosis, and race. The only adverse prognostic factors that were significant when this analysis was restricted to children/adolescents were stage IV disease and the presence of B symptoms. In conclusion, several differences in clinicopathologic features and outcomes were identified between children/adolescents and adults with HL, and this was particularly noted in young children (<10 years).

  3. Intestinal nodular lymphoid hyperplasia and extraintestinal lymphoma--a rare association.

    PubMed

    Monsanto, P; Lérias, C; Almeida, N; Lopes, S; Cabral, J E; Figueiredo, P; Silva, M; Julião, M; Gouveia, H; Sofia, C

    2012-06-01

    Nodular lymphoid hyperplasia of the gastrointestinal tract is characterized by the presence of innumerable small discrete nodules involving a variable segment of the gastrointestinal tract. The association between nodular lymphoid hyperplasia and other benign and malignant diseases has been clearly described, with an increased risk of gastrointestinal tumours, namely gastrointestinal lymphoma. However, the association with extraintestinal lymphoma seems extremely rare. The authors present a clinical case of a patient with nodular lymphoid hyperplasia of the small and large intestine that subsequently developed an extraintestinal lymphoma (diffuse large B-cell lymphoma).

  4. Diffuse Nodular Lymphoid Hyperplasia of the Intestine Caused by Common Variable Immunodeficiency and Refractory Giardiasis

    PubMed Central

    Choi, Jung Hye; Han, Dong Soo; Kim, Jieun; Yi, Kijong; Oh, Young-Ha; Kim, Yongsoo

    2017-01-01

    Diffuse nodular lymphoid hyperplasia of the gastrointestinal tract is a rare disease characterized by numerous small polypoid nodules in the small intestine, large intestine, or both. It is associated with immunodeficiency and infection, such as Giardia lamblia and Helicobacter pylori. Although diffuse nodular lymphoid hyperplasia associated with common variable immunodeficiency (CVID) and giardiasis is already known, a few studies have reported a regression of the lymphoid nodules after the eradication of infection. We herein describe a case of diffuse nodular lymphoid hyperplasia of the intestine associated with CVID and refractory giardiasis that markedly improved after successfully treating giardiasis. PMID:28154271

  5. Diffuse Nodular Lymphoid Hyperplasia of the Intestine Caused by Common Variable Immunodeficiency and Refractory Giardiasis.

    PubMed

    Choi, Jung Hye; Han, Dong Soo; Kim, Jieun; Yi, Kijong; Oh, Young-Ha; Kim, Yongsoo

    2017-01-01

    Diffuse nodular lymphoid hyperplasia of the gastrointestinal tract is a rare disease characterized by numerous small polypoid nodules in the small intestine, large intestine, or both. It is associated with immunodeficiency and infection, such as Giardia lamblia and Helicobacter pylori. Although diffuse nodular lymphoid hyperplasia associated with common variable immunodeficiency (CVID) and giardiasis is already known, a few studies have reported a regression of the lymphoid nodules after the eradication of infection. We herein describe a case of diffuse nodular lymphoid hyperplasia of the intestine associated with CVID and refractory giardiasis that markedly improved after successfully treating giardiasis.

  6. Nodular lymphoid hyperplasia: A marker of low-grade inflammation in irritable bowel syndrome?

    PubMed Central

    Piscaglia, Anna Chiara; Laterza, Lucrezia; Cesario, Valentina; Gerardi, Viviana; Landi, Rosario; Lopetuso, Loris Riccardo; Calò, Giovanni; Fabbretti, Giovanna; Brisigotti, Massimo; Stefanelli, Maria Loredana; Gasbarrini, Antonio

    2016-01-01

    AIM To evaluate the prevalence of nodular lymphoid hyperplasia (NLH) in adult patients undergoing colonoscopy and its association with known diseases. METHODS We selected all cases showing NLH at colonoscopy in a three-year timeframe, and stratified them into symptomatic patients with irritable bowel syndrome (IBS)-type symptoms or suspected inflammatory bowel disease (IBD), and asymptomatic individuals undergoing endoscopy for colorectal cancer screening. Data collection included medical history and final diagnosis. As controls, we considered all colonoscopies performed for the aforementioned indications during the same period. RESULTS One thousand and one hundred fifty colonoscopies were selected. NLH was rare in asymptomatic individuals (only 3%), while it was significantly more prevalent in symptomatic cases (32%). Among organic conditions associated with NLH, the most frequent was IBD, followed by infections and diverticular disease. Interestingly, 31% of IBS patients presented diffuse colonic NLH. NLH cases shared some distinctive clinical features among IBS patients: they were younger, more often female, and had a higher frequency of abdominal pain, bloating, diarrhoea, unspecific inflammation, self-reported lactose intolerance and metal contact dermatitis. CONCLUSION About 1/3 of patients with IBS-type symptoms or suspected IBD presented diffuse colonic NLH, which could be a marker of low-grade inflammation in a conspicuous subset of IBS patients. PMID:28028368

  7. Genetics Home Reference: multiple sclerosis

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions multiple sclerosis multiple sclerosis Enable ...

  8. Nodular Fasciitis of the Orbit: A Case Report Confirmed by Molecular Cytogenetic Analysis.

    PubMed

    Anzeljc, Andrew J; Oliveira, Andre M; Grossniklaus, Hans E; Kim, Hee Joon; Hayek, Brent

    2016-02-12

    Nodular fasciitis is a benign fibroblastic proliferation typically found in the subcutaneous tissue or superficial fascia of the extremities that is often confused for malignancy. These lesions rarely occur on the eyelids and ocular adnexa and are seldom analyzed by ophthalmic pathologists. USP6 gene rearrangement has been recently demonstrated in nodular fasciitis and this rearrangement may lead to the formation of a fusion gene MYH9-USP6 in some cases. Herein, the authors describe a 38-year-old woman with a 6-month history of a progressively enlarging mass beneath her right medial upper eyelid. Histopathologic analysis of the excisional biopsy confirmed classic features of nodular fasciitis. Molecular cytogenetic analysis revealed a rearrangement of the USP6 locus, confirming the diagnosis of benign nodular fasciitis.

  9. Nodular graphite formation in vacuum melted high purity Fe-C-Si alloys

    NASA Astrophysics Data System (ADS)

    Dhindaw, B.; Verhoeven, J. D.

    1980-06-01

    This paper describes a study of the cast structure of vacuum melted high purity Fe-C-Si alloys with emphasis on hypoeutectic and eutectic compositions. Nodular graphite was observed to form at high cooling rates and coral graphite at low cooling rates. This result was also confirmed by a limited study on directional solidification of alloys prepared from the same starting materials. The formation of nodular graphite at the high cooling rates was suppressed to near zero by changing the starting iron from 99.94 pct electrolytic iron to an ultra-pure zone refined iron, or by holding the melt at a low super-heat prior to cooling. Chemical analysis showed only that the impurity responsible for nodular formation was present at the low ppm level. An attempt is made to explain the appearance of the various microstructures in terms of the nucleation and growth of nodular graphite, coral graphite and the carbide structure of white iron.

  10. Intra-muscular Nodular Fasciitis Presenting as Swelling in Neck: Challenging Entity for Diagnosis.

    PubMed

    Sinhasan, Sankappa P; K V, Bharathi; Bhat, Ramachandra V; Hartimath, Basavanandaswamy C

    2014-01-01

    The diagnosis of Nodular Fasciitis is a very challenging on cytological aspirations. Even in histopathological sections, it can be sometimes be mistaken for soft tissue sarcomas due to its high cellularity, presence of mitotic figures, poor circumscription and degenerative myxoid areas. Most commonly, nodular fasciitis is seen on extremities; and sub-cutaneous form is most common. We are hereby reporting a case of nodular fasciitis at a rare site (head and neck area) in its rare form (intra-muscular type: originating within sternocleidomastoid muscle), which was clinically suspected as a malignancy arising from solitary thyroid nodule. Cytological diagnosis was issued as benign spindle cell lesion (where chances of a misdiagnosis as malignant are very high), thereby preventing radical surgery. It was subsequently confirmed as intra-muscular nodular fasciitis after histopathological examination.

  11. The role of radioiodine therapy in benign nodular goitre.

    PubMed

    Bonnema, Steen Joop; Fast, Søren; Hegedüs, Laszlo

    2014-08-01

    For treatment of benign nodular goitre the choice usually stands between surgery and (131)I therapy. (131)I therapy, used for 30 years for this condition, leads to a goitre volume reduction of 35-50% within 1-2 years. However, this treatment has limited efficacy if the thyroid (131)I uptake is low or if the goitre is large. Recombinant human TSH (rhTSH)-stimulated (131)I therapy significantly improves goitre reduction, as compared with conventional (131)I therapy without pre-stimulation, and adverse effects are few with rhTSH doses of 0.1 mg or lower. RhTSH-stimulated (131)I therapy reduces the need for additional therapy due to insufficient goitre reduction, but the price is a higher rate of hypothyroidism. Another approach with rhTSH-stimulation is to reduce the administered (131)I activity by a factor that equals the increase in the thyroid (131)I uptake. Using this approach, radiation exposure is considerably reduced while the goitre reduction is similar to that obtained with conventional (131)I therapy.

  12. Pathogenesis of nodular goiter and its implications for surgical management

    SciTech Connect

    Teuscher, J.; Peter, H.J.; Gerber, H.; Berchtold, R.; Studer, H.

    1988-01-01

    Despite sufficient iodine supply, goiter continues to be of considerable surgical significance in formerly endemic countries. It now appears that iodine deficiency and increased thyrotropin stimulation are not the only causes of goiter. Xenotransplantation of human thyroid tissue onto nude mice allowed study of the regulation of growth and function in human goiter tissue. Grafts of human thyroid tissue growing in nude mice could be shown to react to endogenous mouse thyrotropic stimulation and suppression. /sup 131/I autoradiographs of xenotransplanted goiter tissue showed as marked a heterogeneity as did the original goitrous tissue prior to transplantation. There was no firm correlation between the morphologic appearance of a follicle and its iodine metabolism. Scintigraphically cold and hot goiter tissue differed from each other quantitatively but not qualitatively; i.e., both hot and cold tissue were composed of metabolically active and nonactive follicles. Iodine organification was not completely suppressible by thyroxine treatment; this indicates autonomous functional activity. The distribution of proliferating tissue labeled by /sup 3/H-thymidine did not parallel the distribution of functionally active tissue labelled by /sup 131/I. Thyroxine treatment did not completely inhibit /sup 3/H-thymidine incorporation, indicating autonomous growth. Thus, our pathogenetic concept of goiter formation is based on three mainstays: (1) goiter heterogeneity, (2) autonomy of growth and function, and (3) dissociation of growth and function in human goiter tissue. Thus, the surgeon dealing with goiter ought to remove all pathologically altered tissue, i.e., nodular tissue, irrespective of its appearance on scintiscans.

  13. Focal nodular hyperplasia of the liver following hematopoietic SCT.

    PubMed

    Sudour, H; Mainard, L; Baumann, C; Clement, L; Salmon, A; Bordigoni, P

    2009-01-01

    Incidental hepatic regenerating nodules rarely occur after haematopoietic SCT (HSCT). Focal nodular hyperplasia (FNH) is one of these unusual benign tumors with characteristic imaging features. To determine the incidence and the outcome of FNH of the liver and improve the understanding of its pathogenesis, we prospectively surveyed a total of 138 patients who had undergone serial prospective pre- and post-transplantation evaluations of iron biomarkers, including ferritin and liver iron concentration assessed by magnetic resonance imaging (MRI). Seventeen patients with a median delay of 6.4 years (2.2-13.6) developed FNH of the liver. All were children at the time of transplantation. MR images were typical for FNH in 16 patients; only one patient needed a confirmatory biopsy. Sixteen had received a myeloablative conditioning; six received a BU-based preparation and 10 TBI. Three patients experienced sinusoidal obstruction syndrome. Neither complication nor malignant transformation has been reported to date. FNH of the liver seems to be a frequent delayed benign complication following HSCT, probably of iatrogenic vascular origin. Basic clinical and diagnostic imaging follow-up is warranted.

  14. Tau, phospho-tau, and S-100B in the cerebrospinal fluid of children with multiple sclerosis.

    PubMed

    Rostasy, Kevin; Withut, Esther; Pohl, Daniela; Lange, Peter; Ciesielcyk, Barbara; Diem, Ricarda; Gärtner, Jutta; Otto, Markus

    2005-10-01

    Axonal injury and glial activation are an early neuropathologic event in adults with multiple sclerosis. To investigate whether markers of axonal injury and glial activation are already elevated in the cerebrospinal fluid of children with multiple sclerosis, we studied the cerebrospinal fluid of 25 children with multiple sclerosis and 67 controls for the presence of tau, phospho-tau, and S-100B proteins using specific enzyme-linked immunoabsorbent assays. In general, tau, phospho-tau, and S-100B protein levels did not differ significantly between groups. However, in a subgroup of nine children with multiple sclerosis, all of whom had prominent clinical symptoms at the time of lumbar puncture and radiologic disease activity, tau protein levels were significantly elevated when compared with other controls. These data indicate that axonal injury is not restricted to adult multiple sclerosis but can already occur in children with multiple sclerosis.

  15. How I manage pulmonary nodular lesions and nodular infiltrates in patients with hematologic malignancies or undergoing hematopoietic cell transplantation.

    PubMed

    Wingard, John R; Hiemenz, John W; Jantz, Michael A

    2012-08-30

    Pulmonary nodules and nodular infiltrates occur frequently during treatment of hematologic malignancies and after hematopoietic cell transplantation. In patients not receiving active immunosuppressive therapy, the most likely culprits are primary lung cancer, chronic infectious or inactive granulomata, or even the underlying hematologic disease itself (especially in patients with lymphoma). In patients receiving active therapy or who are otherwise highly immunosuppressed, there is a wider spectrum of etiologies with infection being most likely, especially by bacteria and fungi. Characterization of the pulmonary lesion by high-resolution CT imaging is a crucial first diagnostic step. Other noninvasive tests can often be useful, but invasive testing by bronchoscopic evaluation or acquisition of tissue by one of several biopsy techniques should be performed for those at risk for malignancy or invasive infection unless contraindicated. The choice of the optimal biopsy technique should be individualized, guided by location of the lesion, suspected etiology, skill and experience of the diagnostic team, procedural risk of complications, and patient status. Although presumptive therapy targeting the most likely etiology is justified in patients suspected of serious infection while evaluation proceeds, a structured evaluation to determine the specific etiology is recommended. Interdisciplinary teamwork is highly desirable to optimize diagnosis and therapy.

  16. Characterization of the Microenvironment of Nodular Lymphocyte Predominant Hodgkin Lymphoma

    PubMed Central

    Visser, Lydia; Wu, Rui; Rutgers, Bea; Diepstra, Arjan; van den Berg, Anke

    2016-01-01

    Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is characterized by a low percentage of neoplastic lymphocyte predominant (LP) cells in a background of lymphocytes. The goal of this study is to characterize the microenvironment in NLPHL. Ten NLPHL cases and seven reactive lymph nodes (RLN) were analyzed by flow cytometry for the main immune cells and multiple specific subpopulations. To discriminate between cells in or outside the tumor cell area, we used CD26. We observed significantly lower levels of CD20+ B-cells and CD56+ NK cells and higher levels of CD4+ T-cells in NLPHL in comparison to RLN. In the subpopulations, we observed increased numbers of PD-1+CD4+ T follicular helper cells (TFH), CD69+CD4+ and CD69+CD8+ T-cells and CCR7-CD45RA-CD4+ effector memory T-cells, while FoxP3+CD4+ T regulatory cells (Tregs) and CCR7-CD45RA+ terminally differentiated CD4+ T-cells were decreased in NLPHL compared to RLN. CD69+ cells were increased in the tumor cell area in CD4+ and CD8+ T-cells, while FoxP3+CD25+CD4+ Tregs and CD25+CD8+ T-cells were significantly increased outside the tumor area. Thus, we show a markedly altered microenvironment in NLPHL, with lower numbers of NK cells and Tregs. PD-1+CD4+ and CD69+ T-cells were located inside, and Tregs and CD25+CD8+ cells outside the tumor cell area. PMID:27999289

  17. Thyroid nodularity and cancer among Chernobyl cleanup workers from Estonia

    SciTech Connect

    Inskip, P.D.; Boice, J.D. Jr.; Tekkel, M.

    1997-02-01

    Thyroid examinations, including palpation, ultrasound and, selectively, fine-needle aspiration biopsy, were conducted on nearly 2,000 Chernobyl cleanup workers from Estonia to evaluate the occurrence of thyroid cancer and nodular thyroid disease among men with protracted exposure to ionizing radiation. The examinations were conducted in four cities in Estonia during March-April 1995, 9 years after the reactor accident. The study population was selected from a predefined cohort of 4,833 cleanup workers from Estonia under surveillance for cancer incidence. These men had been sent to Chernobyl between 1986 and 1991 to entomb the damaged reactor, remove radioactive debris and perform related cleanup activities. A total of 2,997 men were invited for thyroid screening and 1,984 (66%) were examined. Estimates of radiation dose from external sources were obtained from military or other institutional records, and details about service dates and types of work performed while at Chernobyl were obtained from a self-administered questionnaire. Blood samples were collected for assay of chromosomal translocations in circulating lymphocytes and loss of expression of the glycophorin A (GPA) gene in erythrocytes. The primary outcome measure was the presence or absence of thyroid nodules as determined by the ultrasound examination. Of the screened workers, 1,247 (63%) were sent to Chernobyl in 1986, including 603 (30%) sent in April or May, soon after the accident. Workers served at Chernobyl for an average of 3 months. The average age was 32 years at the time of arrival at Chernobyl and 40 years at the time of thyroid examination. The mean documented radiation dose from external sources was 10.8 cGy. Biological indicators of exposure showed low correlations with documented dose, but did not indicate that the mean dose for the population was higher than the average documented dose. 47 refs., 1 fig., 9 tabs.

  18. Determinants of Employment Status among People with Multiple Sclerosis.

    ERIC Educational Resources Information Center

    Roessler, Richard T.; Fitzgerald, Shawn M.; Rumrill, Phillip D.; Koch, Lynn C.

    2001-01-01

    Identifies factors predicting employment or lack thereof among adults with multiple sclerosis (MS). Results included the following variables as the best predictors of employment: symptom persistence, severity of symptoms, educational attainment, and presence of cognitive limitations. The relevance of the findings for rehabilitation assessment and…

  19. Outcome analysis of high-dose chemotherapy and autologous stem cell transplantation in adolescent and young adults with relapsed or refractory Hodgkin lymphoma.

    PubMed

    Akhtar, Saad; Rauf, Shahzad M; Elhassan, Tusneem A M; Maghfoor, Irfan

    2016-09-01

    High-dose chemotherapy (HDC) and autologous stem cell transplantation (auto-SCT) can salvage many patients with relapsed or refractory Hodgkin's lymphoma (HL). We are reporting the outcome of HDC auto-SCT and the impact of 21 prognostic factors in relapsed and refractory adolescent (14-21 years) and young adult (>21-30 years) (AYA) HL patients. We used Fine and Gray's competing risk analysis method and regression model for outcome analysis. From 1996 to 2013, 290 consecutive patients with biopsy-proven HL underwent HDC auto-SCT for relapsed/refractory HL; 216 patients (74.5 %) were AYA at the time of auto-SCT. Male/female were equal, median age at auto-SCT was 22.4 years, and there were 94 adolescent (43.5 %) and 122 young adults (56.5 %). There was refractory disease in 121 (56 %) patients, relapsed in 95 (44 %). Median follow-up was 72.6 months. The Kaplan-Meier method estimated that 5-year overall survival is 62.7 % (adolescents (63.5 %), young adults (62 %)) and event-free survival was 51.3 %. Five-year cumulative incidence of disease-specific death (DS-death) is 33 % and that of DS-event is 45 %. For DS-death, the multivariate analysis identified complete remission (CR) duration of <12 months (hazard ratio (HR) 3.61, P = 0.0009), no CR after salvage (HR: 3.93, P = 0.0002), and nodular sclerosis pathology (HR 3.3, P = 0.016) and positive B symptoms (HR 2, P = 0.028) as negative factors. For DS-event, CR duration of <12 months (HR 1.88, P = 0.02), no CR after salvage (HR 3.47, P = 0.000005) and nodular sclerosis pathology (HR 1.88, P = 0.02) were found significant. The Kaplan-Meier method estimated overall survival (OS) at 36 months with 0-2:3:4 factors being 93.6:54:21 %, respectively (P value <0.001). Kaplan-Meier estimated event-free survival (EFS) at 36 months with 0-1:2:3 factors being 84.6:65:31 %, respectively (P value <0.001). Clinically, adolescents have similar outcomes as young adults.

  20. Regressive systemic sclerosis.

    PubMed Central

    Black, C; Dieppe, P; Huskisson, T; Hart, F D

    1986-01-01

    Systemic sclerosis is a disease which usually progresses or reaches a plateau with persistence of symptoms and signs. Regression is extremely unusual. Four cases of established scleroderma are described in which regression is well documented. The significance of this observation and possible mechanisms of disease regression are discussed. Images PMID:3718012

  1. Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis.

    PubMed

    Vercruysse, Pauline; Sinniger, Jérôme; El Oussini, Hajer; Scekic-Zahirovic, Jelena; Dieterlé, Stéphane; Dengler, Reinhard; Meyer, Thomas; Zierz, Stephan; Kassubek, Jan; Fischer, Wilhelm; Dreyhaupt, Jens; Grehl, Torsten; Hermann, Andreas; Grosskreutz, Julian; Witting, Anke; Van Den Bosch, Ludo; Spreux-Varoquaux, Odile; Ludolph, Albert C; Dupuis, Luc

    2016-04-01

    Amyotrophic lateral sclerosis, the most common adult-onset motor neuron disease, leads to death within 3 to 5 years after onset. Beyond progressive motor impairment, patients with amyotrophic lateral sclerosis suffer from major defects in energy metabolism, such as weight loss, which are well correlated with survival. Indeed, nutritional intervention targeting weight loss might improve survival of patients. However, the neural mechanisms underlying metabolic impairment in patients with amyotrophic lateral sclerosis remain elusive, in particular due to the lack of longitudinal studies. Here we took advantage of samples collected during the clinical trial of pioglitazone (GERP-ALS), and characterized longitudinally energy metabolism of patients with amyotrophic lateral sclerosis in response to pioglitazone, a drug with well-characterized metabolic effects. As expected, pioglitazone decreased glycaemia, decreased liver enzymes and increased circulating adiponectin in patients with amyotrophic lateral sclerosis, showing its efficacy in the periphery. However, pioglitazone did not increase body weight of patients with amyotrophic lateral sclerosis independently of bulbar involvement. As pioglitazone increases body weight through a direct inhibition of the hypothalamic melanocortin system, we studied hypothalamic neurons producing proopiomelanocortin (POMC) and the endogenous melanocortin inhibitor agouti-related peptide (AGRP), in mice expressing amyotrophic lateral sclerosis-linked mutant SOD1(G86R). We observed lower Pomc but higher Agrp mRNA levels in the hypothalamus of presymptomatic SOD1(G86R) mice. Consistently, numbers of POMC-positive neurons were decreased, whereas AGRP fibre density was elevated in the hypothalamic arcuate nucleus of SOD1(G86R) mice. Consistent with a defect in the hypothalamic melanocortin system, food intake after short term fasting was increased in SOD1(G86R) mice. Importantly, these findings were replicated in two other amyotrophic

  2. Upregulation of TSHR, TTF-1, and PAX8 in Nodular Goiter Is Associated with Iodine Deficiency in the Follicular Lumen

    PubMed Central

    Chen, Lijun; Liang, Bo; Cai, Huiyao; Cai, Qingyan; Shi, Yaxiong

    2016-01-01

    Objective. It has been testified that iodine regulates thyroid function by controlling thyroid-restricted genes expression and is closely related to diffuse goiter and thyroid dysfunction. However, the effects of follicular lumen iodine, the main form of iodine reserve in the body, on thyroid-restricted genes in nodular goiter are poorly understood. In this study, correlations between follicular lumen iodine and the expressions of thyroid stimulating hormone receptor (TSHR), its transcription factors TTF-1, and PAX8 in nodular goiter were investigated. Patients. In this study, 30 resection specimens clinically histopathologically confirmed to have nodular goiter and 30 normal thyroid specimens from adjacent tissues of nodular goiter are used. Measurement. Western blot immunohistochemistry was performed to assay TSHR, TTF-1, and PAX8 in thyrocytes of nodular goiter as well as in extranodular normal thyroid tissues. Meanwhile, follicular lumen iodine of both nodular goiter and extranodular normal thyroid tissues was detected as well. Results. The TSHR, TTF-1, and PAX8 in nodular goiter were significantly higher than those in the controls. The iodine content in nodular goiter was significantly lower than those in control tissues. Conclusion. Upregulation of TSHR, TTF-1, and PAX8 is associated with low follicular lumen iodine content in nodular goiter. PMID:27525008

  3. Genetic and non-iodine-related factors in the aetiology of nodular goitre.

    PubMed

    Knudsen, Nils; Brix, Thomas Heiberg

    2014-08-01

    Genetic and a large number of environmental non-iodine-related factors play a role in the cause of nodular goitre. Most evidence for the influence of genetic and environmental factors in the cause of goitre is from cross-sectional, population-based studies. Only a few studies have included prospective data on risk factors for nodular goitre, although few prospective data are available on the effect of iodine and tobacco smoking on goitre development. Goitre is not one single phenotype. Many epidemiological studies do not distinguish diffuse from nodular goitre, as the investigated parameter is often thyroid volume or frequency with increased thyroid volume. Moreover, information on the presence and effect of gene-environment, gene-gene, and environment-environment effect modifications is limited. Thus, firm conclusions about the relative contributions and causality of the investigated risk factors should be made with caution. Smoking seems to be an established risk factor for nodular goitre, possibly with effect modification from iodine intake, as the risk associated with smoking is smaller or absent in areas with sufficient iodine intake. The use of oral contraceptives might have protective effects against goitre, and childbirth is an increased risk factor for goitre in areas with non-optimal iodine intake. Insulin resistance is a recently investigated risk factor, and the risk of goitre may be reversible with metformin treatment. Iodine remains the major environmental risk factor for nodular goitre.

  4. Genetics Home Reference: juvenile primary lateral sclerosis

    MedlinePlus

    ... primary lateral sclerosis, juvenile Merck Manual Consumer Version: Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases Patient Support and ... domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001 Oct;29(2):160-5. ...

  5. Tuberous sclerosis and parathyroid adenoma.

    PubMed Central

    Mortensen, L S; Rungby, J

    1991-01-01

    Very little is known about the pathogenesis of tuberous sclerosis. Over the past 10 years, however, increasing numbers of reports on adenomatous diseases in association with tuberous sclerosis have been published. A case of hypercalcaemia and parathyroid adenoma in association with tuberous sclerosis is presented, of which there has been one such report published previously. This association might be another manifestation of this complex disease: it is therefore recommended that plasma calcium concentrations should be measured in such patients. PMID:1752991

  6. [Future challenges in multiple sclerosis].

    PubMed

    Fernández, Óscar

    2014-12-01

    Multiple sclerosis occurs in genetically susceptible individuals, in whom an unknown environmental factor triggers an immune response, giving rise to a chronic and disabling autoimmune disease. Currently, significant progress is being made in our knowledge of the frequency and distribution of multiple sclerosis and its risk factors, genetics, pathology, pathogenesis, diagnostic and prognostic markers, and treatment. This has radically changed patients' and clinicians' expectations of multiple sclerosis and has raised hope that there will soon be a way to control the disease.

  7. Amyotrophic Lateral Sclerosis Research Program

    DTIC Science & Technology

    2010-08-01

    U.S. Army Medical Research and Materiel Command Amyotrophic Lateral Sclerosis Research Program Report Documentation Page Form ApprovedOMB No. 0704...to 00-00-2010 4. TITLE AND SUBTITLE Amyotrophic Lateral Sclerosis Research Program 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT...research programs such as the Amyotrophic Lateral Sclerosis Research Program (ALSRP) is allo- cated via specific guidance from Congress. Proposal

  8. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

    PubMed

    Weisfeld-Adams, James D; Katz Sand, Ilana B; Honce, Justin M; Lublin, Fred D

    2015-03-01

    Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis.

  9. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

    PubMed Central

    Katz Sand, Ilana B.; Honce, Justin M.; Lublin, Fred D.

    2015-01-01

    Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of a single-gene disorder as causal for a patient’s ‘multiple sclerosis-like’ phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. PMID:25636970

  10. The importance of a proper selection area to be biopsied in nodular leukoplakia: a case report.

    PubMed

    Pagin, Otávio; Santos, Paulo Sérgio da Silva; Del Neri, Nathalia Bigelli; Gustavo de Lima, Heliton; Lara, Vanessa Soares

    2014-03-01

    Nodular leukoplakia is a non-homogeneous type of oral leukoplakia presenting a white surface with verrucous, nodular, ulcerated or erythematous features with a greater risk of malignant transformation when compared to the homogeneous type. Common sites of involvement include lip commissures, buccal mucosa and soft palate. It is often associated with epithelial dysplasia or carcinoma and requires detailed microscopic assessment and regular follow-up. The importance of a proper selection of the area to be biopsied and the close teamwork between a dentist and oral pathologist is the basis of providing an accurate final diagnosis.

  11. Transcatheter Arterial Embolization as a Safe and Effective Treatment for Focal Nodular Hyperplasia of the Liver

    SciTech Connect

    Terkivatan, Tuerkan; Hussain, Shahid M.; Lameris, Johan S.; Ijzermans, Jan N.M.

    2002-10-15

    When surgical treatment is being considered for focal nodular hyperplasia, the risk of liver surgery must be carefully balanced against the benefit of resection, especially in the case of a large or centrally located lesion. However, when resection is contraindicated or even impossible, transcatheter arterial embolization should be considered as a safe and less invasive alternative treatment.We describe two cases of young women who presented with abdominal pain and a hypervascular enhancing mass with the radiologic features of focal nodular hyperplasia. Arterial embolization was the therapy selected due to the risk of surgery. In both cases the procedure was successful, and the lesion showed shrinkage during follow-up.

  12. Nodular cystic fat necrosis with calcification in a patient with juvenile dermatomyositis.

    PubMed

    Ferenczi, Katalin; Berke, Adrienne; Makkar, Hanspaul S

    2014-01-01

    Nodular cystic fat necrosis is a rare, benign form of encapsulated fat necrosis with distinct histology, characterized by cystic fat necrosis with lipomembranous changes and, in later stages, calcification. We report the case of a 7-year-old child with juvenile dermatomyositis who presented with three asymptomatic, firm, mobile nodules on the arms and neck. Histology was consistent with nodular cystic fat necrosis with prominent calcification. This is an unusual presentation of this entity because it has never been previously reported in association with juvenile dermatomyositis.

  13. Amyotrophic lateral sclerosis.

    PubMed

    Malik, Rabia; Lui, Andrew; Lomen-Hoerth, Catherine

    2014-11-01

    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting 20,000 to 30,000 people in the United States. The mainstay of care of patients affected by this disease is supportive and given the multifaceted nature of their needs is provided most efficiently through multidisciplinary clinics that have shown to prolong survival and improve quality of life. The authors discuss in detail evidence-based management of individuals affected by this condition.

  14. Conjugal amyotrophic lateral sclerosis

    PubMed Central

    Dewitt, John D.; Kwon, Julia; Burton, Rebecca

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a disease characterized by progressive degeneration of motor neurons in the motor cortex, brainstem, and spinal cord. The incidence of sporadic ALS is 1.5 to 2.7 in 100,000, and the prevalence is 5.2 to 6.0 in 100,000. Conjugal ALS is even rarer than sporadic ALS. We report a case of conjugal ALS encountered in our outpatient neurology clinic. PMID:22275781

  15. Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.

    PubMed

    Samuels, Joshua A

    2017-03-16

    Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys, brain, heart, lungs, and skin. Tuberous sclerosis complex is usually caused by a mutation in either the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 gene, resulting in constitutive activation of mammalian target of rapamycin signaling. Currently, mammalian target of rapamycin inhibitors are recommended in adult patients with tuberous sclerosis complex for the treatment of asymptomatic, growing renal angiomyolipoma that are >3 cm in diameter and pediatric or adult patients with brain lesions (subependymal giant cell astrocytoma) that either are growing or are not amenable to surgical resection. Clinical evidence suggests that systemic administration of a mammalian target of rapamycin inhibitor may provide concurrent improvements in multiple lesions and symptoms of tuberous sclerosis complex. With the major paradigm shift in consensus guidelines toward screening at diagnosis and ongoing monitoring and with the recent availability of an effective oral treatment, it is important that nephrologists have a thorough understanding of our role in the management of patients with tuberous sclerosis complex. Because the various manifestations of tuberous sclerosis complex typically emerge at different periods during patients' lifetimes, patients will need to be followed throughout their lives. Unlike brain and cardiac lesions, renal lesions are more likely to emerge as patients age and can grow at any time. Considerations regarding long-term medication administration for the potential control of multiple tuberous sclerosis complex manifestations will need to be addressed; these include the most appropriate starting dose, appropriate doses for tumor shrinkage versus prevention of regrowth, and management of adverse events. Best practices and potential obstacles for nephrologists treating patients

  16. Multiple sclerosis in children: an update on clinical diagnosis, therapeutic strategies, and research

    PubMed Central

    Waldman, Amy; Ghezzi, Angelo; Bar-Or, Amit; Mikaeloff, Yann; Tardieu, Marc; Banwell, Brenda

    2015-01-01

    The clinical features, diagnostic challenges, neuroimaging appearance, therapeutic options, and pathobiological research progress in childhood—and adolescent—onset multiple sclerosis have been informed by many new insights in the past 7 years. National programmes in several countries, collaborative research efforts, and an established international paediatric multiple sclerosis study group have contributed to revised clinical diagnostic definitions, identified clinical features of multiple sclerosis that differ by age of onset, and made recommendations regarding the treatment of paediatric multiple sclerosis. The relative risks conveyed by genetic and environmental factors to paediatric multiple sclerosis have been the subject of several large cohort studies. MRI features have been characterised in terms of qualitative descriptions of lesion distribution and applicability of MRI aspects to multiple sclerosis diagnostic criteria, and quantitative studies have assessed total lesion burden and the effect of the disease on global and regional brain volume. Humoral-based and cell-based assays have identified antibodies against myelin, potassium-channel proteins, and T-cell profiles that support an adult-like T-cell repertoire and cellular reactivity against myelin in paediatric patients with multiple sclerosis. Finally, the safety and efficacy of standard first-line therapies in paediatric multiple sclerosis populations are now appreciated in more detail, and consensus views on the future conduct and feasibility of phase 3 trials for new drugs have been proposed. PMID:25142460

  17. Rickettsial Antibodies in Multiple Sclerosis

    PubMed Central

    Field, E. J.; Chambers, Mavis

    1970-01-01

    The serum of subjects with multiple sclerosis or other degenerative neurological diseases and that of normal controls does not differ significantly in its content of antibodies to several rickettsial antigens. There is no evidence for a rickettsial aetiology of multiple sclerosis, and no grounds for an extended clinical trial of Le Gac's full method of treatment with antibiotics. PMID:4983591

  18. Electroconvulsive Therapy in Multiple Sclerosis.

    PubMed

    Steen, Katie; Narang, Puneet; Lippmann, Steven

    2015-01-01

    We performed a literature search regarding the safety and efficacy of electroconvulsive therapy in patients with multiple sclerosis and comorbid psychiatric symptoms. Literature review was conducted via PubMed databases. Of the cases we reviewed, most subjects with multiple sclerosis reported significant psychiatric symptom relief, with only a handful reporting neurologic deterioration. There was some evidence that active white matter lesions may be predictive of neurologic deterioration when electroconvulsive therapy is used in patients with multiple sclerosis. A brief description of the pathophysiology and effects of depression in patients with multiple sclerosis is also provided. Although no clinical recommendations or meaningful conclusions can be drawn without further investigation, the literature suggests that electroconvulsive therapy for treatment of psychiatric illnesses in patients with multiple sclerosis is safe and efficacious.

  19. Nodular Scleritis in Association with Panuveitis in Behçet’s Disease

    PubMed Central

    SAATCI, Ali Osman; AYHAN, Ziya; ONEN, Fatos; OZBEK, Zeynep; DURAK, Ismet

    2016-01-01

    This case report involves a 32-year-old man with Behçet’s disease who had simultaneous bilateral anterior uveitis, unilateral nodular scleritis, and occlusive vasculitis with retinal hemorrhages. Although scleritis is not a classical feature of Behçet’s disease, a diagnosis of Behçet’s disease should be considered in patients with scleritis.

  20. Seasonal changes in nodular nitrogenase activity of Alnus glutinosa and Elaeagnus angustifolia.

    PubMed

    Zitzer, S F; Dawson, J O

    1989-06-01

    Root nodule development, and seasonal patterns of nodular nitrogenase and hydrogenase activities were determined for 5- to 8-year old black alder (Alnus glutinosa (L.) Gaertn.) and Russian olive (Elaeagnus angustifolia L.) interplanted with black walnut (Juglans nigra L.) on bottomland and upland sites in central Illinois, USA. Black alder produced nodules at both sites, but Russian olive did so only at the bottomland site. Nodular nitrogenase activity was detectable in both species over a 220-day period. Maximum, midday rates of nitrogenase activity (acetylene reduction) of 15 to 20 micromoles C(2)H(4) per g dry nodule per hour were maintained by black alder for approximately 150 days at both the upland and bottomland sites. Near maximum rates of nodular nitrogenase activity were maintained for a similar period by Russian olive at the lowland site, although specific nitrogenase activity was approximately 25% lower than in black alder owing to a larger proportion of necrotic nodular tissue in Russian olive. In both species, nitrogenase activity increased exponentially with temperature between 10 degrees C and 20 to 25 degrees C. No net hydrogen evolution by nodules of either species was detected at any time during the assay period, indicating efficient hydrogenase systems were operating under the conditions of the field assay. Height of black walnut interplanted with nodulated black alder and Russian olive was greater than that of black walnut grown in pure stands.

  1. Soybean (Glycine max. L.) and bacteroid glyoxylate cycle activities during nodular senescence.

    PubMed

    Fargeix, Christophe; Gindro, Katia; Widmer, François

    2004-02-01

    Soybean (Glycine max. L.) nodular senescence results in the dismantling of the peribacteroid membrane (PBM) and in an increase of soybean isocitrate lyase (ICL; EC 4.1.3.1) and malate synthase (MS; EC 4.1.3.2) mRNA and protein levels. This suggests that in senescing soybean nodular cells, the specific glyoxylate cycle enzyme activities might be induced to reallocate carbon obtained from the PBM degradation. In order to evaluate as well the carbon metabolism of the nitrogen-fixing Bradyrhizobium japonicum endosymbiotic bacteroids during nodular senescence, their glyoxylate cycle activities were also investigated. To this end, partial DNA sequences were isolated from their icl and ms genes, but the corresponding mRNAs were not detected in the microorganisms. It was also observed that the bacteroid ICL and MS activities were negligible during nodular senescence. This suggests that glyoxylate cycle activities are not reinitiated in the bacteroids under these physiological conditions. In case the microorganisms nevertheless feed on the PBM degradation products, this might occur via the citric acid cycle exclusively.

  2. Animal models of disease: feline hyperthyroidism: an animal model for toxic nodular goiter.

    PubMed

    Peterson, Mark E

    2014-11-01

    Since first discovered just 35 years ago, the incidence of spontaneous feline hyperthyroidism has increased dramatically to the extent that it is now one of the most common disorders seen in middle-aged to senior domestic cats. Hyperthyroid cat goiters contain single or multiple autonomously (i.e. TSH-independent) functioning and growing thyroid nodules. Thus, hyperthyroidism in cats is clinically and histologically similar to toxic nodular goiter in humans. The disease in cats is mechanistically different from Graves' disease, because neither the hyperfunction nor growth of these nodules depends on extrathyroidal circulating stimulators. The basic lesion appears to be an excessive intrinsic growth capacity of some thyroid cells, but iodine deficiency, other nutritional goitrogens, or environmental disruptors may play a role in the disease pathogenesis. Clinical features of feline toxic nodular goiter include one or more palpable thyroid nodules, together with signs of hyperthyroidism (e.g. weight loss despite an increased appetite). Diagnosis of feline hyperthyroidism is confirmed by finding the increased serum concentrations of thyroxine and triiodothyronine, undetectable serum TSH concentrations, or increased thyroid uptake of radioiodine. Thyroid scintigraphy demonstrates a heterogeneous pattern of increased radionuclide uptake, most commonly into both thyroid lobes. Treatment options for toxic nodular goiter in cats are similar to that used in humans and include surgical thyroidectomy, radioiodine, and antithyroid drugs. Most authorities agree that ablative therapy with radioiodine is the treatment of choice for most cats with toxic nodular goiter, because the animals are older, and the disease will never go into remission.

  3. In Situ fracture observation and fracture toughness analysis of pearlitic graphite cast irons with different nodularity

    NASA Astrophysics Data System (ADS)

    Han, Seung Youb; Sohn, Seok Su; Shin, Sang Yong; Lee, Sunghak; Suh, Yong Chan

    2013-07-01

    Effects of microstructural modification and microfracture mechanisms on fracture toughness of pearlitic graphite cast irons with different nodularity were investigated by in situ observation of microfracture process. Six pearlitic graphite cast irons were fabricated by adding a small amount of Mg as a nodularizing element for graphite, and their microstructures including pearlite, ferrite, graphite, and eutectic carbide were analyzed. Most of ferrites were observed in a layer shape around graphites because of carbon-depleted zones formed near graphites. As the nodularity and nodule count increased, fracture toughness linearly increased in the cast irons except the iron containing many fine graphites. According to in situ observation of microfracture process, cracks initiated at nodular graphites and carbides even at a small load, and then propagated readily through the adjacent graphites or carbides, thereby resulting in the lowest fracture toughness. The cast iron having widely spaced graphites and ferrite layers thickly formed around graphites showed the highest fracture toughness because of the blocking of crack propagation by ductile ferrite layers and the crack blunting and deflection by graphites, which was also confirmed by the R-curve analysis.

  4. Mycobacterium species related to M. leprae and M. lepromatosis from cows with bovine nodular thelitis.

    PubMed

    Pin, Didier; Guérin-Faublée, Véronique; Garreau, Virginie; Breysse, Franck; Dumitrescu, Oana; Flandrois, Jean-Pierre; Lina, Gerard

    2014-12-01

    Bovine nodular thelitis is a granulomatous dermatitis associated with infection with acid-fast bacteria. To identify the mycobacterium responsible for this infection, we conducted phylogenetic investigations based on partial sequencing of 6 genes. These bacteria were identified as an undescribed Mycobacterium species that was phylogenetically related to M. leprae and M. lepromatosis.

  5. [Imaging of chronic hip pain in adults].

    PubMed

    Chevrot, A; Drapé, J; Godefroy, D; Dupont, A

    2000-03-01

    Adult hip pathologies are mainly represented by the degenerative disease, so called "osteoarthrosis, or more precisely coxarthrosis". The means of imaging are exposed, according to their specific value: X Rays (measurement of the characteristic angles of the adult hip), Arthrography, CT Scanner, Arthro-CT Scanner, MRI, Bone Scintigraphy, Ultrasonography. Clinical findings differentiate a mechanical syndrome and an inflammatory syndrome. The coxarthrosis is the most frequent, under two forms: primary (idiopathic) coxarthrosis and secondary coxarthrosis. Primary (idiopathic) coxarthrosis has a localised narrowing of the joint space, osteophyte formation, subchondral sclerosis, cyst formation. The destruction progresses slowly, in 10 to 15 years leading to a complete destruction. Bilaterality is frequent. it is treated with total hip prosthesis. There is a rapid form (1 to 2 years) (Postel's Disease). Secondary coxarthrosis occurs after architectural vice, chondral diseases, lack of balance between the size of the head and the acetabulum as in the case of previous fracture or dislocation, avascular bone necrosis of the head of the femur, Paget's disease. Calcium pyrophosphate Deposition disease (CPPD) involves mostly aged women, and also leads to cox-arthrosis. Avascular bone necrosis of the head of the femur involves young adults. Bilateral involvement are frequent. MRI is the most sensitive and the most specific means of early diagnosis, The area of bone necrosis appears as well defined modifications of the upper head of the femur, precisely surrounded by a low signal intensity line on both Ti and T2 weighted imaging. MRI shows articular effusion, bone marrow edema. Scintigraphy gives early findings which are a characteristic, but non specific, hot spot. CT scanner is used for hip destruction evaluation. o Algodystrophy: transient osteoporosis of the hip has a cyclic course, lasting 3 to 9 months. MRI shows an inflammatory pattern in the area of the process(dark in

  6. Distinct brain imaging characteristics of autoantibody-mediated CNS conditions and multiple sclerosis.

    PubMed

    Jurynczyk, Maciej; Geraldes, Ruth; Probert, Fay; Woodhall, Mark R; Waters, Patrick; Tackley, George; DeLuca, Gabriele; Chandratre, Saleel; Leite, Maria I; Vincent, Angela; Palace, Jacqueline

    2017-03-01

    Brain imaging characteristics of MOG antibody disease are largely unknown and it is unclear whether they differ from those of multiple sclerosis and AQP4 antibody disease. The aim of this study was to identify brain imaging discriminators between those three inflammatory central nervous system diseases in adults and children to support diagnostic decisions, drive antibody testing and generate disease mechanism hypotheses. Clinical brain scans of 83 patients with brain lesions (67 in the training and 16 in the validation cohort, 65 adults and 18 children) with MOG antibody (n = 26), AQP4 antibody disease (n = 26) and multiple sclerosis (n = 31) recruited from Oxford neuromyelitis optica and multiple sclerosis clinical services were retrospectively and anonymously scored on a set of 29 predefined magnetic resonance imaging features by two independent raters. Principal component analysis was used to perform an overview of patients without a priori knowledge of the diagnosis. Orthogonal partial least squares discriminant analysis was used to build models separating diagnostic groups and identify best classifiers, which were then tested on an independent cohort set. Adults and children with MOG antibody disease frequently had fluffy brainstem lesions, often located in pons and/or adjacent to fourth ventricle. Children across all conditions showed more frequent bilateral, large, brainstem and deep grey matter lesions. MOG antibody disease spontaneously separated from multiple sclerosis but overlapped with AQP4 antibody disease. Multiple sclerosis was discriminated from MOG antibody disease and from AQP4 antibody disease with high predictive values, while MOG antibody disease could not be accurately discriminated from AQP4 antibody disease. Best classifiers between MOG antibody disease and multiple sclerosis were similar in adults and children, and included ovoid lesions adjacent to the body of lateral ventricles, Dawson's fingers, T1 hypointense lesions (multiple

  7. Ambulation and multiple sclerosis.

    PubMed

    Motl, Robert W

    2013-05-01

    Walking impairment is a common consequence of multiple sclerosis (MS) that can result in substantial limitations of daily activities and compromised quality of life. Walking impairment is often monitored as an indicator of disease and neurologic disability progression. The worsening of walking performance while undertaking a cognitive task underscores the role of nonmotor impairments in ambulation limitations. Walking impairment has ubiquitous and life-altering consequences, underscoring the importance of continued efforts to identify approaches to prevent and forestall this event, and to restore walking ability in persons with MS.

  8. Focal nodular hyperplasia of the liver and elevated alpha fetoprotein level in an infant with isolated hemihyperplasia.

    PubMed

    Demir, Hac Ahmet; Varan, Ali; Akçören, Zuhal; Haliloglu, Mithat; Büyükpamukcu, Münevver

    2008-10-01

    A case of focal nodular hyperplasia of the liver in a 43-day-old baby girl with isolated hemihyperplasia and elevated serum alpha-fetoprotein is presented. The child referred to our hospital with bilateral renal masses detected by prenatal and postnatal ultrasonography. A mass lesion was detected in segment 6 of liver and was diagnosed as focal nodular hyperplasia. We present this case to emphasize the presence of focal nodular hyperplasia in a patient with isolated hemihypertrophy and elevated serum alpha-fetoprotein level.

  9. Autonomic dysfunction in multiple sclerosis.

    PubMed

    Racosta, Juan Manuel; Kimpinski, Kurt; Morrow, Sarah Anne; Kremenchutzky, Marcelo

    2015-12-01

    Autonomic dysfunction is a prevalent and significant cause of disability among patients with multiple sclerosis. Autonomic dysfunction in multiple sclerosis is usually explained by lesions within central nervous system regions responsible for autonomic regulation, but novel evidence suggests that other factors may be involved as well. Additionally, the interactions between the autonomic nervous system and the immune system have generated increased interest about the role of autonomic dysfunction in the pathogenesis of multiple sclerosis. In this paper we analyze systematically the most relevant signs and symptoms of autonomic dysfunction in MS, considering separately their potential causes and implications.

  10. What causes amyotrophic lateral sclerosis?

    PubMed Central

    Martin, Sarah; Al Khleifat, Ahmad; Al-Chalabi, Ammar

    2017-01-01

    Amyotrophic lateral sclerosis is a neurodegenerative disease predominantly affecting upper and lower motor neurons, resulting in progressive paralysis and death from respiratory failure within 2 to 3 years. The peak age of onset is 55 to 70 years, with a male predominance. The causes of amyotrophic lateral sclerosis are only partly known, but they include some environmental risk factors as well as several genes that have been identified as harbouring disease-associated variation. Here we review the nature, epidemiology, genetic associations, and environmental exposures associated with amyotrophic lateral sclerosis.

  11. Loss of heterozygosity at the FLCN locus in early renal cystic lesions in dogs with renal cystadenocarcinoma and nodular dermatofibrosis.

    PubMed

    Bønsdorff, Tina B; Jansen, Johan H; Thomassen, Ragnar F; Lingaas, Frode

    2009-05-01

    Small, macroscopically visible cysts on the surface of the kidneys were observed in eight 6-8-week-old puppies diagnosed with renal cystadenocarcinoma and nodular dermatofibrosis (RCND). Histologic examination of the renal cortices in these puppies reveals numerous small cystic tubular changes. Hyperplastic change of the epithelial lining of cysts is frequently observed. By laser-capture microdissection we have sampled epithelial cells from such early renal cystic lesions in eight paternal half-sibs diagnosed with RCND. DNA was obtained from the laser-captured material, and all coding exons of the germline-mutated FLCN gene were sequenced to detect putative second hits. Samples from 31 independent hyperplastic epithelial cell sections of tubular microcysts of the RCND siblings were examined as well as normal control samples of the tissue sections. Loss of heterozygosity was detected in 35% of the transformed samples. The frequently observed loss of heterozygosity at the FLCN locus in atypical epithelial cells lining the cysts suggests that loss of heterozygosity/function of the FLCN gene may contribute to neoplastic transformation of renal epithelial cells at a very early age of RCND-affected dogs. The transformed renal epithelial cells seem to grow slowly in young puppies, which indicates that other mutational events are required for the development of tumors in adult dogs.

  12. Major depression and multiple sclerosis - a case report.

    PubMed

    Moore, S

    2013-09-15

    Multiple Sclerosis (MS) is a chronic and disabling disease with a considerable social impact and economic consequences. In Europe, it is the most common cause of non-traumatic disability in young adults. Existing therapies that target immune modulation are largely ineffective in halting the progression of the disease and are fraught with severe side effects. Therefore, managing the comorbidities of MS is of utmost importance for long-term patient care and quality of life.

  13. Chronic hypothermia in multiple sclerosis.

    PubMed Central

    Sullivan, F; Hutchinson, M; Bahandeka, S; Moore, R E

    1987-01-01

    Two patients with clinically definite multiple sclerosis presented with acute hypothermia and on recovery were found to be chronically hypothermic. Thermoregulatory studies indicated a central, hypothalamic defect which is presumed to be due to a plaque of demyelination. PMID:3612161

  14. Orofacial manifestations in tuberous sclerosis.

    PubMed

    Scully, C

    1977-11-01

    Tuberous sclerosis is a rare congenital disorder with characteristic neurologic, dermatologic, and orofacial lesions. There have been very few case reports in the dental literature. Four cases demonstrating the range of orofacial anomalies and problems in management are presented.

  15. Tuberous sclerosis: a case report.

    PubMed

    Cross, Nicola Jayne; Fung, Diane E

    2010-01-01

    Tuberous sclerosis is an inherited neurocutaneous disorder that occurs in approximately 1 in 7,500 live births. It is characterized by benign neoplasms of the skin, heart, kidneys, lungs, central nervous system, and mucosa. Oral lesions are usually fibrous in nature and most commonly occur on the anterior gingivae. Patients may suffer with epilepsy and learning difficulties, which may complicate dental management. When a 10-year-old girl with a history of tuberous sclerosis was brought in for a routine dental check-up, a leafy growth on the anterior gingiva was detected. An excisional biopsy was carried out. Histologically, the appearance was described as nonspecific, but was consistent with a diagnosis of tuberous sclerosis. Tuberous sclerosis is a rare condition that may exhibit oral manifestations. The patients may also exhibit epilepsy and learning difficulties. Dental management of affected patients may therefore be more complicated and complex.

  16. [Current therapy of multiple sclerosis].

    PubMed

    Antonio García Merino, J

    2014-12-01

    Since the introduction of interferon beta 1 b for the treatment of multiple sclerosis, there has been a progressive increase in the number of drugs available for this disease. Currently, 11 drugs have been approved in Spain, and their indications depend on specific clinical characteristics. The present article reviews these indications and also discusses other medications without official approval that have also been used in multiple sclerosis.

  17. Diffuse Muscular Pain, Skin Tightening, and Nodular Regenerative Hyperplasia Revealing Paraneoplastic Amyopathic Dermatomyositis due to Testicular Cancer.

    PubMed

    Norrenberg, Sarah; Gangji, Valérie; Del Marmol, Véronique; Soyfoo, Muhammad S

    2012-01-01

    Paraneoplastic dermatomyositis (DM) associated with testicular cancer is extremely rare. We report the case of a patient with skin tightening, polymyalgia, hypereosinophilia, and nodular regenerative hyperplasia revealing seminoma and associated paraneoplastic DM.

  18. Prognostic factors in nodular lymphomas: a multivariate analysis based on the Princess Margaret Hospital experience

    SciTech Connect

    Gospodarowicz, M.K.; Bush, R.S.; Brown, T.C.; Chua, T.

    1984-04-01

    A total of 1,394 patients with non-Hodgkin's lymphoma were treated at the Princess Margaret Hospital between January 1, 1967 and December 31, 1978. Overall actuarial survival of 525 patients with nodular lymphomas was 40% at 12 years; survival of patients with localized (Stage I and III) nodular lymphomas treated with radical radiation therapy was 58%. Significant prognostic factors defined by multivariate analysis included patient's age, stage, histology, tumor bulk, and presence of B symptoms. By combining prognostic factors, distinct prognostic groups have been identified within the overall population. Patients with Stage I and II disease, small or medium bulk, less than 70 years of age achieved 92% 12 year actuarial survival and a 73% relapse-free rate in 12 years of follow-up. These patients represent groups highly curable with irradiation.

  19. Low-Dose Involved-Field Radiotherapy as Alternative Treatment of Nodular Lymphocyte Predominance Hodgkin's Lymphoma

    SciTech Connect

    Haas, Rick L.M. Girinsky, Theo; Aleman, Berthe; Henry-Amar, Michel; Boer, Jan-Paul de; Jong, Daphne de

    2009-07-15

    Purpose: Nodular lymphocyte predominance Hodgkin's lymphoma is a very rare disease, characterized by an indolent clinical course, with sometimes very late relapses occurring in a minority of all patients. Considerable discussion is ongoing on the treatment of primary and relapsed disease. Patients and Methods: A group of 9 patients were irradiated to a dose of 4 Gy on involved areas only. Results: After a median follow-up of 37 months (range, 6-66), the overall response rate was 89%. Six patients had complete remission (67%), two had partial remission (22%), and one had stable disease (11%). Of 8 patients, 5 developed local relapse 9-57 months after radiotherapy. No toxicity was noted. Conclusion: In nodular lymphocyte predominance Hodgkin's lymphoma, low-dose radiotherapy provided excellent response rates and lasting remissions without significant toxicity.

  20. Multiple bilateral pulmonary nodules masquerading as pulmonary metastasis; a case of nodular sarcoidosis

    PubMed Central

    Jafari, Mostafa; Farrokh, Donya; Mohammadpanah, Najmeh

    2016-01-01

    Sarcoidosis is a multi-system inflammatory disorder of unknown etiology that is manifested by the presence of non-caseating granulomas. Multiple pulmonary nodules are rare presentations of sarcoidosis. We report a case of nodular sarcoidosis in a young male of Middle-East origin who had initially presented with bilateral painful ankle edema. His chest X-ray showed multiple bilateral pulmonary nodules. A high resolution computed tomography scan of the chest demonstrated multiple pulmonary nodular lesions and also mediastinal and hilar lymphadenopathy. Subsequent biopsies revealed non-necrotizing granuloma with multi-nucleated giant cells indicative of sarcoidosis. An appropriate work-up was done to confirm the true nature of the nodules and facilitate treatment. PMID:27757192

  1. Nodular transformation of the liver associated with portal and pulmonary arterial hypertension.

    PubMed

    Portmann, B; Stewart, S; Higenbottam, T W; Clayton, P T; Lloyd, J K; Williams, R

    1993-02-01

    A case of multiple focal nodular hyperplasia (FNH) of the liver associated with noncirrhotic portal hypertension and later complicated by pulmonary arterial hypertension leading to death from right heart failure is reported. In retrospect, the portal hypertension diagnosed in early life was most likely due to a congenital hypoplasia of portal vein branches and multiple FNH, a hyperplastic response of the liver parenchyma in association with anomalies of hepatic arterial branches as found within the lesions. This case may represent a form of multiple FNH syndrome restricted to the liver, because neither extrahepatic vascular malformation nor brain tumor was identified at autopsy. The FNH lesions had considerably expanded over the years, and the severe sinusoidal congestion due to chronic right-sided heart failure with subsequent prolonged parenchymal exposure to blood-borne hepatotrophic factors is a likely explanation for both the massive enlargement of FNH lesions and the nodular regenerative hyperplasia observed in the intervening parenchyma.

  2. Tremor in multiple sclerosis

    PubMed Central

    Mostert, Jop; Heersema, Dorothea; De Keyser, Jacques

    2007-01-01

    Tremor is estimated to occur in about 25 to 60 percent of patients with multiple sclerosis (MS). This symptom, which can be severely disabling and embarrassing for patients, is difficult to manage. Isoniazid in high doses, carbamazepine, propranolol and gluthetimide have been reported to provide some relief, but published evidence of effectiveness is very limited. Most trials were of small size and of short duration. Cannabinoids appear ineffective. Tremor reduction can be obtained with stereotactic thalamotomy or thalamic stimulation. However, the studies were small and information on long-term functional outcome is scarce. Physiotherapy, tremor reducing orthoses, and limb cooling can achieve some functional improvement. Tremor in MS remains a significant challenge and unmet need, requiring further basic and clinical research. PMID:17318714

  3. Treatment of systemic sclerosis.

    PubMed Central

    Medsger, T A

    1991-01-01

    Proper classification of patients into diffuse cutaneous and limited cutaneous subsets and the anticipation of complications are the keys to the management of subjects with systemic sclerosis (scleroderma). Patients with early diffuse disease and rapidly progressive skin thickening are at highest risk of developing serious disease of the internal organs (intestine, lung, heart, kidney) and should be considered for disease modifying treatment. The targets of the disease and sites of possible intervention are vascular endothelium (vasoprotective agents), mononuclear cell subsets (immunosuppressive agents), and fibroblasts (colchicine, D-penicillamine). A number of new agents with sound scientific rationale are currently undergoing therapeutic trials. Much can be done to improve the lifestyle of those with scleroderma. The most dramatic recent development is the ability to reverse kidney disease by the prompt use of angiotensin converting enzyme inhibitors and modern methods of renal dialysis and transplantation. Scleroderma is not a hopeless disease. PMID:1750801

  4. The tuberous sclerosis complex

    PubMed Central

    Orlova, Ksenia A.; Crino, Peter B.

    2010-01-01

    Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated that the TSC1 or TSC2 encoded proteins modulate cell function via the mTOR signaling cascade and serve as keystones in regulating cell growth and proliferation. The mTOR pathway provides an intersection for an intricate network of protein cascades that respond to cellular nutrition, energy levels, and growth-factor stimulation. In the brain, TSC1 and TSC2 have been implicated in cell body size, dendritic arborization, axonal outgrowth and targeting, neuronal migration, cortical lamination, and spine formation. Antagonism of the mTOR pathway with rapamycin and related compounds may provide new therapeutic options for TSC patients. PMID:20146692

  5. Vaccines in Multiple Sclerosis.

    PubMed

    Williamson, Eric M L; Chahin, Salim; Berger, Joseph R

    2016-04-01

    Vaccinations help prevent communicable disease. To be valuable, a vaccine's ability to prevent disease must exceed the risk of adverse effects from administration. Many vaccines present no risk of infection as they are comprised of killed or non-infectious components while other vaccines consist of live attenuated microorganisms which carry a potential risk of infection-particularly, in patients with compromised immunity. There are several unique considerations with respect to vaccination in the multiple sclerosis (MS) population. First, there has been concern that vaccination may trigger or aggravate the disease. Second, disease-modifying therapies (DMTs) employed in the treatment of MS may increase the risk of infectious complications from vaccines or alter their efficacy. Lastly, in some cases, vaccination strategies may be part of the treatment paradigm in attempts to avoid complications of therapy.

  6. Primary Lateral Sclerosis

    PubMed Central

    Statland, Jeffrey M.; Barohn, Richard J.; Dimachkie, Mazen M.; Floeter, Mary Kay; Mitsumoto, Hiroshi

    2015-01-01

    Synopsis Primary lateral sclerosis (PLS) is characterized by insidious onset of progressive upper motor neuron dysfunction in the absence of clinical signs of lower motor neuron involvement. Patients experience stiffness, decreased balance and coordination, and mild weakness, and if the bulbar region is affected, difficulty speaking and swallowing, and emotional lability. The diagnosis is made based on clinical history, typical exam findings, and diagnostic testing negative for other causes of upper motor neuron dysfunction. EMG is normal, or only shows mild neurogenic findings in a few muscles, not meeting El Escorial criteria. Although no test is specific for PLS, some neurodiagnostic tests are supportive: including absent or delayed central motor conduction times; and changes in the precentral gyrus or corticospinal tracts on MRI, DTI or MR Spectroscopy. Treatment is largely supportive, and includes medications for spasticity, baclofen pump, and treatment for pseudobulbar affect. The prognosis in PLS is more benign than ALS, making this a useful diagnostic category. PMID:26515619

  7. Disseminated Cryptococcosis in a 63-year-old Patient with Multiple Sclerosis Treated with Fingolimod

    PubMed Central

    Seto, Hiroyuki; Nishimura, Mitsushige; Minamiji, Katsuhiro; Miyoshi, Sonoko; Mori, Hiroyuki; Kanazawa, Kenji; Yasuda, Hisafumi

    2016-01-01

    We herein report the case of a 63-year-old man who presented with a 3-month history of a cutaneous nodular lesion of his jaw, low grade fever, lethargy and progressive cognitive impairment. He had a 30-year history of multiple sclerosis and had been treated with fingolimod for the previous 2 years. Laboratory data revealed CD4 lymphocytopenia and a tissue culture of the skin nodule was positive for Cryptococcus neoformans. Cerebrospinal fluid and serum cryptococcal antigen tests were also positive and we diagnosed him to have disseminated cryptococcosis. This dissemination might be associated with fingolimod-induced CD4 lymphocytopenia. The risk of an opportunistic infection should therefore be considered when encountering fingolimod-treated patients. PMID:27853088

  8. Dermatoglyphic features in patients with multiple sclerosis

    PubMed Central

    Sabanciogullari, Vedat; Cevik, Seyda; Karacan, Kezban; Bolayir, Ertugrul; Cimen, Mehmet

    2014-01-01

    Objective: To examine dermatoglyphic features to clarify implicated genetic predisposition in the etiology of multiple sclerosis (MS). Methods: The study was conducted between January and December 2013 in the Departments of Anatomy, and Neurology, Cumhuriyet University School of Medicine, Sivas, Turkey. The dermatoglyphic data of 61 patients, and a control group consisting of 62 healthy adults obtained with a digital scanner were transferred to a computer environment. The ImageJ program was used, and atd, dat, adt angles, a-b ridge count, sample types of all fingers, and ridge counts were calculated. Results: In both hands of the patients with MS, the a-b ridge count and ridge counts in all fingers increased, and the differences in these values were statistically significant. There was also a statistically significant increase in the dat angle in both hands of the MS patients. On the contrary, there was no statistically significant difference between the groups in terms of dermal ridge samples, and the most frequent sample in both groups was the ulnar loop. Conclusions: Aberrations in the distribution of dermatoglyphic samples support the genetic predisposition in MS etiology. Multiple sclerosis susceptible individuals may be determined by analyzing dermatoglyphic samples. PMID:25274586

  9. Therapeutics for multiple sclerosis symptoms.

    PubMed

    Ben-Zacharia, Aliza Bitton

    2011-01-01

    Symptoms management in multiple sclerosis is an integral part of its care. Accurate assessment and addressing the different symptoms provides increased quality of life among patients with multiple sclerosis. Multiple sclerosis symptoms may be identified as primary, secondary, or tertiary symptoms. Primary symptoms, such as weakness, sensory loss, and ataxia, are directly related to demyelination and axonal loss. Secondary symptoms, such as urinary tract infections as a result of urinary retention, are a result of the primary symptoms. Tertiary symptoms, such as reactive depression or social isolation, are a result of the social and psychological consequences of the disease. Common multiple sclerosis symptoms include fatigue and weakness; decreased balance, spasticity and gait problems; depression and cognitive issues; bladder, bowel, and sexual deficits; visual and sensory loss; and neuropathic pain. Less-common symptoms include dysarthria and dysphagia, vertigo, and tremors. Rare symptoms in multiple sclerosis include seizures, hearing loss, and paralysis. Symptom management includes nonpharmacological methods, such as rehabilitation and psychosocial support, and pharmacological methods, ie, medications and surgical procedures. The keys to symptom management are awareness, knowledge, and coordination of care. Symptoms have to be recognized and management needs to be individualized. Multiple sclerosis therapeutics include nonpharmacological strategies that consist of lifestyle modifications, rehabilitation, social support, counseling, and pharmacological agents or surgical procedures. The goal is vigilant management to improve quality of life and promote realistic expectations and hope.

  10. Complexometric determination of magnesium in nodular cast iron and alloyed cast iron roll samples.

    PubMed

    Banerjee, S; Dutta, R K

    1980-02-01

    A complexometric method for the determination of magnesium in nodular cast iron, alloyed cast iron and roll samples has been developed. The bulk of the iron is removed by ether extraction and the phosphate as zirconium phosphate. The other elements are removed by extraction with dithiocarbamate into chloroform. Magnesium is then titrated with EDTA at pH 10, with Eriochrome Black T as indicator. Calcium interferes, but is very rarely present in such cast iron samples.

  11. Laryngeal involvement with fatal outcome in progressive nodular histiocytosis: A rare case report

    PubMed Central

    Salunke, Aarti; Belgaumkar, Vasudha; Chavan, Ravindranath; Dobariya, Rinkesh

    2016-01-01

    Progressive nodular histiocytosis (PNH) represents a very rare type of non-Langerhans cell histiocytosis. It is characterized by progressive appearance of papules and nodules without spontaneous resolution. We report a 60-year-old patient with novel clinical features in the form of extensive noduloulcerative lesions, ichthyotic patches, and laryngeal involvement culminating in fatal outcome prior to therapeutic intervention. Although the presenting features were baffling, histopathology and immunohistochemistry clinched the diagnosis of PNH. PMID:27990389

  12. Laser-induced interstitial thermotherapy in treatment of recurrent nodular goiter and thyroid cancer

    NASA Astrophysics Data System (ADS)

    Seliverstov, Oleg V.; Privalov, Valeriy A.; Lappa, Alexander V.; Demidov, A. K.; Faizrakhmanov, Alexey B.; Yarovoy, Nicolay N.

    2001-10-01

    Laser-induced interstitial thermotherapy was performed in 29 patients with recurrent nodular and multinodular goiter, and in 3 patients with recurrent inoperable thyroid cancer. There were used transcutaneous puncture under ultrasonic control, diode lasers with wavelength 805, 980, and 1060 nm, quartz monofibers, special computerized thermometer with microthermocouples. Disappearance or significant reduction of nodes in the most goiter cases, and regress of tumor in the cancer cases were marked during observation period (0.5 - 2.5 years).

  13. Evolution of diagnostic criteria for multiple sclerosis.

    PubMed

    Przybek, Joanna; Gniatkowska, Inga; Mirowska-Guzel, Dagmara; Członkowska, Anna

    2015-01-01

    Multiple sclerosis is a chronic demyelinating disease of the central nervous system that occurs primarily in young adults. There is no single diagnostic test to recognize the disease. The diagnostic criteria, based on clinical examination and laboratory tests, have changed considerably over time. The first guidelines involved only the results of the patient's neurological examination. The diagnostic criteria developed by Poser in 1983 were based largely on the results of additional tests, including visual evoked potentials and analysis of cerebrospinal fluid. The McDonald criteria, developed in 2001 and updated in 2005 and 2010, reflected the diagnostic breakthrough caused by widespread use of magnetic resonance imaging (MRI). Currently, the diagnosis depends largely on the results of the MRI examination. An early diagnosis is particularly important for starting disease-modifying treatments.

  14. Diagnostic criteria for pediatric multiple sclerosis.

    PubMed

    Rubin, Jennifer P; Kuntz, Nancy L

    2013-06-01

    An estimated 2 % to 5 % of all persons with multiple sclerosis (MS) have onset of symptoms before 16 years of age Krupp and Hertz (Neurology 68(Suppl 2), 2007). As in adults, the diagnosis of pediatric MS is a clinical one, requiring recurrent episodes of CNS demyelination with supportive paraclinical data (MRI findings, CSF characteristics) in the absence of another plausible diagnosis. The differential diagnosis is broad and, the more atypical the case and the younger the child, the more consideration is necessary before making a diagnosis of MS. MS must be differentiated from acute disseminated encephalomyelitis (ADEM) or neuromyelitis optica (NMO). After initial presentation with a CNS demyelinating event or clinically isolated syndrome (CIS), children can meet the diagnostic criteria for MS if serial changes are noted on MRI and other disorders are excluded. Accurate diagnosis of pediatric MS is critical because of the implications of the diagnosis, including the need for long-term disease modifying therapy.

  15. Is multiple sclerosis a mitochondrial disease?

    PubMed Central

    Mao, Peizhong; Reddy, P. Hemachandra

    2009-01-01

    Multiple sclerosis (MS) is a relatively common and etiologically unknown disease with no cure treatment. It is the leading cause of neurological disability in young adults, affecting over two million people worldwide. Traditionally, MS has been considered a chronic, inflammatory disorder of the central white matter in which ensuing demyelination results in physical disability. Recently, MS has become increasingly viewed as a neurodegenerative disorder in which axonal injury, neuronal loss, and atrophy of the central nervous system lead to permanent neurological and clinical disability. In this article, we discuss the latest developments on MS research, including etiology, pathology, genetic association, EAE animal models, mechanisms of neuronal injury and axonal transport and therapeutics. In this article, we also focus on the mechanisms of mitochondrial dysfunction that are involved in MS, including mitochondrial DNA defects, and mitochondrial structural/functional changes. PMID:19607913

  16. Emotional Disorders in People with Multiple Sclerosis

    MedlinePlus

    ... and their FAMILIES EMOTIONAL DISORDERS IN PEOPLE WITH MULTIPLE SCLEROSIS This fact sheet presents the current research on emotional disorders in multiple sclerosis (MS) and summarizes the main findings of a ...

  17. Accelerated Cure Project for Multiple Sclerosis

    MedlinePlus

    ... main content Accelerating research toward a cure for multiple sclerosis Home Contact Us Search form Search Connect Volunteer ... is to accelerate efforts toward a cure for multiple sclerosis by rapidly advancing research that determines its causes ...

  18. Genetics Home Reference: tuberous sclerosis complex

    MedlinePlus

    ... phenotype in tuberous sclerosis. J Med Genet. 2004 Mar;41(3):203-7. Citation on PubMed or ... sclerosis complex: a review. Semin Pediatr Neurol. 2006 Mar;13(1):27-36. Review. Citation on PubMed ...

  19. Multiple Sclerosis: Can It Cause Seizures?

    MedlinePlus

    ... it cause seizures? Is there any connection between multiple sclerosis and epilepsy? Answers from B Mark Keegan, M. ... seizures are more common in people who have multiple sclerosis (MS) than in those who don't have ...

  20. Vitamin D Levels Predict Multiple Sclerosis Progression

    MedlinePlus

    ... Research Matters NIH Research Matters February 3, 2014 Vitamin D Levels Predict Multiple Sclerosis Progression Among people ... sclerosis (MS), those with higher blood levels of vitamin D had better outcomes during 5 years of ...

  1. Therapeutic strategies in childhood multiple sclerosis.

    PubMed

    Ghezzi, Angelo

    2010-07-01

    Multiple sclerosis (MS) in children and adolescents accounts for 3-10% of the whole MS population, and is characterized by a relapsing course in almost all cases. The frequency of relapses is higher than in adult onset MS, at least in the first years of evolution. The objective of treatment is to speed the recovery after a relapse, to prevent the occurrence of relapses, and to prevent disease progression and neurodegeneration. The use of drugs for MS in children and adolescents has not been studied in clinical trials, so their use is mainly based on results from trials in adults and from observational studies. There is a consensus to treat acute relapses with intravenous high-dose corticosteroids. The possibility of preventing relapses and disease progression is based on the use of immunomodulatory agents. Interferon-beta (IFNB) and glatiramer acetate (GA) have been demonstrated to be safe and well tolerated in pediatric MS patients, and also to reduce relapse rate and disease progression. Cyclophosphamide and natalizumab could be offered as second-line treatment in patients with a poor response to IFNB or GA. New oral and injectable drugs will be available in the near future: if safe and well tolerated in the long-term follow up of adults with MS, they could be tested in the pediatric MS population.

  2. Optineurin and amyotrophic lateral sclerosis.

    PubMed

    Maruyama, Hirofumi; Kawakami, Hideshi

    2013-07-01

    Amyotrophic lateral sclerosis is a devastating disease, and thus it is important to identify the causative gene and resolve the mechanism of the disease. We identified optineurin as a causative gene for amyotrophic lateral sclerosis. We found three types of mutations: a homozygous deletion of exon 5, a homozygous Q398X nonsense mutation and a heterozygous E478G missense mutation within its ubiquitin-binding domain. Optineurin negatively regulates the tumor necrosis factor-α-induced activation of nuclear factor kappa B. Nonsense and missense mutations abolished this function. Mutations related to amyotrophic lateral sclerosis also negated the inhibition of interferon regulatory factor-3. The missense mutation showed a cyotoplasmic distribution different from that of the wild type. There are no specific clinical symptoms related to optineurin. However, severe brain atrophy was detected in patients with homozygous deletion. Neuropathologically, an E478G patient showed transactive response DNA-binding protein of 43 kDa-positive neuronal intracytoplasmic inclusions in the spinal and medullary motor neurons. Furthermore, Golgi fragmentation was identified in 73% of this patient's anterior horn cells. In addition, optineurin is colocalized with fused in sarcoma in the basophilic inclusions of amyotrophic lateral sclerosis with fused in sarcoma mutations, and in basophilic inclusion body disease. These findings strongly suggest that optineurin is involved in the pathogenesis of amyotrophic lateral sclerosis.

  3. Fatigue and multiple sclerosis.

    PubMed

    Béthoux, F

    2006-07-01

    Even if the definition and pathophysiology of fatigue in multiple sclerosis (MS) are still debated, and despite the scarcity of objective markers correlated with the subjective sensation of fatigue, a review of the literature shows the importance of its detection and management, and allows one to propose therapeutic strategies. Fatigue is not only the most frequently reported symptom in MS, but also a frequent source of activity and participation limitations, psychological distress, and impairment of quality of life. Its management, which must be initiated early, is based on a comprehensive evaluation of its characteristics and consequences (sometimes with the use of scales such as the Fatigue Severity Scale and the Modified Fatigue Impact Scale), and on the identification of many potential contributing factors (psychological disorders, sleep disturbances, pain, infections and other comorbidities, medications, and deconditioning). Rehabilitative interventions are essential to the treatment of fatigue. Beyond the traditional energy conservation strategies and cooling techniques, several randomized controlled studies have demonstrated the positive impact of aerobic exercise. Medications are partially beneficial, and with the exception of amantadine, their efficacy has not been confirmed by randomized double-blind trials.

  4. Albumin and multiple sclerosis.

    PubMed

    LeVine, Steven M

    2016-04-12

    Leakage of the blood-brain barrier (BBB) is a common pathological feature in multiple sclerosis (MS). Following a breach of the BBB, albumin, the most abundant protein in plasma, gains access to CNS tissue where it is exposed to an inflammatory milieu and tissue damage, e.g., demyelination. Once in the CNS, albumin can participate in protective mechanisms. For example, due to its high concentration and molecular properties, albumin becomes a target for oxidation and nitration reactions. Furthermore, albumin binds metals and heme thereby limiting their ability to produce reactive oxygen and reactive nitrogen species. Albumin also has the potential to worsen disease. Similar to pathogenic processes that occur during epilepsy, extravasated albumin could induce the expression of proinflammatory cytokines and affect the ability of astrocytes to maintain potassium homeostasis thereby possibly making neurons more vulnerable to glutamate exicitotoxicity, which is thought to be a pathogenic mechanism in MS. The albumin quotient, albumin in cerebrospinal fluid (CSF)/albumin in serum, is used as a measure of blood-CSF barrier dysfunction in MS, but it may be inaccurate since albumin levels in the CSF can be influenced by multiple factors including: 1) albumin becomes proteolytically cleaved during disease, 2) extravasated albumin is taken up by macrophages, microglia, and astrocytes, and 3) the location of BBB damage affects the entry of extravasated albumin into ventricular CSF. A discussion of the roles that albumin performs during MS is put forth.

  5. Progressive multiple sclerosis

    PubMed Central

    Ontaneda, Daniel; Fox, Robert J.

    2015-01-01

    Purpose to Review To highlight the pathological features and clinical aspects of progressive multiple sclerosis (PMS). To highlight results of clinical trial experience to date and review ongoing clinical trials and perspective new treatment options. Explain the challenges of clinical trial design in PMS. Recent Findings MS has been identified as a chronic immune mediated disease, and the progressive phase of the disease appears to have significant neurodegenerative mechanisms. The classification of the course of PMS has been re-organized into categories of active vs. inactive inflammatory disease and the presence vs. absence of gradual disease progression. This differentiation allows clearer conceptualization of PMS and possibly even more efficient recruitment of PMS subjects into clinical trials. Clinical trial experience to date in PMS has been negative with anti-inflammatory medications used in relapsing MS. Simvastatin was recently tested in a phase II trial and showed a 43% reduction on annualized atrophy progression in secondary progressive MS. Ongoing PMS trials are currently being conducted with the phosphodiesterase inhibitor ibudilast, S1P modulator siponimod, and anti-B-cell therapy ocrelizumab. Several efforts for development of outcome measures in PMS are ongoing. Summary PMS represents a significant challenge, as the pathogenesis of the disease is not well understood, no validated outcome metrics have been established, and clinical trial experience to date has been disappointing. Advances in the understanding of the disease and lessons learned in previous clinical trials are paving the way for successful development of disease modifying agents for this disease. PMID:25887766

  6. Pharmacotherapy of Systemic Sclerosis

    PubMed Central

    Postlethwaite, Arnold E.; Harris, L. Jeff; Raza, Syed H.; Kodura, Swapna; Akhigbe, Titilola

    2010-01-01

    Importance of the field Systemic-sclerosis (SSc) is an uncommon autoimmune disease with variable degrees of fibroproliferation in blood vessels and certain organs of the body. Presently, there is no cure for SSc. The purpose of this article is to review the current literature regarding pathogenesis and treatment of complications of SSc. Areas covered in this review All available articles regarding research related to SSc pathogenesis and treatment listed in the PubMed.gov database were searched, relevant articles were then reviewed and used as sources of information for this review. What the reader will gain This review attempts for the reader to highlight some current thought regarding mechanisms of SSc pathogenesis and how autoimmunity relates to vascular changes and fibrogenesis of the disease plus provide a review of results of completed clinical trials and current on-going clinical trials that address organ specific or global therapies for this disease which can aid physicians who provide medical care for patients with SSc. Take home message SSc is a complex autoimmune disease, the pathogenesis of which although not completely understood is under active study, and new insights into pathogenesis are continuously being discovered. Although there is no effective disease modifying treatment for patients with SSc, quality of life, morbidity and mortality can be improved by using targeted therapy directed at affecting the consequences of damage to lungs, blood vessels, kidneys and the gastrointestinal tract. Innovative approaches to treating SSc are under intense investigation. PMID:20210685

  7. Multiple sclerosis and behavior.

    PubMed

    Pinkston, James B; Kablinger, Anita; Alekseeva, Nadejda

    2007-01-01

    Multiple sclerosis (MS) is one of the most frequently seen neurological causes of progressive disability in early to middle adulthood. The disease is variable in its presentation and course, affects roughly 100-300 per 100,000 persons within the United States alone, and is slightly more common among females than males. MS places substantial burdens on patients, families, and caregivers. It negatively affects cognitive abilities and psychiatric functioning, and can add a notably deleterious effect on a patient's quality of life. This chapter reviews the recent literature on the behavioral manifestations of MS. Cognitive domains discussed include executive functioning, processing speed, attention, learning and memory, language functioning, and visual spatial processing. Some attention will also be paid to differential diagnosis and the cognitive effects of treatment. Psychiatric manifestations are also discussed, including symptoms of depression, bipolar disorder, euphoria, pathological laughter and crying, and psychosis, as well as maladaptive personality traits. Finally, the chapter concludes with a discussion of the effects of MS on quality of life including such areas as fatigue, sexual dysfunction, pain, employment, and cognitive functioning.

  8. Management of multiple sclerosis.

    PubMed

    Perrin Ross, Amy

    2013-11-01

    Patients with multiple sclerosis (MS), a disease of the central nervous system that disrupts signals within the brain and also the signals between the brain and body, will likely experience symptoms that may negatively impact their quality of life (QOL). Due to the complexity of MS and its disease burden, multidisciplinary management that combines pharmacologic and nonpharmacologic strategies with patient education is necessary. Diagnosing relapses of MS in clinical practice can be difficult due to the multiple subtypes of MS, variations of symptomatology, and pseudo-relapses. Managing relapses also presents its own set of challenges, for example, evaluating if treatment is appropriate and determining which agent would be most effective for a patient if treatment is recommended. Patient education is essential for achieving optimal outcomes for patients with MS and improving patient QOL, and should increase awareness of: (1) the disease itself and its progression; (2) the signs and symptoms of MS; (3) current treatment strategies and plan of care; (4) the recognition and management of relapses; (5) the value of treatment adherence and impact of nonadherence; and (6) hope for the future. The management of active MS may be further complicated by the complex variety of pharmacotherapeutic options, and in some instances, by having to switch between agents and drug classes. Newer agents in development (eg, alemtuzumab, ocrelizumab, laquinimod) offer the opportunity to expand the therapeutic armamentarium, although further long-term data are required to evaluate any safety concerns associated with newer agents.

  9. Tuberous sclerosis with pulmonary involvement.

    PubMed Central

    Liberman, B. A.; Chamberlain, D. W.; Goldstein, R. S.

    1984-01-01

    Pulmonary tuberous sclerosis produced interstitial disease in a woman with normal-sized lungs; numerous hemosiderin-laden macrophages were found in the fluid obtained through bronchoalveolar lavage. The pathological changes seen in the lungs were identical to those of pulmonary lymphangiomyomatosis, in which the constellation of clinical signs usually found in tuberous sclerosis is absent. The two conditions are sufficiently similar in clinical presentation, pathological changes and prognosis to be considered variants of the same disease. The recent findings of progestin receptors in lung tissue from patients with pulmonary lymphangiomyomatosis will likely direct future management towards hormonal manipulation. Images FIG. 1 FIG. 2 FIG. 3 PMID:6692213

  10. [Current description of multiple sclerosis].

    PubMed

    Río, Jordi; Montalbán, Xavier

    2014-12-01

    Multiple sclerosis is a multifocal demyelinating disease leading to progressive neurodegeneration caused by an autoimmune response in genetically predisposed individuals. In the last few years, the knowledge and management of this disease has been revolutionized by a series of findings. The present article reviews pathological features of the disease, in which cortical involvement is increasingly implicated, and aspects related to novel pathogenic mechanisms, such as the role of the microbiota in the genesis of multiple sclerosis, as well as recent contributions from the fields of epidemiology and genetics. Also reviewed are the latest diagnostic criteria, which currently allow a much earlier diagnosis, with clear therapeutic implications.

  11. Body composition in multiple sclerosis

    PubMed Central

    Dionyssiotis, Y

    2013-01-01

    Multiple sclerosis affects central nervous system leading to disability. Among other complications the deterioration of body composition is usually neglected and increases the risk for diseases such as coronary heart disease, non-insulin dependent diabetes mellitus, lipid abnormalities and bone loss leading to fractures in this population. Body mass index values, the effect of spasticity, the increased number of drugs used and the relationship between skeletal muscle and bone which interacts with impaired motor function leading to body composition alterations in multiple sclerosis are reviewed. PMID:23935336

  12. Thyroid nodularity and chromosome aberrations among women in areas of high background radiation in China

    SciTech Connect

    Wang, Z.Y.; Boice, J.D. Jr.; Wei, L.X.; Beebe, G.W.; Zha, Y.R.; Kaplan, M.M.; Tao, Z.F.; Maxon, H.R. III; Zhang, S.Z.; Schneider, A.B. )

    1990-03-21

    Thyroid nodularity following continuous low-dose radiation exposure in China was determined in 1,001 women aged 50-65 years who resided in areas of high background radiation (330 mR/yr) their entire lives, and in 1,005 comparison subjects exposed to normal levels of radiation (114 mR/yr). Cumulative doses to the thyroid were estimated to be of the order of 14 cGy and 5 cGy, respectively. Personal interviews and physical examinations were conducted, and measurements were made of serum thyroid hormone levels, urinary iodine concentrations, and chromosome aberrations in circulating lymphocytes. For all nodular disease, the prevalences in the high background and control areas were 9.5% and 9.3%, respectively. For single nodules, the prevalences were 7.4% in the high background area and 6.6% in the control area (prevalence ratio = 1.13; 95% confidence interval = 0.82-1.55). There were no differences found in serum levels of thyroid hormones. Women in the high background region, however, had significantly lower concentrations of urinary iodine and significantly higher frequencies of stable and unstable chromosome aberrations. Increased intake of allium vegetables such as garlic and onions was associated with a decreased risk of nodular disease, which seems consistent with experimental studies suggesting that allium compounds can inhibit tumor growth and proliferation. The prevalence of mild diffuse goiter was higher in the high background radiation region, perhaps related to a low dietary intake of iodine. These data suggest that continuous exposure to low-level radiation throughout life is unlikely to appreciably increase the risk of thyroid cancer. However, such exposure may cause chromosomal damage.

  13. Routine calcitonin measurement in nodular thyroid disease management: is it worthwhile?

    PubMed Central

    Turk, Yigit; Ozdemir, Murat; Ertunc, Gozde; Demir, Batuhan; Icoz, Gokhan; Akyildiz, Mahir; Yilmaz, Mustafa

    2017-01-01

    Purpose To evaluate the diagnostic accuracy of routine calcitonin measurement in patients with nodular thyroid disease. Methods Consecutive patients with nodular thyroid disease (n = 640) were studied. Serum calcitonin levels were measured under basal conditions, and when basal values were between 10–100 pg/mL, testing was repeated after pentagastrin (PG) stimulation. Patients with previously diagnosed or familial medullary thyroid cancer (MTC) were excluded. Patients were operated on when basal or stimulated calcitonin >100 pg/mL or when other surgical indications were present. Results Four cases of MTC were identified. MTC was diagnosed in 75% of patients with basal calcitonin >100 pg/mL. One out of 11 patients with basal calcitonin between 10–100 pg/mL was diagnosed with MTC. PG stimulation resulted in elevation in 4 cases, where 1 case was diagnosed with MTC. Positive predictive value for basal calcitonin levels in the preoperative diagnosis of MTC was 5% for values between 10–100 pg/mL and 100% for values >100 pg/mL. Possible reasons for false positivity were papillary thyroid cancer in 17%, renal insufficiency in 8.3%, Hashimoto thyroiditis in 17% and β-blocker use in 33%. Positive predictive value for the PG test (>100 pg/mL) was 25% in the entire series. The cost of adding calcitonin measurement (±PG stimulation) to the preoperative work-up, resulted in €912.68 per MTC patient to detect the disease. Conclusion Basal calcitonin measurement together with PG stimulation in cases of basal calcitonin >10 pg/mL detects MTC in 0.62% of patients with nodular thyroid disease. PMID:28382288

  14. Phenotypic and Imaging Features of FLNA-Negative Patients With Bilateral Periventricular Nodular Heterotopia and Epilepsy

    PubMed Central

    Fallil, Zianka; Pardoe, Heath; Bachman, Robert; Cunningham, Benjamin; Parulkar, Isha; Shain, Catherine; Poduri, Annapurna; Knowlton, Robert; Kuzniecky, Ruben

    2015-01-01

    Purpose Periventricular nodular heterotopia (PVNH) is a malformation of cortical development due to impaired neuronal migration resulting in the formation of nodular masses of neurons and glial cells in close proximity to the ventricular walls. We report the clinical characteristics of the largest case series of FLNA negative patients with seizures and bilateral periventricular heterotopia. Methods Participants were recruited through the Epilepsy Phenome/Genome Project (EPGP), a multicenter collaborative effort to collect detailed phenotypic data and DNA on a large number of individuals with epilepsy, including a cohort with symptomatic epilepsy related to PVNH. Included subjects had epilepsy and MRI confirmed bilateral PVNH. MRI studies were visually and quantitatively reviewed to investigate the topographic extent of PVNH, symmetry and laterality. Key Findings We analyze data on 71 patients with bilateral PVNH. The incidence of febrile seizures was 16.6%. There was at least one other family member with epilepsy in 36.9% of this population. Developmental delay was present in 21.8%. Focal onset seizures were the most common type of seizure presentation (79.3%). High heterotopia burden was strongly associated with female gender and trigonal nodular localization. There was no evidence for differences in brain volume between PVNH subjects and controls. No relationship was observed between heterotopic volume and gender, developmental delay, location of PVNH, ventricular or cerebellar abnormalities, laterality of seizure onset, age at seizure onset and duration of epilepsy. Significance A direct correlation was observed between high heterotopia burden, female gender and trigonal location in this large cohort of FLNA-negative bilateral PVNH patients with epilepsy. Quantitative MRI measurements indicate that this correlation is based on the diffuse nature of the heterotopic nodules rather than on the total volume of abnormal heterotopic tissue. PMID:26340046

  15. Efficacy and safety of electronic brachytherapy for superficial and nodular basal cell carcinoma

    PubMed Central

    Pons-Llanas, Olga; Candela-Juan, Cristian; Celada-Alvarez, Francisco Javier; de Unamuno-Bustos, Blanca; Llavador-Ros, Margarita; Ballesta-Cuñat, Antonio; Barker, Christopher A.; Tormo-Mico, Alejandro; Botella-Estrada, Rafael; Perez-Calatayud, Jose

    2015-01-01

    Purpose Surface electronic brachytherapy (EBT) is an alternative radiotherapy solution to external beam electron radiotherapy and high-dose-rate radionuclide-based brachytherapy. In fact, it is also an alternative solution to surgery for a subgroup of patients. The objective of this work is to confirm the clinical efficacy, toxicity and cosmesis of a new EBT system, namely Esteya® in the treatment of nodular and superficial basal cell carcinoma (BCC). Material and methods This is a prospective single-center, non-randomized pilot study to assess the efficacy and safety of EBT in nodular and superficial BCC using the Esteya® system. The study was conducted from June 2014 to February 2015. The follow up time was 6 months for all cases. Results Twenty patients with 23 lesions were included. A complete response was documented in all lesions (100%). A low level of toxicity was observed after the 4th fraction in all cases. Erythema was the most frequent adverse event. Cosmesis was excellent, with more than 60% of cases without skin alteration and with subtle changes in the rest. Conclusions Electronic brachytherapy with Esteya® appears to be an effective, simple, safe, and comfortable treatment for nodular and superficial BCC associated with excellent cosmesis. It could be a good choice for elderly patients, patients with contraindications for surgery (due to comorbidities or anticoagulant drugs) or patients where surgery would result in a more disfiguring outcome. A longer follow-up and more studies are needed to confirm these preliminary results. PMID:26207112

  16. Rituximab in multiple sclerosis

    PubMed Central

    Svenningsson, Rasmus; Alping, Peter; Novakova, Lenka; Björck, Anna; Fink, Katharina; Islam-Jakobsson, Protik; Malmeström, Clas; Axelsson, Markus; Vågberg, Mattias; Sundström, Peter; Lycke, Jan; Piehl, Fredrik; Svenningsson, Anders

    2016-01-01

    Objective: To investigate the safety and efficacy of rituximab in multiple sclerosis (MS). Methods: In this retrospective uncontrolled observational multicenter study, off-label rituximab-treated patients with MS were identified through the Swedish MS register. Outcome data were collected from the MS register and medical charts. Adverse events (AEs) grades 2–5 according to the Common Terminology Criteria for Adverse Events were recorded. Results: A total of 822 rituximab-treated patients with MS were identified: 557 relapsing-remitting MS (RRMS), 198 secondary progressive MS (SPMS), and 67 primary progressive MS (PPMS). At baseline, 26.2% had contrast-enhancing lesions (CELs). Patients were treated with 500 or 1,000 mg rituximab IV every 6–12 months, during a mean 21.8 (SD 14.3) months. During treatment, the annualized relapse rates were 0.044 (RRMS), 0.038 (SPMS), and 0.015 (PPMS), and 4.6% of patients displayed CELs. Median Expanded Disability Status Scale remained unchanged in RRMS (p = 0.42) and increased by 0.5 and 1.0 in SPMS and PPMS, respectively (p = 0.10 and 0.25). Infusion-related AEs occurred during 7.8% of infusions and most were mild. A total of 89 AEs grades ≥2 (of which 76 infections) were recorded in 72 patients. No case of progressive multifocal leukoencephalopathy was detected. Conclusions: This is the largest cohort of patients with MS treated with rituximab reported so far. The safety, clinical, and MRI findings in this heterogeneous real-world cohort treated with different doses of rituximab were similar to those reported in previous randomized controlled trials on B-cell depletion therapy in MS. Classification of evidence: This study provides Class IV evidence that for patients with MS, rituximab is safe and effective. PMID:27760868

  17. Multiple sclerosis update.

    PubMed

    Markowitz, Clyde E

    2013-11-01

    Multiple sclerosis (MS) is a chronic but incurable disease of the central nervous system (CNS) that is often diagnosed in the second or third decade of life. It is more common among women than men, significantly impairs patient quality of life, and is associated with substantial costs to patients, healthcare systems, and society. Of the approximately 2.3 million individuals worldwide that have MS, more than 400,000 reside in the United States. Although the etiology of MS is not completely understood, a great deal of evidence suggests a complex relationship between environmental and genetic factors. The pathophysiology of MS involves an aberrant attack by the host immune system on oligodendrocytes, which synthesize and maintain myelin sheaths in the CNS. There are 4 identified disease courses in MS, and approximately 85% of people with MS present with relapsing-remitting MS, which is characterized by discrete acute attacks followed by periods of remission. Signs and symptoms of MS are dependent on the demyelinated area(s) of the CNS and often involve sensory disturbances, limb weakness, fatigue, and increased body temperature. The criteria for a diagnosis of MS include evidence of damage in at least 2 separate areas of the CNS, evidence that the damage occurred at different time points, and the ruling out of other possible diagnoses. Diseasemodifying drugs (DMDs) that reduce the frequency of relapses, development of brain lesions, and progression of disability are the standard of care for relapsing forms of MS, and the use of DMDs should be initiated as early as possible.

  18. Nodular amyloidosis of the lung and the breast mimicking breast carcinoma with pulmonary metastasis.

    PubMed

    Liaw, Y S; Kuo, S H; Yang, P C; Chen, C L; Luh, K T

    1995-05-01

    Nodular amyloidosis of the breast and lung is a rare condition of unknown aetiology. The disease runs a benign course, but offers a diagnostic problem due to nonspecific histological features. We describe the case of a 56 year old woman with a 5 year history of multiple nodules of both lungs and left breast, clinically mimicking breast carcinoma with pulmonary metastasis. To our knowledge, this is the first case of cytologically proven amyloidosis diagnosed by ultrasound-guided percutaneous transthoracic fine-needle aspiration of pulmonary nodules.

  19. [Pulmonary Mycobacterium avium-intracellulare complex disease that presented multiple nodular shadows rapidly].

    PubMed

    Fujiwara, Kiyohiro

    2009-09-01

    The patient was 81-year-old woman diagnosed with lung cancer who underwent upper right lobectomy in January 2002. Computed tomography (CT) of the thorax showed a mass shadow presenting rapid-growing in the left S3 in August, 2008. The size of the mass shadow in the left S3 increased on day 16 after hospitalization, and a nodular shadow appeared in the left S(1+2). The bronchial washing specimen showed acid-fast bacilli identified as Mycobacterium intracellulare by deoxyribonucleic acid (DNA) -DNA hybridization (DDH). The patient showed radiological improvement following combination chemotherapy with rifampicin, ethambutol and clarithromycin.

  20. Transition of nodular toxic goiter to autoimmune hyperthyroidism triggered by 131I therapy.

    PubMed

    Nygaard, B; Faber, J; Veje, A; Hegedüs, L; Hansen, J M

    1999-05-01

    The use of 131I treatment in nodular toxic goiter is widely accepted. In this article, we describe transition of nodular toxic goiter into an autoimmune toxic goiter with development of thyrotropin receptor antibodies (TRAb) as a side effect of 131I treatment. In this retrospective study, 149 patients with nodular toxic goiter (100 with multinodular goiter, 49 with a solitary autonomously functioning toxic nodule) were studied. Of these 149 patients 100 became permanently euthryoid after 1 dose of 131I, and due to persistent hyperthyroidism, 32 patients needed 2-5 doses to became euthyroid. After becoming euthyroid, none of these 132 patients had relapse of hyperthyroidism in the follow-up period. Based on evaluation of the thyroid hormone variables, 17 of 149 patients had a distinctly different pattern in the changes in thyroid hormones. They developed an increase in FT4I 3-6 months posttreatment after an initial fall in FT4I. Twelve of these 17 patients were treated with antithyroid drugs before the initial 131I dose. On samples of frozen sera (-20 degrees C) anti-thyroid peroxidase (TPO) and TRAb were followed for 6 months after 131I treatment in these 17 patients. A similar follow-up was done in 20 patients (10 with and 10 without antithyroid drug pretreatment), randomly selected from the patients who did not relapse. In the remaining 112 patients, anti-TPO and TRAb levels were measured only before the 131I treatment. Of the 17 patients with relapse, 6 developed TRAb concomitant with recurrence of hyperthyroidism (4% of the study group). In 5 of the 17 patients TRAb values remained absent throughout the follow-up period. The remaining 6 patients had elevated TRAb values before 131I treatment. Among the 132 patients who did not relapse, an additional 7 cases with presence of TRAb were found. A total of 9% of the study group was found to have TRAb before 131I pretreatment. Anti-TPO was found in 20 of 149 patients (13%) before 131I treatment. Complications, either

  1. Medulloblastoma With Extensive Nodularity: Tailored Therapy in a Low-resource Setting.

    PubMed

    Aristizabal, Paula; Burns, Luke; Rivera-Gomez, Rebeca; Levy, Michael L; Roberts, William; Crawford, John R

    2017-03-06

    Treatment for medulloblastoma carries significant risks, particularly in resource-constrained settings. We report a case of a Mexican infant with desmoplastic/nodular medulloblastoma. Given the nature of her tumor, we developed a tailored regimen following subtotal resection to avoid both radiation therapy and the high-dose cisplatin therapy offered at most centers in the United States. The patient is in remission 4 years after the initial diagnosis. This case suggests an alternative treatment plan for this particular tumor variant that accommodates the limited resources of many centers around the world and avoids the risks associated with radiation therapy at a young age.

  2. Variables Associated with Communicative Participation in People with Multiple Sclerosis: A Regression Analysis

    ERIC Educational Resources Information Center

    Baylor, Carolyn; Yorkston, Kathryn; Bamer, Alyssa; Britton, Deanna; Amtmann, Dagmar

    2010-01-01

    Purpose: To explore variables associated with self-reported communicative participation in a sample (n = 498) of community-dwelling adults with multiple sclerosis (MS). Method: A battery of questionnaires was administered online or on paper per participant preference. Data were analyzed using multiple linear backward stepwise regression. The…

  3. Rural-Urban Comparisons of Nursing Home Residents With Multiple Sclerosis

    ERIC Educational Resources Information Center

    Buchanan, Robert J.; Wang, Suojin; Zhu,Li; Kim, MyungSuk

    2004-01-01

    Multiple sclerosis (MS) is the most common neurologic disease that disables younger adults, affecting as many as 350,000 Americans. Purpose: The objectives of this study are to develop profiles of nursing home residents with MS from rural areas and compare them to residents with MS who lived in urban areas, suburban areas, and large towns.…

  4. Characteristics of Speaking Rate in the Dysarthria Associated with Amyotrophic Lateral Sclerosis.

    ERIC Educational Resources Information Center

    Turner, Greg S.; Weismer, Gary

    1993-01-01

    The ability to alter speaking rate was studied in nine adult subjects with amyotrophic lateral sclerosis and nine control subjects. Results suggest that the relationship between speaking rate, articulation rate, pause duration, and pause frequency remained largely intact for the dysarthric speakers. Data showed greater dependence on pausing by the…

  5. Amyotrophic lateral sclerosis mimic syndromes

    PubMed Central

    Ghasemi, Majid

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) misdiagnosis has many broad implications for the patient and the neurologist. Potentially curative treatments exist for certain ALS mimic syndromes, but delay in starting these therapies may have an unfavorable effect on outcome. Hence, it is important to exclude similar conditions. In this review, we discuss some of the important mimics of ALS. PMID:27326363

  6. Autism in Tuberous Sclerosis Complex.

    ERIC Educational Resources Information Center

    Gutierrez, Griselda C.; Smalley, Susan L.; Tanguay, Peter E.

    1998-01-01

    The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by benign tissue growths and a high frequency of seizure disorders and mental retardation, was examined. Eight probands met criteria for autism. Implications for understanding the association of…

  7. Defining secondary progressive multiple sclerosis.

    PubMed

    Lorscheider, Johannes; Buzzard, Katherine; Jokubaitis, Vilija; Spelman, Tim; Havrdova, Eva; Horakova, Dana; Trojano, Maria; Izquierdo, Guillermo; Girard, Marc; Duquette, Pierre; Prat, Alexandre; Lugaresi, Alessandra; Grand'Maison, François; Grammond, Pierre; Hupperts, Raymond; Alroughani, Raed; Sola, Patrizia; Boz, Cavit; Pucci, Eugenio; Lechner-Scott, Jeanette; Bergamaschi, Roberto; Oreja-Guevara, Celia; Iuliano, Gerardo; Van Pesch, Vincent; Granella, Franco; Ramo-Tello, Cristina; Spitaleri, Daniele; Petersen, Thor; Slee, Mark; Verheul, Freek; Ampapa, Radek; Amato, Maria Pia; McCombe, Pamela; Vucic, Steve; Sánchez Menoyo, José Luis; Cristiano, Edgardo; Barnett, Michael H; Hodgkinson, Suzanne; Olascoaga, Javier; Saladino, Maria Laura; Gray, Orla; Shaw, Cameron; Moore, Fraser; Butzkueven, Helmut; Kalincik, Tomas

    2016-09-01

    A number of studies have been conducted with the onset of secondary progressive multiple sclerosis as an inclusion criterion or an outcome of interest. However, a standardized objective definition of secondary progressive multiple sclerosis has been lacking. The aim of this work was to evaluate the accuracy and feasibility of an objective definition for secondary progressive multiple sclerosis, to enable comparability of future research studies. Using MSBase, a large, prospectively acquired, global cohort study, we analysed the accuracy of 576 data-derived onset definitions for secondary progressive multiple sclerosis and first compared these to a consensus opinion of three neurologists. All definitions were then evaluated against 5-year disease outcomes post-assignment of secondary progressive multiple sclerosis: sustained disability, subsequent sustained progression, positive disability trajectory, and accumulation of severe disability. The five best performing definitions were further investigated for their timeliness and overall disability burden. A total of 17 356 patients were analysed. The best definition included a 3-strata progression magnitude in the absence of a relapse, confirmed after 3 months within the leading Functional System and required an Expanded Disability Status Scale step ≥4 and pyramidal score ≥2. It reached an accuracy of 87% compared to the consensus diagnosis. Seventy-eight per cent of the identified patients showed a positive disability trajectory and 70% reached significant disability after 5 years. The time until half of all patients were diagnosed was 32.6 years (95% confidence interval 32-33.6) after disease onset compared with the physicians' diagnosis at 36 (35-39) years. The identified patients experienced a greater disease burden [median annualized area under the disability-time curve 4.7 (quartiles 3.6, 6.0)] versus non-progressive patients [1.8 (1.2, 1.9)]. This objective definition of secondary progressive multiple

  8. Pediatric multiple sclerosis: Cognition and mood.

    PubMed

    Amato, Maria Pia; Krupp, Lauren B; Charvet, Leigh E; Penner, Iris; Till, Christine

    2016-08-30

    In comparison with the large body of evidence on cognitive functioning in adults with multiple sclerosis (MS), there is limited information on cognition in pediatric-onset MS (POMS). Unique vulnerabilities in POMS can derive from having a disease that occurs during key periods of age-expected brain growth, active myelination in the CNS, and maturation of neural networks during the learning curve and key formative years in the academic career of the patient. Therefore, the consequences of MS on developing cognitive faculties can be assessed only in the pediatric population and cannot be simply extrapolated from studies carried on in the adult population. Until the last decade, research in the pediatric population was mainly represented by small clinical series, often limited by the narrow scope of neuropsychological assessment and lack of adequate control groups. Over the last decade, however, cognitive functioning and mood-related difficulties have become an increasing concern as awareness of this population has grown. A few specialized MS centers have begun performing more systematic research in the field in order to assess the prevalence of cognitive impairments and mood-related difficulties in patients with POMS, to better characterize the neuropsychological pattern and determine the functional consequences of these problems. This chapter summarizes our current understanding of cognitive and mood-related difficulties in POMS and highlights perceived gaps in knowledge and priorities for future research.

  9. Amyotrophic lateral sclerosis

    PubMed Central

    Wijesekera, Lokesh C; Leigh, P Nigel

    2009-01-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Incidence (average 1.89 per 100,000/year) and prevalence (average 5.2 per100,000) are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male prevalence (M:F ratio~1.5:1). Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset) and present with symptoms related to focal muscle weakness and wasting, where the symptoms may start either distally or proximally in the upper and lower limbs. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1–2 years. Paralysis is progressive and leads to death due to respiratory failure within 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases. Most ALS cases are sporadic but 5–10% of cases are familial, and of these 20% have a mutation of the SOD1 gene and about 2–5% have mutations of the TARDBP (TDP-43) gene. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease) by appropriate investigations. The pathological hallmarks comprise loss of motor neurones with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurones and TDP-43 immunoreactive inclusions in

  10. [Nodular regenerative hyperplasia as a complication of thiopurine treatment in a patient with inflammatory bowel disease].

    PubMed

    Cohen-Ezra, Oranit; Avni, Yona; Morgenstern, Sara; Ben-Ari, Ziv

    2012-12-01

    Immunomodulator therapy with thiopurine analogues azathioprine or 6-mercaptopurine is commonly prescribed for the treatment of organ transplantation, inflammatory bowel disease, autoimmune diseases and malignancies. Hepatotoxicity due to thiopurine analogues usually presents as an increase in serum transaminase levels. Toxicity is usually not severe, and a dose reduction is effective in most patients. Nodular regenerative hyperplasia (NRH) is a very rare but potentially severe complication of thiopurine-containing therapy. NRH is often asymptomatic, neither biochemical nor molecular markers are indicative for NRH. The suspicion rises when there are clinical symptoms of portal hypertension or increases in transaminases levels orthrombocytopenia. Liver biopsy is essential for definitive diagnosis. This is a case report of a 40-year-old male patient with Crohn's disease who developed increased serum levels of liver enzymes and thrombocytopenia following the administration of thiopurine. Although treatment with thiopurine was discontinued, he has further progressed and presented with acute variceal bleeding due to portal hypertension. The diagnosis of nodular regenerative hyperplasia was proven by a liver biopsy. In conclusion, NRH is a very rare but potentially severe complication of thiopurine-containing immunosuppressive therapy for IBD.

  11. Nodular thyroid disease in children and adolescents: a high incidence of carcinoma

    SciTech Connect

    McHenry, C.; Smith, M.; Lawrence, A.M.; Jarosz, H.; Paloyan, E.

    1988-07-01

    Over a period of 32 years from 1954 to 1986, 65 patients under the age of 21 years, 52 girls and 13 boys, were operated for nodular thyroids: the overall incidence of carcinoma was 37 per cent. It was 46 per cent in those patients presenting with a solitary nodule. Among the 24 patients with a malignancy, the carcinoma was of the papillary variety in 63 per cent, follicular in 25 per cent and medullary in 12 per cent. Two thirds of the patients had metastatic disease at the time of presentation. All patients with thyroid carcinoma were treated with total thyroidectomy. Other measures included neck dissection and radioactive iodine. When the eight patients with a history of head and neck irradiation and the three patients with medullary carcinoma were excluded, the incidence of carcinoma was 28 per cent. In summary, in spite of the decline in radiation associated cases, the incidence of carcinoma in nodular thyroid disease in the population under 21 years, remains at the relatively high figure of 28 per cent.

  12. Nodular histogenetic type -- the most significant factor for thick melanoma: implications for prevention.

    PubMed

    Bergenmar, M; Ringborg, U; Månsson Brahme, E; Brandberg, Y

    1998-10-01

    Tumour thickness is the most important prognostic factor in malignant melanoma. To reduce the melanoma-related mortality, factors related to the presentation of thick melanoma have to be identified. Three samples of melanoma patients (n=694) were studied for this purpose. Histogenetic type was the only factor which differentiated between 'thin' (< or = 0.8 mm) and 'thick' (> 2.0 mm) lesions. During a 10-year period only 3% of the nodular lesions were 'thin' at diagnosis. Differences in knowledge about melanoma or the location of the lesion (either 'easy' or 'difficult' for the patient to observe) did not explain differences in tumour thickness. The most common tumour site irrespective of histogenetic type and gender was 'back of the trunk'. 'Increase in diameter' and 'bleeding' were the symptoms most frequently reported by patients with 'thick' melanoma. 'Thick' lesions were diagnosed in older age groups and in men to a greater extent. Considering these results, melanoma prevention should also be targeted to older age groups and attention should be paid to symptoms such as 'increase in diameter' even in the absence of other characteristic symptoms of melanoma. An increased proportion of nodular melanoma diagnosed as 'thin' lesions can be interpreted as a step forward in secondary prevention.

  13. Mucinous versus nonmucinous solitary pulmonary nodular bronchioloalveolar carcinoma: CT and FDG PET findings and pathologic comparisons.

    PubMed

    Lee, Ho Yun; Lee, Kyung Soo; Han, Joungho; Kim, Byung-Tae; Cho, Young-Seok; Shim, Young Mog; Kim, Jhingook

    2009-08-01

    We aimed to evaluate the CT, PET, and pathologic findings of solitary pulmonary nodular mucinous and nonmucinous bronchioloalveolar carcinomas (BACs). From August 2003 to March 2008, we saw 24 patients with solitary pulmonary nodular mucinous (n=6) or nonmucinous (n=18) BACs that were resected. CT and PET findings of the lesions were assessed in terms of size, solidity, morphologic characteristics, attenuation and maximum standardized uptake value (mSUV). All nonmucinous BACs appeared as a pure ground-glass opacity (GGO) nodule, whereas mucinous BACs appeared as solid (n=4) or part-solid (n=2) nodules. CT attenuation values were significantly higher for mucinous BACs (-21.0 HU+/-4.9) than for nonmucinous BACs (-491.8 HU+/-172.5) (P<.001). Mean mSUVs were 2.3+/-1.9 for mucinous BACs and 0.5+/-0.8 for nonmucinous BACs (P=.007), but mSUVs were not statistically different after size adjustment (r=0.371, P=.081). Mucinous BACs appear as solid or part-solid nodules at CT, whereas nonmucinous BACs present as pure GGO nodules. Both subtypes of tumors show scant FDG uptake at PET.

  14. Total versus bilateral subtotal thyroidectomy for benign multi-nodular goiter

    PubMed Central

    Ciftci, Fatih; Sakalli, Erdal; Abdurrahman, Ibrahim

    2015-01-01

    Purpose: To compare the postoperative early-stage complications of total and bilateral subtotal thyroidectomy for benign multi-nodular goiter. Material and methods: There were 409 patients. The patients were divided into two groups. A total of 258 (63%) patients underwent total thyroidectomy, and 151 (37%) patients underwent bilateral subtotal thyroidectomy. Results: Recurrent laryngeal nerve palsy occurred in six (2.3%) of the total thyroidectomy patients and in three (1.9%) of the bilateral subtotal thyroidectomy patients (P>0.05). No permanent palsy was observed in either of the thyroidectomy groups. Hypocalcemia occurred in 40 (15.5%) of the total thyroidectomy patients and in 27 (17.8%) of those who underwent bilateral subtotal thyroidectomy (P>0.05). Also, no statistically significant differences were found between the two groups with respect to the development rates of hematoma and incision site infection (P>0.05). Conclusion: Because of its low complication rates, total thyroidectomy is a safe procedure for benign multı-nodular goiter. PMID:26064391

  15. Prosthetic aspects in adult osteopetrosis.

    PubMed

    Ogino, Yoichiro; Ayukawa, Yasunori; Tomita, Yoko; Koyano, Kiyoshi

    2014-10-01

    Osteopetrosis (OP) is a rare condition characterized by skeletal sclerosis caused by dysfunctional osteoclasts. Though many reports have described severe infantile-malignant autosomal recessive OP, few have described the prosthetic management of adult OP. This report discusses the prosthetic treatment of adult OP. Although prosthodontists should try to reconstruct occlusal function as much as possible, a conservative prosthodontic approach may be a reasonable and recommended treatment option for minimizing the risk of further osteomyelitis and osteonecrosis.

  16. The role of immune cells, glia and neurons in white and gray matter pathology in multiple sclerosis.

    PubMed

    Mallucci, Giulia; Peruzzotti-Jametti, Luca; Bernstock, Joshua D; Pluchino, Stefano

    2015-04-01

    Multiple sclerosis is one of the most common causes of chronic neurological disability beginning in early to middle adult life. Multiple sclerosis is idiopathic in nature, yet increasing correlative evidence supports a strong association between one's genetic predisposition, the environment and the immune system. Symptoms of multiple sclerosis have primarily been shown to result from a disruption in the integrity of myelinated tracts within the white matter of the central nervous system. However, recent research has also highlighted the hitherto underappreciated involvement of gray matter in multiple sclerosis disease pathophysiology, which may be especially relevant when considering the accumulation of irreversible damage and progressive disability. This review aims at providing a comprehensive overview of the interplay between inflammation, glial/neuronal damage and regeneration throughout the course of multiple sclerosis via the analysis of both white and gray matter lesional pathology. Further, we describe the common pathological mechanisms underlying both relapsing and progressive forms of multiple sclerosis, and analyze how current (as well as future) treatments may interact and/or interfere with its pathology. Understanding the putative mechanisms that drive disease pathogenesis will be key in helping to develop effective therapeutic strategies to prevent, mitigate, and treat the diverse morbidities associated with multiple sclerosis.

  17. Caring for Children With Tuberous Sclerosis Complex: What Is the Physical and Mental Health Impact on Caregivers?

    PubMed

    Rentz, Anne M; Skalicky, Anne M; Pashos, Chris L; Liu, Zhimei; Magestro, Matthew; Pelletier, Corey L; Prestifilippo, Judith A; Nakagawa, JoAnne; Frost, Michael D; Dunn, David W; Wheless, James W

    2015-10-01

    Disease burden associated with tuberous sclerosis complex, a genetic disorder characterized by benign tumor growth including lesions in multiple organs, puts tremendous demands on families. This analysis examines the physical and mental health burden of tuberous sclerosis complex caregivers in the United States. An institutional review board-approved web-based survey of tuberous sclerosis complex caregivers collected information; descriptive analyses were conducted on age-based subgroups. A total of 275 caregivers of tuberous sclerosis complex patients responded. Mean patient age ≤ 18 years was 6.9 (±4.4) and 42.3 (±18.2) for patients >18 years of age. Caregivers reported multiple tuberous sclerosis complex manifestations and high health care utilization for patients. Caregivers spending more time on doctor visits or researching tuberous sclerosis complex had lower physical and mental health-related quality of life scores and more depressive symptoms. Tuberous sclerosis complex caregivers had significantly lower physical and mental health-related quality of life scores and more depressive symptomatology compared to US healthy adult population norms.

  18. The role of immune cells, glia and neurons in white and gray matter pathology in multiple sclerosis

    PubMed Central

    Bernstock, Joshua D.; Pluchino, Stefano

    2015-01-01

    Multiple sclerosis is one of the most common causes of chronic neurological disability beginning in early to middle adult life. Multiple sclerosis is idiopathic in nature, yet increasing correlative evidence supports a strong association between one’s genetic predisposition, the environment and the immune system. Symptoms of multiple sclerosis have primarily been shown to result from a disruption in the integrity of myelinated tracts within the white matter of the central nervous system. However, recent research has also highlighted the hitherto underappreciated involvement of gray matter in multiple sclerosis disease pathophysiology, which may be especially relevant when considering the accumulation of irreversible damage and progressive disability. This review aims at providing a comprehensive overview of the interplay between inflammation, glial/neuronal damage and regeneration throughout the course of multiple sclerosis via the analysis of both white and gray matter lesional pathology. Further, we describe the common pathological mechanisms underlying both relapsing and progressive forms of multiple sclerosis, and analyze how current (as well as future) treatments may interact and/or interfere with its pathology. Understanding the putative mechanisms that drive disease pathogenesis will be key in helping to develop effective therapeutic strategies to prevent, mitigate, and treat the diverse morbidities associated with multiple sclerosis. PMID:25802011

  19. Pediatric Multiple Sclerosis: Current Concepts and Consensus Definitions

    PubMed Central

    Pena, Joaquin A.; Lotze, Timothy E.

    2013-01-01

    Multiple sclerosis (MS), a chronic inflammatory autoimmune disease of the central nervous system (CNS) commonly diagnosed in adults, is being recognized increasingly in children. An estimated 1.7%–5.6% of all patients with MS have clinical symptoms before reaching the age of 18 years. In comparison with adults, the diagnosis of MS in children can be more difficult, being dismissed or misdiagnosed as other clinical disorders. Although adults and children share basic aspects of the disorder, children have distinctive clinical features, neuroimaging, laboratory, and courses of the disease. The 2010 McDonald criteria have simplified the requirements for establishing the diagnosis of MS and have been proposed to be applicable for the diagnosis of pediatric MS, mainly in children 12 years and older. This paper describes the distinctive features of common pediatric demyelinating disorders, including MS, and summarizes the most recent advances based on the available literature. PMID:24294520

  20. Bilateral Periventricular Nodular Heterotopia and Lissencephaly in an Infant with Unbalanced t(12;17)(q24.31; p13.3) Translocation

    ERIC Educational Resources Information Center

    Grosso, Salvatore; Fichera, Marco; Galesi, Ornella; Luciano, Daniela; Pucci, Lucia; Giardini, Francesca; Berardi, Rosario; Balestri, Paolo

    2008-01-01

    Periventricular nodular heterotopia and Miller-Dieker syndrome are two different disorders of brain development. Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene ("LIS1"). Periventricular nodular heterotopia is characterized by aggregates of grey matter adjacent to the lateral ventricle…

  1. Multiple sclerosis in children: clinical, diagnostic, and therapeutic aspects.

    PubMed

    Rostásy, Kevin

    2007-01-01

    Multiple sclerosis (MS) is the most common inflammatory disease of human central nervous system (CNS), which is characterized by inflammatory demyelination and neuroaxonal injury/loss. The majority of MS patients are diagnosed in early- to mid-adulthood; however, the onset of MS in childhood is being increasingly recognized. Although adults and children share important aspects of the disease, several features including course of the disease and a broader differential diagnosis are unique to children. This chapter summarizes recent insights and emphasizes that children with MS should be started on immunomodulatory therapies early in order to prevent future disability.

  2. Exercising with multiple sclerosis: insights into meaning and motivation.

    PubMed

    Kasser, Susan

    2009-07-01

    The purpose of this phenomenological study was to explore the meaning of exercise in the lives of individuals with multiple sclerosis (MS) and describe the motivational basis that contributed to their exercise involvement. Twelve adults with MS (10 females, 2 males) between the ages of 32 and 56 years were interviewed. Analysis of transcribed interviews used an inductive approach. Three major themes emerged from thematic analysis of the qualitative data: exercising to maintain function and health, enhanced exercise self-efficacy, and feelings of hope and optimism. Findings were interpreted within the conceptual framework of self-efficacy and a disability-only social context.

  3. Epidemiology of multiple sclerosis.

    PubMed

    Leray, E; Moreau, T; Fromont, A; Edan, G

    2016-01-01

    Multiple sclerosis (MS) is the most frequently seen demyelinating disease, with a prevalence that varies considerably, from high levels in North America and Europe (>100/100,000 inhabitants) to low rates in Eastern Asia and sub-Saharan Africa (2/100,000 population). Knowledge of the geographical distribution of the disease and its survival data, and a better understanding of the natural history of the disease, have improved our understanding of the respective roles of endogenous and exogenous causes of MS. Concerning mortality, in a large French cohort of 27,603 patients, there was no difference between MS patients and controls in the first 20 years of the disease, although life expectancy was reduced by 6-7 years in MS patients. In 2004, the prevalence of MS in France was 94.7/100,000 population, according to data from the French National Health Insurance Agency for Salaried Workers (Caisse nationale d'assurance maladie des travailleurs Salariés [CNAM-TS]), which insures 87% of the French population. This prevalence was higher in the North and East of France. In several countries, including France, the gender ratio for MS incidence (women/men) went from 2/1 to 3/1 from the 1950s to the 2000s, but only for the relapsing-remitting form. As for risk factors of MS, the most pertinent environmental factors are infection with Epstein-Barr virus (EBV), especially if it arises after childhood and is symptomatic. The role of smoking in MS risk has been confirmed, but is modest. In contrast, vaccines, stress, traumatic events and allergies have not been identified as risk factors, while the involvement of vitamin D has yet to be confirmed. From a genetic point of view, the association between HLA-DRB1*15:01 and a high risk of MS has been known for decades. More recently, immunogenetic markers have been identified (IL2RA, IL7RA) and, in particular thanks to studies of genome-wide associations, more than 100 genetic variants have been reported. Most of these are involved in

  4. Acoustic reflex patterns in amyotrophic lateral sclerosis.

    PubMed

    Canale, Andrea; Albera, Roberto; Lacilla, Michelangelo; Canosa, Antonio; Albera, Andrea; Sacco, Francesca; Chiò, Adriano; Calvo, Andrea

    2017-02-01

    The aim of the study is to investigate acoustic reflex testing in amyotrophic lateral sclerosis patients. Amplitude, latency, and rise time of stapedial reflex were recorded for 500 and 1000 Hz contralateral stimulus. Statistical analysis was performed by the Wilcoxon test and the level of significance was set at 5 %. Fifty-one amyotrophic lateral sclerosis patients and ten sex- and age-matched control subjects were studied. Patients were further divided in two groups: amyotrophic lateral sclerosis-bulbar (38 cases, with bulbar signs at evaluation) and amyotrophic lateral sclerosis-spinal (13 cases, without bulbar signs at evaluation). Stapedial reflex was present in all patients. There was a statistically significant difference in the mean amplitude, latency, and rise time between the amyotrophic lateral sclerosis patients as compared with the controls. Amplitude was lower in both the amyotrophic lateral sclerosis-bulbar and the amyotrophic lateral sclerosis-spinal patients than in the controls (p < 0.05) and rise time was longer in both patient groups compared with the controls (p < 0.05). These results confirm the presence of abnormal acoustic reflex patterns in amyotrophic lateral sclerosis cases with bulbar signs and, moreover, suggesting a possible subclinical involvement of the stapedial motor neuron even in amyotrophic lateral sclerosis-spinal patients. Amplitude and rise time seem to be good sensitive parameters for investigating subclinical bulbar involvement.

  5. Cochlear implantation in a profoundly deaf patient who also suffers from multiple sclerosis--a case study.

    PubMed

    Shanbhag, Jyoti; Vaid, Neelam

    2010-06-01

    Outcomes of cochlear implantation in individuals with known central nervous system conditions are varied. Long-standing deafness is also thought to correlate negatively with auditory performance in post-linguistically deaf adult implant users. We present a case study of cochlear implantation in a post-lingual adult having bilateral profound hearing loss for over 30 years in addition to multiple sclerosis unrelated to his deafness. Assessment of benefit in terms of speech-perception ability and quality of life reveal that long-term auditory deprivation and co-incidental multiple sclerosis are not a contraindication for cochlear implantation.

  6. Treating multiple sclerosis with natalizumab.

    PubMed

    Iaffaldano, Pietro; Lucchese, Guglielmo; Trojano, Maria

    2011-12-01

    Natalizumab is the first monoclonal antibody approved for the treatment of relapsing multiple sclerosis. Pivotal trials demonstrated the efficacy of natalizumab on clinical and paraclinical measures of disease activity and disability progression. Although a direct comparison has not been performed yet, natalizumab seems to be more efficacious than the currently available immunomodulant drugs, such as IFN-β and glatiramer acetate. Despite its efficacy, the occurrence of an increased risk of progressive multifocal leukoencephalopathy with the treatment, raises concerns about its widespread use in multiple sclerosis patients. This paper provides an overview of the most relevant results from the Phase I-IV studies on natalizumab and highlights the challenges addressed to minimize and manage its adverse events in clinical practice.

  7. Tolerogenic vaccines for Multiple sclerosis.

    PubMed

    Mannie, Mark D; Curtis, Alan D

    2013-05-01

    Tolerogenic vaccines represent a new class of vaccine designed to re-establish immunological tolerance, restore immune homeostasis, and thereby reverse autoimmune disease. Tolerogenic vaccines induce long-term, antigen-specific, inhibitory memory that blocks pathogenic T cell responses via loss of effector T cells and gain of regulatory T cell function. Substantial advances have been realized in the generation of tolerogenic vaccines that inhibit experimental autoimmune encephalomyelitis in a preclinical setting, and these vaccines may be a prequel of the tolerogenic vaccines that may have therapeutic benefit in Multiple Sclerosis. The purpose here is to provide a snapshot of the current concepts and future prospects of tolerogenic vaccination for Multiple Sclerosis, along with the central challenges to clinical application.

  8. Multiple sclerosis - New treatment modalities

    PubMed Central

    Totaro, Rocco; Di Carmine, Caterina; Marini, Carmine; Carolei, Antonio

    2015-01-01

    Ever since the introduction of the first disease modifying therapies, the concept of multiple sclerosis treatment algorithms developed ceaselessly. The increasing number of available drugs is paralleled by impelling issue of ensuring the most appropriate treatment to the right patient at the right time. The purpose of this review is to describe novel agents recently approved for multiple sclerosis treatment, namely teriflunomide, alemtuzumab and dimethylfumarate, focusing on mechanism of action, efficacy data in experimental setting, safety and tolerability. The place in therapy of newer treatment implies careful balancing of risk-benefit profile as well as accurate patient selection. Hence the widening of therapeutic arsenal provides greater opportunity for personalized therapy but also entails a complex trade-off between efficacy, tolerability, safety and eventually patient preference. PMID:26831413

  9. Multiple Sclerosis Epidemiology in Europe.

    PubMed

    Bezzini, Daiana; Battaglia, Mario A

    2017-01-01

    Multiple sclerosis is characterized by a non-homogeneous distribution around the world. Some authors in past described a latitude gradient, with increasing risk from the equator to North and South Poles, but this theory is still controversial. Regarding Europe, there are many articles in the literature concerning the epidemiology of this disease but, unfortunately, they are not always comparable due to different methodologies, they do not cover all countries in the continent, and most of them reported data of small areas and rarely at a national level. In 2012 there were 20 national registries that could help to describe the epidemiology of the disease and, in addition, there is an European Register for Multiple Sclerosis that collect data from already existing national or regional MS registries and databases. Another valid alternative to obtain epidemiological data, also at national level, in a routinely and cost-saving way is through administrative data that are of increasing interest in the last years.

  10. [Special cases of multiple sclerosis].

    PubMed

    Mendibe Bilbao, Mar

    2014-12-01

    Multiple sclerosis is a chronic disease that usually occurs in young people and affects them for the rest of their lives. Patients and their families usually have a series of doubts and questions on everyday matters and all types of situations that occur during the distinct stages of life and which can influence the course of the disease. The aim of this review is to provide specific answers to these questions.

  11. Bipolar disorder and multiple sclerosis.

    PubMed

    Ybarra, Mariana Inés; Moreira, Marcos Aurélio; Araújo, Carolina Reis; Lana-Peixoto, Marco Aurélio; Teixeira, Antonio Lucio

    2007-12-01

    Bipolar disorder may be overrepresented in multiple sclerosis (MS) patients. Although research in this area is limited, studies assessing the nature of this association have focused on genetic aspects, adverse reaction to drugs and brain demyelinating lesions. Herein we report three patients with MS that also presented bipolar disorder. The coexistence of neurological and psychiatric symptoms in most MS relapses highlights the relevance of biological factors in the emergence of mood disorders in these patients.

  12. Serum autoantibodies to myelin peptides distinguish acute disseminated encephalomyelitis from relapsing-remitting multiple sclerosis

    PubMed Central

    Van Haren, Keith; Tomooka, Beren H; Kidd, Brian A; Banwell, Brenda; Bar-Or, Amit; Chitnis, Tanuja; Tenembaum, Silvia N; Pohl, Daniela; Rostasy, Kevin; Dale, Russell C; O’Connor, Kevin C; Hafler, David A; Steinman, Lawrence; Robinson, William H

    2015-01-01

    Background and objective Acute disseminated encephalomyelitis (ADEM) and relapsing remitting multiple sclerosis share overlapping clinical, radiologic, and laboratory features at onset. Because autoantibodies may contribute to the pathogenesis of both diseases, we sought to identify autoantibody biomarkers capable of distinguishing them. Methods We used custom antigen arrays to profile anti-myelin-peptide autoantibodies in sera derived from individuals with pediatric ADEM (n = 15), pediatric multiple sclerosis (n = 11), and adult multiple sclerosis (n = 15). Using isotype-specific secondary antibodies,we profiled both IgG and IgM reactivities. We used Statistical Analysis of Microarrays to confirm differences in autoantibody reactivity profiles between ADEM and multiple sclerosis samples. We used Prediction Analysis of Microarrays to generate and validate prediction algorithms based on the autoantibody reactivity profiles. Results ADEM was characterized by IgG autoantibodies targeting epitopes derived from myelin basic protein, proteolipid protein, myelin-associated oligodendrocyte basic glycoprotein, and alpha-B-crystallin. In contrast, multiple sclerosis was characterized by IgM autoantibodies targeting myelin basic protein, proteolipid protein, myelin-associated oligodendrocyte basic glycoprotein, and oligodendrocyte specific protein. We generated and validated prediction algorithms that distinguish ADEM serum (sensitivity 62–86%; specificity 56–79%) from multiple sclerosis serum (sensitivity 40–87%; specificity 62–86%) on the basis of combined IgG and IgM anti-myelin autoantibody reactivity to a small number of myelin peptides. Conclusions Combined profiles of serum IgG and IgM autoantibodies identify myelin antigens that may be useful for distinguishing multiple sclerosis from ADEM. Further studies are required to establish clinical utility. Further biological assays are required to delineate the pathogenic potential of these antibodies. PMID:23612879

  13. A discrete-choice experiment to determine patient preferences for injectable multiple sclerosis treatments in Germany

    PubMed Central

    Poulos, Christine; Kinter, Elizabeth; Yang, Jui-Chen; Bridges, John F. P.; Posner, Joshua; Gleißner, Erika; Mühlbacher, Axel; Kieseier, Bernd

    2016-01-01

    Objectives: The aim of this study was to assess the relative importance of features of a hypothetical injectable disease-modifying treatment for patients with multiple sclerosis using a discrete-choice experiment. Methods: German residents at least 18 years of age with a self-reported physician diagnosis of multiple sclerosis completed a 25–30 minute online discrete-choice experiment. Patients were asked to choose one of two hypothetical injectable treatments for multiple sclerosis, defined by different levels of six attributes (disability progression, the number of relapses in the next 4 years, injection time, frequency of injections, presence of flu-like symptoms, and presence of injection-site reactions). The data were analyzed using a random-parameters logit model. Results: Of 202 adults who completed the survey, results from 189 were used in the analysis. Approximately 50% of all patients reported a diagnosis of relapsing–remitting multiple sclerosis, and 31% reported secondary progressive multiple sclerosis. Approximately 71% of patients had current or prior experience with injectable multiple sclerosis medication. Approximately 53% had experienced flu-like symptoms caused by their medication, and 47% had experienced mild injection-site reactions. At least one significant difference was seen between levels in all attributes, except injection time. The greatest change in relative importance between levels of an attribute was years until symptoms get worse from 1 to 4 years. The magnitude of this difference was about twice that of relapses in the next 4 years, frequency of injections, and flu-like symptoms. Conclusions: Most attributes examined in this experiment had an influence on patient preference. Patients placed a significant value on improvements in the frequency of dosing and disability progression. Results suggest that changes in injection frequency can be as important as changes in efficacy and safety attributes. Understanding which attributes of

  14. Graves Disease Induced by Radioiodine Therapy for Toxic Nodular Goiter: A Case Report

    PubMed Central

    Yürekli, Yakup; Cengiz, Arzu; Güney, Engin

    2015-01-01

    Graves’ disease (GD) may be observed as an infrequent adverse effect after radioiodine therapy (RAIT) for toxic thyroid adenoma (TA) and toxic multi nodular goiter (MNG). We present a case of a 55-year-old male with a toxic nodule who was treated with RAI. After therapy, the patient’s serum free triiodothyronine (fT3) and free thyroxine (fT4) levels gradually increased. Antithyroid peroxidase (TPOAb), antithyroglobulin (TgAb) and TSH-receptor antibodies (TRAb) were also positive. Thyroid scintigraphy revealed diffuse intense uptake after four months of RAIT. Radiation-induced GD should be considered in patients with aggravated hyperthyroidism 3-4 months after therapy. PMID:27529890

  15. Rheumatoid pleural effusion with nodular pleuritis. A rare presentation of rheumatoid arthritis.

    PubMed

    Emmungil, H; Yıldız, F; Gözükara, M Y; Açıkalın, A

    2015-02-01

    Rheumatoid pleural effusion and lung nodules are unusual complications of rheumatoid disease that typically present subsequently to other more common manifestations of rheumatoid illness. However, these complications may occasionally occur before or concurrently with the development of joint manifestations of disease. We report the case of a 41-year-old female patient with rheumatoid pleural effusion and lung nodule arising simultaneously with the onset of joint symptoms. The patient underwent thoracentesis followed by video-assisted thoracoscopic biopsy to result in a diagnosis of rheumatoid pleuritis and nodular disease. A high index of suspicion and coexistence of the cytologic and histopathologic effusion picture characteristic of rheumatoid pleuritis are of clinical importance in making a diagnosis.

  16. Horner's syndrome following a subtotal thyroidectomy for a benign nodular goitre.

    PubMed

    Aslankurt, Murat; Aslan, Lokman; Colak, Mustafa; Aksoy, Adnan

    2013-06-13

    We present a case of Horner's syndrome occurring as a complication of thyroidectomy. A 42-year-old female patient presented with eyelid drop which developed immediately after thyroidectomy for goitre. Ophthalmic examination revealed eyelid ptosis, miosis and anhidrosis. Preoperative ultrasonography showed multiple isohyperechogenic solid nodules in each lobe, consistent with multinodular goitre. Therefore, the patient underwent subtotal thyroidectomy. The ophthalmic findings did not improve at the end of 6 months follow-up. Similar cases have been reported related to neck tumours or their surgery, mediastinum-located goitre and retropharyngeal abscess surgeries, but not after benign nodular goitre surgery. Several possible mechanisms have been proposed to explain this phenomenon; anatomical variations making the patient susceptible to damage to the sympathetic chain seem to be most likely in our patient.

  17. Photodynamic therapy of nodular basal cell carcinoma with multifiber contact light delivery.

    PubMed

    Thompson, Marcelo Soto; Andersson-Engels, Stefan; Svanberg, Sune; Johansson, T; Palsson, Sara; Bendsoe, Niels; Derjabo, A; Kapostins, J; Stenram, Unne; Spigulis, J; Svanberg, Katarina

    2006-01-01

    To overcome the limited treatment depth of superficial photodynamic therapy we investigate interstitial light delivery. In the present work the treatment light was delivered using a system in which three or six clear-cut fibers were placed in direct contact with the tumor area. This placement was thought to represent a step toward general purpose interstitial PDT. Twelve nodular basal cell carcinomas were treated employing delta-aminolevulinic acid and 635 nm laser irradiation. Fluorescence measurements were performed monitoring the buildup and subsequent bleaching of the produced sensitizer protoporphyrin IX. The treatment efficacy, judged at a 28-month follow-up, showed a 100% complete response. Two punch excisions at 7 months converted two partial responses to complete responses. One patient failed to appear at all follow-up sessions. The outcome of the treatments was comparable to superficial photodynamic therapy in terms of histological, clinical, and cosmetic results.

  18. Gray matter volumes and cognitive ability in the epileptogenic brain malformation of periventricular nodular heterotopia.

    PubMed

    Walker, Linsey M; Katzir, Tami; Liu, Tianming; Ly, Jenny; Corriveau, Kathleen; Barzillai, Mirit; Chu, Felicia; O'Connor, Margaret G; Hackney, David B; Chang, Bernard S

    2009-08-01

    Periventricular nodular heterotopia (PNH) is a brain malformation clinically characterized by the triad of epilepsy, normal intelligence, and dyslexia. We investigated the structure-function relationship between cerebral volumes and cognitive ability in this disorder by studying 12 subjects with PNH and 6 controls using volumetric analysis of high-resolution anatomical MRI and neuropsychological testing. Total cerebral volumes and specific brain compartment volumes (gray matter, white matter, and cerebrospinal fluid) in subjects with PNH were comparable to those in controls. There was a negative correlation between heterotopic gray matter volume and cortical gray matter volume. Cerebral and cortical volumes in PNH did not correlate with Full Scale IQ, unlike in normal individuals. Our findings support the idea that heterotopic nodules contain misplaced neurons that would normally have migrated to the cortex, and suggest that structural correlates of normal cognitive ability may be different in the setting of neuronal migration failure.

  19. Programmed death 1 expression in variant immunoarchitectural patterns of nodular lymphocyte predominant Hodgkin lymphoma: comparison with CD57 and lymphomas in the differential diagnosis.

    PubMed

    Churchill, Hywyn R O; Roncador, Giovanna; Warnke, Roger A; Natkunam, Yasodha

    2010-12-01

    Recent studies have exploited an antibody directed against programmed death 1 expressed by follicular helper T-cells in the diagnosis of nodular lymphocyte predominant Hodgkin lymphoma. We had previously described clinically relevant, variant immunoarchitectural patterns of nodular lymphocyte predominant Hodgkin lymphoma and, in this study, sought to address the diagnostic utility of programmed death 1 in comparison with CD57 in variant nodular lymphocyte predominant Hodgkin lymphoma. Immunohistologic staining for programmed death 1 was carried out on biopsies of 67 patients with variant nodular lymphocyte predominant Hodgkin lymphoma. Thirty-four additional cases of nodular lymphocyte predominant Hodgkin lymphoma with associated diffuse areas, de novo T-cell and histiocyte-rich large B-cell lymphoma, and lymphocyte-rich classic Hodgkin lymphoma were also studied. Our results show that programmed death 1 positivity was found in the majority of nodular lymphocyte predominant Hodgkin lymphoma cases with a classic nodular architecture (87%) as compared with 50% for CD57 and was particularly helpful in identifying extranodular large atypical cells. Nodular lymphocyte predominant Hodgkin lymphoma with diffuse areas showed a gradual decrease in programmed death 1 reactivity from nodular to diffuse areas, although a significant proportion (40%-50%) of cases retained programmed death 1 positivity also in diffuse areas. In addition, T-cell and histiocyte-rich large B-cell lymphoma and lymphocyte-rich classic Hodgkin lymphoma displayed programmed death 1 positivity in a significant subset of cases (33%-40%). In conclusion, our study supports the utility of programmed death 1 in the diagnosis of nodular lymphocyte predominant Hodgkin lymphoma and shows greater sensitivity of staining of programmed death 1 as compared with CD57 across all variants of nodular lymphocyte predominant Hodgkin lymphoma. Loss of programmed death 1 reactivity did not correlate with diffuse areas

  20. Treatment of nasal ala nodular congenital melanocytic naevus with carbon dioxide laser and Q-switched Nd:YAG laser.

    PubMed

    Zeng, Ying; Ji, Chenyang; Zhan, Kui; Weng, Weili

    2016-11-01

    Total excision of congenital melanocytic nevi (CMN) is not always feasible. We here present our experience of using carbon dioxide laser and Q-switched neodymium-doped yttrium-aluminum-garnet (Nd:YAG) laser to treat nodular CMN of the nasal ala. Q-switched Nd:YAG laser and/or carbon dioxide laser were used to treat eight cases of nasal ala nodular CMN. Carbon dioxide laser was utilized to ablate all visible melanocytic tissue within one session. Ablation was performed so as to reproduce the original anatomical contours as closely as possible. Recurrences were treated in the same way. Q-switched Nd:YAG laser was also used to irradiate all target lesions to achieve the desired end point within one session. The intervals between treatments were at least 8 weeks. Recurrence of melanocytic tissue, scar formation, pigmentation, depigmentation, and the degree of patient satisfaction were recorded at every visit. Two of the eight patients were treated with Q-switched Nd:YAG laser. Although, the lesion lightened in one of them, the hyperplastic tissue persisted. Eventually, these two patients, along with the remaining six patients, were successfully treated with a carbon dioxide laser. We recommend carbon dioxide laser treatment for nodular nasal CMN. This simple treatment does not involve skin flap transplantation and has good cosmetic outcomes. Although Q-switched Nd:YAG laser does lighten some nasal nodular CMNs, it does not eradicate the hyperplastic tissue, and is therefore not an effective treatment for nodular nasal CMN.

  1. Overview and diagnosis of multiple sclerosis.

    PubMed

    Hunter, Samuel F

    2016-06-01

    Multiple sclerosis (MS), a chronic inflammatory disease of unknown etiology, involves an immunemediated attack of the central nervous system (CNS) that produces demyelination and axonal/neuronal damage, resulting in characteristic multifocal lesions apparent on magnetic resonance imaging and a variety of neurologic manifestations. The disease pathology is characterized by multifocal lesions within the CNS, in both the white matter and gray matter, with perivenular inflammatory cell infiltrates, demyelination, axonal transection, neuronal degeneration, and gliosis. MS pathogenesis is complex, as it involves both T- and B-cell mechanisms and is heterogeneous in presentation. Relatively recently, the historical 4 core clinical categories of MS were revised in an effort to improve characterization of the clinical course, better identify where a given patient is positioned in the disease spectrum, and to guide clinical studies. In young and middle-aged adults, MS is one of the most common contributors to neurologic disability, and it exerts detrimental effects on a patient's productivity and health-related quality of life. Typically, patients with MS have a long life span, although healthcare utilization increases over time. As a consequence, the disease places a substantial burden on patients and their caregivers/families, as well as employers, the healthcare system, and society.

  2. [Medical-social aspects of multiple sclerosis].

    PubMed

    Vermersch, P; Marissal, J P

    2001-09-01

    On a daily basis the quality of life of patients suffering from multiple sclerosis (MS) partially depends on social measures. These are not specific to MS. Patients often need to be helped by hospital or town social services for the numerous and complicated administrative steps to be taken. The information given to a patient is of prime importance concerning his rights, particularly his occupational rights. Many organisations have to be contacted to obtain financial and material aids, even if the latter are considered insufficient in many fields especially for improvements in accommodation. An invalidity card may entitle its holder to certain tax reductions. The competences of the COTOREP are wide-ranging and include the recognition of the handicapped worker, his training and his regarding at work, his orientation and admission into a specialised structure, the degree of his invalidity rate and should his handicap justify it, benefits such as the handicapped adults allowance and the compensatory third person's allowance. It is essential to adopt a multidisciplinary way when dealing with MS in order to provide a better care, experiments in specialised structures and networks are being undertaken. Numerous partners are taking part in these new approaches and patient associations may find their place there. Social aspects have to be taken into account as well in the way the cost of the disease is evaluated in terms of money and humanity.

  3. Multiple sclerosis and pregnancy: current considerations.

    PubMed

    Buraga, Ioan; Popovici, Roxana-Elena

    2014-01-01

    Multiple sclerosis is the most common neurological disease of young adults that causes major disability. In Romania, it is estimated that this disease has a prevalence of 35-40 per 100,000 inhabitants. It is a disease that begins at the age of 20-40 years and is 2-3 times more common in women than in men. More than half of patients with MS develop the disease in their fertile period of life; therefore, MS patients use contraceptive methods while being under our treatment. Since several therapeutic options have been implemented with good efficiency in the disease stabilization, increasingly more patients begin to wonder about the possibility of having a child and about the possible risks of pregnancy. The evolution during pregnancy and the lactation period has been favorable, with lower relapses and side effects comparable to those in the general population. In addition, babies born to mothers with MS have not had a significantly different mean gestational age or birth weight compared to babies born to healthy mothers.

  4. Pediatric multiple sclerosis: Clinical features and outcome.

    PubMed

    Waldman, Amy; Ness, Jayne; Pohl, Daniela; Simone, Isabella Laura; Anlar, Banu; Amato, Maria Pia; Ghezzi, Angelo

    2016-08-30

    Multiple sclerosis (MS) in children manifests with a relapsing-remitting MS (RRMS) disease course. Acute relapses consist of new neurologic deficits persisting greater than 24 hours, in the absence of intercurrent illness, and occur with a higher frequency early in the disease as compared to adult-onset RRMS. Most pediatric patients with MS recover well from these early relapses, and cumulative physical disability is rare in the first 10 years of disease. Brainstem attacks, poor recovery from a single attack, and a higher frequency of attacks portend a greater likelihood of future disability. Although prospective pediatric-onset MS cohorts have been established in recent years, there remains very limited prospective data detailing the longer-term clinical outcome of pediatric-onset MS into adulthood. Whether the advent of MS therapies, and the largely off-label access to such therapies in pediatric MS, has improved prognosis is unknown. MS onset during the key formative academic years, concurrent with active cognitive maturation, is an important determinant of long-term outcome, and is discussed in detail in another article in this supplement. Finally, increasing recognition of pediatric MS worldwide, recent launch of phase III trials for new agents in the pediatric MS population, and the clear imperative to more fully appreciate health-related quality of life in pediatric MS through adulthood highlight the need for standardized, validated, and robust outcome measures.

  5. Pediatric multiple sclerosis: Escalation and emerging treatments.

    PubMed

    Chitnis, Tanuja; Ghezzi, Angelo; Bajer-Kornek, Barbara; Boyko, Alexey; Giovannoni, Gavin; Pohl, Daniela

    2016-08-30

    Over the last 20 years, there have been significant advances in multiple sclerosis (MS) therapeutics, with regulatory approval for 13 therapies in adults by the European Medicines Agency (EMA) and Food and Drug Administration. However, there is only limited approval for interferon-β and glatiramer acetate use in children 12 years and older by the EMA. Availability of disease-modifying therapies to children and adolescents with MS is variable by region, and is extremely limited in some regions of the world. Up to 30% of children experience breakthrough disease requiring therapies beyond traditional first-line agents. Recent legislation in both the United States and Europe has mandated clinical studies for all new therapeutics applicable to children. Several clinical trials in children are underway that will provide important information regarding the efficacy and safety of newer drugs. This review summarizes the current knowledge of breakthrough disease, escalation, and induction treatment approaches in children with MS, especially pertaining to disease course and disability outcomes in this group of patients. In addition, ongoing clinical trials and approaches and challenges in conducting clinical trials in the pediatric population are discussed.

  6. Demyelination of subcortical nuclei in multiple sclerosis

    NASA Astrophysics Data System (ADS)

    Krutenkova, E.; Aitmagambetova, G.; Khodanovich, M.; Bowen, J.; Gangadharan, B.; Henson, L.; Mayadev, A.; Repovic, P.; Qian, P.; Yarnykh, V.

    2016-02-01

    Myelin containing in basal ganglia in multiple sclerosis patients was evaluated using new noninvasive quantitative MRI method fast whole brain macromolecular proton fraction mapping. Myelin level in globus pallidus and putamen significantly decreased in multiple sclerosis patients as compared with healthy control subjects but not in substantia nigra and caudate nucleus.

  7. Systemic Sclerosis: Commonly Asked Questions by Rheumatologists

    PubMed Central

    Young, Amber; Khanna, Dinesh

    2016-01-01

    Systemic sclerosis is a rare autoimmune disorder with significant morbidity and mortality due to multi-organ system involvement. Early diagnosis and screening for organ involvement is critical as earlier treatment appears to improve function and may impact mortality. The purpose of this article is to address some of the commonly asked questions by rheumatologists on systemic sclerosis. PMID:25807095

  8. Interhemispheric disconnection effects in multiple sclerosis.

    PubMed Central

    Lindeboom, J; ter Horst, R

    1988-01-01

    Patients with multiple sclerosis reported less left ear numbers but more right ear numbers than controls in a dichotic listening test. The multiple sclerosis patients were also relatively impaired on three learning tasks; one of these, a test for paired-associate learning of names and faces, correlated with left ear findings; the results are interpreted as supporting a hypothesised disconnection mechanism. PMID:3236021

  9. [Disease-modifying drugs in pediatric patients with multiple sclerosis].

    PubMed

    Bykova, O V; Nankina, I A; Drozdova, I M; Kvasova, O V; Batysheva, T T; Boiko, A N

    2016-01-01

    The vast majority of therapies are being evaluated and introduced for the treatment of adult multiple sclerosis (MS). A role of these drugs in the management of pediatric MS has yet to be defined both in Russia and in the whole world. Despite the fact that today the study of new drugs in the pediatric population have included in routine practices of the big pharmaceutical agencies, such as FDA and EMA, recommendations for the treatment of pediatric patients with MS are based not so much on a long period of systematic clinical research, but on professional consensus of international expert associations, in particular, the International pediatric multiple sclerosis study group (IPMSSG). The clinical trials include the small number of patients which is not comparable to those conducted in adults. Therefore, there is a need for study designs for assessment of efficacy and safety of the drugs for MS treatment in children and adolescents. The authors present the IPMSSG concept on the treatment of pediatric MS taking into account peculiarities of the Russian legislation and experience of national experts.

  10. Diagnostic utility and limitations of glutamine synthetase and serum amyloid-associated protein immunohistochemistry in the distinction of focal nodular hyperplasia and inflammatory hepatocellular adenoma.

    PubMed

    Joseph, Nancy M; Ferrell, Linda D; Jain, Dhanpat; Torbenson, Michael S; Wu, Tsung-Teh; Yeh, Matthew M; Kakar, Sanjay

    2014-01-01

    Inflammatory hepatocellular adenoma can show overlapping histological features with focal nodular hyperplasia, including inflammation, fibrous stroma, and ductular reaction. Expression of serum amyloid-associated protein in inflammatory hepatocellular adenoma and map-like pattern of glutamine synthetase in focal nodular hyperplasia can be helpful in this distinction, but the pitfalls and limitations of these markers have not been established. Morphology and immunohistochemistry were analyzed in 54 inflammatory hepatocellular adenomas, 40 focal nodular hyperplasia, and 3 indeterminate lesions. Morphological analysis demonstrated that nodularity, fibrous stroma, dystrophic blood vessels, and ductular reaction were more common in focal nodular hyperplasia, while telangiectasia, hemorrhage, and steatosis were more common in inflammatory hepatocellular adenoma, but there was frequent overlap of morphological features. The majority of inflammatory hepatocellular adenomas demonstrated perivascular and/or patchy glutamine synthetase staining (73.6%), while the remaining cases had diffuse (7.5%), negative (3.8%), or patchy pattern of staining (15%) that showed subtle differences from the classic map-like staining pattern and was designated as pseudo map-like staining. Positive staining for serum amyloid-associated protein was seen in the majority of inflammatory hepatocellular adenomas (92.6%) and in the minority of focal nodular hyperplasia (17.5%). The glutamine synthetase staining pattern was map-like in 90% of focal nodular hyperplasia cases, with the remaining 10% of cases showing pseudo map-like staining. Three cases were labeled as indeterminate and showed focal nodular hyperplasia-like morphology but lacked map-like glutamine synthetase staining pattern; these cases demonstrated a patchy pseudo map-like glutamine synthetase pattern along with the expression of serum amyloid-associated protein. Our results highlight the diagnostic errors that can be caused by variant

  11. Multiple sclerosis beyond EDSS: depression and fatigue.

    PubMed

    Ziemssen, Tjalf

    2009-02-01

    Depression and fatigue are common symptoms of multiple sclerosis and are the primary determinants of impaired quality of life in this demyelinating neurological disease. The twelve-month prevalence of major depression in patients with multiple sclerosis is around 15%. Untreated depression is associated with suicidal ideation, impaired cognitive function and poor adherence to immunomodulatory treatment. For these reasons, systematic screening and management of depressive symptoms is recommended for all patients with multiple sclerosis. There is some evidence that interferon-beta treatment may exacerbate depressive symptoms and a switch to glatiramer acetate can be envisaged in patients treated with an interferon-beta in whom depressive symptoms become an issue. Fatigue is present in over three-quarters of patients with multiple sclerosis. It is considered the most debilitating symptom of the disease and is a major reason for work absenteeism. There is growing evidence that immunomodulatory treatments, in particular glatiramer acetate, improve fatigue symptoms in patients with multiple sclerosis.

  12. Endocannabinoids in Multiple Sclerosis and Amyotrophic Lateral Sclerosis.

    PubMed

    Pryce, Gareth; Baker, David

    2015-01-01

    There are numerous reports that people with multiple sclerosis (MS) have for many years been self-medicating with illegal street cannabis or more recently medicinal cannabis to alleviate the symptoms associated with MS and also amyotrophic lateral sclerosis (ALS). These anecdotal reports have been confirmed by data from animal models and more recently clinical trials on the ability of cannabinoids to alleviate limb spasticity, a common feature of progressive MS (and also ALS) and neurodegeneration. Experimental studies into the biology of the endocannabinoid system have revealed that cannabinoids have efficacy, not only in symptom relief but also as neuroprotective agents which may slow disease progression and thus delay the onset of symptoms. This review discusses what we now know about the endocannabinoid system as it relates to MS and ALS and also the therapeutic potential of cannabinoid therapeutics as disease-modifying or symptom control agents, as well as future therapeutic strategies including the potential for slowing disease progression in MS and ALS.

  13. [Driving ability with multiple sclerosis].

    PubMed

    Küst, J; Dettmers, C

    2014-07-01

    Driving is an important issue for young patients, especially for those whose walking capacity is impaired. Driving might support the patient's social and vocational participation. The question as to whether a patient with multiple sclerosis (MS) is restricted in the ability to drive a car depends on neurological and neuropsychological deficits, self-awareness, insight into deficits and ability to compensate for loss of function. Because of the enormous variability of symptoms in MS the question is highly individualized. A practical driving test under supervision of a driving instructor (possibly accompanied by a neuropsychologist) might be helpful in providing both patient and relatives adequate feedback on driving abilities.

  14. Spasticity management in multiple sclerosis.

    PubMed

    Hughes, Christina; Howard, Ileana M

    2013-11-01

    Spasticity is a prevalent and potentially disabling symptom common in individuals with multiple sclerosis. Adequate evaluation and management of spasticity requires a careful assessment of the patient's history to determine functional impact of spasticity and potential exacerbating factors, and physical examination to determine the extent of the condition and culpable muscles. A host of options for spasticity management are available: therapeutic exercise, physical modalities, complementary/alternative medicine interventions, oral medications, chemodenervation, and implantation of an intrathecal baclofen pump. Choice of treatment hinges on a combination of the extent of symptoms, patient preference, and availability of services.

  15. Evoked potentials in multiple sclerosis.

    PubMed

    Kraft, George H

    2013-11-01

    Before the development of magnetic resonance imaging (MRI), evoked potentials (EPs)-visual evoked potentials, somatosensory evoked potentials, and brain stem auditory evoked responses-were commonly used to determine a second site of disease in patients being evaluated for possible multiple sclerosis (MS). The identification of an area of the central nervous system showing abnormal conduction was used to supplement the abnormal signs identified on the physical examination-thus identifying the "multiple" in MS. This article is a brief overview of additional ways in which central nervous system (CNS) physiology-as measured by EPs-can still contribute value in the management of MS in the era of MRIs.

  16. Diagnosis of amyotrophic lateral sclerosis.

    PubMed

    Rowland, L P

    1998-10-01

    This review of the differential diagnosis of amyotrophic lateral sclerosis focuses on two themes. The first is practical, how to establish the diagnosis based primarily on clinical findings buttressed by electrodiagnosis. The main considerations are multifocal motor neuropathy and cervical spondylotic myelopathy. The second theme is the relationship of motor neuron disease to other conditions, including benign fasciculation (Denny-Brown, Foley syndrome), paraneoplastic syndromes, lymphoproliferative disease, radiation damage, monomelic amyotrophy (Hirayama syndrome), as well as an association with parkinsonism, dementia and multisystem disorders of the central nervous system.

  17. Cigarette smoking and risk of lymphoma in adults: a comprehensive meta-analysis on Hodgkin and non-Hodgkin disease.

    PubMed

    Sergentanis, Theodoros N; Kanavidis, Prodromos; Michelakos, Theodoros; Petridou, Eleni Th

    2013-03-01

    The aim of the present meta-analysis was to examine comprehensively the association between smoking and lymphoma [Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL)] in adults. Eligible studies were identified, and pooled-effect estimates (odds ratios and relative risks) were calculated for ever, current and former smoking, separately by lymphoma subtype and gender. Metaregression analysis with percentage of male patients, mean age, duration (years of smoking), intensity (pack-years and cigarettes per day) and years since quitting was carried out. Out of the 50 eligible articles, 41 used a case-control design (20 143 NHL cases, 4340 HL cases and 61 517 controls), whereas nine used a cohort design (5748 incident NHL cases, 334 HL cases, total cohort size comprising 1 530 833 smokers). Ever smoking was associated with increased risk for NHL [pooled-effect estimate=1.05, 95% confidence interval (CI): 1.00-1.09] mainly because of the association with T-NHL (pooled-effect estimate=1.23, 95% CI: 1.09-1.38). Ever smoking was also associated with increased risk for HL (pooled-effect estimate=1.15, 95% CI: 1.02-1.30); sizeable associations were observed regarding both nodular sclerosis and mixed cellularity subtypes. Although male study arms pointed to predominantly increased risk for HL, metaregression did not confirm the male preponderance. Dose-response patterns were particularly evident for HL. Cigarette smoking seems to be associated with increased lymphoma risk, especially HL and T-NHL. Further well-designed studies seem to be needed so as to investigate the risk thoroughly, especially for T-NHL subentities, and the extent to which confounding may interfere with gender-related disparities.

  18. Light Chain Deposition Disease Diagnosed with Laser Micro-dissection, Liquid Chromatography, and Tandem Mass Spectrometry of Nodular Glomerular Lesions

    PubMed Central

    Kasagi, Tomomichi; Nobata, Hironobu; Suzuki, Keisuke; Miura, Naoto; Banno, Shogo; Takami, Akiyoshi; Yamashita, Taro; Ando, Yukio; Imai, Hirokazu

    2017-01-01

    A 42-year-old man developed nephrotic syndrome and rapidly progressive renal failure. Kidney biopsy demonstrated nodular glomerulosclerosis, negative Congo red staining, and no deposition of light or heavy chains. Laser micro-dissection and liquid chromatography with tandem mass spectrometry of nodular lesions revealed the presence of a kappa chain constant region and kappa III variable region, which signified light chain deposition disease. Dexamethasone and thalidomide were effective in decreasing the serum levels of free kappa light chain from 147.0 to 38.0 mg/L, eliminating proteinuria, and halting the worsening of the kidney dysfunction, with serum creatinine levels stable around 4.0 mg/dL for 3 years. PMID:28050001

  19. The feasibility of low-G grey solidification of nodular iron in the F-104 experimental furnace package

    NASA Technical Reports Server (NTRS)

    Curreri, P. A.; Smith, G. A.; Workman, G.

    1983-01-01

    The rationale for low-g experiments with cast iron and the need for solidification in the grey form during these experiments are reviewed. The factors which determine whether an iron melt will solidify grey or white are discussed. Cooling rate versus microstructure was studied for a nodular iron candidate material for F-104 low-g solidification. The study determined that low-g grey solidification, using the present F-104 furnace system, of the nodular iron composition studied is not feasible. Specimen microstructure strongly suggested that the F-104 furnace's gas cooling system was causing excessive localized chill resulting in the nucleation of the unwanted iron carbide phase. A change is suggested, in the quench system design, that could possibly overcome this problem.

  20. Diffuse nodular lymphoid hyperplasia of the small bowel associated with common variable immunodeficiency and giardiasis: a rare case report.

    PubMed

    Olmez, Sehmus; Aslan, Mehmet; Yavuz, Alpaslan; Bulut, Gulay; Dulger, Ahmet Cumhur

    2014-05-01

    Diffuse nodular lymphoid hyperplasia (DNLH) of the intestine is an extremely rare lymphoproliferative disorder of uncertain etiology. Typically, numerous polypoid nodules composed of hyperplastic benign lymphoid tissue are present in the small and/or large intestinal mucosa. DNLH has been observed in association with common variable immunodeficiency (CVID). A 38-years-old man was admitted to our clinic due to dyspeptic complaints. An upper gastrointestinal system endoscopic examination revealed DNLH in the duodenum. A biopsy specimen showed the presence of nodular lymphoid hyperplasia and a Giardia lamblia infection in the duodenum. CVID was suspected, and the diagnosis was established by demonstrating a significant reduction in the serum gamma-globulin levels. DNLH is a rare benign condition with regards to diagnosis and treatment of unknown etiology. In patients with DNLH, screening for the immune deficiencies is being important in addition to histopathological examinations.

  1. Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.

    PubMed

    Dobyns, W B; Guerrini, R; Czapansky-Beilman, D K; Pierpont, M E; Breningstall, G; Yock, D H; Bonanni, P; Truwit, C L

    1997-10-01

    Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration, and perhaps proliferation, in which nodular masses of gray matter line the walls of the lateral ventricles. Most affected individuals have epilepsy and normal intelligence with no other congenital anomalies. A striking skew of the sex ratio has been observed because 31 of 38 probands have been female, and one gene associated with BPNH was recently mapped to chromosome Xq28. We report three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome that consists of BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. Variable abnormalities included focal or regional cortical dysplasia, cataracts, and hypospadius. We hypothesize that this syndrome involves the same Xq28 locus as isolated BPNH, and we review the expanding number of syndromes associated with BPNH.

  2. [Standartization of MRI studies in multiple sclerosis].

    PubMed

    Bryukhov, V V; Krotenkova, I A; Morozova, S N; Krotenkova, M V

    2016-01-01

    The use of magnetic resonance imaging (MRI) in patients with multiple sclerosis has markedly increased in recent years. The main task of the MRI studies after the diagnosis of multiple sclerosis is to assess the dynamics of MRI for determining disease progression and monitoring the efficacy of therapy. In this regard, it is very important to obtain the most identical baseline and follow-up MRI that is possible when a single standard protocol is used. This article presents the protocol of brain MRI and spinal cord MRI and interpretation of MRI studies in patients with multiple sclerosis.

  3. Clonal immunoglobulin gene rearrangement in nodular lymphoid hyperplasia of the gastrointestinal tract associated with common variable immunodeficiency.

    PubMed

    Laszewski, M J; Kemp, J D; Goeken, J A; Mitros, F A; Platz, C E; Dick, F R

    1990-09-01

    The authors report a case of common variable immunodeficiency associated with nodular lymphoid hyperplasia of the gastrointestinal tract in which a clonal population of lymphoid cells was detected by immunophenotypic and genotypic studies on tissue obtained by colonoscopic biopsy. The patient has been followed up for more than 50 months without clinical, radiographic, or pathologic evidence of lymphoma. The significance of clonal rearrangement in the setting of immunodeficiency and the role of genotypic studies in defining lymphoid malignancy are discussed.

  4. Chiari type 1 malformation and periventricular nodular heterotopia in a 6-year-old boy with congenital hemiplegia: a case report.

    PubMed

    Kaushik, Jaya Shankar; Sharma, Suvasini; Aneja, Satinder; Kumar, Atin

    2014-01-01

    A 6-year-old boy presented with weakness of the right upper and lower limbs, noted since infancy. Magnetic resonance imaging of the brain revealed periventricular nodular heterotopia lining the trigone and occipital horns of bilateral lateral ventricles along with herniation of the cerebellar tonsils below the foramen magnum suggestive of Chiari type 1 malformation. The association of periventricular nodular heterotopia with Chiari type 1 malformation has not been described earlier in children.

  5. Characterization of nodular and thermal defects in hafnia/silica multilayer coatings using optical, photothermal, and atomic force microscopy

    SciTech Connect

    Stolz, C.J.; Yoshiyama, J.M.; Salleo, A.; Wu, Z.L.; Green, J.; Krupka, R.

    1997-12-24

    Multilayer coatings manufactured from metallic hafnium and silica sources by reactive electron beam deposition, are being developed for high fluence optics in a fusion laser with a wavelength of 1053 nm and a 3 ns pulse length. Damage threshold studies have revealed a correlation between laser damage and nodular defects, but interestingly laser damage is also present in nodule-free regions. Photothermal studies of optical coatings reveal the existence of defects with strong optical absorption in nodule-free regions of the coating. A variety of microscopic techniques were employed to characterize the effects for a better understanding of the thermal properties of nodular defects and role of thermal defects in laser damage. Photothermal microscopy, utilizing the surface thermal lensing technique, was used to map the thermal characteristics of 3 mm x 3 mm areas of the coatings. High resolution subaperture scans, with a 1 pm step size and a 3 um pump beam diameter, W= conducted on the defects to characterize their photothermal properties. Optical and atomic force microscopy was used to visually identify defects and characterize their topography. The defects were then irradiated to determine the role of nodular and thermal defects in limiting the damage threshold of the multilayer.

  6. Nodular sclerosing classical Hodgkin lymphoma masquerading as acute suppurative-necrotizing lymphadenitis.

    PubMed

    Florentine, Barbara D; Cohen, Alen N

    2014-03-01

    The diagnosis of nodular sclerosing classical Hodgkin lymphoma (NSCHL) by fine-needle aspiration (FNA) biopsy has historically been a diagnostic challenge due to the usual paucicellularity of the specimen. This case report, and other previously published reports, suggests that there is another facet to the potentially challenging diagnosis of this particular variant of Hodgkin lymphoma (HL): the presence of suppurative-necrotizing changes mimicking an infectious etiology. The patient presented here underwent FNA biopsy of an acutely enlarged supraclavicular lymph node and cytologic smears showed marked acute inflammation in a background of necrosis. A diagnosis of infectious suppurative lymphadenitis was made at that time. After a negative infectious work-up with infectious disease consultation, an excisional biopsy was performed and the patient was definitively diagnosed with NSCHL. The presence of neoplastic Hodgkin and Reed-Sternberg cells in the purulent exudate was minimal and only appropriately identified after retrospective review. This particular subtype of classical HL represents a potential pitfall in FNA biopsy cytology. Consequently, the cytopathologist and surgeon should always consider this entity in the differential diagnosis of a suppurative, lymphadenitis-like aspirate, and pursue repeat FNA or an excisional biopsy if there is any clinical index of suspicion.

  7. PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease

    PubMed Central

    Bram, Zakariae; Louiset, Estelle; Renouf, Sylvie; Duparc, Céline; Boutelet, Isabelle; Rizk-Rabin, Marthe; Libé, Rossella; Young, Jacques; Carson, Dennis; Vantyghem, Marie-Christine; Szarek, Eva; Martinez, Antoine; Stratakis, Constantine A.; Bertherat, Jérôme

    2016-01-01

    Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent hypercortisolism. The disease is primarily caused by germline mutations of the protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene, which induces constitutive activation of PKA in adrenocortical cells. Hypercortisolism is thought to result from PKA hyperactivity, but PPNAD tissues exhibit features of neuroendocrine differentiation, which may lead to stimulation of steroidogenesis by abnormally expressed neurotransmitters. We hypothesized that serotonin (5-HT) may participate in the pathophysiology of PPNAD-associated hypercortisolism. We show that PPNAD tissues overexpress the 5-HT synthesizing enzyme tryptophan hydroxylase type 2 (Tph2) and the serotonin receptors types 4, 6, and 7, leading to formation of an illicit stimulatory serotonergic loop whose pharmacological inhibition in vitro decreases cortisol production. In the human PPNAD cell line CAR47, the PKA inhibitor H-89 decreases 5-HT4 and 5-HT7 receptor expression. Moreover, in the human adrenocortical cell line H295R, inhibition of PRKAR1A expression increases the expression of Tph2 and 5-HT4/6/7 receptors, an effect that is blocked by H-89. These findings show that the serotonergic process observed in PPNAD tissues results from PKA activation by PRKAR1A mutations. They also suggest that Tph inhibitors may represent efficient treatments of hypercortisolism in patients with PPNAD. PMID:27699247

  8. [Primary pigmented nodular adrenocortical disease as cause of Cushing's syndrome associated with Carney complex].

    PubMed

    Dumić, Miroslav; Janjanin, Nevena; Uroić, Anita Spehar; Ille, Jasenka; Skegro, Mate; Kusec, Vesna; Marjanac, Igor; Matić, Toni; Jelasić, Drazen

    2006-01-01

    We report a 11-year-old girl and two 14-year-old boys with Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). In these patients, hypercortisolism is a consequence of autonomous cortisol secretion from adrenal glands and is ACTH-independent. Besides PPNAD, the girl had lentigines, spotty pigmentation on her bucal mucosa and lips and she also had schwannoma. One of the reported boys had prolactinoma. Considering this, those two patients fulfill the criteria for Carney complex which is a type of multiple endocrine neoplasia syndromes inherited in an autosomal dominant trait. The other boy had PPNAD but no other obvious signs of Carney complex were noticed. Family study didn't reveal any clinical or laboratory signs of Carney complex in our patients' first relatives. All of our patients underwent bilateral adrenalectomy (in one of the boys laparoscopic surgery was performed). Glucocorticoid and mineralocorticoid substitution has been started. Adrenal glands were macroscopically normal but pathohistological analysis confirmed the diagnosis of PPNAD.

  9. Multifocal Nodular Fatty Infiltration of the Liver: A Case Report of a Challenging Diagnostic Problem

    PubMed Central

    Tebala, Giovanni Domenico; Jwad, Anees; Khan, Abdul Quyyum; Long, Ervine; Sissons, Guy

    2016-01-01

    Patient: Female, 59 Final Diagnosis: Multifocal nodular fatty infiltration of the liver Symptoms: None Medication: — Clinical Procedure: Laparoscopy Specialty: Surgery Objective: Rare disease Background: Fatty infiltration of the liver usually has a diffuse pattern, but in very rare cases it presents as multiple focal lesions of the liver, mimicking metastases. A correct diagnosis is crucial to address prognosis and eventual treatment. Case Report: We present the case of a completely fit and asymptomatic patient referred for multiple bilateral liver metastases of unknown origin. She had no previous history of malignancy. She was extensively investigated with all locally available methods, including ultrasound scan, computed tomography, magnetic resonance imaging, upper and lower gastrointestinal endoscopy, and diagnostic laparoscopy. Imaging-guided biopsy and laparoscopic biopsy confirmed the diagnosis of multifocal fatty infiltration of the liver. Conclusions: The diagnosis of this condition can be challenging and an accurate initial clinical history must be part of a thorough clinical examination. Multimodal imaging is mandatory, but diagnostic laparoscopy with direct macrobiopsy may be necessary to clear all doubts. PMID:27017525

  10. Subcutaneous Panniculitis-Like T Cell Lymphoma Mimicking Early-Onset Nodular Panniculitis

    PubMed Central

    Shen, Guifen; Dong, Lingli; Zhang, Shengtao

    2016-01-01

    Patient: Male, 24 Final Diagnosis: Subcutaneous panniculitis-like T-cell lymphoma Symptoms: Fever • skin nodules Medication: — Clinical Procedure: Skin biopsy • PET-CT Specialty: Hematology Objective: Rare disease Background: Subcutaneous panniculitis-like T cell lymphoma is a very uncommon subtype of cutaneous T cell lymphoma. The manifestations of this rare disease are atypical at onset, and may mimic some rheumatic or dermatologic diseases, which causes the delay of diagnosis and treatment. Case Report: We report a 24-year-old man suffering from intermittent fever and skin nodules on the left anterior chest wall, who was initially misdiagnosed with nodular panniculitis and finally diagnosed with subcutaneous panniculitis-like T cell lymphoma through repeat examination of biopsy of the skin nodule. Positron emission tomography revealed extracutaneous adipose tissue involvement. Subsequently, hemophagocytic syndrome occurred while under a conventional dose of glucocorticoid, but remission was induced by treatment with cyclosporine A and high doses of dexamethasone. Conclusions: In order to avoid the delay diagnosis and inappropriate treatment of subcutaneous panniculitis-like T cell lymphoma, in addition to a thorough physical examination, PET-CT and disease-specific pathologic, immunophenotypic, and T cell receptor tests of the skin biopsy should be performed. Extracutaneous involvement, especially hemophagocytic syndrome, indicated worse prognosis. Even so, cyclosporine A plus high-dose corticosteroid could be an option of treatment. PMID:27342380

  11. PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease.

    PubMed

    Bram, Zakariae; Louiset, Estelle; Ragazzon, Bruno; Renouf, Sylvie; Wils, Julien; Duparc, Céline; Boutelet, Isabelle; Rizk-Rabin, Marthe; Libé, Rossella; Young, Jacques; Carson, Dennis; Vantyghem, Marie-Christine; Szarek, Eva; Martinez, Antoine; Stratakis, Constantine A; Bertherat, Jérôme; Lefebvre, Hervé

    2016-09-22

    Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent hypercortisolism. The disease is primarily caused by germline mutations of the protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene, which induces constitutive activation of PKA in adrenocortical cells. Hypercortisolism is thought to result from PKA hyperactivity, but PPNAD tissues exhibit features of neuroendocrine differentiation, which may lead to stimulation of steroidogenesis by abnormally expressed neurotransmitters. We hypothesized that serotonin (5-HT) may participate in the pathophysiology of PPNAD-associated hypercortisolism. We show that PPNAD tissues overexpress the 5-HT synthesizing enzyme tryptophan hydroxylase type 2 (Tph2) and the serotonin receptors types 4, 6, and 7, leading to formation of an illicit stimulatory serotonergic loop whose pharmacological inhibition in vitro decreases cortisol production. In the human PPNAD cell line CAR47, the PKA inhibitor H-89 decreases 5-HT4 and 5-HT7 receptor expression. Moreover, in the human adrenocortical cell line H295R, inhibition of PRKAR1A expression increases the expression of Tph2 and 5-HT4/6/7 receptors, an effect that is blocked by H-89. These findings show that the serotonergic process observed in PPNAD tissues results from PKA activation by PRKAR1A mutations. They also suggest that Tph inhibitors may represent efficient treatments of hypercortisolism in patients with PPNAD.

  12. Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.

    PubMed

    Fink, J M; Dobyns, W B; Guerrini, R; Hirsch, B A

    1997-08-01

    Bilateral periventricular nodular heterotopia (BPNH) is a malformation of neuronal migration and is characterized by nodules of heterotopic gray matter lining the lateral ventricles of the brain. The majority of BPNH patients are female and have epilepsy as a sole clinical manifestation of their disease. Familial BPNH has been mapped to Xq28 by linkage analysis. A multiple congenital anomaly-mental retardation syndrome (BPNH/MR) was recently delineated in three unrelated boys with BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. High-resolution chromosome analysis revealed a subtle abnormality of Xq28 in one of the boys with BPNH/MR syndrome. FISH with cosmids and YACs from Xq28 further characterized this abnormality as a 2.25-3.25-Mb inverted duplication. No abnormality of Xq28 was detected by G-banding or FISH in the other two boys. These data support the linkage assignment of BPNH to band Xq28 and narrow the critical region to the distal 2.25-3.25 Mb of Xq28.

  13. Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.

    PubMed

    Kasper, Burkhard S; Kurzbuch, Katrin; Chang, Bernard S; Pauli, Elisabeth; Hamer, Hajo M; Winkler, Jürgen; Hehr, Ute

    2013-06-01

    Periventricular nodular heterotopia (PNH) is a developmental disorder of the central nervous system, characterized by heterotopic nodules of gray matter resulting from disturbed neuronal migration. The most common form of bilateral PNH is X-linked dominant inherited, caused by mutations in the Filamin A gene (FLNA) and associated with a wide variety of other clinical findings including congenital heart disease. The typical patient with FLNA-associated PNH is female and presents with difficult to treat seizures. In contrast, hemizygous FLNA loss of function mutations in males are reported to be perinatally lethal. In X-linked dominant traits like FLNA-associated PNH the causal mutation is commonly inherited from the mother. Here, we present an exceptional family with paternal transmission of classic bilateral FLNA-associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G>A FLNA splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging. Our observations emphasize the importance to consider in genetic counseling and risk assessment the rare genetic constellation of paternal transmission for families with X-linked dominant inherited FLNA-associated PNH.

  14. Papillary carcinoma of thyroid with exuberant nodular fasciitis-like stroma. Report of three cases.

    PubMed

    Chan, J K; Carcangiu, M L; Rosai, J

    1991-03-01

    Three examples of an unusual morphologic variant of papillary thyroid carcinoma (PTC) are reported. The presence of a prominent stromal component resulted in low-power microscopic appearances resembling fibroadenoma, phyllodes tumor, or fibrocystic disease of the breast in two cases. The carcinomatous component grew in the form of anastomosing narrow tubules, clustered glands, solid sheets with or without squamous differentiation, and/or papillae, and exhibited the typical nuclear features of PTC. The abundant stroma had a nodular fasciitis-like quality and was composed of short fascicles of spindle cells separated by varying amounts of mucoid matrix, collagen, and extravasated red blood cells; this was interpreted as an exuberant mesenchymal reaction to the carcinoma. The importance of recognizing this variant of PTC is that, when one encounters a fibroproliferative lesion of the thyroid, a diligent search should be made for papillary carcinoma. This variant also must be distinguished from the vastly more aggressive papillary carcinomas with anaplastic transformation and the so-called carcinosarcomas.

  15. Changes of the blood lymphocyte population following /sup 131/I treatment for nodular goiter

    SciTech Connect

    Blomgren, H.; Petrini, B.; Wasserman, J.; Schnell, P.O.; Lundell, G.

    1987-02-01

    The blood lymphocyte population was examined in 34 patients who were treated with /sup 131/I for toxic or atoxic nodular goiter. The patients received one to three doses of 300-550 MBq of /sup 131/I administered at 1 week intervals. Lymphocyte counts were significantly reduced both 1 and 6 weeks after treatment. This reduction was accompanied by a changed composition of the lymphocyte population. The frequency of lymphocytes expressing membrane receptors for C'3 (EAC-rosette forming) was significantly reduced 1 and 6 weeks after /sup 131/I-administration. At 6 weeks there was a slight but statistically significant increase of the frequency of T-cells as identified by Leu 1 monoclonal antibodies. This was largely caused by an increased proportion of helper/induced T-cells as identified by Leu 3a monoclonals. /sup 131/I-treatment also reduced the capacity of lymphocytes to secrete immunoglobulins (Ig) upon PWM-stimulation. The most pronounced effect was observed for IgM. Secretion of IgG and IgA were less reduced. Mitogenic stimulations of lymphocytes with PHA and ConA were not significantly changed. We conclude that these changes observed, with the exception of mitogen reactivity, are essentially similar to those occurring after external radiation therapy for cancer. We speculate that blood lymphocytes passing through the continuously irradiated gland are damaged mainly by emitted beta-particles.

  16. [The possibility of using music therapy in neurology on the example of multiple sclerosis].

    PubMed

    Boiko, E A; Ivanchuk, E V; Gunchenko, M M; Batysheva, T T

    2016-01-01

    Currently music therapy plays an important role in the drug-free treatment and rehabilitation of children and adults with acute and chronic neurological and somatic diseases including demyelinating diseases. Existing studies show the effectiveness of music therapy in the improvement of social skills, cognitive function and sleep as well as in the reduction in the severity of depression, anxiety and pain in patients with multiple sclerosis.

  17. Association between polyneuritis and multiple sclerosis.

    PubMed Central

    Forrester, C; Lascelles, R G

    1979-01-01

    We report two cases in which multiple sclerosis and inflammatory polyneuritis occurred separately, and suggest that this association supports the idea that the two conditions may have an aetiological link. PMID:228012

  18. Multiple sclerosis: Experimental and clinical aspects

    SciTech Connect

    Scheinberg, L.; Raine, C.S.

    1984-01-01

    This book discusses the experimental and clinical aspects of multiple sclerosis. Specifically discussed are - Association of Epstein Barr Virus with pathology of central nervous system; immunology of viruses; and immunosuppression.

  19. Genetics Home Reference: amyotrophic lateral sclerosis

    MedlinePlus

    ... DW. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron. 2013 Aug 7;79( ... Miller CC, Shaw CE. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type ...

  20. Progressive systemic sclerosis and autoimmune haemolytic anaemia

    PubMed Central

    Sumithran, E.

    1976-01-01

    The development of progressive systemic sclerosis (PSS) in a patient with established autoimmune haemolytic anaemia is described. Points favouring an immunological aetiology for PSS are reviewed and discussed. PMID:1264941

  1. Multiple sclerosis associated with water intoxication.

    PubMed Central

    D'Costa, D. F.; Weston, P.; Millac, P. A.

    1990-01-01

    We present a case of well documented multiple sclerosis which presented with the syndrome of inappropriate antidiuretic hormone secretion, following an exacerbation of the disease. This is a poorly documented association. PMID:2217038

  2. Epidemiology in multiple sclerosis: a pilgrim's progress.

    PubMed

    Kurtzke, John F

    2013-09-01

    There was more neurology taught under Harold G. Wolff at Cornell University Medical College in New York than perhaps anywhere else in the country when I attended from 1948 to 1952. I took my residency at the Veterans Administration Hospital in the Bronx, New York, a teaching hospital of Cornell, with Wolff as my Director of Training. While a resident, we thought we had found a treatment for multiple sclerosis. To test our conclusion, the first Class 1 treatment trial ever conducted for multiple sclerosis was performed. This showed no effect, but the participants began investigating multiple sclerosis among the 16 million persons at prime age for symptom onset who had served in the military in World War II. This led me to study its epidemiology worldwide, beginning with a detailed review of all published population-based estimates of frequency. Among these were nationwide surveys from Sweden, Denmark, Switzerland and later Norway and Finland, which showed in each country a concentration of the significantly high regions into contiguous areas forming a single 'focus' in each land, maximal in Denmark under the age of 15 years. The primary locus of high frequency multiple sclerosis seemed to be in the south-central inland lake region of Sweden, with spread to its contiguous neighbours. These concentrations in time and space indicated that multiple sclerosis was a disease probably acquired in early adolescence. Migration studies supported this: moves from high to low showed retention of birthplace risk only for those aged >15 years, whereas opposite moves indicated susceptibility limited to some 11-45 year olds. Epidemics of multiple sclerosis would suggest the disease is not only acquired but also infectious. If an infectious origin were true, transmission would have to occur before clinical onset, and would have to involve a much greater number of subjects than clinically involved. I believe there have been epidemics in Iceland, Shetland-Orkney and the Faroe Islands

  3. Class II HLA antigens in multiple sclerosis.

    PubMed Central

    Miller, D H; Hornabrook, R W; Dagger, J; Fong, R

    1989-01-01

    HLA typing in Wellington revealed a stronger association of multiple sclerosis with DR2 than with DQw1. The association with DQw1 appeared to be due to linkage disequilibrium of this antigen with DR2. These results, when considered in conjunction with other studies, are most easily explained by the hypothesis that susceptibility to multiple sclerosis is influenced by multiple risk factors, with DR2 being an important risk factor in Caucasoid populations. PMID:2732726

  4. The range of multiple sclerosis associated with neurofibromatosis type 1

    PubMed Central

    Perini, P; Gallo, P

    2001-01-01

    Multiple sclerosis associated with neurofibromatosis type 1 (NF1) is a very rare event. Seven patients with multiple sclerosis and NF1 are described in the literature, and all were reported to have the primary progressive form of multiple sclerosis. Three new patients with NF1 that developed multiple sclerosis are described and it is shown that the range of multiple sclerosis associated with NF1 includes the relapsing forms of the disease. The risk of having both NF1 and multiple sclerosis in north east Italy is higher than would be expected based on the prevalence rates of the two diseases.

 PMID:11606684

  5. Hughes syndrome and multiple sclerosis.

    PubMed

    Uthman, I; Noureldine, M H A; Berjawi, A; Skaf, M; Haydar, A A; Merashli, M; Hughes, G R V

    2015-02-01

    Multiple sclerosis (MS) and antiphospholipid syndrome (APS) share common clinical, laboratory and radiological features. We reviewed all the English papers on MS and APS published in the literature from 1965 to 2014 using PubMed and Google Scholar. We found that APS can mimic antiphospholipid antibodies (aPL)-positive MS in many ways in its clinical presentation. Nevertheless, APS diagnosis, clinical manifestations and management differ from those of MS. aPL were found in MS patients with titers ranging from 2% to 88%. The distribution and volume of lesions on magnetic resonance imaging (MRI) may help to differentiate MS from primary APS. In addition, atypical MS presentation can guide physicians toward an alternative diagnosis, especially when features of thrombosis and/or history of connective tissue disease are present. In that case, an anticoagulation trial could be worthwhile.

  6. Orofacial manifestations of systemic sclerosis.

    PubMed

    Veale, B J; Jablonski, R Y; Frech, T M; Pauling, J D

    2016-09-23

    Systemic sclerosis (SSc) is a multisystem disease of unknown aetiology characterised by microangiopathy, dysregulated immune function and tissue remodelling, which commonly involves the oral cavity. Orofacial manifestations of SSc contribute greatly to overall disease burden and yet are regularly overlooked and under-treated. This may reflect a pre-occupation amongst rheumatology clinicians on potentially life-threatening internal organ involvement, but is also a consequence of insufficient engagement between rheumatologists and dental professionals. A high proportion of SSc patients report difficulty accessing a dentist with knowledge of the disease and there is recognition amongst dentists that this could impact negatively on patient care. This review shall describe the clinical features and burden of orofacial manifestations of SSc and the management of such problems. The case is made for greater collaborative working between rheumatologists and dental professionals with an interest in SSc in both the research and clinical setting.

  7. Autonomic Dysregulation in Multiple Sclerosis

    PubMed Central

    Pintér, Alexandra; Cseh, Domonkos; Sárközi, Adrienn; Illigens, Ben M.; Siepmann, Timo

    2015-01-01

    Multiple sclerosis (MS) is a chronic, progressive central neurological disease characterized by inflammation and demyelination. In patients with MS, dysregulation of the autonomic nervous system may present with various clinical symptoms including sweating abnormalities, urinary dysfunction, orthostatic dysregulation, gastrointestinal symptoms, and sexual dysfunction. These autonomic disturbances reduce the quality of life of affected patients and constitute a clinical challenge to the physician due to variability of clinical presentation and inconsistent data on diagnosis and treatment. Early diagnosis and initiation of individualized interdisciplinary and multimodal strategies is beneficial in the management of autonomic dysfunction in MS. This review summarizes the current literature on the most prevalent aspects of autonomic dysfunction in MS and provides reference to underlying pathophysiological mechanisms as well as means of diagnosis and treatment. PMID:26213927

  8. Multiple sclerosis, a treatable disease.

    PubMed

    Doshi, Anisha; Chataway, Jeremy

    2016-12-01

    This article reviews our current understanding and modern treatment of multiple sclerosis (MS). MS is a disabling condition resulting in devastating social and economic impacts. As MS can affect any part of the central nervous system, the presentation is often diverse; however, there are key features that can be useful in the clinic. We comment on the diagnostic criteria and review the main subtypes of MS, including clinically isolated syndrome, relapsing remitting MS, secondary progressive MS and primary progressive MS. Although the underlying aetiology of MS is still not known, we summarise those with most evidence of association. Finally, we aim to present treatment strategies for managing the acute relapse, disease-modifying therapies and MS symptoms. This review highlights that progressive MS is an area where there is currently a paucity of available disease-modifying treatments and this will be a major focus for future development.

  9. Intensive immunosuppression in multiple sclerosis.

    PubMed

    Zaffaroni, M; Ghezzi, A; Comi, G

    2006-03-01

    Immunosuppressive drugs have been used out of label in multiple sclerosis (MS) for over 30 years and around 10% of patients are actually under immunosuppressive treatment. The rationale for immunosuppression in MS lies in the hypothesis that MS is an inflammatory immune-mediated disease that can take advantage of strong anti-inflammatory activity. Azathioprine, methotrexate, cyclophosphamide and mitoxantrone are the most utilised agents, but only the latter has been approved for clinically active MS. Many of them are safe in combination with interferon-beta and are under investigation in controlled trials. Plasma exchange is limited to catastrophic attacks in refractory MS whilst bone marrow transplantation is considered in patients with an extremely severe, active disease as the final option in escalation therapy. Although immunosuppressants are best effective in induction therapy, their use is limited by toxicity and potential long-term risk.

  10. Painful and involuntary Multiple Sclerosis

    PubMed Central

    Bagnato, Francesca; Centonze, Diego; Galgani, Simonetta; Grasso, Maria Grazia; Haggiag, Shalom; Strano, Stefano

    2010-01-01

    Importance of the field Pain, dysphagia, respiratory problems, sexual and cardiovascular dysfunctions may occur in patients with multiple sclerosis (MS). Areas covered in the field In the present review we attempt to summarize the current knowledge on the impact that pain, dysphagia, respiratory problems, sexual and cardiovascular dysfunctions have in patients with MS. What the reader will gain The current understanding on pain, dysphagia, respiratory problems, sexual and cardiovascular dysfunctions and future research perspectives to expand the knowledge of this field. Take home message To effectively manage MS it is essential that these symptoms are recognised as early as possible and treated by a rehabilitative multidisciplinary approach, based on proven scientific evidence. PMID:21323633

  11. Epigenetic Drugs for Multiple Sclerosis.

    PubMed

    Peedicayil, Jacob

    2016-01-01

    There is increasing evidence that abnormalities in epigenetic mechanisms of gene expression contribute to the development of multiple sclerosis (MS). Advances in epigenetics have given rise to a new class of drugs, epigenetic drugs. Although many classes of epigenetic drugs are being investigated, at present most attention is being paid to two classes of epigenetic drugs: drugs that inhibit DNA methyltransferase (DNMTi) and drugs that inhibit histone deacetylase (HDACi). This paper discusses the potential use of epigenetic drugs in the treatment of MS, focusing on DNMTi and HDACi. Preclinical drug trials of DNMTi and HDACi for the treatment of MS are showing promising results. Epigenetic drugs could improve the clinical management of patients with MS.

  12. [Pathogenic mechanisms of neuronal damage in multiple sclerosis].

    PubMed

    Flores-Alvarado, Luis Javier; Gabriel-Ortiz, Genaro; Pacheco-Mois, Fermín P; Bitzer-Quintero, K

    2015-06-01

    Multiple sclerosis is the most common cause of progressive neurological disability in young adults. This disease involves damage to the myelin sheath that normally insulates the electrical activity of nerve fibers. This leads to a wide range of symptoms as specific nerves become injured and lose their function. Epidemiological and experimental studies show that genetic alterations, antioxidant enzyme abnormalities and autoimmunity are risk factors for developing the disease. Recent evidence suggests that inflammation and oxidative stress within the central nervous system are major causes of ongoing tissue damage. Resident central nervous system cells and invading inflammatory cells release several reactive oxygen and nitrogen species which cause the histopathological features of multiple sclerosis: demyelization and axonal damage. The interplay between inflammatory and neurodegenerative processes results in an intermittent neurological disturbance followed by progressive accumulation of disability. Reductions in inflammation and oxidative stress status are important therapeutic strategies to slow or halt the disease processes. Therefore, several drugs are currently in trial in clinical practice to target this mechanism; particularly the use of supplements such as antioxidants and omega-3 polyunsaturated fatty acids, in order to improve the survival and quality of patients' lives.

  13. Biomarkers in multiple sclerosis: an update for 2014.

    PubMed

    Fernandez, Oscar; Martin, Roland; Rovira, Alex; Llufriu, Sara; Vidal-Jordana, Angela; Fernandez-Sanchez, Victoria E; Alvarez-Cermeno, José C; Izquierdo, Guillermo; Arroyo-Gonzalez, Rafael; Rodriguez-Antiguedad, Alfredo; Casanova-Estruch, Bonaventura; Montalban, Xavier

    2014-06-16

    Multiple sclerosis is a chronic, demyelinating and inflammatory disease of the central nervous system that mainly affects young adults. It is characterised by processes involving inflammation, demyelination and axonal destruction, and as a result the pathogenic aspects and response to treatment of the disease vary widely. It is therefore difficult to establish a prognosis for these patients or to determine the effectiveness of the different drugs that are employed. Current clinical research into the development of new biomarkers has advanced a great deal in recent years, especially in the early stages of the disease. Yet, it is essential to further our knowledge about novel markers of the disease, and not only in the more advanced stages, so as to be able to stop disability from progressing and to establish new therapy regimens in these patients. This review presents an update on the information available about the biomarkers that are currently validated and used in multiple sclerosis, together with the possible candidates for utilisation in routine clinical practice.

  14. Multiple sclerosis: basic knowledge and new insights in perioperative management.

    PubMed

    Makris, Alexandros; Piperopoulos, Alexandros; Karmaniolou, Iosifina

    2014-04-01

    Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system affecting young adults that may lead to significant disability. The clinical course varies among the types of the disease as well as among individuals. Herein we provide a brief review of the recent data concerning the clinical presentation, diagnosis, causes, and pathogenesis of MS as well as medication used, followed by the anesthetic considerations of patients diagnosed with the disease. To accomplish this, we conducted a systematic PubMed literature search for articles, using the terms multiple sclerosis, anesthesia, general, regional, perioperative, and preoperative, and we then manually reviewed the references from each pertinent article. Because randomized controlled trials on the field are rare, most information is derived by case reports and case series. We concluded that the disease itself as well as the treatment modalities may have several implications in the conduct of anesthesia and perioperative management of MS patients. General and regional anesthetic techniques have been successfully used. With thorough preoperative evaluation and in depth knowledge of the disease and its complications, the MS patients can be managed safely.

  15. Extended-release dalfampridine in the management of multiple-sclerosis-related walking impairment.

    PubMed

    Hersh, Carrie; Rae-Grant, Alex

    2012-07-01

    Multiple sclerosis is an inflammatory demyelinating disease of the central nervous system that causes neurological impairment in young adults. As part of the disease, ambulation remains one of the most disabling features of multiple sclerosis. Extended-release dalfampridine is a long-acting form of 4-aminopyridine that has been shown in two phase III trials to increase ambulation speed in a subset of patients with multiple sclerosis (timed walk responders). The primary endpoint of these studies was 'responder status', analyzing difference in the proportion of timed walk responders between extended-release dalfampridine and placebo groups. Extended-release dalfampridine exerts its effects by inhibiting voltage-activated K(+) channels and has been previously demonstrated to improve action potential propagation in demyelinated nerve fibers in vitro. Side effects of extended-release dalfampridine include increased urinary tract infections, insomnia, headache, asthenia, dizziness, back pain, and paresthesias. Rare seizure events are also reported on the approved dose of 10 mg every 12 h. In this review we will summarize the results of key phase II and phase III trials of extended-release dalfampridine, its safety, and potential use in patients with multiple sclerosis.

  16. Early hepatocellular carcinoma with high-grade atypia in small vaguely nodular lesions.

    PubMed

    Ojima, Hidenori; Masugi, Yohei; Tsujikawa, Hanako; Emoto, Katsura; Fujii-Nishimura, Yoko; Hatano, Mami; Kawaida, Miho; Itano, Osamu; Kitagawa, Yuko; Sakamoto, Michiie

    2016-04-01

    Multistep hepatocarcinogenesis progresses from dysplastic nodules to early hepatocellular carcinoma (eHCC) and to advanced HCC. The aim of the present study was to investigate the detailed histopathological features of eHCC. We investigated 66 small vaguely nodular lesions resected from 40 patients. The degree of cellular and structural atypia and stromal invasion were assessed. The immunohistochemical expression of HCC-related markers adenylate cyclase-associated protein 2 (CAP2), heat shock protein 70 (HSP70), Bmi-1, CD34 and h-caldesmon were evaluated. Of the 66 nodules, 10 were diagnosed as low-grade dysplastic nodules (LGDN), 10 as high-grade dysplastic nodules (HGDN) and 46 as eHCC. Among the 46 eHCC, 18 nodules (39.1%) showed marked stromal invasion and/or the presence of the scirrhous component and were subclassified as high-grade eHCC (HGeHCC). The remaining 28 eHCC, which lacked these features, were subclassified as low-grade eHCC (LGeHCC) and were examined further. HGeHCC showed high levels of cellular and structural atypia and large tumor size. The immunohistochemical expression of CAP2 and the area of sinusoidal vascularization showed increases from LGDN to HGeHCC. The density of arterial tumor vessels was high in HGeHCC compared with other nodule types. Cluster analysis of these parameters subclassified 65 nodules into HGeHCC-dominant, LGeHCC and HGDN-dominant, and LGDN-dominant groups. These results indicate the increased malignant potential of HGeHCC and suggest that it is already a transitional stage to advanced HCC. We consider that our grading classification system may be valuable for considering treatment strategies for eHCC around 2 cm in diameter.

  17. Current and emerging therapies in multiple sclerosis: a systematic review

    PubMed Central

    Graves, Donna; Frohman, Teresa C.; Flores, Angela Bates; Hardeman, Paula; Logan, Diana; Orchard, Megan; Greenberg, Benjamin; Frohman, Elliot M.

    2012-01-01

    Multiple sclerosis (MS) is a potentially disabling chronic autoimmune neurological disease that mainly affects young adults. Our understanding of the pathophysiology of MS has significantly advanced in the past quarter of a century. This has led to the development of many disease-modifying therapies (DMTs) that prevent exacerbations and new lesions in patients with relapsing remitting MS (RRMS). So far there is no drug available that can completely halt the neurodegenerative changes associated with the disease. It is the purpose of this review to provide concise information regarding mechanism of action, indications, side effects and safety of Food and Drug Administration and European Medicines Agency approved agents for MS, emerging therapies, and drugs that can be considered for off-label use in MS. PMID:22783370

  18. Rapamycin for treating Tuberous Sclerosis and Autism Spectrum Disorders

    PubMed Central

    Ehninger, Dan; Silva, Alcino J.

    2010-01-01

    Tuberous sclerosis (TSC) is a genetic disorder caused by heterozygous mutations in the TSC1 or TSC2 genes and is associated with autism spectrum disorders (ASD) in 20–60% of cases. In addition, altered TSC/mTOR signaling is emerging as a feature common to a subset of ASD. Recent findings, in animal models, show that restoration of the underlying molecular defect can improve neurological dysfunction in several of these models, even if treatment is initiated in adult animals, suggesting that pathophysiological processes in the mature brain contribute significantly to the overall neurological phenotype in these models. These findings suggest that windows for therapeutic intervention in ASD may be wider than thought previously. PMID:21115397

  19. Age, gender, kinship and caregiver burden in amyotrophic lateral sclerosis.

    PubMed

    Tramonti, Francesco; Bongioanni, Paolo; Leotta, Rebecca; Puppi, Irene; Rossi, Bruno

    2015-01-01

    Amyotrophic lateral sclerosis is a neurodegenerative disease that affects the motor neurons and causes progressive physical impairment. Also, other functions, such as breathing, swallowing and speech are compromised, and the loss of independence makes caregiver burden extremely high. The present study aimed at evaluating the differences in the caregiver burden due to age, gender and kinship. Women reported a higher physical and social burden than men, and partners scored higher in several dimensions of the caregiver burden when compared to sons and daughters. With respect to adult child caregivers, daughters reported higher levels of developmental burden than sons. Age has a significant impact on the caregiver burden, especially for the time dedicated to assistance and physical burden; disease severity is significantly related to the physical burden as well, and also with the developmental burden.

  20. Yoga as a method of symptom management in multiple sclerosis.

    PubMed

    Frank, Rachael; Larimore, Jennifer

    2015-01-01

    Multiple Sclerosis (MS) is an immune-mediated process in which the body's immune system damages myelin in the central nervous system (CNS). The onset of this disorder typically occurs in young adults, and it is more common among women. Currently, there is no cure and the long-term disease progression makes symptomatic management critical for maintaining quality of life. Several pharmacotherapeutic agents are approved for treatment, but many patients seek complementary and alternative interventions. Reviews have been conducted regarding broad topics such as mindfulness-based interventions for people diagnosed with MS and the impact of yoga on a range of neurological disorders. The objective of the present review is to examine the potential benefits of yoga for individuals with MS and address its use in managing symptoms including pain, mental health, fatigue, spasticity, balance, bladder control, and sexual function.

  1. An update on immunopathogenesis, diagnosis, and treatment of multiple sclerosis

    PubMed Central

    Garg, Neeta; Smith, Thomas W

    2015-01-01

    Background Multiple sclerosis is an acquired demyelinating disease of the central nervous system. It is the second most common cause of disability in adults in United States after head trauma. Discussion The etiology of MS is probably multifactorial, related to genetic, environmental, and several other factors. The pathogenesis is not fully understood but is believed to involve T-cell-mediated inflammation directed against myelin and other related proteins with a possible role for B cells. The McDonald criteria have been proposed and revised over the years to guide the diagnosis of MS and are based on clinical presentation and magnetic resonance imaging (MRI) of the brain and spinal cord to establish dissemination in time and space. The treatment of MS includes disease modification with immunomodulator drugs and symptom management to address the specific symptoms such as fatigue, spasticity, and pain. Conclusion An update on etiology, pathogenesis, diagnosis, and immunomodulatory treatment of MS is presented. PMID:26445701

  2. [Clinical features of pediatric multiple sclerosis: epidemiology and treatment].

    PubMed

    Torisu, Hiroyuki; Hara, Toshiro

    2014-11-01

    Multiple sclerosis (MS) in children is essentially not different from MS in adults; however, in children, it is sometimes difficult to distinguish MS from other demyelinating diseases. The main reason for this is that acute encephalitis/encephalopathy associated with infectious diseases, especially acute disseminated encephalomyelitis (ADEM), often causes demyelinating events in the central nervous system in childhood, and that the demyelinating episodes of MS in younger children clinically resemble ADEM events. Therefore, a number of studies on pediatric demyelinating diseases have been conducted to elucidate the clinical features of pediatric MS. In this article, the clinical features of pediatric MS in Japan were reviewed on the basis of the results of a nationwide survey as well as those in other countries.

  3. Monitoring technology for wheelchair users with advanced multiple sclerosis.

    PubMed

    Pino, Esteban J; Arias, Diego E; Aqueveque, Pablo; Vilugrón, Luis; Hermosilla, Daniela; Curtis, Dorothy W

    2013-01-01

    This paper presents a non-invasive assistive device for people with advanced Multiple Sclerosis (MS) who use electric power wheelchairs (EPW). The proposed system can acquire respiration and heart activity from ballistocardiogram (BCG), seat and back pressure distribution, wheelchair tilt angle and ambient temperature and relative humidity. The sensors collect information related to the main issues of MS patients: fatigue, heat sensitivity and low mobility. Preliminary results show the signals as the wheelchair is moving, stopped and tilting. The system is able to capture sufficient relevant information to provide suggestions and alarms in a future stage. The system will be tested at The Boston Home, a specialized residence for adults with advanced MS.

  4. Exercise in multiple sclerosis -- an integral component of disease management

    PubMed Central

    2012-01-01

    Multiple sclerosis (MS) is the most common chronic inflammatory disorder of the central nervous system (CNS) in young adults. The disease causes a wide range of symptoms depending on the localization and characteristics of the CNS pathology. In addition to drug-based immunomodulatory treatment, both drug-based and non-drug approaches are established as complementary strategies to alleviate existing symptoms and to prevent secondary diseases. In particular, physical therapy like exercise and physiotherapy can be customized to the individual patient's needs and has the potential to improve the individual outcome. However, high quality systematic data on physical therapy in MS are rare. This article summarizes the current knowledge on the influence of physical activity and exercise on disease-related symptoms and physical restrictions in MS patients. Other treatment strategies such as drug treatments or cognitive training were deliberately excluded for the purposes of this article. PMID:22738091

  5. Multiple sclerosis: overview of disease-modifying agents.

    PubMed

    Finkelsztejn, Alessandro

    2014-01-01

    Multiple sclerosis (MS) is a chronic autoimmune disease that usually affects young adults, causing progressive physical and cognitive disability. Since the 1990s, its treatment has been based on parenteral medications known collectively as immunomodulators. This drug class is considered safe and usually prevents 30% of MS relapses. Drugs in this class exert almost the same efficacy and require an inconvenient administration route. New medications have recently been launched worldwide. Thus, new oral drugs are increasingly being administered to MS patients and contributing to a better quality of life, since these have better efficacy than the old immunomodulators. Today, 10 different drugs for MS are marketed worldwide, which requires deep knowledge among neurologists and other healthcare professionals. This paper summarizes all the drugs approved for MS in the US and Europe, emphasizing their mechanism of action, the results from phase II and III studies, and the product safety.

  6. Yoga as a method of symptom management in multiple sclerosis

    PubMed Central

    Frank, Rachael; Larimore, Jennifer

    2015-01-01

    Multiple Sclerosis (MS) is an immune-mediated process in which the body's immune system damages myelin in the central nervous system (CNS). The onset of this disorder typically occurs in young adults, and it is more common among women. Currently, there is no cure and the long-term disease progression makes symptomatic management critical for maintaining quality of life. Several pharmacotherapeutic agents are approved for treatment, but many patients seek complementary and alternative interventions. Reviews have been conducted regarding broad topics such as mindfulness-based interventions for people diagnosed with MS and the impact of yoga on a range of neurological disorders. The objective of the present review is to examine the potential benefits of yoga for individuals with MS and address its use in managing symptoms including pain, mental health, fatigue, spasticity, balance, bladder control, and sexual function. PMID:25983675

  7. Multiple Sclerosis, Personal Stories | NIH MedlinePlus the Magazine

    MedlinePlus

    ... of this page please turn Javascript on. Feature: Multiple Sclerosis Personal Stories: Nicole Lemelle, Iris Young, Michael Anthony, ... something quite different for a person living with multiple sclerosis, such as his girlfriend's brother, Chuy. The more ...

  8. A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.

    PubMed

    Cozen, Wendy; Li, Dalin; Best, Timothy; Van Den Berg, David J; Gourraud, Pierre-Antoine; Cortessis, Victoria K; Skol, Andrew D; Mack, Thomas M; Glaser, Sally L; Weiss, Lawrence M; Nathwani, Bharat N; Bhatia, Smita; Schumacher, Fredrick R; Edlund, Christopher K; Hwang, Amie E; Slager, Susan L; Fredericksen, Zachary S; Strong, Louise C; Habermann, Thomas M; Link, Brian K; Cerhan, James R; Robison, Leslie L; Conti, David V; Onel, Kenan

    2012-01-12

    Nodular sclerosing Hodgkin lymphoma (NSHL) is a distinct, highly heritable Hodgkin lymphoma subtype. We undertook a genome-wide meta-analysis of 393 European-origin adolescent/young adult NSHL patients and 3315 controls using the Illumina Human610-Quad Beadchip and Affymetrix Genome-Wide Human SNP Array 6.0. We identified 3 single nucleotide polymorphisms (SNPs) on chromosome 6p21.32 that were significantly associated with NSHL risk: rs9268542 (P = 5.35 × 10(-10)), rs204999 (P = 1.44 × 10(-9)), and rs2858870 (P = 1.69 × 10(-8)). We also confirmed a previously reported association in the same region, rs6903608 (P = 3.52 × 10(-10)). rs204999 and rs2858870 were weakly correlated (r(2) = 0.257), and the remaining pairs of SNPs were not correlated (r(2) < 0.1). In an independent set of 113 NSHL cases and 214 controls, 2 SNPs were significantly associated with NSHL and a third showed a comparable odds ratio (OR). These SNPs are found on 2 haplotypes associated with NSHL risk (rs204999-rs9268528-rs9268542-rs6903608-rs2858870; AGGCT, OR = 1.7, P = 1.71 × 10(-6); GAATC, OR = 0.4, P = 1.16 × 10(-4)). All individuals with the GAATC haplotype also carried the HLA class II DRB1*0701 allele. In a separate analysis, the DRB1*0701 allele was associated with a decreased risk of NSHL (OR = 0.5, 95% confidence interval = 0.4, 0.7). These data support the importance of the HLA class II region in NSHL etiology.

  9. Neurofibromatosis type 1 and pregnancy: The transformation of a nodular to cystic neurofibroma in the cervical region

    PubMed Central

    Ramos-Zúñiga, Rodrigo; Saldaña-Koppel, Daniel Alexander

    2015-01-01

    Background: The peripheral hallmarks of neurofibromatosis type 1 (NF1) are Café au lait and solid nodular neurofibromas. The morphological behavior of these lesions could be susceptible to modification during pregnancy. The present case report describes a case of cystic transformation of a nodular neurofibroma, with progressive growth and mass effect in the anterior cervical region, which was surgically resolved without any complications. Case Description: A 33-year-old female patient with a known personal history of NF1, with annual control of the peripheral neurofibromas and cerebral and spinal magnetic resonance imaging follow-ups. Under genetic counseling, she decides to get pregnant following all the medical advises. Once the pregnancy is confirmed, she starts to notice the growth of one of them adjacent to the left cervical region. Such neurofibroma presented with the progressive gradual increase and in the last month, she presented dysphagia, dysphonia, and postural pain localized by the mass effect. Once the pregnancy concluded, the microsurgical approach was scheduled for resection of the lesion, where a cystic mass was found within the walls of the neurofibroma. The resection was uneventful. Conclusion: The transformation of a nodular to cystic neurofibroma during pregnancy is a very rare presentation, which may exacerbate the clinical symptomatology depending on the topography of the lesion due to the mass effect it may create. This condition may alert to the recommendations and vigilance in patients with NF1, who are pregnant or are planning on a future pregnancy. The neurosurgical resolution in this region is safe and beneficial. PMID:26605110

  10. Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann-Pick disease: an atypical hemangioma enhancement pattern.

    PubMed

    Benedetti, E; Proietti, A; Miccoli, P; Basolo, F; Ciancia, E; Erba, P A; Galimberti, S; Orsitto, E; Petrini, M

    2009-09-01

    Sommario INTRODUZIONE: La malattia di Niemann-Pick (NPD) tipo A e B è una patologia da accumulo di lipidi. Il tipo A è un disordine fatale dell'infanzia. Il tipo B è una forma non-neuronopatica ossevata sia nei bambini che negli adulti con possibile riscontro di epatomegalia e/o splenomegalia (nodulare) durante un esame ecografico. Il tipo C dipende da un difetto nel trasporto del colesterolo. METODI: Una donna di 21 anni si è presentata al Pronto Soccorso con febbre, faringodinia e dolore al quadrante addominale superiore sinistro. Gli esami ematochimici hanno evidenziato anemia, piastrinopenia, aumento delle AST, ALT, GGT, FA, LDH trigliceridi, colesterolo totale, e ridotto HDL. La PCR per CMV ed EBV era negativa. La radiografia del torace era negativa. L'ecografia transaddominale ha rilevato splenomegalia (>22 cm long axis) con una lesione ipoecogena irregolare subcapsulare al polo superiore compatibile con infarto splenico e la presenza di multiple lesioni nodulari iperecogene con diametro da 1 cm fino a 5. RISULTATI: È stata quindi eseguita una ecografia con mezzo di contrasto con SonoVue (Bracco) che ha confermato la presenza di un infarto splenico. Le lesioni nodulari mostravano un enhancement in fase arteriosa con wash out in fase parenchimatosa tardiva. La F-FDG-PET ha mostrato un uptake nodulare splenico. Nel sospetto di un processo linfoproliferativo è stata eseguita una splenectomia. La diagnosi è stata di NPD tipo B con infarto splenico e le lesioni nodulari sono risulate essere emangiomi. DISCUSSIONE: Concludendo, la CEUS ha confermato la diagnosi e l'estenzione dell'infarto splenico, ma l'enhancement nodulare atipico supportato dalle immagini F-FDG-PET è stato fuorviante, suggerendo l'ipotesi di lesioni linfomatose.

  11. Development of a Novel Microfluidic Platform for Multiple Sclerosis Study

    DTIC Science & Technology

    2012-08-01

    Platform for Multiple Sclerosis Study PRINCIPAL INVESTIGATOR: In Hong Yang CONTRACTING ORGANIZATION: Johns Hopkins University...COVERED 15 Jul 2011 - 14 Jul 2012 4. TITLE AND SUBTITLE Development of a Novel Microfluidic Platform for Multiple Sclerosis Study 5a. CONTRACT NUMBER...NSC in the pathology and therapy of neurodegenerative disorders including multiple sclerosis (MS) [1-2]. Evidence suggests that NSC proliferation

  12. Impaired neurosteroid synthesis in multiple sclerosis.

    PubMed

    Noorbakhsh, Farshid; Ellestad, Kristofor K; Maingat, Ferdinand; Warren, Kenneth G; Han, May H; Steinman, Lawrence; Baker, Glen B; Power, Christopher

    2011-09-01

    High-throughput technologies have led to advances in the recognition of disease pathways and their underlying mechanisms. To investigate the impact of micro-RNAs on the disease process in multiple sclerosis, a prototypic inflammatory neurological disorder, we examined cerebral white matter from patients with or without the disease by micro-RNA profiling, together with confirmatory reverse transcription-polymerase chain reaction analysis, immunoblotting and gas chromatography-mass spectrometry. These observations were verified using the in vivo multiple sclerosis model, experimental autoimmune encephalomyelitis. Brains of patients with or without multiple sclerosis demonstrated differential expression of multiple micro-RNAs, but expression of three neurosteroid synthesis enzyme-specific micro-RNAs (miR-338, miR-155 and miR-491) showed a bias towards induction in patients with multiple sclerosis (P < 0.05). Analysis of the neurosteroidogenic pathways targeted by micro-RNAs revealed suppression of enzyme transcript and protein levels in the white matter of patients with multiple sclerosis (P < 0.05). This was confirmed by firefly/Renilla luciferase micro-RNA target knockdown experiments (P < 0.05) and detection of specific micro-RNAs by in situ hybridization in the brains of patients with or without multiple sclerosis. Levels of important neurosteroids, including allopregnanolone, were suppressed in the white matter of patients with multiple sclerosis (P < 0.05). Induction of the murine micro-RNAs, miR-338 and miR-155, accompanied by diminished expression of neurosteroidogenic enzymes and allopregnanolone, was also observed in the brains of mice with experimental autoimmune encephalomyelitis (P < 0.05). Allopregnanolone treatment of the experimental autoimmune encephalomyelitis mouse model limited the associated neuropathology, including neuroinflammation, myelin and axonal injury and reduced neurobehavioral deficits (P < 0.05). These multi-platform studies point to

  13. Ultrastructural Characterization of Hyperactive Endothelial Cells, Pericytes and Fibroblasts in Hypertrophic and Nodular Port Wine Stain Lesions.

    PubMed

    Gao, L; Yin, R; Wang, H; Guo, W; Song, W; Nelson, J S; Tan, W; Wang, G

    2017-02-09

    Port wine stain (PWS) is a congenital vascular malformation of human skin involving the superficial vascular plexus,(1-4) but the molecular pathogenesis of these lesions remains incompletely understood.(5-8) We herein performed a transmission electron microscopy (TEM) study to determine the main pathological characteristics and ultrastructure of various cell types, including endothelial cells (ECs), pericytes, fibroblasts and keratinocytes, in hypertrophic and nodular PWS. The study was approved by the Investigational Review Board at the Xijing Hospital, Xi'an, China. This article is protected by copyright. All rights reserved.

  14. Periventricular nodular heterotopia, frontonasal encephalocele, corpus callosal dysgenesis and arachnoid cyst: A constellation of abnormalities in a child with epilepsy.

    PubMed

    Krishnan, Prasad; Chattopadhyay, Arijit; Saha, Manash

    2014-01-01

    A 7-year-old male child presented with poorly controlled generalized tonic-clonic seizures. On examination, he was mentally retarded, deaf and had a swelling at the root on the nose. Computed tomography scan done previously revealed a left temporal arachnoid cyst (AC) due to which he was referred for surgery. However, magnetic resonance imaging revealed a constellation of abnormalities - all of which could be responsible for his seizures. The combination of periventricular nodular heterotopias with encepaholcele is rarely described in the literature, and more infrequently so its combination with AC and callosal dysgenesis - the Chudley-Mccullough syndrome. We describe the case and review relevant literature on this subject.

  15. Compositions of sedimentary strata, nodular features and veins at the base of Mount Sharp, Gale crater, Mars: an APXS perspective

    NASA Astrophysics Data System (ADS)

    Thompson, L. M.; Gellert, R.; Spray, J. G.; Berger, J. A.; Boyd, N.; Campbell, J. L.; de Souza, E.; Pavri, B.; Perrett, G. M.; VanBommel, S.; Yen, A. S.

    2015-10-01

    Since the MSL Curiosity rover arrived at the lower most slopes of Mount Sharp, the APXS instrument has encountered four distinct bedrock compositions, two of which have not previously been encountered on the mission, indicating different source regions and/or post -depositional alteration/diagenetic histories. Raised, resistant nodular features are interpreted as diagenetic and exhibit elevated,and positively correlated Mg, S and Ni. Late vein networks and associated resistant fins reveal a complex texture and chemistry, recording multiple fluid flow events.

  16. Activation status of human microglia is dependent on lesion formation stage and remyelination in multiple sclerosis.

    PubMed

    Peferoen, Laura A N; Vogel, Daphne Y S; Ummenthum, Kimberley; Breur, Marjolein; Heijnen, Priscilla D A M; Gerritsen, Wouter H; Peferoen-Baert, Regina M B; van der Valk, Paul; Dijkstra, Christine D; Amor, Sandra

    2015-01-01

    Similar to macrophages, microglia adopt diverse activation states and contribute to repair and tissue damage in multiple sclerosis. Using reverse transcription-quantitative polymerase chain reaction and immunohistochemistry, we show that in vitro M1-polarized (proinflammatory) human adult microglia express the distinctive markers CD74, CD40, CD86, and CCR7, whereas M2 (anti-inflammatory) microglia express mannose receptor and the anti-inflammatory cytokine CCL22. The expression of these markers was assessed in clusters of activated microglia in normal-appearing white matter (preactive lesions) and areas of remyelination, representing reparative multiple sclerosis lesions. We show that activated microglia in preactive and remyelinating lesions express CD74, CD40, CD86, and the M2 markers CCL22 and CD209, but not mannose receptor. To examine whether this intermediate microglia profile is static or dynamic and thus susceptible to changes in the microenvironment, we polarized microglia into M1 or M2 phenotype in vitro and then subsequently treated them with the opposing polarization regimen. These studies revealed that expression of CD40, CXCL10, and mannose receptor is dynamic and that microglia, like macrophages, can switch between M1 and M2 phenotypic profiles. Taken together, our data define the differential activation states of microglia during lesion development in multiple sclerosis-affected CNS tissues and underscore the plasticity of human adult microglia in vitro.

  17. [Control of epilepsy in adult patients with tuberous sclerosis].

    PubMed

    Gallardo-Tur, Alejandro; García-Martín, Guillermina; Chamorro-Muñoz, María Isabel; Romero-Godoy, Jorge; Romero-Acebal, Manuel

    2013-06-01

    Introduccion. La esclerosis tuberosa es una enfermedad genetica cuyas manifestaciones principales son la formacion de tumores neuroectodermicos, que asocia epilepsia secundaria muy frecuentemente. Objetivo. Describir el perfil epileptico, el control, la frecuencia de crisis y la efectividad del tratamiento en pacientes adultos con esclerosis tuberosa. Pacientes y metodos. Estudio descriptivo en el que se han incluido pacientes adultos (mayores de 14 anos) con diagnostico confirmado de esclerosis tuberosa. Se ha analizado la frecuencia y tipos de crisis. Se ha realizado un estudio y contabilizacion de los diferentes farmacos antiepilepticos en cada paciente, la frecuencia de uso de cada principio activo y un estudio comparativo entre control de crisis y tipo de terapia. Resultados. De 19 adultos estudiados, tuvieron crisis epilepticas 16 (84%). Presentaron control de crisis completo, crisis esporadicas y crisis frecuentes el 44%, 25% y 31%, respectivamente. Hubo frecuencia de crisis focales, generalizadas y ambas en el 38%, 6% y 25%, respectivamente. Estaban en tratamiento con farmacos antiepilepticos en monoterapia, biterapia y triterapia el 38%, 44% y 19%, respectivamente. El mas consumido globalmente fue el levetiracetam, seguido de la carbamacepina y el acido valproico. En monoterapia, el mas frecuente fue la carbamacepina, con mayor proporcion de control completo. Conclusiones. La epilepsia en la esclerosis tuberosa es relativamente benigna, y se consigue un aceptable control en la mayoria de casos con un numero de antiepilepticos acorde con lo aconsejado en las guias de tratamiento. Se observa estabilidad de lesiones, y no hay malignizacion en nuestra serie. El bajo numero de la muestra limita el estudio, pero se observan proporciones similares de efectividad del tratamiento respecto a otra serie publicada.

  18. Management of Nodular Lymphocyte Predominant Hodgkin Lymphoma in the Modern Era

    SciTech Connect

    King, Martin T.; Donaldson, Sarah S.; Link, Michael P.; Natkunam, Yasodha; Advani, Ranjana H.; Hoppe, Richard T.

    2015-05-01

    Purpose: To analyze treatment outcomes for nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) at a single institution. Patients and Methods: Patients with newly diagnosed NLPHL between 1996 and 2013 were reviewed retrospectively. Patients treated before 1996 were excluded because the majority received extended field radiation therapy (RT) alone. Results: Fifty-five patients (22 ≤ 21 years old) were identified. The median follow-up time was 6.8 years. Among 37 patients with limited-stage (I-II) disease, treatments included involved field RT at a median dose of 36 Gy (n=9), rituximab monotherapy (n=9), observation (n=3), and response-adaptive therapy (n=16), in which the RT dose was reduced from 25.5 Gy to 15 Gy or was eliminated based on interim imaging after chemotherapy. The 5-year progression-free survival (PFS) was 76.4% (95% confidence interval [CI], 63.1-92.4). Nine patients experienced progression, including 5 receiving rituximab, 2 undergoing observation, and 2 receiving response-adaptive therapy. Rituximab was associated with an inferior PFS compared with RT alone (P=.02). The difference in PFS between response-adaptive therapy and RT alone was not statistically significant (P=.39). Among 18 patients with advanced-stage (III-IV) disease, treatments included chemotherapy alone (n=3), combined modality therapy (CMT) (n=2), response-adaptive therapy (n=2), rituximab (n=7), and observation (n=4). The 5-year PFS was 29.9% (CI, 13.3-67.4). Twelve patients experienced progression, including 1 receiving chemotherapy, 1 receiving CMT, 6 receiving rituximab, and 4 undergoing observation. There was no significant PFS difference between rituximab and non-rituximab therapies (P=.19) within the caveat of small sample sizes. In the entire cohort, 9 patients (3 with limited disease, 6 with advanced disease) experienced large cell transformation (LCT). Seven patients died; of those, 5 died with LCT. Conclusions: For limited disease, response-adaptive therapy

  19. Exercise and amyotrophic lateral sclerosis.

    PubMed

    de Almeida, J P Lopes; Silvestre, R; Pinto, A C; de Carvalho, M

    2012-02-01

    Amyotrophic Lateral Sclerosis (ALS) is a progressive and fatal neurodegenerative disease in which much burden is geared towards end-of-life care. Particularly in the earlier stages of ALS, many people have found both physiological and psychological boosts from various types of physical exercise for disused muscles. Proper exercise is important for preventing atrophy of muscles from disuse-a key for remaining mobile for as long as possible-and as long as it is possible to exercise comfortably and safely, for preserving cardiovascular fitness. However, the typical neuromuscular patient features a great physical inactivity and disuse weakness, and for that reason many controversial authors have contested exercise in these patients during years, especially in ALS which is rapidly progressive. There is an urgent need for dissecting in detail the real risks or benefits of exercise in controlled clinical trials to demystify this ancient paradigm. Yet, recent research studies document significant benefits in terms of survival and quality of life in ALS, poor cooperation, small sample size, uncontrolled and short-duration trials, remain the main handicaps. Sedentary barriers such as early fatigue and inherent muscle misuse should be overcome, for instance with body-weight supporting systems or non-invasive ventilation, and exercise should be faced as a potential non-monotonous way for contributing to better health-related quality of life.

  20. Clinical neurophysiology of multiple sclerosis.

    PubMed

    Leocani, Letizia; Comi, Giancarlo

    2014-01-01

    The availability of new treatments able to modify the natural course of multiple sclerosis (MS) has generated interest in paraclinical measures to monitor disease evolution. Among these, neurophysiologic measures, mainly evoked potentials (EPs), are used in the functional assessment of central sensorimotor and cognitive networks affected by MS. EP abnormalities may reveal subclinical lesions, objectivate the involvement of sensory and motor pathways in the presence of vague disturbances, and provide indications of the demyelinating nature of the disease process. However, their diagnostic value is much lower than that of magnetic resonance imaging, and is more sensitive to brain and cervical spinal cord lesions. The application of EPs in assessing disease severity and monitoring the evolution of nervous damage is more promising, thanks to their good correlation with disability in cross-sectional and longitudinal studies, and potential use as paraclinical endpoints in clinical trials. Recent evidence indicates that EPs performed early in the disease may help to predict a worse future progression in the long term. If confirmed, these data suggest the possible usefulness of EPs in the early identification of patients who are more likely to develop future disability, thus requiring more frequent monitoring or being potential candidates for more aggressive disease-modifying treatments.

  1. Neuroendocrine Immunoregulation in Multiple Sclerosis

    PubMed Central

    Lee, Wai-Ping; Berneman, Zwi N.

    2013-01-01

    Currently, it is generally accepted that multiple sclerosis (MS) is a complex multifactorial disease involving genetic and environmental factors affecting the autoreactive immune responses that lead to damage of myelin. In this respect, intrinsic or extrinsic factors such as emotional, psychological, traumatic, or inflammatory stress as well as a variety of other lifestyle interventions can influence the neuroendocrine system. On its turn, it has been demonstrated that the neuroendocrine system has immunomodulatory potential. Moreover, the neuroendocrine and immune systems communicate bidirectionally via shared receptors and shared messenger molecules, variously called hormones, neurotransmitters, or cytokines. Discrepancies at any level can therefore lead to changes in susceptibility and to severity of several autoimmune and inflammatory diseases. Here we provide an overview of the complex system of crosstalk between the neuroendocrine and immune system as well as reported dysfunctions involved in the pathogenesis of autoimmunity, including MS. Finally, possible strategies to intervene with the neuroendocrine-immune system for MS patient management will be discussed. Ultimately, a better understanding of the interactions between the neuroendocrine system and the immune system can open up new therapeutic approaches for the treatment of MS as well as other autoimmune diseases. PMID:24382974

  2. Therapeutic targets in systemic sclerosis

    PubMed Central

    Denton, Christopher P

    2007-01-01

    The precise aetiology of systemic sclerosis (SSc) remains elusive, but significant advances over the past few years have improved our understanding of the underlying pathogenic processes and identified key pathways and mediators that are potential therapeutic targets. The situation is complicated by the clinical heterogeneity of SSc and the differential pathogenesis that underlies the two commonest subsets, namely diffuse and limited cutaneous disease. However, there are common mediators that could be targeted to provide clinical benefit in both types of disease. To date, clinical success with therapies directed against logical profibrotic mediators, such as connective tissue growth factor and transforming growth factor-β, is yet to be reported, although studies are ongoing. More promising clinical results have been obtained with the dual endothelin receptor antagonist bosentan, which has been shown to manage two vascular complications of SSc effectively: pulmonary arterial hypertension and digital ulceration. It remains to be determined whether the identification of additional mediators merely furthers our knowledge of the natural history of SSc or presents targets that can be manipulated to manage SSc patients effectively. PMID:17767744

  3. Fibronectin in multiple sclerosis lesions.

    PubMed Central

    Sobel, R. A.; Mitchell, M. E.

    1989-01-01

    Cryostat sections of central nervous system (CNS) tissues of patients with multiple sclerosis (MS) and other CNS diseases were stained with antibodies to fibronectin, a macrophage fibronectin receptor component, fibrin/fibrinogen, and albumin using immunoperoxidase. In active, but not inactive, MS plaques vessel fibronectin was increased (to approximately 57% of Factor VIII+ vessels) over uninvolved MS and normal control white matter (P less than 0.001 for both). Fibronectin was primarily localized to vessel walls and amount of staining correlated with degree of inflammation. Active plaques and necrotic lesions also had extracellular fibronectin and fibrin/ogen. These molecules and the fibronectin receptor were found on macrophages. Albumin was more widely and diffusely distributed in lesions than fibronectin. Thus, in addition to extravasation from damaged vessels, fibronectin may be deposited on or synthesized by endothelial cells and macrophages in the CNS. Fibronectin could facilitate monocyte adhesion to endothelial cell luminal surfaces, promote migration of mononuclear cells, and enhance myelin phagocytosis in MS lesions. Images Figure 1 Figure 2 PMID:2528301

  4. Tuberous Sclerosis Complex: Perioperative Considerations

    PubMed Central

    Rabito, Matthew J.; Kaye, Alan David

    2014-01-01

    Background Tuberous sclerosis complex (TSC), also known as Bourneville disease, is an inherited, progressive neurocutaneous disorder characterized by the potential for hamartoma formation throughout the body. TSC is an autosomal dominant genetic disorder, but more than two-thirds of cases are sporadic. Methods Clinical manifestations and treatment options are discussed. Both surgical and anesthetic perioperative considerations are described in this review. Results Routine monitoring is appropriate for minor surgical procedures for patients with TSC who have mild disease manifestations. More extensive monitoring is indicated for major procedures that have the potential for significant blood loss and for patients with more severe pathology. Postoperatively, TSC patients should be admitted for monitoring and treatment after more extensive procedures or if significant organ dysfunction occurs. Postoperative complications, which may be related to either the surgery or the TSC pathology itself, may have origins in many different organs and may include seizures, severe hypertension, and bradyarrhythmias. Conclusion TSC is a rare disease with a highly variable clinical presentation and provides a multitude of challenges for the patient, the family, and the healthcare team. PMID:24940133

  5. Islamic fasting and multiple sclerosis

    PubMed Central

    2014-01-01

    Background Month-long daytime Ramadan fasting pose s major challenges to multiple sclerosis (MS) patients in Muslim countries. Physicians should have practical knowledge on the implications of fasting on MS. We present a summary of database searches (Cochrane Database of Systematic Reviews, PubMed) and a mini-symposium on Ramadan fasting and MS. In this symposium, we aimed to review the effect of fasting on MS and suggest practical guidelines on management. Discussion In general, fasting is possible for most stable patients. Appropriate amendment of drug regimens, careful monitoring of symptoms, as well as providing patients with available evidence on fasting and MS are important parts of management. Evidence from experimental studies suggests that calorie restriction before disease induction reduces inflammation and subsequent demyelination and attenuates disease severity. Fasting does not appear to have unfavorable effects on disease course in patients with mild disability (Expanded Disability Status Scale (EDSS) score ≤3). Most experts believed that during fasting (especially in summer), some MS symptoms (fatigue, fatigue perception, dizziness, spasticity, cognitive problems, weakness, vision, balance, gait) might worsen but return to normal levels during feasting. There was a general consensus that fasting is not safe for patients: on high doses of anti-convulsants, anti-spastics, and corticosteroids; with coagulopathy or active disease; during attacks; with EDSS score ≥7. Summary These data suggest that MS patients should have tailored care. Fasting in MS patients is a challenge that is directly associated with the spiritual belief of the patient. PMID:24655543

  6. Multiple sclerosis and sexual dysfunction

    PubMed Central

    Guo, Zhen-Ni; He, Si-Yuan; Zhang, Hong-Liang; Wu, Jiang; Yang, Yi

    2012-01-01

    Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system characterized by episodic and progressive neurologic dysfunction resulting from inflammatory and autoimmune reactions. The underlying pathogenesis of MS remains largely unclear. However, it is currently accepted as a T cell-mediated autoimmune disease. Among other clinical manifestations, sexual dysfunction (SD) is a painful but still underreported and underdiagnosed symptom of the disorder. SD in MS patients may result from a complex set of conditions and may be associated with multiple anatomic, physiologic, biologic, medical and psychological factors. SD arises primarily from lesions affecting the neural pathways involved in physiologic function. In addition, psychological factors, the side effects of medications and physical symptoms such as fatigue, muscular weakness, menstrual changes, pain and concerns about bladder and bowel incontinence may also be involved. Since MS primarily affects young people, SD secondary to MS may have a great impact on quality of life. Thus, maintaining a healthy sexual life with MS is an important priority. The treatment of SD requires multidisciplinary teamwork and cooperation among specialists, individual patients, partners and the society. PMID:22447199

  7. [Oral treatments in multiple sclerosis].

    PubMed

    Meca-Lallana, José Eustasio; Hernández-Clares, Rocío; Carreón-Guarnizo, Ester

    2014-12-01

    The development of new disease-modifying drugs (DMD) in relapsing-remitting multiple sclerosis (RRMS), which share the common denominator of oral administration, considerably improves patient expectations in terms of effectiveness, tolerability and treatment adherence compared with currently available drugs. However, the common route of administration of these drugs does not mean that they are equivalent, since the heading of "oral route" encompasses drugs with distinct indications and mechanisms of action, as well as heterogeneous results in terms of efficacy and safety, allowing treatment to be personalized according to the each patient' s characteristics. Currently, four oral DMD are available or in an advanced stage of clinical development: fingolimod, teriflunomide, dimethyl fumarate and laquinimod. In pivotal trials versus placebo, these molecules reduced the annualized rate of exacerbations versus placebo by 54%, 31%, 53% and 23%, respectively, the risk of progression of disability by 31%, 30%, 38% and 36%, and the number of active lesions showing contrast uptake on magnetic resonance imaging by 82%, 80%, 90% and 37%, respectively. Based on the risk/benefit ratio, fingolimod is indicated in patients with suboptimal response to initial DMD or in severe rapidly progressing RRMS, while the remaining drugs can be used as first-line options. Clinical experience with these treatments will provide new data on safety and effectiveness, which will be determinant when establishing therapeutic algorithms.

  8. Anti-integrin therapy for multiple sclerosis.

    PubMed

    Kawamoto, Eiji; Nakahashi, Susumu; Okamoto, Takayuki; Imai, Hiroshi; Shimaoka, Motomu

    2012-01-01

    Integrins are the foremost family of cell adhesion molecules that regulate immune cell trafficking in health and diseases. Integrin alpha4 mediates organ-specific migration of immune cells to the inflamed brain, thereby playing the critical role in the pathogenesis of multiple sclerosis. Anti-alpha4 integrin therapy aiming to block infiltration of autoreactive lymphocytes to the inflamed brain has been validated in several clinical trials for the treatment of multiple sclerosis. This paper provides readers with an overview of the molecular and structural bases of integrin activation as well as rationale for using anti-alpha4 integrin therapy for multiple sclerosis and then chronicles the rise and fall of this treatment strategy using natalizumab, a humanized anti-alpha4 integrin.

  9. Role of Chlamydia in Multiple Sclerosis.

    PubMed

    Ivanova, M V; Kolkova, N I; Morgunova, E Yu; Pashko, Yu P; Zigangirova, N A; Zakharova, M N

    2015-09-01

    Chlamydia and antibodies to them were detected by serological, molecular biological, and culture methods in the sera and cerebrospinal fluid of patients with multiple sclerosis and in the reference groups of subjects without neurological diseases. Correlations between the agent presence in the biological fluids of patients and clinical characteristics of the disease were analyzed. C. pneumoniae were more incident in the biological liquids of patients with multiple sclerosis than in healthy volunteers. On the other hand, the incidence of the agent in the patients was not high and its presence did not correlate with the clinical manifestations. C. trachomatis was equally rare in the patients and volunteers. The studies indicated the existence of a group of patients infected by C. pneumoniae in the cohort of patients with multiple sclerosis, but the impact of this agent for the disease course remains unclear.

  10. Dropped head syndrome and Systemic sclerosis.

    PubMed

    Rosato, Edoardo; Rossi, Carmelina; Salsano, Felice

    2009-05-01

    The prominent or isolated weakness of cervical extensor muscles is a relatively rare clinical sign. Commonly, this is known as "dropped-head syndrome". This abnormal flexion of the head may occur in a variety of neuromuscular diseases and in a few non-neurological disorders as well. Systemic sclerosis is a clinically heterogeneous disorder which affects small arteries, microvessels and connective tissue with the involvement of multiple organs such as lung, heart, kidney and gastrointestinal tract. There is no evidence in literature of association between dropped head syndrome and rheumatic diseases, particularly systemic sclerosis. The case we describe concerns a 74-year-old woman with dropped-head syndrome associated to Systemic sclerosis and pulmonary hypertension in absence of myositis signs.

  11. Cerebral blood flow and red cell delivery in normal subjects and in multiple sclerosis

    SciTech Connect

    Swank, R.L.; Roth, J.G.; Woody, D.C. Jr.

    1983-01-01

    Regional cerebral blood flow (rCBF) was determined in 77 normal females and 53 normal males of different ages and in 26 men and 45 women with multiple sclerosis by the inhalation of radioactive Xe133 method. In the normal subjects the CBF was relatively high in the teens and fell, at first rapidly and then slowly in both sexes with age. During adult life the flow in females was significantly higher than in males. The delivery of packed red cells (RCD) was determined by multiplying the CBF by the percentage concentration of red cells (HCT). The RCD for both sexes was nearly the same. In the patients with multiple sclerosis there occurred a progressive generalized decrease in CBF and in RCD with age which was significantly greater than observed in normal subjects. The rate of decrease in CBF and RCD correlated directly with the rate of progress of the disease.

  12. Amyotrophic Lateral Sclerosis: A Historical Perspective.

    PubMed

    Katz, Jonathan S; Dimachkie, Mazen M; Barohn, Richard J

    2015-11-01

    This article looks back in time to see where the foundational basis for the understanding of amyotrophic lateral sclerosis originated. This foundation was created primarily in France by Jean-Martin Charcot and his fellow countrymen and disciples, along with key contributions from early clinicians in England and Germany. The early work on amyotrophic lateral sclerosis provides a useful foundation for today's clinicians with respect to tying together genetic and biologic aspects of the disorder that have been discovered over the past few decades.

  13. Quality of life in mulptiple sclerosis

    PubMed Central

    Jaracz, K; Brola, W

    2010-01-01

    An overall aim of treatment in multiple sclerosis is to lower the negative impact of the disease on functioning and quality of life of patients. Therefore, a measurement of functioning and quality of life should be included in the evaluation of the effectiveness of treatment. In this paper the most commonly used quality of life questionnaires, either generic and specific, were presented. Information about clinical and functional status is useful in the interpretation of the quality of life assessment results. Because of that, instruments for the assessment of depression, cognitive functions, functional ability and fatigue in multiple sclerosis were also described. PMID:21254730

  14. Are cannabinoids effective in multiple sclerosis?

    PubMed

    Meza, Rodrigo; Peña, Javier; García, Karen; Corsi, Oscar; Rada, Gabriel

    2017-03-10

    Multiple beneficial effects have been proposed lately for cannabinoids in different clinical situations. Among them, it has been postulated they would control symptoms of multiple sclerosis. However, there is no consensus about their real clinical role. To answer this question, we searched in Epistemonikos database, which is maintained by screening multiple databases. We identified 25 systematic reviews including 35 studies overall, of which 26 were randomized trials. We extracted data, conducted a meta-analysis and generated a summary of findings table using the GRADE approach. We concluded cannabinoids in multiple sclerosis do not reduce spasticity or pain, and are probably associated to frequent adverse effects.

  15. [Large vessels vasculopathy in systemic sclerosis].

    PubMed

    Tejera Segura, Beatriz; Ferraz-Amaro, Iván

    2015-12-07

    Vasculopathy in systemic sclerosis is a severe, in many cases irreversible, manifestation that can lead to amputation. While the classical clinical manifestations of the disease have to do with the involvement of microcirculation, proximal vessels of upper and lower limbs can also be affected. This involvement of large vessels may be related to systemic sclerosis, vasculitis or atherosclerotic, and the differential diagnosis is not easy. To conduct a proper and early diagnosis, it is essential to start prompt appropriate treatment. In this review, we examine the involvement of large vessels in scleroderma, an understudied manifestation with important prognostic and therapeutic implications.

  16. Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature

    PubMed Central

    Siegfried, Aurore; Bertozzi, Anne Isabelle; Bourdeaut, Franck; Sevely, Annick; Loukh, Najat; Grison, Camille; Miquel, Catherine; Lafon, Delphine; Sevenet, Nicolas; Pietsch, Torsten; Dufour, Christelle; Delisle, Marie-Bernadette

    2016-01-01

    The aim of this study was to better define the clinical and biopathological features of patients with desmoplastic/nodular medulloblastoma (DNMB) and to further characterize this subgroup. 17 children aged < 5 years, with initial DNMB treated according to the HIT-SKK protocol, were evaluated. A retrospective central radiological review, a pathological and immunohistochemical study, and array-CGH and sequencing of germline SUFU and PTCH1 genes were performed. 15 histologically reviewed cases were confirmed as DNMB including three cases of medulloblastoma with extensive nodularity. Median age at diagnosis was 26 months. Radiology showed five cases with a vermis location and one with T2 hyperintensity. All cases showed a SHH immuno-profile. A 9q deletion was found in 6 cases, a MYCN–MYCL amplification in 1 case, and a SUFU germline mutation in 1 case (/9). The presence of SUFU and PTCH1 germline mutations agreed with previous reports. At 3 years, progression-free survival and overall-survival rates were 72 ± 15% and 85 ± 10%, respectively. The rate of recurrence was relatively high (4 patients). This may have been because chemotherapy was delayed in two cases. Age > 3 years, and residual tumor may also have been an explanation for recurrence. PMID:26857864

  17. Podocyte-Specific VEGF-A Gain of Function Induces Nodular Glomerulosclerosis in eNOS Null Mice

    PubMed Central

    Veron, Delma; Aggarwal, Pardeep K.; Velazquez, Heino; Kashgarian, Michael; Moeckel, Gilbert

    2014-01-01

    VEGF-A and nitric oxide are essential for glomerular filtration barrier homeostasis and are dysregulated in diabetic nephropathy. Here, we examined the effect of excess podocyte VEGF-A on the renal phenotype of endothelial nitric oxide synthase (eNOS) knockout mice. Podocyte-specific VEGF164 gain of function in eNOS−/− mice resulted in nodular glomerulosclerosis, mesangiolysis, microaneurysms, and arteriolar hyalinosis associated with massive proteinuria and renal failure in the absence of diabetic milieu or hypertension. In contrast, podocyte-specific VEGF164 gain of function in wild-type mice resulted in less pronounced albuminuria and increased creatinine clearance. Transmission electron microscopy revealed glomerular basement membrane thickening and podocyte effacement in eNOS−/− mice with podocyte-specific VEGF164 gain of function. Furthermore, glomerular nodules overexpressed collagen IV and laminin extensively. Biotin-switch and proximity ligation assays demonstrated that podocyte-specific VEGF164 gain of function decreased glomerular S-nitrosylation of laminin in eNOS−/− mice. In addition, treatment with VEGF-A decreased S-nitrosylated laminin in cultured podocytes. Collectively, these data indicate that excess glomerular VEGF-A and eNOS deficiency is necessary and sufficient to induce Kimmelstiel-Wilson–like nodular glomerulosclerosis in mice through a process that involves deposition of laminin and collagen IV and de-nitrosylation of laminin. PMID:24578128

  18. Active Mg Estimation Using Thermal Analysis: A Rapid Method to Control Nodularity in Ductile Cast Iron Production

    NASA Astrophysics Data System (ADS)

    Suárez, Ramon; Sertucha, Jon; Larrañaga, Pello; Lacaze, Jacques

    2016-10-01

    Appropriate nodularity in ductile iron castings is strongly associated with the presence of high enough not combined Mg dissolved in the melt to cast. However, the residual Mg which is commonly measured for production control accounts for both dissolved Mg and Mg combined as oxides and sulfides. To account for the uncertainties associated with such a control, it is quite usual to over treat the melt with the risk of porosity appearance. A new methodology based on thermal analysis has been developed in the present work so as to estimate the amount of free Mg dissolved in the melt ready for pouring. A combination of Te mixture and a new "reactive mixture" composed of sulfur plus a commercial inoculant has been prepared for this purpose. This reactive mixture is able to transform the magnesium remaining dissolved in the melt to combined forms of this element. Experiments performed both during start of production (when Mg overtreatment is usual) and during normal mass production indicate that important variations of free Mg occur without relevant changes in residual Mg content as determined by spectrometry. The method developed in the present work has shown to be highly effective to detect those melt batches where active Mg content is not high enough for guaranteeing a correct nodularity of castings. Selection of proper active Mg thresholds and a correct inoculation process are critical to avoid "false"-negative results when using this new method.

  19. System xC- is a mediator of microglial function and its deletion slows symptoms in amyotrophic lateral sclerosis mice.

    PubMed

    Mesci, Pinar; Zaïdi, Sakina; Lobsiger, Christian S; Millecamps, Stéphanie; Escartin, Carole; Seilhean, Danielle; Sato, Hideyo; Mallat, Michel; Boillée, Séverine

    2015-01-01

    Amyotrophic lateral sclerosis is the most common adult-onset motor neuron disease and evidence from mice expressing amyotrophic lateral sclerosis-causing SOD1 mutations suggest that neurodegeneration is a non-cell autonomous process where microglial cells influence disease progression. However, microglial-derived neurotoxic factors still remain largely unidentified in amyotrophic lateral sclerosis. With excitotoxicity being a major mechanism proposed to cause motor neuron death in amyotrophic lateral sclerosis, our hypothesis was that excessive glutamate release by activated microglia through their system [Formula: see text] (a cystine/glutamate antiporter with the specific subunit xCT/Slc7a11) could contribute to neurodegeneration. Here we show that xCT expression is enriched in microglia compared to total mouse spinal cord and absent from motor neurons. Activated microglia induced xCT expression and during disease, xCT levels were increased in both spinal cord and isolated microglia from mutant SOD1 amyotrophic lateral sclerosis mice. Expression of xCT was also detectable in spinal cord post-mortem tissues of patients with amyotrophic lateral sclerosis and correlated with increased inflammation. Genetic deletion of xCT in mice demonstrated that activated microglia released glutamate mainly through system [Formula: see text]. Interestingly, xCT deletion also led to decreased production of specific microglial pro-inflammatory/neurotoxic factors including nitric oxide, TNFa and IL6, whereas expression of anti-inflammatory/neuroprotective markers such as Ym1/Chil3 were increased, indicating that xCT regulates microglial functions. In amyotrophic lateral sclerosis mice, xCT deletion surprisingly led to earlier symptom onset but, importantly, this was followed by a significantly slowed progressive disease phase, which resulted in more surviving motor neurons. These results are consistent with a deleterious contribution of microglial-derived glutamate during symptomatic

  20. Systemic sclerosis and malignancy: a review of the literature.

    PubMed

    Wooten, Marc

    2008-01-01

    Malignancy is associated with systemic sclerosis in between 3.6 and 10.7% of patients diagnosed with systemic sclerosis. The diagnosis of systemic sclerosis may occur before, concurrent with, or after the diagnosis of malignancy. All published reports of malignancy with systemic sclerosis are reviewed. Lung cancer is the most frequent type of cancer seen in patients with systemic sclerosis, followed by breast cancer. Risk factors for the development of malignancy in patients with systemic sclerosis are female gender, increased age, and diffuse systemic sclerosis. Autoantibodies such as anticentromere and antitopoisomerase I are inconsistent in their risk for developing malignancy. Vigilance is recommended in this group of patients based on their increased risk of developing cancer.

  1. Anal sphincter dysfunction in multiple sclerosis: an observation manometric study.

    PubMed

    Marola, Silvia; Ferrarese, Alessia; Gibin, Enrico; Capobianco, Marco; Bertolotto, Antonio; Enrico, Stefano; Solej, Mario; Martino, Valter; Destefano, Ines; Nano, Mario

    2016-01-01

    Constipation, obstructed defecation, and fecal incontinence are frequent complaints in multiple sclerosis. The literature on the pathophysiological mechanisms underlying these disorders is scant. Using anorectal manometry, we compared the anorectal function in patients with and without multiple sclerosis. 136 patients referred from our Center for Multiple Sclerosis to the Coloproctology Outpatient Clinic, between January 2005 and December 2011, were enrolled. The patients were divided into four groups: multiple sclerosis patients with constipation (group A); multiple sclerosis patients with fecal incontinence (group B); non-multiple sclerosis patients with constipation (group C); non-multiple sclerosis patients with fecal incontinence (group D). Anorectal manometry was performed to measure: resting anal pressure; maximum squeeze pressure; rectoanal inhibitory reflex; filling pressure and urge pressure. The difference between resting anal pressure before and after maximum squeeze maneuvers was defined as the change in resting anal pressure calculated for each patient.

  2. Defective immunoregulation in multiple sclerosis.

    PubMed

    Goust, J M; Hoffman, P M; Pryjma, J; Hogan, E L; Fudenberg, H H

    1980-11-01

    Imbalances in T cell subpopulations have been reported in multiple sclerosis (MS). In the present study of 31 MS patients, the percentage of T cells with Fc receptors for IgG (Tg) was found to be increased in patients with chronic progressive disease, and another T cell subset binding to the Raji B lymphoid cell line was decreased. An inverse correlation (r = -0.675; < 95% confidence limit) was found between these two subsets, suggesting that they vary inversely in MS. The mitogenic responses of MS mononuclear cells, isolated T cells, and recombinet T and non-T cells to the lectins phytohemagglutinin and pokeweek mitogen (PWM) did not differ from those of normal cells. However, more immunoglobulin (Ig)-producing cells were generated in a PWM-driven system with cells from MS patients than with cells from age-matched controls (p < 0.05). Autologous recombination of separated T and non-T cells did not significantly modify these results. T cells from MS patients added to B cells from normal controls exerted an effect that was related to their percentage of Tg cells; that is, values above 15% were associated with a suppression of Ig production, whereas for Tg values below 12%, a helper effect or no modification was observed. These results suggest that changes in T cell subsets in MS are related to changes in functional ability to modulate Ig production by normal B cells. However, MS B cells partly escape regulation by their own T cells, suggesting an associated B cell hyperactivity.

  3. Targeted Therapy in Systemic Sclerosis

    PubMed Central

    Baron, Murray

    2016-01-01

    Targeted therapies use an understanding of the pathophysiology of a disease in an individual patient. Although targeted therapy for systemic sclerosis (SSc, scleroderma) has not yet reached the level of patient-specific treatments, recent developments in the understanding of the global pathophysiology of the disease have led to new treatments based on the cells and pathways that have been shown to be involved in the disease pathogenesis. The presence of a B cell signature in skin biopsies has led to the trial of rituximab, an anti-CD20 antibody, in SSc. The well-known properties of transforming growth factor (TGF)-β in promoting collagen synthesis and secretion has led to a small trial of fresolimumab, a human IgG4 monoclonal antibody capable of neutralizing TGF-β. Evidence supporting important roles for interleukin-6 in the pathogenesis of SSc have led to a large trial of tocilizumab in SSc. Soluble guanylate cyclase (sGC) is an enzyme that catalyzes the production of cyclic guanosine monophosphate (cGMP) upon binding of nitric oxide (NO) to the sGC molecule. Processes such as cell growth and proliferation are regulated by cGMP. Evidence that sGC may play a role in SSc has led to a trial of riociguat, a molecule that sensitizes sGC to endogenous NO. Tyrosine kinases (TKs) are involved in a wide variety of physiologic and pathological processes including vascular remodeling and fibrogenesis such as occurs in SSc. This has led to a trial of nintedanib, a next-generation tyrosine-kinase (TK) inhibitor which targets multiple TKs, in SSc. PMID:27824545

  4. Nutrition Facts in Multiple Sclerosis

    PubMed Central

    Rossano, Rocco

    2015-01-01

    The question whether dietary habits and lifestyle have influence on the course of multiple sclerosis (MS) is still a matter of debate, and at present, MS therapy is not associated with any information on diet and lifestyle. Here we show that dietary factors and lifestyle may exacerbate or ameliorate MS symptoms by modulating the inflammatory status of the disease both in relapsing-remitting MS and in primary-progressive MS. This is achieved by controlling both the metabolic and inflammatory pathways in the human cell and the composition of commensal gut microbiota. What increases inflammation are hypercaloric Western-style diets, characterized by high salt, animal fat, red meat, sugar-sweetened drinks, fried food, low fiber, and lack of physical exercise. The persistence of this type of diet upregulates the metabolism of human cells toward biosynthetic pathways including those of proinflammatory molecules and also leads to a dysbiotic gut microbiota, alteration of intestinal immunity, and low-grade systemic inflammation. Conversely, exercise and low-calorie diets based on the assumption of vegetables, fruit, legumes, fish, prebiotics, and probiotics act on nuclear receptors and enzymes that upregulate oxidative metabolism, downregulate the synthesis of proinflammatory molecules, and restore or maintain a healthy symbiotic gut microbiota. Now that we know the molecular mechanisms by which dietary factors and exercise affect the inflammatory status in MS, we can expect that a nutritional intervention with anti-inflammatory food and dietary supplements can alleviate possible side effects of immune-modulatory drugs and the symptoms of chronic fatigue syndrome and thus favor patient wellness. PMID:25694551

  5. [Hypothalamic involvement in multiple sclerosis].

    PubMed

    Darlix, A; Mathey, G; Monin, M-L; Sauvée, M; Braun, M; Schaff, J-L; Debouverie, M

    2012-05-01

    Hypothalamic involvement is a rare condition in patients with multiple sclerosis (MS). We report two patients with a long history of MS who presented with severe acute hypothermia with associated thrombocytopenia and elevated transaminase levels. Several cases of hypothermia or hyperthermia in patients with MS have been reported in the literature. They could be linked with hypothalamic lesions, in particular in the pre-optic area. However, other anatomical locations seem to be involved in thermoregulation and can be affected by MS. Besides, some cases of syndrome of inappropriate antidiuretic hormone secretion have been reported in patients with MS. Finally, some sleep disorders, particularly hypersomnia or narcolepsy, could be related to hypothalamic lesions, through the fall in hypocretin-1 in the cerebrospinal fluid. Hypocretin-1 is a neuropeptide that is secreted by some hypothalamic cells. It plays a role in the sleep-awake rhythm. We report one patient with narcolepsy and cataplexy before the first symptoms of MS appeared. Hypothalamic signs are rare in MS. However, several series of autopsies have shown a high frequency of demyelinating lesions in the hypothalamic area. Among these lesions, the proportion of active lesions seems elevated. Yet only few of them have a clinical or biological translation such as thermoregulation dysfunction, sleep disorders or natremia abnormalities. Thus, it seems unlikely that inflammatory hypothalamic lesions alone, even when bilateral, could be the explanation of these signs. A sufficient number of inflammatory demyelinating lesions, which we can observe in patients with a long history of MS and an already severe disability, is probably necessary to develop such a rare symptomatology. Hypothalamic signs might be a factor of poor prognosis for the disease course and progression of the disability.

  6. Social cognition in multiple sclerosis

    PubMed Central

    Firth, Joseph; Enzinger, Christian; Kontopantelis, Evangelos; Yung, Alison R.; Elliott, Rebecca; Drake, Richard J.

    2016-01-01

    Objective: To quantify the magnitude of deficits in theory of mind (ToM) and facial emotion recognition among patients with multiple sclerosis (MS) relative to healthy controls. Methods: An electronic database search of Ovid MEDLINE, PsycINFO, and Embase was conducted from inception to April 1, 2016. Eligible studies were original research articles published in peer-reviewed journals that examined ToM or facial emotion recognition among patients with a diagnosis of MS and a healthy control comparison group. Data were independently extracted by 2 authors. Effect sizes were calculated using Hedges g. Results: Twenty-one eligible studies were identified assessing ToM (12 studies) and/or facial emotion recognition (13 studies) among 722 patients with MS and 635 controls. Deficits in both ToM (g = −0.71, 95% confidence interval [CI] −0.88 to −0.55, p < 0.001) and facial emotion recognition (g = −0.64, 95% CI −0.81 to −0.47, p < 0.001) were identified among patients with MS relative to healthy controls. The largest deficits were observed for visual ToM tasks and for the recognition of negative facial emotional expressions. Older age predicted larger emotion recognition deficits. Other cognitive domains were inconsistently associated with social cognitive performance. Conclusions: Social cognitive deficits are an overlooked but potentially important aspect of cognitive impairment in MS with potential prognostic significance for social functioning and quality of life. Further research is required to clarify the longitudinal course of social cognitive dysfunction, its association with MS disease characteristics and neurocognitive impairment, and the MS-specific neurologic damage underlying these deficits. PMID:27655736

  7. Nutrition facts in multiple sclerosis.

    PubMed

    Riccio, Paolo; Rossano, Rocco

    2015-01-01

    The question whether dietary habits and lifestyle have influence on the course of multiple sclerosis (MS) is still a matter of debate, and at present, MS therapy is not associated with any information on diet and lifestyle. Here we show that dietary factors and lifestyle may exacerbate or ameliorate MS symptoms by modulating the inflammatory status of the disease both in relapsing-remitting MS and in primary-progressive MS. This is achieved by controlling both the metabolic and inflammatory pathways in the human cell and the composition of commensal gut microbiota. What increases inflammation are hypercaloric Western-style diets, characterized by high salt, animal fat, red meat, sugar-sweetened drinks, fried food, low fiber, and lack of physical exercise. The persistence of this type of diet upregulates the metabolism of human cells toward biosynthetic pathways including those of proinflammatory molecules and also leads to a dysbiotic gut microbiota, alteration of intestinal immunity, and low-grade systemic inflammation. Conversely, exercise and low-calorie diets based on the assumption of vegetables, fruit, legumes, fish, prebiotics, and probiotics act on nuclear receptors and enzymes that upregulate oxidative metabolism, downregulate the synthesis of proinflammatory molecules, and restore or maintain a healthy symbiotic gut microbiota. Now that we know the molecular mechanisms by which dietary factors and exercise affect the inflammatory status in MS, we can expect that a nutritional intervention with anti-inflammatory food and dietary supplements can alleviate possible side effects of immune-modulatory drugs and the symptoms of chronic fatigue syndrome and thus favor patient wellness.

  8. Antinuclear Antibody Negative Systemic Sclerosis

    PubMed Central

    Salazar, GA; Assassi, S; Wigley, F; Hummers, L; Varga, J; Hinchcliff, M; Khanna, D; Schiopu, E; Phillips, K; Furst, DE; Steen, V; Baron, M; Hudson, M; Taillefer, SS; Pope, J; Jones, N; Docherty, P; Khalidi, NA; Robinson, D; Simms, R; Silver, R; Frech, TM; Fessler, B; Molitor, J; Fritzler, M; Segal, B; Al-Kassab, F; Perry, M; Yang, J; Zamanian, S; Reveille, JD; Arnett, FC; Pedroza, C; Mayes, MD

    2014-01-01

    Objective To examine the demographic and clinical characteristics of systemic sclerosis (SSc) patients without antinuclear antibodies (ANA) compared to ANA positive patients. Methods SSc patients enrolled in the Scleroderma Family Registry and DNA Repository were included. Relevant demographic and clinical data were entered by participating sites or obtained by chart review. ANA and SSc related antibodies were determined in all investigated patients using commercially available kits at our laboratories. Results This study included 3249 patients, of whom 208 (6.4%) were ANA negative. The proportion of male patients was higher in the ANA negative group (OR 1.65; p=0.008). ANA negative patients experienced less vasculopathic manifestations of SSc. The percent predicted diffusing capacity of carbon monoxide (DLco) was higher in ANA negative patients (p=0.03). Pulmonary arterial hypertension (PAH) per right heart catheterization was less common in the ANA negative group (OR= 0.28; p=0.03). Furthermore, patients with negative ANA had a lower prevalence of telangiectasias and digital ulcers/pits (OR= 0.59; p=0.03 and OR=0.38; p=0.01, respectively). Although diffuse cutaneous involvement was more common, the modified Rodnan Skin Score (mRSS) was lower in the ANA negative group (2.4 points lower, p=0.05). Furthermore, they experienced more malabsorption (p=0.05). There was no difference in the frequency of pulmonary fibrosis or scleroderma renal crisis. All-cause mortality was not different between the two groups (p=0.28). Conclusions In conclusion, the results of this study suggest that SSc patients who are ANA negative constitute a distinct subset of SSc with less vasculopathy (less PAH, digital ulcers and fewer telangiectasias), a greater proportion of males and possibly, more frequent lower gastrointestinal involvement. PMID:25578738

  9. Iron chelation and multiple sclerosis

    PubMed Central

    Weigel, Kelsey J.; Lynch, Sharon G.; LeVine, Steven M.

    2014-01-01

    Histochemical and MRI studies have demonstrated that MS (multiple sclerosis) patients have abnormal deposition of iron in both gray and white matter structures. Data is emerging indicating that this iron could partake in pathogenesis by various mechanisms, e.g., promoting the production of reactive oxygen species and enhancing the production of proinflammatory cytokines. Iron chelation therapy could be a viable strategy to block iron-related pathological events or it can confer cellular protection by stabilizing hypoxia inducible factor 1α, a transcription factor that normally responds to hypoxic conditions. Iron chelation has been shown to protect against disease progression and/or limit iron accumulation in some neurological disorders or their experimental models. Data from studies that administered a chelator to animals with experimental autoimmune encephalomyelitis, a model of MS, support the rationale for examining this treatment approach in MS. Preliminary clinical studies have been performed in MS patients using deferoxamine. Although some side effects were observed, the large majority of patients were able to tolerate the arduous administration regimen, i.e., 6–8 h of subcutaneous infusion, and all side effects resolved upon discontinuation of treatment. Importantly, these preliminary studies did not identify a disqualifying event for this experimental approach. More recently developed chelators, deferasirox and deferiprone, are more desirable for possible use in MS given their oral administration, and importantly, deferiprone can cross the blood–brain barrier. However, experiences from other conditions indicate that the potential for adverse events during chelation therapy necessitates close patient monitoring and a carefully considered administration regimen. PMID:24397846

  10. Amyotrophic lateral sclerosis: the role of exercise.

    PubMed

    Lisle, Stuart; Tennison, Matthew

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a chronic progressive neurodegenerative disease affecting both the upper and lower motor neurons. Given the deterioration of skeletal muscle function, historically there has been concern regarding exercise and its affect on ALS. This article reviews and explains current research, helping patients, caregivers, and providers be equipped better to make decisions regarding the treatment of ALS with exercise.

  11. Clinical Psychology and Amyotrophic Lateral Sclerosis

    PubMed Central

    Pagnini, Francesco; Rossi, Gabriella; Lunetta, Christian; Banfi, Paolo; Corbo, Massimo

    2010-01-01

    Amyotrophic lateral sclerosis is a fatal and progressive disease, characterized by progressive muscles weakness, with consequent loss of physical capacities. Psychologists can play an important role in ALS care, by providing clinical activities in every step of the disease, including support and counseling activities directed to patients, their caregivers and to physicians. PMID:21833203

  12. Magnetic resonance sees lesions of multiple sclerosis

    SciTech Connect

    Ziporyn, T.

    1985-02-15

    The value of nuclear magnetic resonance imaging in the diagnosis and quantitation of the progression of multiple sclerosis is discussed. Magnetic resonance imaging generates images that reflect differential density and velocity of hydrogen nuclei between cerebral gray and white matter, as well as between white matter and pathological lesions of the disease.

  13. Cognitive and depressive disorders in multiple sclerosis.

    PubMed

    Alajbegović, Azra; Loga, Natasa; Tiro, Naida; Alajbegović, Salem; Cindro, Veselin; Hozo, Izet

    2009-03-01

    Among other symptoms, multiple sclerosis can also produce symptoms of affective and cognitive disorders. The majority of patients have certain cognitive dysfunctions, and the' most common affective disorder is reactive depression. The aim of the study was to determine the correlation of the Mini-Mental State (MMS) and Beck Depression Inventory (BDI) scale scores with the Expanded Disability Status Scale (EDSS) score in patients with multiple sclerosis treated at University Department of Neurology, Sarajevo University Clinical Center in Sarajevo. We evaluated 50 randomly selected patients with various types of multiple sclerosis using the MMS, BDI and EDSS instruments. The study included 33 women and 17 men (66% : 34%), mean age 40.74 years (SD 9.236). The mean value of EDSS score was 3.98, ranging from 1.0 to 8.5 in women and from 1.0 to 6.5 in men. BDI scale scores showed a mean value of 12.56. The mean MMS score in baseline sample was 26.88. Statistically significant positive correlation was found between age and EDSS score, and negative correlation between EDSS and MMS, as well as between BDI and MMS. Study results indicated older patients with multiple sclerosis to have a higher EDSS score with more pronounced cognitive disturbances. There was no statistically significant correlation between EDSS score and depression.

  14. [Lingual involvement in progressive systemic sclerosis].

    PubMed

    Pila Pérez, R; Pila Peláez, R; Pila Peláez, M; Guerra Rodríguez, C; Rojas Casanova, C

    2000-01-01

    A case of a 40 year old female patient who began to present alterations in the tongue and who was diagnosed of Progressive Sclerosis of that organ is presented. The manifestation and diagnostic tools used in this case, as well as the treatment use, is given. The rareness of this disease, which is possible in systemic diseases, stands out.

  15. Therapeutic strategies in multiple sclerosis. I. Immunotherapy.

    PubMed Central

    Hohlfeld, R

    1999-01-01

    This review first addresses several general aspects of the immunotherapy of multiple sclerosis. Next, two approved immunomodulatory treatments, interferon-beta and copolymer-1 (glatiramer acetate), are reviewed in more detail. Finally, other immunosuppressive therapies and experimental strategies are briefly discussed. PMID:10603621

  16. Physical activity and pediatric multiple sclerosis: Developing a research agenda.

    PubMed

    Yeh, E Ann; Kinnett-Hopkins, Dominique; Grover, Stephanie A; Motl, Robert W

    2015-11-01

    Three-quarters of children with multiple sclerosis (MS) experience fatigue or depression, and progressive neurocognitive decline may be seen as early as two years after MS diagnosis. Furthermore, a higher magnetic resonance imaging disease burden is seen in pediatric-onset MS compared with adult-onset MS. To date, limited knowledge exists regarding behavioral methods for managing symptoms and disease progression in pediatric MS. To that end, this paper builds an evidence-based argument for the possible symptomatic and disease-modifying effects of exercise and physical activity in pediatric MS. This will be accomplished through: (a) a review of pediatric MS and its consequences; (b) a brief overview of physical activity and its consequences in children and adults with MS; and (c) a selective review of research on the neurological benefits of physical activity in pediatric populations. This topical review concludes with a list of 10 questions to guide future research on physical activity and pediatric MS. The objective of this paper is the provision of a research interest, focus and agenda involving pediatric MS and its lifelong management though exercise and physical activity behavior. Such an agenda is critical as the effects and maintenance of physical activity and exercise track across the lifespan, particularly when developed in the early stages of life.

  17. Fructose Malabsorption in Systemic Sclerosis

    PubMed Central

    Marie, Isabelle; Leroi, Anne-Marie; Gourcerol, Guillaume; Levesque, Hervé; Ménard, Jean-François; Ducrotte, Philippe

    2015-01-01

    Abstract The deleterious effect of fructose, which is increasingly incorporated in many beverages, dairy products, and processed foods, has been described; fructose malabsorption has thus been reported in up to 2.4% of healthy subjects, leading to digestive clinical symptoms (eg, pain, distension, diarrhea). Because digestive involvement is frequent in patients with systemic sclerosis (SSc), we hypothesized that fructose malabsorption could be responsible for intestinal manifestations in these patients. The aims of this prospective study were to: determine the prevalence of fructose malabsorption, in SSc; predict which SSc patients are at risk of developing fructose malabsorption; and assess the outcome of digestive symptoms in SSc patients after initiation of standardized low-fructose diet. Eighty consecutive patients with SSc underwent fructose breath test. All SSc patients also completed a questionnaire on digestive symptoms, and a global symptom score (GSS) was calculated. The prevalence of fructose malabsorption was as high as 40% in SSc patients. We also observed a marked correlation between the presence of fructose malabsorption and: higher values of GSS score of digestive symptoms (P = 0.000004); and absence of delayed gastric emptying (P = 0.007). Furthermore, in SSc patients with fructose malabsorption, the median value of GSS score of digestive symptoms was lower after initiation of standardized low-fructose diet (4 before vs. 1 after; P = 0.0009). Our study underscores that fructose malabsorption often occurs in SSc patients. Our findings are thus relevant for clinical practice, highlighting that fructose breath test is a helpful, noninvasive method by: demonstrating fructose intolerance in patients with SSc; and identifying the group of SSc patients with fructose intolerance who may benefit from low-fructose diet. Interestingly, because the present series also shows that low-fructose diet resulted in a marked decrease of gastrointestinal

  18. Lung Volume Recruitment in Multiple Sclerosis

    PubMed Central

    Srour, Nadim; LeBlanc, Carole; King, Judy; McKim, Douglas A.

    2013-01-01

    Introduction Pulmonary function abnormalities have been described in multiple sclerosis including reductions in forced vital capacity (FVC) and cough but the time course of this impairment is unknown. Peak cough flow (PCF) is an important parameter for patients with respiratory muscle weakness and a reduced PCF has a direct impact on airway clearance and may therefore increase the risk of respiratory tract infections. Lung volume recruitment is a technique that improves PCF by inflating the lungs to their maximal insufflation capacity. Objectives Our goals were to describe the rate of decline of pulmonary function and PCF in patients with multiple sclerosis and describe the use of lung volume recruitment in this population. Methods We reviewed all patients with multiple sclerosis referred to a respiratory neuromuscular rehabilitation clinic from February 1999 until December 2010. Lung volume recruitment was attempted in patients with FVC <80% predicted. Regular twice daily lung volume recruitment was prescribed if it resulted in a significant improvement in the laboratory. Results There were 79 patients included, 35 of whom were seen more than once. A baseline FVC <80% predicted was present in 82% of patients and 80% of patients had a PCF insufficient for airway clearance. There was a significant decline in FVC (122.6 mL/y, 95% CI 54.9–190.3) and PCF (192 mL/s/y, 95% 72–311) over a median follow-up time of 13.4 months. Lung volume recruitment was associated with a slower decline in FVC (p<0.0001) and PCF (p = 0.042). Conclusion Pulmonary function and cough decline significantly over time in selected patients with multiple sclerosis and lung volume recruitment is associated with a slower rate of decline in lung function and peak cough flow. Given design limitations, additional studies are needed to assess the role of lung volume recruitment in patients with multiple sclerosis. PMID:23383293

  19. A Nodular Foreign Body Reaction in a Dialysis Patient Receiving Long-term Treatment With Lanthanum Carbonate.

    PubMed

    Valika, Aziz K; Jain, Dhanpat; Jaffe, Phillip E; Moeckel, Gilbert; Brewster, Ursula C

    2016-01-01

    A 63-year-old man with HIV (human immunodeficiency virus) infection and end-stage renal disease, treated with lanthanum carbonate phosphate binder for 4 years, presented with anemia and an upper gastrointestinal bleed. Upper endoscopy revealed a nodular hyperplastic epithelium, with an endoscopic ultrasound confirming hyperechoic material within the nodules. Light microscopy showed collections of histiocytes and multinucleated giant cells containing brown granular cytoplasmic material and extracellular crystalline material, a finding confirmed by electron microscopy. Similar pathologic findings associated with lanthanum exposure have been described recently. In our patient, lanthanum carbonate treatment was withdrawn and gastrointestinal bleeding has since ceased. The patient was exposed to a high amount of lanthanum over a long period, which may explain his adverse reaction. However, other contributing factors, such as competing medications or comorbid conditions, also may have increased his sensitivity to the drug.

  20. Nodular lymphocyte predominant Hodgkin lymphoma in children and adolescents--a comprehensive review of biology, clinical course and treatment options.

    PubMed

    Shankar, Ananth; Daw, Stephen

    2012-11-01

    Nodular lymphocyte predominant Hodgkin lymphoma (nLPHL) is a unique variant of Hodgkin lymphoma with an overall good prognosis. It is conspicuously different from classical Hodgkin lymphoma (cHL) and is now recognized as distinctive form of B cell lymphoma. Although it has an indolent clinical course, it has a propensity for multiple and often late relapses. Although the majority of children present with early stage disease and without B symptoms, treatment strategy has, until recently, been identical to that used for cHL. This approach is excessively toxic as it predisposes these children and adolescents to serious late effects including end organ damage to heart, gonads, lungs, thyroid and second malignant neoplasms. The aim of this article is to review the published literature on the treatment outcomes of nLPHL in affected children and adolescents, and discuss the options for treatment including surgery, chemotherapy, radiotherapy and targeted anti-CD 20 antibody therapy.

  1. Nodular lymphoid hyperplasia of the bowel in primary hypogammaglobulinaemia: study of in vivo and in vitro lymphocyte function.

    PubMed Central

    Webster, A D; Kenwright, S; Ballard, J; Shiner, M; Slavin, G; Levi, A J; Loewi, G; Asherson, G L

    1977-01-01

    In vitro and in vivo lymphocyte function was studied in six patients with primary hypogammaglobulinaemia and nodular lymphoid hyperplasia (NLH) of the bowel. Lymphocyte transformation, numbers of circulating T and B lymphocytes, and delayed hypersensitivity skin tests did not significantly differ when compared with hypogammaglobulinaemic patients without NLH. However, patients with NLH had higher jejunal juice IgM concentrations and a tendency to higher serum IgM concentrations than those without NLH. The morphological features of NLH are similar to the germinal centres of lymph nodes but more closely resemble the follicle zone of Peyer's patches. These findings suggest that NLH represents a local immune response to antigens originating in the gut lumen. Images Fig. 1 Fig. 2 Fig. 3(a)-3(b) Fig. 3(c) Fig. 4 Fig. 5 Fig. 6 PMID:873321

  2. Articular nodular fasciitis of the right shoulder joint: report of an unusual case with focus on immunohistochemical differential diagnosis.

    PubMed

    Tajima, Shogo; Zuki, Tomoyukisu; Koda, Kenji

    2015-01-01

    The mesenchymal lesion nodular fasciitis (NF) can affect various sites of the body but usually arises in subcutaneous tissue or occasionally skeletal muscle. NF is not commonly known to arise in joints, and articular NF is extremely rare. Herein, we present a case of a 54-year-old woman with articular NF. No sign of recurrence was observed after surgical piecemeal removal with a suspected positive surgical margin. In our case, a differential diagnosis of NF, desmoid-type fibromatosis, and low-grade myofibroblastic sarcoma was considered. Stromal hyalinization, a characteristic of articular NF, made the diagnosis somewhat difficult, although typical NF morphology was present. Immunohistochemical analysis of α-smooth muscle actin, desmin, β-catenin, and protein gene product 9.5 expression along with close morphological examination provided a reliable distinction.

  3. Functional imaging in periventricular nodular heterotopia with the use of FDG-PET and HMPAO-SPECT.

    PubMed

    Morioka, T; Nishio, S; Sasaki, M; Yoshida, T; Kuwabara, Y; Ohta, M; Fukui, M

    1999-01-01

    We analyzed the interictal [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FGD-PET) and single photon emission computed tomography with technetium-99m-hexamethyl-propyleneamine oxime (HMPAO-SPECT) in two epileptic patients with periventricular nodular heterotopia (PNH). In both cases, we found both the glucose metabolism and the perfusion of PNH to be almost identical to those of the normal cerebral cortex. The metabolic activity and perfusion in the heterotopic gray matter in a subependymal white matter area probably represent the glucose metabolism and perfusion of the abnormally located gray matter rather than a subclinical ictal phenomenon. FDG-PET and HMPAO-SPECT were thus found to be a useful complement to magnetic resonance imaging in the evaluation of PNH.

  4. FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.

    PubMed

    Kunishima, Shinji; Ito-Yamamura, Yoshimi; Hayakawa, Akira; Yamamoto, Toshimichi; Saito, Hidehiko

    2010-12-01

    Filamin A is encoded by the FLNA gene on chromosome Xq28 and functions in cross-linking actin filaments into orthogonal networks in the cortical cytoplasm. FLNA p.V528M was initially detected in a female autopsy case of X-linked bilateral periventricular nodular heterotopia (BPNH), a neuronal migration disorder characterized by subependymal nodules of gray matter. During our mutation analysis of FLNA in a boy with apparent X-linked thrombocytopenia, we detected the p.V528M variant. The patient, mother and sister, who were heterozygous for the substitution, did not have BPNH. We observed an allele frequency of 4.8% in healthy control Japanese, but did not observe the variant in Caucasian subjects. Hemizygous controls had a normal platelet count and size. We suggest that p.V528M is neither associated with BPNH nor with thrombocytopenia and giant platelets, and represents a functional polymorphism.

  5. Quantitative proteome analysis in benign thyroid nodular disease using the fluorescent ruthenium II tris(bathophenanthroline disulfonate) stain.

    PubMed

    Berger, K; Wissmann, D; Ihling, C; Kalkhof, S; Beck-Sickinger, A; Sinz, A; Paschke, R; Führer, D

    2004-11-30

    Thyroid tumorigenesis involves qualitative and quantitative changes in protein expression, which can be comprehensively studied by proteome analysis. However, one of the technical bottlenecks of proteomics remains a reliable, sensitive and inexpensive method for quantification of differentially expressed proteins. This is due to the limited linear range of most available protein stains, i.e. silver and Coomassie blue, and high costs of commercially available fluorescent stains. In this paper we describe our experience with a lab-made ruthenium based fluorescent stain (ruthenium II tris(bathophenanthroline disulfonate) (RuBPs)) to perform proteome analysis of nodular thyroid disease. We first compared the properties of RuBPs with two highly sensitive protein stains: (1) silver staining and (2) the commercially available fluorescent dye Sypro Ruby. We show that in addition to its highly sensitive staining capabilities similar to Sypro Ruby and silver (2 ng), RuBPs offers several advantages such as a broad dynamic range (similar to Sypro Ruby and 500 times broader than the dynamic range of silver stain), low costs ( 0.03 per gel) and excellent compatibility with mass spectrometry. We then applied the inexpensive RuBPs stain to 2D gels (pH 4-7) of four benign thyroid nodules and normal thyroid tissue. We were able to detect approximately 1800 protein spots/gel in our thyroid samples. Quantitative changes in protein expression levels of at least 20-42 proteins were noted in the benign nodules compared with the normal thyroid tissue of the same patient. Differentially expressed spots were further characterised by nano-LC-FTICR and MALDI-TOF mass spectrometry. In summary we demonstrate, that the novel fluorescent ruthenium II tris(bathophenanthroline disulfonate) stain is a highly sensitive, reliable and inexpensive tool for quantitative proteome analysis in thyroid nodular disease.

  6. 2-1/2-D electromagnetic modeling of nodular defects in high-power multilayer optical coatings

    SciTech Connect

    Molau, N.E.; Brand, H.R.; Kozlowski, M.R.; Shang, C.C.

    1996-07-01

    Advances in the design and production of high damage threshold optical coatings for use in mirrors and polarizers have been driven by the design requirements of high-power laser systems such as the proposed 1.8-MJ National Ignition Facility (NIF) and the prototype 12- kJ Beamlet laser system. The present design of the NIF will include 192 polarizers and more than 1100 mirrors. Currently, the material system of choice for high-power multilayer optical coatings with high damage threshold applications near 1.06 {mu}m are e-beam deposited HfO{sub 2}/Si0{sub 2} coatings. However, the optical performance and laser damage thresholds of these coatings are limited by micron-scale defects and insufficient control over layer thickness. In this report, we will discuss the results of our 2-1/2-D finite-element time- domain (FDTD) EM modeling effort for rotationally-symmetric nodular defects in multilayer dielectric HR coatings. We have added a new diagnostic to the 2-1/2-D FDTD EM code, AMOS, that enables us to calculate the peak steady-state electric fields throughout a 2-D planar region containing a 2-D r-z cross-section of the axisymmetric nodular defect and surrounding multilayer dielectric stack. We have also generated a series of design curves to identify the range of loss tangents for Si0{sub 2} and HfO{sub 2} consistent with the experimentally determined power loss of the HR coatings. In addition, we have developed several methods to provide coupling between the EM results and the thermal-mechanical simulation effort.

  7. Electronic brachytherapy for superficial and nodular basal cell carcinoma: a report of two prospective pilot trials using different doses

    PubMed Central

    Pons-Llanas, Olga; Candela-Juan, Cristian; Celada-Álvarez, Francisco Javier; Barker, Christopher A.; Tormo-Micó, Alejandro; Pérez-Calatayud, Jose; Botella-Estrada, Rafael

    2016-01-01

    Purpose Basal cell carcinoma (BCC) is a very common cancer in the Caucasian population. Treatment aims to eradicate the tumor with the lowest possible functional and aesthetic impact. Electronic brachytherapy (EBT) is a treatment technique currently emerging. This study aims to show the outcomes of two consecutive prospective pilot clinical trials using different radiation doses of EBT with Esteya® EB system for the treatment of superficial and nodular basal cell carcinoma. Material and methods Two prospective, single-center, non-randomized, pilot studies were conducted. Twenty patients were treated in each study with different doses. The first group (1) was treated with 36.6 Gy in 6 fractions of 6.1 Gy, and the second group (2) with 42 Gy in 6 fractions of 7 Gy. Cure rate, acute toxicity, and late toxicity related to cosmesis were analyzed in the two treatment groups. Results In group 1, a complete response in 90% of cases was observed at the first year of follow-up, whereas in group 2, the complete response was 95%. The differences with reference to acute toxicity and the cosmetic results between the two treatment groups were not statistically significant. Conclusions Our initial experience with Esteya® EB system to treat superficial and nodular BCC shows that a dose of 36.6 Gy and 42 Gy delivered in 6 fraction of 7 Gy achieves a 90% and 95% clinical cure rate at 1 year, respectively. Both groups had a tolerable toxicity and a very good cosmesis. The role of EBT in the treatment of BCC is still to be defined. It will probably become an established option for selected patients in the near future. PMID:26985197

  8. Tumor necrosis is associated with increased alphavbeta3 integrin expression and poor prognosis in nodular cutaneous melanomas

    PubMed Central

    Bachmann, Ingeborg M; Ladstein, Rita G; Straume, Oddbjørn; Naumov, George N; Akslen, Lars A

    2008-01-01

    Background Tumor necrosis and apoptotic activity are considered important in cancer progression, but these features have not been much studied in melanomas. Our hypothesis was that rapid growth in cutaneous melanomas of the vertical growth phase might lead to tissue hypoxia, alterations in apoptotic activity and tumor necrosis. We proposed that these tumor characteristics might be associated with changes in expression of cell adhesion proteins leading to increased invasive capacity and reduced patient survival. Methods A well characterized series of nodular melanoma (originally 202 cases) and other benign and malignant melanocytic tumors (109 cases) were examined for the presence of necrosis, apoptotic activity (TUNEL assay), immunohistochemical expression of hypoxia markers (HIF-1 α, CAIX, TNF-α, Apaf-1) and cell adhesion proteins (αvβ3 integrin, CD44/HCAM and osteopontin). We hypothesized that tumor hypoxia and necrosis might be associated with increased invasiveness in melanoma through alterations of tumor cell adhesion proteins. Results Necrosis was present in 29% of nodular melanomas and was associated with increased tumor thickness, tumor ulceration, vascular invasion, higher tumor proliferation and apoptotic index, increased expression of αvβ3 integrin and poor patient outcome by multivariate analysis. Tumor cell apoptosis did also correlate with reduced patient survival. Expression of TNF-α and Apaf-1 was significantly associated with tumor thickness, and osteopontin expression correlated with increased tumor cell proliferation (Ki-67). Conclusion Tumor necrosis and apoptotic activity are important features of melanoma progression and prognosis, at least partly through alterations in cell adhesion molecules such as increased αvβ3 integrin expression, revealing potentially important targets for new therapeutic approaches to be further explored. PMID:19061491

  9. Combination of microscopic model and VoF-multiphase approach for numerical simulation of nodular cast iron solidification

    NASA Astrophysics Data System (ADS)

    Subasic, E.; Huang, C.; Jakumeit, J.; Hediger, F.

    2015-06-01

    The ongoing increase in the size and capacity of state-of-the-art wind power plants is highlighting the need to reduce the weight of critical components, such as hubs, main shaft bearing housings, gear box housings and support bases. These components are manufactured as nodular iron castings (spheroid graphite iron, or SGI). A weight reduction of up to 20% is achievable by optimizing the geometry to minimize volume, thus enabling significant downsizing of wind power plants. One method for enhancing quality control in the production of thick-walled SGI castings, and thus reducing tolerances and, consequently, enabling castings of smaller volume is via a casting simulation of mould filling and solidification based on a combination of microscopic model and VoF-multiphase approach. Coupled fluid flow with heat transport and phase transformation kinetics during solidification is described by partial differential equations and solved using the finite volume method. The flow of multiple phases is described using a volume of fluid approach. Mass conservation equations are solved separately for both liquid and solid phases. At the micro-level, the diffusion-controlled growth model for grey iron eutectic grains by Wetterfall et al. is combined with a growth model for white iron eutectic grains. The micro-solidification model is coupled with macro-transport equations via source terms in the energy and continuity equations. As a first step the methodology was applied to a simple geometry to investigate the impact of mould-filling on the grey-to-white transition prediction in nodular cast iron.

  10. A qualitative study exploring the usability of Nintendo Wii Fit among persons with multiple sclerosis.

    PubMed

    Plow, Matthew; Finlayson, Marcia

    2014-03-01

    The purpose of this study was to examine the usability of Nintendo Wii Fit to promote physical activity in adults with multiple sclerosis. Qualitative interviews were conducted as part of a pilot study that examined the health outcomes of a 14-week Wii Fit home-exercise programme in 30 adults with multiple sclerosis. We found participants reported that Wii Fit helped build confidence in abilities, achieve goals related to engagement in leisure activities and remove barriers associated with going to a gym to exercise. However, Wii Fit induced initial reactions of intimidation and worries about falling, and feedback during game play reminded participants of their impairments. Wii Fit was limited in its customizability to accommodate different functional levels. Understanding how to improve the usability and customizability of commercially available exergaming technology could be of benefit to people with disabling conditions. Before conducting randomized controlled trials of commercially available exergaming technology in adults with disabling conditions, we recommend that strategies be identified to remove usability barriers so those with moderate impairments can be included in the trial. This will reduce the likelihood of ceiling effects and clinical irrelevance. In terms of clinical recommendations, rehabilitation professionals need to consider patients' functional level, surrounding environment and preferences when prescribing a Wii Fit-based exercise programme.

  11. A Qualitative Study of Interference with Communicative Participation across Communication Disorders in Adults

    ERIC Educational Resources Information Center

    Baylor, Carolyn; Burns, Michael; Eadie, Tanya; Britton, Deanna; Yorkston, Kathryn

    2011-01-01

    Purpose: To explore the similarities and differences in self-reported restrictions in communicative participation across different communication disorders in community-dwelling adults. Method: Interviews were conducted with 44 adults representing 7 different medical conditions: spasmodic dysphonia, multiple sclerosis, stroke, stuttering,…

  12. Influence of IQ in interpreting MMSE scores in patients with multiple sclerosis.

    PubMed

    Gontkovsky, Samuel T

    2014-01-01

    The Mini-Mental State Examination (MMSE) and Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) were administered to 46 outpatients diagnosed with multiple sclerosis (MS). MMSE total raw score was significantly and positively correlated with all WAIS-IV indexes, even when controlling for the effects of participant educational level, with the strongest relationship being with Full Scale IQ. These results suggest that clinicians consider patient intellectual functioning, in particular Full Scale IQ, when diagnosing neurocognitive impairment based on screening with the MMSE in individuals with MS.

  13. Epidemiology of amyotrophic lateral sclerosis.

    PubMed

    Kurtzke, J F

    1982-01-01

    Motor neuron disease (MND) is used in this paper as the generic label, encompassing the clinical variants of amyotrophic lateral sclerosis (ALS), progressive myelopathic muscular atrophy (PMMA), and progressive bulbar palsy (PBP). ALS is limited to instances of anterior horn cell plus pyramidal tract involvement. When only anterior horn cell lesions are inferred, either PMMA or PBP is used, depending on the levels of involvement; when both cord and brain stem are affected. PBP is the designation. Mortality data on MND have been available for a number of countries since 1949. The coding used under international rules has varied considerably over this interval. Before 1969, hereditary muscular atrophies were included. Since 1979, no subdivision by type of MND is possible. International death rates for MND have all been rather close to 1 per 100,000 population per year, though perhaps nearer to 1.4 on the average in recent years. There has been an increasing proportion of MND deaths coded to ALS between 1949 and 1977. There is no notable geographic variation among countries, nor within countries such as the U.S. and Denmark. A slight upward trend in death rates over time in the U.S. is matched by a slight decrease in Denmark. Death rates from all sources indicate a male preponderance for ALS or MND as a whole, at about 1.5 to 1, male to female. There is also a consistent predilection by age, with few deaths under age 50 or so and a clear maximum in age-specific death rates at about age 70. This holds for both sexes. In the U.S., there is also a white-nonwhite difference, with a ratio of about 1.6:1 but with age and sex differences similar to whites. Average annual incidence rates from among white occidental populations range mostly between 0.6 and 1.8 per 100,000 population for MND and about 0.8 and 1.5 per 100,000 for ALS. Again a male predilection is seen. There is a clear maximum in age-specific incidence rates at about age 65 in all surveys except that of

  14. Acute Optic Neuritis: Prognosis for the Development of Multiple Sclerosis.

    DTIC Science & Technology

    1979-12-01

    The literature was reviewed in regard to acute optic neuritis: prognosis for the development of multiple sclerosis , with specific reference to our...series, was preselected and not prospective, causing a higher incidence of later multiple sclerosis . The second factor was the definition of multiple ...development of multiple sclerosis in patients affected with acute optic neuritis. This finding leads us to conclude that an incidence of 13% to 17

  15. [Multiple sclerosis: etiology, epidemiology, some questions of pathogenicity].

    PubMed

    Chuprina, H M

    2012-01-01

    In the article the questions of ways of development of the dissipated sclerosis, as nosologies, are affected from the group of autoimmune diseases. Examined etiology, epidedemiologiya, separate links of pathogeny of the dissipated sclerosis. The analysis of multifaktors of his origin is conducted, with the detailed study of internal and external factors, marked on the important role of inherited predisposition, infectious and klimato-geograficheskogo factors in genesis of the dissipated sclerosis.

  16. Oral health management implications in patients with tuberous sclerosis.

    PubMed

    Cutando, A; Gil, J A; López, J

    2000-10-01

    We report 6 cases of patients with tuberous sclerosis and concomitant dental pathosis. The multiple manifestations in tuberous sclerosis determine its impact on dental therapy. A lack of awareness of this condition may compound the possible side effects of dental treatment. Possible preventive measures by dentists are highlighted in this presentation. Medical evaluation and the control of risk factors in relation to general anesthesia and sedation are key considerations for the management of patients with tuberous sclerosis.

  17. Telerehabilitation for persons with multiple sclerosis. A Cochrane review.

    PubMed

    Khan, F; Amatya, B; Kesselring, J; Galea, M P

    2015-06-01

    A wide range of telerehabilitation interventions are trialled in persons with multiple sclerosis (pwMS). However, the evidence for their effectiveness is unclear. Aim of the review was to systematically assess the effectiveness and safety of telerehabilitation intervention in pwMS, the types of approaches that are effective (setting, type, intensity) and the outcomes (impairment, activity limitation and participation) that are affected. The search strategy comprised: Cochrane Multiple Sclerosis and Rare Diseases of the Central Nervous System Review Group Specialised Register (up to 9 July, 2014). Relevant journals and reference lists of identified studies were screened for additional data. Selected studies included randomized and controlled clinical trials that compared telerehabilitation intervention/s in pwMS with a control intervention (such as lower level or different types of intervention, minimal intervention; waiting-list controls, no treatment or usual care; interventions given in different settings). Best evidence synthesis was based on methodological quality using the GRADEpro software. Nine RCTs (N.=531 participants, 469 included in analyses) investigated a variety of telerehabilitation interventions in adults with MS. The interventions evaluated were complex, with more than one rehabilitation component and included physical activity, educational, behavioural and symptom management programmes. All studies scored "low" on the methodological quality assessment. Evidence from included studies provides 'low-level' evidence for reduction in short-term disability (and symptoms) such as fatigue. There was also "low-level" evidence supporting telerehabilitation in the longer term for improved functional activities, impairments (such as fatigue, pain, insomnia); and participation. There were limited data on process evaluation (participants'/therapists' satisfaction) and no data available for cost effectiveness. There were no adverse events reported as a result of

  18. Peripheral blood lymphocyte phenotype and function in multiple sclerosis.

    PubMed Central

    Hughes, P J; Compston, D A

    1988-01-01

    T suppressor cell function and phenotype are abnormal in patients with multiple sclerosis, especially during the chronic progressive phase but the sub-populations defined by mitogen stimulation and serological methods may not be identical. In this study, involving 45 patients with multiple sclerosis and 33 controls, there was no correlation between T suppressor function and CD8 cell phenotype in patients with multiple sclerosis or in controls. These phenotypic and functional studies cannot therefore be used interchangeably in the assessment of patients with multiple sclerosis since they provide different information about lymphocyte subpopulations. PMID:2976082

  19. Tumefactive Demyelinating Lesions in Multiple Sclerosis and Associated Disorders.

    PubMed

    Frederick, Meredith C; Cameron, Michelle H

    2016-03-01

    Tumefactive demyelinating lesions are rare consequences of central nervous system (CNS) idiopathic inflammatory demyelinating diseases. Tumefactive demyelinating lesions pose a diagnostic challenge because they can mimic tumors and abscesses and because they can be caused by a heterogeneous range of disorders. This article reviews the recent literature on the clinical presentation; radiographic features; prognosis; and management of tumefactive demyelinating lesions in multiple sclerosis, acute demyelinating encephalomyelitis, neuromyelitis optica, and the rare variants of multiple sclerosis including Schilder's disease, Marburg acute multiple sclerosis, and Balo's concentric sclerosis.

  20. Esophageal transit scintigraphy in systemic sclerosis

    PubMed Central

    Kobylecka, Małgorzata; Olesińska, Marzena

    2016-01-01

    Systemic sclerosis is a rare connective tissue disease, distinctive features of which are fibrosis and microangiopathy. The esophagus is one of the most commonly involved internal organs. Most patients experience dysphagia, difficulties in swallowing and gastro-esophageal reflux. However, in up to one third of cases, the initial onset of esophageal disease may be clinically silent. There are several diagnostic modalities available for assessing both morphological and functional abnormalities of the esophagus. If structural abnormalities are suspected, endoscopy is the method of choice. Functional evaluation is best achieved with manometry. Both endoscopy and manometry are invasive techniques, with low patient acceptance. Barium-contrast study is well tolerated, but qualitative assessment of functional abnormalities is imprecise. Esophageal scintigraphy is an easy, non-invasive, sensitive and specific diagnostic modality. It can detect esophageal dysfunction even in asymptomatic patients. In patients already diagnosed with systemic sclerosis, scintigraphy is useful in evaluating severity and progression of the disease. PMID:27994270

  1. Esophageal transit scintigraphy in systemic sclerosis.

    PubMed

    Chojnowski, Marek; Kobylecka, Małgorzata; Olesińska, Marzena

    2016-01-01

    Systemic sclerosis is a rare connective tissue disease, distinctive features of which are fibrosis and microangiopathy. The esophagus is one of the most commonly involved internal organs. Most patients experience dysphagia, difficulties in swallowing and gastro-esophageal reflux. However, in up to one third of cases, the initial onset of esophageal disease may be clinically silent. There are several diagnostic modalities available for assessing both morphological and functional abnormalities of the esophagus. If structural abnormalities are suspected, endoscopy is the method of choice. Functional evaluation is best achieved with manometry. Both endoscopy and manometry are invasive techniques, with low patient acceptance. Barium-contrast study is well tolerated, but qualitative assessment of functional abnormalities is imprecise. Esophageal scintigraphy is an easy, non-invasive, sensitive and specific diagnostic modality. It can detect esophageal dysfunction even in asymptomatic patients. In patients already diagnosed with systemic sclerosis, scintigraphy is useful in evaluating severity and progression of the disease.

  2. [Potential pathogens in multiple sclerosis (MS)].

    PubMed

    Zawada, Mariola

    2012-10-22

     Multiple sclerosis is a neuroimmunological disease in which etiologic agents have not been identified yet. The etiology of MS is complex in its nature and may involve many different agents acting simultaneously or in a cascade manner leading to the development of the disease. The causes of MS development were sought among the factors associated with HLA and TCR genes and human endogenous retroviruses (HERV). Environmental factors such as bacterial, fungal and viral infections as well as potential participation of vitamin D in the pathogenesis of the disease have also been examined. The current state of knowledge concerning potential factors participating in the etiopathogenesis of multiple sclerosis has been reviewed in this paper.

  3. Teriflunomide in relapsing multiple sclerosis: therapeutic utility.

    PubMed

    Freedman, Mark S

    2013-09-01

    Teriflunomide is an oral, once-daily disease-modifying therapy (DMT) approved in the USA, Australia, and Argentina for the treatment of relapsing forms of multiple sclerosis (RMS). Teriflunomide reversibly limits the expansion of activated T and B cells associated with the inflammatory process purportedly involved in multiple sclerosis pathogenesis, while preserving lymphocytes for routine immune surveillance. In an extensive clinical development program, teriflunomide demonstrated consistent benefits on both clinical and magnetic resonance imaging outcomes. In long-term studies, teriflunomide treatment was associated with low rates of relapse and disability progression for up to 8 years. The safety profile of teriflunomide has been well characterized, with adverse events generally mild to moderate in nature and infrequently leading to permanent treatment discontinuation. The evidence reviewed here indicates that teriflunomide is an effective addition to the current DMTs used to treat RMS.

  4. Monoclonal Antibodies for Multiple Sclerosis Treatment.

    PubMed

    Palavra, Filipe

    2015-01-01

    Since their introduction in medical therapy, in the last quarter of the 20th century, monoclonal antibodies have gained an increasing importance in the treatment of various diseases. Neurology has been one of the medical specialties benefiting of the therapeutic potential of these monoclonal antibodies and certain neurological conditions may now contain such drugs in their therapeutic algorithms. Multiple sclerosis is one of these diseases and, in addition to the monoclonal antibodies already licensed for clinical use, several others are in development for future utilization in this specific area. The future will certainly pass through this kind of drugs and, in this article, a review of the most relevant data related to monoclonal antibodies already in use and also in clinical development for multiple sclerosis treatment will be performed.

  5. Recent advances in managing systemic sclerosis.

    PubMed

    Aringer, Martin; Erler, Anne

    2017-01-01

    How the main components in systemic sclerosis-namely autoimmunity, vasculopathy, and fibrosis-fit together is still not sufficiently clear. However, vascular treatment options are well established, the body of evidence for the efficacy of immunomodulatory approaches is increasing, and now at least one hopeful substance that may directly interfere with fibrosis is being tested. Although we still wait for important breakthroughs, there is grounds for hope that better therapeutic options will be available in the near future.

  6. Tuberous sclerosis complex; single center experience

    PubMed Central

    Erol, İlknur; Savaş, Tülin; Şekerci, Sevda; Yazıcı, Nalan; Erbay, Ayşe; Demir, Şenay; Saygı, Semra; Alkan, Özlem

    2015-01-01

    Aim: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Materials and Method: Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. Results: It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. Conclusions: It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of probable tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients. PMID:26078697

  7. Mining Gene Expression Data of Multiple Sclerosis

    PubMed Central

    Zhu, Zhenli; Huang, Zhengliang; Li, Ke

    2014-01-01

    Objectives Microarray produces a large amount of gene expression data, containing various biological implications. The challenge is to detect a panel of discriminative genes associated with disease. This study proposed a robust classification model for gene selection using gene expression data, and performed an analysis to identify disease-related genes using multiple sclerosis as an example. Materials and methods Gene expression profiles based on the transcriptome of peripheral blood mononuclear cells from a total of 44 samples from 26 multiple sclerosis patients and 18 individuals with other neurological diseases (control) were analyzed. Feature selection algorithms including Support Vector Machine based on Recursive Feature Elimination, Receiver Operating Characteristic Curve, and Boruta algorithms were jointly performed to select candidate genes associating with multiple sclerosis. Multiple classification models categorized samples into two different groups based on the identified genes. Models’ performance was evaluated using cross-validation methods, and an optimal classifier for gene selection was determined. Results An overlapping feature set was identified consisting of 8 genes that were differentially expressed between the two phenotype groups. The genes were significantly associated with the pathways of apoptosis and cytokine-cytokine receptor interaction. TNFSF10 was significantly associated with multiple sclerosis. A Support Vector Machine model was established based on the featured genes and gave a practical accuracy of ∼86%. This binary classification model also outperformed the other models in terms of Sensitivity, Specificity and F1 score. Conclusions The combined analytical framework integrating feature ranking algorithms and Support Vector Machine model could be used for selecting genes for other diseases. PMID:24932510

  8. Paroxysmal ataxia and dysarthria in multiple sclerosis.

    PubMed

    Iorio, R; Capone, F; Plantone, D; Batocchi, A P

    2014-01-01

    Paroxysmal ataxia and dysarthria are part of the spectrum of transient neurological disturbances that can be frequently encountered in multiple sclerosis (MS). Prompt recognition of these symptoms is important because they can be the only manifestation of a MS relapse and symptomatic therapy is often beneficial. We report a patient who developed paroxysmal ataxia and dysarthria, documented by video imaging, while he was recovering from a MS relapse. Treatment with carbamazepine resulted in the complete reversal of the paroxysmal ataxia and dysarthria.

  9. Defining Translational Reprogramming in Tuberous Sclerosis Complex

    DTIC Science & Technology

    2015-07-01

    programming. 2 2. KEYWORDS Tuberous sclerosis complex; mTORC1; rapamycin; mRNA; translation; ribosome; quality control; alternative translation 3...alternative TIS sites identified from human and mouse cell lines based on multiple GTI-Seq replicates. The TISdb, available at http...tisdb.human.cornell.edu, includes 6,991 TIS sites from 4,961 human genes and 9,973 TIS sites from 5,668 mouse genes. The TISdb website provides a simple browser

  10. Oxidative damage in multiple sclerosis lesions.

    PubMed

    Haider, Lukas; Fischer, Marie T; Frischer, Josa M; Bauer, Jan; Höftberger, Romana; Botond, Gergö; Esterbauer, Harald; Binder, Christoph J; Witztum, Joseph L; Lassmann, Hans

    2011-07-01

    Multiple sclerosis is a chronic inflammatory disease of the central nervous system, associated with demyelination and neurodegeneration. The mechanisms of tissue injury are currently poorly understood, but recent data suggest that mitochondrial injury may play an important role in this process. Since mitochondrial injury can be triggered by reactive oxygen and nitric oxide species, we analysed by immunocytochemistry the presence and cellular location of oxidized lipids and oxidized DNA in lesions and in normal-appearing white matter of 30 patients with multiple sclerosis and 24 control patients without neurological disease or brain lesions. As reported before in biochemical studies, oxidized lipids and DNA were highly enriched in active multiple sclerosis plaques, predominantly in areas that are defined as initial or 'prephagocytic' lesions. Oxidized DNA was mainly seen in oligodendrocyte nuclei, which in part showed signs of apoptosis. In addition, a small number of reactive astrocytes revealed nuclear expression of 8-hydroxy-d-guanosine. Similarly, lipid peroxidation-derived structures (malondialdehyde and oxidized phospholipid epitopes) were seen in the cytoplasm of oligodendrocytes and some astrocytes. In addition, oxidized phospholipids were massively accumulated in a fraction of axonal spheroids with disturbed fast axonal transport as well as in neurons within grey matter lesions. Neurons stained for oxidized phospholipids frequently revealed signs of degeneration with fragmentation of their dendritic processes. The extent of lipid and DNA oxidation correlated significantly with inflammation, determined by the number of CD3 positive T cells and human leucocyte antigen-D expressing macrophages and microglia in the lesions. Our data suggest profound oxidative injury of oligodendrocytes and neurons to be associated with active demyelination and axonal or neuronal injury in multiple sclerosis.

  11. Matrix Metalloproteinases, Synaptic Injury, and Multiple Sclerosis

    PubMed Central

    Szklarczyk, Arek; Conant, Katherine

    2010-01-01

    Multiple sclerosis (MS) is a disease of the central nervous system in which immune mediated damage to myelin is characteristic. For an overview of this condition and its pathophysiology, please refer to one of many excellent published reviews (Sorensen and Ransohoff, 1998; Weiner, 2009). To follow, is a discussion focused on the possibility that synaptic injury occurs in at least a subset of patients, and that matrix metalloproteinases (MMPs) play a role in such. PMID:21423441

  12. [Management of neuropathic bladder in multiple sclerosis].

    PubMed

    Pappalardo, A; Patti, F; Reggio, A

    2004-05-01

    It is estimated that almost 70% of patients affected by multiple sclerosis (MS) suffer from urinary symptoms, with devastant impact on Quality of Life (QoL). The major aims of management should be to ameliorate the patients quality of life and to prevent the frequent complications of bladder dysfunction such as infention and renal damage. Therapy can usually eliminate or reduce the symptoms of neuropathic bladder. In the following pages is discussed the complex management of urinary symptoms in MS patients.

  13. Evaluation and management of amyotrophic lateral sclerosis.

    PubMed

    Valadi, Nojan

    2015-06-01

    Motor neuron diseases can cause progressive impairment of voluntary muscles of movement, respiration, speech, and swallowing. This review discusses the most common motor neuron disease, amyotrophic lateral sclerosis (ALS). It reviews the evaluation, diagnosis, and management of ALS, and its epidemiology, pathophysiology, and management. A coordinated approach by the primary care physician and neurologist is necessary with a focus on treatment options, durable medical equipment needs, and end-of-life discussions.

  14. Origin of Fibrosing Cells in Systemic Sclerosis

    PubMed Central

    Ebmeier, Sarah; Horsley, Valerie

    2015-01-01

    Purpose of review Systemic sclerosis (SSc), an autoimmune disease of unknown origin, is characterized by progressive fibrosis that can affect all organs of the body. To date, there are no effective therapies for the disease. This paucity of treatment options is primarily due to limited understanding of the processes that initiate and promote fibrosis in general and a lack of animal models that specifically emulate the chronic nature of systemic sclerosis. Most models capitulate acute injury-induced fibrosis in specific organs. Regardless of the model however, a major outstanding question in the field is the cellular origin of fibrosing cells. Recent findings A multitude of origins have been proposed in a variety of tissues, including resident tissue stroma, fibrocytes, pericytes, adipocytes, epithelial cells, and endothelial cells. Developmentally derived fibroblast lineages have recently been elucidated with fibrosing potential in injury models. Increasing data supports the pericyte as a fibrosing cell origin in diverse fibrosis models and adipocytes have recently been proposed. Fibrocytes, epithelial cells, and endothelial cells have been examined, though data does not as strongly support these possible origins. Summary In this review, we discuss recent evidence arguing in favor of and against proposed origins of fibrosing cells in diverse models of fibrosis. We highlight outstanding controversies and propose how future research may elucidate how fibrosing cells arise and what processes can be targeted in order to treat systemic sclerosis. PMID:26352735

  15. [Esophageal involvement in progressive systemic sclerosis].

    PubMed

    Monastra Varrica, L; Doweck, J; Améndola, R; Farías, R; Schenone, L; Bori, J; Fiorini, A; Musi, A O; Corti, R E

    1994-01-01

    Systemic sclerosis is a collagen disease with high frequency of oesophageal affection, specially if we use manometry as an evaluation method that has a high rate of clinic complication in high rate of patients. The aim of the study was to evaluate the prevalence of the oesophageal affection through the clinical, radiological, endoscopical and manometrical studies and to compare the results with other authors. Between January 1978 and February 1993, we evaluated 101 patients with different clinical types of scleroderma 89 females and 12 males with ages between 16-83 (mean: 49, 19 years). In order to determine systemic sclerosis diagnosis following Masi Rodman criterion's we found from 101 cases 83 had dysphagia (82.2%) motor 66 (65%) organic 17 (34.7%) GER was seem in 41 cases (40.5%). According to Heitz's radiological classification: I: 26 patients (25%) II: 58 patients (52.4%) III: 19 patients (18.8%) IV: 17 patients (16.9%). In reference to Neschis manometric classification we found II 88 (76%) III 77 (76%) In accordance with endoscopical classification we found I: 16 (15.8%); II: 49 (48.5%); III: 19 (18.8%); IV: 17 (16.9%); Although this motor and organic oesophageal alterations have an evident diagnostic value, they have also been referred in another metabolic and collagen diseases but with lesser frequency than was found in the systemic sclerosis by us.

  16. Registers of multiple sclerosis in Denmark.

    PubMed

    Koch-Henriksen, N; Magyari, M; Laursen, B

    2015-01-01

    There are two nationwide population-based registers for multiple sclerosis (MS) in Denmark. The oldest register is The Danish Multiple Sclerosis Registry (DMSR), which is an epidemiological register for estimation of prevalence and incidence of MS and survival, and for identifying exposures earlier in life that may affect the risk of MS. This register has no systematic follow-up data except for survival. The DMSR has over the years published nationwide incidence- and prevalence data from Denmark and has been involved in a number of 'historical prospective' studies to elucidate the association between a number of different environmental exposures in the past and the subsequent risk of MS. Some of these studies have been able to exonerate suspected risk factors. The other register, the nationwide Danish Multiple Sclerosis Treatment Register, is a follow-up register for all patients who have received disease-modifying treatments since 1996. It has, in particular, contributed to the knowledge of the role of antibodies against the biological drugs used for the treatment of MS.

  17. [Structure of peripheral blood platelets surface in patients with amyotrophic lateral sclerosis and multiple sclerosis].

    PubMed

    Kiktenko, A I; Zlobina, G P; Brusov, O S; Zakharova, M N

    2005-01-01

    Using scanning electronic microscopy of peripheral blood platelets in 32 patients with amyotrophic lateral sclerosis (ALS) and 6 patients with multiple sclerosis (MS), platelets activation, emerging in pseudopodiums formation, aggregation and lysis, was found. Platelets activation was more pronounced in ALS than in MS. It was most markedly seen for quantitative evaluation of the above traits. The features of platelet activation found in the study support the evidence for considering ALS as a systemic disorder being characterized by a broad spectrum of alterations of biological processes.

  18. Genes and Environment in Multiple Sclerosis project: A platform to investigate multiple sclerosis risk.

    PubMed

    Xia, Zongqi; White, Charles C; Owen, Emily K; Von Korff, Alina; Clarkson, Sarah R; McCabe, Cristin A; Cimpean, Maria; Winn, Phoebe A; Hoesing, Ashley; Steele, Sonya U; Cortese, Irene C M; Chitnis, Tanuja; Weiner, Howard L; Reich, Daniel S; Chibnik, Lori B; De Jager, Philip L

    2016-02-01

    The Genes and Environment in Multiple Sclerosis project establishes a platform to investigate the events leading to multiple sclerosis (MS) in at-risk individuals. It has recruited 2,632 first-degree relatives from across the USA. Using an integrated genetic and environmental risk score, we identified subjects with twice the MS risk when compared to the average family member, and we report an initial incidence rate in these subjects that is 30 times greater than that of sporadic MS. We discuss the feasibility of large-scale studies of asymptomatic at-risk subjects that leverage modern tools of subject recruitment to execute collaborative projects.

  19. An overview of assistive technology for persons with multiple sclerosis.

    PubMed

    Blake, Donna Jo; Bodine, Cathy

    2002-01-01

    Multiple sclerosis (MS) is a progressive neurologic disease clinically characterized by episodes of focal disorder of the cranial nerves, spinal cord, and the brain. MS affects a significant number of young adults, and they most often face a future of progressive functional losses as more of their central nervous system and cranial nerves are affected. As the disease progresses, they have new impairments with accompanying limitations in activities, restrictions to their participation in life, and compromised quality of life. Assistive technology includes any item that is used to maintain or improve functional capabilities. The rehabilitation healthcare provider has many opportunities to intervene with assistive technologies to decrease activity limitations and participation restrictions. The purpose of this article is to (1) review the impairments and associated activity limitations and participations restrictions experienced by persons with MS, (2) provide an overview of high- and low-tech assistive technologies appropriate for persons with MS, (3) discuss funding opportunities for assistive technologies, (4) review current studies of assistive technology used for persons with MS and discuss future research directions, and (5) consider assistive technology as an intervention for disability prevention.

  20. Hallucinations and reversed cerebral dominance in mesial temporal sclerosis.

    PubMed

    Singh, Rani K; Glynn, Simon M; Garton, Hugh J; Shellhaas, Renée A

    2011-08-01

    The localizing value of experiential phenomena in temporal and occipital lobe epilepsy has become increasingly elucidated. We describe complex visual and auditory hallucinations in a right-handed adolescent and review the localization value of ictal visual and auditory auras in partial epilepsy. A 15-year-old right-handed girl with 2 previous secondarily generalized seizures manifested a new semiology of complex visual and auditory hallucinations, characterized by seeing a school bus full of children and then hearing a male voice tell her to "feed the children." Feeling compelled, she "fed" the children, and they reboarded the bus and the bus drove away. Video electroencephalogram monitoring demonstrated fluent language during her seizures. Magnetic resonance imaging was compatible with left mesial temporal sclerosis. Fluorodeoxyglucose positron emission tomography demonstrated left temporal hypometabolism. An ictal single-photon emission computed tomography study demonstrated left anterior temporal hyperperfusion; Wada testing revealed reversed cerebral dominance. The patient underwent left anterior temporal lobectomy without complication and remains seizure-free. Complex auditory and visual hallucinations can occur in occipitotemporal and anteromedial temporal epilepsy. Reversed cerebral dominance is more common in children than adults and should be considered in any dextral person with fluent ictal speech with a left-sided epileptogenic lesion.

  1. Therapeutic challenges for systemic sclerosis: facts and future targets.

    PubMed

    Cerinic Matucci, M; Del Rosso, Angela; Federico, Perfetto; Livi, Riccardo; Fiori, Ginevra; Bartoli, Francesca; Blagojevic, Jelena; Tempestini, Alessio; Pignone, Alberto

    2007-09-01

    Pulmonary arterial hypertension (PAH) is an important cause of death in systemic sclerosis (SSc), despite the improvement of therapies. An early diagnosis and the use of drugs interfering with the main pathogenic pathways of PAH is pivotal for the improvement of prognosis in primary PAH and PAH secondary to autoimmune rheumatic diseases, mainly SSc. Lately, new specific therapies have been developed targeting prostacyclin, endothelin, and nitric oxide pathways, the major pathogenic pathways leading to endothelial dysfunction in PAH. Epoprostenol improved life expectancy of patients with primary and secondary PAH, but its continuous intravenous administration requires experienced centers. More stable analogues of prostacyclin, administrated by intravenous (iloprost, treprostinil), subcutaneous, inhalatory (treprostinil, iloprost), and oral route (Beraprost) have shown efficacy in PAH. Bosentan, the first oral endothelin receptor antagonist (with affinity for endothelin A and B receptors) improves exercise function and survival in PAH, both primary and secondary to autoimmune rheumatic diseases. This is confirmed also for Sitaxsentan and Ambrisentan, selective A receptor antagonists. Because of its short half-life and systemic side effects, short-term NO inhalation is used only in short-term management of PAH in critically ill adults. Inhibitors of NO degradation, such as sildenafil, a phosphodiesterase (PDE) type 5 inhibitor, improved functional and hemodynamic parameters without significant side effects. Vardenafil and taladafil, longer-acting PDE inhibitors, also have vascular pulmonary selectivity. All these drugs may be used in combination, to maximize their clinical benefit not only in patients unresponsive to single drugs, but also potentially as initial therapy of PAH.

  2. The Role of Skeletal Muscle in Amyotrophic Lateral Sclerosis.

    PubMed

    Loeffler, Jean-Philippe; Picchiarelli, Gina; Dupuis, Luc; Gonzalez De Aguilar, Jose-Luis

    2016-03-01

    Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset disease primarily characterized by upper and lower motor neuron degeneration, muscle wasting and paralysis. It is increasingly accepted that the pathological process leading to ALS is the result of multiple disease mechanisms that operate within motor neurons and other cell types both inside and outside the central nervous system. The implication of skeletal muscle has been the subject of a number of studies conducted on patients and related animal models. In this review, we describe the features of ALS muscle pathology and discuss on the contribution of muscle to the pathological process. We also give an overview of the therapeutic strategies proposed to alleviate muscle pathology or to deliver curative agents to motor neurons. ALS muscle mainly suffers from oxidative stress, mitochondrial dysfunction and bioenergetic disturbances. However, the way by which the disease affects different types of myofibers depends on their contractile and metabolic features. Although the implication of muscle in nourishing the degenerative process is still debated, there is compelling evidence suggesting that it may play a critical role. Detailed understanding of the muscle pathology in ALS could, therefore, lead to the identification of new therapeutic targets.

  3. Dendritic Cells and Multiple Sclerosis: Disease, Tolerance and Therapy

    PubMed Central

    Mohammad, Mohammad G.; Hassanpour, Masoud; Tsai, Vicky W. W.; Li, Hui; Ruitenberg, Marc J.; Booth, David R.; Serrats, Jordi; Hart, Prue H.; Symonds, Geoffrey P.; Sawchenko, Paul E.; Breit, Samuel N.; Brown, David A.

    2013-01-01

    Multiple sclerosis (MS) is a devastating neurological disease that predominantly affects young adults resulting in severe personal and economic impact. The majority of therapies for this disease were developed in, or are beneficial in experimental autoimmune encephalomyelitis (EAE), the animal model of MS. While known to target adaptive anti-CNS immune responses, they also target, the innate immune arm. This mini-review focuses on the role of dendritic cells (DCs), the professional antigen presenting cells of the innate immune system. The evidence for a role for DCs in the appropriate regulation of anti-CNS autoimmune responses and their role in MS disease susceptibility and possible therapeutic utility are discussed. Additionally, the current controversy regarding the evidence for the presence of functional DCs in the normal CNS is reviewed. Furthermore, the role of CNS DCs and potential routes of their intercourse between the CNS and cervical lymph nodes are considered. Finally, the future role that this nexus between the CNS and the cervical lymph nodes might play in site directed molecular and cellular therapy for MS is outlined. PMID:23271370

  4. Bone morphogenetic proteins in multiple sclerosis: Role in neuroinflammation.

    PubMed

    Eixarch, Herena; Calvo-Barreiro, Laura; Montalban, Xavier; Espejo, Carmen

    2017-02-27

    Bone morphogenetic proteins (BMPs) are growth factors that represent the largest subgroup of signalling ligands of the transforming growth factor beta (TGF-β) superfamily. Their participation in the proliferation, survival and cell fate of several cell types and their involvement in many pathological conditions are now well known. BMP expression is altered in multiple sclerosis (MS) patients, suggesting that BMPs have a role in the pathogenesis of this disease. MS is a demyelinating and neurodegenerative autoimmune disorder of the central nervous system (CNS). MS is a complex pathological condition in which genetic, epigenetic and environmental factors converge, although its aetiology remains elusive. Multifunctional molecules, such as BMPs, are extremely interesting in the field of MS because they are involved in the regulation of several adult tissues, including the CNS and the immune system. In this review, we discuss the extensive data available regarding the role of BMP signalling in neuronal progenitor/stem cell fate and focus on the participation and expression of BMPs in CNS demyelination. Additionally, we provide an overview of the involvement of BMPs as modulators of the immune system, as this subject has not been thoroughly explored even though it is of great interest in autoimmune disorders. Moreover, we describe the data on BMP signalling in autoimmunity and inflammatory diseases, including MS and its experimental models. Thus, we aim to provide an integrated view of the putative role of BMPs in MS pathogenesis and to open the field for the further development of alternative therapeutic strategies for MS patients.

  5. [Multiple sclerosis: socioeconomic effects and impact on quality of life].

    PubMed

    Ayuso, Guillermo Izquierdo

    2014-12-01

    Multiple sclerosis (MS) is a disease of the central nervous system (CNS) that affects young adults. Survival is long, more than 35 years, and consequently the disease has a huge socioeconomic impact. The present article discusses the enormous difficulties of carrying out economic assessments in this field but also describes the advances made in research on this topic and the advantages of performing socioeconomic evaluations with increasingly sophisticated tools. We also discuss the need to quantify indirect and intangible costs to translate them into quality of life and subsequently into economic cost, expressed in euros in the case of Spain. The available data indicate that the enormous cost of the disease (1200 million euros per year) is due more to disability-related expenditure than to treatment, which-although expensive-does not represent more than 16-18% of the total expenditure (approximately 200 million euros per year). The increase represented by the cost of MS is not based on higher treatment expenditure but on an increase in the incidence and-especially-the prevalence of the disease. Above all, in the last few years, there has been a considerable rise in the percentage of patients with an indication for treatment. Reflection is therefore needed on the use of drug therapy in MS, since a saving in the most effective products seems to increase the overall cost of MS, while expenditure on these drugs represents a saving in the long-term.

  6. Challenges in the management of a case of tuberous sclerosis

    PubMed Central

    Rathi, Anubhav; Bhatia, Manjeet Singh; Jhanjee, Anurag

    2012-01-01

    Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina. We hereby report therapeutic challenges faced in a case of an adolescent male suffering from tuberous sclerosis. PMID:24250049

  7. Disconnection as a Mechanism for Cognitive Dysfunction in Multiple Sclerosis

    ERIC Educational Resources Information Center

    Dineen, R. A.; Vilisaar, J.; Hlinka, J.; Bradshaw, C. M.; Morgan, P. S.; Constantinescu, C. S.; Auer, D. P.

    2009-01-01

    Disconnection of cognitively important processing regions by injury to the interconnecting white matter provides a potential mechanism for cognitive dysfunction in multiple sclerosis. The contribution of tract-specific white matter injury to dysfunction in different cognitive domains in patients with multiple sclerosis has not previously been…

  8. Endogenous Task Shift Processes in Relapsing-Remitting Multiple Sclerosis

    ERIC Educational Resources Information Center

    Stablum, F.; Meligrana, L.; Sgaramella, T.; Bortolon, F.; Toso, V.

    2004-01-01

    This paper reports a study that was aimed to evaluate executive functions in relapsing-remitting multiple sclerosis patients. The groups tested comprised 22 relapsing-remitting multiple sclerosis patients, and 22 non-brain damaged controls. When one is engaged in two speeded tasks, not simultaneously but with some form of alternation, it is slower…

  9. Clustering of multiple sclerosis in Galion, Ohio, 1982-1985

    SciTech Connect

    Ingalls, T.H. )

    1989-09-01

    Epidemiologic evidence indicates that the outbreak of 30-40 cases of multiple sclerosis and other demyelinating syndromes in Galion, Ohio, USA, during 1982-1985 was related to an excess concentration of heavy-metal wastes, especially of cadmium and chromium in sewage and river water. Both multiple sclerosis and myasthenia gravis were diagnosed by board-certified neurologists.

  10. Pulmonary Arterial Hypertension-A Deadly Complication of Systemic Sclerosis

    PubMed Central

    Pankey, Edward A; Epps, Matthew; Nossaman, Bobby D; Hyman, Albert L; Kadowitz, Philip J

    2011-01-01

    Pulmonary arterial hypertension (PAH) is a devastating disease with limited therapeutic options. Moreover, when PAH occurs in patients diagnosed with systemic sclerosis, worse outcomes are observed. The purpose of this review is to discuss the etiologies of PAH found in the systemic sclerosis patient, limitations of current medical therapies, and, finally, potential therapies for patients with this combination. PMID:23626904

  11. Determining Changes in Neural Circuits in Tuberous Sclerosis

    DTIC Science & Technology

    2012-05-01

    accepted models of obsessive compulsive disorder and autism , in which the corticostriatal circuit is disrupted, do not have seizures. Our mouse model lacks...mutant mice. Importantly, the early deletion of Tsc1 in the thalamus mimicked salient features of human Tuberous Sclerosis including mosaicism, autism ...neuroanatomy, Mouse model of Tuberous Sclerosis, Spatially and temporally controlled mosaicism 16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF

  12. Use of 3-Dimensional Volumetric Modeling of Adrenal Gland Size in Patients with Primary Pigmented Nodular Adrenocortical Disease.

    PubMed

    Chrysostomou, P P; Lodish, M B; Turkbey, E B; Papadakis, G Z; Stratakis, C A

    2016-04-01

    Primary pigmented nodular adrenocortical disease (PPNAD) is a rare type of bilateral adrenal hyperplasia leading to hypercortisolemia. Adrenal nodularity is often appreciable with computed tomography (CT); however, accurate radiologic characterization of adrenal size in PPNAD has not been studied well. We used 3-dimensional (3D) volumetric analysis to characterize and compare adrenal size in PPNAD patients, with and without Cushing's syndrome (CS). Patients diagnosed with PPNAD and their family members with known mutations in PRKAR1A were screened. CT scans were used to create 3D models of each adrenal. Criteria for biochemical diagnosis of CS included loss of diurnal variation and/or elevated midnight cortisol levels, and paradoxical increase in urinary free cortisol and/or urinary 17-hydroxysteroids after dexamethasone administration. Forty-five patients with PPNAD (24 females, 27.8±17.6 years) and 8 controls (19±3 years) were evaluated. 3D volumetric modeling of adrenal glands was performed in all. Thirty-eight patients out of 45 (84.4%) had CS. Their mean adrenal volume was 8.1 cc±4.1, 7.2 cc±4.5 (p=0.643) for non-CS, and 8.0cc±1.6 for controls. Mean values were corrected for body surface area; 4.7 cc/kg/m(2)±2.2 for CS, and 3.9 cc/kg/m(2)±1.3 for non-CS (p=0.189). Adrenal volume and midnight cortisol in both groups was positively correlated, r=0.35, p=0.03. We conclude that adrenal volume measured by 3D CT in patients with PPNAD and CS was similar to those without CS, confirming empirical CT imaging-based observations. However, the association between adrenal volume and midnight cortisol levels may be used as a marker of who among patients with PPNAD may develop CS, something that routine CT cannot do.

  13. [Current aspects of therapy conversion for multiple sclerosis].

    PubMed

    Kolber, P; Luessi, F; Meuth, S G; Klotz, L; Korn, T; Trebst, C; Tackenberg, B; Kieseier, B; Kümpfel, T; Fleischer, V; Tumani, H; Wildemann, B; Lang, M; Flachenecker, P; Meier, U; Brück, W; Limmroth, V; Haghikia, A; Hartung, H-P; Stangel, M; Hohlfeld, R; Hemmer, B; Gold, R; Wiendl, H; Zipp, F

    2015-10-01

    In recent years the approval of new substances has led to a substantial increase in the number of course-modifying immunotherapies available for multiple sclerosis. Therapy conversion therefore represents an increasing challenge. The treatment options sometimes show complex adverse effect profiles and necessitate a long-term and comprehensive monitoring. This article presents an overview of therapy conversion of immunotherapies for multiple sclerosis in accordance with the recommendations of the Disease-Related Competence Network for Multiple Sclerosis and the German Multiple Sclerosis Society as well as the guidelines on diagnostics and therapy for multiple sclerosis of the German Society of Neurology and the latest research results. At the present point in time it should be noted that no studies have been carried out for most of the approaches for therapy conversion given here; however, the recommendations are based on theoretical considerations and therefore correspond to recommendations at the level of expert consensus, which is currently essential for the clinical daily routine.

  14. High-fat and ketogenic diets in amyotrophic lateral sclerosis.

    PubMed

    Paganoni, Sabrina; Wills, Anne-Marie

    2013-08-01

    Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. Epidemiologic data suggest that malnutrition is a common feature in amyotrophic lateral sclerosis and being overweight or obese confers a survival advantage in this patient population. In amyotrophic lateral sclerosis mouse models, a high-fat diet has been shown to lead to weight gain and prolonged survival. However, little research has been conducted to test whether nutritional interventions might ameliorate the disease course in humans. Here we review the currently available evidence supporting the potential role of dietary interventions as a therapeutic tool for amyotrophic lateral sclerosis. Ultimately, determining whether a high-fat or ketogenic diet could be beneficial in amyotrophic lateral sclerosis will require large randomized, placebo-controlled clinical trials.

  15. Diagnosis and Management of Systemic Sclerosis: A Practical Approach.

    PubMed

    Lee, Jason J; Pope, Janet E

    2016-02-01

    Systemic sclerosis is a devastating multisystem rheumatologic condition that is characterized by autoimmunity, tissue fibrosis, obliterative vasculopathy and inflammation. Clinical presentation and course of the condition vary greatly, which complicates both diagnosis and corresponding treatment. In this regard, recent advances in disease understanding, both clinically and biochemically, have led to newer classification criteria for systemic sclerosis that are more inclusive than ever before. Still, significant disease modifying therapies do not yet exist for most patients. Therefore, organ-based management strategies are employed and research has been directed within this paradigm focusing on either the most debilitating symptoms, such as Raynaud's phenomenon, digital ulcers and cutaneous sclerosis, or life-threatening organ involvement such as interstitial lung disease and pulmonary arterial hypertension. The current trends in systemic sclerosis diagnosis, evidence-based treatment recommendations and potential future directions in systemic sclerosis treatment are discussed.

  16. Understanding Drivers of Employment Changes in a Multiple Sclerosis Population

    PubMed Central

    Boscoe, Audra N.; Currie, Brooke M.; Landrian, Amanda S.; Wandstrat, Todd L.

    2015-01-01

    Background: Qualitative data are lacking on decision making and factors surrounding changes in employment for patients with multiple sclerosis (MS). This study aimed to increase our understanding of the key symptoms and factors leading patients with MS to leave work or reduce employment. Methods: Adults with MS who reported leaving the workforce, reducing work hours, or changing jobs due to MS in the past 6 months were recruited from four US clinical sites. Patients participated in semistructured interviews to discuss MS symptoms and reasons for changing employment status. All interviews were transcribed and coded for descriptive analyses. Results: Twenty-seven adults (mean age = 46.3 years, mean duration of MS diagnosis = 10.9 years) with a range of occupations participated; most were white (81.5%) and female (70.4%). Physical symptoms (eg, fatigue, visual deficits) (77.8%) were the most common reasons for employment change; 40.7% of patients reported at least one cognitive symptom (eg, memory loss). Fatigue emerged as the most pervasive symptom and affected physical and mental aspects of patients' jobs. Most patients (85.2%) reported at least two symptoms as drivers for change. Some patients reported a significant negative impact of loss of employment on their mental status, family life, and financial stability. Conclusions: Fatigue was the most common symptom associated with the decision to leave work or reduce employment and can lead to a worsening of other MS symptoms. Comprehensive symptom management, especially fatigue management, may help patients preserve their employment status. PMID:26472946

  17. Influence of neurosteroids on the pathogenesis of multiple sclerosis.

    PubMed

    Leitner, Helmut

    2010-08-01

    This paper summarizes neuroendocrine effects on myelination and their possible relevance for the pathogenesis of multiple sclerosis (MS). Steroid hormones known as neurosteroids are synthesized in the human central nervous system (CNS) and exert local effects on glial and neuronal tissue. Progesterone derivatives seem to act as promyelinating factors in the slow but continuous process of myelin maintenance in the adult human brain. Diminished production of these myelin-promoting factors may lead to the formation of structurally altered and less stable myelin, resulting in the observed pathology of the normal-appearing white matter (NAWM) in MS. Dysmyelination, characterized by an altered myelin protein composition, reduced myelin content and increased vulnerability of the myelin sheath, precedes the formation of inflammatory lesions and the clinical onset of disease. Defects in the myelin sheath first occur in mechanically strained areas of the brain, where myelin turnover is physiologically increased. The continuous exposure of myelin proteins, normally sheltered from immunosurveillance, will lead to microglia activation and phagocytosis of myelin. Phagocytic cells from the brain and myelin material may drain to cervical lymph nodes with subsequent priming of T-cells. Finally, heterogenous focal auto-inflammatory reactions contribute to the clinical symptoms of the disease. Neurosteroids influence the biochemical composition of myelin proteins and promote myelin renewal. These promyelinating neurosteroidal functions seem to be impaired in the MS brain. Contrary to the view of auto-inflammatory demyelination being a causative factor in MS pathogenesis, it is argued here that widespread dysmyelination in the adult human brain precedes and induces a focal immune response to various myelin compounds.

  18. Oral doxycycline, niacinamide and prednisolone used to treat bilateral nodular granulomatous conjunctivitis of the third eyelid in an Australian Kelpie dog.

    PubMed

    Hurn, Simon; Mc Cowan, Christina; Turner, Andrew

    2005-01-01

    A 5-year-old, female neutered, Australian Kelpie presented with a 2-month history of dramatic bilateral erythematous thickening of the third eyelids. Ophthalmic examination demonstrated raised, pink to red, irregular thickening of the entire palpebral surface of both third eyelids. There were no other ocular abnormalities. A surgical biopsy was taken from each third eyelid. Histopathologic examination revealed sheets of macrophages, plasma cells, lymphocytes, and occasional fibroblasts and neutrophils infiltrating the third eyelid stroma. A diagnosis of chronic granulomatous conjunctivitis was made. Grossly and histopathologically this case closely resembles previously described cases of nodular granulomatous conjunctivitis involving the third eyelids of Collie dogs. This report describes an unusual case of nodular granulomatous conjunctivitis isolated to the third eyelids in an Australian Kelpie. Resolution of the condition was achieved with a combination of oral doxycycline, niacinamide and prednisolone.

  19. Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies.

    PubMed Central

    Morrissey, S P; Borruat, F X; Miller, D H; Moseley, I F; Sweeney, M G; Govan, G G; Kelly, M A; Francis, D A; Harding, A E; McDonald, W I

    1995-01-01

    To elucidate the cause(s) of acute or subacute bilateral simultaneous optic neuropathy (BSON) in adult life, a follow up study of 23 patients was performed with clinical assessment, brain MRI, HLA typing, and mitochondrial DNA analysis. The results of CSF electrophoresis were available from previous investigations in 11 patients. At follow up, five (22%) had developed clinically definite multiple sclerosis, four (17%) had mitochondrial DNA point mutations indicating a diagnosis of Leber's hereditary optic neuropathy (LHON). The remaining 14 patients (61%) still had clinically isolated BSON a mean of 50 months after the onset of visual symptoms: three of 14 (21%) had multiple MRI white matter lesions compatible with multiple sclerosis, three of 14 (21%) had the multiple sclerosis associated HLA-DR15/DQw6 haplotype, and one of seven tested had CSF oligoclonal IgG bands; in total only five (36%) had one or more of these risk factors. The low frequency of risk factors for the development of multiple sclerosis in these 14 patients suggests that few will develop multiple sclerosis with more prolonged follow up. It is concluded that: (a) about 20% of cases of BSON without affected relatives are due to LHON; (b) multiple sclerosis develops after BSON in at least 20% of cases, but the long term conversion rate is likely to be considerably less than the rate of over 70% seen after an episode of acute unilateral optic neuritis in adult life. PMID:7823072

  20. Amyotrophic Lateral Sclerosis 2-Deficiency Leads to Neuronal Degeneration in Amyotrophic Lateral Sclerosis through Altered AMPA Receptor Trafficking

    PubMed Central

    Lai, Chen; Xie, Chengsong; McCormack, Stefanie G.; Chiang, Hsueh-Cheng; Michalak, Marta K.; Lin, Xian; Chandran, Jayanth; Shim, Hoon; Shimoji, Mika; Cookson, Mark R.; Huganir, Richard L.; Rothstein, Jeffrey D.; Price, Donald L.; Wong, Philip C.; Martin, Lee J.; Zhu, J. Julius; Cai, Huaibin

    2008-01-01

    Amyotrophic lateral sclerosis (ALS), the most common adult-onset motor neuron disease is caused by a selective loss of motor neurons. One form of juvenile onset autosomal recessive ALS (ALS2) has been linked to the loss of function of the ALS2 gene. The pathogenic mechanism of ALS2-deficiency, however, remains unclear. To further understand the function of alsin that is encoded by the full-length ALS2 gene, we screened proteins interacting with alsin. Here, we report that alsin interacted with glutamate receptor interacting protein 1 (GRIP1) both in vitro and in vivo, and colocalized with GRIP1 in neurons. In support of the physiological interaction between alsin and GRIP1, the subcellular distribution of GRIP1 was altered in ALS2-/- spinal motor neurons, which correlates with a significant reduction of AMPA-type glutamate receptor subunit 2 (GluR2) at the synaptic/cell surface of ALS2-/- neurons. The decrease of calcium-impermeable GluR2-containing AMPA receptors at the cell/synaptic surface rendered ALS2-/- neurons more susceptible to glutamate receptor-mediated neurotoxicity. Our findings reveal a novel function of alsin in AMPA receptor trafficking and provide a novel pathogenic link between ALS2-deficiency and motor neuron degeneration, suggesting a protective role of alsin in maintaining the survival of motor neurons. PMID:17093100

  1. Successful treatment with bosentan for pulmonary hypertension and reduced peripheral circulation in juvenile systemic sclerosis.

    PubMed

    Shimizu, Masaki; Hashida, Yoko; Ueno, Kazuyuki; Yokoyama, Tadafumi; Nakayama, Yuko; Saito, Takekatsu; Ohta, Kunio; Takehara, Kazuhiko; Yachie, Akihiro

    2011-10-01

    Pulmonary arterial hypertension (PAH) when associated with systemic sclerosis (SSc) (SSc-PAH) is one of the leading causes of mortality and is found in 10-15% of adult patients with SSc. The ET receptor antagonist bosentan has been shown to be effective in the treatment of adult patients with SSc-PAH. Furthermore, it has been shown that bosentan ameliorates decreased skin perfusion and digital ulceration secondary to SSc. However, the effectiveness and safety of bosentan for treatment of juvenile SSc still remains unclear. We describe a case of juvenile SSc-PAH successfully treated with bosentan. The present case shows that bosentan ameliorated PAH and peripheral circulation as evaluated by cold stress thermography. No bosentan-related adverse events such as liver dysfunction were observed. Prospective randomized trials are required to validate the effectiveness of bosentan for patients with juvenile SSc; however, bosentan might be useful for the management of patients with juvenile SSc.

  2. Therapeutic Approach to the Management of Pediatric Demyelinating Disease: Multiple Sclerosis and Acute Disseminated Encephalomyelitis.

    PubMed

    Brenton, J Nicholas; Banwell, Brenda L

    2016-01-01

    Acquired pediatric demyelinating diseases manifest acutely with optic neuritis, transverse myelitis, acute disseminated encephalomyelitis, or with various other acute deficits in focal or polyfocal areas of the central nervous system. Patients may experience a monophasic illness (as in the case of acute disseminated encephalomyelitis) or one that may manifest as a chronic, relapsing disease [e.g., multiple sclerosis (MS)]. The diagnosis of pediatric MS and other demyelinating disorders of childhood has been facilitated by consensus statements regarding diagnostic definitions. Treatment of pediatric MS has been modeled after data obtained from clinical trials in adult-onset MS. There are now an increasing number of new therapeutic agents for MS, and many will be formally studied for use in pediatric patients. There are important efficacy and safety concerns regarding the use of these therapies in children and young adults. This review will discuss acute management as well as chronic immunotherapies in acquired pediatric demyelination.

  3. Klüver-Bucy syndrome after unilateral frontotemporal resection in a child with tuberous sclerosis.

    PubMed

    Boronat, Susana; Newberry, Peter; Mehan, William; Thiele, Elizabeth Anne; Duhaime, Ann-Christine

    2013-08-01

    Klüver-Bucy syndrome (KBS) is a behavioral phenotype that appears most often after bilateral temporal damage. The main features of KBS are compulsion to examine objects orally, increased sexual activity, placidity, hypermetamorphosis (irresistible impulse to notice and react to everything within sight), visual agnosia, and problems with memory. It is more rarely reported in children than in adults. We present a case of KBS in a 2-year-old boy with tuberous sclerosis complex (TSC) after left frontotemporal resection for refractory epilepsy. This is the first KBS after unilateral temporal resection in a child, although it has already been reported in two adult cases. It also is the first case reported in a TSC patient.

  4. Hepatic nodular lymphoid lesion with increased IgG4-positive plasma cells associated with primary biliary cirrhosis: a report of two cases.

    PubMed

    Calvo, Jessica; Carbonell, Nicolas; Scatton, Olivier; Marzac, Christophe; Ganne-Carrie, Nathalie; Wendum, Dominique

    2015-11-01

    The nodular lymphoid lesion of the liver known as reactive lymphoid hyperplasia or pseudolymphoma is rare and its pathogenesis is unknown. We report two cases of nodular lymphoid lesions of the liver with numerous IgG4-positive plasma cells in patients with primary biliary cirrhosis. Histologically, in both cases, the lesion showed a dense lymphoplasmacytic infiltrate with lymphoid follicles and granulomas. Fibrous tissue was scarce and without a storiform pattern. Obliterative phlebitis was not identified. The IgG4+ plasma cell counts were 82 and 76 per high power field, with an IgG4/IgG ratio of 75 and 64 %, respectively, which qualifies the lesions according to the diagnostic criteria for IgG4-related disease as « probable histological feature of IgG4-related disease ». There were no rearrangements of immunoglobulin heavy-chain genes and plasma cells had a polytypic pattern of kappa and lambda light-chain expression. The non-tumor liver showed primary biliary cirrhosis with destructive cholangitis without IgG4 plasma cells. In both cases, IgG4-related disease was not found in other organs neither at the time of diagnosis nor 3 years later. Serum IgG4 levels normalized after local ablation of the lesions. It seems unlikely that these lesions are a manifestation of IgG4-related disease. However, because the pathogenesis of both nodular lymphoid lesions and IgG4-related disease remains unclear, further studies are needed to elucidate a potential link between nodular lymphoid lesions of the liver and an increased number of IgG4 plasma cells. More definite conclusions will be possible when the pathogenesis of IgG4-related disease has been clarified.

  5. [A rare form of benign tumor of the liver possibly related to the use of oral contraceptives: focal pediculated nodular hyperplasia].

    PubMed

    Brouquet, J; Chameaud, J; Vire, O; Fabre, P; Catanzano, G; Baudet, J H

    1985-01-01

    Following a recent case, the authors review the literature of hepatic nodular hyperplasia. The incidence of this condition increases regularly with the consumption of oestrogens. They attempt to define the methods of detection for patients at highest risk. Without exaggerating the incidence of this complication of oral contraceptives, the authors believe that it will become increasingly more common than the vascular complications which, although frequently discussed, are relatively rare.

  6. [A case of Behçet disease with multiple nodular shadows and aneurysm of the brachiocephalic trunk caused by necrotizing vasculitis].

    PubMed

    Kato, Eishi; Isobe, Yuka; Mizuno, Akiko; Wakayama, Hisashi; Ogasawara, Tomohiko; Suzuki, Masayuki; Shimizu, Shigeki; Niimi, Takashi; Sato, Shigeki; Ueda, Ryuzo

    2006-02-01

    A 36-year-old man was admitted to our hospital in 1994 because of fever, and abdominal CT showed multiple low-density areas in the liver. Although granulomas were found in a liver biopsy specimen, a definitive diagnosis could not be established. With complaints of oral and genital ulcerations and erythema nodosum, Behçet disease was diagnosed in 1995 and he was treated with colchicine and cyclosporin. In May 1997 he had fever, leg edema, and proteinuria, and a renal biopsy revealed secondary amyloidosis. Cavitary lesions were found on a chest X-ray for the first time, but these later disappeared spontaneously. In October 2002, nodular shadows, cavitary lesions, and a mediastinal tumor appeared on a chest X-ray film. The nodular shadows in the lung fields had transformed into cavity lesions, resulting in the disappearance of the shadows. Specimens obtained from an open lung biopsy showed necrotizing granulomas and destructive vasculitis of the lung, and aneurysm of the brachiocephalic trunk caused by destructive vasculitis. Because multiple nodular shadows with cavitary lesions in Behçet disease, as in this case, have never been reported, we think this is a rare case.

  7. Correlation between Focal Nodular Low Signal Changes in Hoffa's Fat Pad Adjacent to Anterior Femoral Cartilage and Focal Cartilage Defect Underlying This Region and Its Possible Implication

    PubMed Central

    Ng, Wuey Min

    2016-01-01

    Purpose. This study investigates the association between focal nodular mass with low signal in Hoffa's fat pad adjacent to anterior femoral cartilage of the knee (FNMHF) and focal cartilage abnormality in this region. Method. The magnetic resonance fast imaging employing steady-state acquisition sequence (MR FIESTA) sagittal and axial images of the B1 and C1 region (described later) of 148 patients were independently evaluated by two reviewers and categorized into four categories: normal, FNMHF with underlying focal cartilage abnormality, FNMHF with normal cartilage, and cartilage abnormality with no FNMHF. Results. There was a significant association (p = 0.00) between FNMHF and immediate adjacent focal cartilage abnormality with high interobserver agreement. The absence of focal nodular lesions next to the anterior femoral cartilage has a very high negative predictive value for chondral injury (97.8%). Synovial biopsy of focal nodular lesion done during arthroscopy revealed some fibrocollagenous tissue and no inflammatory cells. Conclusion. We postulate that the FNMHF adjacent to the cartilage defects is a form of normal healing response to the cartilage damage. One patient with FHMHF and underlying cartilage abnormality was rescanned six months later. In this patient, the FNMHF disappeared and normal cartilage was observed in the adjacent region which may support this theory. PMID:27213085

  8. Nodular mesangial lesions, marked mesangiolysis, and fingerprint deposits of unknown origin in a patient with nephrotic syndrome: a unique combination of glomerular lesions.

    PubMed

    Ohtani, Hiroshi; Wakui, Hideki; Komatsuda, Atsushi; Okuyama, Shin; Masai, Rie; Maki, Nobuki; Kigawa, Akihiko; Sawada, Ken-Ichi

    2006-06-01

    A 46-year-old woman developed nephrotic syndrome at the age of 16 in 1973. On the basis of the histological findings of the first renal biopsy, she was diagnosed as having minimal change nephrotic syndrome. Initial treatment with steroid was effective, but she had several relapses during tapering of the daily dose of steroid. The second renal biopsy, performed in 1997, disclosed glomerular lobulation, mesangial proliferation, nodular mesangial lesions, and mesangiolysis. From 2001, the degree of proteinuria increased, with urinary protein being 5 g/day in January 2003, when a third renal biopsy was performed. On light microscopy, the glomerular lesions were similar to those observed in 1997. Immunofluorescence microscopy revealed coarse granular stainings for IgG, IgA, IgM, kappa, lambda, and C3 in the mesangial area and along the capillary walls. On electron microscopy, fingerprint structures were observed in the mesangial and subendothelial deposits. There were no characteristic fibers in the nodular lesions. On the basis of clinical and laboratory findings in this patient, we excluded disease entities in which nodular mesangial lesions, mesangiolysis, and fingerprint deposits had been reported. To our knowledge, such a unique combination of glomerular lesions has not been described previously in the literature.

  9. Statistical Study to Evaluate the Effect of Processing Variables on Shrinkage Incidence During Solidification of Nodular Cast Irons

    NASA Astrophysics Data System (ADS)

    Gutiérrez, J. M.; Natxiondo, A.; Nieves, J.; Zabala, A.; Sertucha, J.

    2017-04-01

    The study of shrinkage incidence variations in nodular cast irons is an important aspect of manufacturing processes. These variations change the feeding requirements on castings and the optimization of risers' size is consequently affected when avoiding the formation of shrinkage defects. The effect of a number of processing variables on the shrinkage size has been studied using a layout specifically designed for this purpose. The β parameter has been defined as the relative volume reduction from the pouring temperature up to the room temperature. It is observed that shrinkage size and β decrease as effective carbon content increases and when inoculant is added in the pouring stream. A similar effect is found when the parameters selected from cooling curves show high graphite nucleation during solidification of cast irons for a given inoculation level. Pearson statistical analysis has been used to analyze the correlations among all involved variables and a group of Bayesian networks have been subsequently built so as to get the best accurate model for predicting β as a function of the input processing variables. The developed models can be used in foundry plants to study the shrinkage incidence variations in the manufacturing process and to optimize the related costs.

  10. Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.

    PubMed

    Descartes, Maria; Mikhail, Fady M; Franklin, Judith C; McGrath, Tony M; Bebin, Martina

    2011-10-01

    Monosomy 1p36 is a clinically recognizable syndrome that is considered to be the most common terminal deletion syndrome. It has characteristic clinical features that include craniofacial dysmorphism, congenital anomalies, hearing deficits, developmental delay, mental retardation, hypotonia, seizures, and brain anomalies. Brain anomalies in patients with 1p36 deletion are frequent but inconsistent. To date, 2 cases with monosomy 1p36 associated with periventricular nodular heterotopia (PNH) have been reported. We report a 2-month-old boy with multiple congenital anomalies; brain magnetic resonance imaging revealed PNH. The first 2 described cases were pure terminal deletions, whereas our patient carried unbalanced translocation due to an adjacent 1 segregation of a balanced maternal translocation, resulting in monosomy 1p36.3 and trisomy 19p13.3 identified by whole-genome array comparative genomic hybridization analysis. Our patient, with a smaller deletion that the 2 previously reported cases, can help narrow the critical region for PNH in association with the 1p36 deletion. Several potential candidate genes are discussed.

  11. Helicobacter suis-Infected Nodular Gastritis and a Review of Diagnostic Sensitivity for Helicobacter heilmannii-Like Organisms.

    PubMed

    Goji, Shigeki; Tamura, Yasuhiro; Sasaki, Makoto; Nakamura, Masahiko; Matsui, Hidenori; Murayama, Somay Yamagata; Ebi, Masahide; Ogasawara, Naotaka; Funaki, Yasushi; Kasugai, Kunio

    2015-01-01

    Helicobacter heilmannii-like organisms (HHLOs) are associated with mucosa-associated lymphoid tissue lymphoma and peptic ulcer. However, the sensitivity of diagnostic tests for HHLOs, such as rapid urease test (RUT), urea breath test (UBT) and blood antibody, is not high. Tightly coiled spiral microorganisms were found in the gastric mucosal biopsy specimen of a 48-year-old asymptomatic woman. Her findings were positive for RUT and UBT, but negative for blood antibody and stool antigen against H. pylori. A 7-day course of esomeprazole, amoxicillin and clarithromycin was administered, resulting in the successful eradication of the HHLOs. Analysis of the 16S rRNA and urease genes suggested a diagnosis of the HHLO H. suis. The sensitivity results of RUT, UBT, culture, blood antibody, immunohistochemistry and stool antigen were 40.0, 14.8, 0, 23.1, 40.0 and 0%, respectively. We report asymptomatic nodular gastritis due to an HHLO. Histological techniques, most likely with smears, are expected to be the most effective method for diagnosing infections by HHLOs, and genetic diagnosis by polymerase chain reaction can be very useful to identify the species of HHLOs.

  12. Helicobacter suis-Infected Nodular Gastritis and a Review of Diagnostic Sensitivity for Helicobacter heilmannii-Like Organisms

    PubMed Central

    Goji, Shigeki; Tamura, Yasuhiro; Sasaki, Makoto; Nakamura, Masahiko; Matsui, Hidenori; Murayama, Somay Yamagata; Ebi, Masahide; Ogasawara, Naotaka; Funaki, Yasushi; Kasugai, Kunio

    2015-01-01

    Helicobacter heilmannii-like organisms (HHLOs) are associated with mucosa-associated lymphoid tissue lymphoma and peptic ulcer. However, the sensitivity of diagnostic tests for HHLOs, such as rapid urease test (RUT), urea breath test (UBT) and blood antibody, is not high. Tightly coiled spiral microorganisms were found in the gastric mucosal biopsy specimen of a 48-year-old asymptomatic woman. Her findings were positive for RUT and UBT, but negative for blood antibody and stool antigen against H. pylori. A 7-day course of esomeprazole, amoxicillin and clarithromycin was administered, resulting in the successful eradication of the HHLOs. Analysis of the 16S rRNA and urease genes suggested a diagnosis of the HHLO H. suis. The sensitivity results of RUT, UBT, culture, blood antibody, immunohistochemistry and stool antigen were 40.0, 14.8, 0, 23.1, 40.0 and 0%, respectively. We report asymptomatic nodular gastritis due to an HHLO. Histological techniques, most likely with smears, are expected to be the most effective method for diagnosing infections by HHLOs, and genetic diagnosis by polymerase chain reaction can be very useful to identify the species of HHLOs. PMID:26120299

  13. Statistical Study to Evaluate the Effect of Processing Variables on Shrinkage Incidence During Solidification of Nodular Cast Irons

    NASA Astrophysics Data System (ADS)

    Gutiérrez, J. M.; Natxiondo, A.; Nieves, J.; Zabala, A.; Sertucha, J.

    2017-01-01

    The study of shrinkage incidence variations in nodular cast irons is an important aspect of manufacturing processes. These variations change the feeding requirements on castings and the optimization of risers' size is consequently affected when avoiding the formation of shrinkage defects. The effect of a number of processing variables on the shrinkage size has been studied using a layout specifically designed for this purpose. The β parameter has been defined as the relative volume reduction from the pouring temperature up to the room temperature. It is observed that shrinkage size and β decrease as effective carbon content increases and when inoculant is added in the pouring stream. A similar effect is found when the parameters selected from cooling curves show high graphite nucleation during solidification of cast irons for a given inoculation level. Pearson statistical analysis has been used to analyze the correlations among all involved variables and a group of Bayesian networks have been subsequently built so as to get the best accurate model for predicting β as a function of the input processing variables. The developed models can be used in foundry plants to study the shrinkage incidence variations in the manufacturing process and to optimize the related costs.

  14. Immunoarchitectural patterns of progressive transformation of germinal centers with and without nodular lymphocyte-predominant Hodgkin lymphoma.

    PubMed

    Hartmann, Sylvia; Winkelmann, Ria; Metcalf, Ryan A; Treetipsatit, Jitsupa; Warnke, Roger A; Natkunam, Yasodha; Hansmann, Martin-Leo

    2015-11-01

    Progressive transformation of germinal centers (PTGC) has been frequently described in association with Hodgkin lymphoma, particularly nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL). The aim of this study was to evaluate morphologic features of PTGC for better delineation of PTGC from early involvement by NLPHL. A total of 160 cases of PTGC were evaluated and included in the following 3 groups: 93 patients with PTGC who never developed a lymphoma, 23 patients with synchronous PTGC and NLPHL, and 44 patients with PTGC with antecedent or subsequent history of lymphoma. By histopathologic evaluation, 5 patterns of PTGC that reflected progressive dismantling of germinal centers were identified. There was no difference in the distribution of patterns 1 to 4 among the 3 groups of PTGC; however, in patients showing synchronous involvement of PTGC and NLPHL, pattern 5, which resembles a naïve B-cell follicle, was significantly more frequently observed (14/23) when compared with patients with PTGC who never developed a lymphoma (30/93; P = .0161). Furthermore, recognition of the spectrum of immunoarchitectural patterns of PTGC, including architectural and cytologic features, was helpful to better differentiate nodules involved by PTGC from NLPHL.

  15. Mck2-dependent infection of alveolar macrophages promotes replication of MCMV in nodular inflammatory foci of the neonatal lung.

    PubMed

    Stahl, F R; Keyser, K A; Heller, K; Bischoff, Y; Halle, S; Wagner, K; Messerle, M; Förster, R

    2015-01-01

    Infection with cytomegalovirus (CMV) shows a worldwide high prevalence with only immunocompromised individuals or newborns to become symptomatic. The host's constitution and the pathogen's virulence determine whether disease occurs after infection. Mouse CMV (MCMV) is an appreciated pathogen for in vivo investigation of host-pathogen interactions. It has recently been reported that a single base pair deletion can spontaneously occur in the open reading frame of MCMV-encoded chemokine 2 (MCK2), preventing the expression of the full-length gene product. To study the consequences of this mutation, we compared the Mck2-defective reporter virus MCMV-3D with the newly generated repaired Mck2(+) mutant MCMV-3DR. Compared with MCMV-3D, neonatal mice infected with MCMV-3DR showed severe viral disease after lung infection. Viral disease coincided with high viral activity in multiple organs and increased virus replication in previously described nodular inflammatory foci (NIF) in the lung. Notably, MCMV-3DR showed tropism for alveolar macrophages in vitro and in vivo, whereas MCMV-3D did not infect this cell type. Moreover, in vivo depletion of alveolar macrophages reduced MCMV-3DR replication in the lung. We proposed an Mck2-mediated mechanism by which MCMV exploits alveolar macrophages to increase replication upon first encounter with the host's lung mucosa.

  16. Exercise Training in Progressive Multiple Sclerosis

    PubMed Central

    Paulseth, John E.; Dove, Carin; Jiang, Shucui; Rathbone, Michel P.; Hicks, Audrey L.

    2016-01-01

    Background: There is evidence of the benefits of exercise training in multiple sclerosis (MS); however, few studies have been conducted in individuals with progressive MS and severe mobility impairment. A potential exercise rehabilitation approach is total-body recumbent stepper training (TBRST). We evaluated the safety and participant-reported experience of TBRST in people with progressive MS and compared the efficacy of TBRST with that of body weight–supported treadmill training (BWSTT) on outcomes of function, fatigue, and health-related quality of life (HRQOL). Methods: Twelve participants with progressive MS (Expanded Disability Status Scale scores, 6.0–8.0) were randomized to receive TBRST or BWSTT. Participants completed three weekly sessions (30 minutes) of exercise training for 12 weeks. Primary outcomes included safety assessed as adverse events and patient-reported exercise experience assessed as postexercise response and evaluation of exercise equipment. Secondary outcomes included the Multiple Sclerosis Functional Composite, the Modified Fatigue Impact Scale, and the Multiple Sclerosis Quality of Life–54 questionnaire scores. Assessments were conducted at baseline and after 12 weeks. Results: Safety was confirmed in both exercise groups. Participants reported enjoying both exercise modalities; however, TBRST was reviewed more favorably. Both interventions reduced fatigue and improved HRQOL (P ≤ .05); there were no changes in function. Conclusions: Both TBRST and BWSTT seem to be safe, well tolerated, and enjoyable for participants with progressive MS with severe disability. Both interventions may also be efficacious for reducing fatigue and improving HRQOL. TBRST should be further explored as an exercise rehabilitation tool for patients with progressive MS. PMID:27803637

  17. Evaluating Walking in Patients with Multiple Sclerosis

    PubMed Central

    Bennett, Susan

    2011-01-01

    Walking limitations are among the most visible manifestations of multiple sclerosis (MS). Regular walking assessments should be a component of patient management and require instruments that are appropriate from the clinician's and the patient's perspectives. This article reviews frequently used instruments to assess walking in patients with MS, with emphasis on their validity, reliability, and practicality in the clinical setting. Relevant articles were identified based on PubMed searches using the following terms: “multiple sclerosis AND (walking OR gait OR mobility OR physical activity) AND (disability evaluation)”; references of relevant articles were also searched. Although many clinician- and patient-driven instruments are available, not all have been validated in MS, and some are not sensitive enough to detect small but clinically important changes. Choosing among these depends on what needs to be measured, psychometric properties, the clinical relevance of results, and practicality with respect to space, time, and patient burden. Of the instruments available, the clinician-observed Timed 25-Foot Walk and patient self-report 12-Item Multiple Sclerosis Walking Scale have properties that make them suitable for routine evaluation of walking performance. The Dynamic Gait Index and the Timed Up and Go test involve other aspects of mobility, including balance. Tests of endurance, such as the 2- or 6-Minute Walk, may provide information on motor fatigue not captured by other tests. Quantitative measurement of gait kinetics and kinematics, and recordings of mobility in the patient's environment via accelerometry or Global Positioning System odometry, are currently not routinely used in the clinical setting. PMID:24453700

  18. Psychiatric disorders prior to amyotrophic lateral sclerosis

    PubMed Central

    Goldacre, Raph; Talbot, Kevin; Goldacre, Michael J.

    2016-01-01

    It is recognized that neuropsychiatric conditions are overrepresented in amyotrophic lateral sclerosis (ALS) patient kindreds and psychiatric symptoms may precede the onset of motor symptoms. Using a hospital record linkage database, hospitalization with a diagnosis of schizophrenia, bipolar disorder, depression, or anxiety was significantly associated with a first diagnosis of ALS within the following year. This is likely to specifically reflect the clinicopathological overlap of ALS with frontotemporal dementia. A diagnosis of depression was significantly associated with a first record of ALS ≥5 years later, in keeping with growing evidence for major depressive disorder as an early marker of cerebral neurodegeneration. Ann Neurol 2016;80:935–938 PMID:27761925

  19. Evoked potentials in monitoring multiple sclerosis.

    PubMed

    Leocani, L; Medaglini, S; Comi, G

    2000-01-01

    The usefulness of evoked potentials (EPs) in the diagnosis of multiple sclerosis is limited by its relatively low sensitivity to subclinical lesions. However, they are still a good tool to assess the integrity of afferent and efferent pathways and to quantify the severity of white matter involvement. Transversal and longitudinal studies have demonstrated good correlation between EP abnormalities and disability, suggesting that multimodal evoked potentials could be useful in monitoring the disease evolution in single patients and as surrogate end points in clinical trials.

  20. [Risk of affective disorder in multiple sclerosis].

    PubMed

    Stenager, Elsebeth Nylev; Stage, Kurt Bjerregaard; Stenager, Egon

    2011-01-10

    An increased risk for depression has been found in multiple sclerosis (MS). The purpose of the present study has been to give suggestions to guidelines for diagnosis and treatment of depression in MS in Denmark based on the international literature and recommendations. The method was a review of the relevant literature. The study recommends assessment of all MS patients for depression. Treatment of depression with serotonin reuptake inhibitors and/or cognitive behavioural therapy is recommended, depending on the severity of the illness. Caution is recommended in patients receiving beta interferon treatment.

  1. The neurobiology of tuberous sclerosis complex.

    PubMed

    Ess, Kevin C

    2006-03-01

    Tuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by inactivation of either the TSC1 or TSC2 genes. The disorder typically has profound neurologic involvement and often presents early in life with epilepsy, developmental delay, mental retardation, and autism. These features are generally accepted to result from structural brain abnormalities that are found in patients with TSC. Although much progress has recently been made in discerning the function(s) of the TSC genes, many questions remain as to the role of these genes in brain development and homeostasis. This review will summarize recent progress and suggest future avenues of basic science research.

  2. Pemphigus vulgaris and amyotrophic lateral sclerosis

    PubMed Central

    Mokhtari, Fatemeh; Matin, Marzieh; Rajati, Fatemeh

    2016-01-01

    Pemphigus vulgaris (PV) is an autoimmune bullous and erosive mucocutaneous disease. Rarely, it occurs in patients with other autoimmune disease. The relation between PV and neurological disorders is unclear and needs to be more studied. Here, we report a case of amyotrophic lateral sclerosis (ALS), followed by dermatologic involvement. Histopathological evidence and direct immunofluorescence are consistent with PV. Systemic corticosteroid and azathioprine were effective in the treatment of mucocutaneous lesions. PV seems to be accidentally associated with ALS. Expression of major histocompatibility complex Class II in autoimmune disease and production of autoantibodies have been proposed to describe the association of PV with ALS. PMID:28163728

  3. Genetics, Epigenetics, and Genomics of Systemic Sclerosis.

    PubMed

    Salazar, Gloria; Mayes, Maureen D

    2015-08-01

    Systemic sclerosis (SSc) is a complex autoimmune disease that occurs in a genetically susceptible host. Genetic studies performed so far reveal that multiple genetic loci contribute to disease susceptibility in SSc. The purpose of this review is to discuss the current knowledge of genetics in SSc by exploring the observational evidence, the different genetic studies, and their modalities as well as the most relevant genes discovered by these. The importance of gene expression variation and the different mechanisms that govern it, including the recently discovered field of epigenetics, are also explored, with an emphasis on microRNA.

  4. Heterogeneity versus homogeneity of multiple sclerosis

    PubMed Central

    Sato, Fumitaka; Martinez, Nicholas E; Omura, Seiichi; Tsunoda, Ikuo

    2011-01-01

    The 10th International Congress of Neuroimmunology, including the 10th European School of Neuroimmunology Course, was held by the International Society of Neuroimmunology in Sitges (Barcelona, Spain) on 26–30 October 2010. The conference covered a wide spectrum of issues and challenges in both basic science and clinical aspects of neuroimmunology. Data and ideas were shared through a variety of programs, including review talks and poster sessions. One of the topics of the congress was whether multiple sclerosis is a homogenous or heterogenous disease, clinically and pathologically, throughout its course. PMID:21426254

  5. Refractory anemia in systemic sclerosis: myelodisplastic syndrome.

    PubMed

    Sargın, Gökhan; Şentürk, Taşkın; Yavaşoğlu, İrfan

    2015-09-01

    Systemic sclerosis (SSc) is an autoimmune connective tissue disease characterized by small vessel vasculopathy, autoantibodies, and skin or visceral organ fibrosis (lung, oesophagus, kidney etc.) as a result of extracellular collagen deposition. The cancer risk is higher in many rheumatic diseases, including SSc. Various defined malignancies may develop in 3%-11% of patients with SSc. These solid tumors are generally observed in the lung, oesophagus, or breast. In addition, an increased risk for hematological cancers were reported in literature. Herein, we describe an interesting case of SSc complicated by myelodisplastic syndrome (MDS). Our aim is to draw attention to developing cancers and the rare occurence of MDS in patients with SSc.

  6. Monthly distribution of multiple sclerosis patients' births

    NASA Astrophysics Data System (ADS)

    Bharanidharan, Padmanabhan

    As part of an integrated geographical and environmental epidemiological study of multiple sclerosis (MS) in Budapest's Pesterzsébet district, many biometeorological variables were specifically examined. Also, the monthly distribution of birthdates of MS patients resident in the district was plotted. Patients reliably diagnosed with MS were found to have been born in greater numbers in the months of April and October, precisely 6 months apart. This finding indicates the presence of natural non-genetic factors in the creation of MS susceptibility, affecting the nervous system at the crucial time of myelination.

  7. Vascular involvement in systemic sclerosis (scleroderma)

    PubMed Central

    Pattanaik, Debendra; Brown, Monica; Postlethwaite, Arnold E

    2011-01-01

    Systemic sclerosis (SSc) is an acquired multiorgan connective tissue disease with variable mortality and morbidity dictated by clinical subset type. The etiology of the basic disease and pathogenesis of the systemic autoimmunity, fibrosis, and fibroproliferative vasculopathy are unknown and debated. In this review, the spectrum of vascular abnormalities and the options currently available to treat the vascular manifestations of SSc are discussed. Also discussed is how the hallmark pathologies (ie, how autoimmunity, vasculopathy, and fibrosis of the disease) might be effected and interconnected with modulatory input from lysophospholipids, sphingosine 1-phosphate, and lysophosphatidic acid. PMID:22096374

  8. New oral drugs for multiple sclerosis.

    PubMed

    Gasperini, Claudio; Ruggieri, S

    2009-10-01

    Disease-modifying treatments are now available in relapsing-remitting and secondary progressive multiple sclerosis (MS), and their beneficial effects have been shown in several clinical studies. However, as these treatments are only partially effective in halting the MS disease process and are frequently associated with side effects and suboptimal patient adherence, new oral therapeutic approaches are warranted. This review focuses on advances in current and novel oral treatment approaches for MS. Several pivotal reports have provided promising results for new oral therapies evaluating the safety and efficacy of new agents including fingolimod, fumaric acid, cladribine, teriflunomide and laquinimod.

  9. The changing scene of amyotrophic lateral sclerosis.

    PubMed

    Robberecht, Wim; Philips, Thomas

    2013-04-01

    Several recent breakthroughs have provided notable insights into the pathogenesis of amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this neurodegenerative disease and raising the question as to whether this disorder is a proteinopathy, a ribonucleopathy or both. In addition, these breakthroughs have revealed mechanistic links between ALS and frontotemporal dementia, as well as between ALS and other neurodegenerative diseases, such as the cerebellar atrophies, myotonic dystrophy and inclusion body myositis. Here, we summarize the new findings in ALS research, discuss what they have taught us about this disease and examine issues that are still outstanding.

  10. Quantifying disease progression in amyotrophic lateral sclerosis.

    PubMed

    Simon, Neil G; Turner, Martin R; Vucic, Steve; Al-Chalabi, Ammar; Shefner, Jeremy; Lomen-Hoerth, Catherine; Kiernan, Matthew C

    2014-11-01

    Amyotrophic lateral sclerosis (ALS) exhibits characteristic variability of onset and rate of disease progression, with inherent clinical heterogeneity making disease quantitation difficult. Recent advances in understanding pathogenic mechanisms linked to the development of ALS impose an increasing need to develop strategies to predict and more objectively measure disease progression. This review explores phenotypic and genetic determinants of disease progression in ALS, and examines established and evolving biomarkers that may contribute to robust measurement in longitudinal clinical studies. With targeted neuroprotective strategies on the horizon, developing efficiencies in clinical trial design may facilitate timely entry of novel treatments into the clinic.

  11. Understanding the Etiology of Tuberous Sclerosis Complex

    DTIC Science & Technology

    2011-07-01

    of tuber- ous sclerosis. Ann N Y Acad Sci. 1991;615:125–127.   2. European  Chromosome  16 Tuberous Sclerosis  Consortium. Identification and...our lesion lacks cytomegalic cells with a mixed neuron-glial or immature phenotype (e.g. immunostaining for nestin or proliferative markers ) called...circuitry of TSC and other mTOR-associated neurodevelopmental disorders. References Alexander GM, Rogan SC, Abbas AI, Armbruster BN, Pei Y

  12. Gluten sensitivity in multiple sclerosis: experimental myth or clinical truth?

    PubMed

    Shor, Dana Ben-Ami; Barzilai, Ori; Ram, Maya; Izhaky, David; Porat-Katz, Bat Sheva; Chapman, Joab; Blank, Miri; Anaya, Juan-Manuel; Shoenfeld, Yehuda

    2009-09-01

    Patients with neurological disease of unknown etiology sometimes present with antigliadin and antitissue transglutaminase antibodies. The association between these antibodies and multiple sclerosis has been previously suggested. The purpose of this study was to determine the prevalence of these antibodies in multiple sclerosis patients. We determined the level of serum immunoglobulin A and immunoglobulin G antigliadin and antitissue transglutaminase antibodies in 98 patients with multiple sclerosis. We found a highly significant increase in titers of immunoglobulin G antibodies against gliadin and tissue transglutaminase in the multiple sclerosis patients. Seven patients had a positive IgG AGA, whereas only 2 controls presented positive titers (P = 0.03). Four patients had positive IgG anti-tTG while all the controls tested negative (P = 0.02). However, immunoglobulin A antibodies against gliadin and tissue transglutaminase were not statistically higher in the multiple sclerosis group in comparison to the control group. Our findings support the associations between antibodies against gliadin and tissue transglutaminase to multiple sclerosis. The specific role of these antibodies in the pathogenesis of multiple sclerosis remains uncertain and requires additional research. A gluten free diet should be considered in specific cases of patients who present with gluten antibodies.

  13. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist

    PubMed Central

    de Vries, Petrus J.; Whittemore, Vicky H.; Leclezio, Loren; Byars, Anna W.; Dunn, David; Ess, Kevin C.; Hook, Dena; King, Bryan H.; Sahin, Mustafa; Jansen, Anna

    2015-01-01

    BACKGROUND Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral, psychiatric, intellectual, academic, neuropsychologic, and psychosocial difficulties. These may represent the greatest burden of the disease. Around 90% of individuals with tuberous sclerosis complex will have some of these difficulties during their lifetime, yet only about 20% ever receive evaluation and treatment. The Neuropsychiatry Panel at the 2012 Tuberous Sclerosis Complex International Consensus Conference expressed concern about the significant “treatment gap” and about confusion regarding terminology relating to the biopsychosocial difficulties associated with tuberous sclerosis complex. METHODS The Tuberous Sclerosis Complex Neuropsychiatry Panel coined the term TAND—tuberous sclerosis complex-associated neuropsychiatric disorders—to bring together these multidimensional manifestations of the disorder, and recommended annual screening for TAND. In addition, the Panel agreed to develop a TAND Checklist as a guide for screening. RESULTS Here, we present an outline of the conceptualization of TAND, rationale for the structure of the TAND Checklist, and include the full US English version of the TAND Checklist. CONCLUSION We hope that the unified term TAND and the TAND Checklist will raise awareness of the importance of tuberous sclerosis complex-associated neuropsychiatric disorders and of the major burden of disease associated with it, provide a shared language and a simple tool to describe and evaluate the different levels of TAND, alert clinical teams and families or individuals of the importance of screening, assessment, and treatment of TAND, and provide a shared framework for future studies of tuberous sclerosis complex-associated neuropsychiatric disorders. PMID:25532776

  14. Amyotrophic lateral sclerosis: one or multiple causes?

    PubMed Central

    Bastos, Aline Furtado; Orsini, Marco; Machado, Dionis; Mello, Mariana Pimentel; Nader, Sergio; Silva, Júlio Guilherme; da Silva Catharino, Antonio M.; de Freitas, Marcos R.G.; Pereira, Alessandra; Pessoa, Luciane Lacerda; Sztajnbok, Flavio R.; Leite, Marco Araújo; Nascimento, Osvaldo J.M.; Bastos, Victor Hugo

    2011-01-01

    The Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease in the adulthood, and it is characterized by rapid and progressive compromise of the upper and lower motor neurons. The majority of the cases of ALS are classified as sporadic and, until now, a specific cause for these cases still is unknown. To present the different hypotheses on the etiology of ALS. It was carried out a search in the databases: Bireme, Scielo and Pubmed, in the period of 1987 to 2011, using the following keywords: Amyotrophic lateral sclerosis, motor neuron disease, etiology, causes and epidemiology and its similar in Portuguese and Spanish. It did not have consensus as regards the etiology of ALS. Researches demonstrates evidences as regards intoxication by heavy metals, environmental and occupational causes, genetic mutations (superoxide dismutase 1), certain viral infections and the accomplishment of vigorous physical activity for the development of the disease. There is still no consensus regarding the involved factors in the etiology of ALS. In this way, new research about these etiologies are necessary, for a better approach of the patients, promoting preventive programs for the disease and improving the quality of life of the patients. PMID:21785676

  15. The Danish Multiple Sclerosis Treatment Register

    PubMed Central

    Magyari, Melinda; Koch-Henriksen, Nils; Sørensen, Per Soelberg

    2016-01-01

    Aim of the database The Danish Multiple Sclerosis Treatment Register (DMSTR) serves as a clinical quality register, enabling the health authorities to monitor the quality of the disease-modifying treatment, and it is an important data source for epidemiological research. Study population The DMSTR includes all patients with multiple sclerosis who had been treated with disease-modifying drugs since 1996. At present, more than 8,400 patients have been registered in this database. Data are continuously entered online into a central database from all sites in Denmark at start and at regular visits. Main variables Include age, sex, onset year and year of the diagnosis, basic clinical information, and information about treatment, side effects, and relapses. Descriptive data Notification is done at treatment start, and thereafter at every scheduled clinical visit 3 months after treatment start, and thereafter every 6 months. The longitudinally collected information about the disease activity and side effects made it possible to investigate the clinical efficacy and adverse events of different disease-modifying therapies. Conclusion The database contributed to a certain harmonization of treatment procedures in Denmark and will continue to be a major factor in terms of quality in clinical praxis, research and monitoring of adverse events, and plays an important role in research. PMID:27822098

  16. Suicide and multiple sclerosis: an epidemiological investigation.

    PubMed Central

    Stenager, E N; Stenager, E; Koch-Henriksen, N; Brønnum-Hansen, H; Hyllested, K; Jensen, K; Bille-Brahe, U

    1992-01-01

    In a nationwide investigation the risk of death by suicide for patients with multiple sclerosis (MS) was assessed using records kept at the Danish Multiple Sclerosis Registry (DMSR) and the Danish National Register of Cause of Death. The investigation covers all MS patients registered with DSMR with an onset of the disease within the period 1953-85, or for whom MS was diagnosed in the same period. Fifty three of the 5525 cases in the onset cohort group committed suicide. Using the figures from the population death statistics by adjustment to number of subjects, duration of observation, sex, age, and calendar year at the start of observation, the expected number of suicides was calculated to be nearly 29. The cumulative lifetime risk of suicide from onset of MS, using an actuarial method of calculation, was 1.95%. The standard mortality ratio (SMR) of suicide in MS was 1.83. It was highest for males and for patients with onset of MS before the age of 30 years and those diagnosed before the age of 40. The SMR was highest within the first five years after diagnosis. PMID:1640228

  17. Symptom management in patients with multiple sclerosis.

    PubMed

    Ziemssen, Tjalf

    2011-12-01

    Multiple sclerosis is a complex disease associated with a wide variety of different symptoms that can affect the ability of multiple sclerosis patients to carry out normal activities of daily living. Although a myriad of symptoms can afflict these patients, the most commonly reported include fatigue, mood disorders, changes in cognitive function or memory, sensory changes (numbness, pain, vibrations), motor changes (loss of balance, poor coordination, muscle weakness or stiffness), vision changes (double vision, blurred vision, loss of vision) and bladder or bowel dysfunction. Treatments are available that can help minimise some of these symptoms and relieve patient distress. After the diagnosis has been established and a decision taken regarding initiation of immunomodulatory treatments, the majority of management decisions with which the physician will be confronted will concern symptom management. Whereas some symptoms are relatively easily treated, others are more difficult to manage. Management involves rehabilitation, pharmacological treatments and surgical procedures. Successful symptom management is a key determinant of quality of life for the patient and is the basis for improving physical and psychological function.

  18. Cellular immune response in multiple sclerosis plaques.

    PubMed Central

    Boyle, E. A.; McGeer, P. L.

    1990-01-01

    Multiple sclerosis plaques were immunohistochemically stained to exhibit cells expressing immune-system antigens. Human leukocyte antigen (HLA)-DR-positive cells formed dense rings around all plaque regions. The majority were reactive microglia/macrophages. Counterstaining with oil red O revealed heavy myelin debris within these cells. They were distinct from astrocytes, which were identified with an antibody to glial fibrillary acidic protein (GFAP) and which did not contain oil red O myelin debris. Numerous leukocytes and microglia were stained with antibody to leukocyte common antigen (LCA). Lymphocytes in cuffs around vessels, along the margins of capillary walls, and, sparingly, in the tissue matrix of affected areas, were stained with antibodies to CD4 (T-helper/inducer) and CD8 (T-cytotoxic/suppressor). In experimental allergic encephalomyelitis (EAE) induced in Lewis rats, a similar proliferation of Ia-positive (OX6, OX17) cells displaying reactive microglia/macrophage morphology was observed. These Ia-positive cells also were easily distinguished from GFAP-positive astrocytes. The results suggest that macrophages/reactive microglia, and not astrocytes, express class II MHC antigens in multiple sclerosis and EAE plaques. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 PMID:1698025

  19. The diagnosis of multiple sclerosis and the various related demyelinating syndromes: a critical review.

    PubMed

    Karussis, Dimitrios

    2014-01-01

    Multiple sclerosis (MS), is a chronic disease of the central nervous system (CNS) characterized by loss of motor and sensory function, that results from immune-mediated inflammation, demyelination and subsequent axonal damage. MS is one of the most common causes of neurological disability in young adults. Several variants of MS (and CNS demyelinating syndromes in general) have been nowadays defined in an effort to increase the diagnostic accuracy, to identify the unique immunopathogenic profile and to tailor treatment in each individual patient. These include the initial events of demyelination defined as clinically or radiologically isolated syndromes (CIS and RIS respectively), acute disseminated encephalomyelitis (ADEM) and its variants (acute hemorrhagic leukoencephalitis-AHL, Marburg variant, and Balo's concentric sclerosis), Schilder's sclerosis, transverse myelitis, neuromyelitis optica (NMO and NMO spectrum of diseases), recurrent isolated optic neuritis and tumefactive demyelination. The differentiation between them is not only a terminological matter but has important implications on their management. For instance, certain patients with MS and prominent immunopathogenetic involvement of B cells and autoantibodies, or with the neuromyelitic variants of demyelination, may not only not respond well but even deteriorate under some of the first-line treatments for MS. The unique clinical and neuroradiological features, along with the immunological biomarkers help to distinguish these cases from classical MS. The use of such immunological and imaging biomarkers, will not only improve the accuracy of diagnosis but also contribute to the identification of the patients with CIS or RIS who, are at greater risk for disability progression (worse prognosis) or, on the contrary, will have a more benign course. This review summarizes in a critical way, the diagnostic criteria (historical and updated) and the definitions/characteristics of MS of the various variants

  20. Physical activity in subjects with multiple sclerosis with focus on gender differences: a survey

    PubMed Central

    2014-01-01

    Background There is increasing research that examines gender-issues in multiple sclerosis (MS), but little focus has been placed on gender-issues regarding physical activity. The aim of the present study was to describe levels of physical activity, self-efficacy for physical activity, fall-related self-efficacy, social support for physical activity, fatigue levels and the impact of MS on daily life, in addition to investigating gender differences. Methods The sample for this cross-sectional cohort study consisted of 287 (84 men; 29.3%) adults with MS recruited from the Swedish Multiple Sclerosis Registry. A questionnaire was sent to the subjects consisting of the self-administrated measurements: Physical Activity Disability Survey – Revised, Exercise Self-Efficacy Scale, Falls- Efficacy Scale (Swedish version), Social Influences on Physical Activity, Fatigue Severity Scale and Multiple Sclerosis Impact Scale. Response rate was 58.2%. Results Men were less physically active, had lower self-efficacy for physical activity and lower fall-related self-efficacy than women. This was explained by men being more physically affected by the disease. Men also received less social support for physical activity from family members. The level of fatigue and psychological consequences of the disease were similar between the genders in the total sample, but subgroups of women with moderate MS and relapsing remitting MS experienced more fatigue than men. Conclusions Men were less physically active, probably a result of being more physically affected by the disease. Men being more physically affected explained most of the gender differences found in this study. However, the number of men in the subgroup analyses was small and more research is needed. A gender perspective should be considered in strategies for promoting physical activity in subjects with MS, e.g. men may need more support to be physically active. PMID:24612446

  1. Age at onset of multiple sclerosis may be influenced by place of residence during childhood rather than ancestry.

    PubMed

    Kennedy, J; O'Connor, P; Sadovnick, A D; Perara, M; Yee, I; Banwell, B

    2006-01-01

    Multiple sclerosis (MS) most commonly affects individuals of Northern European descent who live in countries at high latitude. The relative contributions of ancestry, country of birth and residence as determinants of MS risk have been studied in adult MS, but have not been explored in the pediatric MS population. In this study, we compare the demographics of pediatric- and adult-onset MS patients cared for in Toronto, Ontario, Canada, a multicultural region. The country of birth, residence during childhood, and ancestry were compared for 44 children and 573 adults. Our results demonstrate that although both the pediatric and adult cohorts were essentially born and raised in the same region of Ontario, Canada, children with MS were more likely to report Caribbean, Asian or Middle Eastern ancestry, and were less likely to have European heritage compared with individuals with adult-onset MS. The difference in ancestry between the pediatric and adult MS cohorts can be explained by two hypotheses: (1) individuals raised in a region of high MS prevalence, but whose ancestors originate from regions in which MS is rare, have an earlier age of MS onset, and (2) the place of residence during childhood, irrespective of ancestry, determines lifetime MS risk -- a fact that will be reflected in a change in the demographics of the adult MS cohort in our region as Canadian-raised children of recent immigrants reach the typical age of adult-onset MS.

  2. Negative correlation between thyroperoxidase and dual oxidase H2O2-generating activities in thyroid nodular lesions.

    PubMed

    Ginabreda, Maria Gloria P; Cardoso, Luciene C; Nobrega, Flavia M; Ferreira, Andrea C F; Gonçalves, Manuel Domingos C; Vaisman, Mário; Carvalho, Denise P

    2008-02-01

    Iodine incorporation into thyroglobulin is dependent on the activities of both thyroperoxidase (TPO) and thyroid dual oxidase 2 (DuOx2). Although TPO expression is decreased in some thyroid nodular lesions, DuOx1 and 2 mRNA expressions are maintained, but DuOx H2O2-generating activity has never been evaluated in such tumors. Our goal was to determine DuOx activity in hypofunctioning lesions of the thyroid. We evaluated H2O2 generation by DuOx in 12 paranodular to cold nodule samples, 17 non-toxic multinodular goiters (MNG; 33 samples), 3 papillary carcinomas (PC; 4 samples), 3 follicular carcinomas (FC; 4 samples), and 10 follicular adenomas. DuOx activity was detected in all paranodular tissues (121+/-23 nmol H2O2/h per mg protein), but was undetectable (<1 nmol H2O2 generated) in all PC, two out of four FC samples and seven out of ten adenomas. In 11 MNG at least two different areas of the goiter have been evaluated, and in 5 of these goiters one of the samples had DuOx activity below the limit of detection. The coefficient of variation in MNG samples ranged from 11.3 to 57.2%. Interestingly, in all the adenomas studied, TPO activity (486+/-142 U/g protein, n=8) was well within the range found in paranodular tissues (414+/-116 U/g protein, n=3). We found a significant negative correlation between DuOx and TPO activities, suggesting that these enzymes are regulated in opposite directions, at least in thyroid tumors.

  3. Intraparotid classical and nodular lymphocyte-predominant Hodgkin lymphoma: pattern analysis with emphasis on associated lymphadenoma-like proliferations.

    PubMed

    Agaimy, Abbas; Wild, Vanessa; Märkl, Bruno; Wachter, David L; Hartmann, Arndt; Rosenwald, Andreas; Ihrler, Stephan

    2015-09-01

    Most of the lymphoproliferative diseases involving the salivary glands represent indolent non-Hodgkin B-cell lymphoma (marginal zone lymphoma) related to chronic autoimmune sialadenitis (Sjögren disease). Other types of non-Hodgkin lymphomas involve the salivary glands less frequently. On rare occasions, classical Hodgkin lymphoma (CHL) and nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) present initially as a primary salivary gland mass. We analyzed a series of CHL (n=3) and NLPHL (n=6) presenting initially as parotid gland tumors concerning their pattern (parenchymal vs. intraparotid lymph node) and the presence of salivary inclusions and epithelial proliferations within the lymphoma infiltrate. The pattern of infiltration was determined on hematoxylin and eosin-stained slides assisted by immunostaining for pancytokeratin to highlight lobular salivary gland parenchyma. Patients included 6 male and 3 female individuals with a mean age of 62 years (range, 36 to 88 y). Lymphoma was localized within intraparotid lymph nodes in 8 cases and was limited to salivary parenchyma in 1 case. Parenchymal involvement in nodal-based cases was scored as absent (3) or minimal (5). Salivary inclusions (acini and ductules) within affected lymph nodes were noted in 6 cases (4/5 NLPHLs and 2/3 CHLs). In 3/6 NLPHL cases, salivary inclusions showed variable proliferative changes ranging from prominent lymphoepithelial lesions to cystic and oncocytic (Warthin-like) epithelial changes. Scanty small lymphoepithelial lesions were seen in 1 of the 3 CHL cases. One NLPHL in the intraparotid lymph node was accompanied by prominent lymphoepithelial sialadenitis in the absence of clinical signs of Sjögren disease. This study highlights that a majority of parotid gland Hodgkin lymphomas arise within intraparotid lymph nodes. Frequent entrapment and proliferation of salivary ducts and acini within the lymphoma infiltrate might mimic a variety of benign lymphoepithelial mass

  4. An S100P-positive biliary epithelial field is a preinvasive intraepithelial neoplasm in nodular-sclerosing cholangiocarcinoma.

    PubMed

    Nakanuma, Yasuni; Uchida, Tsuneyuki; Sato, Yasunori; Uesaka, Katsuhiko

    2017-02-01

    Nodular-sclerosing cholangiocarcinoma (NS-CCA) is a common CCA of the intrahepatic large, perihilar, and distal bile ducts. Intraepithelial biliary neoplasms, such as the mucosal extension of carcinoma and preinvasive neoplastic lesions (ie, biliary intraepithelial neoplasia) reportedly occur in the bile ducts around CCA. In the present study, we collectively refer to these intraepithelial lesions as "intraepithelial neoplasms of the bile duct (IENBs)". We examined the IENBs in 57 surgically resected cases of NS-CCA. S100P immunostaining was used to help detect IENBs. The IENBs formed field(s) of continuous neoplastic biliary epithelial cells and showed a flat, micropapillary, or papillotubular configuration. IENBs could be classified into 3 categories based on their atypia: group A (neoplastic but not enough for malignancy), B (neoplastic and sufficiently well differentiated for high-grade dysplasia), and C (overtly malignant and variably differentiated). IENB was found in 31 of 57 cases, with group C the most common (26 cases) followed by group B (22 cases) and group A (16 cases). The expression of cancer-related molecules and MIB-1 index of groups A and B differed from those of invasive CCA, whereas these features of group C were relatively similar to those of invasive CCA. In conclusion, IENB was not infrequently found in NS-CCA and could be classified into 3 grades. Preinvasive lesions (biliary intraepithelial neoplasias) are likely to be found in groups A and B, whereas cancerization would be included in group C. The classification of IENB may be useful for future studies of the preinvasive intraepithelial neoplastic lesions of NS-CCAs.

  5. Steatohepatitis-like Changes in Focal Nodular Hyperplasia, A Finding to Distinguish From Steatohepatitic Variant of Hepatocellular Carcinoma.

    PubMed

    Deniz, Kemal; Moreira, Roger K; Yeh, Matthew M; Ferrell, Linda D

    2017-02-01

    Steatohepatitis-like change has not been described in focal nodular hyperplasia (FNH). Steatohepatitis-like change in FNH may show overlapping features with steatohepatitic variant of hepatocellular carcinoma (HCC). This problem can be compounded if seen in FNH with widened cell plates or hepatocyte rosettes, other features that can also be seen in HCC. This study examined steatotic FNHs for the frequency of steatohepatitis-like change, especially in the setting of FNH with rosettes and/or widened cell plates. Thirty-three resection specimens of steatotic FNH from 3 institutions were evaluated for degree of steatosis, background liver steatosis, ductular reaction, and lymphocytic infiltrate, as well as presence of thick fibrous bands, thick-walled vessels, ballooned hepatocytes, Mallory-Denk bodies, dilated sinusoids, hepatocyte rosettes, and thick hepatic plates. Steatosis was distributed along fibrous septa as well as diffusely throughout the FNH. Steatohepatitis-like changes were focally present in 54% (18 cases). Thick plates>3 cells were focally found in 14 cases (42%); rosettes were common (70%). All cases showed at least 2 of the histologic features highly suggestive for the diagnosis of FNH such as thick bands of fibrosis, thick-walled vessels and/or ductular reaction and the typical map-like pattern of glutamine synthetase immunostaining. More than half of fatty FNH examined for this study had features of at least focal steatohepatitis-like changes. This finding should not be confused with steatohepatitic variant of HCC. Common typical features of FNH including thick-walled vessels, ductular reaction and thick fibrous bands are helpful for discrimination of FNH from HCC.

  6. Altered expression of cell cycle regulators Cyclin D1, p14, p16, CDK4 and Rb in nodular melanomas.

    PubMed

    Bachmann, Ingeborg M; Straume, Oddbjørn; Akslen, Lars A

    2004-12-01

    Cell cycle regulating proteins are important in tumour development. To investigate whether alterations in Cyclin D1, p14, CDK4 and Rb are associated with tumour cell proliferation, tumour progression and patient survival in malignant melanoma, we examined 202 vertical growth phase tumours and 68 corresponding metastases for expression of Cyclin D1, p14, CDK4 and Rb, and compared the results with Ki-67 expression, p16 and p53 expression, clinico-pathological variables, and survival data. Nuclear staining of Cyclin D1 was strong in 35% of cases, and correlated with high levels of Rb (p=0.05), but not with survival or other markers tested. Strong staining of p14 was found in 63% of nodular melanomas and was associated with strong p53 expression (p=0.014), and with high levels of CDK4 (p<0.0001). Low p14 expression was associated with increased tumour thickness (p=0.008) and increasing level of invasion (p=0.020). Strong nuclear staining for CDK4 was found in 81% of cases and was associated with tumour thickness below the median value of 3.7 mm and improved survival (log-rank test, p=0.024). Further, 56% of the tumours showed strong nuclear staining for Rb, and these cases were significantly associated with absent/low levels of p16 staining (p=0.030), high levels of p14 (p=0.010), as well as high Ki-67 expression (p=0.005). Our results seem to confirm that the p16-Rb pathway plays an important role in tumour progression and prognosis in vertical growth phase melanomas, whereas alterations in the p14-p53 pathway might be less important.

  7. Introduction and utility of liquid-based cytology on aspiration biopsy of peripheral nodular lesions of the lung.

    PubMed

    Imura, Johji; Abe, Kaori; Uchida, Yoshiaki; Shibata, Masaharu; Tsunematsu, Kazue; Sathoh, Motohiro; Miwa, Shigeharu; Nakajima, Takahiko; Nomoto, Kazuhiro; Hayashi, Shinichi; Tsuneyama, Koichi

    2014-03-01

    In the present study, aspiration biopsy cytology (ABC) was used for the diagnosis of peripheral nodular lesions in the lung (PNLL), and liquid-based cytology (LBC) was carried out on the material collected to evaluate it in comparison with the conventional method (CM). The subjects comprised 130 cases that underwent computed tomography (CT)-guided ABC for PNLL. A total of 73 cases received a tumor resection, with a diagnosis based on the pathology, while 57 cases were followed up, as the tumor showed no change on the radiological examinations. Biopsy samples from these patients and lavage fluid from the aspiration needles were used for analysis. Cellular material was obtained by centrifugation of the lavage fluid, and samples were prepared by two methods, direct smearing and LBC according to the ThinPrep method. The samples were categorized into three diagnoses: i) Benign, ii) suspicion of malignancy and iii) malignant. Appropriate samples were collected in 72% of cases by LBC, but only in 36% of cases by the CM. There was no marked difference in cellular images between the two methods, with the exception of a few specific cases. LBC on its own provided sensitivity at 68%, specificity at 61% and accuracy at 65%, while a combination of LBC and biopsy markedly improved these figures to 94, 81 and 84%, respectively. The introduction of LBC is considered useful for the cytopathological diagnosis of PNLL by CT-guided ABC. LBC enables the examination of appropriate samples rich in cellular components and supports a biopsy-based diagnosis. A combination of these two methods provides even higher diagnostic accuracy, and LBC is considered an excellent method to evaluate these pathological samples.

  8. Diagnostic value of high resolution computed tomography in the assessment of nodular changes in pneumoconiosis in foundry workers in Lublin.

    PubMed

    Mosiewicz, Jerzy; Myśliński, Wojciech; Złomaniec, Grazyna; Czabak-Garbacz, Róza; Krupski, Witold; Dzida, Grzegorz

    2004-01-01

    The workers of an iron foundry were exposed to air pollution, which after some time of exposure results in lung fibrosis among some workers. The diagnosis of pneumoconiosis in workers of an iron foundry is based mainly on the radiological findings among workers exposed to the dust causing lung fibrosis. However, on radiograms many parenchymal structures overlap, which limits sensitivity and specificity to the method. Difficulties in accurate interpretation of conventional radiograms in silicosis also result from their relatively low resolution. The purpose of the present study was to assess the value and usefulness of high resolution computed tomography in the diagnostics of nodular changes in foundry workers' pneumoconiosis, compared to conventional radiography. The study group consisted of 64 iron foundry workers in whom silicosis had been recognized. The average age of the group was 51 years and the mean silica exposure time was 23 years. Chest radiograms with hard X-rays were taken at the maximal inspiration phase. For the HRCT examination the Siemens Somatom ART apparatus was used, equipped with a 512 x 512 pixels reconstruction matrix and a special programme for high resolution algorithm image reconstruction. In our material, consistency of results for conventional radiography and HRCT in revealing the presence of nodules was high. A statistically significant increase in detectability of intralobular nodules and peripheral nodules localized under the pleura was observed. The increase in detectability of cavernous, calcified nodules and those in the upper pulmonary fields obtained from computed tomography, however, was not statistically significant. High resolution computed tomography provides significant additional information in patients with foundry workers' pneumoconiosis.

  9. Nodule excitability in an animal model of periventricular nodular heterotopia: c-fos activation in organotypic hippocampal slices

    PubMed Central

    Doisy, Emily T.; Wenzel, H. Jürgen; Mu, Yi; Nguyen, Danh V.; Schwartzkroin, Philip A.

    2015-01-01

    Objective Aberrations in brain development may lead to dysplasic structures such as periventricular nodules. While these abnormal collections of neurons are often associated with difficult-to-control seizure activity, there is little consensus regarding the epileptogenicity of the nodules themselves. Since one common treatment option is surgical resection of suspected epileptic nodules, it is important to determine whether these structures in fact give rise, or essentially contribute, to epileptic activities. Methods To study the excitability of aberrant nodules, we have examined c-fos activation in organotypic hippocampal slice cultures generated from an animal model of periventricular nodular heterotopia created by treating pregnant rats with methylazoxymethanol. Using this preparation, we have also attempted to assess tissue excitability when the nodule is surgically removed from the culture. We then compared c-fos activation in this in vitro preparation to c-fos activation generated in an intact rat treated with kainic acid. Results Quantitative analysis of c-fos activation failed to show enhanced nodule excitability compared to neocortex or CA1 hippocampus. However, when we compared cultures with and without a nodule, presence of a nodule did affect the excitability of CA1 and cortex, at least as reflected in c-fos labeling. Surgical removal of the nodule did not result in a consistent decrease in excitability as reflected in the c-fos biomarker. Significance Our results from the organotypic culture were generally consistent with our observations on excitability in the intact rat – as seen not only with c-fos but also in previous electrophysiological studies. At least in this model, the nodule does not appear to be responsible for enhanced excitability (or, presumably, seizure initiation). Excitability is different in tissue that contains a nodule, suggesting altered network function, perhaps reflecting the abnormal developmental pattern that gave rise to

  10. Compositional evolution and substitutions in disseminated and nodular tourmaline from leucocratic granites: Examples from the Bohemian Massif, Czech Republic

    NASA Astrophysics Data System (ADS)

    Buriánek, David; Novák, Milan

    2007-04-01

    Two distinct textural types of tourmaline have been distinguished in leucocratic granites of the Bohemian Massif (Moldanubicum, Saxothuringicum): (i) commonly euhedral disseminated tourmaline (DT) crystallized during relatively early stage of the granite consolidation, and (ii) typically interstitial nodular tourmaline (NT) formed during the stage transitional from late solidus to early subsolidus crystallization. The following substitutions (exchange vectors) participated in tourmaline from the studied granites: (1) X□ YAl XNa - 1 YR 2+- 1 in the DT granites from the Moldanubicum; (2) X□ YAl 3WO 2XNa - 1 YR 2+- 3 W(OH) - 2 and (6) XNa YR 2+WF X□ - 1 YAl - 1 WOH - 1 in the DT and NT granites from the Saxothuringicum. Tourmaline in the NT granites from the Moldanubicum yielded a complicated pattern indicating participation of several substitutions such as (1), (2) and (3) X□ YAl 2WO XNa - 1 YR 2+- 2 W(OH) - 1 . Very similar chemical compositions and similar fractionation trends in both DT and NT tourmaline types indicate crystallization in a quasi-closed system from early solidus to early subsolidus stage of granite consolidation. Substitutions in tourmaline from NT granites in the Moldanubicum are more similar to substitutions in tourmaline from Li-poor granitic pegmatites in the same region relative to tourmaline from DT granites. Plotting up EMP analyses of tourmaline indicates that a combination of two ternary diagrams Al-Fe-Mg and Na-Ca- X-site vacancy, coupled with simple plots involving single cations (elements) such as Na/Al, F/Na, Fe/Mg, characterizes both their chemical composition as well as the probable substitution mechanisms. Complex diagrams such as R1 + R2 versus R3 do not enable a proper investigation of the compositional evolution in the X-site and W-site and oversimplify the real substitutions. As a consequence the use of specific diagrams for specific tourmaline compositions (e.g., Ca-rich, Li-rich) is recommended.

  11. Possible association of elevated serum collagen type IV level with skin sclerosis in systemic sclerosis.

    PubMed

    Motegi, Sei-Ichiro; Sekiguchi, Akiko; Fujiwara, Chisako; Toki, Sayaka; Ishikawa, Osamu

    2016-08-29

    Collagen type IV is the primary collagen in the basement membranes around blood vessels and in the dermoepidermal junction in the skin. Perivascular collagen type IV is synthesized by endothelial cells and pericytes, and contributes to the homeostasis and remodeling of blood vessels. It has been well recognized that elevated serum collagen type IV levels are associated with the liver fibrosis. The objective was to examine serum collagen type IV levels and their clinical associations in patients with systemic sclerosis (SSc), and to examine the expression of collagen type IV in the fibrotic skin in SSc. Serum collagen type IV levels in SSc patients and diffuse cutaneous type SSc patients were significantly higher than those in healthy individuals. Serum collagen type IV levels were positively correlated with modified Rodnan total skin score. Serum collagen type IV levels in early stage (disease duration ≤3 years) diffuse cutaneous SSc patients were significantly elevated. Serum collagen type IV levels in SSc patients with digital ulcers (DU) were significantly elevated. In immunohistochemical staining, the expression of collagen type IV around dermal small vessels in the affected skin was reduced compared with those of normal individuals. These results suggest that elevated serum collagen type IV levels may be associated with the skin sclerosis in the early stage of SSc. The measurement of serum collagen type IV levels in SSc patients may be useful as a disease activity marker in skin sclerosis and DU.

  12. Postsecondary Education for Individuals with Multiple Sclerosis: Issues and Strategies.

    ERIC Educational Resources Information Center

    Yagodich, Nancy L.; Wolfe, Pamela S.; Boone, Rosalie S.

    2000-01-01

    Describes characteristics of multiple sclerosis and the implications of its manifestations for postsecondary education. Provides a checklist for students selecting a postsecondary institution regarding general considerations, academic accommodations, support and services, and self-assessment. (SK)

  13. Jaw, blink and corneal reflex latencies in multiple sclerosis.

    PubMed Central

    Sanders, E A; Ongerboer de Visser, B W; Barendswaard, E C; Arts, R J

    1985-01-01

    Jaw, blink and corneal reflexes, which all involve the trigeminal system, were recorded in 54 patients with multiple sclerosis; thirty-seven of these patients were classified as having definite multiple sclerosis and 17 as indefinite multiple sclerosis, according to Schumacher's criteria. The jaw reflex was abnormal less frequently than either of the other two reflexes, but in four cases it was the only abnormal reflex found. Testing a combination of two or three trigeminal reflexes did not yield a higher incidence of abnormalities than testing the blink or corneal reflex alone. Nine patients showed abnormal reflexes which were unexpected on the basis of clinical symptoms. The combined recordings demonstrate at least one abnormal reflex in 74% of the patients. The various types of reflex abnormalities reflect major damage to different parts of the trigeminal system and may therefore make an important contribution to the diagnosis of multiple sclerosis. PMID:4087004

  14. Stem Cell Transplants May Help Some with Multiple Sclerosis

    MedlinePlus

    ... page: https://medlineplus.gov/news/fullstory_163677.html Stem Cell Transplants May Help Some With Multiple Sclerosis Review ... 20, 2017 MONDAY, Feb. 20, 2017 (HealthDay News) -- Stem cell transplants may halt the progression of aggressive multiple ...

  15. Clinical and neurochemical characteristics of pediatric multiple sclerosis - CSF analysis as knowledge base for differential diagnosis and pathophysiology.

    PubMed

    Rostasy, Kevin; Reiber, Hansotto

    2009-06-01

    Multiple sclerosis (MS) is the most common chronic inflammatory disease of the central nervous system affecting young adults. Although adults and children share important features of the disease, they also differ in some clinical, radiological and laboratory aspects. This review focuses on the neuroimmunological findings in the cerebrospinal fluid of children with MS pointing out that there is already at earliest time of clinical manifestation a neuroimmunological pattern, which differs only in intensity of the humoral immune response but not in frequency and does not support a neuroimmunological difference between early onset from adult onset MS. The humoral immune response with intrathecal IgG and IgM class response and the polyspecific production of antibodies against a wide range of antigens (MRZ antibody response) further helps to differentiate childhood MS from ADEM as the main differential diagnostic challenge.

  16. Regression-based norms improve the sensitivity of the National MS Society Consensus Neuropsychological Battery for Pediatric Multiple Sclerosis (NBPMS).

    PubMed

    Smerbeck, A M; Parrish, J; Yeh, E A; Weinstock-Guttman, B; Hoogs, M; Serafin, D; Krupp, L; Benedict, R H B

    2012-01-01

    The National Multiple Sclerosis Society Consensus Neuropsychological Battery for Pediatric Multiple Sclerosis (NBPMS) was designed to detect cognitive impairment in children and adolescents with multiple sclerosis. One weakness of the battery is the reliance on published manual-based normative samples varying in size and quality. These primary sources base interpretation on discrete age bands, a practice which may be particularly problematic during periods of rapid development in childhood and adolescence. A further impediment to valid NBPMS interpretation is the lack of control for demographic factors other than age. We endeavored to develop regression-based norms for the NBPMS by gathering a demographically balanced sample of 102 healthy control children and using their performance to derive normalization, controlling for multiple demographic variables (i.e., age, age(2), gender, parent education). The regression-based normative equations were applied to the performance of 51 children with MS. For many of the major test scores, the regression-based norms more readily detected impairment. As in the case of adult MS, these results indicate that regression-based norms offer interpretive benefits over their manual-based counterparts.

  17. Health-related quality of life in multiple sclerosis

    PubMed Central

    Fisk, John D.; Patten, Scott B.; Tremlett, Helen; Wolfson, Christina; Warren, Sharon; Fiest, Kirsten M.; McKay, Kyla A.; Marrie, Ruth Ann

    2016-01-01

    Objective: To evaluate the direct and indirect influences of physical comorbidity, symptoms of depression and anxiety, fatigue, and disability on health-related quality of life (HRQoL) in persons with multiple sclerosis (MS). Methods: A large (n = 949) sample of adults with MS was recruited from 4 Canadian MS clinics. HRQoL was assessed using the patient-reported Health Utilities Index Mark 3. Expanded Disability Status Scale scores, physical comorbidity, depression, anxiety, and fatigue were evaluated as predictors of HRQoL in a cross-sectional path analysis. Results: All predictors were significantly associated with HRQoL and together accounted for a large proportion of variance (63%). Overall, disability status most strongly affected HRQoL (β = −0.52) but it was closely followed by depressive symptoms (β = −0.50). The direct associations of physical comorbidity and anxiety with HRQoL were small (β = −0.08 and −0.10, respectively), but these associations were stronger when indirect effects through other variables (depression, fatigue) were also considered (physical comorbidity: β = −0.20; anxiety: β = −0.34). Conclusions: Increased disability, depression and anxiety symptoms, fatigue, and physical comorbidity are associated with decreased HRQoL in MS. Disability most strongly diminishes HRQoL and, thus, interventions that reduce disability are expected to yield the most substantial improvement in HRQoL. Yet, interventions targeting other factors amenable to change, particularly depression but also anxiety, fatigue, and physical comorbidities, may all result in meaningful improvements in HRQoL, as well. Our findings point to the importance of further research confirming the efficacy of such interventions. PMID:26962068

  18. The Immunogenetics of Multiple Sclerosis: A Comprehensive Review

    PubMed Central

    Hollenbach, Jill A.; Oksenberg, Jorge R.

    2015-01-01

    Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system and common cause of non-traumatic neurological disability in young adults. The likelihood for an individual to develop MS is strongly influenced by her or his ethnic background and family history of disease, suggesting that genetic susceptibility is a key determinant of risk. Over 100 loci have been firmly associated with susceptibility, whereas the main signal genome-wide maps to the class II region of the human leukocyte antigen (HLA) gene cluster and explains up to 10.5% of the genetic variance underlying risk. HLA-DRB1*15:01 has the strongest effect with an average odds ratio of 3.08. However, complex allelic hierarchical lineages, cis/trans haplotypic effects, and independent protective signals in the class I region of the locus have been described as well. Despite the remarkable molecular dissection of the HLA region in MS, further studies are needed to generate unifying models to account for the role of the MHC in disease pathogenesis. Driven by the discovery of combinatorial associations of Killer-cell Immunoglobulin-like Receptor (KIR) and HLA alleles with infectious, autoimmune diseases, transplantation outcome and pregnancy, multi-locus immunogenomic research is now thriving. Central to immunity and critically important for human health, KIR molecules and their HLA ligands are encoded by complex genetic systems with extraordinarily high levels of sequence and structural variation and complex expression patterns. However, studies to-date of KIR in MS have been few and limited to very low resolution genotyping. Application of modern sequencing methodologies coupled with state of the art bioinformatics and analytical approaches will permit us to fully appreciate the impact of HLA and KIR variation in MS. PMID:26142251

  19. Immunoglobulin G heavy chain (Gm) allotypes in multiple sclerosis.

    PubMed Central

    Pandey, J P; Goust, J M; Salier, J P; Fudenberg, H H

    1981-01-01

    Serum samples from 70 Caucasian patients with multiple sclerosis were typed for nine Gm markers. Significant association was found with the Gm 1,17;21 phenotype, and the relative risk for individuals with this phenotype was calculated at 3.6. The data indicate that Caucasians positive for Gm 1,17;21 are almost four times more likely to develop multiple sclerosis than those without this phenotype. PMID:6787085

  20. Immunoglobulin G heavy chain (Gm) allotypes in multiple sclerosis.

    PubMed

    Pandey, J P; Goust, J M; Salier, J P; Fudenberg, H H

    1981-06-01

    Serum samples from 70 Caucasian patients with multiple sclerosis were typed for nine Gm markers. Significant association was found with the Gm 1,17;21 phenotype, and the relative risk for individuals with this phenotype was calculated at 3.6. The data indicate that Caucasians positive for Gm 1,17;21 are almost four times more likely to develop multiple sclerosis than those without this phenotype.