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Sample records for adult nodular sclerosis

  1. Nodular Scleroderma Revisited: Systemic Sclerosis Presenting as Annular Keloidal Sclerotic Plaques

    PubMed Central

    Lortscher, David N.; Cohen, Philip R.; Bangert, Carolyn A.

    2016-01-01

    Background: Nodular scleroderma, also known as keloidal scleroderma, is a rare variant of systemic sclerosis. Purpose: The clinical features, pathologic findings and postulated pathogenesis of nodular scleroderma are discussed. Methods: A woman with previously undiagnosed systemic sclerosis who presented with nodular scleroderma is described. Using the PubMed database, a literature search was performed on keloidal scleroderma, nodular scleroderma, and systemic sclerosis. Results: Nodular scleroderma is characterized by firm plaques or nodules, which can mimic a keloid, that are typically located on the anterior orposterior upper trunk and the arms; they show pathologic changes of scleroderma, keloid, or hypertrophic scar. Akeloidal response of inflamed skin that is involved in an active fibrotic process inherent to systemic sclerosis, in individuals who are genetically predisposed to keloid formation, is the hypothesized pathogenesis. Conclusion: Nodular scleroderma is rare. The authors’ patient presented with diarrhea, dysphagia, fatigue, Raynaud’s phenomenon, shortness of breath, and annular keloidal plaques of morphea whose biopsy showed features of hypertrophic scar; additional studies confirmed the diagnosis of the nodular scleroderma variant of systemic sclerosis. The possibility of systemic sclerosis should be entertained in patients who present with nodularor keloidal plaques that morphologically resemble morphea and have histologic findings of a scar or a keloid—especially if there are associated symptoms suggestive for systemic sclerosis. PMID:27386053

  2. A case of nodular scleroderma.

    PubMed

    Melani, Lucilla; Caproni, Marzia; Cardinali, Carla; Antiga, Emiliano; Bernacchi, Elisabetta; Schincaglia, Emiliano; Fabbri, Paolo

    2005-12-01

    Nodular scleroderma is a rare complication of systemic sclerosis; the pathogenetic implications are still unknown, although many factors are supposed to play a role in lesion development. We report the case of a young woman suffering from systemic sclerosis, who developed nodular lesions during therapeutic management with D-penicillamine and plasmapheresis. In order to better understand the essence of this disease, we examined all the possible pathogenetic mechanisms that could be implicated in nodular lesion development. PMID:16471471

  3. Relapsing nodular lesions in the course of adult pulmonary Langerhans cell histiocytosis.

    PubMed

    Tazi, A; Montcelly, L; Bergeron, A; Valeyre, D; Battesti, J P; Hance, A J

    1998-06-01

    In most patients with pulmonary Langerhans cell histiocytosis (LCH), clinical and radiological abnormalities initially either stabilize or regress, often without treatment. Little information is available, however, concerning the subsequent evolution of disease in patients who initially follow a benign course. We describe four patients with biopsy-confirmed pulmonary LCH whose initial course was characterized by regression of parenchymal nodular lesions, but who subsequently developed one or more episodes of active disease 7 mo to 7.5 yr after their initial presentation. In each case, the subsequent episodes of active disease were characterized by the reappearance or marked increase in nodular radiographic abnormalities, whose presence was confirmed by high-resolution computed tomography (HRCT). Thus, initial regression of nodular lesions in pulmonary LCH does not preclude the reappearance of one or more episodes of active disease, and may have important consequences on the long-term prognosis of these patients. PMID:9620939

  4. [Mesial temporal sclerosis syndrome in adult patients].

    PubMed

    Consalvo, D; Giobellina, R; Silva, W; Rugilo, C; Saidón, P; Schuster, G; Kochen, S; Sica, R

    2000-01-01

    Magnetic resonance imaging (MRI) has become an essential tool in the work-up of epilepsy. Since its appearance it has been possible to identify pathologies, such as hippocampal sclerosis (HS), that had previously only been detected by histopathological assays. The aim of this study was to analyze the clinical manifestations, EEG and the outcome of patients with HS as shown by MRI. We revised the clinical histories of 384 outpatients from the Epilepsy Center, Ramos Mejía Hospital, who had been studied by MRI. Thirty five of them (15.5%) had a diagnosis of HS, based on the structural changes observed on the images. Six patients were excluded because of incomplete clinical data. Therefore, we studied 29 patients including 15 men. The mean age was 32.7 +/- 10.2 years (range: 19-58). All of them had partial seizures. Ten subjects had had febrile convulsions (34.5%) in childhood. Neurological examination was normal in all subjects. Interictal EEG showed focal abnormalities that were coincident in their location with the MRI abnormalities in 16 patients (55.1%). Fourteen patients (48.3%) showed right side hippocampal lesions on MRI, thirteen on the left side (44.9%) and 2 bilateral HS (6.8%). Twenty-seven patients (93.1%) had intractable epilepsy. Anterior temporal lobectomy was performed in 3 subjects with good outcome. The identification of these patients who present certain clinical and MRI characteristics, provides an opportunity to define the mesial temporal sclerosis syndrome. This could benefit patients in their prognosis and for specific treatments. PMID:10962804

  5. 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. PMID:27021143

  6. Oral Findings in 58 Adults with Tuberous Sclerosis Complex

    PubMed Central

    Sparling, MAJ Joshua D.; Hong, Chien-Hui; Brahim, Jaime S.; Moss, Joel; Darling, Thomas N.

    2010-01-01

    Background Gingival fibromas and dental pitting are among the diagnostic criteria for tuberous sclerosis complex (TSC). Objective Our goal was to document the oral findings in 58 adult patients with TSC. Results Forty patients (69%) had oral fibromas, appearing mostly on the attached or interdental gingiva. Other oral sites included buccal and labial mucosa, the superior labial frenulum, palate, and tongue. Fifty-six patients (97 %) had multiple dental enamel pits. Limitations This case series comprised predominantly adult females with TSC and lymphangioleiomyomatosis. Conclusions Oral fibromas in TSC are mostly, but not exclusively, gingival. Dental pits are present in nearly all patients. The multiple oral papules in TSC may appear similar to those observed in Cowden syndrome, Birt-Hogg-Dube syndrome, and rarely in multiple endocrine neoplasia type 1. PMID:17239986

  7. Depression in Multiple Sclerosis: A Review of Assessment and Treatment Approaches in Adult and Pediatric Populations

    PubMed Central

    Skokou, Maria; Soubasi, Evanthia; Gourzis, Philippos

    2012-01-01

    Multiple sclerosis is a chronic demyelinating disease affecting one million people worldwide, with a significant burden of psychiatric comorbidity. Depression is the commonest psychiatric manifestation but still remains largely underdiagnosed and undertreated. The present work reviews current knowledge on diagnosis, assessment, and somatic and psychotherapeutic treatment interventions for depression in adult and pediatric populations of patients with multiple sclerosis. PMID:23097716

  8. Factors associated with gingival inflammation among adults with systemic sclerosis

    PubMed Central

    Yuen, Hon K.; Weng, Yanqiu; Reed, Susan G.; Summerlin, Lisa M.; Silver, Richard M.

    2013-01-01

    OBJECTIVE To identify factors associated with increased gingival inflammation in adults with systemic sclerosis (SSc, scleroderma). METHODS In this cross-sectional study, forty-eight adults with SSc received assessment of gingival inflammation using Löe and Silness gingival index (LSGI), measurement of oral aperture, and evaluation of manual dexterity to perform oral hygiene using the Toothbrushing Ability Test, as well as completion of an oral health-related questionnaire. RESULTS Three explanatory variables in the final multiple predictor models for the LSGI outcome were statistically significant -- manual dexterity to perform oral hygiene, flossing in the evening, and SSc subtype, with higher LSGI score among those with impaired manual dexterity, not flossing in the evening and diffuse form of SSc. In addition, posterior teeth had higher LSGI scores compared to that of the anterior teeth after adjusting for other variables CONCLUSIONS Results suggest that dental health professionals take manual dexterity into consideration when educating patients with SSc to improve their oral hygiene, and educate them on paying more attention on cleaning their posterior teeth and the importance of flossing in the evening -- especially those who only floss once a day or less often. PMID:23611650

  9. Epibulbar Nodular Fasciitis

    PubMed Central

    Massop, David John; Frederick, Paul Adam; Li, He J.; Lin, Amy

    2016-01-01

    Purpose To report a case of epibulbar nodular fasciitis in a 32-year-old female and provide context by reviewing the current literature. Results Using excisional biopsy, the patient was successfully diagnosed and treated for epibulbar nodular fasciitis. Upon follow-up, there has been no recurrence, consistent with the typical course for nodular fasciitis. Conclusions Epibulbar nodular fasciitis is a rare process that can be successfully treated by surgical resection. While two cases of trauma-associated epibulbar nodular fasciitis have been present in the literature, our case did not have such a history. The etiology of nodular fasciitis remains unclear. PMID:27462253

  10. 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…

  11. 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…

  12. 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…

  13. Occupational Therapy Interventions for Adults With Multiple Sclerosis.

    PubMed

    Preissner, Katharine; Arbesman, Marian; Lieberman, Deborah

    2016-01-01

    This Evidence Connection describes a case report of a woman with an exacerbation of multiple sclerosis (MS), applying the evidence for intervention from the systematic reviews on MS that were conducted in conjunction with the American Occupational Therapy Association's (AOTA's) Evidence-Based Practice Project. The occupational therapy assessment and treatment processes for an inpatient rehabilitation setting are described. Evidence Connection articles provide a clinical application of systematic reviews developed in conjunction with the AOTA's Evidence-Based Practice Project. PMID:27089301

  14. Injection of adult neurospheres induces recovery in a chronic model of multiple sclerosis.

    PubMed

    Pluchino, Stefano; Quattrini, Angelo; Brambilla, Elena; Gritti, Angela; Salani, Giuliana; Dina, Giorgia; Galli, Rossella; Del Carro, Ubaldo; Amadio, Stefano; Bergami, Alessandra; Furlan, Roberto; Comi, Giancarlo; Vescovi, Angelo L; Martino, Gianvito

    2003-04-17

    Widespread demyelination and axonal loss are the pathological hallmarks of multiple sclerosis. The multifocal nature of this chronic inflammatory disease of the central nervous system complicates cellular therapy and puts emphasis on both the donor cell origin and the route of cell transplantation. We established syngenic adult neural stem cell cultures and injected them into an animal model of multiple sclerosis--experimental autoimmune encephalomyelitis (EAE) in the mouse--either intravenously or intracerebroventricularly. In both cases, significant numbers of donor cells entered into demyelinating areas of the central nervous system and differentiated into mature brain cells. Within these areas, oligodendrocyte progenitors markedly increased, with many of them being of donor origin and actively remyelinating axons. Furthermore, a significant reduction of astrogliosis and a marked decrease in the extent of demyelination and axonal loss were observed in transplanted animals. The functional impairment caused by EAE was almost abolished in transplanted mice, both clinically and neurophysiologically. Thus, adult neural precursor cells promote multifocal remyelination and functional recovery after intravenous or intrathecal injection in a chronic model of multiple sclerosis. PMID:12700753

  15. 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).…

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

    PubMed

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

    2016-05-01

    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

  17. 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

  18. Salzmann's Nodular Degeneration.

    PubMed

    Maharana, Prafulla K; Sharma, Namrata; Das, Sujata; Agarwal, Tushar; Sen, Seema; Prakash, Gaurav; Vajpayee, Rasik B

    2016-01-01

    Salzmann's nodular degeneration (SND) is a rare, noninflammatory, slowly progressive degenerative disease of the cornea that is characterized by the appearance of nodular bluish gray opacities that vary in number and size. It is usually bilateral; most commonly occurring in people aged 50-60 years old, with a female preponderance; and often associated with a history of prior corneal inflammation. The clinical features usually depend on the location of the nodules. Generally, the nodules of SND are bluish white to gray in color, 1-2 mm in size, and round, conical or prismatic in shape. The overlying Bowman's layer is usually absent from the nodular areas and is partially replaced by granular Periodic Acid Schiff-positive eosinophilic material resembling the basement membrane. Diagnostic investigations include ultrasonic pachymetry, anterior segment optical coherence tomography, ultrasound biomicroscopy, and confocal microscopy. The majority of patients respond well to conservative management with topical lubricants; severe cases may require surgical intervention. The various surgical modalities described include superficial keratectomy, which may be combined with phototherapeutic keratectomy and keratoplasty. Various modifications of these procedures include the use of alcohol-assisted epithelial delamination, intraoperative mitomycin-C or amniotic membrane transplantation to make the procedure easy, reduce the risk of recurrence and improve postoperative comfort. Recurrences are rarely reported; overall, the visual prognosis following treatment is optimal. PMID:26462409

  19. Nodular Fasciitis of the Chest in a Young Woman

    PubMed Central

    Seo, Hong Joo; Ryu, Sang Wan; Lee, Mi Ja; Kim, Dong Hun; Kim, Hyung Ho

    2016-01-01

    Nodular fasciitis is a benign reactive proliferation that usually involves the deep fascia. Although it is relatively common in the adult population, it is often misdiagnosed as sarcoma due to its rapid growth and pathological features. It rarely presents as a chest wall tumor in young patients. Here, we report a case of nodular fasciitis involving the chest wall of an 18-year-old woman and its surgical management. This case underscores the need to consider nodular fasciitis in the differential diagnosis of chest wall tumors in young patients. PMID:26889452

  20. 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…

  1. 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…

  2. Nodular purpura in infancy

    PubMed Central

    Nagi, N. A.; Al-Dubooni, H. M.; Al-Shirkat, S. A. R.

    1982-01-01

    Seventeen infants with nodular purpura are reported. All these infants suffered from a coagulation abnormality due to vitamin K deficiency. Contributing factors were breast-feeding, the use of milk substitutes, diarrhoea and antimicrobial therapy. The patients responded rapidly and completely to parenteral vitamin K. In the management of infantile diarrhoea use of antibiotics should be restricted to specific bacteriologically proven cases. Vitamin K administration is suggested in infants with prolonged gastroenteritis and limited milk intake and particularly those receiving antibiotics. ImagesFig. 1 PMID:7111112

  3. 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…

  4. 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. PMID:21910127

  5. Factors associated with oral hygiene practices among adults with systemic sclerosis

    PubMed Central

    Yuen, Hon K.; Hant, Faye N.; Hatfield, Corey; Summerlin, Lisa M.; Smith, Edwin A.; Silver, Richard M.

    2013-01-01

    OBJECTIVE To identify factors associated with oral hygiene practices in adults with systemic sclerosis (SSc) METHODS In this cross-sectional study, 178 dentate adults with SSc received an oral examination which included measurement of oral aperture, assessment of manual dexterity to perform oral hygiene, as well as completion of the Center of Epidemiological Studies Depression (CES-D) Scale, and an oral health-related questionnaire. RESULTS Multivariable logistic regression modeling showed male, minority and high CES-D scores (i.e., clinically significant symptoms of depression) were associated with less likelihood of participants brushing teeth at least twice daily, but the presence of self-reported dry mouth symptoms increased the likelihood of toothbrushing. Having a dental visit in the past 12 months, and use of an adapted flossing or interdental cleaning device were significantly associated with daily dental flossing; however, having difficulty flossing teeth reduced the likelihood of daily flossing. CONCLUSIONS Overall, demographic variables were strongly associated with toothbrushing frequency, whereas, flossing self-efficacy and barriers were strongly associated with dental flossing frequency in adults with SSc. The results suggest that dental health professionals should take mental health into consideration when educating patients with SSc to improve their oral hygiene, and consider making referrals for patients exhibiting suspected clinically significant depressive symptoms to mental health professionals for further evaluation and treatment. In addition, an appropriate adapted flossing or interdental cleaning device should be recommended to increase dental flossing practices in this patient population. PMID:24128049

  6. Nodular fasciitis causing unilateral proptosis.

    PubMed Central

    Perry, R H; Ramani, P S; McAllister, V; Kalbag, R M; Kanagasundaram, C R

    1975-01-01

    A case report of an unusual case of nodular fasciitis in the orbit presenting with unilateral proptosis is described, and the radiological features are outlined. The histological features are discussed and the benign nature of the lesion stressed. Nodular fasciitis arising in the orbit and presenting as unilateral proptosis has not previously been reported in the literature. Images PMID:1060468

  7. 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

  8. Cystic and nodular lung disease.

    PubMed

    Richards, J Caleb; Lynch, David A; Chung, Jonathan H

    2015-06-01

    Diffuse cystic and nodular lung diseases have characteristic imaging findings. The most common causes of cystic lung disease are lymphangioleiomyomatosis and Langerhans cell histiocytosis. Other less common cystic lung diseases include Birt-Hogg-Dube syndrome, lymphocytic interstitial pneumonitis, and light chain deposition disease. Computed tomography is used to differentiate cystic lung disease from emphysema, honeycombing, cavities, and bronchiectasis, which mimic cystic lung disease. Diffuse nodular lung disease are categorized as centrilobular, perilymphatic, and random types. In diffuse nodular lung disease, a specific diagnosis is achieved through a combination of history, physical examination, and imaging findings. PMID:26024606

  9. 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

  10. Multiple sclerosis and risk of young-adult-onset Hodgkin lymphoma

    PubMed Central

    Hajiebrahimi, Mohammadhossein; Burkill, Sarah; Hillert, Jan; Olsson, Tomas; Bahmanyar, Shahram

    2016-01-01

    Objective: To determine whether there is an association between multiple sclerosis (MS) and young-adult-onset Hodgkin lymphoma (YAHL) as this will signal etiologic similarities relevant both to inherited characteristics and environmental exposures in childhood. Methods: Swedish general population registers identified a cohort of 29,617 with an MS diagnosis between 1968 and 2012, matched with a cohort of 296,164 without MS. Cox regression was used to assess the association of MS with subsequent YAHL (defined as onset between ages 15 and 39 years; n = 20), with adjustment, for age/period, sex, county of residence, and level of education. Results: The adjusted hazard ratio (and 95% confidence interval) for the association of MS with YAHL is 3.30 (1.01–10.73), resulting from 4 and 16 events in the MS and non-MS cohorts, respectively. All 4 of the YAHL diagnoses in MS occurred in women, and the association of MS with YAHL has a hazard ratio of 4.04 (1.17–13.94) among women. There was no notable association of MS with older-onset Hodgkin lymphoma. Conclusion: There may be common risks for YAHL and MS, consistent with an etiologic role in MS for early-life exposures, such as to infectious agents. PMID:27144218

  11. Effect of a Multi-Faceted Intervention on Gingival Health Among Adults with Systemic Sclerosis

    PubMed Central

    Yuen, Hon K.; Weng, Yanqiu; Bandyopadhyay, Dipankar; Reed, Susan G.; Leite, Renata S.; Silver, Richard M.

    2012-01-01

    OBJECTIVE To evaluate the effect of adaptive oral hygiene devices and orofacial exercise to improve gingival health among adults with systemic sclerosis (SSc). METHODS Forty-eight patients with SSc were assigned randomly to the multi-faceted oral health intervention or usual dental care control group. Participants in the intervention group received a rechargeable, powered Oral-B® oscillating-rotating-pulsating toothbrush and a Reach® Access™ Flosser that has a toothbrush-like handle. For those with an oral aperture of less than 40 mm, orofacial exercises were taught. Participants in the control group were each given a manual toothbrush and dental floss. Participants in both groups received instructions and demonstration on the use of the devices, and were requested to perform the respective intervention twice a day for 6 months. Evaluations were at baseline, 3-, and 6-months. The main outcome was gingival index (GI), an indicator of gingival inflammation. RESULTS Both groups showed significant reduction in GI scores at 6 months (Ps<0.005). Reduction in GI scores of the intervention group at 6 months was 20.8% which is considered to be clinically significant. Compared to the control group, the intervention group showed a significant and larger reduction in GI score by 8% at 6 months (P=0.0007). CONCLUSION Results support the use of adaptive devices and orofacial exercise to improve gingival health in adults with SSc when compared to use of manual toothbrushing and finger-held flossing. Recommending and educating patients with SSc to use adaptive devices to clean the tooth surfaces looks promising for long-term oral health improvement. PMID:21586215

  12. 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

  13. Nodular panniculitis in the dog.

    PubMed

    Baker, B B; Stannard, A A

    1975-10-15

    Nodular panniculitis, a granulomatous inflammatory disease of the subcutaneous fat, was diagnosed in 11 dogs. Clinically, the disease was characterized by development of subcutaneous nodules and intermittent fever and anorexia. Short-term corticosteroid therapy was effective in 10 of the 11 dogs. PMID:1237484

  14. Single Nodular Pulmonary Amyloidosis: Case Report

    PubMed Central

    Ko, Young Chun; Jeong, Jong Pil; Park, Chan Woo; Seo, Seok Ho; Kim, Jong Taek; Park, Dae Won; Bak, Cheol Min; Moon, Seung Ki; Jo, Shin Hyoung; Kim, Se Mi; Jung, Ah Lon

    2015-01-01

    Amyloidosis is defined as the presence of extra-cellular deposits of an insoluble fibrillar protein, amyloid. The pulmonary involvement of amyloidosis is usually classified as tracheobronchial, parenchymal nodular, or diffuse alveolar septal. A single nodular lesion can mimic various conditions, including malignancy, pulmonary tuberculosis, and fungal infection. To date, only one case of nodular pulmonary amyloidosis has been reported in Korea, a case involving multiple nodular lesions. Here, we report and discuss the case of a patient having single nodular amyloidosis. PMID:26508930

  15. 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…

  16. [Nodular regenerative hyperplasia following liver tuberculosis].

    PubMed

    Boursier, Jérôme; Foulet, Armelle; Pilette, Christophe

    2005-10-01

    We reported a case of nodular regenerative hyperplasia revealed by hemorrhage from portal hypertention and ascites in a 81 years old patient. This patient presented two years ago hepatic tuberculosis well documented by liver biopsy. If this patient do not have exhaustive etiologic research of nodular regenerative hyperplasia, the relationship between the tuberculosis infection and the developpement of this nodular regenerative hyperplasia appears highly probable and must be researched. PMID:16435515

  17. 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

  18. 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

  19. An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions.

    PubMed

    Matsuoka, Takeshi; Fujii, Naoki; Kondo, Akira; Iwaki, Akiko; Hokonohara, Toshihiro; Honda, Hiroyuki; Sasaki, Kensuke; Suzuki, Satoshi O; Iwaki, Toru

    2011-02-01

    Basophilic inclusions (BIs), which are characterized by their staining properties of being weakly argyrophilic, reactive with Nissl staining, and immunohistochemically negative for tau and transactive response (TAR) DNA-binding protein 43 (TDP-43), have been identified in patients with juvenile-onset amyotrophic lateral sclerosis (ALS) and adult-onset atypical ALS with ophthalmoplegia, autonomic dysfunction, cerebellar ataxia, or a frontal lobe syndrome. Mutations in the fused in sarcoma gene (FUS) have been reported in cases of familial and sporadic ALS, and FUS immunoreactivity has been demonstrated in basophilic inclusion body disease (BIBD), neuronal intermediate filament inclusion disease (NIFID), and atypical frontotemporal lobar degeneration with ubiquitin-positive and tau-negative inclusions (aFTLD-U). In the present study, we immunohistochemically and ultrastructurally studied an autopsy case of sporadic adult-onset ALS with numerous BIs. The patient presented with the classical clinical course of ALS since 75 years of age and died at age 79. Postmortem examination revealed that both Betz cells in the motor cortex and motor neurons in the spinal cord were affected. The substantia nigra was spared. Notably, BIs were frequently observed in the motor neurons of the anterior horns, the inferior olivary nuclei, and the basal nuclei of Meynert. BIs were immunopositive for p62, LC3, and FUS, but immunonegative for tau, TDP-43, and neurofilament. Ultrastructurally, BIs consisted of filamentous or granular structures associated with degenerated organelles with no limiting membrane. There were no Bunina bodies, skein-like inclusions, or Lewy-like inclusions. All exons and exon/intron boundaries of the FUS gene were sequenced but no mutations were identified. PMID:20573033

  20. 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

  1. 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

  2. Nodular fasciitis with degeneration and regression.

    PubMed

    Yanagisawa, Akihiro; Okada, Hideki

    2008-07-01

    Nodular fasciitis is a benign reactive proliferation that is frequently misdiagnosed as a sarcoma. This article describes a case of nodular fasciitis of 6-month duration located in the cheek, which degenerated and spontaneously regressed after biopsy. The nodule was fixed to the zygoma but was free from the overlying skin. The mass was 3.0 cm in diameter and demonstrated high signal intensity on T2-weighted magnetic resonance imaging. A small part of the lesion was biopsied. Pathological and immunohistochemical examinations identified the nodule as nodular fasciitis with myxoid histology. One month after the biopsy, the mass showed decreased signal intensity on T2-weighted images and measured 2.2 cm in size. The signal on T2-weighted images showed time-dependent decreases, and the mass continued to reduce in size throughout the follow-up period. The lesion presented as hypointense to the surrounding muscles on T2-weighted images and was 0.4 cm in size at 2 years of follow-up. This case demonstrates that nodular fasciitis with myxoid histology can change to that with fibrous appearance gradually with time, thus bringing about spontaneous regression. Degeneration may be involved in the spontaneous regression of nodular fasciitis with myxoid appearance. The mechanism of regression, unclarified at present, should be further studied. PMID:18650753

  3. Acute inflammation alters adult hippocampal neurogenesis in a multiple sclerosis mouse model.

    PubMed

    Giannakopoulou, A; Grigoriadis, N; Bekiari, C; Lourbopoulos, A; Dori, I; Tsingotjidou, A S; Michaloudi, H; Papadopoulos, G C

    2013-07-01

    Neural precursor cells (NPCs) located in the subgranular zone (SGZ) of the dentate gyrus (DG) give rise to thousands of new cells every day, mainly hippocampal neurons, which are integrated into existing neuronal circuits. Aging and chronic degenerative disorders have been shown to impair hippocampal neurogenesis, but the consequence of inflammation is somewhat controversial. The present study demonstrates that the inflammatory environment prevailing in the brain of experimental autoimmune encephalomyelitis (EAE) mice enhances the proliferation of NPCs in SGZ of the dorsal DG and alters the proportion between radial glial cells and newborn neuroblasts. The injection protocol of the cell cycle marker bromodeoxyuridine and the immunohistochemical techniques that were employed revealed that the proliferation of NPCs is increased approximately twofold in the SGZ of the dorsal DG of EAE mice, at the acute phase of the disease. However, although EAE animals exhibited significant higher percentage of newborn radial-glia-like NPCs, the mean percentage of newborn neuroblasts rather was decreased, indicating that the robust NPCs proliferation is not followed by a proportional production of newborn neurons. Significant positive correlations were detected between the number of proliferating cells in the SGZ and the clinical score or degree of brain inflammation of diseased animals. Finally, enhanced neuroproliferation in the acute phase of EAE was not found to trigger compensatory apoptotic mechanisms. The possible causes of altered neurogenesis observed in this study emphasize the need to understand more precisely the mechanisms regulating adult neurogenesis under both normal and pathological conditions. PMID:23606574

  4. 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 ...

  5. Lichen Sclerosis

    MedlinePlus

    ... of lichen sclerosis is unknown. Scientists have different theories to try to explain the cause, including an overactive immune system, genetic traits, or changes in hormones. Since lichen sclerosis is not caused ...

  6. Multiple Sclerosis

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Multiple Sclerosis Information Page Condensed from Multiple Sclerosis: Hope Through ... en Español Additional resources from MedlinePlus What is Multiple Sclerosis? An unpredictable disease of the central nervous system, ...

  7. Immediate Effect of Xylitol Chewing Gum and Mouth Rinse on Salivary Levels of Mutans Streptococci in Adults with Systemic Sclerosis: A Pilot Study

    PubMed Central

    Yuen, Hon K.; Westwater, Caroline; DeGarmo, Justin; Bandyopadhyay, Dipankar

    2013-01-01

    Objective To compare the immediate effect of xylitol chewing gum and xylitol mouth rinse on mutans streptococci (MS) levels in the saliva of adults with systemic sclerosis (SSc). Methods Thirteen female adults with SSc were assigned randomly to either the xylitol chewing gum or xylitol mouth rinse groups. Participants in the chewing gum group were given 2 pellets (2.12g) of commercial xylitol chewing gum to chew for 10 min; whereas participants in the mouth rinse group were given 10 ml (10% [w/v]) of xylitol solution to rinse orally for 2 min. MS samples were collected using Dentocult® SM Strip mutans before and after xylitol exposure. Results No significant difference in the change scores of MS levels between the two groups was observed at post xylitol exposure. Conclusions Mouth rinse may provide an alternative mode of xylitol delivery for this population. PMID:24532975

  8. [Retroperitoneal nodular fasciitis: analysis of a case].

    PubMed

    Fabbro, M A; Costa, L; Cimaglia, M L; Donadio, P; Spata, E; Dante, S

    1995-01-01

    A case of nodular fasciitis occurring in a 14-year-old girl is described and the clinical-pathological profile and the diagnostic problems are analyzed. The Authors believe this report useful to be reported for the relative rarity of the disease, especially in children, the very great dimension and the unusual retroperitoneal localization. PMID:8685002

  9. 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

  10. Nodular tertiary syphilis in an immunocompetent patient.

    PubMed

    Bittencourt, Maraya de Jesus Semblano; Brito, Arival Cardoso de; 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

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

    ClinicalTrials.gov

    2016-07-15

    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

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

    ClinicalTrials.gov

    2016-07-15

    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

  13. Nodular fasciitis on temple area resulting in surgical trauma.

    PubMed

    Choi, Hwan Jun; Jung, Kyu Hwa; Lee, Hyun Ju

    2014-11-01

    Nodular fasciitis (NF) is a pseudosarcomatous reactive proliferative lesion that commonly occurs as a solitary, well-circumscribed, painful, rapidly growing soft tissue mass. It appears at any age, but incidence peaks in the third decade, with a slight predilection for women. It is most commonly located on the extremities, followed by the chest and trunk. Although a common site in the pediatric population, NF is found on the head and neck only in 7% to 20% in the adult population and includes the cheek, parotid region, zygoma, periorbital area, eyelid, forehead, and intraoral sites. The cause of NF is unknown, but an association with trauma may be present. A case of NF over the temple area in a 28-year-old man who has no trauma history but has surgical incisional biopsy history and tenderness on palpation is reported. PMID:25364967

  14. 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. PMID:27496311

  15. Nodular pulmonary amyloidosis associated with asbestos exposure.

    PubMed

    Hiroshima, K; Ohwada, H; Ishibashi, M; Yamamoto, N; Tamiya, N; Yamaguchi, Y

    1996-01-01

    A 71 year old man was admitted for the purpose of diagnosis of a right solitary pulmonary nodule. The size of the nodule was 18 x 18 mm in diameter 2 years ago, but it has become large, 25 x 25 mm in diameter. The nodule was resected by thoracotomy. Microscopically, eosinophilic amorphous, acellular substances were surrounded by inflammatory infiltrates. It stained with Congo red stain and showed green birefringence with polarizing microscopy. Amyloid fibrils were observed electron microscopically. Asbestos bodies were observed in the lung parenchyma around the nodule. This case shows that a nodule in nodular pulmonary amyloidosis can grow gradually and suggests the possibility of asbestos fibers as one of the etiologic factors in nodular pulmonary amyloidosis. PMID:10846552

  16. Nodular secondary syphilis in a woman.

    PubMed

    Glatz, M; Achermann, Y; Kerl, K; Bosshard, P P; Cozzio, A

    2013-01-01

    We report the case of a 21-year-old woman with symmetrically distributed, ulcerated nodules and plaques on the face, neck and arms. Initial differential diagnoses included pyoderma or sarcoidosis based on the clinical presentation and histopathology with non-caseating granulomas. After inefficient treatment with topical and systemic fusidic acid and steroids, we diagnosed nodular secondary syphilis owing to positive serology and immunohistochemical staining of Treponema pallidum in lesional skin. After treatment with benzathine penicillin, skin lesions improved and antibody titres declined significantly within 3 months. Nodular skin lesions in secondary syphilis are rare with 15 reported cases within the last 20 years. Furthermore, the granulomatous histology is often misleading. Our patient's case suggests that the physicians should be aware of syphilis as a possible differential diagnosis also in patients outside a high-risk population for sexually transmitted diseases and with an unusual clinical presentation. PMID:23661656

  17. 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.

  18. Unusual late nodular presentation of secondary syphilis.

    PubMed

    Lanjouw, E; van der Meijden, W I; den Hollander, J C; Neumann, H A M

    2009-04-01

    A 20-year-old man presented with a five-week history of an eruption of papules and nodules disseminated over his body and face. We propose that this patient has a late form of secondary syphilis with a nodular, granulomatous inflammation in urgent need of treatment. Otherwise late irreversible sequelae could develop and unwanted possible further sexual transmission could take place. PMID:19304976

  19. Idiopathic nodular glomerulosclerosis in a never-smoking, normotensive, non-obese, normal-glucose-tolerant middle-aged woman.

    PubMed

    Uchida, Takahiro; Oda, Takashi; Watanabe, Atsushi; Higashi, Keishi; Katsurada, Yuka; Shimazaki, Hideyuki; Tamai, Seiichi; Kumagai, Hiroo

    2012-10-01

    A 53-year-old woman with a history of dyslipidemia presented with medium-grade proteinuria and several years of progressive renal dysfunction. Renal biopsy showed diffuse and global Kimmelstiel-Wilson nodule like nodular mesangial sclerosis, but she had no history of diabetes mellitus, no diabetic retinopathy and normal oral glucose tolerance. Congo red staining was negative, and immunofluorescence staining showed no immunoglobulin deposition including kappa or lambda light chains. Electron microscopy showed no electron dense deposits or organized deposits. Thus, we diagnosed idiopathic nodular glomerulosclerosis (ING). ING is a recently established clinicopathologic disease entity linked to longstanding cigarette smoking and hypertension. Obesity is also listed as a contributing factor. However, none of these factors was documented in this case. This is a valuable case of ING that suggests the existence of as-yet unknown causative factors of ING other than smoking, hypertention or obesity. PMID:26019825

  20. Therapeutic considerations for severe nodular acne.

    PubMed

    Newman, Marissa D; Bowe, Whitney P; Heughebaert, Carol; Shalita, Alan R

    2011-02-01

    Severe nodular acne, defined as grade 4 or 5 acne on the Investigator's Static Global Assessment scale, is a skin condition characterized by intense erythema, inflammation, nodules, cysts, and scarring. Both the well known risk of physical scarring and the more recent recognition that acne can be a chronic, psychologically distressing disease with significant adverse effects on a patient's quality of life, have prompted earlier, more aggressive treatment with more effective medications, in the hope of preventing progression to more severe, nodular forms of the disease. Oral antibacterials, primarily tetracyclines, have long been the first-line therapy for severe nodular acne, which frequently remained refractory to therapy. However, concerns of antibacterial adverse effects, patient adherence, and antimicrobial resistance prompted the search for alternate therapies and combinations thereof in order to target the multifactorial pathogenesis of the disease. Isotretinoin, an oral retinoid introduced in 1982, has since become the gold standard therapy in severe acne and has revolutionized its treatment. Several adjunctive agents exist. Oral antibacterials are indicated as an alternative for patients with severe acne who cannot tolerate oral retinoids, or for whom a contraindication exists. In order to prevent bacterial resistance, antibacterials should always be used in combination with benzoyl peroxide, a nonantibiotic antimicrobial agent with anti-inflammatory activity. Topical retinoids are often added to this regimen. In women, hormonal agents, which include oral contraceptives, spironolactone, and oral corticosteroids, and, in Europe, cyproterone acetate, may be used as monotherapy or concomitantly with isotretinoin. For rapid treatment of inflammatory nodules, intralesional corticosteroids are effective. These treatment modalities have been studied, refined, and combined in novel ways in order to target the multifactorial pathogenesis of the disease, and in this

  1. Nodular amyloidosis derived from keratinocytes: an unusual type of primary localized cutaneous nodular amyloidosis.

    PubMed

    Cornejo, Kristine M; Lagana, Frances J; Deng, April

    2015-11-01

    Primary, localized cutaneous amyloidosis includes macular, lichen, and nodular (tumefactive) types in which the amyloid deposits are limited to the dermis without systemic involvement. The material in lichen and macular amyloidosis is derived from epidermal keratinocytes [keratinocyte-derived amyloid (AK)], whereas that in nodular amyloidosis is derived from immunoglobulin light-chains amyloid (AL). Primary, localized cutaneous nodular amyloidosis (PLCNA) is a form of primary, localized cutaneous amyloidosis that has been associated with a risk of progression to systemic amyloidosis. We report an unusual case of nodular AK-type amyloid deposited in the dermis of the feet. The patient is a 60-year-old woman with asymptomatic verrucoid-like lesions present around the medial and lateral aspects of the bilateral heels for 1-2 years. A biopsy showed massive deposition of eosinophilic amorphous material in the papillary and reticular dermis. The material stained positive for Congo red with apple-green birefringence on polarized light. It was also positive for pan-cytokeratin and negative for kappa and lambda light-chain immunostains. An extensive workup was negative for systemic involvement. Lipid chromatography tandem mass spectrometry confirmed that the deposition was AK-type amyloid. We believe that this is the first case of PLCNA with AK deposition. This entity should be included in the differential diagnosis of PLCNA so that an extensive systemic workup may be avoided. PMID:26485243

  2. Multiple Sclerosis

    MedlinePlus

    Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the ... and your body, leading to the symptoms of MS. They can include Visual disturbances Muscle weakness Trouble ...

  3. Tuberous sclerosis

    MedlinePlus

    ... sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, and heart. The condition can also cause tumors to grow in the brain. These tumors have a tuber- or root-shaped appearance.

  4. Multiple Sclerosis

    PubMed Central

    Hashimoto, S.A.; Jiwa, Theresa I.

    1991-01-01

    Successful management of patients with multiple sclerosis depends upon the involvement of the family physician. All contacts with either a multiple sclerosis clinic or a neurologist should be made at the instigation of the family practitioner. Constant contact with the family physician ensures that the individual receives proper care. While specialty care is needed for many of the symptoms, psychosocial problems are dealt with best by the individual's own family physician. PMID:21229090

  5. Rare cause of pleural nodularity: Splenosis.

    PubMed Central

    Gezer, Suat; Gülhan, S. S. Erkmen; Altinok, Tamer; Agaçkiran, Yetkin; Tastepe, A. Irfan

    2006-01-01

    Splenosis is a rare condition described as ectopic splenic tissue implantation generally after a splenic rupture. A 35-year-old male patient who had a history of splenectomy operation due to gunshot wound seven years ago was referred to our hospital with complaints, including exhaustion, sweating and shortness of breath. Thoracic computed tomography of the patient showed nodular pleural thickenings at the level of the left lower lobe, which proved to be unrelated with the presenting symptoms. The patient underwent a minithoracotomy for diagnosis and treatment. During the intraoperative observation, dark-colored, soft, multiple nodular lesions with a biggest size of 2 cm inside the visceral pleura over an area of 5 x 10 cm in dimension were observed. Also, a few tiny nodules in the lung parenchyma approximately 1-cm deep to the pleural nodules were palpated. The lesions were excised. The histopathological examination of the specimen showed splenic tissue in the lung parenchyma and pleura, so the lesions were accepted as splenosis. Pleuropulmonary splenosis, which develops generally after simultaneous rupture of the diaphragma and spleen, is a very rare condition. Most of the patients are asymptomatic and the lesions are detected accidentally. If the diagnosis can be made preoperatively, surgical excision is not needed. Images Figure 1 Figure 2 PMID:16916134

  6. Suppression of T Cell Activation and Collagen Accumulation by an Anti-IFNAR1 mAb, Anifrolumab, in Adult Patients with Systemic Sclerosis.

    PubMed

    Guo, Xiang; Higgs, Brandon W; Bay-Jensen, Anne C; Karsdal, Morten A; Yao, Yihong; Roskos, Lorin K; White, Wendy I

    2015-10-01

    Type I IFNs are implicated in the pathophysiology of systemic sclerosis (SSc). Recently, a Phase I open-label trial was conducted with an anti-IFNAR1 receptor antibody (anifrolumab) in adult SSc patients. In this study, we aim to assess the downstream effects of anifrolumab and elucidate the role of type I IFN in SSc. Serum proteins and extracellular matrix (ECM) markers were measured in relation to IFN pathway activation status and SSc disease activity. Our results demonstrated a robust overexpression of multiple serum proteins in SSc patients, particularly those with an elevated baseline type I IFN gene signature. Anifrolumab administration was associated with significant downregulation of T cell-associated proteins and upregulation of type III collagen degradation marker. Whole-blood and skin microarray results also indicated the inhibition of T cell receptor and ECM-related transcripts by anifrolumab. In summary, our study demonstrates suppressive effects of anifrolumab on T cell activation and collagen accumulation through which tissue fibrosis may be reduced in SSc patients. The relationship between these peripheral markers and the clinical response to anifrolumab may be examined in larger double-blind, placebo-controlled trials. PMID:25993119

  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. 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…

  9. Retroperitoneal nodular fasciitis: magnetic resonance imaging (MRI) and pathological features.

    PubMed

    Meduri; Zuiani; Del Frate C; Bazzocchi

    1998-07-01

    A case of pelvic nodular fasciitis, with particular reference to its peculiar radiological and pathological features is described. Only a few cases of pelvic nodular fasciitis are reported in the English literature and at the best of our knowledge, this is the first case of retroperitoneal origin. This report discusses the role of MRI in the characterization of soft tissue masses. No specific MRI findings of nodular fasciitis were identified and MRI doesn't add any contribution to the differential diagnosis between benign and malignant lesions. As a consequence, the histopathological examination is necessary for a definitive diagnosis. PMID:10358366

  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. Clinically Significant Fatigue: Prevalence and Associated Factors in an International Sample of Adults with Multiple Sclerosis Recruited via the Internet

    PubMed Central

    Weiland, Tracey J.; Jelinek, George A.; Marck, Claudia H.; Hadgkiss, Emily J.; van der Meer, Dania M.; Pereira, Naresh G.; Taylor, Keryn L.

    2015-01-01

    Background Fatigue contributes a significant burden of disease for people with multiple sclerosis (PwMS). Modifiable lifestyle factors have been recognized as having a role in a range of morbidity outcomes in PwMS. There is significant potential to prevent and treat fatigue in PwMS by addressing modifiable risk factors. Objectives To explore the associations between clinically significant fatigue and demographic factors, clinical factors (health-related quality of life, disability and relapse rate) and modifiable lifestyle, disease-modifying drugs (DMD) and supplement use in a large international sample of PwMS. Methods PwMS were recruited to the study via Web 2.0 platforms and completed a comprehensive survey measuring demographic, lifestyle and clinical characteristics, including health-related quality of life, disability, and relapse rate. Results Of 2469 participants with confirmed MS, 2138 (86.6%) completed a validated measure of clinically significant fatigue, the Fatigue Severity Scale. Participants were predominantly female from English speaking countries, with relatively high levels of education, and due to recruitment methods may have been highly pro-active about engaging in lifestyle management and self-help. Approximately two thirds of our sample (1402/2138; 65.6% (95% CI 63.7–67.7)) screened positive for clinically significant fatigue. Bivariate associations were present between clinically significant fatigue and several demographic, clinical, lifestyle, and medication variables. After controlling for level of disability and a range of stable socio-demographic variables, we found increased odds of fatigue associated with obesity, DMD use, poor diet, and reduced odds of fatigue with exercise, fish consumption, moderate alcohol use, and supplementation with vitamin D and flaxseed oil. Conclusion This study supports strong and significant associations between clinically significant fatigue and modifiable lifestyle factors. Longitudinal follow-up of this

  12. Nodular fasciitis of the oro-facial region.

    PubMed

    Subramaniam, Priya; Balakrishna, Ramdas; Mahendra, P; Gilhotra, K

    2012-04-01

    Nodular fasciitis is a benign proliferative spindle-cell lesion that presents as a rapidly growing mass frequently being mistaken for a sarcoma. A rare presentation and treatment of nodular fasciitis in the cheek of an 8-year-old boy is described here. He came with a chief complaint of swelling in the left cheek since 1 month which rapidly increased to the size of a marble, over a period of 1 month. Surgical excision of the lesion was planned under general anesthesia following which the surgical site was closed with resorbable sutures. Based on the history, clinical picture, and histopathological examination, the lesion was diagnosed as nodular fasciitis. Although infrequent in both children and the oral mucosa, nodular fasciitis should be considered in the differential diagnosis of facial tumors in infants and young children. PMID:22629057

  13. Progressive Nodular Histiocytosis Associated with Eale's Disease

    PubMed Central

    Williams, Abhilasha; Thomas, Abraham G; Kwatra, Kanwardeep Singh; Jain, Kunal

    2015-01-01

    Progressive nodular histiocytosis (PNH) is a rare normolipemic macrophage disorder and belongs to a subgroup of non-Langerhans cell histiocytosis (LCHs) which is characterized by a progressive course with no sign of spontaneous resolution but without systemic involvement. We report a 30-year-old gentleman who presented with skin lesions all over the body associated with gradual bilateral painless loss of vision. On examination, approximately 30 to 40, skin-colored, firm, non-tender papules and nodules were noted over the body especially on the face and trunk. A skin biopsy revealed a cellular tumor in the dermis composed of oval to spindle-shaped cells, positive for CD68 but negative for S-100, CD34, CD21, CD35 and HMB45, supporting a diagnosis of spindle cell histiocytic tumor. Ophthalmic examination revealed a generalized arteriolar attenuation in both eyes. He received Tab Imatinib 400 mg OD for 5 months followed by Tab Pazopanib 800 mg OD for 4 months and both the drugs were stopped due to lack of any response in the skin lesions. We report this case due to its rarity, characteristic clinical presentation, and its association with Eale's disease. Primary treatment remains surgical excision of bothersome lesions and optimal systemic treatment is still unknown. PMID:26288410

  14. FLNA genomic rearrangements cause periventricular nodular heterotopia

    PubMed Central

    Clapham, K.R.; Yu, T.W.; Ganesh, V.S.; Barry, B.; Chan, Y.; Mei, D.; Parrini, E.; Funalot, B.; Dupuis, L.; Nezarati, M.M.; du Souich, C.; van Karnebeek, C.

    2012-01-01

    Objective: To identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for whom FLNA sequencing is negative. Methods: Screening of 35 patients from 33 pedigrees on an Affymetrix 6.0 microarray led to the identification of one individual bearing a CNV that disrupted FLNA. FLNA-disrupting CNVs were also isolated in 2 other individuals by multiplex ligation probe amplification. These 3 cases were further characterized by high-resolution oligo array comparative genomic hybridization (CGH), and the precise junctional breakpoints of the rearrangements were identified by PCR amplification and sequencing. Results: We report 3 cases of PNH caused by nonrecurrent genomic rearrangements that disrupt one copy of FLNA. The first individual carried a 113-kb deletion that removes all but the first exon of FLNA. A second patient harbored a complex rearrangement including a deletion of the 3′ end of FLNA accompanied by a partial duplication event. A third patient bore a 39-kb deletion encompassing all of FLNA and the neighboring gene EMD. High-resolution oligo array CGH of the FLNA locus suggests distinct molecular mechanisms for each of these rearrangements, and implicates nearby low copy repeats in their pathogenesis. Conclusions: These results demonstrate that FLNA is prone to pathogenic rearrangements, and highlight the importance of screening for CNVs in individuals with PNH lacking FLNA point mutations. Neurology® 2012;78:269–278 PMID:22238415

  15. RSK1 Activation Promotes Invasion in Nodular Melanoma

    PubMed Central

    Salhi, Amel; Farhadian, Joshua A.; Giles, Keith M.; Vega-Saenz de Miera, Eleazar; Silva, Ines P.; Bourque, Caitlin; Yeh, Karen; Chhangawala, Sagar; Wang, Jinhua; Ye, Fei; Zhang, David Y.; Hernando-Monge, Eva; Houvras, Yariv; Osman, Iman

    2016-01-01

    The two major melanoma histologic subtypes, superficial spreading and nodular melanomas, differ in their speed of dermal invasion but converge biologically once they invade and metastasize. Herein, we tested the hypothesis that distinct molecular alterations arising in primary melanoma cells might persist as these tumors progress to invasion and metastasis. Ribosomal protein S6 kinase, 90 kDa, polypeptide 1 (RSK1; official name RPS6KA1) was significantly hyperactivated in human melanoma lines and metastatic tissues derived from nodular compared with superficial spreading melanoma. RSK1 was constitutively phosphorylated at Ser-380 in nodular but not superficial spreading melanoma and did not directly correlate with BRAF or MEK activation. Nodular melanoma cells were more sensitive to RSK1 inhibition using siRNA and the pharmacological inhibitor BI-D1870 compared with superficial spreading cells. Gene expression microarray analyses revealed that RSK1 orchestrated a program of gene expression that promoted cell motility and invasion. Differential overexpression of the prometastatic matrix metalloproteinase 8 and tissue inhibitor of metalloproteinases 1 in metastatic nodular compared with metastatic superficial spreading melanoma was observed. Finally, using an in vivo zebrafish model, constitutive RSK1 activation increased melanoma invasion. Together, these data reveal a novel role for activated RSK1 in the progression of nodular melanoma and suggest that melanoma originating from different histologic subtypes may be biologically distinct and that these differences are maintained as the tumors invade and metastasize. PMID:25579842

  16. Hepatocellular carcinoma in a patient with focal nodular hyperplasia

    PubMed Central

    Lowell, Jeffrey A; Hassan, Anjum; Howard, Todd K

    2002-01-01

    Background Focal nodular hyperplasia is an uncommon liver tumour that typically requires no therapeutic intervention. Case outline A 43-year-old woman with a 20-year history of oral contraceptive use presented with symptomatic bilateral liver masses. Biopsy revealed hepatocellular carcinoma in the right hemiliver and focal nodular hyperplasia in the left hemiliver.At operation,the patient was noted to have multiple liver nodules bilaterally, and all intraoperative biopsies were consistent with focal nodular hyperplasia including a biopsy taken from the region that demonstrated carcinoma preoperatively. Because of the earlier biopsy results and the patient's preoperative symptoms, a right hemihepatectomy was performed. Final pathology revealed hepatocellular carcinoma directly adjacent to an area of focal nodular hyperplasia, as well as multiple other areas of hyperplastic liver tumour. Discussion Although focal nodular hyperplasia is believed to be benign, few studies have followed patients with this tumour beyond three years. Longer-term follow-up studies are needed to determine the natural history of focal nodular hyperplasia, potentially focussing on a subset of patients with either diffuse tumours or prolonged oral contraceptive use. PMID:18332941

  17. RSK1 activation promotes invasion in nodular melanoma.

    PubMed

    Salhi, Amel; Farhadian, Joshua A; Giles, Keith M; Vega-Saenz de Miera, Eleazar; Silva, Ines P; Bourque, Caitlin; Yeh, Karen; Chhangawala, Sagar; Wang, Jinhua; Ye, Fei; Zhang, David Y; Hernando-Monge, Eva; Houvras, Yariv; Osman, Iman

    2015-03-01

    The two major melanoma histologic subtypes, superficial spreading and nodular melanomas, differ in their speed of dermal invasion but converge biologically once they invade and metastasize. Herein, we tested the hypothesis that distinct molecular alterations arising in primary melanoma cells might persist as these tumors progress to invasion and metastasis. Ribosomal protein S6 kinase, 90 kDa, polypeptide 1 (RSK1; official name RPS6KA1) was significantly hyperactivated in human melanoma lines and metastatic tissues derived from nodular compared with superficial spreading melanoma. RSK1 was constitutively phosphorylated at Ser-380 in nodular but not superficial spreading melanoma and did not directly correlate with BRAF or MEK activation. Nodular melanoma cells were more sensitive to RSK1 inhibition using siRNA and the pharmacological inhibitor BI-D1870 compared with superficial spreading cells. Gene expression microarray analyses revealed that RSK1 orchestrated a program of gene expression that promoted cell motility and invasion. Differential overexpression of the prometastatic matrix metalloproteinase 8 and tissue inhibitor of metalloproteinases 1 in metastatic nodular compared with metastatic superficial spreading melanoma was observed. Finally, using an in vivo zebrafish model, constitutive RSK1 activation increased melanoma invasion. Together, these data reveal a novel role for activated RSK1 in the progression of nodular melanoma and suggest that melanoma originating from different histologic subtypes may be biologically distinct and that these differences are maintained as the tumors invade and metastasize. PMID:25579842

  18. 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).

  19. 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

  20. 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.

  1. 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. PMID:25979578

  2. Nodular regenerative hyperplasia of the liver in children.

    PubMed

    Moran, C A; Mullick, F G; Ishak, K G

    1991-05-01

    Sixteen cases of nodular regenerative hyperplasia of the liver in children are presented. The patients, 10 girls and 6 boys, were between the ages of 7 months and 13 years, with a median of 6 years. Clinically, nine children presented with hepatomegaly or splenomegaly, with and without signs of portal hypertension. A history of anticonvulsant drug therapy was obtained in four patients. Associated conditions in the remaining three cases were Donohue's syndrome, disseminated intravascular coagulation, and angiomyolipoma of the kidney. In five patients a clinical diagnosis of primary intra-abdominal tumor was made. Follow-up showed that six patients died of causes unrelated to the nodular hyperplasia. Two patients were asymptomatic when last seen 5 and 18 years after the initial diagnosis of nodular hyperplasia. Both patients underwent shunt surgery. No follow-up was available for eight patients. The importance of recognizing this entity in the pediatric age group, as well as its histopathologic differential diagnosis, is stressed. PMID:2035739

  3. "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…

  4. Expectant management of focal nodular hyperplasia during pregnancy. A case report.

    PubMed

    Kivnick, S; Greenspoon, J S; Kanter, M H; Gee, C; Fullman, H J

    1992-04-01

    A patient with unresectable focal nodular hyperplasia of the liver completed an uncomplicated pregnancy. Although there is a risk of hepatic rupture during pregnancy, expectant management may be an option for some cases of focal nodular hyperplasia. PMID:1593563

  5. Hippocampal Sclerosis: Causes and Prevention.

    PubMed

    Walker, Matthew Charles

    2015-06-01

    Hippocampal sclerosis is the commonest cause of drug-resistant epilepsy in adults, and is associated with alterations to structures and networks beyond the hippocampus.In addition to being a cause of epilepsy, the hippocampus is vulnerable to damage from seizure activity. In particular, prolonged seizures (status epilepticus) can result in hippocampal sclerosis. The hippocampus is also vulnerable to other insults including traumatic brain injury, and inflammation. Hippocampal sclerosis can occur in association with other brain lesions; the prevailing view is that it is probably a secondary consequence. In such instances, successful surgical treatment usually involves the resection of both the lesion and the involved hippocampus. Experimental data have pointed to numerous neuroprotective strategies to prevent hippocampal sclerosis. Initial neuroprotective strategies aimed at glutamate receptors may be effective, but later, metabolic pathways, apoptosis, reactive oxygen species, and inflammation are involved, perhaps necessitating the use of interventions aimed at multiple targets. Some of the therapies that we use to treat status epilepticus may neuroprotect. However, prevention of neuronal death does not necessarily prevent the later development of epilepsy or cognitive deficits. Perhaps, the most important intervention is the early, aggressive treatment of seizure activity, and the prevention of prolonged seizures. PMID:26060898

  6. Human Brain Atlas-based Multimodal MRI Analysis of Volumetry, Diffusimetry, Relaxometry and Lesion Distribution in Multiple Sclerosis Patients and Healthy Adult Controls: Implications for understanding the Pathogenesis of Multiple Sclerosis and Consolidation of Quantitative MRI Results in MS

    PubMed Central

    Hasan, Khader M.; Walimuni, Indika S.; Abid, Humaira; Datta, Sushmita; Wolinsky, Jerry S.; Narayana, Ponnada A.

    2011-01-01

    Multiple sclerosis (MS) is the most common immune-mediated disabling neurological disease of the central nervous system. The pathogenesis of MS is not fully understood. Histopathology implicates both demyelination and axonal degeneration as the major contributors to the accumulation of disability. The application of several in vivo quantitative magnetic resonance imaging (MRI) methods to both lesioned and normal-appearing brain tissue has not yet provided a solid conclusive support of the hypothesis that MS might be a diffuse disease. In this work, we adopted FreeSurfer to provide standardized macrostructure or volumetry of lesion free normal-appearing brain tissue in combination with multiple quantitative MRI metrics (T2 relaxation time, diffusion tensor anisotropy and diffusivities) that characterize tissue microstructural integrity. By incorporating a large number of healthy controls, we have attempted to separate the natural age-related change from the disease-induced effects. Our work shows elevation in diffusivity and relaxation times and reduction in volume in a number of normal-appearing white matter and gray matter structures in relapsing-remitting multiple sclerosis patients. These changes were related in part with the spatial distribution of lesions. The whole brain lesion load and age-adjusted expanded disability status score showed strongest correlations in regions such as corpus callosum with qMRI metrics that are believed to be specific markers of axonal dysfunction, consistent with histologic data of others indicating axonal loss that is independent of focal lesions. Our results support that MS at least in part has a neurodegenerative component. PMID:21978603

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

    ClinicalTrials.gov

    2016-04-07

    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

  8. Focal nodular hyperplasia of the liver: a link with sickle cell disease?

    PubMed Central

    Heaton, N D; Pain, J; Cowan, N C; Salisbury, J; Howard, E R

    1991-01-01

    Focal nodular hyperplasia is a benign liver tumour that is rare in children. We report the second case of a child with sickle cell disease presenting with symptomatic focal nodular hyperplasia. The possible pathogenesis of focal nodular hyperplasia and the association with sickle cell disease are discussed. Images Figure 1 Figure 2 Figure 3 PMID:1929517

  9. Microstructural aspects of zircaloy nodular corrosion in steam

    SciTech Connect

    Taylor, D.F.

    1999-07-01

    Zircaloy-2 becomes susceptible to nodular corrosion in high-temperature, high-pressure steam when the total solute concentration of the {beta}-stabilizing alloying elements Fe, Ni and Cr in the {alpha}-zirconium matrix falls below a critical value C{sub c} that is characteristic of the test conditions. C{sub c} for typical commercial Zircaloy-2 in a 24hr/510 C/10.4MPa steam-test is the precipitate-free a-matrix concentration in equilibrium with solute-saturated {beta} phase at about 840 C, the corresponding critical temperature T{sub c}.Thus, immunity to nodular corrosion is a metastable condition for {alpha}-Zircaloy that requires fast cooling from above T{sub c} to achieve adequate solute concentration throughout the matrix. Annealing Zircaloy at any temperature below T{sub c} for a sufficiently long time makes it susceptible to nodular corrosion. In the ({alpha}+{chi}) phase field, where {chi} collectively designates the Fe-, Cr-, and Ni-containing precipitate phases, lowering the solute concentration to less than C{sub c} by Ostwald ripening can require many hundreds of hours. Above about 825 C, the temperature of the ({alpha}+{chi})/({alpha}+{beta}+{chi}) transus, solute-saturated {beta} phase surrounds each precipitate and a strong inverse activity gradient promotes equilibration with the much lower solute concentration in the {alpha} matrix. Sensitization to nodular corrosion occurs most rapidly at about 835 C between the ({alpha}+{chi})/({alpha}+{beta}+{chi}) transus and T{sub c}. Annealing Zircaloy at temperatures above T{sub c} for a sufficiently long time will raise the solute concentration above C{sub c} and, with rapid cooling, heal any degree of susceptibility. Annealing within the protective coarsening window between T{sub c} and about 850 C, the temperature of the ({alpha}+{beta}+{chi})/({alpha}+{beta}) transus, achieves rapid precipitate growth in a matrix immune to nodular corrosion.

  10. Amyotrophic lateral sclerosis

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000688.htm Amyotrophic lateral sclerosis To use the sharing features on this page, please enable JavaScript. Amyotrophic lateral sclerosis, or ALS, is a disease of the nerve ...

  11. National Multiple Sclerosis Society

    MedlinePlus

    Home - National Multiple Sclerosis Society Skip to navigation Skip to content Menu Navigation National Multiple Sclerosis Society Sign In In Your Area ... DIAGNOSED IN 2009 You Can Live Well with MS A healthy diet, regular exercise, stress management and ...

  12. Fatigue and Multiple Sclerosis

    MedlinePlus

    Fatigue - National Multiple Sclerosis Society Skip to navigation Skip to content Menu Navigation National Multiple Sclerosis Society Sign In In Your Area ... help* daily life for: positive-mom* The National MS Society is Here to Help Need More Information? ...

  13. Multiple sclerosis - discharge

    MedlinePlus

    Your doctor has told you that you have multiple sclerosis. This disease affects the brain and spinal cord ( ... your doctor may prescribe medicine. Some people with multiple sclerosis need to use a urinary catheter . This is ...

  14. [Systemic sclerosis].

    PubMed

    Tamborrini, Giorgio; Distler, Meike; Distler, Oliver

    2008-05-01

    Systemic sclerosis (SSc) is a severe fibrotic multiorgan connective tissue disease. Vascular abnormalities such as fingertip ulcers and Raynaud's syndrome as well as involvement of organs including the lungs, heart, kidney and the gastrointestinal tract are prominent features of the disease. There are currently no disease modifying drugs available that can modify the course of the disease. In this review we will discuss medications that have been found to be effective in improving specific organ involvement due to SSc. For the treatment of gastroesophageal reflux disease (GERD), proton pump inhibitors are effective agents. In the setting of clinically significant gastrointestinal dysmotility, metoclopramide, erythromycin and octreotide may be beneficial. Small bowel bacterial overgrowth should be treated with oral antibiotics. Angiotensin converting enzyme inhibitors are the first-line agents for acute renal crisis. A variety of treatment options are available for Raynaud's phenomenon and include calcium channel blockers, iloprost (i. v.), losartan, fluoxetine and sildenafil. Fingertip ulcers can be prevented by using the endothelin receptor antagonist bosentan. The therapeutic options for treatment of pulmonary hypertension associated with SSc include bosentan, sildenafil and various prostacyclin analogs (eg, epoprostenol, treprostinil, iloprost). Sitaxentan, ambrisentan and new phosphodiesterase-5 inhibitors could be new options for therapy as well. Therapeutic options for interstitial lung fibrosis include cyclophosphamide, however, clinical effects are mild to moderate. Methotrexate has been used to treat skin fibrosis and can be beneficial when arthritis is present. PMID:18552072

  15. Multiple sclerosis.

    PubMed

    Filippi, Massimo; Preziosa, Paolo; Rocca, Maria A

    2016-01-01

    Due to its sensitivity to the different multiple sclerosis (MS)-related abnormalities, magnetic resonance imaging (MRI) has become an established tool to diagnose MS and to monitor its evolution. MRI has been included in the diagnostic workup of patients with clinically isolated syndromes suggestive of MS, and ad hoc criteria have been proposed and are regularly updated. In patients with definite MS, the ability of conventional MRI techniques to explain patients' clinical status and progression of disability is still suboptimal. Several advanced MRI-based technologies have been applied to estimate overall MS burden in the different phases of the disease. Their use has allowed the heterogeneity of MS pathology in focal lesions, normal-appearing white matter and gray matter to be graded in vivo. Recently, additional features of MS pathology, including macrophage infiltration and abnormal iron deposition, have become quantifiable. All of this, combined with functional imaging techniques, is improving our understanding of the mechanisms associated with MS evolution. In the near future, the use of ultrahigh-field systems is likely to provide additional insight into disease pathophysiology. However, the utility of advanced MRI techniques in clinical trial monitoring and in assessing individual patients' response to treatment still needs to be assessed. PMID:27432676

  16. Tuberculoid nodular thelitis in a dairy goat flock.

    PubMed

    Chartier, Christophe; Albaric, Olivier; Cesbron, Nora; Despres, Jérôme; Hoogveld, Charlotte; Michelet, Lorraine; Boschiroli, Maria-Laura

    2016-03-01

    An unusual outbreak of teat/udder skin lesions occurred in a dairy goat flock in France. Lesions first appeared as circular, indurated, erythematous areas of skin and progressed to form dark raised haemorrhagic crusts and ulcerative plaques. Histopathological examination revealed marked granulomatous dermatitis with multifocal ulceration. The granulomatous inflammation, with frequent Langhans type multinucleated cells and central caseous necrosis, was indicative of mycobacterial infection. The presence of non-cultivable mycobacteria was confirmed by sequencing PCR products from DNA extracted directly from the lesions and sequences matched a novel mycobacterial pathogen closely related to M. leprae and M. lepromatosis and previously identified in cattle thelitis. The association of nodular gross lesions and tuberculoid granulomas on the teat and lower udder, and the presence of mycobacteria DNA support a diagnosis of tuberculoid nodular thelitis in goats due to mycobacterial infection. PMID:26831157

  17. A case of giant nodular posterior scleritis mimicking choroidal malignancy

    PubMed Central

    Liu, Andrea T; Luk, Fiona O; Chan, Carmen K

    2015-01-01

    To report a case of giant nodular posterior scleritis mimicking a choroidal tumor. A 42-year-old lady with systemic hypertension presented with a 1-week history of unilateral visual loss, pain and redness in her left eye. Examination showed sectoral anterior episcleritis in her left eye as well as a dome-shaped choroidal mass at the inferior-temporal periphery, associated with retinal hemorrhages and subretinal fluid. Systemic evaluation and imaging of the choroidal mass were performed and could not rule out amelanotic choroidal melanoma. At the same time, she was prescribed a 2-week course of oral nonsteroidal anti-inflammatory drug (NSAID) for her sectoral anterior episcleritis. The choroidal mass was found to have resolved completely right before her scheduled fine needle biospy. Diagnosis of nodular posterior scleritis and a trial of oral NSAID can be considered in patients presenting with a choroidal mass before any invasive procedure. PMID:26862098

  18. Pictures of focal nodular hyperplasia and hepatocellular adenomas

    PubMed Central

    Sempoux, Christine; Balabaud, Charles; Bioulac-Sage, Paulette

    2014-01-01

    This practical atlas aims to help liver and non liver pathologists to recognize benign hepatocellular nodules on resected specimen. Macroscopic and microscopic views together with immunohistochemical stains illustrate typical and atypical aspects of focal nodular hyperplasia and of hepatocellular adenoma, including hepatocellular adenomas subtypes with references to clinical and imaging data. Each step is important to make a correct diagnosis. The specimen including the nodule and the non-tumoral liver should be sliced, photographed and all different looking areas adequately sampled for paraffin inclusion. Routine histology includes HE, trichrome and cytokeratin 7. Immunohistochemistry includes glutamine synthase and according to the above results additional markers such as liver fatty acid binding protein, C reactive protein and beta catenin may be realized to differentiate focal nodular hyperplasia from hepatocellular adenoma subtypes. Clues for differential diagnosis and pitfalls are explained and illustrated. PMID:25232451

  19. 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

  20. 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. PMID:25047199

  1. 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. PMID:26345076

  2. 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

  3. Solitary nodular lesion of tongue- a rare entity.

    PubMed

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

    2014-02-01

    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

  4. Genetics Home Reference: multiple sclerosis

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions multiple sclerosis multiple sclerosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Multiple sclerosis is a condition characterized by areas of damage ( ...

  5. 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

  6. Neurotherapeutic Strategies for Multiple Sclerosis.

    PubMed

    Frohman, Teresa C; Beh, Shin C; Kildebeck, Eric J; Narayan, Ram; Treadaway, Katherine; Greenberg, Benjamin; Frohman, Elliot M

    2016-08-01

    Multiple sclerosis (MS) is the most common disabling neurologic disease of young adults. There are now 16 US Food and Drug Administration (FDA)-approved disease-modifying therapies for MS as well as a cohort of other agents commonly used in practice when conventional therapies prove inadequate. This article discusses approved FDA therapies as well as commonly used practice-based therapies for MS, as well as those therapies that can be used in patients attempting to become pregnant, or in patients with an established pregnancy, who require concomitant treatment secondary to recalcitrant disease activity. PMID:27445239

  7. Pediatric Multiple Sclerosis.

    PubMed

    Lee, Ji Y; Chitnis, Tanuja

    2016-04-01

    Pediatric multiple sclerosis (MS) is a chronic inflammatory neurologic disease that is challenging to diagnose and treat. Although there are many clinical parallels between pediatric-onset MS and adult-onset MS, there is also accumulating evidence of distinguishing clinical features that may, in part, arise from development-specific, neuroimmune processes governing MS pathogenesis in children. Here the authors describe the clinical features, diagnosis, and treatment of pediatric MS, with a particular focus on describing clinical features and highlighting new developments that promise a better understanding of pediatric MS pathogenesis. An important task that lies ahead for pediatric neurologists is better understanding the early gene-environment interaction that precipitates the first demyelinating event in pediatric MS. This area is of particular importance for understanding the MS etiology and the natural history of pediatric MS. Such understanding should in turn inform new developments in diagnostic tools, long-term therapies, and much-needed biomarkers. Such biomarkers are not only valuable for defining the disease onset, but also for monitoring both the treatment response and a disease evolution that spans multiple decades in children with MS. PMID:27116721

  8. Tuberous sclerosis complex.

    PubMed

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

    2016-01-01

    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. PMID:27226234

  9. Immunopathogenesis of multiple sclerosis.

    PubMed

    Racke, Michael K

    2009-10-01

    Multiple sclerosis (MS) is a suspected autoimmune disease in which myelin-specific CD4+ and CD8+ T cells enter the central nervous system (CNS) and initiate an inflammatory response directed against myelin and other components of the CNS. Acute MS exacerbations are believed be the result of active inflammation, and progression of disability is generally believed to reflect accumulation of damage to the CNS, particularly axonal damage. Over the last several years, the pathophysiology of MS is being appreciated to be much more complex, and it appears that the development of the MS plaque involves a large number of cell populations, including CD8+ T lymphocytes, B cells, and Th17 cells (a population of helper T cells that secrete the inflammatory cytokine IL-17). The axonal transection and degeneration that is thought to represent the basis for progressive MS is now recognized to begin early in the disease process and to continue in the progressive forms of the disease. Molecules important for limiting aberrant neural connections in the CNS have been identified, which suppress axonal sprouting and regeneration of transected axons within the CNS. Pathways have also been identified that prevent remyelination of the MS lesion by oligodendrocyte precursors. Novel neuroimaging methodologies and potential biomarkers are being developed to monitor various aspects of the disease process in MS. As we identify the pathways responsible for the clinical phenomena of MS, we will be able to develop new therapeutic strategies for this disabling illness of young adults. PMID:20182567

  10. 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

  11. A biopsychosocial model of resilience for multiple sclerosis.

    PubMed

    Black, Rebecca; Dorstyn, Diana

    2015-11-01

    The concept of resilience remains under-researched in the multiple sclerosis literature. Consequently, current understanding of the unique and joint contribution of disability-specific variables, cognitive-behavioural skills and social resources to this dynamic process is limited. A holistic model of resilience was therefore developed and tested. Results of an online survey completed by 196 adults with multiple sclerosis revealed both direct and indirect pathways to resilience, with positive affect and self-efficacy being the strongest predictors. The findings lend support to psychological interventions which focus on promoting the personal resources and assets needed to cope effectively with multiple sclerosis. PMID:24323335

  12. Tuberous sclerosis complex coexistent with hippocampal sclerosis.

    PubMed

    Lang, Min; Prayson, Richard A

    2016-02-01

    Tuberous sclerosis and hippocampal sclerosis are both well-defined entities associated with medically intractable epilepsy. To our knowledge, there has been only one prior case of these two pathologies being co-existent. We report a 7-month-old boy who presented with intractable seizures at 2 months of age. MRI studies showed diffuse volume loss in the brain with bilateral, multiple cortical tubers and subcortical migration abnormalities. Subependymal nodules were noted without subependymal giant cell astrocytoma. Genetic testing revealed TSC2 and PRD gene deletions. Histopathology of the hippocampus showed CA1 sclerosis marked by loss of neurons in the CA1 region. Sections from the temporal, parietal and occipital lobes showed multiple cortical tubers characterized by cortical architectural disorganization, gliosis, calcifications and increased number of large balloon cells. Focal white matter balloon cells and spongiform changes were also present. The patient underwent resection of the right fronto-parietal lobe and a subsequent resection of the right temporal, parietal and occipital lobes. The patient is free of seizures on anti-epileptic medication 69 months after surgery. Although hippocampal sclerosis is well documented to be associated with coexistent focal cortical dysplasia, the specific co-existence of cortical tubers and hippocampal sclerosis appears to be rare. PMID:26498091

  13. 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

  14. 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).…

  15. Alpha-interferon in the treatment of nodular lymphomas.

    PubMed

    Urba, W J; Longo, D L

    1986-12-01

    Patients with nodular lymphoma initially respond to a number of therapies but relapse is common and inexorable with time, and despite further therapy, most patients will ultimately die of their lymphoma. The recent demonstration of their sensitivity to alpha-interferon is promising. The importance of this human antitumor effect is that it is presumably based on mechanisms different from conventional agents. Phase I trials of various doses and schedules of recombinant alpha-interferon have shown that effective serum levels can be obtained by intramuscular (IM), intravenous (IV), or subcutaneous (SC) routes. Virtually all patients experienced some degree of acute toxicity manifested by fever, chills, myalgia, and headache. Tolerance usually developed to acute adverse effects within the first few weeks of therapy, regardless of dose or schedule. Fatigue and anorexia were the most important adverse reactions, occurring during the first two weeks of treatment and generally persisting for the duration of therapy. Occasional adverse effects relating to the central nervous and cardiovascular systems have been reported. Primary laboratory abnormalities observed during treatment include decreases in hematologic parameters and elevations of liver function tests. The clinical efficacy of alpha-interferon, both natural and recombinant, has been demonstrated in both untreated and heavily pretreated patients with nodular lymphoma. The response rate has approached 50% in recent studies; however, less than half were complete responders. Future directions include combination of interferon with cytotoxic agents or other biological response modifiers and use as adjuvant therapy. PMID:3541218

  16. Nodular amyloidosis at the sites of insulin injections.

    PubMed

    Bernárdez, Claudia; Schärer, Leo; Molina-Ruiz, Ana María; Requena, Luis

    2015-07-01

    Amyloid is characterized by its fibrillary ultrastructure, and more than 20 proteins have been described to date as possible precursors. Among them, insulin and enfuvirtide represent the only medications described as amyloidogenic substances. We describe two diabetic patients, who were undergoing long-standing subcutaneous insulin treatment, who developed subcutaneous nodules at the sites of insulin injections. Histopathologic examination showed the presence of eosinophilic and amorphous masses in deep dermis, which stained positive with Congo red, amyloid P substance and anti-human insulin antibody. Whether the type of injected insulin played a role or not in the pathogenesis of the process is still uncertain, because all described patients used both fast-acting and slow-acting insulins at the same injection sites. Our second case showed nodular insulin-derived amyloid tumors only at the sites where exclusively fast-acting insulin was injected, which supports the notion that fast-acting insulin may also be the cause of this disorder. Insulin-derived nodular amyloidosis is probably underdiagnosed because of the small body of literature in comparison with the prevalence of insulin dependent diabetic patients. This underdiagnosis probably is because of its clinical similarity with the lesions of lipohypertrophy at the sites of insulin injections, which is rarely biopsied. PMID:25953111

  17. [Typing of infiltration cells in primary, localized, nodular, cutaneous amyloidosis].

    PubMed

    Sepp, N; Grünewald, K; Soyer, H P; Kerl, H; Breathnach, S M; Fritsch, P; Hintner, H

    1992-04-01

    Amyloid tumours in two patients with primary localized nodular cutaneous amyloidosis contained very dense infiltrates consisting mainly of plasma cells and lymphocytes. In one case IgM was detected on many cells of the infiltrate, while in the other IgA was found in morphologically apparently normal plasma cells. Immunohistochemical investigations did not reveal any immunoglobulin light chain restriction in either of the tumours. Numerous cells expressed B cell markers, such as CD20 or CD38. Rearrangement studies on material from the amyloid tumour of one of the patients confirmed the monoclonality of plasma cells. This observation indicates that the nodules of primary localized nodular cutaneous amyloidosis indeed represent an extramedullary plasmocytoma, which consists of amyloid-producing plasma cells. Of special interest was the unexpectedly high proportion of cells expressing T cell markers (CD3, CD5, CD4 greater than CD8) in the amyloid nodules of both patients. After excluding co-expression of B and T cell markers on identical cells by immunohistochemical studies on serial sections and also after molecular biological studies, we assume that this is a separate T cell population that may have a regulatory effect on the production of amyloid. PMID:1597370

  18. Accumulation of reactivity to MBP sensitizes TRAIL mediated oligodendrocyte apoptosis in adult sub cortical white matter in a model for human multiple sclerosis.

    PubMed

    Mir, Sajad; Ali, Farrah; Chauhan, Deepika; Arora, Rajesh; Khan, Haider A

    2016-04-01

    Reactivity to myelin associated proteins is the hallmark of human multiple sclerosis (M.S) and its experimental counterparts. However, the nature of such reactivity has not been described fully. Herein, we report that myelin basic protein (MBP) reactivity accumulates in a rat model for M.S. over a period of time and sensitizes TRAIL mediated progressive oligodendrocyte apoptosis. We used active immunization by Myelin Oligodendrocyte Glycoprotein (MOG, 50 μg) to study chronic remitting relapsing encephalomyelitis in rats. A time point analysis of the progressive disease revealed cumulative accumulation of anti myelin basic protein antibodies during the disease progression with minimal change in the anti-MOG antibodies. Increased reactivity to MBP was studied to sensitize TNF related apoptosis-inducing ligand (TRAIL) and other proinflammatory cytokines in a cumulative fashion leading to the Caspase dependent apoptosis of oligodendrocytes and myelin loss. In a rescue experiment, we could limit the demyelination and prevent disease progression by neutralizing the effector, TRAIL in an early stage of the disease. This is the first study to identify the accumulation of MBP antibodies in MOG induced EAE which possibly leads to TRAIL sensitized oligodendrocyte apoptosis in the white mater of EAE rats. This finding stresses on the need to study MBP antibody titers in M.S. patients and therefore might serve as an alternate marker for progressive demyelination. PMID:26477945

  19. Fibroepithelioma of Pinkus in continuity with nodular basal cell carcinoma: A rare presentation

    PubMed Central

    Dongre, Atul M.; Khopkar, Uday S.; Kalyanpad, Yogesh N.; Gole, Prachi V.

    2016-01-01

    Fibroepithelioma of Pinkus and nodular basal cell carcinoma (BCC) are different morphological variants of BCC. It is very rare to see both the variants together in a single lesion. Here we report a case of a 56-year-old female who presented with a nodule on the trunk, which on biopsy showed features of both nodular BCC and fibroepithelioma of Pinkus. PMID:27559504

  20. Fibroepithelioma of Pinkus in continuity with nodular basal cell carcinoma: A rare presentation.

    PubMed

    Dongre, Atul M; Khopkar, Uday S; Kalyanpad, Yogesh N; Gole, Prachi V

    2016-01-01

    Fibroepithelioma of Pinkus and nodular basal cell carcinoma (BCC) are different morphological variants of BCC. It is very rare to see both the variants together in a single lesion. Here we report a case of a 56-year-old female who presented with a nodule on the trunk, which on biopsy showed features of both nodular BCC and fibroepithelioma of Pinkus. PMID:27559504

  1. Hyaline protoplasmic astrocytopathy in the setting of tuberous sclerosis.

    PubMed

    Prayson, Richard A

    2016-09-01

    Hyaline protoplasmic astrocytopathy is a rare disorder marked by an accumulation of protein material in the cytoplasm of astrocytic cells, mostly in the cortex. The finding has been described in Aicardi syndrome (agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms) as well as in patients with pharmacoresistant epilepsy and in association with focal cortical dysplasia, polymicrogyria and nodular heterotopia. This report describes the first case of this entity described in a patient with tuberous sclerosis. The patient was a 3-year-old boy who presented at age 2months with medically intractable seizures. Has mother has a tuberous sclerosis 2 (TSC 2) gene abnormality and a diagnosis of tuberous sclerosis. On imaging, he was noted to have multiple lesions in the left parietal and temporal lobes consistent with focal cortical dysplasia and a subependymal nodule. He additionally had two hypopigmented lesions on the skin. He underwent resection of the left parietal lobe 32months after seizure onset. Histopathologic examination showed eosinophilic cytoplasmic inclusions within astrocytes in the cortex and superficial white matter focally accompanied by a disordered cortical architecture with dysmorphic neurons and balloon cells, consistent with focal cortical dysplasia classified as type IIb according to International League Against Epilepsy classification criteria (ILAE type IIb). At the time of most recent follow-up, 93months postoperatively, he is still experiencing seizures with overall worthwhile improvement while on seizure medication. PMID:27174083

  2. [Localized nodular pulmonary amyloidosis; report of a case].

    PubMed

    Shimada, Kazuyoshi; Tsubochi, H; Isogami, K; Kobayashi, S

    2006-12-01

    A 66-year-old female was admitted to our hospital because of chest abnormal shadow. Chest X-ray and chest computed tomography (CT) on admission showed a nodule in the right middle lobe. The nodule was not diagnosed preoperatively by a bronchoscopy. She underwent partial lung resection including the nodule with video-assisted thoracoscopic surgery. The pathological diagnosis was amyloidosis, and we diagnosed her illness as localized nodular pulmonary amyloidosis, since the amyloid substance was type AL. In addition, electron microscopy showed amyloid as straightly fibrous materials in alveolus. It is difficult to differentiate amyloidosis from lung cancer by radiology, and the lung biopsy with video-assisted thoracoscopic surgery is useful and a safety way to establish diagnosis. PMID:17163218

  3. Regression of nodular liver lesions in Wilson's disease.

    PubMed

    Kozic, D; Svetel, M; Petrovic, I; Sener, R N; Kostic, V S

    2006-09-01

    Long-term follow-up abdominal imaging studies have not been reported previously in patients with the hepatic form of Wilson's disease (WD). This paper reports the case of a 35-year-old woman with symptoms dating back several months and with multiple, nodular liver lesions. The lesions were hyperdense on non-enhanced computed tomography and hypointense on T2-weighted magnetic resonance (MR) images. A diagnosis of WD was established several weeks after her admission to hospital, and chelating treatment was commenced promptly. No abnormalities were found on follow-up MR examinations of the abdomen and brain 4.5 years later. These imaging features suggest that so long as WD is diagnosed in the initial stages, liver nodules can regress with time and complete healing can be achieved with continuous decoppering treatment. PMID:16950693

  4. 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. PMID:24650975

  5. Nodular mucinosis misdiagnosed as non-responsive secondary syphilis.

    PubMed

    Patrício, Catarina; Campos, Sara; João, Alexandre; Serrão, Vasco

    2015-01-01

    A previously healthy 24-year-old man presented with an erythematous, non-pruritic and painless papulonodular skin rash affecting the trunk, upper arms (excluding palms), neck, face, forehead and scalp. He had a penile ulcer for the past 2 weeks, almost healed at the time of observation. The patient tested positive for syphilis and HIV-1; he claimed being negative for HIV 6 months earlier. As the palms were not affected, we performed a skin biopsy for the differential diagnosis between secondary lues and acute HIV seroconversion reaction. Benzathine penicillin (2,400,000 units) was administrated and antiretroviral therapy started. Although the skin biopsy was compatible with secondary syphilis, there was no change in the skin rash 3 weeks after the first penicillin administration. Another 2 doses of penicillin were given but 4 weeks later the rash persisted. A second biopsy revealed a mucinous skin infiltration, compatible with nodular mucinosis. PMID:26311009

  6. Amyotrophic Lateral Sclerosis

    MedlinePlus

    Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your ... people with ALS die from respiratory failure. The disease usually strikes between age 40 and 60. More ...

  7. 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 ...

  8. Primary Lateral Sclerosis

    MedlinePlus

    ... synthesizers, and wheelchairs ma help some people retain independence.. Speech therapy may be useful for those with ... prevent, and ultimately cure these devastating diseases. NIH Patient Recruitment for Primary Lateral Sclerosis Clinical Trials At ...

  9. 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). PMID:21054151

  10. Multiple Sclerosis: Hope Through Research

    MedlinePlus

    ... of this page please turn Javascript on. Feature: Multiple Sclerosis Hope Through Research Past Issues / Spring 2012 Table ... that television journalist Neil Cavuto was diagnosed with multiple sclerosis (MS) more than 15 years ago. And that ...

  11. Diffuse Glomerular Nodular Lesions in Diabetic Pigs Carrying a Dominant-Negative Mutant Hepatocyte Nuclear Factor 1-Alpha, an Inheritant Diabetic Gene in Humans

    PubMed Central

    Hara, Satoshi; Umeyama, Kazuhiro; Yokoo, Takashi; Nagashima, Hiroshi; Nagata, Michio

    2014-01-01

    constitutive formation of nodules in this mammalian model might provide information facilitating identification of the principal mechanism underlying diabetic nodular sclerosis. PMID:24647409

  12. Nodular renal blastoma in kidney with multicystic dysplasia. Report of a case.

    PubMed

    Corsi, A; Boldrini, R; Caione, P; Bosman, C

    1995-04-01

    The clinico-pathologic association of nodular renal blastema, multicystic kidney and obstructive uropathy has been recently identified. We report on a female patient diagnosed as having unilater multicystic dysplasia by prenatal ultrasonography. The patient was nephrectomized at the age of 6 1/2 months. Examination of the resected kidney revealed multiple unilocular cysts in the cortex and hypoplasia of the homolateral ureter; histological study confirmed the presence of multiple cysts limited to the renal cortex, and revealed, among them, multiple cortical metanephric blastema cells islands. Our case supports a relationship between nodular renal blastema, cortical cysts and obstructive uropathy; ureter hypoplasia could cause intraluminal back pressure, with consequent abnormal development of the ampullae, normally endowed in nephronic anlagens induction, cystic tubular ectasia and persistence of nodular renal blastema. The peripheral location of renal nodular blastema and cysts supports a late error in nephrogenesis, at the time of formation of the last generation of nephrons. PMID:8532415

  13. Nodular Vasculitis That Developed during Etanercept (Enbrel) Treatment in a Patient with Psoriasis

    PubMed Central

    Park, Seung-Bae; Chang, In-Kyu; Im, Myung; Lee, Young; Kim, Chang-Deok; Seo, Young-Joon

    2015-01-01

    Nodular vasculitis was introduced by Montgomery for cases of erythema induratum-like lesions that were not associated with tuberculosis. Nodular vasculitis has been associated with both nontuberculous infections and noninfectious conditions. However, there has been no report on the development of nodular vasculitis during tumor necrosis factor-α inhibitor treatment. A 28-year-old man visited our clinic for the treatment of severe psoriasis with a 20-year history. Subcutaneous injection of etanercept (25 mg, twice weekly) was started. One year later, erythematous nodules developed on his lower leg. A skin biopsy showed lobular panniculitis with extensive necrosis and vasculitis. To exclude latent tuberculosis, an assay specific for Mycobacterium tuberculosis antigens was performed, with a negative result. After stopping etanercept under the diagnosis of nodular vasculitis associated with etanercept, the lesions gradually disappeared, leaving depressed scars in 3 months. There has been no recurrence after 6 months of follow-up. PMID:26512176

  14. Diagnosis and Management of Multiple Sclerosis in Children.

    PubMed

    Najafi, Mohammad Reza; Najafi, Mohammad Amin; Nasr, Zahra

    2016-01-01

    Growing evidence indicates the safety and well toleration of treatment by Disease-modifying in children suffering multiple sclerosis (MS). The treatment is not straight forward in a great number of patients, thus patients with pediatric MS must be managed by experienced specialized centers. Common treatments of multiple sclerosis for adults are first-line therapies. These therapies (firstline) are safe for children. Failure in treatment that leads to therapy alteration is almost prevalent in pediatric MS. Toleration against current second-line therapies has been shown in multiple sclerosis children. Oral agents have not been assessed in children MS patients. Although clinical trials in children are insufficient, immunomodulating managed children, experience a side effect similar to the adult MS patients. However, further prospective clinical studies, with large sample size and long follow-up are needed to distinguish the benefits and probable side effects of pediatric MS therapies. PMID:27375751

  15. Hepatic focal nodular hyperplasia with congenital portosystemic shunt.

    PubMed

    Cho, Yuki; Shimono, Taro; Morikawa, Hiroyasu; Shintaku, Haruo; Tokuhara, Daisuke

    2014-12-01

    Hepatic focal nodular hyperplasia (FNH) is a rare benign tumor in children. Vascular anomalies have been identified as pathological features of FNH, but the etiology remains unclear. We describe a rare case including the time course of formation of hepatic FNH in response to congenital portosystemic shunt (PSS). A 4-month-old girl was identified on newborn mass screening to have hypergalactosemia, but no inherited deficiencies in galactose-metabolizing enzymes were found. Ultrasonography and per-rectal portal scintigraphy showed intrahepatic PSS of the right lobe as a cause of the hypergalactosemia. At age 12 months, the patient had elevated hepatic enzymes and small hypoechoic hepatic lesions around the shunt. On abdominal contrast-enhanced ultrasonography spoke-wheel sign and central stellate scar were seen, which are typical features of hepatic FNH without biopsy. Congenital intrahepatic PSS should be evaluated on abdominal contrast-enhanced ultrasonography and observed over time because of its potential to develop into hepatic FNH. PMID:25521987

  16. Thermo-Metallurgical Modeling of Nodular Cast Iron Cooling Process

    NASA Astrophysics Data System (ADS)

    Carazo, Fernando D.; Dardati, Patricia M.; Celentano, Diego J.; Godoy, Luis A.

    2012-12-01

    A new numerical model to describe the microstructural evolution of a eutectic nodular cast iron during its cooling is presented. In particular, equiaxial solidification assuming an independent nucleation of austenite and graphite nodules is considered. In this context, the austenite has dendritic growth whereas the graphite grows with a spherical shape. After solidification occurs, the model assumes that the graphite nodules present in the cast iron continue growing since the carbon content in austenite decreases. Once the stable eutectoid temperature is reached, the alloy undergoes the austenite-ferrite transformation. The nucleation of the ferrite takes place at the contour of the spherical graphite nodules where austenite has low carbon concentration. A ferrite shell surrounding the graphite nodules is formed afterward by means of a process governed by carbon diffusion. Then, a ferrite-pearlite competitive transformation occurs when the temperature is below the metastable temperature. This thermo-metallurgical model is discretized and solved by means of the finite element method. The model allows the computation of cooling curves, fraction evolution for each component, and size and distribution of graphite nodules. The present numerical results are compared with experiments using standardized Quick-cup-type cups, and satisfactory numerical predictions of the final microstructure and cooling curves are achieved.

  17. Rhinophyma in tuberous sclerosis complex: case report with brief review of literature

    PubMed Central

    Friedrich, Reinhard E.; Hagel, Christian

    2014-01-01

    Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by the triad epilepsy, hamartomas (angiofibroma) and reduced intellectual capacity. Phenotype can vary considerably. Almost all patients with TSC have at least one characteristic dermatologic feature. Facial angiofibroma can cause severe disfigurement. It may involve the cheeks, perioral region and nose, resulting in thick layers of nodular and pustular skin. Aesthetic surgery of the face comprises an individually adapted ablation of the affected skin regions in order to improve physical appearance. Reports on the subject of surgery for nasal angiofibroma confirm the homogenous transformation of the connective tissues by this hamartoma. Hitherto there is only one report in the literature describing the typical epithelial alterations of the nasal skin compatible with a rhinophyma and adjacent angiofibroma. Here we report the successful electrosurgical treatment of a patient with TSC and extensive sebaceous glands giving rise to a rhinophyma in close association with angiofibroma. PMID:26504723

  18. Retroperitoneal nodular fasciitis: a benign etiology on the differential diagnosis of malignant gastric outlet obstruction

    PubMed Central

    Jiang, Wei; Coben, Robert M.

    2015-01-01

    Nodular fasciitis is a relatively rare, benign and proliferative lesion that is not typically found in the retroperitoneal (RP) space and has not been previously reported as a cause of gastric outlet obstruction (GOO). GOOs are frequently associated with malignancies, however, benign etiologies should be considered as well. We report the first case of GOO secondary to nodular fasciitis in the form of a spontaneously regressing RP mass that was initially concerning for malignancy. PMID:25830048

  19. Retroperitoneal nodular fasciitis: a benign etiology on the differential diagnosis of malignant gastric outlet obstruction.

    PubMed

    Kistler, C Andrew; Jiang, Wei; Coben, Robert M

    2015-04-01

    Nodular fasciitis is a relatively rare, benign and proliferative lesion that is not typically found in the retroperitoneal (RP) space and has not been previously reported as a cause of gastric outlet obstruction (GOO). GOOs are frequently associated with malignancies, however, benign etiologies should be considered as well. We report the first case of GOO secondary to nodular fasciitis in the form of a spontaneously regressing RP mass that was initially concerning for malignancy. PMID:25830048

  20. A Weeping Tumor in a Young Girl: An Unusual Presentation of Nodular Hidradenoma.

    PubMed

    Das, Anupam; Gayen, Tirthankar; Podder, Indrashis; Shome, Kaushik; Bandyopadhyay, Debabrata

    2016-01-01

    A 10-year-old girl presented with a swelling on her left thigh that was associated with dripping of serous fluid from the lesion. Based on histological features of the excised tumor, a diagnosis of nodular hidradenoma was made. Atypical features including large size of the tumor, location on the lower limb, a weeping presentation, and histological finding of a nodular hidradenoma with an unusually large cystic cavity discharging fluid prompted us to report the case. PMID:27293255

  1. A Weeping Tumor in a Young Girl: An Unusual Presentation of Nodular Hidradenoma

    PubMed Central

    Das, Anupam; Gayen, Tirthankar; Podder, Indrashis; Shome, Kaushik; Bandyopadhyay, Debabrata

    2016-01-01

    A 10-year-old girl presented with a swelling on her left thigh that was associated with dripping of serous fluid from the lesion. Based on histological features of the excised tumor, a diagnosis of nodular hidradenoma was made. Atypical features including large size of the tumor, location on the lower limb, a weeping presentation, and histological finding of a nodular hidradenoma with an unusually large cystic cavity discharging fluid prompted us to report the case. PMID:27293255

  2. Multiple sclerosis and pregnancy.

    PubMed

    Bodiguel, E; Bensa, C; Brassat, D; Laplaud, D; Le Page, E; Ouallet, J-C; Zephir, H; De Seze, J

    2014-04-01

    The question of pregnancy in patients with multiple sclerosis is regularly raised due to the prevalence of the disease in middle age women. The multiple sclerosis think tank (Groupe de Réflexion sur la Sclérose en Plaques [GRESEP]) decided to develop recommendations on this issue, with consideration to both the impact of multiple sclerosis on pregnancy, and that of pregnancy on the disease. As with topics of previous works, the formal expert consensus method was used. The working group was composed of hospital-based and private practice neurologists. The reading group was composed of neurologists, anaesthetists and obstetricians. Each recommendation is presented with the relevant level of consensus. PMID:24684929

  3. Immunopathology of multiple sclerosis.

    PubMed

    Dendrou, Calliope A; Fugger, Lars; Friese, Manuel A

    2015-09-15

    Two decades of clinical experience with immunomodulatory treatments for multiple sclerosis point to distinct immunological pathways that drive disease relapses and progression. In light of this, we discuss our current understanding of multiple sclerosis immunopathology, evaluate long-standing hypotheses regarding the role of the immune system in the disease and delineate key questions that are still unanswered. Recent and anticipated advances in the field of immunology, and the increasing recognition of inflammation as an important component of neurodegeneration, are shaping our conceptualization of disease pathophysiology, and we explore the potential implications for improved healthcare provision to patients in the future. PMID:26250739

  4. 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…

  5. 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.

  6. Hepatic adenoma and focal nodular hyperplasia: differential diagnosis and treatment.

    PubMed

    Herman, P; Pugliese, V; Machado, M A; Montagnini, A L; Salem, M Z; Bacchella, T; D'Albuquerque, L A; Saad, W A; Machado, M C; Pinotti, H W

    2000-03-01

    The diagnosis of benign hepatic tumors as hepatic adenoma (HA) and focal nodular hyperplasia (FNH) remains a challenge for clinicians and surgeons. The importance of differentiating between these lesions is based on the fact that HA must be surgically resected and FNH can be only observed. A series of 23 female patients with benign liver tumors (13 FNH, 10 HA) were evaluated, and a radiologic diagnostic algorithm was employed with the aim of establishing preoperative criteria for the differential diagnosis. All patients were submitted to surgical biopsy or hepatic resection to confirm the diagnosis. Based only on clinical and laboratory data, distinction was not possible. According to the investigative algorithm, the diagnosis was correct in 82.6% of the cases; but even with the development of imaging methods, which were used in combination, the differentiation was not possible in four patients. For FNH cases scintigraphy presented a sensitivity of 38.4% and specificity of 100%, whereas for HA the sensitivity reached 60% and specificity 85.7%. Magnetic resonance imaging, employed when scintigraphic findings were not typical, presented sensitivities of 71.4% and 80% and specificities of 100% and 100% for FNH and HA, respectively. Preoperative diagnosis of FNH was possible in 10 of 13 (76.9%) patients and was confirmed by histology in all of them. In one case, FNH was misdiagnosed as HA. The diagnosis of HA was possible in 9 of 10 (90%) adenoma cases. Surgical biopsy remains the best method for the differential diagnosis between HA and FNH and must be performed in all doubtful cases. Surgical resection is the treatment of choice for all patients with adenoma and can be performed safely. With the evolution of imaging methods it seems that the preoperative diagnosis of FNH may be considered reliable, thereby avoiding unnecessary surgical resection. PMID:10658075

  7. Treatment of Nodular Fasciitis Occurring on the Face

    PubMed Central

    Oh, Byung Ho; Kim, Jihee; Zheng, Zhenlong; Roh, Mi Ryung

    2015-01-01

    Background Surgical excision is generally recommended for the treatment of nodular fasciitis (NF) to rule out sarcoma. However, in cases of NF occurring on the face, the reported recurrence rate is higher and the surgical approach may result in considerable aesthetic concern. Objective To describe our experience with NF occurring on the face and evaluate the outcomes of surgical and nonsurgical methods of treatment. Methods We performed a retrospective review of 16 patients with NF on the face. The patients were treated with surgical excision or nonsurgical methods such as triamcinolone intralesional injection (TA ILI) and pinhole method with a carbon dioxide (CO2) laser. Results Among the 16 patients, surgical treatment was performed in 9 and recurrence occurred in 7 of these 9 patients (77.8%). The recurred lesions showed regression after repeated TA ILI. On the other hand, five patients underwent nonsurgical treatment after the histologic exclusion of malignancy. Their lesions showed regression after repeated pinhole treatment and TA ILI. In one case, NF spontaneously regressed. On a visual analogue scale, the nonsurgical approach showed superior results. However, the values were not statistically significant (6.90±1.56 vs. 5.61±1.36; p=0.163). The satisfaction level was lower in patients who experienced recurrence after surgical excision. Conclusion Surgical treatment for NF on the face showed a noticeable recurrence rate and resulted in scarring. Therefore, considering the possibility of spontaneous regression, the nonsurgical method can be considered as an alternative treatment option for NF on the face. PMID:26719638

  8. The role of periventricular nodular heterotopia in epileptogenesis.

    PubMed

    Aghakhani, Yahya; Kinay, Demet; Gotman, Jean; Soualmi, Lahbib; Andermann, Frederick; Olivier, André; Dubeau, François

    2005-03-01

    A temporal resection in patients with periventricular nodular heterotopia (PNH) and intractable focal seizures yields poor results. To define the role of heterotopic grey matter tissue in epileptogenesis and to improve outcome, we performed stereoencephalography (SEEG) recordings in eight patients with uni- or bilateral PNH and intractable focal epilepsy. The SEEG studies aimed to evaluate the most epileptogenic areas and included the allo- and neocortex and at least one nodule of grey matter. Interictal spiking activity was found in ectopic grey matter in three patients, in the cortex overlying the nodules in five and in the mesial temporal structures in all. At least one heterotopion was involved at seizure onset in six patients, synchronous with the overlying neocortex or ipsilateral hippocampus. Two patients had their seizures originating in the mesial temporal structures only. Six patients had surgery and the resected areas included the seizure onset, with follow-up from 1 to 8 years. An amygdalo-hippocampectomy was performed in two (Engel class Id and III), an amygdalo-hippocampectomy plus removal of an adjacent heterotopion in two (class Ia), and a resection of two contiguous nodules plus a small rim of overlying occipital cortex in one patient (class Id). One patient with bilateral PNH had three adjacent nodules resected and an ipsilateral amygdalo-hippocampectomy resulting in a reduction of the number of seizures by 25-50%. The best predictor of surgical outcome is the presence of a focal epileptic generator; this generator may or may not include the PNH. Invasive recording is required in patients with PNH; it improves localization and is the key to better outcome. PMID:15659421

  9. MRI phase changes in multiple sclerosis vs neuromyelitis optica lesions at 7T

    PubMed Central

    Sinnecker, Tim; Schumacher, Sophie; Mueller, Katharina; Pache, Florence; Dusek, Petr; Harms, Lutz; Ruprecht, Klemens; Nytrova, Petra; Chawla, Sanjeev; Niendorf, Thoralf; Kister, Ilya; Ge, Yulin; Wuerfel, Jens

    2016-01-01

    Objective: To characterize paramagnetic MRI phase signal abnormalities in neuromyelitis optica spectrum disorder (NMOSD) vs multiple sclerosis (MS) lesions in a cross-sectional study. Methods: Ten patients with NMOSD and 10 patients with relapsing-remitting MS underwent 7-tesla brain MRI including supratentorial T2*-weighted imaging and supratentorial susceptibility weighted imaging. Next, we analyzed intra- and perilesional paramagnetic phase changes on susceptibility weighted imaging filtered magnetic resonance phase images. Results: We frequently observed paramagnetic rim-like (75 of 232 lesions, 32%) or nodular (32 of 232 lesions, 14%) phase changes in MS lesions, but only rarely in NMOSD lesions (rim-like phase changes: 2 of 112 lesions, 2%, p < 0.001; nodular phase changes: 2 of 112 lesions, 2%, p < 0.001). Conclusions: Rim-like or nodular paramagnetic MRI phase changes are characteristic for MS lesions and not frequently detectable in NMOSD. Future prospective studies should ask whether these imaging findings can be used as a biomarker to distinguish between NMOSD- and MS-related brain lesions. PMID:27489865

  10. 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 lowerPomcbut higherAgrpmRNA 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 lateral

  11. 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. PMID:27376363

  12. 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

  13. Diagnosis and management of multiple sclerosis.

    PubMed

    Calabresi, Peter A

    2004-11-15

    Multiple sclerosis, an idiopathic inflammatory disease of the central nervous system, is characterized pathologically by demyelination and subsequent axonal degeneration. The disease commonly presents in young adults and affects twice as many women as men. Common presenting symptoms include numbness, weakness, visual impairment, loss of balance, dizziness, urinary bladder urgency, fatigue, and depression. The diagnosis of multiple sclerosis should be made by a physician with experience in identifying the disease. Diagnosis should be based on objective evidence of two or more neurologic signs that are localized to the brain or spinal cord and are disseminated in time and space (i.e., occur in different parts of the central nervous system at least three months apart). Magnetic resonance imaging with gadolinium contrast, especially during or following a first attack, can be helpful in providing evidence of lesions in other parts of the brain and spinal cord. A second magnetic resonance scan may be useful at least three months after the initial attack to identify new lesions and provide evidence of dissemination over time. It is critical to exclude other diseases that can mimic multiple sclerosis, including vascular disease, spinal cord compression, vitamin B12 deficiency, central nervous system infection (e.g., Lyme disease, syphilis), and other inflammatory conditions (e.g., sarcoidosis, systemic lupus erythematosus, Sjögren's syndrome). Symptom-specific drugs can relieve spasticity, bladder dysfunction, depression, and fatigue. Five disease-modifying treatments for multiple sclerosis have been approved by the U.S. Food and Drug Administration. These treatments are partially effective in reducing exacerbations and may slow progression of disability. PMID:15571060

  14. 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

  15. Pregnancy and multiple sclerosis

    PubMed Central

    Airas, Laura; Kaaja, Risto

    2012-01-01

    The relapse rate of multiple sclerosis (MS) is typically reduced during late pregnancy but increases in the postpartum period. The reasons for the increased postpartum activity are not entirely clear, but factors such as the abrupt decrease in oestrogen levels immediately after the delivery and the loss of the immunosuppressive state of pregnancy are likely of importance. There is a general view that MS does not affect the course or outcome of pregnancy.

  16. 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

  17. Nodular Fasciitis of the Hand Over the Metacarpophalangeal Joint: A Case Report

    PubMed Central

    Sailon, Alexander M; Cappuccino, Guy; Hameed, Meera; Fleegler, Earl J

    2008-01-01

    Objective: This study describes a case of nodular fasciitis involving the hand and reviews the neoplasm's pertinent clinical, histologic, and pathologic features. Methods: The patient's chart, operative record, histologic specimens, and relevant literature were reviewed. Results: We report a case of nodular fasciitis involving the hand of a 55-year-old woman that was treated with marginal excision. Conclusions: Nodular fasciitis is a self-limited, benign soft tissue tumor composed of fibroblasts and myofibroblasts that typically afflicts younger patients and rarely presents in the hand. Because of its presentation, it can be easily mistaken for a malignant neoplasm. However, most cases represent a reactive and therefore a polyclonal process. Marginal excision generally provides definitive treatment. PMID:18725954

  18. Coexistence of Solid (Nodular) and Differentiated (Adenoid) Basal Cell Carcinoma at the Same Anatomical Site

    PubMed Central

    Rao, Angoori Gnaneshwar

    2015-01-01

    Coexistence of two different histopathological types of basal cell carcinomas (BCCs) in the same anatomical site is rare and interesting. Herein, we report a case of coexistence of nodular and adenoid BCC in a 78-year-old peasant who presented with a plaque and a globular swelling on left paranasal region of few years duration. Histopathology of skin biopsy with immunohistochemistry study using antibodies to S100, epithelial membrane antigen (EMA) and cytokeratin 7 (CK 7) from the margin of the ulcer and globular swelling confirmed the diagnosis that revealed features of nodular and adenoid basal cell carcinoma, respectively. Investigative work up did not reveal evidence of metastasis. PMID:26538745

  19. Drug-induced Hypersensitivity Syndrome Accompanied by Pulmonary Lesions Exhibiting Centrilobular Nodular Shadows.

    PubMed

    Sawata, Tetsuro; Bando, Masashi; Kogawara, Haruna; Nakayama, Masayuki; Mato, Naoko; Yamasawa, Hideaki; Takemura, Tamiko; Sugiyama, Yukihiko

    2016-01-01

    A 51-year-old woman diagnosed with Crohn's disease developed drug-induced hypersensitivity syndrome (DIHS) 12 and six weeks after starting the oral intake of mesalazine and trimethoprim/sulfamethoxazole, respectively. Chest CT showed centrilobular nodular shadows and a transbronchial lung biopsy (TBLB) revealed infiltration of inflammatory cells predominantly in the small pulmonary artery walls and bronchiolar walls. Regarding pulmonary lesions of DIHS, infiltrative shadows have sometimes been reported, whereas nodular shadows have rarely been documented. This is a valuable case report for considering the mechanism underlying the development of pulmonary lesions in case of DIHS. PMID:27150872

  20. Intraneural nodular fasciitis of the radial nerve with rapidly progressive motor symptoms

    PubMed Central

    Sundar, Swetha J.; Healy, Andrew T.; Shook, Steven J.; Kamian, Kambiz

    2016-01-01

    Background: Nodular fasciitis is a benign mesenchymal tumor arising from fascia that typically presents as a rapidly growing, subcutaneous mass. Intraneural cases are very rare and can present with neurological symptoms, requiring surgical resection. Case Description: A 31-year-old woman presented to us with painful paresthesias in her elbow and progressive motor deficits, for which she underwent surgery. Conclusion: The authors report the first case of intraneural nodular fasciitis occurring in the radial nerve and highlight the possibility of rapidly progressive motor deficit in patients presenting with this rare clinical entity. PMID:27114852

  1. [Antibodies to phospholipids and the vascular endothelium in nodular polyarteritis].

    PubMed

    Kirdianov, S Iu; Baranov, A A; Nasonov, E L; Salozhin, K V; Gur'eva, M S; Abaĭtova, N E; Bazhina, O V

    2001-01-01

    Clinical significance of antibodies to phospholipids (aPL) and vascular endothelium (aVE) was evaluated in 20 patients (9 women and 11 men aged 36 +/- 10.8 years) with nodular polyarteritis (NP) corresponding to classification criteria of the USA Rheumatology College. Antibodies to cardiolipin (aCL) (IgG and IgM) and to beta 2-glycoprotein (beta 2-GP1) (IgG) were titered by solid-phase enzyme immunoassay. Total serum level of aVE (IgG + IgM + IgA) was measured by solid-phase enzyme immunoassay using Eahy. 926 endothelial hybrydoma cell culture. Anticardiolipin antibodies were detected in 11 (55%) of 20 patients, 3 of these had IgG aCL, 4 IgM aCL, and 4 both antibody isotypes. Serum titers of all aCL were moderate in all cases. No antibodies to beta 2-GP1 were detected in any of the patients. Total serum endothelial activity varied from 0 to 89.7% in patients with NP. Mean aVE level was 24.45 +/- 21.2%, which was significantly higher than in donors (p < 0.001). In 4 (26.7%) of 15 patients with NP total level of aVE surpassed the upper threshold normal value. The presence of aCL directly correlated with the presence of reticular livedo (r = 0.54, p < 0.05), but not with any other clinical laboratory manifestations of the disease, including thrombotic complications (deep thrombosis of lower limb veins, stroke, myocardial infarction), renal involvement, increased erythrocyte sedimentation rate, increased concentrations of von Willebrand factor antigen and C-reactive protein, or angiitis activity. Vascular endothelial antibodies directly correlated with renal involvement (r = 1.00, p < 0.01), distal gangrene of the limb (r = 0.83, p < 0.01), and angiitis activity (r = 0.78, p < 0.001), with high level of von Willebrand factor antigen and increased erythrocyte sedimentation rate (r = 0.66 and r = 0.64, respectively; p < 0.01), but not with aCL (r = 0.43, p > 0.05) of any isotype (aCL IgG r = -0.01; r = 0.34; p < 0.05). All patients with aVE had aCL in the serum (aCL Ig

  2. Natalizumab therapy of multiple sclerosis.

    PubMed

    Hutchinson, Michael

    2010-10-01

    Multiple sclerosis (MS) is the commonest disabling neurological disease of young and middle-aged adults affecting 1 million persons world wide. The illness begins with a relapsing-remitting MS course in 85%–90% of patients; the other 10%–15% have a primary progressive onset MS. Our current understanding is that MS is an autoimmune disorder with an inflammatory T-cell attack on myelin or some component of the oligodendrocyte--myelin structure. Relapses of disease activity result in plaques of demyelination with destruction of myelin and, to a lesser, extent axons. Lymphocytes within the central nervous system tissue recruit more cells leading to an inflammatory cascade that causes myelin damage, axonal disruption, and neuronal death. If the plaque occurs in a vocal area of the central nervous system then symptoms relating to that area result. However, magnetic resonance imaging shows that approximately 10 times more lesions occur in asymptomatic areas of the brain. Recovery from an initial relapse may appear relatively complete but persistent inflammation results in axonal injury and residual disability results. With time and accumulated lesion load, secondary degeneration of denuded axons results in the phase of secondary progressive MS usually 15-20 years after onset. PMID:20874255

  3. Massive nodular pseudoangiomatous stromal hyperplasia (PASH) of the breast arising simultaneously in the axilla and vulva.

    PubMed

    Jordan, Adrienne C; Jaffer, Shabnam; Mercer, Stephen E

    2011-02-01

    The authors describe a 52-year-old woman with a history of bilateral mastectomies for macromastia caused by massive nodular pseudoangiomatous stromal hyperplasia (PASH), who presented with 2 large growths in her left axilla and groin. These masses had been increasing in size for nearly a year. When excised, the axillary mass had dimensions of 14.0 × 14.0 × 5.5 cm(3) and weighed 664 g. The groin mass was slightly smaller at 14.5 × 11.0 × 5.0 cm(3) and 518 g. Microscopic examination of both masses revealed breast tissue expanded by a hyalinized stroma with prominent slit-like pseudovascular spaces, consistent with PASH. Small incidental foci of PASH are common findings in breast excisions; however, large nodular foci are rare. Furthermore, nodular foci in accessory breast tissue are exceedingly rarer and can raise clinical concerns for malignancy. Histopathologically, PASH can be mistaken for low-grade angiosarcoma. To the authors' knowledge, the present case appears to be the first description of multiple simultaneous foci of massive nodular PASH arising in accessory breast tissue. PMID:21285079

  4. Characteristics of autoclave and in-reactor nodular corrosion of Zircaloys

    SciTech Connect

    Jeong, Y.H.; Rheem, K.S. ); Chung, H.M. )

    1990-11-01

    Nodular corrosion characteristics of recrystallized Zircaloy-4 were investigated in static autoclave tests at 500{degree}C and 10.3 MPa. The roles of annealing temperature, cooling rate after beta-treating at 1050{degree}C, cold work, and surface treatment in corrosion tests were correlated with the results of microstructural characterization by scanning and transmission electron microscopies. A good correlation was obtained between average size of intermetallic precipitates and weight gain, in contrast to nodule coverage and nodule number density. These results could be best explained by the hypothesis that nodules nucleate in local regions that are depleted of Fe and Cr alloying elements. Some observations were inconsistent with the premise that nodules nucleate on or near intermetallic precipitates. Nodular corrosion characteristics and microstructures of commercial Zircaloy-2 cladding of fuel and gadolinia rods, obtained from several BWRs after burnup of 11--30 MWd/kgU, were also examined. Partial amorphization of intermetallic precipitates in BWR Zircaloy-2, and virtual dissolution and in an extreme case spinodal- like fluctuations of dissolved alloying elements in PWR Zircaloy-4 cladding were observed. Occurrence of nodular oxidation of Zircaloy-2 in BWRs could best be correlated to average size of intermetallic precipitates before irradiation and to fuel cladding operating temperature. For an intermetallic size range of 250--700 nm, nodular oxides were observed at 288{degree}C, but only thick uniform oxide was observed at 307{degree}C. 53 refs., 14 figs., 1 tab.

  5. Multiple sclerosis and infections.

    PubMed

    Venkatesan, Arun

    2015-01-01

    The intersection between infections and multiple sclerosis (MS) is complex and bidirectional. Numerous infectious agents have been posited to play a role in the initiation of MS, while emerging evidence suggests a potential relationship between established MS and the gut microbiome. As both systemic and CNS infections are major complications of MS, the clinical manifestations and evolving epidemiology of these infections over the lifespan of the MS patient are examined in this review. Data from animal models and human studies are discussed. PMID:26611265

  6. [Hypersomnia in multiple sclerosis].

    PubMed

    Schlüter, B; Aguigah, G; Andler, W

    1996-01-01

    A 13-year-old girl presented with hyersomnia and incontinence of urine. The clinical course was complicated by strabism, muscle weakness and coordination and balance disturbances. VEP recording were pathologic. Myelin basic protein in the cerebrospinal fluid was elevated. Nuclear resonance imaging of the brain revealed multiple areas of demyelination. These findings supported the diagnosis of multiple sclerosis. There was a marked disturbance of the sleep-waking-pattern during the acute phase of the illness. The hypnogram resembled the pattern of polysymptomatic narcolepsy. Regression of symptoms was noted with dexamethasone therapy. PMID:8676595

  7. Psychopathology in Multiple Sclerosis

    PubMed Central

    Brüne, Martin; Juckel, Georg

    2009-01-01

    Multiple sclerosis (MS) is a chronic inflammatory disorder of the central nervous system. Demyelinization of nerve fibres not only affects the motor and sensory systems functionally, but may also cause psychopathological signs and symptoms. In addition to the psychiatric manifestations of MS, many patients have reactive psychological problems that are often hard to distinguish from the ‘organic’ causation of psychopathology. In any event, psychiatric comorbidity in MS deserves greater clinical attention than has been previously paid, because the presence of psychopathology may have deleterious effects on the disease process and impair coping with disability. PMID:21180640

  8. [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. PMID:25732950

  9. Co-occurrence of multiple sclerosis and Parkinson disease

    PubMed Central

    Shaygannejad, Vahid; Shirmardi, Maryam; Dehghani, Leila; Maghzi, Helia

    2016-01-01

    Parkinson disease (PD) is a neurodegenerative disease of the central nervous system (CNS) with the highest prevalence in adults over 60 years of age On the other hand multiple sclerosis (MS), which mostly affects individuals between 20 and 40 years of age, is another neurodegenerative and autoimmune disease of the CNS, however, less common than PD. Here we aim to report the case of a 39-year-old woman, who developed PD 18 years after diagnosis of MS. PMID:27195248

  10. Co-occurrence of multiple sclerosis and Parkinson disease.

    PubMed

    Shaygannejad, Vahid; Shirmardi, Maryam; Dehghani, Leila; Maghzi, Helia

    2016-01-01

    Parkinson disease (PD) is a neurodegenerative disease of the central nervous system (CNS) with the highest prevalence in adults over 60 years of age On the other hand multiple sclerosis (MS), which mostly affects individuals between 20 and 40 years of age, is another neurodegenerative and autoimmune disease of the CNS, however, less common than PD. Here we aim to report the case of a 39-year-old woman, who developed PD 18 years after diagnosis of MS. PMID:27195248

  11. Pediatric multiple sclerosis: Perspectives from adolescents and their families.

    PubMed

    Krupp, Lauren B; Rintell, David; Charvet, Leigh E; Milazzo, Maria; Wassmer, Evangeline

    2016-08-30

    Supporting young people with pediatric multiple sclerosis can be challenging for families and health care providers. Adolescents may be more resilient than adults in reaction to the diagnosis but can have more difficulty planning for their futures. Appropriate, sensitive, and focused health provision should include consideration of the perspective of both the patient and parents. Multidisciplinary management strategies are often effective, as are referrals to programs that enhance individual and family coping and strengthen a sense of community. PMID:27572860

  12. Tuberous sclerosis, hypopigmented macule (image)

    MedlinePlus

    This area of decreased pigment (hypopigmentation) is referred to as an "ash leaf macule" and is seen with the inherited disorder, tuberous sclerosis. Another finding, "confetti hypopigmentation" is evident as scattered white spots around the ash leaf spot.

  13. Tuberous Sclerosis Complex Renal Disease

    PubMed Central

    Dixon, Bradley P.; Hulbert, John C.; Bissler, John J.

    2010-01-01

    Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal survival and improved quality of life for the TSC patient. This review specifically addresses some of the major renal manifestations of this disease. PMID:21071977

  14. [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. PMID:25732945

  15. 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

  16. Alemtuzumab for Multiple Sclerosis.

    PubMed

    Willis, Mark D; Robertson, Neil P

    2016-09-01

    Alemtuzumab is a humanised anti-CD52 monoclonal antibody approved for use in active, relapsing multiple sclerosis (MS). Administration results in a rapid depletion of circulating lymphocytes with a subsequent beneficial immune reconstitution. Early open-label experience and recent clinical trials have demonstrated a dramatic effect on relapse rates as well as a positive effect on radiological disease outcomes and disability measures. Despite a mechanism of action that results in profound lymphopaenia, opportunistic infections are rarely seen and no excess association with malignancy has been identified. However, acquired autoimmune disease (AID) is a common adverse event following treatment, necessitating rigorous monitoring in order to facilitate prompt detection and management. Despite this issue, a unique dosing schedule and durability of effect make alemtuzumab a welcome addition to currently available treatment options for MS. PMID:27485945

  17. Metabolomics in multiple sclerosis.

    PubMed

    Bhargava, Pavan; Calabresi, Peter A

    2016-04-01

    Multiple sclerosis (MS) is a chronic demyelinating disorder of the central nervous system with inflammatory and degenerative components. The cause of MS remains unknown although genetic and environmental factors appear to play a role in its etiopathogenesis. Metabolomics is a new "omics" technology that aims at measuring small molecules in various biological matrices and can provide information that is not readily obtained from genomics, transcriptomics, or proteomics. Currently, several different analytical platforms exist for metabolomics, and both untargeted and targeted approaches are being employed. Methods of analysis of metabolomics data are also being developed and no consensus currently exists on the optimal approach to analysis and interpretation of these data. Metabolomics has the potential to provide putative biomarkers, insights into the pathophysiology of the disease, and to aid in precision medicine for patients with MS. PMID:26754801

  18. Immunology of Multiple Sclerosis.

    PubMed

    Sospedra, Mireia; Martin, Roland

    2016-04-01

    Multiple sclerosis (MS) is considered a prototypic autoimmune disease of the central nervous system (CNS). A complex genetic background with the HLA-DR15 haplotype as the main genetic risk factor and over 100 mostly immune-related minor risk alleles as well as several environmental factors contribute to the etiology of MS. With respect to pathomechanisms, autoimmune inflammation in early MS is primarily mediated by adaptive immune responses and involves autoreactive T cells, B cells, and antibodies, while the later, chronic stages of MS are characterized by a compartmentalized immune response in the CNS with activated microglia and macrophages. A host of immune cells and mediators can contribute to the autoimmune process, but CNS-related factors such as localization of lesions, vulnerability of oligodendrocytes, neurons/axons, and secondary metabolic changes all play a role in the heterogeneous expression of the disease, including different pathologic lesion patterns, neuroimaging findings, disease courses, and severity and response to treatment. PMID:27116718

  19. Aging and multiple sclerosis.

    PubMed

    Sanai, Shaik Ahmed; Saini, Vasu; Benedict, Ralph Hb; Zivadinov, Robert; Teter, Barbara E; Ramanathan, Murali; Weinstock-Guttman, Bianca

    2016-05-01

    The life expectancy and average age of persons with multiple sclerosis (MS) have increased significantly during the last two decades. The introduction of disease-modifying therapies and a better delineation and understanding of the superimposed comorbidities often diagnosed in MS patients are probably the most important factors accountable for the increase in aging MS population worldwide. Healthcare teams must therefore address the problems arising due to advancing age superimposed on this chronic neurologic disease. In this review, we focus on the physiology of aging, its effects on MS disease course, and the pathological and immunological changes associated with aging and disease progression. Additionally, we discuss the common comorbidities that occur in aging persons with MS that may arise either as a result of the aging process or from relentless chronic MS disease progression as well as the challenges on differentiating the two processes for a more appropriate therapeutic approach. PMID:26895718

  20. A 65-year-old man with persistent cough and large nodular opacity.

    PubMed

    Grimes, Brandon S; Albores, Jeffrey; Barjaktarevic, Igor

    2015-01-01

    A 65-year-old Asian man with a history of chronic hepatitis B infection presented to our pulmonary clinic for second opinion of his chronic, persistent, nonproductive cough. He was evaluated 10 months earlier with chest CT scan, which revealed a large lingular nodular opacity that was diagnosed as nodular cryptogenic organizing pneumonia by CT scan-guided percutaneous lung biopsy. Systemic corticosteroids were initiated and continued over the next 10 months. The dry cough persisted, and he developed intermittent left-sided pleuritic chest pain. He denied fevers, night sweats, hemoptysis, weight loss, or dyspnea. He was a lifelong nonsmoker and moved to the United States from China during childhood. PMID:25560867

  1. 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.

  2. Nodular and diffuse fibrous proliferation of the penis and tunica vaginalis.

    PubMed

    Musulen, Eva; Carvia-Ponsaille, Rafael Esteban; Fernandez-Figueras, Maria Teresa; Barranco-Garcia, Juan de Dios; Ariza, Aurelio

    2008-04-01

    Fibrous benign proliferations of the testis and paratesticular tissues are an uncommon and heterogeneous group of lesions that can mimic true neoplasms. Among them, those considered to be reactive proliferations have been included in the category of fibrous pseudotumors and are often associated with trauma, hydrocele, or infection. We report 2 cases of nodular and diffuse fibrous proliferation. This condition is part of the spectrum of reactive benign fibrous lesions and has previously been described in the testicular tunics and paratesticular region only. One of our 2 cases had the peculiarity of being located in the penile shaft, whereas the other involved the tunica vaginalis. To the best of our knowledge, this is the first report of a diffuse and nodular fibrous tumor involving the penis. PMID:18360130

  3. Pulmonary epithelioid hemangioendothelioma coexisting with pulmonary nodular amyloidosis: case discussion and review of the literature

    PubMed Central

    Yi, Lingling; Cheng, Dan; Shi, Huimin; Zhang, Kan; Liao, Yongde; Ao, Qilin; Zhen, Guohua

    2014-01-01

    A 38-year-old female was found to have multiple bilateral lung nodules in a routine chest X-ray examination. Thoracoscopy was performed with biopsy of three nodules from the right lower lobe and Congo red staining showed typical amyloid pattern. Initial diagnosis of pulmonary nodular amyloidosis was made. However, one nodule in the right upper lobe enlarged as detected by follow-up CT scan. The patient underwent F-18 fluorodeoxyglucose positron emission tomography (18F-FDG-PET)/CT and a significant high FDG uptake in the largest nodule in right upper lobe was observed while the uptake was normal or mildly increased in the other nodules. Meanwhile, right hilar and mediastinal lymph nodes adenopathy was noted. Right upper lobe was resected by thoracotomy. Surprisingly, histopathological findings showed pulmonary epithelioid hemangioendothelioma (PEH) with metastasis of hilar and mediastinal lymph nodes. To our knowledge, this is the first described case of PEH coexisting with pulmonary nodular amyloidosis. PMID:25126197

  4. 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).

  5. A comparison of nodular defect seed geometeries from different deposition techniques

    SciTech Connect

    Stolz, C.J.; Tench, R.J.; Kozlowski, M.R.; Fornier, A.

    1995-12-29

    A focused ion-beam milling instrument commonly utilized in the semiconductor industry for failure analysis and IC repair, is capable of cross-sectioning nodular defects. Utilizing the instrument`s scanning on beam, high-resolution imaging of the seeds that initiate nodular defect growth is possible. In an attempt to understand the origins of these seeds, HfO{sub 2}/SiO{sub 2} and Ta{sub 2}O{sub 5}/SiO{sub 2} coatings were prepared by a variety of coating vendors and different deposition processes including e-beam, magnetron sputtering, and ion beam sputtering. By studying the shape, depth, and composition of the seed, inferences of its origin can be drawn. The boundaries between the nodule and thin film provide insight into the mechanical stability of the nodule. Significant differences in the seed composition, geometry of nodular growth and mechanical stability of the defects for sputtered versus e-beam coatings are reported. Differences in seed shape were also observed from different coating vendors using e-beam deposition of HfO{sub 2}/SiO{sub 2} coatings.

  6. Nodular Scleritis Associated with Herpes Zoster Virus: An Infectious and Immune-Mediated Process.

    PubMed

    Loureiro, Mónica; Rothwell, Renata; Fonseca, Sofia

    2016-01-01

    Purpose. To describe a case of anterior nodular scleritis, preceded by an anterior hypertensive uveitis, which was primarily caused by varicella zoster virus (VZV). Case Report. A 54-year-old woman presented with anterior uveitis of the right eye presumably caused by herpetic viral disease and was successfully treated. Two months later, she developed a nodular scleritis and started oral nonsteroidal anti-inflammatory without effect. A complete laboratory workup revealed positivity for HLA-B27; the infectious workup was negative. Therapy was changed to oral prednisolone and an incomplete improvement occurred. Therefore, a diagnostic anterior paracentesis was performed and the polymerase chain reaction (PCR) analysis revealed VZV. She was treated with valacyclovir and the oral prednisolone began to decrease; however, a marked worsening of the scleritis occurred with the reduction of the daily dose; subsequently, methotrexate was introduced allowing the suspension of the prednisolone and led to clinical resolution of the scleritis. Conclusion. This report of anterior nodular scleritis caused by VZV argues in favor of an underlying immune-mediated component, requiring immunosuppressive therapy for clinical resolution. The PCR analysis of the aqueous humor was revealed to be a valuable technique and should be considered in cases of scleritis with poor response to treatment. PMID:27298747

  7. Nodular Scleritis Associated with Herpes Zoster Virus: An Infectious and Immune-Mediated Process

    PubMed Central

    Loureiro, Mónica; Rothwell, Renata; Fonseca, Sofia

    2016-01-01

    Purpose. To describe a case of anterior nodular scleritis, preceded by an anterior hypertensive uveitis, which was primarily caused by varicella zoster virus (VZV). Case Report. A 54-year-old woman presented with anterior uveitis of the right eye presumably caused by herpetic viral disease and was successfully treated. Two months later, she developed a nodular scleritis and started oral nonsteroidal anti-inflammatory without effect. A complete laboratory workup revealed positivity for HLA-B27; the infectious workup was negative. Therapy was changed to oral prednisolone and an incomplete improvement occurred. Therefore, a diagnostic anterior paracentesis was performed and the polymerase chain reaction (PCR) analysis revealed VZV. She was treated with valacyclovir and the oral prednisolone began to decrease; however, a marked worsening of the scleritis occurred with the reduction of the daily dose; subsequently, methotrexate was introduced allowing the suspension of the prednisolone and led to clinical resolution of the scleritis. Conclusion. This report of anterior nodular scleritis caused by VZV argues in favor of an underlying immune-mediated component, requiring immunosuppressive therapy for clinical resolution. The PCR analysis of the aqueous humor was revealed to be a valuable technique and should be considered in cases of scleritis with poor response to treatment. PMID:27298747

  8. Benign hepatocellular nodules of healthy liver: focal nodular hyperplasia and hepatocellular adenoma

    PubMed Central

    Roncalli, Massimo; Sciarra, Amedeo; Tommaso, Luca Di

    2016-01-01

    Owing to the progress of imaging techniques, benign hepatocellular nodules are increasingly discovered in the clinical practice. This group of lesions mostly arises in the context of a putatively normal healthy liver and includes either pseudotumoral and tumoral nodules. Focal nodular hyperplasia and hepatocellular adenoma are prototypical examples of these two categories of nodules. In this review we aim to report the main pathological criteria of differential diagnosis between focal nodular hyperplasia and hepatocellular adenoma, which mainly rests upon morphological and phenotypical features. We also emphasize that for a correct diagnosis the clinical context such as sex, age, assumption of oral contraceptives, associated metabolic or vascular disturbances is of paramount importance. While focal nodular hyperplasia is a single entity epidemiologically more frequent than adenoma, the latter is representative of a more heterogeneous group which has been recently and extensively characterized from a clinical, morphological, phenotypical and molecular profile. The use of the liver biopsy in addition to imaging and the clinical context are important diagnostic tools of these lesions. In this review we will survey their systematic pathobiology and propose a diagnostic algorithm helpful to increase the diagnostic accuracy of not dedicated liver pathologists. The differential diagnosis between so-called typical and atypical adenoma and well differentiated hepatocellular carcinoma will also be discussed. PMID:27189732

  9. Treatment of recurrent nodular goiters with percutaneous ethanol injection: a clinical study of twelve patients.

    PubMed

    Solymosi, Tamas; Gál, Istvan

    2003-03-01

    Twelve patients who had previously undergone thyroid surgery received percutaneous ethanol injection (PEI) treatment because of recurrent nodular goiter (3 with a toxic [TN], 2 with a nontoxic cystic [NCN], and 7 with a nontoxic solid nodule [NSN]). Two of the 12 had recurrent nerve palsy contralateral to the nodule. Each patient received a mean total dose of 0.88 mL of ethanol per milliliter of nodular volume. Ethanol was injected in a mean of 3.5 sessions for solid and 3 sessions for NCN. In most cases, a slight to moderate burning pain was experienced during and for 12-48 hours after PEI treatment, and one patient experienced temporary hoarseness. One patient with TN and 2 patients with NSN became hypothyroid, 7 patients with nontoxic nodules remained euthyroid, 1 with TN became euthyroid, and a previously hyperthyroid patient with TN became subclinically hyperthyroid 1-year posttherapy. The nodule shrank by more than 50% of the pretreatment volume in all patients (8.6 +/- 2.6 vs. 2.9 +/- 1.2 mL in TN, and 12.3 +/- 4.9 vs. 4.16 +/- 2.54 mL in nontoxic nodules, pretreatment vs. 1 year posttreatment volume, respectively). With regard to the increased risk of reoperation, PEI treatment can be proposed for patients with recurrent nodular goiter requiring surgery. PMID:12729476

  10. Nestin expression is associated with aggressive cutaneous melanoma of the nodular type.

    PubMed

    Ladstein, Rita G; Bachmann, Ingeborg M; Straume, Oddbjørn; Akslen, Lars A

    2014-03-01

    The intermediate filament nestin, a neural stem-cell marker, is reported to be expressed more strongly in melanomas compared with benign melanocytic lesions, and increasingly expressed in advanced melanoma stages. However, the prognostic impact of nestin on melanoma has not been well elucidated. The aim of the present study was to evaluate the prognostic influence of nestin expression in cutaneous melanoma in comparison with standard clinico-pathologic variables. In a large series of nodular cutaneous melanoma (n=348), nestin expression was assessed by immunohistochemistry using tissue microarray (TMA) sections. For comparison, nestin staining in corresponding metastases as well as in superficial spreading melanomas and benign nevi was also examined. Nestin was expressed to varying degrees in a majority of nodular melanomas (92%), and was significantly associated with increased tumor thickness, high mitotic count, and the presence of ulceration and tumor necrosis. Also, expression was stronger in the nodular type than in superficial spreading melanomas and benign nevi, but without significant difference when compared with matched metastases from the former. Importantly, strong expression of nestin was significantly associated with reduced survival in multivariate analysis. In conclusion, increased nestin expression was associated with aggressive melanoma features, with independent prognostic impact on multivariate survival analysis when compared with clinico-pathologic factors. PMID:24030749

  11. 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 ...

  12. Benign nodular hepatocellular lesions caused by abnormal hepatic circulation: etiological analysis and introduction of a new concept.

    PubMed

    Kondo, F

    2001-12-01

    Problems in definitive diagnosis and etiology of various benign nodular hepatocellular lesions were evaluated. Of these lesions, focal nodular hyperplasia (FNH), nodular regenerative hyperplasia (NRH), nodular lesions associated with idiopathic portal hypertension (IPH), non-cirrhotic large regenerative nodules (LRN), hepatocellular adenoma (HA)-like hyperplastic nodules, and partial nodular transformation (PNT) have been suggested to be related to abnormal hepatic circulation. However, the following points are considered to need further clarification: (i) is the abnormal circulation caused by thrombosis, vasculitis, or congenital anomaly?; (ii) is thrombosis a cause or a result of congestion?; (iii) are impaired blood vessels primarily the portal veins or arteries?; (iv) how are these disorders related to various syndromes, immunological abnormalities and abnormal blood flow of other organs, which are reported to coexist with these lesions often?; and (v) how should non-typical cases, which differ from typical cases, be interpreted? In addition, a concept that may lead to solving these problems (anomalous portal tract syndrome; a hypothesis that congenital vascular anomaly is the origin of these benign nodular hepatocellular lesions) was introduced. PMID:11851827

  13. Multiple sclerosis and Natalizumab.

    PubMed

    Fiore, Domenico

    2007-01-01

    Natalizumab (NTZ), defined as "the first of a new class of drugs known as elective adhesion molecule inhibitors" was developed at the beginning of 2003 to treat relapsing-remitting multiple sclerosis (MS) and was approved in the United States in November 2004. In February 2005, the production of NTZ was suspended by Producer Firms on account of the occurrence of two serious adverse events: two patients who had been taking NTZ manifested a progressive multifocal leukoencephalopathy; the patients showed progressive neurologic deterioration, initially believed to be a worsening of the pre-existing condition of MS. In March 2006, the Advisory Panel of the Food and Drug Administration voted unanimously in favor of the return of NTZ on the market with the majority of the panel also recommending that NTZ be considered the first choice of treatment in MS. NTZ should only be administered to patients who are not taking other medicines for MS and only in highly specialized centers. Inhibiting the adhesion of the circulating immune-competent cells to the vascular endothelium and reducing the precipitation of the circulating immune complexes (CICs) into the central nervous system, NTZ causes the level of the CICs to rise to values that inhibit the production of the antibodies (above all of the immunoglobulin Ms); because of the relative lack of antibodies, the pertussis toxins, no longer complexed, attack the nerve epithelia directly. We must conclude that 1) in remittent MS, between one attack and another (successive re-infection of bordetella pertussis) there are no CICs that can precipitate into the central nervous system, and thus the treatment with NTZ is useless and superfluous; 2) in chronic-progressive MS, the final result of the treatment with NTZ will be that of transforming MS into lateral amyotrophic sclerosis or progressive multifocal leukoencephalopathy; 3) in progressive MS, however, NTZ can be of considerable use in the first 2 months of antibiotic treatment to

  14. Disability in multiple sclerosis

    PubMed Central

    Chamot, Eric; Salter, Amber R.; Cutter, Gary R.; Bacon, Tamar E.; Herbert, Joseph

    2013-01-01

    Objective: To create a reference table of disability outcomes in multiple sclerosis (MS) that would enable patients to rank their disability relative to others' with similar disease duration and to develop a cost-effective research tool for comparing MS severity across patient populations and time periods. Methods: The North American Research Committee on Multiple Sclerosis (NARCOMS) Registry collects disability data from patients with MS on a validated, 9-point Patient-Determined Disease Steps (PDDS) scale. We compiled the Disability Expectancy Table, which displays cumulative frequencies of PDDS scores for each year of disease duration, from 0 to 45 years. We also tabulated disease duration–adjusted mean ranks of PDDS scores, referred to as Patient-derived MS Severity Scores (P-MSSS). Results: The cohort consisted of 27,918 NARCOMS enrollees, 72.7% of whom were female and 90.1% of whom were white. Mean age at symptom onset was 30.1 ± 10.1 years, and age at enrollment was 47.1 ± 11.0 years. The Disability Expectancy Table and P-MSSS afford a detailed overview of disability outcomes in a large MS cohort over a 45-year period. In the first year of disease, 15% of patients reported need of ambulatory aid, and 4% needed bilateral assistance or worse; after 45 years of disease, 76% of patients required ambulatory aid, and 52% bilateral assistance or worse. Proportion of patients who reported minimal or no interference in daily activities (PDDS ≤ 1) declined from 63% in the first year to 8% after 45 years of disease. Conclusion: The Disability Expectancy Table allows individual patients to determine how their disability ranks relative to NARCOMS enrollees with the same disease duration. P-MSSS may be used to compare disability across patient populations and to track disease progression in patient cohorts. P-MSSS does not require a formal neurologic examination and may therefore find wide applicability as a practical and cost-effective outcome measure in

  15. Viruses and Multiple Sclerosis

    PubMed Central

    Owens, Gregory P.; Gilden, Don; Burgoon, Mark P.; Yu, Xiaoli; Bennett, Jeffrey L.

    2012-01-01

    Multiple sclerosis (MS) is a chronic demyelinating disorder of unknown etiology, possibly caused by a virus or virus-triggered immunopathology. The virus might reactivate after years of latency and lyse oligodendrocytes, as in progressive multifocal leukoencephalopathy, or initiate immunopathological demyelination, as in animals infected with Theiler’s murine encephalomyelitis virus or coronaviruses. The argument for a viral cause of MS is supported by epidemiological analyses and studies of MS in identical twins, indicating that disease is acquired. However, the most important evidence is the presence of bands of oligoclonal IgG (OCBs) in MS brain and CSF that persist throughout the lifetime of the patient. OCBs are found almost exclusively in infectious CNS disorders, and antigenic targets of OCBs represent the agent that causes disease. Here, the authors review past attempts to identify an infectious agent in MS brain cells and discuss the promise of using recombinant antibodies generated from clonally expanded plasma cells in brain and CSF to identify disease-relevant antigens. They show how this strategy has been used successfully to analyze antigen specificity in subacute sclerosing panencephalitis, a chronic encephalitis caused by measles virus, and in neuromyelitis optica, a chronic autoimmune demyelinating disease produced by antibodies directed against the aquaporin-4 water channel. PMID:22130640

  16. Albumin and multiple sclerosis.

    PubMed

    LeVine, Steven M

    2016-01-01

    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. PMID:27067000

  17. 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

  18. Astrocytes in multiple sclerosis.

    PubMed

    Ludwin, Samuel K; Rao, Vijayaraghava Ts; Moore, Craig S; Antel, Jack P

    2016-08-01

    Recent experimental and clinical studies on astrocytes are unraveling the capabilities of these multi-functional cells in normal homeostasis, and in central nervous system (CNS) disease. This review focuses on understanding their behavior in all aspects of the initiation, evolution, and resolution of the multiple sclerosis (MS) lesion. Astrocytes display remarkable flexibility and variability of their physical structure and biochemical output, each aspect finely tuned to the specific stage and location of the disease, participating in both pathogenic and beneficial changes seen in acute and progressive forms. As examples, chemo-attractive or repulsive molecules may facilitate the entry of destructive immune cells but may also aid in the recruitment of oligodendrocyte precursors, essential for repair. Pro-inflammatory cytokines may attack pathogenic cells and also destroy normal oligodendrocytes, myelin, and axons. Protective trophic factors may also open the blood-brain barrier and modulate the extracellular matrix to favor recruitment and persistence of CNS-specific immune cells. A chronic glial scar may confer structural support following tissue loss and inhibit ingress of further noxious insults and also inhibit migration of reparative cells and molecules into the damaged tissue. Continual study into these processes offers the therapeutic opportunities to enhance the beneficial capabilities of these cells while limiting their destructive effects. PMID:27207458

  19. Viruses and multiple sclerosis.

    PubMed

    Owens, Gregory P; Gilden, Don; Burgoon, Mark P; Yu, Xiaoli; Bennett, Jeffrey L

    2011-12-01

    Multiple sclerosis (MS) is a chronic demyelinating disorder of unknown etiology, possibly caused by a virus or virus-triggered immunopathology. The virus might reactivate after years of latency and lyse oligodendrocytes, as in progressive multifocal leukoencephalopathy, or initiate immunopathological demyelination, as in animals infected with Theiler's murine encephalomyelitis virus or coronaviruses. The argument for a viral cause of MS is supported by epidemiological analyses and studies of MS in identical twins, indicating that disease is acquired. However, the most important evidence is the presence of bands of oligoclonal IgG (OCBs) in MS brain and CSF that persist throughout the lifetime of the patient. OCBs are found almost exclusively in infectious CNS disorders, and antigenic targets of OCBs represent the agent that causes disease. Here, the authors review past attempts to identify an infectious agent in MS brain cells and discuss the promise of using recombinant antibodies generated from clonally expanded plasma cells in brain and CSF to identify disease-relevant antigens. They show how this strategy has been used successfully to analyze antigen specificity in subacute sclerosing panencephalitis, a chronic encephalitis caused by measles virus, and in neuromyelitis optica, a chronic autoimmune demyelinating disease produced by antibodies directed against the aquaporin-4 water channel. PMID:22130640

  20. Thermoregulation in multiple sclerosis

    PubMed Central

    Wilson, Thad E.; White, Andrea T.; Frohman, Elliot M.

    2010-01-01

    Multiple sclerosis (MS) is a progressive neurological disorder that disrupts axonal myelin in the central nervous system. Demyelination produces alterations in saltatory conduction, slowed conduction velocity, and a predisposition to conduction block. An estimated 60–80% of MS patients experience temporary worsening of clinical signs and neurological symptoms with heat exposure. Additionally, MS may produce impaired neural control of autonomic and endocrine functions. This review focuses on five main themes regarding the current understanding of thermoregulatory dysfunction in MS: 1) heat sensitivity; 2) central regulation of body temperature; 3) thermoregulatory effector responses; 4) heat-induced fatigue; and 5) countermeasures to improve or maintain function during thermal stress. Heat sensitivity in MS is related to the detrimental effects of increased temperature on action potential propagation in demyelinated axons, resulting in conduction slowing and/or block, which can be quantitatively characterized using precise measurements of ocular movements. MS lesions can also occur in areas of the brain responsible for the control and regulation of body temperature and thermoregulatory effector responses, resulting in impaired neural control of sudomotor pathways or neural-induced changes in eccrine sweat glands, as evidenced by observations of reduced sweating responses in MS patients. Fatigue during thermal stress is common in MS and results in decreased motor function and increased symptomatology likely due to impairments in central conduction. Although not comprehensive, some evidence exists concerning treatments (cooling, precooling, and pharmacological) for the MS patient to preserve function and decrease symptom worsening during heat stress. PMID:20671034

  1. Neuroimaging in multiple sclerosis.

    PubMed

    Zivadinov, Robert; Cox, Jennifer L

    2007-01-01

    Conventional magnetic resonance imaging (MRI) has routinely been used to improve the accuracy of multiple sclerosis (MS) diagnosis and prognosis. Metrics derived from conventional MRI are now routinely used to detect therapeutic effects and extend clinical observations. However, conventional MRI measures, such as the use of lesion volume and count of gadolinium-enhancing and T2 lesions, have insufficient sensitivity and specificity to reveal the true degree of pathological changes occurring in MS. They cannot distinguish between inflammation, edema, demyelination, Wallerian degeneration, and axonal loss. In addition, they do not show a reliable correlation with clinical measures of disability and do not provide a complete assessment of therapeutic outcomes. Recent neuropathologic studies of typical chronic MS brains reveal macroscopic demyelination in cortical and deep gray matter (GM) that cannot be detected by currently available MRI techniques. Therefore, there is a pressing need for the development of newer MRI techniques to detect these lesions. Newer metrics of MRI analysis, including T1-weighted hypointense lesions, central nervous system atrophy measures, magnetization transfer imaging, magnetic resonance spectroscopy, and diffusion tensor imaging, are able to capture a more global picture of the range of tissue alterations caused by inflammation and neurodegeneration. At this time, they provide the only proof--albeit indirect--that important occult pathology is occurring in the GM. However, evidence is increasing that these nonconventional MRI measures correlate better with both existing and developing neurological impairment and disability when compared to conventional metrics. PMID:17531854

  2. 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

  3. [Pathophysiology of multiple sclerosis].

    PubMed

    Smith, Kenneth J

    2006-06-30

    Patients with multiple sclerosis (MS) can exhibit an exceptionally wide variety of symptoms. This is largely due to the semi-random distribution of the lesions in the central nervous system (CNS). Most lesions occur in apparently "silent" areas in the brain, and so cause no detectable symptoms. The disease is therefore much more active than a mere clinical monitoring would suggest. Most symptoms are related to a loss of function. During the relapses, this is due to a failure of axonal conduction at the site of the lesion(s). The conduction block is caused by the local demyelination which prevents the saltatory conduction but also seemingly, to some extend, by the inflammation per se. Remissions are related to a recovery of function of the affected axons owing to a spreading of sodium channels along the demyelinated axolemma but also to cerebral functional plasticity and remyelination. However, nerve conduction remains slower and less secure than normal, easily altered by physico-chemical changes such as the increase in body temperature (Uhthoff's phenomenon). Remission is incomplete when the lesion has led to axonal transaction and therefore axonal loss. Progression in MS is mainly related to "slow-burning" diffuse and chronic axonal loss in a toxic inflammatory milieu. Lastly, some symptoms in MS are so-called "positive" arising from an acquired hyperexcitability of demyelinated axons and occur either spontaneously (e.g. paresthesias) or mechanically (e.g. Lhermitte's sign). PMID:16948217

  4. Thermoregulation in multiple sclerosis.

    PubMed

    Davis, Scott L; Wilson, Thad E; White, Andrea T; Frohman, Elliot M

    2010-11-01

    Multiple sclerosis (MS) is a progressive neurological disorder that disrupts axonal myelin in the central nervous system. Demyelination produces alterations in saltatory conduction, slowed conduction velocity, and a predisposition to conduction block. An estimated 60-80% of MS patients experience temporary worsening of clinical signs and neurological symptoms with heat exposure. Additionally, MS may produce impaired neural control of autonomic and endocrine functions. This review focuses on five main themes regarding the current understanding of thermoregulatory dysfunction in MS: 1) heat sensitivity; 2) central regulation of body temperature; 3) thermoregulatory effector responses; 4) heat-induced fatigue; and 5) countermeasures to improve or maintain function during thermal stress. Heat sensitivity in MS is related to the detrimental effects of increased temperature on action potential propagation in demyelinated axons, resulting in conduction slowing and/or block, which can be quantitatively characterized using precise measurements of ocular movements. MS lesions can also occur in areas of the brain responsible for the control and regulation of body temperature and thermoregulatory effector responses, resulting in impaired neural control of sudomotor pathways or neural-induced changes in eccrine sweat glands, as evidenced by observations of reduced sweating responses in MS patients. Fatigue during thermal stress is common in MS and results in decreased motor function and increased symptomatology likely due to impairments in central conduction. Although not comprehensive, some evidence exists concerning treatments (cooling, precooling, and pharmacological) for the MS patient to preserve function and decrease symptom worsening during heat stress. PMID:20671034

  5. Environmental factors in multiple sclerosis.

    PubMed

    Pantazou, Vasiliki; Schluep, Myriam; Du Pasquier, Renaud

    2015-04-01

    Although multiple sclerosis (MS) is recognized as a disorder involving the immune system, the interplay of environmental factors and individual genetic susceptibility seems to influence MS onset and clinical expression, as well as therapeutic responsiveness. Multiple human epidemiological and animal model studies have evaluated the effect of different environmental factors, such as viral infections, vitamin intake, sun exposure, or still dietary and life habits on MS prevalence. Previous Epstein-Barr virus infection, especially if this infection occurs in late childhood, and lack of vitamin D (VitD) currently appear to be the most robust environmental factors for the risk of MS, at least from an epidemiological standpoint. Ultraviolet radiation (UVR) activates VitD production but there are also some elements supporting the fact that insufficient UVR exposure during childhood may represent a VitD-independent risk factor of MS development, as well as negative effect on the clinical and radiological course of MS. Recently, there has been a growing interest in the gut-brain axis, a bidirectional neuro-hormonal communication system between the intestinal microbiota and the central nervous system (CNS). Indeed, components of the intestinal microbiota may be pro-inflammatory, promote the migration of immune cells into the CNS, and thus be a key parameter for the development of autoimmune disorders such as MS. Interestingly most environmental factors seem to play a role during childhood. Thus, if childhood is the most fragile period to develop MS later in life, preventive measures should be applied early in life. For example, adopting a diet enriched in VitD, playing outdoor and avoiding passive smoking would be extremely simple measures of primary prevention for public health strategies. However, these hypotheses need to be confirmed by prospective evaluations, which are obviously difficult to conduct. In addition, it remains to be determined whether and how Vit

  6. 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

  7. [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. PMID:25732942

  8. Injectable Multiple Sclerosis Medications

    PubMed Central

    Tran, Zung Vu

    2012-01-01

    Although injection-site reactions (ISRs) occur with US Food and Drug Administration–approved injectable disease-modifying therapies (DMTs) for multiple sclerosis, there are currently few reports of real-world data on ISR management strategies or possible correlations between ISRs and patient demographics, disease characteristics, and missed injections. Patient-reported data on the use of DMTs, patient demographic and disease characteristics, missed injections, and ISR reduction strategies were collected via e-mail, a patient registry (www.ms-cam.org), and a Web-based survey. Of the 1380 respondents, 1201 (87%) indicated that they had used injectable DMTs, of whom 377 (31%) had used intramuscular (IM) interferon beta-1a (IFNβ-1a), 172 (14%) had used subcutaneous (SC) IFNβ-1a, 183 (15%) had used SC IFNβ-1b, and 469 (39%) had used glatiramer acetate (GA). The majority of respondents were older (73% were ≥40 years), female (79%), married or living with a partner (72%), white (94%), and nonsmoking (82%). Injection-site reaction incidence, grouped according to severity, varied among DMTs, with IM IFNβ-1a causing significantly (P < .001) fewer mild, moderate, or severe ISRs than the other therapies. Female sex and younger age were significantly (P < .05) associated with more moderate ISRs among users of IM IFNβ-1a, SC IFNβ-1b, and GA. Nonwhites reported severe ISRs more often than whites. For all DMTs injection-site massage and avoidance of sensitive sites were the most frequently used strategies to minimize ISRs. These data may help identify patients with characteristics associated with a higher risk for ISRs, allowing health-care professionals to provide anticipatory guidance to patients at risk for decreased adherence or discontinuation. PMID:24453732

  9. Zinc in Multiple Sclerosis

    PubMed Central

    Frederiksen, Jette Lautrup

    2016-01-01

    In the last 35 years, zinc (Zn) has been examined for its potential role in the disease multiple sclerosis (MS). This review gives an overview of the possible role of Zn in the pathogenesis of MS as well as a meta-analysis of studies having measured Zn in serum or plasma in patients with MS. Searching the databases PubMed and EMBASE as well as going through reference lists in included articles 24 studies were found measuring Zn in patients with MS. Of these, 13 met inclusion criteria and were included in the meta-analysis. The result of the meta-analysis shows a reduction in serum or plasma Zn levels in patients with MS with a 95% CI of [−3.66, −0.93] and a p value of .001 for the difference in Zn concentration in μM. One of six studies measuring cerebrospinal fluid, Zn levels found a significant increase in patients with MS with controls. The studies measuring whole blood and erythrocyte Zn levels found up to several times higher levels of Zn in patients with MS compared with healthy controls with decreasing levels during attacks in relapsing-remitting MS patients. Future studies measuring serum or plasma Zn are encouraged to analyze their data through homogenous MS patient subgroups on especially age, sex, and disease subtype since the difference in serum or plasma Zn in these subgroups have been found to be significantly different. It is hypothesized that local alterations of Zn may be actively involved in the pathogenesis of MS. PMID:27282383

  10. 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…

  11. 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…

  12. 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.…

  13. Therapeutic approaches to disease modifying therapy for multiple sclerosis in adults: an Australian and New Zealand perspective: part 3 treatment practicalities and recommendations. MS Neurology Group of the Australian and New Zealand Association of Neurologists.

    PubMed

    Broadley, Simon A; Barnett, Michael H; Boggild, Mike; Brew, Bruce J; Butzkueven, Helmut; Heard, Robert; Hodgkinson, Suzanne; Kermode, Allan G; Lechner-Scott, Jeannette; Macdonell, Richard A L; Marriott, Mark; Mason, Deborah F; Parratt, John; Reddel, Stephen W; Shaw, Cameron P; Slee, Mark; Spies, Judith; Taylor, Bruce V; Carroll, William M; Kilpatrick, Trevor J; King, John; McCombe, Pamela A; Pollard, John D; Willoughby, Ernest

    2014-11-01

    In this third and final part of our review of multiple sclerosis (MS) treatment we look at the practical day-to-day management issues that are likely to influence individual treatment decisions. Whilst efficacy is clearly of considerable importance, tolerability and the potential for adverse effects often play a significant role in informing individual patient decisions. Here we review the issues surrounding switching between therapies, and the evidence to assist guiding the choice of therapy to change to and when to change. We review the current level of evidence with regards to the management of women in their child-bearing years with regards to recommendations about treatment during pregnancy and whilst breast feeding. We provide a summary of recommended pre- and post-treatment monitoring for the available therapies and review the evidence with regards to the value of testing for antibodies which are known to be neutralising for some therapies. We review the occurrence of adverse events, both the more common and troublesome effects and those that are less common but have potentially much more serious outcomes. Ways of mitigating these risks and managing the more troublesome adverse effects are also reviewed. Finally, we make specific recommendations with regards to the treatment of MS. It is an exciting time in the world of MS neurology and the prospects for further advances in coming years are high. PMID:24993136

  14. 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

  15. Mammotome biopsy under ultrasound control in the diagnostics and treatment of nodular breast lesions - own experience.

    PubMed

    Kibil, Wojciech; Hodorowicz-Zaniewska, Diana; Kulig, Jan

    2012-05-01

    Mammotome biopsy is an effective, minimally invasive, novel technique used in the verification of breast lesions.The aim of the study was to assess the value of ultrasound-guided vacuum-assisted core needle biopsy (mammotome biopsy) in the diagnostics and treatment of nodular breast lesions, considering own data.Material and methods. Analysis comprised 1183 mammotome biopsies under ultrasound control performed in 1177 female patients during the period between 2000 and 2010, at the Regional Clinic for Early Diagnostics and Treatment of Breast Lesions, I Chair and Department of General Surgery, Jagiellonian University, Collegium Medicum.Results. The average patient age amounted to 41.7 years. The size of the investigated lesions ranged between 4 and 65 mm (mean - 12 mm). The histopathological examination result was as follows: fibrocystic lesions (n=285), adenofibroma (n=477), adenosis sclerosans (n=188), hyperplasia without atypy (n=58), phyllode tumor (n=2), papilloma (n=14), hamartoma (n=1), atypical hyperplasia (n=25), in situ ductal carcinoma (n=4), in situ lobular carcinoma (n=5), infiltrating ductal carcinoma (n=114), infiltrating lobular carcinoma (n=4), non-diagnostic result (n=6). The histopathological diagnosis was obtained in 99.5% of cases. Patients diagnosed with atypical hyperplasia or cancer were qualified for surgery, according to accepted standards. The presence of a hematoma was the most common complication after the biopsy, observed in 16.5% of patients.Conclusions. The obtained results confirmed the high value of ultrasound-guided biopsies in the diagnostics of nodular breast lesions. The method is safe, minimally invasive, with few complications, providing a good cosmetic effect. In case of benign lesions with a diameter of less than 15 mm the mammotome biopsy enables to completely excise the lesions, being an alternative to open surgical biopsies. The mammotome biopsy should become the method of choice considering the diagnostics of nodular

  16. 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.

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

    PubMed

    Wang, Z Y; Boice, J D; Wei, L X; Beebe, G W; Zha, Y R; Kaplan, M M; Tao, Z F; Maxon, H R; 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. PMID:2313719

  18. Management of Thyroid Nodular Disease: Current Cytopathology Classifications and Genetic Testing.

    PubMed

    Kuo, Lindsay E; Kelz, Rachel R

    2016-01-01

    Preoperative diagnosis and operative planning for patients with thyroid nodules has improved over the last decade. The Bethesda criteria for cytopathologic classification of thyroid nodule aspirate has enhanced communication between pathologists and clinicians. Multiple genetic tests, including molecular markers and the Afirma gene expression classifier, have been developed and validated. The tests, along with clinical and radiologic information, are most useful in the setting of indeterminate cytology. The development of an updated diagnostic and treatment algorithm incorporating all available tests will help standardize the management of patients with nodular thyroid disease and reduce variation and inefficiencies in care. PMID:26610771

  19. Nodular regenerative hyperplasia related portal hypertension in a patient with hypogammaglobulinaemia

    PubMed Central

    Lal, Barun Kumar; Stanley, Adrian

    2013-01-01

    Nodular regenerative hyperplasia (NRH) of liver is a relatively rare liver disorder, but a frequent cause of noncirrhotic portal hypertension. We present a lady with common variable immune deficiency who presented with upper gastrointestinal bleeding and deranged liver function tests but preserved synthetic function. Upper gastrointestinal endoscope showed bleeding gastric varices and non-bleeding oesophageal varices. Although her oesophageal varices were eradicated by repeated endoscopic band ligation, the gastric varices failed to resolve after repeated endoscopic histocryl injection and she eventually needed transjugular intrahepatic portosystemic shunt placement. Liver biopsy showed NRH. We review the association of hypogammaglobinaemia and NRH and discuss the appropriate management of portal hypertension in NRH. PMID:23801845

  20. Nodular regenerative hyperplasia related portal hypertension in a patient with hypogammaglobulinaemia.

    PubMed

    Lal, Barun Kumar; Stanley, Adrian

    2013-06-14

    Nodular regenerative hyperplasia (NRH) of liver is a relatively rare liver disorder, but a frequent cause of noncirrhotic portal hypertension. We present a lady with common variable immune deficiency who presented with upper gastrointestinal bleeding and deranged liver function tests but preserved synthetic function. Upper gastrointestinal endoscope showed bleeding gastric varices and non-bleeding oesophageal varices. Although her oesophageal varices were eradicated by repeated endoscopic band ligation, the gastric varices failed to resolve after repeated endoscopic histocryl injection and she eventually needed transjugular intrahepatic portosystemic shunt placement. Liver biopsy showed NRH. We review the association of hypogammaglobinaemia and NRH and discuss the appropriate management of portal hypertension in NRH. PMID:23801845

  1. Reactive Nodular Fibrous Pseudotumor: Case Report and Review of the Literature

    PubMed Central

    Salihi, Rawand; Moerman, Philippe; Timmerman, Dirk; Van Schoubroeck, Dominique; Op de beeck, Katya; Vergote, Ignace

    2014-01-01

    We will describe a case of a patient diagnosed with a rare identity of a benign lesion, “reactive nodular fibrous pseudotumor” (RNFP). It is a tumor which preoperatively can present as a malignant tumor and is only reported in 19 cases. According to the very limited amount of information on this tumor in the literature it is mostly seen after trauma or intraperitoneal inflammation. Our case is the second one of RNFP associated with endometriosis, which is a frequently seen intraperitoneal inflammation process in women. Knowledge that these large pseudotumoral lesions can occur is important to direct the management of these patients. PMID:24800089

  2. Nodular fasciitis in finger simulating soft tissue malignancy☆☆☆

    PubMed Central

    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. PMID:26229780

  3. Giant benign nodular hidradenoma of the shoulder: A rare tumor in orthopedic practice

    PubMed Central

    Singhal, Vibhore; Sharma, Sansar C.; Anil, Juyal; Sachan, P. K.; Harsh, Meena; Singhal, Surina; Raghuvanshi, Shailendra

    2010-01-01

    A clear cell hidradenoma is a rare dermal tumor, which is believed to originate from the apical portion of the sweat glands. The usual size reported is 5–30 mm. It is generally found in the head, face, and upper extremity regions. This lesion has not been reported to be large enough to impinge a joint range of motion. Hence, its description in the orthopedic literature is extremely rare. We present a giant benign nodular hidradenoma presenting as painful restriction of the right shoulder joint in a 35-year-old male. PMID:21655004

  4. 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. PMID:27572867

  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. 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

  7. 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

  8. Electric-Field Enhancement by Nodular Defects in Multilayer Coatings Irradiated at Normal and 45 (degree) Incidence

    SciTech Connect

    Stolz, C J; Genin, F Y; Pistor,T V

    2003-09-18

    The standing-wave electric-field profile within multilayer coatings is significantly perturbated by a nodular defect. The intensity, which is proportional to the electric field squared, is increased in the high index material by {>=}3x at normal incidence and {>=}12x at 45 degrees incidence angle. Therefore it is not surprising that nodular defects are initiation sites of laser-induced damage. In this study, the impact of reflectance-band centering and incident angle are explored for a 1 {micro}m diameter nodular defect seed overcoated with a 24 layer high-reflector constructed of quarter-wave thick alternating layers of hafnia and silica. The modeling was performed using a three-dimensional finite-element analysis code.

  9. 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. PMID:25838447

  10. 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

  11. Biology, clinical course and management of nodular lymphocyte-predominant hodgkin lymphoma.

    PubMed

    Nogová, Lucia; Rudiger, Thomas; Engert, Andreas

    2006-01-01

    Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) differs in histological and clinical presentation from classical Hodgkin lymphoma (cHL). The typical morphologic signs of NLPHL are atypical "lymphocytic and histiocytic" (L&H) cells, which are surrounded by a non-neoplastic nodular background of small lymphocytes of B-cell origin. The NLPHL cells are positive for CD45, CD19, CD20, CD22 and CD79a, but lack expression of CD15 and CD30, the typical markers for cHL. NLPHL patients are predominantly of male gender with a median age of 37 years. Patients often present in early stages (63%) and rarely have B-symptoms (9%). Treatment of NLPHL patients using standard Hodgkin lymphoma (HL) protocols leads to complete remission (CR) in more than 95% of patients. Survival and freedom from treatment failure (FFTF) are worse in advanced-stage patients than in early-stage patients. Thus, patients in advanced and in early stages with unfavorable risk factors are treated similarly to cHL patients. In contrast, patients with early-stage NLPHL without risk factors can be sufficiently treated with reduced intensity programs having less severe adverse effects. As a result, treatment of early NLPHL is less clearly defined, including radiotherapy in extended field (EF) or involved field (IF) technique, combined modality treatment, and, more recently, monoclonal antibody rituximab. Watch and wait strategy plays an important role in pediatric oncology to avoid adverse effects associated with therapy. PMID:17124071

  12. Potentiation of fibroblast growth by nodular sclerosing Hodgkin's disease cell cultures.

    PubMed

    Newcom, S R; O'Rourke, L

    1982-07-01

    Cell cultures were established from 8 lymph nodes replaced by nodular sclerosing Hodgkin's disease. Serum-containing and serum-free conditioned media from these cultures potentiated fibroblast growth and were found to be consistently more potent than fibroblast growth factor, 100 ng/ml, every other day. Both a proliferative response and transformation-like growth were observed using BALB/c 3T3 cells, human diploid fibroblasts, and human embryonic fibroblasts as target cells. The Hodgkin's disease growth factor(s) was not produced by fibroblasts or lymphocytes in the Hodgkin's cultures and was most potent when the Hodgkin's cultures had been enriched with Hodgkin's giant cells. Removal of normal macrophages decreased the proliferative activity but did not eliminate it or nonadherent growth of 3T3 cells in agar. Control cultures of 6 nonmalignant lymph nodes, a Lennert's lymphoma, a mixed cellularity Hodgkin's disease lymph node, and a malignant histiocytosis cell line suggested that among lymph node disorders, this feature may be relatively specific for nodular sclerosing Hodgkin's disease. PMID:6211204

  13. Primary localized cutaneous nodular amyloidosis of the feet: a case report and review of the literature.

    PubMed

    Ritchie, Simon A; Beachkofsky, Thomas; Schreml, Stephan; Gaspari, Anthony; Hivnor, Chad M

    2014-02-01

    Primary localized cutaneous nodular amyloidosis (PLCNA) is a rare disorder that manifests as the cutaneous formation of nodules composed of light-chain amyloid. Although the type of amyloid deposit is similar to primary systemic amyloidosis, there seems to be little, if any, crossover between the 2 diseases. Because reports of PLCNA are sparse, there is no established protocol for treating this disease. This case report presents a 42-year-old man with a visually striking presentation of PLCNA on both feet with some of the lesions possibly being secondary to trauma, a rare phenomenon. The lesions had been present for more than 4 years, and there were no signs or symptoms of systemic amyloidosis. The lesions responded well to a combination of complete curettage followed by CO2; laser ablation. Primary localized cutaneous nodular amyloidosis is rare and difficult to treat, with high rates of recurrence and a concern for progression to systemic amyloidosis. The diagnosis, workup, treatment, and monitoring of PLCNA also are discussed. PMID:24605345

  14. 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.

  15. Physical insight toward electric field enhancement at nodular defects in optical coatings.

    PubMed

    Cheng, Xinbin; Tuniyazi, Abudusalamu; Wei, Zeyong; Zhang, Jinlong; Ding, Tao; Jiao, Hongfei; Ma, Bin; Li, Hongqiang; Li, Tongbao; Wang, Zhanshan

    2015-04-01

    Although the finite-difference time-domain (FDTD) technique has been prevailingly used to calculate the electric field intensity (EFI) enhancement at nodular defects in high-reflection (HR) coatings, the physical insight as to how the nodular features contribute to the intensified EFI is not explicitly revealed yet, which in turn limits the solutions that improve the laser-induced damage threshold (LIDT) of nodules by decreasing the EFI enhancement. Here, a simplified model is proposed to describe the intensified EFI in nodules: 1) the nodule works as a microlens and its focal length can be predicted using a simple formula, 2) the portion of incident light that penetrates through the HR coating can be estimated by knowing the angular dependent transmittance (ADT) of the nodule, 3) strong EFI enhancement is created when the focal point is within the nodule and simultaneously a certain portion of light penetrates to the focal position. In the light of the proposed model, a broadband HR coating was used to reduce the EFI enhancement at the seed by a factor about 10, which leads to a 20 times increment of the LIDT. This work therefore not only deepens the physical understanding of EFI enhancement at nodules but also provides a new way to increase the LIDT of multilayer reflective optics. PMID:25968699

  16. Psychosocial Functioning of Adult Epileptic and MS Patients and Adult Normal Controls on the WPSI.

    ERIC Educational Resources Information Center

    Tan, Siang-Yang

    1986-01-01

    Psychosocial functioning of adult epileptic outpatients as assessed by the Washington Psychosocial Seizure Inventory (WPSI) was compared to that of adult multiple sclerosis (MS) outpatients and normal subjects. When only valid WPSI profiles were considered, the only significant finding was that the epilepsy group and the MS group had more…

  17. 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

  18. 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…

  19. 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

  20. Genetic factors and systemic sclerosis.

    PubMed

    Murdaca, Giuseppe; Contatore, Miriam; Gulli, Rossella; Mandich, Paola; Puppo, Francesco

    2016-05-01

    Systemic sclerosis (SSc) is a rare connective tissue disease of unknown etiology characterized by chronic inflammation and fibrosis of the skin, vascular abnormalities, and variable involvement of organs including kidneys, gastrointestinal tract, heart, and lungs. SSc shows a complex etiology in which both environmental and genetic factors seem to influence the onset and outcome of the disease. We provide an extensive overview of the genetic factors and epigenetic modifications and what their knowledge has revealed in terms of etiopathogenesis of SSc. PMID:26826434

  1. 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. PMID:18345425

  2. [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. PMID:25732948

  3. 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

  4. Coping with Multiple Sclerosis Scale

    PubMed Central

    Parkerson, Holly A.; Kehler, Melissa D.; Sharpe, Donald

    2016-01-01

    Background: The Coping with Multiple Sclerosis Scale (CMSS) was developed to assess coping strategies specific to multiple sclerosis (MS). Despite its wide application in MS research, psychometric support for the CMSS remains limited to the initial factor analytic investigation by Pakenham in 2001. Methods: The current investigation assessed the factor structure and construct validity of the CMSS. Participants with MS (N = 453) completed the CMSS, as well as measures of disability related to MS (Multiple Sclerosis Impact Scale), quality of life (World Health Organization Quality of Life Brief Scale), and anxiety and depression (Hospital Anxiety and Depression Scale). Results: The original factor structure reported by Pakenham was a poor fit to the data. An alternate seven-factor structure was identified using exploratory factor analysis. Although there were some similarities with the existing CMSS subscales, differences in factor content and item loadings were found. Relationships between the revised CMSS subscales and additional measures were assessed, and the findings were consistent with previous research. Conclusions: Refinement of the CMSS is suggested, especially for subscales related to acceptance and avoidance strategies. Until further research is conducted on the revised CMSS, it is recommended that the original CMSS continue to be administered. Clinicians and researchers should be mindful of lack of support for the acceptance and avoidance subscales and should seek additional scales to assess these areas. PMID:27551244

  5. The Immunophenotype of Nodular Variant of Medullary Carcinoma of the Breast.

    PubMed

    Reyes, Carolina; Nadji, Mehrdad

    2015-10-01

    The histologic and immunohistochemical profile of typical medullary carcinomas (TMC) of the breast are well established. Among the strict histologic criteria for the diagnosis of TMC is complete circumscription of tumor with pushing borders. Those tumors that do not fulfill all morphologic requirements of TMC are designated as atypical medullary carcinomas (AMC). We herewith describe the histology and immunophenotype of a heretofore undescribed variant of TMC composed of multiple distinctly separate nodules that otherwise meet all other histologic and immunohistochemical phenotypes of TMC. Among 2952 cases of infiltrating mammary carcinomas, 111 (3.8%) met the strict criteria for TMC, including positivity for HLA-DR. Nine of these tumors were composed of multiple separate noncoalescing nodules. Immunohistochemical stains for ER, PR, HER2, and HLA-DR, as well as for p53 and Ki-67 were repeated on these nodular forms. Staining for p63 was used to identify possible intraductal components of these tumors. The age of patients ranged from 34 to 53 years. All 9 patients had negative sentinel lymph nodes. Tumors ranged in the overall size from 2.2 to 3.9 cm and were composed of 3 to 6 distinct nodules ranging in size from 0.2 to 1.1 cm surrounding a larger main tumor nodule. The nodules were composed of syncytial groups of large cells with atypical nuclei and prominent nucleoli. A lymphoplasmacytic infiltrate was present within and around each satellite nodule. Serial sections did not show coalescing of the nodules into a single tumor mass. Similarly, staining for p63 failed to support the possibility of nodules representing intraductal components of main tumor. All tumors were negative for ER, PR, and HER2, but positive for HLA-DR. Eight of 9 tumors were diffusely positive for p53 and all 9 showed a high proliferation index in >70% of tumor cells with Ki-67. We conclude that the nodular variants of medullary carcinomas (nTMC) of the breast are uncommon forms of TMC. They

  6. Draft Genome Sequence of Helicobacter suis Strain SNTW101, Isolated from a Japanese Patient with Nodular Gastritis.

    PubMed

    Matsui, Hidenori; Takahashi, Tetsufumi; Murayama, Somay Y; Uchiyama, Ikuo; Yamaguchi, Katsushi; Shigenobu, Shuji; Suzuki, Masato; Rimbara, Emiko; Shibayama, Keigo; Øverby, Anders; Nakamura, Masahiko

    2016-01-01

    We present here the draft whole-genome shotgun sequence of an uncultivated strain SNTW101 of Helicobacter suis, which has been maintained in the stomachs of mice. This strain was originally isolated from gastric biopsy specimens of a urea breath test-negative Japanese patient suffering from nodular gastritis. PMID:27609915

  7. Apogeotropic central positional nystagmus as a sole sign of nodular infarction.

    PubMed

    Kim, Hyun-Ah; Yi, Hyon-Ah; Lee, Hyung

    2012-10-01

    Positional vertigo and nystagmus without associated neurological symptoms and signs are characteristic features of benign paroxysmal positional vertigo (BPPV). Although positional nystagmus may occur with caudal cerebellar infarction including the nodulus, positional nystagmus is usually associated with other neurological signs such as spontaneous or gaze-evoked nystagmus, perverted head-shaking nystagmus, cerebellar dysmetria, or severe gait ataxia with falling. We present a patient with nodular infarction who had positional vertigo with nystagmus as a sole manifestation. Video-oculography showed apogeotropic positional horizontal nystagmus during head turning while supine, which was consistent with apogeotropic BPPV involving the horizontal canal. MRI disclosed acute infarct in the nodulus. Nodulus infarction should be considered in a patient with positional nystagmus, especially when the presenting symptoms and signs are consistent with BPPV involving the horizontal canal. PMID:22187336

  8. Reduction of Nodular Growth Pattern of Metastatic Uveal Melanoma after Radioembolization of Hepatic Metastases

    PubMed Central

    Halenda, Kevin M.; Kudchadkar, Ragini R.; Lawson, David H.; Kies, Darren D.; Zhelnin, Kristen E.; Krasinskas, Alyssa M.; Grossniklaus, Hans E.

    2016-01-01

    Aim The aim of this study was to report a case of metastatic uveal melanoma in which radioembolized nodular liver metastases decreased in size while infiltrative sinusoidal metastases progressed, leading to jaundice without obstruction of the biliary ducts. Methods The relevant clinical features, imaging, and histopathologic findings of this case are reviewed. Results A 61-year-old Caucasian male with a history of uveal melanoma of the left eye status post plaque brachytherapy developed numerous liver metastases. After progression on systemic therapies, he underwent palliative radioembolization. Despite some radiographic improvement in the liver metastases, he developed hyperbilirubinemia without biliary tract obstruction or signs of liver failure. A biopsy of radiographically normal liver demonstrated extensive sinusoidal infiltration with melanoma. Conclusions Distinct angiographic and histopathologic growth patterns of metastatic uveal melanoma differ in their amenability to radioembolization. Sinusoidal infiltration may lead to hyperbilirubinemia in the absence of overt obstruction or liver failure. PMID:27239458

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

    PubMed

    Yürekli, Yakup; Cengiz, Arzu; Güney, Engin

    2015-10-01

    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

  10. PPP6R3-USP6 amplification: Novel oncogenic mechanism in malignant nodular fasciitis.

    PubMed

    Guo, Ruifeng; Wang, Xiaoke; Chou, Margaret M; Asmann, Yan; Wenger, Doris E; Al-Ibraheemi, Alyaa; Molavi, Diana W; Aboulafia, Albert; Jin, Long; Fritchie, Karen; Oliveira, Jennifer L; Jenkins, Robert B; Westendorf, Jennifer J; Dong, Jie; Oliveira, Andre M

    2016-08-01

    Nodular fasciitis (NF) is a clonal self-limited neoplastic proliferation characterized by rearrangements of the USP6 locus in most examples. To our knowledge well-documented malignant behavior has never been previously observed in NF. In this report we present an unusual case of NF with classical histologic features that showed a protracted clinical course characterized by multiple recurrences and eventual metastatic behavior over a period of 10 years. Molecular analyses revealed the presence and amplification of the novel PPPR6-USP6 gene fusion, which resulted in USP6 mRNA transcriptional upregulation. These findings further support the oncogenic role of the USP6 protease in mesenchymal neoplasia and expand the biologic potential of NF. © 2016 Wiley Periodicals, Inc. PMID:27113271

  11. Von Meyenburg complexes mimicking metastatic disease at laparotomy for focal nodular hyperplasia

    PubMed Central

    Bieze, Matthanja; Verheij, Joanne; Phoa, Saffire S; van Gulik, Thomas M

    2013-01-01

    A 44-year-old woman presented with symptoms of fatigue and increasing abdominal discomfort. MRI with the hepatobiliary contrast Gd-EOB-DTPA (Primovist) was performed showing a 6 cm lesion in segment 2/3 of the liver typical for focal nodular hyperplasia (FNH). Because of severe complaints attributed to the lesion, the patient was scheduled for resection. At laparotomy multiple small white lesions were found throughout the liver with enlarged locoregional lymph nodes. Macroscopically, the findings could be consistent with widespread metastases and the surgeon felt compelled to determine the nature of these lesions before continuing resection. Final diagnosis revealed multiple bile duct hamartomas and an FNH lesion as was expected. PMID:23814126

  12. Von Meyenburg complexes mimicking metastatic disease at laparotomy for focal nodular hyperplasia.

    PubMed

    Bieze, Matthanja; Verheij, Joanne; Phoa, Saffire S; van Gulik, Thomas M

    2013-01-01

    A 44-year-old woman presented with symptoms of fatigue and increasing abdominal discomfort. MRI with the hepatobiliary contrast Gd-EOB-DTPA (Primovist) was performed showing a 6 cm lesion in segment 2/3 of the liver typical for focal nodular hyperplasia (FNH). Because of severe complaints attributed to the lesion, the patient was scheduled for resection. At laparotomy multiple small white lesions were found throughout the liver with enlarged locoregional lymph nodes. Macroscopically, the findings could be consistent with widespread metastases and the surgeon felt compelled to determine the nature of these lesions before continuing resection. Final diagnosis revealed multiple bile duct hamartomas and an FNH lesion as was expected. PMID:23814126

  13. Sclerosing angiomatoid nodular transformation of the spleen during pregnancy: Diagnostic challenges and clinical management.

    PubMed

    Corrado, Giacomo; Tabanelli, Valentina; Biffi, Roberto; Petralia, Giuseppe; Tinelli, Andrea; Peccatori, Fedro A

    2016-08-01

    We report the first case of sclerosing angiomatoid nodular transformation (SANT) of the spleen diagnosed during pregnancy, discussing differential diagnosis, immunohistochemical profile and treatment. A G2P1 37-year-old woman presented during the 19th week of gestation because of pruritus at lower limbs. To exclude cholestasis, an abdominal ultrasound and whole body magnetic resonance were performed and a single solid lesion with intrinsic vascularization was identified. Therefore, at 22 weeks gestation, after normal fetal assessment, the patient was referred for a splenectomy. No further treatment was suggested and the patient gave birth at 42 weeks gestation with a spontaneous delivery. Distinguishing SANT from other vascular neoplasms of the spleen during pregnancy is a difficult task. Surgical excision should be performed to exclude malignancy and to resolve symptoms, if present. PMID:27080826

  14. Nodular immunocyte-derived (AL) amyloidosis in the trachea of a dog.

    PubMed

    Besancon, M Faulkner; Stacy, Brian A; Kyles, Andrew E; Moore, Peter F; Vernau, William; Smarick, Sean D; Rasor, Liberty A

    2004-04-15

    A 7-year-old castrated male Miniature Schnauzer was examined because of labored breathing and episodes of respiratory distress that progressed to collapse. On cervical radiographs, a focal soft tissue mass in the caudal cervical portion of the trachea was observed, and during tracheoscopy, a 1 x 1 cm, pedunculated, multinodular, pink, intraluminal mass extending from the dorsal tracheal membrane and obstructing approximately 80% of the tracheal lumen was seen. Tracheal resection and anastomosis was performed to remove the mass, and the dog recovered without complications. On histologic examination, the mass consisted of a large accumulation of homogeneous, faintly fibrillar eosinophilic material admixed with a predominantly plasma cell infiltrate; examination of sections stained with thioflavin T and Congo red stain confirmed that the eosinophilic material was amyloid. A diagnosis of nodular, immunocyte-derived (AL) amyloidosis was made. Seventeen months after surgery, the dog had a relapse of respiratory distress because of an extramedullary plasmacytoma involving the trachea. PMID:15112779

  15. Ultrasonic cavitation erosion of nodular cast iron with ferrite-pearlite microstructure.

    PubMed

    Mitelea, Ion; Bordeaşu, Ilare; Pelle, Marius; Crăciunescu, Corneliu

    2015-03-01

    The cavitation erosion of ductile cast iron with ferrite-pearlite microstructure was analyzed based on ultrasonic experiments performed according to ASTM G32-2010 and the resistance was compared to the C45 steel with similar hardness. The microstructural observation of the surface for different exposure times to the ultrasonic cavitation reveals the fact that the process initiates at the nodular graphite-ferrite interface and is controlled by micro-galvanic activities and mechanical factors. The cavitation erosion resistance was evaluated based on the evolution of the mean depth erosion and the mean depth erosion rate as a function of the cavitation time. The cavitation erosion rate of the cast iron is up to 1.32 times higher than the one of the C 45 steel with similar hardness. This is explained by the occurrence of stress concentrators due to the expulsion of the graphite from the metallic matrix. PMID:25465881

  16. 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.

  17. Oesophageal variceal bleeding in Felty's syndrome associated with nodular regenerative hyperplasia.

    PubMed Central

    Blendis, L M; Lovell, D; Barnes, C G; Ritland, S; Cattan, D; Vesin, P

    1978-01-01

    Four patients with Felty's syndrome developed massive upper gastrointestinal bleeding due to oesophageal varices. The underlying hepatic pathology in all 4 was nodular regenerative hyperplasia. This appears to be a difficult histological diagnosis to make, having been initially reported as normal on percutaneous biopsy or as fibrosis or cirrhosis on wedge biopsy. This series brings the total number of cases reported in the English literature of this association to 12, suggesting a definite symptom complex. The portal hypertension seems to be due to a combination of increased splenic blood flow and postsinusoidal resistance. The clinical importance of this syndrome is that the appropriate therapy for bleeding oesophageal varices appears to be shunt procedure such as a splenorenal shunt with splenectomy, which should be well tolerated. Images PMID:306226

  18. Sclerosing angiomatoid nodular transformation of the spleen: A case report and literature review

    PubMed Central

    Wang, Tian-Bao; Hu, Bao-Guang; Liu, Da-Wei; Gao, Zhen-Hua; Shi, Han-Ping; Dong, Wen-Guang

    2016-01-01

    Sclerosing angiomatoid nodular transformation (SANT) is a rare benign splenic vascular lesion. Since it was first defined in 2004, a total of 132 cases of SANT have been reported in ~50 studies in the English literature. However, it remains difficult to form a definitive pre-operative differential diagnosis of SANT compared with other splenic tumors or malignant lesions. The present study reports a pathologically proven case of SANT in a 29-year-old man who initially presented with left upper quadrant and back discomfort. The study also provides a review of the current knowledge on the condition, including the clinical profile, imaging features, cytological features, differential diagnosis and treatment of SANT. The most important distinguishing features of SANT are its typical vascular character and lack of other features that are typical of a granuloma. A splenectomy is required and the diagnosis is based on pathological analysis. PMID:27446372

  19. Husbands and wives living with multiple sclerosis.

    PubMed

    Courts, Nancy Fleming; Newton, Amanda N; McNeal, Linda J

    2005-02-01

    Multiple sclerosis (MS) frequently is diagnosed in young adults. Coping with symptoms of MS is challenging not only for the person with the disease, but also for his or her spouse. The well spouse often assumes the caregiving role. The purpose of this qualitative research was to investigate the experiences of persons whose spouses have MS. Twelve people participated in a 2-hour focus group: 8 men and 4 women. The husbands were, on average, 50 years old, and the wives averaged 55 years old. The length of time since diagnosis ranged from 2 to 11 years for the husbands and from 3 to 13 years for the wives. The focus group discussions were audiotaped and transcribed verbatim. Participants talked freely. Four major themes emerged: caregiver roles, need for information, relationship changes, and barriers. Men attempted to protect their wives' energy, intervening for them. Wives encouraged independence in their husbands. Spouses need information about MS, complementary interventions, and support. They want increased public awareness of invisible symptoms and awareness in the workplace of continuing capabilities of persons with MS. Role reversals were challenging for the women who felt that "MS is the third person in a marriage." Spouses need help to maintain appropriate boundaries. Limitations of the study include the small, economically homogeneous sample and the single encounter with the subjects. A longitudinal intervention study is needed. PMID:15794441

  20. Multiple sclerosis: a primary care perspective.

    PubMed

    Saguil, Aaron; Kane, Shawn; Farnell, Edwin

    2014-11-01

    Multiple sclerosis (MS) is the most common permanently disabling disorder of the central nervous system in young adults. Relapsing remitting MS is the most common type, and typical symptoms include sensory disturbances, Lhermitte sign, motor weakness, optic neuritis, impaired coordination, and fatigue. The course of disease is highly variable. The diagnosis is clinical and involves two neurologic deficits or objective attacks separated in time and space. Magnetic resonance imaging is helpful in confirming the diagnosis and excluding mimics. Symptom exacerbations affect 85% of patients with MS. Corticosteroids are the treatment of choice for patients with acute, significant symptoms. Disease-modifying agents should be initiated early in the treatment of MS to forestall disease and preserve function. Two immunomodulatory agents (interferon beta and glatiramer) and five immunosuppressive agents (fingolimod, teriflunomide, dimethyl fumarate, natalizumab, and mitoxantrone) are approved by the U.S. Food and Drug Administration for the treatment of MS, each with demonstrated effectiveness and unique adverse effect profiles. Symptom management constitutes a large part of care; neurogenic bladder and bowel, sexual dysfunction, pain, spasticity, and fatigue are best treated with a multidisciplinary approach to improve quality of life. PMID:25368924

  1. 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. PMID:27572854

  2. 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. PMID:27572865

  3. A gene expression signature that distinguishes desmoid tumours from nodular fasciitis.

    PubMed

    Bacac, M; Migliavacca, E; Stehle, J-C; McKee, T; Delorenzi, M; Coindre, J-M; Guillou, L; Stamenkovic, I

    2006-03-01

    Nodular fasciitis (NF) is a rapidly growing cellular mass composed of fibroblasts/myofibroblasts, usually localized in subcutaneous tissues, that typically undergoes fibrosis and almost never recurs. Desmoid tumours (DTs) are rare forms of fibroblastic/myofibroblastic growth that arise in deep soft tissues, display a propensity for local infiltration and recurrence, but fail to metastasize. Given that both entities are primarily fibroblastic/myofibroblastic lesions with overlapping histological features, their gene expression profiles were compared to identify differentially expressed genes that may provide not only potential diagnostic markers, but also clues as to the pathogenesis of each disorder. Differentially expressed transcripts (89 clones displaying increased expression in DTs and 246 clones displaying increased expression in NF) included genes encoding several receptor and non-receptor tyrosine kinases (EPHB3, PTPRF, GNAZ, SYK, LYN, EPHA4, BIRC3), transcription factors (TWIST1, PITX2, EYA2, OAS1, MITF, TCF20), and members of the Wnt signalling pathway (AXIN2, WISP1, SFRP). Remarkably, almost one-quarter of the differentially expressed genes encode proteins associated with inflammation and tissue remodelling, including members of the interferon (IFN), tumour necrosis factor (TNF), and transforming growth factor beta (TGF-beta) signalling pathways as well as metalloproteinases (MMP1, 9, 13, 23), urokinase plasminogen activator (PLAU), and cathepsins. The observations provide the first comparative molecular characterization of desmoid tumours and nodular fasciitis and suggest that selected tyrosine kinases, transcription factors, and members of the Wnt, TGF-beta, IFN, and TNF signalling pathways may be implicated in influencing and distinguishing their fate. PMID:16440290

  4. 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.

  5. 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

  6. Hyperplastic goiter in two adult dairy cows.

    PubMed

    Ong, Chee Bing; Herdt, Thomas H; Fitzgerald, Scott D

    2014-11-01

    Iodine excess and resultant hyperplastic goiter are well documented in neonatal ruminants, but little is reported on iodine excess in adult ruminants and associated histological changes of the thyroid gland. Two adult Holstein cows from a Michigan dairy herd that had lost several other animals had nonspecific clinical signs of illness and were submitted for necropsy. Thyroid glands of one of these 2 animals were grossly and markedly enlarged, and histologically, thyroid glands from both animals had regions of cystic nodular hyperplasia and follicular atrophy. Thyroid glands from both animals had markedly elevated iodine concentrations. Investigation into the potential source of excessive iodine on the farm revealed multiple sources of supplemental dietary iodine and probable uneven feed and mineral mixing. Based on the findings of this investigation, adult cattle could be susceptible to excessive doses of iodine. Possibility of previous iodine deficiency before supplementation period, with subsequent development and persistence of thyroid hyperplasia and cystic change, cannot be completely excluded. Current findings suggested that iodine excess in adult cattle can result in nodular hyperplastic goiter. Use of iodized salt in mineral supplements in adult dairy herds is common practice, and accidental excessive iodine supplement may be more common than reported. Recognizing gross and histological thyroid gland changes, consisting of concurrent cystic follicular hyperplasia, atrophy, and fibrosis should raise suspicion of iodine excess and/or prior deficiency in a cattle herd, and ancillary tests such as serum iodine measurements should be part of the diagnostic workup in suspected cases. PMID:25292195

  7. Patient-Reported Outcome Measures in Systemic Sclerosis (Scleroderma).

    PubMed

    Pellar, Russell E; Tingey, Theresa M; Pope, Janet Elizabeth

    2016-05-01

    Scleroderma (systemic sclerosis) is a rare autoimmune connective tissue disease that can damage multiple organs and reduce quality of life. Patient-reported outcome measures capture the patient's perspective. Some measures are specific to systemic sclerosis and others are general. Patient-reported outcomes in systemic sclerosis are important to aid in understanding the impact of systemic sclerosis on patients. PMID:27133491

  8. 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. PMID:26408162

  9. [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. PMID:24906536

  10. Newer therapies for multiple sclerosis.

    PubMed

    Coles, Alasdair

    2015-09-01

    The newer immunotherapies for multiple sclerosis (fingolimod, natalizumab, dimethyl fumarate, teriflunomide, alemtuzumab) offer advantages of efficacy or tolerability over the injectable therapies of the 1990s. But they also have greater risks. As further treatments emerge (daclizumab and ocrelizumab are likely to be licensed in the next two years), the physician needs to be able to place them within a complex landscape of drugs and a specific treatment strategy, which may be an "escalation" or "induction" approach. Whilst on treatment, neurologist and patient need to be vigilant to signs of disease breakthrough or adverse effects. PMID:26538846

  11. Estrogen Treatment in Multiple Sclerosis

    PubMed Central

    Gold, Stefan M; Voskuhl, Rhonda R

    2009-01-01

    Currently available treatments for multiple sclerosis reduce inflammatory lesions on MRI and decrease clinical relapses but have limited effects on disability. Novel treatment options that target both the inflammatory as well as the neurodegenerative component of the disease are therefore needed. A growing body of evidence from basic science and clinical studies supports the therapeutic potential of estrogens in MS. Mechanisms of action include both immunomodulatory and directly neuroprotective pathways. A first pilot trial of oral estriol treatment showed encouraging results. There are now several phase II trials underway to further determine the efficacy of estrogen treatment in MS. PMID:19539954

  12. Systematic imaging review: Multiple Sclerosis

    PubMed Central

    Katdare, Aparna; Ursekar, Meher

    2015-01-01

    Multiple sclerosis (MS) is a chronic, inflammatory disease of the central nervous system characterised by immune-mediated demyelination, and is a leading cause of neurological disability worldwide. It has a wide spectrum of clinical presentations which overlap with other neurological conditions many times. Further, the radiological array of findings in MS can also be confused for multiple other conditions, leading to the need to look for the more typical findings, and interpret these in close conjunction with the clinical picture including temporal evolution. This review aims to revisit the MRI findings in MS, including recent innovations in imaging, and to help distinguish MS from its mimics. PMID:26538845

  13. Newer therapies for multiple sclerosis

    PubMed Central

    Coles, Alasdair

    2015-01-01

    The newer immunotherapies for multiple sclerosis (fingolimod, natalizumab, dimethyl fumarate, teriflunomide, alemtuzumab) offer advantages of efficacy or tolerability over the injectable therapies of the 1990s. But they also have greater risks. As further treatments emerge (daclizumab and ocrelizumab are likely to be licensed in the next two years), the physician needs to be able to place them within a complex landscape of drugs and a specific treatment strategy, which may be an “escalation” or “induction” approach. Whilst on treatment, neurologist and patient need to be vigilant to signs of disease breakthrough or adverse effects. PMID:26538846

  14. Musculoskeletal involvement in systemic sclerosis.

    PubMed

    Lóránd, Veronika; Czirják, László; Minier, Tünde

    2014-10-01

    Musculoskeletal (MSK) involvement is a very frequent manifestation of patients with systemic sclerosis (SSc). There are several reports about clinical trials assessing musculoskeletal involvement in SSc. However, only few controlled studies have been conducted. The prevalence of musculoskeletal symptoms, clinical and radiographic findings has been assessed. The most important articular (arthralgia, synovitis, contractures), tendon (tendon friction rubs, tenosynovitis) and muscular manifestations (myalgia, muscle weakness, myositis) should be carefully evaluated during the assessment of SSc patients, because these are not only common, but substantially influence the quality of life and some of them also have predictive value concerning disease activity and severity. PMID:25179276

  15. Incidence, management, and outcome of high-grade transformation of nodular lymphocyte predominant Hodgkin lymphoma: long-term outcomes from a 30-year experience.

    PubMed

    Eyre, Toby A; Gatter, Kevin; Collins, Graham P; Hall, Georgina W; Watson, Caroline; Hatton, Chris S R

    2015-06-01

    Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare form of Hodgkin lymphoma that typically presents as early stage, indolent disease in young adult males. The relationship between NLPHL and DLBCL is incompletely understood, and there remains a paucity of data with regard the incidence and management of high-grade transformation. We report the largest study to date describing the incidence, management and long-term outcome of 26 cases of high-grade transformation of NLPHL over a 30-year period. We report a transformation incidence of 17.0%. Bone marrow, splenic, and liver infiltration with DLBCL was frequent. Patients with an aa-IPI 2-3 have poorer OS and PFS (P = 0.034 and P = 0.009, respectively). Although the approach to treatment was somewhat variable, typically young, otherwise fit patients received anthracycline-based induction, platinum-based consolidation with stem cell harvesting, followed by autologous SCT with BEAM conditioning. Long-term (5 year) PFS was over 60% with this approach, and comparable to our de novo DLBCL historical age and time period-matched cohort largely treated with CHOP-like chemotherapy alone. The transformation rate of 17.0% highlights the importance of accurate initial diagnosis, long-term follow-up, and re-biopsy at relapse. PMID:25715900

  16. Gastrointestinal complications of systemic sclerosis

    PubMed Central

    Tian, Xin-Ping; Zhang, Xuan

    2013-01-01

    Systemic sclerosis is an autoimmune disease characterized by progressive skin thickening and tightness. Pulmonary interstitial fibrosis and kidney damage are the most important indicators for mortality; however, the gastrointestinal tract is the most commonly damaged system. Virtually all parts of the gastrointestinal (GI) tract can be involved, although the esophagus is the most frequently reported. The mechanisms that cause such extensive damage are generally unclear, but vascular changes, immunological abnormalities, excessive accumulation of collagen in the submucosa, smooth muscle atrophy and neuropathy may participate because these are the most common histological findings in biopsies and autopsies. Most patients with GI tract involvement complain about dyspepsia, nausea, vomiting, abdominal bloating/distension, and fecal incontinence. These symptoms are generally mild during the early stage of the disease and are likely ignored by physicians. As the disease becomes more advanced, however, patient quality of life is markedly influenced, whereby malnutrition and shortened survival are the usual consequences. The diagnosis for systemic sclerosis is based on manometry measurements and an endoscopy examination. Supportive and symptomatic treatment is the main therapeutic strategy; however, an early diagnosis is critical for successful management. PMID:24222949

  17. [Tuberous sclerosis and trigonoseptal tumors].

    PubMed

    Bret, P; Remond, J; Pialat, J; Lapras, C; Fischer, G

    1988-01-01

    A series of 9 patients having a tuberous sclerosis associated to a midline ventricular tumour is reported. Microscopically, the presence of giant cells within the lesion is a major characteristic of the disease. The origin of these subependymal giant cells tumours is questionable since astrocytic, neuronal and ependymal features have been noted by several authors providing various denominations. In the literature and in our series as well, the intra-ventricular tumour presented as the initial manifestation of the disease in most of cases, usually with increased intra-cranial pressure symptoms. On CT, the tumour arises in the area of the foramen of Monro and enhances after contrast injection while the other intracranial anomalies of the disease do not enhance. In 8 patients, a direct transcortical transventricular approach was used. 1 patient was treated by shunt only. The results were evaluated according to the degree of the preoperative neuropsychological impairement: there were 3 deaths, 3 "excellent", 2 "fair" and 1 "poor" results. The problem of the surgical indication raises mainly in patients in whom the diagnosis of the tuberous sclerosis is ascertained prior to the diagnosis of the tumour. Since acute C.S.F. blockage or intra-ventricular bleeding may occur during "conservative" treatment, direct approach seems preferable. PMID:3200364

  18. Mesangial cell hillocks. Nodular foci of exaggerated growth of cells and matrix in prolonged culture.

    PubMed Central

    Sterzel, R. B.; Lovett, D. H.; Foellmer, H. G.; Perfetto, M.; Biemesderfer, D.; Kashgarian, M.

    1986-01-01

    To examine the capability of glomerular mesangial cells (MCs) to produce extracellular matrix, the authors studied MCs in culture by light and electron microscopy as well as immunocytochemistry. MCs were obtained from isolated rat glomeruli and maintained up to 12 weeks in medium containing 20% fetal calf serum. MC outgrowth of primary culture and of up to three subcultures showed characteristic organization consisting of bands of elongated or stellate intertwined cells. After confluency at 10-16 days, MCs continued to grow in irregular multilayers. MCs produced extracellular matrix material within 2-4 days after plating, and large amounts of matrix accumulated with time. By 2-3 weeks, foci of exaggerated MC proliferation, matrix secretion, and necrotic cell debris formed nodular protrusions, which gradually produced large hillocks. Immunocytochemical studies of MC outgrowths were performed on culture plates or on sectioned material with the use of specific rabbit polyclonal antibodies to isolated matrix proteins and FITC-conjugated, affinity-purified second antibodies. Within 3 days of culture, MCs elaborated fibronectin and collagen Types I, III, IV, and V. With time, strands of matrix, notably in the central mass of hillocks, stained extensively for these constituents. Staining for laminin was less pronounced. Smooth muscle cell myosin was regularly found on distinct intracellular fibrils and in the extracellular material of hillocks. Electron microscopy revealed the hillocks to be composed of elongated cells on the surface and stellate cells intermingled with matrix and necrotic cell debris in the core. The results show that proliferating MCs can be maintained in homogeneous culture for a prolonged time period. MCs produce large amounts of the extracellular matrix proteins (Type IV and V collagen, fibronectin, laminin), which are found in normal glomeruli. Cultured MCs also produce interstitial collagen Types I and III. MC hillocks show the nodular accumulation

  19. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

    PubMed

    Kabashi, Edor; Valdmanis, Paul N; Dion, Patrick; Spiegelman, Dan; McConkey, Brendan J; Vande Velde, Christine; Bouchard, Jean-Pierre; Lacomblez, Lucette; Pochigaeva, Ksenia; Salachas, Francois; Pradat, Pierre-Francois; Camu, William; Meininger, Vincent; Dupre, Nicolas; Rouleau, Guy A

    2008-05-01

    Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals--six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)--and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis. PMID:18372902

  20. [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. PMID:27070365

  1. 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. PMID:24647448

  2. 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.

  3. Identification of a Mycobacterium sp. as the causative agent of orange nodular lesions in the Atlantic sea scallop Placopecten magellanicus.

    PubMed

    Grimm, Catherine; Huntsberger, Carl; Markey, Kathryn; Inglis, Susan; Smolowitz, Roxanna

    2016-03-30

    The Atlantic sea scallop Placopecten magellanicus is an economically important species in the offshore fisheries on the east coast of the USA. Recently, animals collected from waters ranging from Massachusetts to Maryland have shown variably sized (up to 1 cm in diameter) orange nodular foci, predominantly in the adductor muscle tissue, but also in other organs. Histological evaluation of the nodular lesions showed rod-shaped bacteria that stain acid-fast positive and Gram-positive. PCR methodology was employed to identify the causative organism of the nodules as a Mycobacterium sp. using analysis of the partial 16S gene and the 16S-23S internal transcribed spacer region. Based upon genotypic findings, the causative bacterium fits well into the genus Mycobacterium. PMID:27025312

  4. 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. PMID:23636902

  5. [A Case of Early Gastric Cancer with Nodular Tumor-like Scalp Metastasis].

    PubMed

    Song, Young Wook; Kim, Woo Sub; Yun, Gee Young; Park, Sun Wook; Kang, Sun Hyung; Moon, Hee Seok; Sung, Jae Kyu; Jeong, Hyun Yong

    2016-07-25

    Many neoplasms, including lung cancer, breast cancer, melanoma, and gastrointestinal tract malignancy, possess potential for skin metastasis. Skin metastases can represent the first presentation of such malignancies and may be observed incidentally during routine exam. Skin metastases from gastric adenocarcinoma are uncommon, with a prevalence rate of 0.04-0.8%. Cutaneous metastases from gastric cancer are generally observed as the initial symptom of advanced gastric cancer. Early detection and treatment can increase patient survival. A 42-year-old woman visited our department with nodule about 1 cm in size on the right frontal scalp noticed incidentally after laparoscopy-assisted distal gastrectomy and adjuvant systemic chemo-therapy for early gastric cancer about 16 months prior. The patient was diagnosed with skin metastasis from gastric adenocarcinoma. Complete excision of the skin lesion and additional chemotherapy were performed. Herein, we report a case of nodular tumor-like scalp metastasis from early gastric cancer with a brief review of the literature. PMID:27443622

  6. Differentiation of hepatocellular adenoma and focal nodular hyperplasia using 18F-fluorocholine PET/CT.

    PubMed

    van den Esschert, Jacomina W; Bieze, Matthanja; Beuers, Ulrich H; van Gulik, Thomas M; Bennink, Roelof J

    2011-03-01

    The aim of this pilot study was to evaluate the use of PET/CT with (18)F-fluorocholine in the differentiation of hepatocellular adenoma (HCA) from focal nodular hyperplasia (FNH). Patients with liver lesions larger than 2 cm suspicious for HCA or FNH were prospectively included. All patients underwent PET/CT with (18)F-fluorocholine and histopathological diagnosis was obtained by either liver biopsy or surgery. The ratios between the maximum standardized uptake value (SUV) of the lesion and the mean SUV of normal liver parenchyma were calculated and a receiver operating characteristic (ROC) curve analysis was performed. Ten patients with FNH and 11 with HCA were included. The mean SUV ratio was 1.68±0.29 (±SD) for FNH and 0.88±0.18 for HCA (p<0.001). An SUV ratio cut-off value between 1.12 and 1.22 differentiated patients with FNH from those with HCA with 100% sensitivity and 100% specificity. This pilot study showed that PET/CT with (18)F-fluorocholine can differentiate HCA from FNH. PMID:20717825

  7. Differentiation of hepatocellular adenoma and focal nodular hyperplasia using 18F-fluorocholine PET/CT

    PubMed Central

    van den Esschert, Jacomina W.; Bieze, Matthanja; Beuers, Ulrich H.; Bennink, Roelof J.

    2010-01-01

    The aim of this pilot study was to evaluate the use of PET/CT with 18F-fluorocholine in the differentiation of hepatocellular adenoma (HCA) from focal nodular hyperplasia (FNH). Patients with liver lesions larger than 2 cm suspicious for HCA or FNH were prospectively included. All patients underwent PET/CT with 18F-fluorocholine and histopathological diagnosis was obtained by either liver biopsy or surgery. The ratios between the maximum standardized uptake value (SUV) of the lesion and the mean SUV of normal liver parenchyma were calculated and a receiver operating characteristic (ROC) curve analysis was performed. Ten patients with FNH and 11 with HCA were included. The mean SUV ratio was 1.68±0.29 (±SD) for FNH and 0.88±0.18 for HCA (p<0.001). An SUV ratio cut-off value between 1.12 and 1.22 differentiated patients with FNH from those with HCA with 100% sensitivity and 100% specificity. This pilot study showed that PET/CT with 18F-fluorocholine can differentiate HCA from FNH. PMID:20717825

  8. Adenoma or atypical hepatic focal nodular hyperplasia: role of preoperative imaging and laparoscopic treatment.

    PubMed

    Di Carlo, Isidoro; Pulvirenti, Elia; Toro, Adriana; Priolo, Gian Domenico

    2010-06-01

    Differentiation of focal nodular hyperplasia (FNH) and other hypervascular liver lesions, such as hepatocellular adenoma (HCA), is important because of the drastically different therapeutic approach. However, FNH can be well distinguished only if it shows a typical aspect; alternatively, in the case of atypical FNH, imaging findings are not specific enough to provide a secure diagnosis and histologic verification of the lesion is required. In addition, HCA cannot be identified conclusively by any current available imaging technique and it can be at best suspected strongly, and this suspicion may lead to liver resection. Herein we report a case of a patient with an unusual FNH nodule presenting at ultrasonographic scanning as an isoechoic mass arising from hepatic segment 4b; the diagnostic indecision between FNH and HCA was not definitively solved even after computed tomography scan and magnetic resonance imaging and the patient was scheduled for a laparoscopic resection. The pathologic examination diagnosed an atypical FNH nodule. The clinical doubt between FNH and HCA remains a problem affecting the clinicians, and more effort should be made in the direction of a better preoperative differentiation of such different conditions. Surgical resection should not be considered as the failure of the preoperative diagnostic attempt, but as the mainstay for a definitive and sure diagnosis. PMID:20551788

  9. Influence of Heat Treatment on Microstructural and Mechanical Properties of Nodular Cast Iron

    NASA Astrophysics Data System (ADS)

    Kruthiventi, S.; Basavakumar, K. G.; Nambala, S.; Subramanyacharyulu, G.

    2014-04-01

    Spheroidal Graphite Iron (SG Iron) is popularly known as ductile iron or nodular cast iron which is a special case of cast iron having carbon content of more than 3 wt% in volume and graphite is in the form of spherical tiny sized particles. Since the last three decades, the demand for SG Iron has been increasing due to its superior mechanical properties such as high strength and toughness, this nature leads to the usage of SG Iron in numerous industrial applications. From the earlier studies, it has been proved that addition of alloying elements to SG Iron leads to change in properties such as increased tensile strength and hardness. Heat-treatment of alloys is one of the valuable methods to achieve better properties. In the present study, the microstructures and mechanical properties of SG Iron were studied after various heat treatments beyond the limits, and tests were done to measure its mechanical properties like tensile strength, hardness, impact strength. Digital microphotographs, scanning electron microphotographs were analysed before and after the heat treatment. Results indicated great change in mechanical properties after the heat-treatment. From the results it can be concluded that the heat treatment of SG Iron results in changed composition of alloys, which also leads to economical growth of SG Iron.

  10. Case report of nodular melanoma within congenital melanocytic nevus- primary closure challenge

    PubMed Central

    Eljuga, Domagoj; Milas, Ivan; Kirac, Iva; Stanec, Mladen; Vrdoljak, Danko Velimir

    2016-01-01

    Introduction Congenital melanocytic nevi (CMN) are present in 1–2% of newborn infants. The size of CMN defines the risk of developing melanoma which is estimated from 5–10%, especially in lesions that are located across the spine. Presentation of case Herein we report a case where nodular melanoma was discovered on the periphery of medium sized CMN in a high risk patient. After complete excision, the defect was reconstructed with random pattern, triple rhomboid flap. Discussion Melanoma that arose within medium sized CMN would leave a complex posterior lower trunk defect. We used a triple Limberg flap which was proven to be straightforward and simple method when large defects are to be covered with vital tissue. We have also showed that this type of reconstruction is suitable for high risk patients that could not withstand any complex procedures. Conclusion In our case, the method we choose to reconstruct the defect proved to be simple, safe and easy, especially when surgery is performed in a high risk patient. PMID:26826932

  11. Magnetic resonance imaging findings of nodular fasciitis in the mental region.

    PubMed

    Katada, Tsutomu; Tsuchimochi, Makoto; Oda, Takaaki; Sasaki, Yoshihiko; Toyama, Michio; Katagiri, Masataka

    2004-09-01

    Nodular fasciitis (NF) is a benign reactive lesion of the soft tissues related to the fascia and characterized by fibroblastic proliferation. The most common site is the upper extremities (46%), followed by the head and neck region (20%). In the orofacial region, the lesion typically develops within the subcutaneous structures overlying the angle and inferior border of the mandible and the zygoma. Magnetic resonance imaging (MRI) findings of NF in the orofacial region are almost unreported in the literature. In the present case report, we describe MRI findings of mental NF in a 19-year-old woman. MRI revealed a well-defined, round soft-tissue mass lying on the mentum. On T1-weighted MRI, the lesion was isointense to skeletal muscle; it was hyperintense to skeletal muscle on T2-weighted MRI, and was enhanced by Gd-diethylenetriamine pentaacetic acid (DTPA). Histologic examination revealed abundant myxoid degeneration dispersed in the lesion. The T2-weighted higher heterogeneous signal intensity was likely due to abundant myxoid degeneration or the cellular component of the lesion. A strong bright signal intensity belt appeared in the periphery of the lesion on Gd-DTPA enhancement. This rim enhancement appeared to represent small arterioles and venules that were visible in the peripheral area on histologic examination. PMID:15490310

  12. Undifferentiated metastatic renal cell carcinoma presenting as a cutaneous nodular lesion.

    PubMed

    Paolino, Giovanni; Lido, Paolo; Bei, Roberto; Polisca, Patrizio

    2015-12-01

    Cutaneous metastases may be the first sign of clinically silent visceral cancer. Approximately 30% of patients with primary renal cell carcinoma present with metastatic disease, and only 8% of them have skin metastases. We present the case of a 59-year-old male patient with a subcutaneous nodular on the upper chest extending to the jugular region. The lesion appeared skin colored and was not painful and 5 cm × 3.5 cm in diameter. The histological examination of the cutaneous biopsy showed an infiltration of undifferentiated epithelial cells positive to cytokeratins AE1/AE3, whereas they were negative to CK-20, CK5/6, cluster of differentiation 10, vimentin, thyroid transcription factor-1, S-100, human melanoma black-45, hepatocyte-specific antigen, carcinoembryonic antigen, and chromogranin A. A total-body computed tomography (CT) showed the presence of a tumoral lesion in the left kidney with multiple metastases in the lung, brain, and bones. According to the cutaneous biopsy and total-body CT, a final diagnosis of an undifferentiated renal carcinoma presenting as a subcutaneous metastasis was made. A chemotherapeutic treatment with gemcitabine and cisplatin resulted in the stabilization of the renal and metastatic lesions with an improvement in the quality of life of the patient. Considering that the prognosis of patients with cutaneous metastases is very poor, it is necessary to obtain an appropriate diagnosis in order to identify patients with treatable disease with the purpose of starting a therapeutic protocol. PMID:26623153

  13. Characterization of Hepatic Adenoma and Focal Nodular Hyperplasia with Gadoxetic Acid

    PubMed Central

    Mohajer, Kiyarash; Frydrychowicz, Alex; Robbins, Jessica B.; Loeffler, Agnes G.; Reed, Thomas D; Reeder, Scott B.

    2013-01-01

    Purpose To characterize imaging features of histologically proven hepatic adenoma (HA) as well as histologically and/or radiologically proven focal nodular hyperplasia (FNH) using delayed hepatobiliary MR imaging with 0.05mmol/kg gadoxetic acid. Materials and Methods Five patients with six HAs with histological correlation were retrospectively identified on liver MRI studies performed with gadoxetic acid, and T1-weighted imaging acquired during the delayed hepatobiliary phase. Additionally, 23 patients with 34 radiologically diagnosed FNH lesions (interpreted without consideration of delayed imaging) were identified, two of which also had histological confirmation. Signal intensity ratios relative to adjacent liver were measured on selected imaging sequences. Results All six hepatic adenomas (100%), which had histological confirmation, demonstrated hypointensity relative to adjacent liver on delayed imaging. Further, all of the FNH (including 34 radiologically proven, 2 of which were also histologically proven) were either hyperintense (23/34, 68%) or isointense (11/34, 32%) relative to the adjacent liver on delayed imaging. None of the FNHs were hypointense relative to liver. Conclusion Distinct imaging characteristics of HA versus FNH on delayed gadoxetic acid-enhanced MRI, with adenomas being hypointense and FNH being iso- or hyperintense on delayed imaging may improve specificity for characterization, and aid in the differentiation of these two lesions. PMID:22674623

  14. Ultrasonographic Differentiation Between Nodular Hyperplasia and Neoplastic Follicular-Patterned Lesions of the Thyroid Gland.

    PubMed

    Song, Yong Sub; Kim, Ji-Hoon; Na, Dong Gyu; Min, Hye Sook; Won, Jae-Kyung; Yun, Tae Jin; Choi, Seung Hong; Sohn, Chul-Ho

    2016-08-01

    We evaluate the gray-scale ultrasonographic characteristics that differentiate between nodular hyperplasia (NH) and neoplastic follicular-patterned lesions (NFPLs) of the thyroid gland. Ultrasonographic features of 750 patients with 832 thyroid nodules (NH, n = 361; or NFPLs, follicular adenoma, n = 123; follicular carcinoma, n = 159; and follicular variant papillary carcinoma, n = 189) were analyzed. Except for echogenicity, over two-thirds of the cases of NH and NFPLs share the ultrasonographic characteristics of solid internal content, a well-defined smooth margin and round-to-ovoid shape. Independent predictors for NH were non-solid internal content (sensitivity 27.1%, specificity 90.2%), isoechogenicity (sensitivity 69.5%, specificity 63.5%) and an ill-defined margin (sensitivity 18.8%, specificity 94.5%). Independent predictors for NFPLs were hypoechogenicity (sensitivity 60.5%, specificity 70.4%), marked hypoechogenicity (sensitivity 2.8%, specificity 99.4%) and taller-than-wide shape (sensitivity 6.6%, specificity 98.1%). Although NH and NFPLs commonly share ultrasonographic characteristics, non-solid internal content and ill-defined margin are specific to NH and marked hypoechogenicity and taller-than-wide shape are specific to NFPLs. PMID:27166018

  15. Highly recurrent mutations of SGK1, DUSP2 and JUNB in nodular lymphocyte predominant Hodgkin lymphoma.

    PubMed

    Hartmann, S; Schuhmacher, B; Rausch, T; Fuller, L; Döring, C; Weniger, M; Lollies, A; Weiser, C; Thurner, L; Rengstl, B; Brunnberg, U; Vornanen, M; Pfreundschuh, M; Benes, V; Küppers, R; Newrzela, S; Hansmann, M-L

    2016-04-01

    Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL)-a subtype of Hodgkin lymphoma (HL)-is characterized by a low content of tumor cells, the lymphocyte predominant (LP) cells. Transformation into diffuse large B-cell lymphoma (DLBCL) occurs in about 10% of patients. We performed whole-genome mutation analysis of the DLBCL components from two composite lymphomas consisting of clonally related NLPHL and DLBCL as a means to identify candidate tumor suppressor genes and oncogenes in NLPHL. The analysis of LP cells for selected mutations of the DLBCL revealed that most mutations are also present in the LP cells, indicating a close relationship between the two components. The analysis of 62 selected genes in NLPHL by targeted ultra-deep sequencing revealed three novel highly recurrently mutated genes (each mutated in ~50% of cases), that is, DUSP2, SGK1 and JUNB. SGK1 was expressed in the LP cells of primary NLPHL cases and in the NLPHL cell line DEV. Administration of an SGK1 inhibitor induced apoptosis in the NLPHL cell line DEV and the DLBCL cell line Farage, suggesting a pathogenetic role of SGK1 in the LP and DLBCL cells. In summary, the present study identifies SGK1, DUSP2 and JUNB as novel key players in the pathogenesis of NLPHL. PMID:26658840

  16. Midkine: A Novel Biomarker to Predict Malignancy in Patients with Nodular Thyroid Disease

    PubMed Central

    Kuzu, Fatih; Arpaci, Dilek; Altas, Ayfer; Haytaoglu, Gürkan; Can, Murat; Barut, Figen; Kokturk, Furuzan; Ilikhan, Sevil Uygun; Bayraktaroglu, Taner

    2016-01-01

    Background. Midkine (MK), a new heparin-binding growth factor, plays important roles in a variety of biological phenomena such as carcinogenesis, inflammation, and angiogenesis. In this study, we aimed to evaluate serum midkine (SMK) and nodular midkine (NMK) levels in patients with thyroid nodules to predict malignancy and whether there was any association between. Methods. A total of 105 patients (74 women, 31 men) with thyroid nodules were enrolled. The levels of SMK and NMK were measured. Any possible correlation between SMK, NMK, and biochemical, cytopathological, or radiological variables was investigated. Results. Both SMK and NMK were found to be higher in hypoechoic nodules with an irregular border and without a halo (p < 0.05). Serum MK levels were significantly higher in nodules with microcalcifications than nodules with macrocalcification or without calcification (p = 0.001). SMK levels were found to be correlated with NMK levels (SMK 0.63 ng/ml versus 1.04 ng/mL and NMK 0.55 ng/mL versus 0.55 ng/mL, r2 = 0.54, p < 0.001). Conclusion. Both SMK and NMK can predict tumorigenesis of highly malignant/suspicious thyroid cytopathology and also well correlated with sonographic features of thyroid nodules. We suggest that MK levels may serve as an alternative biomarker, in conjunction with the cytopathological results in preoperative assessment of thyroid nodules. PMID:27446208

  17. Focal nodular hyperplasia of the liver: an emerging complication of hematopoietic SCT in children.

    PubMed

    Pillon, M; Carucci, N S; Mainardi, C; Carraro, E; Zuliani, M; Chemello, L; Calore, E; Tumino, M; Varotto, S; Toffolutti, T; Destro, R; Gazzola, M V; Alaggio, R; Basso, G; Messina, C

    2015-03-01

    Hepatic focal nodular hyperplasia (FNH) is a nonmalignant condition rarely affecting children previously treated for cancer, especially those who received hematopoietic SCT (HSCT). Some aspects of its pathogenesis still remain unclear and a strong association with specific risk factors has not yet been identified. We report here a single institution's case series of 17 patients who underwent HSCT and were diagnosed with FNH, analyzing retrospectively their clinical features and the radiological appearance of their hepatic lesions. We aimed to compare the diagnostic accuracy of ultrasound (US) and magnetic resonance imaging (MRI) and to explore the role of transient elastography (FibroScan) to evaluate the degree of hepatic fibrosis in FNH patients. Our analysis showed an association of FNH with age at transplant ⩽12 years (hazard ratio (HR) 9.10); chronic GVHD (HR 2.99); hormone-replacement therapy (HR 4.02) and abdominal radiotherapy (HR 4.37). MRI proved to be a more accurate diagnostic tool compared with US. Nine out of 12 patients who underwent FibroScan showed hepatic fibrosis. Our study points out that FNH is an emerging complication of HSCT, which requires a lifelong surveillance to follow its course in cancer patients. PMID:25581411

  18. [Current status of diagnostic imaging of focal nodular hyperplasia of the liver].

    PubMed

    Uggowitzer, M M; Kugler, C; Ruppert-Kohlmayr, A; Groell, R; Raith, J; Schreyer, H

    2000-09-01

    Ranging behind hemangiomas, focal nodular hyperplasias (FNH) are the second most common benign solid liver lesions. Women between the age of 20 and 50 years are predominantly affected. In rare cases FNH may occur in children. Etiologically, an arteriovenous vascular malformation of the liver is discussed, which causes pseudotumorous growth of the surrounding liver parenchyma. Morphological features such as the presence of a radial vascular architecture and feeding arteries within a central scar are characteristic for the presence of FNH. Imaging techniques which enable the depiction of the arterial blood supply with a characteristic centrifugal filling pattern, the contrast enhancement in the early arterial phase, the absence of calcifications and of a tumour capsule and the typical enhancement of the central scar, are of particular importance. Knowledge of these features is important in order to differentiate FNH from other hypervascular focal liver lesions with tendency of scar formation, such as hepatic adenomas, giant hemangiomas, hepatocellular and fibrolamellar carcinomas, and metastases. Diagnosis and differential diagnosis of FNH will be enabled by a combined modality approach consisting of (Doppler) sonography and triphasic CT. To confirm the diagnosis of FNH, dynamic MRI is advisable. Because of the invasiveness of angiography as well as the limited sensitivity and spatial resolution of the various scintigraphic methods, these modalities no longer play a role in the diagnostic work-up of FNH. Lesions lacking typical features diagnostic for FNH remain subjects for biopsy and histological examination. PMID:11079084

  19. Nodular regenerative hyperplasia: Evolving concepts on underdiagnosed cause of portal hypertension

    PubMed Central

    Hartleb, Marek; Gutkowski, Krzysztof; Milkiewicz, Piotr

    2011-01-01

    Nodular regenerative hyperplasia (NRH) is a rare liver condition characterized by a widespread benign transformation of the hepatic parenchyma into small regenerative nodules. NRH may lead to the development of non-cirrhotic portal hypertension. There are no published systematic population studies on NRH and our current knowledge is limited to case reports and case series. NRH may develop via autoimmune, hematological, infectious, neoplastic, or drug-related causes. The disease is usually asymptomatic, slowly or non-progressive unless complications of portal hypertension develop. Accurate diagnosis is made by histopathology, which demonstrates diffuse micronodular transformation without fibrous septa. Lack of perinuclear collagen tissue distinguishes NRH from typical regenerative nodules in the cirrhotic liver. While the initial treatment is to address the underlying disease, ultimately the therapy is directed to the management of portal hypertension. The prognosis of NRH depends on both the severity of the underlying illness and the prevention of secondary complications of portal hypertension. In this review we detail the epidemiology, pathogenesis, diagnosis, management, and prognosis of NRH. PMID:21472097

  20. Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected.

    PubMed

    da Silva, Renata Marques Gonçalves; Pinto, Emília; Goldman, Suzan M; Andreoni, Cássio; Vieira, Teresa C; Abucham, Julio

    2011-03-01

    Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare form of bilateral adrenocortical hyperplasia that is inherited in an autosomal dominant manner and leads to ACTH-independent Cushing's syndrome (CS). PPNAD may be isolated or associated with Carney Complex (CNC). For the diagnosis of PPNAD and CNC, in addition to the hormonal and imaging tests, searching for PRKAR1A mutations may be recommended. The aims of the present study are to discuss the clinical and molecular findings of two Brazilian patients with ACTH-independent CS due to PPNAD and to show the diagnostic challenge CS represents in childhood. Description of two patients with CS and the many sequential steps for the diagnosis of PPNAD is provided. Sequencing analysis of all coding exons of PRKAR1A in the blood, frozen adrenal nodules (patients 1 and 2) and testicular tumor (patient 1) is performed. After several clinical and laboratory drawbacks that misled the diagnostic investigation in both patients, the diagnosis of PPNAD was finally established and confirmed through pathology and molecular studies. In patient 1, sequencing of PRKAR1A gene revealed a novel heterozygous 10-bp deletion in exon 3, present in his blood, adrenal gland and testicular tumor. The etiologic diagnosis of endogenous CS in children is a challenge that requires expertise and a multidisciplinary collaboration for its prompt and correct management. Although rare, PPNAD should always be considered among the possible etiologies of CS, due to the high prevalence of this disease in this age group. PMID:20924687

  1. 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

  2. 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

  3. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

    PubMed

    Lange, L; Pagnamenta, A T; Lise, S; Clasper, S; Stewart, H; Akha, E S; Quaghebeur, G; Knight, S J L; Keays, D A; Taylor, J C; Kini, U

    2016-09-01

    Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes have been identified, these do not explain all cases. Here we describe a patient with a complex Kabuki-like syndrome that included nodular heterotopia, in whom testing for several single-gene disorders had proved negative. Exome sequencing uncovered a de novo c.931_932insTT variant in HNRNPK (heterogeneous nuclear ribonucleoprotein K). Although this variant was identified in March 2012, its clinical relevance could only be confirmed following the August 2015 publication of two cases with HNRNPK mutations and an overlapping phenotype that included intellectual disability, distinctive facial dysmorphism and skeletal/connective tissue abnormalities. Whilst we had attempted (unsuccessfully) to identify additional cases through existing collaborators, the two published cases were 'matched' using GeneMatcher, a web-based tool for connecting researchers and clinicians working on identical genes. Our report therefore exemplifies the importance of such online tools in clinical genetics research and the benefits of periodically reviewing cases with variants of unproven significance. Our study also suggests that loss of function variants in HNRNPK should be considered as a molecular basis for patients with Kabuki-like syndrome. PMID:26954065

  4. Cellular localization of CIP2A determines its prognostic impact in superficial spreading and nodular melanoma.

    PubMed

    Flørenes, Vivi Ann; Emilsen, Elisabeth; Dong, Hiep Phuc; Førsund, Mette; Holm, Ruth; Slipicevic, Ana

    2015-06-01

    Cancerous inhibitor of protein phosphatase 2A (CIP2A) is an important oncogene contributing to cancer progression partially by regulating cMYC and AKT. We examined CIP2A expression in cutaneous melanomas, its association with clinicopathological parameters and mapped molecular mechanisms regulated by CIP2A in vitro. CIP2A expression was analyzed by immunohistochemistry in 17 nevi, 132 primary melanomas and 49 metastases. Effects of siRNA-mediated down-regulation on proliferation, apoptosis and signaling pathways were assessed in melanoma cell lines. In superficial spreading melanomas (SSM), high nuclear CIP2A expression was associated with poor overall survival (OS) (P = 0.0018). Surprisingly, high cytoplasmic expression was related to improved relapse-free (P = 0.031) and OS (P = 0.014) in nodular melanomas (NM). In vitro experiments revealed that CIP2A can regulate proliferation and/or apoptosis partially through the PI3K/AKT pathway but also independently. In summary, CIP2A could represent a potential therapeutic target in SSM. However, in NM cytoplasmic CIP2A is associated with improved prognosis indicating that CIP2A has distinct, complex functions dependent on the molecular context and histological subtype. As seen in other cancer types, CIP2A can influence cMYC and AKT, but our data also suggest that in melanoma it has additional targets which need to be identified. PMID:25663244

  5. 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

  6. 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.

  7. Genetics Home Reference: amyotrophic lateral sclerosis

    MedlinePlus

    ... amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum Mol Genet. 2014 Jul 1;23(13): ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  8. Multiple sclerosis and oral health: an update.

    PubMed

    Elemek, Eser; Almas, Khalid

    2013-04-01

    Multiple sclerosis is a chronic, neurodegenerative disease seen in 69.1 per 100,000 person-years in the world. As multiple sclerosis and periodontal disease both have an inflammatory origin, dental professionals should be aware of the link between these two diseases. In patients unable to carry out effective oral hygiene, dental treatment should be done by dental hygienists and/or dentists to prevent dental caries and periodontal disease. It is hoped that by identifying multiple sclerosis patients in dental clinics, the required support and treatment could be provided to these patients to improve their quality of life and that dental professionals would feel comfortable treating patients with multiple sclerosis. PMID:23767394

  9. 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

  10. [Mitoxantrone role in treatment of primary progressive multiple sclerosis].

    PubMed

    Pastuszak, Żanna; Stępień, Adam; Tomczykiewicz, Kazimierz; Piusińska-Macoch, Renata; Durka-Kęsy, Marta

    2016-01-01

    Multiple sclerosis is a chronic, autoimmunological disease of central nervous system in which axonal damage in brain and spinal cord is observed. It is second most common cause of disability in young adults in West Europe and North America after injuries. There is 2.5 million people suffered from multiple sclerosis worldwide. The worse prognosis is connected with primary progressive MS in which recovery after first symptoms of central nervous system damage isn't observed. That subtype of disease is seen in case of 10-20% people with MS. MTX is a synthetic antracycline with antineoplastic, immunomodulatory and anti-inflammatory effects. Drug was allowed to treatment of leukemia. It is also used in treatment of breast, prostate, ovarian, stomach and liver cancer. Additionally MTX is used in treatment of secondary progressive SM and relapsing - remitting subtype of disease with no respond to treatment with interferon beta and glatiramer acetate. MTX inhibits topoisomerase II activity, matches to DNA molecule and damage her structure. Drug inhibits limphocyte T, B and macrophages activity and antibodies synthesis. The most dangerous side effects of MTX treatment are cardiotoxicity and induction of leukemia. There is lack of studies describing MTX effectiveness and safety in treatment of primary progressive SM. PMID:26891441

  11. Autonomic Dysregulation in Multiple Sclerosis.

    PubMed

    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

  12. Gastrointestinal involvement in systemic sclerosis.

    PubMed

    Savarino, Edoardo; Furnari, Manuele; de Bortoli, Nicola; Martinucci, Irene; Bodini, Giorgia; Ghio, Massimo; Savarino, Vincenzo

    2014-10-01

    Systemic sclerosis is an autoimmune chronic disease characterised by microvascular, muscular and immunologic abnormalities that lead to progressive and systemic deposition of connective tissue in the skin and internal organs. The gastrointestinal tract is often overlooked by physicians but it is the most affected organ after the skin, from the mouth to the anus. Indeed, 80% of SSc patients may present with gastrointestinal involvement. Gastrointestinal manifestations range from bloating and heartburn to dysphagia and anorectal dysfunction to severe weight loss and malabsorption. However, the gastrointestinal involvement is rarely the direct cause of death, but has great impact on quality of life and leads to several comorbidities that subsequently affect patients' survival. Treatments, including nutritional support and prokinetics provide limited benefits and do not arrest the progressive course of the disease, but earlier detection of gastrointestinal involvement may reduce the risk of complications such as malnutrition. PMID:25179275

  13. Sleep Disorders in Multiple Sclerosis.

    PubMed

    Braley, Tiffany J; Boudreau, Eilis Ann

    2016-05-01

    Recent studies suggest that individuals with multiple sclerosis (MS) are at increased risk for sleep disturbances and that sleep disturbances contribute to fatigue and other chronic symptoms in MS. Although fatigue occurs commonly in people with MS, this symptom is often attributed to MS-specific pathology. Consequently, sleep disorders are often unrecognized and untreated in this population. Timely diagnosis and treatment of sleep problems in MS offer a new opportunity to ameliorate some of the daytime fatigue experienced by patients with MS. To increase this opportunity, the practitioner should be comfortable performing basic screening for common sleep complaints among patients with MS. The objectives of this review are to summarize the latest relevant data on sleep disorders in MS and offer a helpful approach to the identification and workup of the most common sleep problems in this population. Unexplored research avenues and opportunities to address important questions at the interface of sleep and MS are also discussed. PMID:27068547

  14. Personality aspects in multiple sclerosis.

    PubMed

    Diana, R; Grosz, A; Mancini, E

    1985-12-01

    To test the claim that peculiar personality bias is detectable in multiple sclerosis (MS) we used the Szondi test to investigate the psychodynamic aspects of 110 MS patients in comparison with 200 healthy subjects. MS patients appeared to have a greater need for love in a passive form than normal people, rigid defense mechanisms, difficulty in resolving their inner conflicts either by sublimation or by internalization of satisfactory new emotional experiences, feelings of autoaggressiveness, and many symptoms of depression. Some of these aspects correlate with the severity of the disease, others seem to date back to early childhood as peculiar personality patterns. An investigation of childhood events in 110 controls confirmed that MS patients had had many more unhappy experiences in childhood than might commonly be expected. Further, the oft-reported psychiatric troubles preceding MS clinical onset suggest that at least in some MS patients there are specific gaps in personality structure dating back to early phases of their development. PMID:4086262

  15. Multiple sclerosis genetics is dead.

    PubMed

    Hawkes, Christopher H

    2013-07-01

    This review addresses several areas of contention related to the genetic theory for multiple sclerosis (MS). It is argued (a) that the concept of MS as a 'complex disease' has little value, (b) just because a disorder is found in multiple families, it is not necessarily genetically based, (c) although twin studies are claimed to show that MS is '30% genetically based' this concept derives from widely varying data, (d) although genome-wide association studies (GWAS) suggest the presence of several MS related genes this has yet to be proven, (e) monozygotic twins discordant for MS should have a different genetic sequence if the disorder has a genetic basis but data so far suggest this may not be correct and (f) epigenetics or epistasis are contentious topics and may not provide the answer. It is concluded that the role of genetics in MS etiology may be overstated and that attention should now be devoted to environmental causes. PMID:25877721

  16. Oral agents in multiple sclerosis.

    PubMed

    Lorefice, L; Fenu, G; Frau, J; Coghe, G C; Marrosu, M G; Cocco, E

    2015-01-01

    Multiple sclerosis (MS) is a complex autoimmune disease of the central nervous system. Disease-modifying drugs licensed for MS treatment have been developed to reduce relapse rates and halt disease progression. The majority of current MS drugs involve regular, parenteral administration, affecting long-term adherence and thus reducing treatment efficacy. Over the last two decades great progress has been made towards developing new MS therapies with different modes of action and biologic effects. In particular, oral drugs have generated much interest because of their convenience and positive impact on medication adherence. Fingolimod was the first launched oral treatment for relapsing-remitting MS; recently, Teriflunomide and Dimethyl fumarate have also been approved as oral disease-modifying agents. In this review, we summarize and discuss the history, pharmacodynamics, efficacy, and safety of oral agents that have been approved or are under development for the selective treatment of MS. PMID:25924620

  17. [Current immunotherapy of multiple sclerosis].

    PubMed

    Paul, F; Ruprecht, K

    2015-08-01

    Following the introduction of interferon beta 1b as the first immunomodulatory therapy for multiple sclerosis (MS) in 1993, there are currently nine substances or substance classes approved for the treatment of MS (i.e. alemtuzumab, azathioprine, dimethyl fumarate, fingolimod, glatiramer acetate, interferon beta, mitoxantrone, natalizumab and teriflunomide). Major developments during the last 5 years include the approval of orally administered medications (i.e. fingolimod, teriflunomide and dimethyl fumarate), a monoclonal antibody (alemtuzumab), as well as glatiramer acetate with an administration frequency three times a week and a pegylated formulation of interferon beta 1a. The broadened therapeutic options enable a more differentiated and individualized therapy of MS; however, evidence-based data for therapeutic decision-making relevant in clinical practice are not always available. Rare but potentially severe and even life-threatening side effects of immunotherapies for MS require continuous pharmacovigilance and adherence to risk management plans. PMID:26253589

  18. [Vitamin D in Multiple Sclerosis].

    PubMed

    Niino, Masaaki; Miyazaki, Yusei

    2015-11-01

    The geographic epidemiology of multiple sclerosis (MS) suggests that low vitamin D levels are a modifiable risk factor. Previous studies have shown that patients with MS have significantly lower vitamin D levels compared with healthy controls. Vitamin D is a potent immunomodulator important for immune function and development, and it offers potential benefits by reducing inflammation. Vitamin D has beneficial effects in experimental autoimmune encephalomyelitis, an animal model of MS. In summation, these studies suggest that vitamin D may have therapeutic potential for MS. This has not been established although preliminary clinical trials for vitamin D in MS look promising. Genetic studies suggest that genes associated with vitamin D are critical susceptible genes for MS. In this review, we discuss current research investigating the association between vitamin D and MS and the issues that need to be resolved. PMID:26560958

  19. 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. PMID:25326228

  20. Immunological treatment of multiple sclerosis.

    PubMed

    Diebold, Martin; Derfuss, Tobias

    2016-04-01

    Treatment of multiple sclerosis (MS) has been a challenge since its first description by Charcot. The advent of immunomodulatory drugs in the mid 1990s brought the first big change in the treatment of MS patients. During the last 10 years there has been an ongoing tremendous evolution of novel treatment options for relapsing-remitting MS. These options include monoclonal antibodies, which inhibit migration of lymphocytes (natalizumab), deplete lymphocytes (alemtuzumab), or block the cytokine receptor interleukin (IL)-2 (daclizumab), teriflunomide that inhibits proliferation of activated lymphocytes, fingolimod that modulates the sphingosine-receptor system, and dimethylfumarate that combines features of immunomodulatory and immunosuppressive drugs. The topic of this review is to discuss currently available treatments and provide an outlook into the near future. PMID:27312167

  1. Erectile Dysfunction in Systemic Sclerosis.

    PubMed

    Jaeger, Veronika K; Walker, Ulrich A

    2016-08-01

    Erectile dysfunction (ED) is a major issue in systemic sclerosis (SSc) as it is observed in around 80 to 90 % of men with this connective tissue disease. ED greatly impacts the quality of life and should be actively addressed as a common complication. Whereas ED in the general population is usually associated with risk factors for atherosclerosis as well as cardiovascular disease, the main aetiology of ED in SSc is microangiopathic. In SSc, the blood flow is reduced in the small penile arteries due to corporal fibrosis and myointimal proliferation. There are no data on the prevention of ED in SSc. On-demand phosphodiesterase-5 inhibitors have little effect in improving erectile function, but daily or alternate day regimens of long-acting phosphodiesterase-5 inhibitors provide a measurable, although often limited, benefit. When intracavernous prostaglandin E1 injections are also ineffective, the implantation of a penile prosthesis should be considered as an option. PMID:27402106

  2. 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

  3. Erosive Arthropathy in systemic sclerosis

    PubMed Central

    Allali, Fadoua; Tahiri, Latifa; Senjari, Adil; Abouqal, Redouane; Hajjaj-Hassouni, Najia

    2007-01-01

    Background To determine radiological features of arthropathy in systemic sclerosis patients with polyarthritis. Results Forty one women and 5 men were included in this study. The mean age was 41 + 14,2 years, the mean duration of disease was 10,5+ 6,5 years. Thirty seven patients (80%) had radiological abnormalities including joint space narrowing (37%) and erosions (43%). At presentation, the prevalence of radiological foot abnormalities was lower than that of hands (26% vs 79%, p < 0,001). There was no significant difference between patients with (n = 24) and without erosive arthropathy (Joint space narrowing and/or erosion) (n = 22) in terms of cutaneous subtype, organ involvement, calcinosis presence of rheumatoid factor, ANA, Anti-topoisomerase antibodies. Conclusion This study showed an high frequency of erosive arthropathy in our morroccan SSc patients with clinical synovitis. PMID:17888166

  4. Neuropsychiatric manifestations of multiple sclerosis.

    PubMed

    Diaz-Olavarrieta, C; Cummings, J L; Velazquez, J; Garcia de la Cadena, C

    1999-01-01

    The range of neuropsychiatric symptoms in multiple sclerosis (MS) has not been prospectively assessed. The authors, working at a tertiary medical center in Mexico City, used the Neuropsychiatric Inventory (NPI) to evaluate neuropsychiatric symptoms prospectively in 44 MS patients who were stable between relapses and 25 control subjects of similar age, education, and cognitive function. Neuropsychiatric symptoms were present in 95% of patients and 16% of control subjects. Changes present were depressive symptoms (79%), agitation (40%), anxiety (37%), irritability (35%), apathy (20%), euphoria (13%), disinhibition (13%), hallucinations (10%), aberrant motor behavior (9%), and delusions (7%). The only relationships with MRI were between euphoria and hallucinations and moderately severe MRI abnormalities. The authors conclude that diverse types of neuropsychiatric symptoms are common in MS; symptoms are present between exacerbations; and there are variable correlations with MRI abnormalities. PMID:9990556

  5. Cognitive dysfunction in multiple sclerosis.

    PubMed

    Guimarães, Joana; Sá, Maria José

    2012-01-01

    In Multiple Sclerosis (MS) prevalence studies of community and clinical samples, indicate that 45-60% of patients are cognitively impaired. These cognitive dysfunctions have been traditionally described as heterogeneous, but more recent studies suggest that there is a specific pattern of MS-related cognitive dysfunctions. With the advent of disease-modifying medications for MS and emphasis on early intervention and treatment, detection of cognitive impairment at its earliest stage becomes particularly important. In this review the authors address: the cognitive domains most commonly impaired in MS (memory, attention, executive functions, speed of information processing, and visual-spatial abilities); the pathophysiological mechanism implied in MS cognitive dysfunction and correlated brain MRI features; the importance of neuropsychological assessment of MS patients in different stages of the disease and the influence of its course on cognitive performance; the most used tests and batteries for neuropsychological assessment; therapeutic strategies to improve cognitive abilities. PMID:22654782

  6. [Cognitive Impairment in Multiple Sclerosis].

    PubMed

    Niino, Masaaki; Miyazaki, Yusei

    2016-04-01

    While cognitive impairment is a major symptom of multiple sclerosis (MS), it is commonly overlooked. This may be explained by the fact that it is difficult to evaluate cognitive function in patients with MS using screening batteries for the detection of dementia such as the mini-mental state examination. Further more, cognitive impairment in MS typically involves domain-specific deficits such as imparement of sustained attention and information processing speed rather than global cognitive decline. Cognitive impairment may influence the daily living and social lines of affected patients. This review discusses the characteristics of cognitive impairment, appropreate tests to evaluate its symptoms, and the current status of clinical trials for the treatment of MS. PMID:27056855

  7. Care Partners and Multiple Sclerosis

    PubMed Central

    Quig, Mary Elizabeth; Tyry, Tuula; Marrie, Ruth Ann; Cutter, Gary; Shearin, Edward; Johnson, Kamau; Simsarian, James

    2015-01-01

    Background: Caring for someone with multiple sclerosis (MS) can be a stressful experience that requires clinical attention. We investigated the impact of caregiver stress on the emotional well-being and physical health of the MS care partner using the North American Research Committee on Multiple Sclerosis (NARCOMS) Registry. Methods: Care partners of NARCOMS participants were invited to complete an online questionnaire that captured demographic characteristics, health status, caregiver burden as measured by the Zarit Caregiver Burden Interview, and impact of caregiving on employment. Results: Of 1446 care partners who agreed to participate, 1333 had complete data. Most were men (n = 825, 61.9%), with a mean (SD) age of 51.1 (11.2) years. The mean (SD) Zarit total score was 24.6 (15.1), placing the overall group in the mild caregiver burden range. Compared with male care partners, female care partners reported higher levels of burden and stress and more medication use for stress/anxiety and mood disorders. Male care partners were more likely to report physical concerns. Care partners of people with primary progressive MS reported greater perceived burden than did partners of people with secondary progressive MS and relapsing-remitting MS. More than 40% of care partners (559 of 1288) had missed work during the past year owing to caregiving responsibilities. Conclusions: Care partners of people with MS have substantial physical and psychological health concerns and experience an adverse impact on employment. Future research should evaluate how to mitigate the adverse effects of caregiving and evaluate positive aspects of the role. PMID:26664330

  8. Paediatric Multiple Sclerosis: Update on Diagnostic Criteria, Imaging, Histopathology and Treatment Choices.

    PubMed

    Chou, I-Jun; Wang, Huei-Shyong; Whitehouse, William P; Constantinescu, Cris S

    2016-07-01

    Paediatric multiple sclerosis (MS) represents less than 5 % of the MS population, but patients with paediatric-onset disease reach permanent disability at a younger age than adult-onset patients. Accurate diagnosis at presentation and optimal long-term treatment are vital to mitigate ongoing neuroinflammation and irreversible neurodegeneration. However, it may be difficult to early differentiate paediatric MS from acute disseminated encephalomyelitis (ADEM) and neuromyelitis optica spectrum disorders (NMOSD), as they often have atypical presentation that differs from that of adult-onset MS. The purpose of this review is to summarize the updated views on diagnostic criteria, imaging, histopathology and treatment choices. PMID:27271748

  9. 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. PMID:25336899

  10. Multiple Sclerosis: Overview of Disease-Modifying Agents

    PubMed Central

    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. PMID:25336899

  11. Aggressive multiple sclerosis: proposed definition and treatment algorithm.

    PubMed

    Rush, Carolina A; MacLean, Heather J; Freedman, Mark S

    2015-07-01

    Multiple sclerosis (MS) is a CNS disorder characterized by inflammation, demyelination and neurodegeneration, and is the most common cause of acquired nontraumatic neurological disability in young adults. The course of the disease varies between individuals: some patients accumulate minimal disability over their lives, whereas others experience a rapidly disabling disease course. This latter subset of patients, whose MS is marked by the rampant progression of disability over a short time period, is often referred to as having 'aggressive' MS. Treatment of patients with aggressive MS is challenging, and optimal strategies have yet to be defined. It is important to identify patients who are at risk of aggressive MS as early as possible and implement an effective treatment strategy. Early intervention might protect patients from irreversible damage and disability, and prevent the development of a secondary progressive course, which thus far lacks effective therapy. PMID:26032396

  12. 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

  13. 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

  14. 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

  15. Clonality and allelotype analyses of focal nodular hyperplasia compared with hepatocellular adenoma and carcinoma

    PubMed Central

    Cai, Yi-Ran; Gong, Li; Teng, Xiao-Ying; Zhang, Hong-Tu; Wang, Cheng-Feng; Wei, Guo-Lian; Guo, Lei; Ding, Fang; Liu, Zhi-Hua; Pan, Qin-Jing; Su, Qin

    2009-01-01

    AIM: To identify clonality and genetic alterations in focal nodular hyperplasia (FNH) and the nodules derived from it. METHODS: Twelve FNH lesions were examined. Twelve hepatocellular adenomas (HCAs) and 22 hepatocellular carcinomas (HCCs) were used as references. Nodules of different types were identified and isolated from FNH by microdissection. An X-chromosome inactivation assay was employed to describe their clonality status. Loss of heterozygosity (LOH) was detected, using 57 markers, for genetic alterations. RESULTS: Nodules of altered hepatocytes (NAH), the putative precursors of HCA and HCC, were found in all the FNH lesions. Polyclonality was revealed in 10 FNH lesions from female patients, and LOH was not detected in any of the six FNH lesions examined, the results apparently showing their polyclonal nature. In contrast, monoclonality was demonstrated in all the eight HCAs and in four of the HCCs from females, and allelic imbalances were found in the HCAs (9/9) and HCCs (15/18), with chromosomal arms 11p, 13q and 17p affected in the former, and 6q, 8p, 11p, 16q and 17p affected in the latter lesions in high frequencies (≥ 30%). Monoclonality was revealed in 21 (40%) of the 52 microdissected NAH, but was not found in any of the five ordinary nodules. LOH was found in all of the 13 NAH tested, being highly frequent at six loci on 8p, 11p, 13q and 17p. CONCLUSION: FNH, as a whole, is polyclonal, but some of the NAH lesions derived from it are already neoplastic and harbor similar allelic imbalances as HCAs. PMID:19787833

  16. A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

    PubMed

    Carabalona, Aurelie; Beguin, Shirley; Pallesi-Pocachard, Emilie; Buhler, Emmanuelle; Pellegrino, Christophe; Arnaud, Karen; Hubert, Philippe; Oualha, Mehdi; Siffroi, Jean Pierre; Khantane, Sabrina; Coupry, Isabelle; Goizet, Cyril; Gelot, Antoinette Bernabe; Represa, Alfonso; Cardoso, Carlos

    2012-03-01

    Periventricular nodular heterotopia (PH) is a human brain malformation caused by defective neuronal migration that results in ectopic neuronal nodules lining the lateral ventricles beneath a normal appearing cortex. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. Mutations in the Filamin-A (or FLNA) gene are the main cause of PH, but the underlying pathological mechanism remains unknown. Although two FlnA knockout mouse strains have been generated, none of them showed the presence of ectopic nodules. To recapitulate the loss of FlnA function in the developing rat brain, we used an in utero RNA interference-mediated knockdown approach and successfully reproduced a PH phenotype in rats comparable with that observed in human patients. In FlnA-knockdown rats, we report that PH results from a disruption of the polarized radial glial scaffold in the ventricular zone altering progression of neural progenitors through the cell cycle and impairing migration of neurons into the cortical plate. Similar alterations of radial glia are observed in human PH brains of a 35-week fetus and a 3-month-old child, harboring distinct FLNA mutations not previously reported. Finally, juvenile FlnA-knockdown rats are highly susceptible to seizures, confirming the reliability of this novel animal model of PH. Our findings suggest that the disorganization of radial glia is the leading cause of PH pathogenesis associated with FLNA mutations. Rattus norvegicus FlnA mRNA (GenBank accession number FJ416060). PMID:22076441

  17. Outcomes of liver resection in hepatocellular adenoma and focal nodular hyperplasia

    PubMed Central

    Bieze, Matthanja; Busch, Olivier R C; Tanis, Pieter J; Verheij, Joanne; Phoa, Saffire S K S; Gouma, Dirk J; van Gulik, Thomas M

    2014-01-01

    Objectives: The clinical management of hepatocellular adenoma (HCA) and focal nodular hyperplasia (FNH) is still subject to controversy, especially with respect to patient selection for surgery. The aim of this prospective cohort study was to assess the outcomes of surgical intervention. Methods: Between January 2008 and September 2012, patients diagnosed with FNH or HCA based on magnetic resonance imaging or computed tomography were enrolled in this prospective study. Resection was undertaken in patients with HCA of >5 cm or symptomatic lesions. Lesion characteristics, extent of liver resection (minor: fewer than three segments; major: three or more segments), morbidity (by Dindo–Clavien class), mortality, postoperative length of stay and symptoms [McGill Pain Questionnaire, including a visual analogue scale (VAS)] were evaluated. Results: A total of 110 patients (106 female; median age: 39 years) were included; 51 patients had HCA and 59 had FNH. Of the 110 patients, 49 underwent resection (33 HCA patients; 16 FNH patients). Laparoscopic minor resection was performed in five HCA and five FNH patients; open minor resection was performed in 19 HCA and seven FNH patients, and open major resection was performed in nine HCA and four FNH patients. Severe postoperative complications were observed in four patients (Grade III, n = 3; Grade IV, n = 1). Median baseline scores on the VAS were 6 in FNH patients and 7 in HCA patients; the median VAS score after resection was 0 (P = 0.008). Conclusions: If patients with HCA and FNH require surgery, limited resection can be carried out with low morbidity and without mortality. Patients with preoperative symptoms show a high rate of postoperative symptom relief. PMID:23509949

  18. Focal nodular hyperplasia: characterisation at gadoxetic acid-enhanced MRI and diffusion-weighted MRI

    PubMed Central

    An, H S; Kim, Y J; Jung, S I; Jeon, H J

    2013-01-01

    Purpose: The aim of this study was to assess the enhancement patterns of hepatic focal nodular hyperplasia (FNH) on gadoxetic acid-enhanced MRI and diffusion-weighted (DW) MRI. Methods: This retrospective study had institutional review board approval. Gadoxetic acid-enhanced and DW MR images were evaluated in 23 patients with 30 FNHs (26 histologically proven and 4 radiologically diagnosed). The lesion enhancement patterns of the hepatobiliary phase images were classified as heterogeneous or homogeneous signal intensity (SI), and as dominantly high/iso or low SI compared with those of adjacent liver parenchyma. Heterogeneous (any) SI lesions and homogeneous low SI lesions were categorised into the fibrosis group, whereas homogeneous high/iso SI lesions were categorised into the non-fibrosis group. Additionally, lesion SI on T2 weighted images, DW images and apparent diffusion coefficient (ADC) values were compared between the two groups. Results: The lesions showed heterogeneous high/iso SI (n=16), heterogeneous low SI (n=5), homogeneous high/iso SI (n=7) or homogeneous low SI (n=2) at the hepatobiliary phase MR images. The fibrosis group lesions were more likely to show high SI on DW images and T2 weighted images compared with those in the non-fibrosis group (p<0.05). ADC values tended to be lower in the fibrosis group than those in the non-fibrosis group without significance. Conclusion: FNH showed variable enhancement patterns on hepatobiliary phase images during gadoxetic acid-enhanced MRI. SI on DW and T2 weighted images differed according to the fibrosis component contained in the lesion. Advances in knowledge: FNH shows a wide spectrum of imaging findings on gadoxetic acid-enhanced MRI and DW MRI. PMID:23873903

  19. Intrasinusoidal cytotoxic CD8+ T cells in nodular regenerative hyperplasia of the liver.

    PubMed

    Ziol, Marianne; Poirel, Helene; Kountchou, Gisele N; Boyer, Olivier; Mohand, Djamila; Mouthon, Luc; Tepper, Maryline; Guillet, Jean-Gerard; Guettier, Catherine; Raphael, Martine; Beaugrand, Michel

    2004-10-01

    Diffuse nodular regenerative hyperplasia (NRH) of the liver is an acquired architectural disturbance that can lead to portal hypertension. Although frequently associated with autoimmune or hematologic malignancies, its exact pathogenesis remains largely unknown. We observed CD8+ cytotoxic T cells in the liver sinusoids of 14 of 44 NRH patients and explored possible relationships between these lymphocytes and vascular damage. The immunophenotype of intrahepatic lymphocytes was determined using immunohistochemical analysis and endothelial injury using the terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick-end labeling method for apoptosis combined with endothelial cell labeling. Controls for the quantitative analysis of liver-infiltrating lymphocytes consisted of patients with chronic hepatitis C or normal liver (n = 13 and n = 6, respectively). Liver specimens from the 14 patients dislayed intrasinusoidal infiltrate composed of CD3+ and CD8+ lymphocytes, located near atrophic liver cell plates. Significantly more granzyme B+ and CD57+ lymphocytes were observed in NRH than chronic hepatitis C samples with quantitatively similar CD8+ infiltrates. Double-labeling revealed apoptotic endothelial sinusoidal cells in CD8+ T-cell-infiltrated areas in all NRH samples but never in chronic hepatitis C or normal livers. T-cell receptor rearrangement or immunoscope analysis suggested liver-specific polyclonal or oligoclonal T-cell expansions. Clinical and biological characteristics of the 14 patients were similar to those observed in the 30 patients with NRH devoid of lymphocytic infiltration. We report here that CD8+ cytotoxic T cells infiltrated the liver sinusoids of a high percentage (32%) of NRH patients and suggest that some NRH cases might result from chronic, cytotoxic CD8+ T-lymphocyte targeting of sinusoidal endothelial cells. PMID:15492992

  20. Morphometric changes in subcortical structures of the central auditory pathway in mice with bilateral nodular heterotopia.

    PubMed

    Truong, Dongnhu T; Rendall, Amanda R; Rosen, Glenn D; Fitch, R Holly

    2015-04-01

    Malformations of cortical development (MCD) have been observed in human reading and language impaired populations. Injury-induced MCD in rodent models of reading disability show morphological changes in the auditory thalamic nucleus (medial geniculate nucleus; MGN) and auditory processing impairments, thus suggesting a link between MCD, MGN, and auditory processing behavior. Previous neuroanatomical examination of a BXD29 recombinant inbred strain (BXD29-Tlr4(lps-2J)/J) revealed MCD consisting of bilateral subcortical nodular heterotopia with partial callosal agenesis. Subsequent behavioral characterization showed a severe impairment in auditory processing-a deficient behavioral phenotype seen across both male and female BXD29-Tlr4(lps-2J)/J mice. In the present study we expanded upon the neuroanatomical findings in the BXD29-Tlr4(lps-2J)/J mutant mouse by investigating whether subcortical changes in cellular morphology are present in neural structures critical to central auditory processing (MGN, and the ventral and dorsal subdivisions of the cochlear nucleus; VCN and DCN, respectively). Stereological assessment of brain tissue of male and female BXD29-Tlr4(lps-2J)/J mice previously tested on an auditory processing battery revealed overall smaller neurons in the MGN of BXD29-Tlr4(lps-2J)/J mutant mice in comparison to BXD29/Ty coisogenic controls, regardless of sex. Interestingly, examination of the VCN and DCN revealed sexually dimorphic changes in neuronal size, with a distribution shift toward larger neurons in female BXD29-Tlr4(lps-2J)/J brains. These effects were not seen in males. Together, the combined data set supports and further expands the observed co-occurrence of MCD, auditory processing impairments, and changes in subcortical anatomy of the central auditory pathway. The current stereological findings also highlight sex differences in neuroanatomical presentation in the presence of a common auditory behavioral phenotype. PMID:25549859

  1. Nodular amyloidoma and primary pulmonary lymphoma with amyloid production: a differential diagnostic problem.

    PubMed

    Dacic, S; Colby, T V; Yousem, S A

    2000-09-01

    Nodular amyloidomas (NA) of the lung are non-neoplastic inflammatory nodules containing eosinophilic amyloid deposits and a lymphoplasmacytic infiltrate. In some instances, the extensive amyloid deposits may obscure an underlying lymphoproliferative disorder. The histologic and immunohistologic features that discriminate these two differential diagnostic possibilities were studied in this series of six cases of NA and five cases of primary low-grade malignant lymphomas of lung with secondary amyloid deposits (ML). Two of lymphoma cases showed histopathologic and immunophenotypic features of B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (B-cell CLL/SLL), and three cases were low-grade B-cell lymphoma derived from mucosa associated lymphoid tissue (MALT lymphoma). Key discriminating morphologic features between NA and ML included lymphatic tracking of the cellular infiltrate (3/5 ML; 1/6 NA), pleural infiltration (3/5 ML; 0/6 NA), sheet-like masses of plasma cells (5/5 ML; 0/6 NA) and reactive follicles (4/5 ML; 1/6 NA). Lesional circumscription, vascular and bronchial destruction, lymphoepithelial lesions, and granulomas were not helpful discriminators. Immunohistochemical features indicating a dominant CD20+, CD79a+ B-cell population (5/5 ML; 0/6 NA), light chain restriction (4/5 ML; 0/6 NA), and aberrant antigen expression of CD20/CD43 (2/5 ML; 0/6 NA) were helpful. Amyloid tumors with a reactive lymphoplasmacytic infiltrate can be separated from low-grade malignant lymphomas utilizing both histologic and immunohistochemical features. PMID:11007032

  2. Heavy Coffee Drinkers Show Lower Risk of Multiple Sclerosis

    MedlinePlus

    ... html Heavy Coffee Drinkers Show Lower Risk of Multiple Sclerosis But the finding isn't reason enough to ... coffee may have a lower risk of developing multiple sclerosis (MS), a new large study suggests. Researchers found ...

  3. Episodic Mood Changes Preceding an Exacerbation of Multiple Sclerosis

    PubMed Central

    Sharma, Priya; Morrow, Sarah A.; Owen, Richard J.

    2015-01-01

    Multiple sclerosis is a neurologic inflammatory disease that can manifest with psychiatric symptoms. Although depression is the most common psychiatric diagnosis in patients with multiple sclerosis, how depression develops is not fully understood. We present the case of an individual who displayed episodic mood changes preceding an exacerbation of multiple sclerosis symptoms. The clinical and research implications of this association are discussed. PMID:26835163

  4. Adie's Tonic Pupil in Systemic Sclerosis: A Rare Association

    PubMed Central

    Venkataraman, Anusha; Panda, Bijnya Birajita; Sirka, Chandrasekhar

    2015-01-01

    We report a rare association of Adie's tonic pupil in a patient with systemic sclerosis who was otherwise systemically stable. This paper is an effort to unravel whether the tonic pupil and systemic sclerosis are an association by chance (which may be the case) or systemic sclerosis is the source of the tonic pupil. PMID:26421204

  5. Coexistent arteriovenous malformation and hippocampal sclerosis.

    PubMed

    Prayson, Richard A; O'Toole, Elizabeth E

    2016-06-01

    Cavernous angiomas or cavernomas have been occasionally described in patients presenting with medically intractable epilepsy. Reports of cavernomas associated with a second pathology potentially causative of seizures have rarely been documented; most commonly, the second pathology is focal cortical dysplasia or less frequently, hippocampal sclerosis. To our knowledge, cases of arteriovenous malformation arising in this clinical setting and associated with hippocampal sclerosis have not been previously described. We report a 56-year-old woman who initially presented at age 24years with staring spells. Imaging studies revealed an arteriovenous malformation in the right parietal lobe. At age 51years, she represented with signs and symptoms related to a hemorrhage from the malformation. The patient underwent Gamma Knife radiosurgery (Elekta AB, Stockholm, Sweden) of the lesion. She subsequently developed seizures, refractory to medical management. MRI studies showed atrophy in the right hippocampus. She underwent resection of the right parietal lobe and hippocampus. Histopathologic examination of the right parietal lesion revealed an arteriovenous malformation marked by focally prominent vascular sclerosis, calcification and adjacent hemosiderin deposition. The hippocampus was marked by prominent neuronal loss and gliosis in the CA1 region, consistent with CA1 sclerosis or hippocampal sclerosis International League Against Epilepsy type 2. PMID:26899356

  6. [Therapeutic strategy against multiple sclerosis].

    PubMed

    Suzumura, Akio

    2008-11-01

    The pathogenesis of multiple sclerosis (MS) remains to be elucidated and there is no curative therapy against MS, though we have several disease modifying drugs. In this symposium. I introduce several new strategies against development of autoimmune processes and axonal degeneration in MS. Several mechanisms regulate immune system not to attack self components. One of the most potent regulatory cells is CD4 + CD25 + FoxP + regulatory T cells (Treg), which suppress development of both T helper 1 and 2. Thus, to increase the number and function of Treg is an approach to suppress autoimmune diseases. We have found recently that midkine suppresses the development of Treg. and that suppression of midkine by RNA aptamer alleviates symptoms of experimental autoimmune encephalomyetitis, an animal model of MS. by expanding Treg. Another important strategy against MS is to suppress axonal degeneration which reportedly occurs from an early stage of MS. We have found that the most toxic agent from activated macrophages and microglia is glutamate that was produced by glutaminase and released through gap-junction. Thus, inhibitor for glutaminase and gap-junction may be other candidates to treat MS. Interferon-beta also effectively suppress glutamate production by these cells and subsequently suppress development of axonal degeneration. PMID:19198124

  7. Multiple sclerosis and breast cancer.

    PubMed

    O'Malley, P W; Mulla, Z D; Nesic, O

    2015-09-15

    Multiple sclerosis (MS) and breast cancer (BC) share common features; most notably, both are more frequent in women than in men. In addition to the involvement of sex hormones, a number of genetic and pharmacological studies support a possible relationship between these two diseases. However, there are no conclusive epidemiological findings related to MS and BC worldwide, and there are no recent data for the US population. We conducted a case-control study using a hospital inpatient discharge dataset (21,536 cases and two control series totaling 59,581 controls) from the Texas Health Care Information Collection. We assessed occurrence of MS in BC cases and in two control series: diabetes mellitus type II, and open wounds. After controlling for age, race-ethnicity, and health insurance status, a statistically-significant protective association was detected: BC cases were 45% less likely than diabetic controls to have MS (OR=0.55, 95% CI=0.37-0.81), and 63% less likely than open wound controls to have MS (OR=0.37, 95% CI=0.21-0.66). Our study presented here is the only current assessment of the association between MS and BC in the USA and suggests a protective effect of MS on BC in the hospitalized population. PMID:26130448

  8. [Respiratory failure in disseminated sclerosis].

    PubMed

    Popova, L M; Avdiunina, I A; Alferova, V P

    2000-01-01

    The development and patterns of respiratory failure (RF) are analyzed in 9 patients with disseminated sclerosis (DS). Forced ventilation of the lungs was carried out with consideration for main location of the process. Relationship between patterns of respiratory disorders and neuroanatomy of respiratory regulation is discussed. Involvement of the corticospinal routes is paralleled by dissociation during functional pulmonary tests: spontaneous volumes are less than controlled inspirations. The most severe symptom complexes were observed in RF of predominantly bulbar localization: respiratory anarchy, blocking of airways caused by impaired swallowing, impaired mechanism of coughing reflex, loss of spontaneous respiration, sometimes apnea during sleeping. Involvement of the respiratory nuclei of medullary respiratory center and airways and of the corticonuclear routes of caudal cranial nerves causes the development of a triad of symptoms: glossopharyngolaryngeal paralysis, dysfunction of respiratory nuclei of medulla oblongata, and decreased sensitivity of respiratory center to CO2. Aspiration complications caused by dysphagia are characteristic of bulbar DS. Respiratory function in 5 patients without clinical picture of RF are specially discussed. The authors emphasize unfavorable prognostic significance of signs of extracorporeal obstruction indicating the probability of RF long before its manifestation. Special attention is paid to early diagnosis of symptoms of coming RF when evaluating the status of patients with DS during treatment. Timely use of respiratory resuscitation methods reduces the mortality and ensures a good chance for remissions with recovery of respiratory function, which are characteristic of RF. PMID:11014001

  9. 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

  10. Multiple sclerosis: Prospects and promise.

    PubMed

    Hauser, Stephen L; Chan, Jonah R; Oksenberg, Jorge R

    2013-09-01

    We have entered a golden era in multiple sclerosis (MS) research. Two decades ago, our understanding of the disease was largely descriptive and there were no approved therapies to modify the natural history of MS. Today, delineation of immune pathways relevant to MS have been clarified; a comprehensive map of genes that influence risk compiled; clues to environmental triggers identified; noninvasive in vivo monitoring of the MS disease process has been revolutionized by high-field MRI; and many effective therapies for the early, relapsing, component of MS now exist. However, major challenges remain. We still have no useful treatment for progressive MS (the holy grail of MS research), no means to repair injured axons or protect neurons, and extremely limited evidence to guide treatment decisions. Recent advances have set in place a foundation for development of increasingly selective immunotherapy for patients; application of genetic and genomic discoveries to improve therapeutic options; development of remyelination or neuroprotection therapies for progressive MS; and integrating clinical, imaging and genomic data for personalized medicine. MS has now advanced from the backwaters of autoimmune disease research to the front-line, and definitive answers, including cures, are now realistic goals for the next decade. Many of the breakthrough discoveries in MS have also resulted from meaningful interactions across disciplines, and especially from translational and basic scientists working closely with clinicians, highlighting that the clinical value of discoveries are most often revealed when ideas developed in the laboratory are tested at the bedside. PMID:23955638

  11. Cardiovascular disease in systemic sclerosis

    PubMed Central

    Cannarile, Francesca; Valentini, Valentina; Mirabelli, Giulia; Alunno, Alessia; Terenzi, Riccardo; Luccioli, Filippo; Bartoloni, Elena

    2015-01-01

    Cardiovascular (CV) system involvement is a frequent complication of autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). It still remains unclear if a premature atherosclerosis (ATS) occurs even in systemic sclerosis (SSc). Although microvascular disease is a hallmark of SSc, in the last few years a number of studies highlighted a higher prevalence of macrovascular disease in SSc patients in comparison to healthy individuals and these data have been correlated with a poorer prognosis. The mechanisms promoting ATS in SSc are not fully understood, but it is believed to be secondary to multi-system organ inflammation, endothelial wall damage and vasculopathy. Both traditional risk factors and endothelial dysfunction have been proposed to participate to the onset and progression of ATS in such patients. In particular, endothelial cell injury induced by anti-endothelial antibodies, ischemia/reperfusion damage, immune-mediated cytotoxicity represent the main causes of vascular injury together with an impaired vascular repair mechanism that determine a defective vasculogenesis. Aim of this review is to analyse both causes and clinical manifestations of macrovascular involvement and ATS in SSc. PMID:25705640

  12. The genetics of multiple sclerosis.

    PubMed

    Lin, Rui; Charlesworth, Jac; van der Mei, Ingrid; Taylor, Bruce V

    2012-10-01

    Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system. Improved prevention and treatment will depend on a greater understanding of the causes and mechanisms involved in its onset and progression. MS is clearly driven by both environmental and genetic factors. Established contributory environmental factors include lower ultraviolet radiation exposure and lower vitamin D levels, Epstein-Barr virus and smoking. Our current understanding of MS genetics is undergoing a major upgrade as new genetic technologies are applied to large MS studies. In this article, we review the current literature describing a genetic contribution to MS susceptibility and review the methods to detect genetic variants that may underlie the genetic contribution to MS. We also consider how reporting of genetic discoveries in MS in the lay press has caused some confusion among patients and their families, who, not surprisingly, think that these discoveries can be translated into an available genetic test to diagnose MS or recognise family members at risk of developing MS. We review the current limited clinical use of genetics in the diagnosis and management of MS. PMID:22976058

  13. [Cognitive impairment in multiple sclerosis].

    PubMed

    Ochi, Hirofumi

    2014-10-01

    Cognitive impairment may occur in up to 70% of all patients with multiple sclerosis (MS). Although MS can affect various sites within the central nervous system, a specific pattern of cognitive deficits tends to be seen, especially in the early stages of the disease. These deficits include problems with attention, information processing speed, and working memory. This constellation of deficits can occur with any disease course, and a minimal correlation has been found between physical disability assessed by EDSS and cognitive impairment. Many studies have shown that cognitive impairment is correlated with brain lesion volume, as well as brain atrophy. There are promising neuroimaging indicators that may be useful for identifying patients at risk for cognitive impairment, such as diffusion tensor imaging, the magnetization transfer ratio, and N-acetyl aspartate levels. Cognitive dysfunction is associated with adverse effects on quality of life, employment status, and social activities. Today, there are three avenues for treatment: disease modifying therapies, symptomatic treatments, and cognitive rehabilitation. Unfortunately, data linking therapeutic interventions are limited. A better understanding of cognitive function and its correlation with disease mechanisms will assist in providing a new comprehensive treatment strategy that begins immediately with the diagnosis of MS. PMID:25296874

  14. Endothelin-1 in systemic sclerosis

    PubMed Central

    Aghaei, Mehrdad; Gharibdost, Farhad; Zayeni, Habib; Akhlaghi, Maryam; Sedighi, Sima; Rostamian, Abduo Rahman; Aghdami, Naser; Shojaa, Mahdieh

    2012-01-01

    Introduction: Scleroderma is a systemic disorder with unknown etiology most notably characterized by skin thickening and organ damage. Endothelin-1 (ET-1) plays a role in skin fibrosis. The aim of this study was survey and comparison of ET-1 level in Systemic Sclerosis (SSc) patients with and without digital ulcer. Material and Methods: A cross-sectional analytical study conducted among the 95 patients with scleroderma in 2006 who were referred to the Rheumatology clinic in Shariati hospital of Tehran. The questionnaire was completed for every patient. Plasma level of endothelin-1 was also measured in all of them. The data was analyzed using SPSS software and statistical tests. Results: The result indicated, relationship among digital ulcers and digital pitting scars with plasma level of ET-1 were significant (P value < 0.05). We could not find any significant relationship between age and plasma level of ET-1. Conclusion: These data indicate plasma level of ET-1 in scleroderma patients with digital ulcer was higher than patients without digital ulcer. Thus, increase in plasma level of ET-1 could be effective in vascular damage, fibrosis, and skin thickness. PMID:23130253

  15. Rehabilitation challenges in multiple sclerosis.

    PubMed

    Burks, Jack S; Bigley, George Kim; Hill, Harry Haydon

    2009-10-01

    While current immunomodulating drugs aim to reduce multiple sclerosis (MS) exacerbations and slow disease progression, rehabilitation aims to improve and maintain the functional abilities of patients in the face of disease progression. An increasing number of journal articles are describing the value of the many rehabilitation interventions that can be used throughout the course of the disease, from the initial symptoms to the advanced stages. An integrated team of healthcare professionals is necessary to address a myriad of problems to reduce impairments, disabilities, and handicaps. The problems may be related to fatigue, weakness, spasticity, mobility, balance, pain, cognition, mood, relationships, bowel, bladder, sexual function, swallowing, speech, transportation, employment, recreation, and activities of daily living (ADL) such as dressing, eating, bathing, and household chores. The team can help prevent complications and secondary disabilities, while increasing patient safety. Improving neurologically related function, maintaining good relationships, and feeling productive and creative adds enormously to the quality of life of people with MS and their families. Rehabilitation is more than an 'extra' service that is given after medical therapies; it is an integral part of the management of the diverse set of problems encountered throughout the course of the disease. An interdisciplinary team may have many members, including physicians, nurses, physical therapists, occupational therapists, speech and language pathologists, psychotherapists, social workers, recreational therapists, vocational rehabilitation therapists, patients, families, and other caregivers. PMID:20182578

  16. [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. PMID:25732946

  17. Remyelination Therapy in Multiple Sclerosis

    PubMed Central

    Harlow, Danielle E.; Honce, Justin M.; Miravalle, Augusto A.

    2015-01-01

    Multiple sclerosis (MS) is an immune-mediated disorder of the central nervous system that results in destruction of the myelin sheath that surrounds axons and eventual neurodegeneration. Current treatments approved for the treatment of relapsing forms of MS target the aberrant immune response and successfully reduce the severity of attacks and frequency of relapses. Therapies are still needed that can repair damage particularly for the treatment of progressive forms of MS for which current therapies are relatively ineffective. Remyelination can restore neuronal function and prevent further neuronal loss and clinical disability. Recent advancements in our understanding of the molecular and cellular mechanisms regulating myelination, as well as the development of high-throughput screens to identify agents that enhance myelination, have lead to the identification of many potential remyelination therapies currently in preclinical and early clinical development. One problem that has plagued the development of treatments to promote remyelination is the difficulty in assessing remyelination in patients with current imaging techniques. Powerful new imaging technologies are making it easier to discern remyelination in patients, which is critical for the assessment of these new therapeutic strategies during clinical trials. This review will summarize what is currently known about remyelination failure in MS, strategies to overcome this failure, new therapeutic treatments in the pipeline for promoting remyelination in MS patients, and new imaging technologies for measuring remyelination in patients. PMID:26696956

  18. 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.

  19. Development of nodular regenerative hyperplasia (NRH) with portal hypertension following the administration of oxaliplatin for the recurrence of colon cancer.

    PubMed

    Takaya, Hiroaki; Kawaratani, Hideto; Nakanishi, Keisuke; Takeyama, Shinya; Morioka, Chie; Sawai, Masayoshi; Toyohara, Masahisa; Fujimoto, Masao; Yoshiji, Hitoshi; Yamao, Junichi; Fukui, Hiroshi

    2015-01-01

    Nodular regenerative hyperplasia (NRH) is associated with autoimmune and hematologic diseases and may lead to portal hypertension. We herein report a case of NRH diagnosed based on a liver biopsy. A 63-year-old woman developed esophageal varices and splenomegaly. She had undergone surgery for transverse colon cancer 24 years earlier and received systemic chemotherapy (FOLFOX4 including oxaliplatin) to treat lymph node metastasis 21 years after the operation. The present liver biopsy confirmed NRH, and, after two years, she received endoscopic injection sclerotherapy. Oxaliplatin was suspected to be the causative agent of NRH in this case. Therefore, physicians must consider the possibility of NRH in patients who receive chemotherapy. PMID:25748953

  20. Description of a Rare Case of Nodular Fasciitis of the Apical Aspect of the Upper Buccal Sulcus

    PubMed Central

    Souza, Ana Amélia; Cariri Neto, Eldon Guttenberg; de Araújo, Vera Cavalcanti; Passador-Santos, Fabricio; Alves, Maria Teresa de Seixas; Soares, Andresa Borges

    2016-01-01

    This report describes a rare case of nodular fasciitis (NF) of the oral cavity, discussing the clinical, histological, and immunohistochemical characteristics. Histopathologic diagnosis of this type of lesion can be challenging due to its differential diagnosis, which principally includes sarcoma. The patient presented with a painless, well-defined nodule, reported as increasing in size, located at the apical aspect of the upper left buccal sulcus. Histologically, the lesion revealed spindle cell proliferation arranged in fascicles, while immunohistochemistry demonstrated positivity for smooth muscle actin. Eight months after complete surgical excision, no signs of local recurrence have been observed. PMID:27066277

  1. 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.

  2. De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia.

    PubMed

    Leblond, Claire S; Webber, Alina; Gan-Or, Ziv; Moore, Fraser; Dagher, Alain; Dion, Patrick A; Rouleau, Guy A

    2016-04-01

    Juvenile amyotrophic lateral sclerosis (jALS) is characterized by progressive upper and lower motor neuron degeneration leading to facial muscle spasticity, spastic dysarthria, and spastic gait with an early onset (before 25 years old). Unlike adult-onset amyotrophic lateral sclerosis (ALS), patients with jALS tend to have slower progression of motor neuron disease and prolonged survival to a normal life expectancy. Mutations in FUS gene have been reported in jALS,(1) including p.P525L mutation that has been consistently associated with early onset and aggressive presentation.(2) Here, we report a patient carrying p.P525L FUS mutation and experiencing an aggressive course of ALS presenting with dysphonia and diplopia. PMID:27123482

  3. 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

  4. Parental Understanding of Tuberous Sclerosis Complex.

    PubMed

    Samia, Pauline; Donald, Kirsten A; Schlegel, Birgit; Wilmshurst, Jo M

    2015-09-01

    Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of the parents of 21 children with tuberous sclerosis complex was undertaken. Median parental age was 38 (interquartile range 34.5-45) years. Parents were randomly allocated to receive written information about the condition, or to receive verbal counseling already established in clinic. A significant difference (P = .001) was observed in the change in the mean knowledge scores for the parent group that received written information (34.2 at baseline, 51.7 at the second visit. This impact was higher in parents with an education level of at least grade 8 (P = .003). Parental understanding of tuberous sclerosis complex can be improved by provision of written information and should be routinely available in a readily understandable format. PMID:25414235

  5. Emerging therapies for treatment of multiple sclerosis

    PubMed Central

    Corboy, John R; Miravalle, Augusto A

    2010-01-01

    In the last decade, a new armamentarium of immune-based therapies have been developed and tested in patients with multiple sclerosis. Some of these therapies are showing a high level of efficacy, with an acceptable adverse effect profile. Because present therapies have significant limitations in slowing disease progression, require injections, are sometimes associated with significant side effects of immunosuppression, and do little to reverse disability, identifying more effective treatments is an important goal for clinical research in multiple sclerosis. However, in order to improve our current approach to disease-modifying therapies, it is imperative to promote the development of individualized therapy strategies. PMID:22096357

  6. Electroconvulsive therapy in patients with multiple sclerosis.

    PubMed

    Rasmussen, Keith G; Keegan, B Mark

    2007-09-01

    There are relatively few case reports of electroconvulsive therapy (ECT) in patients with multiple sclerosis. We present 3 such patients, all of whom received safe, effective ECT without evidence of acute neurological deterioration. We conclude that patients with multiple sclerosis being considered for ECT should have a thorough neurological evaluation, and the informed consent process should include discussion of the possibility of neurological deterioration. However, review of the literature and of our 3 cases does reveal that ECT can be used safely, at least in the short term. Long-term outcomes in such patients remain uncertain. PMID:17804994

  7. Tuberous sclerosis complex: A case report

    PubMed Central

    Sarkar, Soumyabrata; Khaitan, Tanya; Sinha, Rupam; Kabiraj, Arpita

    2016-01-01

    Tuberous sclerosis complex is an unusual autosomal dominant neurocutaneous syndrome characterized by the development of benign tumors affecting different body systems affecting the brain, skin, retina, and viscera. It is characterized by cutaneous changes, neurologic conditions, and the formation of hamartomas in multiple organs leading to morbidity and mortality. The most common oral manifestations are fibromas, gingival hyperplasia, and enamel hypoplasia. The management of these patients is often multidisciplinary involving specialists from various fields. Here, we present a case report of a 26-old-year male patient with characteristic clinical, radiological, and histological features of tuberous sclerosis complex. PMID:27307675

  8. 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. PMID:26515617

  9. [Large vessels vasculopathy in systemic sclerosis].

    PubMed

    Tejera Segura, Beatriz; Ferraz-Amaro, Iván

    2015-12-01

    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. PMID:25726305

  10. 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. PMID:7436394

  11. 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. PMID:25694551

  12. Taste dysfunction in multiple sclerosis.

    PubMed

    Doty, Richard L; Tourbier, Isabelle A; Pham, Dzung L; Cuzzocreo, Jennifer L; Udupa, Jayaram K; Karacali, Bilge; Beals, Evan; Fabius, Laura; Leon-Sarmiento, Fidias E; Moonis, Gul; Kim, Taehoon; Mihama, Toru; Geckle, Rena J; Yousem, David M

    2016-04-01

    Empirical studies of taste function in multiple sclerosis (MS) are rare. Moreover, a detailed assessment of whether quantitative measures of taste function correlate with the punctate and patchy myelin-related lesions found throughout the CNS of MS patients has not been made. We administered a 96-trial test of sweet (sucrose), sour (citric acid), bitter (caffeine) and salty (NaCl) taste perception to the left and right anterior (CN VII) and posterior (CN IX) tongue regions of 73 MS patients and 73 matched controls. The number and volume of lesions were assessed using quantitative MRI in 52 brain regions of 63 of the MS patients. Taste identification scores were significantly lower in the MS patients for sucrose (p = 0.0002), citric acid (p = 0.0001), caffeine (p = 0.0372) and NaCl (p = 0.0004) and were present in both anterior and posterior tongue regions. The percent of MS patients with identification scores falling below the 5th percentile of controls was 15.07 % for caffeine, 21.9 % for citric acid, 24.66 % for sucrose, and 31.50 % for NaCl. Such scores were inversely correlated with lesion volumes in the temporal, medial frontal, and superior frontal lobes, and with the number of lesions in the left and right superior frontal lobes, right anterior cingulate gyrus, and left parietal operculum. Regardless of the subject group, women outperformed men on the taste measures. These findings indicate that a sizable number of MS patients exhibit taste deficits that are associated with MS-related lesions throughout the brain. PMID:26810729

  13. Hearing disorders in multiple sclerosis.

    PubMed

    Furst, Miriam; Levine, Robert A

    2015-01-01

    Multiple sclerosis (MS) is a disease that is both a focal inflammatory and a chronic neurodegenerative disease. The focal inflammatory component is characterized by destruction of central nervous system myelin, including the spinal cord; as such it can impair any central neural system, including the auditory system. While on the one hand auditory complaints in MS patients are rare compared to other senses, such as vision and proprioception, on the other hand auditory tests of precise neural timing are never "silent." Whenever focal MS lesions are detected involving the pontine auditory pathway, auditory tests requiring precise neural timing are always abnormal, while auditory functions not requiring such precise timing are often normal. Azimuth sound localization is accomplished by comparing the timing and loudness of the sound at the two ears. Hence tests of azimuth sound localization must obligatorily involve the central nervous system and particularly the brainstem. Whenever a focal lesion was localized to the pontine auditory pathway, timing tests were always abnormal, but loudness tests were not. Moreover, a timing test that included only high-frequency sounds was very often abnormal, even when there was no detectable focal MS lesion involving the pontine auditory pathway. This test may be a marker for the chronic neurodegenerative aspect of MS, and, as such could be used to complement the magnetic resonance imaging scan in monitoring the neurodegenerative aspect of MS. Studies of MS brainstem lesion location and auditory function have led to advances in understanding how the human brain processes sound. The brain processes binaural sounds independently for time and level in a two-stage process. The first stage is at the level of the superior olivary complex (SOC) and the second at a level rostral to the SOC. PMID:25726295

  14. Retroviruses and amyotrophic lateral sclerosis

    PubMed Central

    Alfahad, Tariq; Nath, Avindra

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive, invariably fatal neurologic disorder resulting from upper and lower motor neuron degeneration, which typically develops during the sixth or seventh decade of life, and is diagnosed based on standard clinical criteria. Its underlying cause remains undetermined. The disease may occur with increased frequency within certain families, often in association with specific genomic mutations, while some sporadic cases have been linked to environmental toxins or trauma. Another possibility, first proposed in the 1970s, is that retroviruses play a role in pathogenesis. In this paper, we review the published literature for evidence that ALS is associated either with infection by an exogenous retrovirus or with the expression of human endogenous retroviral (HERV) sequences in cells of the central nervous system. A small percentage of persons infected with the human immunodeficiency virus-1 (HIV-1) or human T cell leukemia virus-1 (HTLV-1) develop ALS-like syndromes. While HTLV-1 associated ALS-like syndrome has several features that may distinguish it from classical ALS, HIV-infected patients may develop neurological manifestations that resemble classical ALS although it occurs at a younger age and they may show a dramatic improvement following the initiation of antiretroviral therapy. However, most patients with probable or definite ALS show no evidence of HIV-1 or HTLV-1 infection. In contrast, recent reports have shown a stronger association with HERV, as analysis of serum samples, and postmortem brain tissue from a number of patients with a classical ALS has revealed significantly increased expression of HERV-K, compared to controls. These findings suggest that endogenous retroviral elements are involved in the pathophysiology of ALS, but there is no evidence that they are the primary cause of the syndrome. PMID:23707220

  15. Cardiac manifestations in systemic sclerosis

    PubMed Central

    Lambova, Sevdalina

    2014-01-01

    Primary cardiac involvement, which develops as a direct consequence of systemic sclerosis (SSc), may manifest as myocardial damage, fibrosis of the conduction system, pericardial and, less frequently, as valvular disease. In addition, cardiac complications in SSc may develop as a secondary phenomenon due to pulmonary arterial hypertension and kidney pathology. The prevalence of primary cardiac involvement in SSc is variable and difficult to determine because of the diversity of cardiac manifestations, the presence of subclinical periods, the type of diagnostic tools applied, and the diversity of patient populations. When clinically manifested, cardiac involvement is thought to be an important prognostic factor. Profound microvascular disease is a pathognomonic feature of SSc, as both vasospasm and structural alterations are present. Such alterations are thought to predict macrovascular atherosclerosis over time. There are contradictory reports regarding the prevalence of atherosclerosis in SSc. According to some authors, the prevalence of atherosclerosis of the large epicardial coronary arteries is similar to that of the general population, in contrast with other rheumatic diseases such as rheumatoid arthritis and systemic lupus erythematosus. However, the level of inflammation in SSc is inferior. Thus, the atherosclerotic process may not be as aggressive and not easily detectable in smaller studies. Echocardiography (especially tissue Doppler imaging), single-photon emission computed tomography, magnetic resonance imaging and cardiac computed tomography are sensitive techniques for earlier detection of both structural and functional scleroderma-related cardiac pathologies. Screening for subclinical cardiac involvement via modern, sensitive tools provides an opportunity for early diagnosis and treatment, which is of crucial importance for a positive outcome. PMID:25276300

  16. [Treatments of progressive systemic sclerosis].

    PubMed

    Vayssairat, M; Abdoucheli-Baudot, N; Gaitz, J P

    2001-10-01

    Progressive Systemic Sclerosis (PSS) is still an incurable disease but there are treatments for it, and the list of proposed treatments is long. The methodology of trials concerning PSS is complex, due to the low prevalence of the disease and therefore its financial interest for pharmaceutical companies, the lack of simple end points for efficacy, and the large number of clinical expressions with various prognoses. These causes explain why most open studies are fiercely positive, and why controlled studies are so rare. The progress made during the last 10 years concern 1) the diagnosis, which is now made earlier due to capillaroscopy and antibody assays, especially of anticentromere antibodies, 2) better knowledge of the prognosis, due to the classification of PSS into limited and the diffuse forms which have different prognoses, and 3) the recognition of a serious complication of the disease, ie. pulmonary hypertension, which can now be detected by non-invasive methods. All these improvements will also improve the methodology of future trials of drugs for treating PSS. In this ocean of uncertainties, some treatments have a valid background, and 3 visceral locations of PSS can be efficiently treated: renal involvement, with angiotensin-converting enzyme inhibitors, respiratory involvement, with D-penicillamine, and pulmonary hypertension, with prostacyclin derivatives. Corticosteroids are suspected to increase the risk of renal complications. Calcium blockers are considered a useful symptomatic treatment of the associated Raynaud's phenomenon and of the risk of digital necrosis, and may also constitute a treatment of PSS itself. A recent trial conducted by the French Microcirculation Society and its acrosyndrome Study Group considered the effects of an oral derivative of prostacyclin. Beneficial effects were: a reduction of the risk of digital necroses, improved overall wellbeing, less necessity for hospitalizations, fewer giant capillaries, and a dramatic fall in

  17. 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

  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

    2016-07-01

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

    PubMed

    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 immunoprofile. 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 overallsurvival 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

  20. 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

  1. 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. PMID:26447061

  2. Double cortical stimulation in amyotrophic lateral sclerosis.

    PubMed Central

    Yokota, T; Yoshino, A; Inaba, A; Saito, Y

    1996-01-01

    OBJECTIVE: Transcranial double magnetic stimulation on the motor cortex was used to investigate central motor tract function in 16 patients with amyotrophic lateral sclerosis, five with spinal muscular atrophy, and 16 age matched normal controls. METHODS: Surface EMG responses were recorded from the relaxed abductor pollicis brevis (APB) muscle. RESULTS: Responses to test stimuli were markedly attenuated by a subthreshold conditioning stimulus given at a condition-test (C-T) interval of 1-4 ms in normal controls and patients with spinal muscular atrophy, but attenuation was mild in patients with amyotrophic lateral sclerosis. In the normal controls this suppression was caused by activation of the intracortical inhibitory mechanism because responses to electrical test stimuli and the H wave were not suppressed by the same magnetic subthreshold conditioning stimulus. In amyotrophic lateral sclerosis the effect of the conditioning cortical stimulus on the H wave was also in the normal range. CONCLUSION: The intracortical inhibitory mechanism may be impaired in patients with amyotrophic lateral sclerosis. PMID:8971106

  3. 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.

  4. Psychiatric disorders in multiple sclerosis patients.

    PubMed

    Fazzito, Mirella Martins; Jordy, Sérgio Semeraro; Tilbery, Charles Peter

    2009-09-01

    Multiple sclerosis (MS) is a demyelinating disease showing variable clinical presentation. Optic neuritis is the most common symptom, followed by motor and sensitive manifestations. It is known that this disease may be related to several psychiatric disorders, especially depression. In this study we will discribe 5 cases of MS patients harboring psychiatric disorder related or unchained by the disease itself. PMID:19722046

  5. Group Work for Persons with Multiple Sclerosis.

    ERIC Educational Resources Information Center

    Gordon, Phyllis A.; And Others

    1996-01-01

    Discusses the use of group counseling strategies for people with Multiple Sclerosis (MS). Aims to provide counselors with information about pertinent factors related to MS that require careful consideration when employing general group techniques. Looks at group effectiveness, forming the group, and various types of groups, and offers a case…

  6. [Sporadic amyotrophic lateral sclerosis. Diagnostic criteria].

    PubMed

    Godoy, J M; de Oliveira, M A; de Moraes Neto, J B; Balassiano, S L; Montagna, N; Pinto, J R; Skacel, M

    1993-06-01

    The authors report two cases of amyotrophic lateral sclerosis (ALS) misdiagnosis (a craniocervical junction disorder, and a cervical spinal cord ependymoma). They review some causes of ALS-like syndrome and propose a protocol to be adopted for the study of all patients who present clinical abnormalities suggesting ALS. PMID:8274087

  7. An Unusual Case of Perinatal Tuberous Sclerosis

    PubMed Central

    Hegde, Deeparaj Ganapati; Mondkar, Jayashree; Panchal, Harshad

    2014-01-01

    We report a case of a neonate who presented to us with multiple rhabdomyomas of heart, cortical tubers in the brain and skeletal anomalies such as Pierre Robin sequence, bilateral clubfoot and lower small bowel obstruction. Though a diagnosis of neonatal tuberous sclerosis was made, the association of skeletal anomalies and intestinal obstruction was a rare and unusual finding. PMID:25024981

  8. Fructose Malabsorption in Systemic Sclerosis.

    PubMed

    Marie, Isabelle; Leroi, Anne-Marie; Gourcerol, Guillaume; Levesque, Hervé; Ménard, Jean-François; Ducrotte, Philippe

    2015-09-01

    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 clinical manifestations

  9. 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

  10. 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

  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. 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. PMID:23613154

  13. Management of women with multiple sclerosis through pregnancy and after childbirth

    PubMed Central

    Coyle, Patricia K.

    2016-01-01

    Multiple sclerosis (MS) is a major acquired neurologic disease of young adults. The prototypic patient is a young woman of reproductive age. Gender preference is becoming more pronounced, since MS is increasing specifically among women. Any healthcare provider who deals with MS must be prepared to discuss pregnancy issues, and provide appropriate counseling. This is now complicated by the availability of multiple treatment options. There is growing literature on which to base recommendations, particularly regarding washout periods. After a brief background introduction, this review will discuss state-of-the-art family planning counseling in the treatment era, divided into prepregnancy, pregnancy, and postpartum MS issues. PMID:27134675

  14. Variables associated with patient activation in persons with multiple sclerosis.

    PubMed

    Goodworth, Marie-Christine R; Stepleman, Lara; Hibbard, Judith; Johns, Lisa; Wright, Dustin; Hughes, Mary D; Williams, Mitzi J

    2016-01-01

    Identifying variables associated with patient activation in the multiple sclerosis population could serve to facilitate better multiple sclerosis self-management behaviors. Using a cross-sectional survey design, 199 participants were recruited from a multiple sclerosis center in the Southeastern United States. Depression, multiple sclerosis quality of life, and multiple Sclerosis self-efficacy were all significantly correlated with patient activation. Results of a hierarchical regression indicated that patient activation was significantly related to educational attainment, depression, and self-efficacy but not to quality of life. The results suggest several possible targets for intervention to increase patient activation, including health literacy, depression symptoms, and self-efficacy for multiple sclerosis disease management. PMID:24591120

  15. Testate amoeba Rhogostoma minus Belar, 1921, associated with nodular gill disease of rainbow trout, Oncorhynchus mykiss (Walbaum).

    PubMed

    Dyková, I; Tyml, T

    2016-05-01

    The case study targeted to determine the aetiology of nodular gill disease (NGD) of farmed rainbow trout. The methods included microscopical examination of gill material in fresh, culturing of isolated organisms, histology, transmission electron microscopy and molecular biology identification. The results revealed an intravital colonization of fish gills by the testate amoeba Rhogostoma minus Belar, 1921. Rhogostoma infection was found in all fish examined microscopically (15/15); in contrast, naked amoebae related to fully developed NGD lesions were found in minority of these fish (5/15). They belonged to four genera, Acanthamoeba, Vermamoeba, Naegleria and Vannella. Results presented in this study contribute to the mosaic of findings that contrary to amoebic gill disease of marine fish turn attention to the possibility of the heterogeneous, multi-amoeba-species and multifactorial aetiology of NGD. PMID:25952929

  16. Aleukemic Leukemia Cutis Manifesting with Disseminated Nodular Eruptions and a Plaque Preceding Acute Monocytic Leukemia: A Case Report

    PubMed Central

    Yonal, Ipek; Hindilerden, Fehmi; Coskun, Raif; Dogan, Oner Ibrahim; Nalcaci, Meliha

    2011-01-01

    Aleukemic leukemia cutis (ALC), a discrete tumor of leukemic cells involving the skin, may be the first manifestation of acute myeloid leukemia, preceding the onset in marrow and blood by months and years. ALC is often difficult to diagnose and is associated with a dismal prognosis. A 63-year-old male presented with nodular swellings on the face, a plaque extending over the right shoulder and multiple enlarged cervical lymph nodes. The skin biopsy of the plaque lesion showed a diffuse neoplastic infiltration extending from the dermis to subcutaneous tissue with diffuse positivity for myeloperoxidase and focal positivity for CD34 on immunohistochemical staining. The diagnosis was leukemia cutis. One month later, acute monocytic leukemia (FAB AML-M5b) was diagnosed. The patient died on the seventh month of diagnosis. PMID:22187541

  17. Perineal nodular indurations ("accessory testicles") in cyclists. Fine needle aspiration cytologic and pathologic findings in two cases.

    PubMed

    Vuong, P N; Camuzard, P; Schoonaert, M F

    1988-01-01

    The cytologic and histologic findings from two cases of perineal nodular indurations observed in two cyclists are reported. These lesions, also referred to as "accessory testicles" or "third testicle" or "ischial hygromas" of cyclists, consist of a localized aseptic area of necrosis with pseudocyst formation involving connective tissue in the superficial fascia of the perineum. These histologic findings, which were seen in the subsequent surgical specimens in these two cases, were reflected in the fine needle aspiration findings. The aspirates contained few cellular elements, mainly a few vacuolated histiocytes, against a background of fibrinous material. These indurations, which develop as a result of repeated, chronic microtrauma to the perineum impressed by the vibration of the saddle of the bicycle, constitute an authentic handicap for the professional cyclist and are a contraindication to cycling for amateur cyclists. PMID:3336958

  18. Rare case of an abdominal mass: Reactive nodular fibrous pseudotumor of the stomach encroaching on multiple abdominal organs

    PubMed Central

    Yi, Xiao-Jiang; Chen, Chuang-Qi; Li, Yin; Ma, Jin-Ping; Li, Zhi-Xun; Cai, Shi-Rong; He, Yu-Long

    2014-01-01

    Reactive nodular fibrous pseudotumor (RNFP), which presents abdominal clinical manifestations and malignant radiographic results, usually requires radical resection as the treatment. However, RNFP has been recently described as an extremely rare benign post-inflammatory lesion of a reactive nature, which typically arises from the sub-serosal layer of the digestive tract or within the surrounding mesentery in association with local injury or inflammation. In addition, a postoperative diagnosis is necessary to differentiate it from the other reactive processes of the abdomen. Furthermore, RNFP shows a good prognosis without signs of recurrence or metastasis. A 16-year-old girl presented with a 3-mo history of epigastric discomfort, and auxiliary examinations suggested a malignant tumor originating from the stomach; postoperative pathology confirmed RNFP, and after a 2-year follow-up period, the patient did not display any signs of recurrence. This case highlights the importance of preoperative pathology for surgeons who may encounter similar cases. PMID:24749124

  19. 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.

  20. 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

  1. 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

  2. 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

  3. 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. PMID:26847090

  4. Multiple sclerosis--new treatment modalities.

    PubMed

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

    2015-12-01

    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

  5. [Common German language nomenclature for systemic sclerosis].

    PubMed

    Aringer, M; Müller-Ladner, U; Burkhardt, H; Distler, J H W; Distler, O; Graninger, W B; Günther, C; Hunzelmann, N; Kiener, H; Sticherling, M; Sunderkötter, C; Walker, U A; Riemekasten, G

    2015-03-01

    Large data bases and the projects arising from them have led to a much improved understanding of systemic sclerosis over the last decade. Serology has developed further so that more autoantibodies are available for routine testing. Capillary microscopy has become standard and relevant progress has also been made in therapy. Many diagnostic terms found in medical documentation do not adequately reflect this progress. The nomenclature is inconsistent and, therefore, confusing. The international classification of diseases (ICD) nomenclature is, from our point of view, also in need of improvement. This article aims to reestablish a common German language standard for systemic sclerosis, which reflects current knowledge and is suitable for implementation in the clinical routine. PMID:25805510

  6. Depression among the Moroccan systemic sclerosis.

    PubMed

    Wafki, Fahd; Amine, Bouchra; Ibn Yacoub, Yousra; Laatiriss, Assia; Znat, Fatima; Abouqal, Redouane; Hajjaj-Hassouni, Najia

    2012-01-01

    To determine the prevalence and predictors factors of depression in Moroccan patients with systemic sclerosis (SSc), we conducted a cross-sectional study of 59 Moroccan patients with systemic sclerosis. Patients were assessed by using the Patient Health Questionnaire depression scale "PHQ-9" and through extensive clinical histories and medical examinations. The Arabic version of HAQ and SF-36 was used to assess functional disability and health status, respectively. Forty-six patients (77.4%) presented symptoms of depression. Thirty six (61%) have a major depressive syndrome and 10 (16.4%) have a minor depressive syndrome. The PHQ-9 score was significantly higher in the patient with prolonged disease duration, severe joint pain, higher disease severity, and important acute-phase reactants. Also, depression had a negative impact on physical and mental scores. Systemic scleroderma is associated with a high prevalence of depression. Screening for depression among patients with SSc is recommended and it should be assessed for routinely. PMID:21629986

  7. Current frontiers in systemic sclerosis pathogenesis.

    PubMed

    Ciechomska, Marzena; van Laar, Jacob; O'Reilly, Steven

    2015-06-01

    Systemic sclerosis is an autoimmune disease characterised by vascular dysfunction, impaired angiogenesis, inflammation and fibrosis. There is no currently accepted disease-modifying treatment with only autologous stem cell transplant showing clinically meaningful benefit. The lack of treatment options reflects our lack of understanding of the precise molecular mechanisms occurring in the disease. Recent investigations have begun to decipher the molecular pathways underpinning the different aspects of the disease and may provide a rational clinical target(s). Uncovering the molecular mechanisms of the disease is important in understanding systemic sclerosis treatment. The aim of this review was to examine the current thinking in SSc pathogenesis and will offer novel areas for research which may yield novel therapeutics. PMID:25712746

  8. Update in vitamin D and multiple sclerosis.

    PubMed

    Alharbi, Fatimah M

    2015-10-01

    Multiple sclerosis (MS) is a common neurological disease, and its etiology remains unknown. In recent years, increasing attention has been paid to the possible association between MS and vitamin D deficiency. Here, we review the current literature between MS and vitamin D, showing clear evidence that vitamin D deficiency is a risk factor for MS despite the lack of direct evidence for the effects of vitamin D in MS progression. PMID:26492110

  9. Gastric Antral Vascular Ectasia in Systemic Sclerosis

    PubMed Central

    Johnson, Jill; Derk, Chris T.

    2011-01-01

    Gastric antral vascular ectasia is a not so well-understood, and more rare, gastrointestinal manifestation of Systemic Sclerosis which can lead to chronic anemia. A high suspicion and better understanding of this rare manifestation is needed for early detection and treatment. Therapeutic regiments include iron supplementation with acid suppressive therapy, while endoscopic intervention has been shown to be successful in most cases, with gastrectomy or antrectomy rarely needed. PMID:22121374

  10. Progressive multiple sclerosis: characteristics and management.

    PubMed

    Hawker, Kathleen

    2011-05-01

    Progressive multiple sclerosis (MS) consists of 3 phenotypic subtypes: secondary progressive MS, primary progressive MS, and progressive relapsing MS. There has been a paucity of approved treatments for these subtypes possibly driven by irreversible neurodegeneration within the central nervous system and not amenable to drugs that target inflammation. This article reviews magnetic resonance imaging and clinical data that show that progression may occur early in the course of MS and specific subsets of progressive patients may respond to disease modifying drugs. PMID:21439451

  11. Update in vitamin D and multiple sclerosis

    PubMed Central

    Alharbi, Fatimah M.

    2015-01-01

    Multiple sclerosis (MS) is a common neurological disease, and its etiology remains unknown. In recent years, increasing attention has been paid to the possible association between MS and vitamin D deficiency. Here, we review the current literature between MS and vitamin D, showing clear evidence that vitamin D deficiency is a risk factor for MS despite the lack of direct evidence for the effects of vitamin D in MS progression. PMID:26492110

  12. Current developments in pharmacogenomics of multiple sclerosis.

    PubMed

    Carlson, Rebecca J; Doucette, J Ronald; Nazarali, Adil J

    2014-11-01

    Pharmacogenomics has a significant potential to impact how we treat diseases. It involves targeting genetically identifiable populations with therapeutic interventions that promises to yield immediate positive health outcomes with lower or no side effects. The 'trial and error' method of treatment will no longer be necessary with the successful implementation of personalized medicine. The following is an overview of some new developments in pharmacogenomics of multiple sclerosis, and how it has the potential to improve future treatment. PMID:25118615

  13. Recurrent bleeding of angiomyolipomas in tuberous sclerosis.

    PubMed

    Chatterjee, T; Heindel, W; Vorreuther, R; Engelmann, U; Lackner, K

    1996-01-01

    The diagnostic and therapeutic problems of renal hamartomas are illustrated by a case of recurrence of bleeding angiomyolipomas associated with tuberous sclerosis. Ultrasound and computed tomography provide clear evidence of lipomatous formation while, in rare instances, angiography can demonstrate the existence of multiple vascular tumor compartments. In view of the risk of bleeding, multiple or very large angiomyolipomas should be treated by interventional radiology in the form of superselective tumor embolization or by the most conservative surgery possible. PMID:8903555

  14. Pediatric acquired CNS demyelinating syndromes: Features associated with multiple sclerosis.

    PubMed

    Hintzen, Rogier Q; Dale, Russell C; Neuteboom, Rinze F; Mar, Soe; Banwell, Brenda

    2016-08-30

    Approximately one-third of children with an acquired demyelinating syndrome (ADS) will be diagnosed with multiple sclerosis (MS), either at onset according to the 2010 McDonald criteria, or on the basis of clinical or MRI evidence of relapsing disease, in the majority of patients within 2-4 years. ADS in adolescents, female patients, and patients with polyfocal deficits is associated with the highest likelihood of MS, while children with acute disseminated encephalomyelitis, those with documented preceding infection, and ADS presentation in young children more commonly portends a monophasic outcome. While pediatric MS associates with similar genetic risk alleles as have been documented in adult-onset MS, such associations are not diagnostically valuable at the individual level. The presence of antibodies directed against aquaporin-4 strongly supports a diagnosis of neuromyelitis optica, and should be assayed in children manifesting with severe optic neuritis, longitudinally extensive myelitis, or brainstem/hypothalamic syndromes. Further research will determine whether other antibody signatures are indicative of relapsing demyelination distinct from MS. PMID:27572864

  15. Molecular biomarkers in cerebrospinal fluid of multiple sclerosis patients.

    PubMed

    Fitzner, Brit; Hecker, Michael; Zettl, Uwe Klaus

    2015-10-01

    Multiple sclerosis (MS) is a chronic immune-mediated disease of the central nervous system, usually occurring in young adults and leading to disability. Despite the progress in technology and intensive research work of the last years, diagnosing MS can still be challenging. A heterogenic and complex pathophysiology with various types of disease courses makes MS unique for each patient. There is an urgent need to identify markers facilitating rapid and accurate diagnosis and prognostic assessments with regard to optimal therapy for each MS patient. Cerebrospinal fluid (CSF) is an outstanding source of specific markers related to MS pathology. Molecules reflecting specific pathological processes, such as inflammation, cellular damage, and loss of blood-brain-barrier integrity, are detectable in CSF. Clinically used biomarkers of CSF are oligoclonal bands, IgG-index, measles-rubella-zoster-reaction, anti-aquaporin 4 antibodies, and antibodies against John Cunningham virus. Many other potential biomarkers have been proposed in recent years. In this review we examine the current scientific knowledge on CSF molecular markers that could guide diagnosis and discrimination of different MS forms, support treatment decisions, or be helpful in monitoring and predicting disease progression, therapy response, and complications such as opportunistic infections. PMID:26071103

  16. 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

  17. 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. PMID:26780251

  18. MRI in the evaluation of pediatric multiple sclerosis.

    PubMed

    Banwell, Brenda; Arnold, Douglas L; Tillema, Jan-Mendelt; Rocca, Maria A; Filippi, Massimo; Weinstock-Guttman, Bianca; Zivadinov, Robert; Sormani, Maria Pia

    2016-08-30

    MRI plays a pivotal role in the diagnosis of multiple sclerosis (MS) in children, as it does in adults. The presence of multiple lesions in CNS locations commonly affected by MS, along with the presence of both enhancing and nonenhancing lesions, can facilitate a diagnosis of MS at the time of a first attack, whereas the accrual of serial lesions or new clinical attacks over time confirms the diagnosis in patients not meeting such criteria at onset. T2 and enhancing lesion accrual could serve as a primary outcome metric for pediatric MS clinical trials of selected therapies with anti-inflammatory activity in order to facilitate feasible trial size numbers. More-advanced MRI techniques reveal the impact of MS on tissue integrity within both T2-bright and T1-hypointense lesions and regions of normal-appearing tissue. Volumetric MRI analyses quantify the impact of MS on age-expected brain growth, and fMRI reveals activation and resting-state functional connectivity patterns in patients with pediatric MS that differ from those seen in healthy age-matched youth. Such studies are of critical importance because MS onset during childhood may profoundly influence maturing and actively myelinating neural networks. High-field MRI visualizes MS pathology at a near-microscopic level and has the potential to more fully explain mechanisms for cognitive impairment, fatigue, and disability in patients with pediatric MS. PMID:27572868

  19. Symptomatic Therapy and Rehabilitation in Primary Progressive Multiple Sclerosis

    PubMed Central

    Khan, Fary; Amatya, Bhasker; Turner-Stokes, Lynne

    2011-01-01

    Multiple sclerosis (MS) is an autoimmune inflammatory demyelinating disease of the central nervous system and a major cause of chronic neurological disability in young adults. Primary progressive MS (PPMS) constitutes about 10% of cases, and is characterized by a steady decline in function with no acute attacks. The rate of deterioration from disease onset is more rapid than relapsing remitting and secondary progressive MS types. Multiple system involvement at onset and rapid early progression have a worse prognosis. PPMS can cause significant disability and impact on quality of life. Recent studies are biased in favour of relapsing remitting patients as treatment is now available for them and they are more likely to be seen at MS clinics. Since prognosis for PPMS is worse than other types of MS, the focus of rehabilitation is on managing disability and enhancing participation, and application of a “neuropalliative” approach as the disease progresses. This chapter presents the symptomatic treatment and rehabilitation for persons with MS, including PPMS. A multidisciplinary approach optimizes the intermediate and long-term medical, psychological and social outcomes in this population. Restoration and maintenance of functional independence and societal reintegration, and issues relating to quality of life are addressed in rehabilitation processes. PMID:22013521

  20. [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. PMID:25732943

  1. Medications Are Associated with Falls in People with Multiple Sclerosis

    PubMed Central

    Karstens, Lisa; Hoang, Phu; Bourdette, Dennis; Lord, Stephen

    2015-01-01

    Background: Medication use is associated with falls in many populations, but the relationship between medications and falls in people with multiple sclerosis (MS) is not well understood. Methods: The number and types of medications used by 248 ambulatory adults with MS in the United States (n = 53) and Australia (n = 195) were assessed. Participants completed fall diaries for 6 months. Associations between number and type of medications reported and falls, adjusting for age, disease severity, comorbidities, sex, and country, were evaluated using multiple logistic regression. Results: Participants reported taking a median of three medications and two supplements. A total of 143 participants (58%) fell at least once in the 6 months, and 110 (44%) experienced one or more injurious falls. The adjusted relative odds of a fall or an injurious fall increased by 13% (P = .048) and 11% (P = .049), respectively, for each medication and by 43% (P = .015) and 55% (P = .001) for each neurologically active medication. Reported use of MS disease-modifying therapy was associated with 48% decreased odds of falling (P = .035) but not significantly decreased odds of injurious falls. Conclusions: Reporting use of more medications and more neurologically active medications is associated with falls and injurious falls in people with MS. Close evaluation of the need for each medication, with associated minimization of neurologically active medications in patients with MS, may help prevent falls. Use of MS disease-modifying therapies may be associated with fewer falls. This relationship needs further evaluation. PMID:26472941

  2. Dysregulated axonal RNA translation in amyotrophic lateral sclerosis.

    PubMed

    Yasuda, Kyota; Mili, Stavroula

    2016-09-01

    Amyotrophic lateral sclerosis (ALS) is an adult-onset motor neuron disease that has been associated with a diverse array of genetic changes. Prominent among these are mutations in RNA-binding proteins (RBPs) or repeat expansions that give rise to toxic RNA species. RBPs are additionally central components of pathologic aggregates that constitute a disease hallmark, suggesting that dysregulation of RNA metabolism underlies disease progression. In the context of neuronal physiology, transport of RNAs and localized RNA translation in axons are fundamental to neuronal survival and function. Several lines of evidence suggest that axonal RNA translation is a central process perturbed by various pathogenic events associated with ALS. Dysregulated translation of specific RNA groups could underlie feedback effects that connect and reinforce disease manifestations. Among such candidates are RNAs encoding proteins involved in the regulation of microtubule dynamics. Further understanding of axonally dysregulated RNA targets and of the feedback mechanisms they induce could provide useful therapeutic insights. WIREs RNA 2016, 7:589-603. doi: 10.1002/wrna.1352 For further resources related to this article, please visit the WIREs website. PMID:27038103

  3. 99mTc-MIBI radio-guided minimally invasive parathyroidectomy: experience with patients with normal thyroids and nodular goiters.

    PubMed

    Casara, Dario; Rubello, Domenico; Cauzzo, Cristina; Pelizzo, Maria Rosa

    2002-01-01

    The surgical approach to primary hyperparathyroidism (HPT) is changing. In patients with a high probability to be affected by a solitary parathyroid adenoma (PA), a unilateral neck exploration (UNE) or a minimally invasive radio-guided surgery (MIRS) using the intraoperative gamma probe (IGP) technique have recently been proposed. We investigated the role of IGP in a group of 84 patients with primary HPT who were homogeneously evaluated before surgery by a single-day imaging protocol including 99mTcO4/MIBI subtraction scan and neck ultrasound (US) and then operated on by the same surgical team. Quick parathyroid hormone (QPTH) was intraoperatively measured in all cases to confirm successful parathyroidectomy. In 70 patients with scan/US evidence of a single enlarged parathyroid gland (EPG) and with a normal thyroid gland, MIRS was planned. In the other 14 patients, the IGP technique was utilized during a standard bilateral neck exploration (BNE) because of the presence of concomitant nodular goiter (11 cases) or multiglandular disease (MGD) (3 cases). The IGP technique consisted of the following: (1) in the operating room, a low 99mTc-MIBI dose (37 MBq) was injected intravenously during anesthesia induction; (2) subsequently, the patient's neck was scanned with the probe by the surgeon to localize the cutaneous projection of the EPG; (3) in patients who underwent MIRS, the EPG was detected intraoperatively with the probe and removed through a small, 2 to 2.5 cm skin incision; (4) radioactivity was measured on the EPG both in vivo and ex vivo, the thyroid, the background and the parathyroid bed after EPG removal. In patients with concomitant nodular goiter, the radioactivity was also measured on the thyroid nodules. Surgical and pathologic findings were consistent with a single PA in 78 patients, parathyroid carcinoma in 2, and MGD in 4. MIRS was successfully performed in 67 of the 70 patients (97.7%) in whom this approach was planned. It must be pointed out that

  4. 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.

  5. 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…

  6. 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…

  7. Tuberous Sclerosis Complex: A Roadmap for Future Research.

    PubMed

    Jeong, Anna

    2016-07-01

    Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state of TSC research and to set future goals. PMID:27617567

  8. Neuroepileptic Correlates of Autistic Symptomatology in Tuberous Sclerosis

    ERIC Educational Resources Information Center

    Bolton, Patrick F.

    2004-01-01

    Tuberous sclerosis is a genetic condition that is strongly associated with the development of an autism spectrum disorder. However, there is marked variability in expression, and only a subset of children with tuberous sclerosis develop autism spectrum disorder. Clarification of the mechanisms that underlie the association and variability in…

  9. Temporal lobe lesions and psychosis in multiple sclerosis

    PubMed Central

    Yadav, R; Zigmond, A S

    2010-01-01

    Lesions in the temporal lobe are associated with psychiatric manifestations in multiple sclerosis. The authors describe this case of a young man with multiple sclerosis who presented with first-episode psychosis and had acute lesions in the temporal lobe. He was successfully treated with olanzapine and β-interferon. PMID:22789690

  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. [Seizure and Bourneville tuberous sclerosis: think about insulinoma].

    PubMed

    Le Berre, J-P; Bey Boeglin, M; Duverger, V; Garcia, C; Bordier, L; Dupuy, O; Mayaudon, H; Bauduceau, B

    2009-02-01

    Bourneville tuberous sclerosis is a phacomatosis characterized by skin, neurological and ophthalmological lesions. At first, seizure can reveal cerebral lesions, but other causes may be suspected. We report a case of a Bourneville tuberous sclerosis in a 41-year-old-man with hypoglycemia leading to seizures, resulting from an insulinoma. PMID:18539363

  12. 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

  13. 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

  14. 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. PMID:26496907

  15. [The role of vitamin D in multiple sclerosis].

    PubMed

    Kfoczyńska, Medea; Kucharska, Alicja; Sińska, Beata

    2015-01-01

    Multiple sclerosis is a chronic, inflammatory, demyelinating disease which affects the central nervous system and is linked to autoimmune disorders. Although the precise causes of multiple sclerosis remain unknown, some evidence points towards hypovitaminosis D. Apart from the maintenance of calcium and phosphorus homeostasis, vitamin D also plays a major role in other aspects of human health. It is caused by the vitamin D receptor, which is present in many human organs and tissues. Vitamin D is an immunomodulating factor and accordingly has a potential to be effective in both preventing and treating autoimmune diseases, including multiple sclerosis. The aim of this review was to present up-to-date knowledge about vitamin D, especially its impact on risk of multiple sclerosis onset, relapses, and potential to modify the immune response. A further objective was to describe the role of vitamin D supplementation and its provision in the everyday diet for both prevention and treatment of multiple sclerosis. PMID:25897104

  16. 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. PMID:27065461

  17. "Disease modifying nutricals" for multiple sclerosis.

    PubMed

    Schmitz, Katja; Barthelmes, Julia; Stolz, Leonie; Beyer, Susanne; Diehl, Olaf; Tegeder, Irmgard

    2015-04-01

    The association between vitamin D and multiple sclerosis has (re)-opened new interest in nutrition and natural compounds in the prevention and treatment of this neuroinflammatory disease. The dietary amount and type of fat, probiotics and biologicals, salmon proteoglycans, phytoestrogens and protease inhibitor of soy, sodium chloride and trace elements, and fat soluble vitamins including D, A and E were all considered as disease-modifying nutraceuticals. Studies in experimental autoimmune encephalomyelitis mice suggest that poly-unsaturated fatty acids and their 'inflammation-resolving' metabolites and the gut microflora may reduce auto-aggressive immune cells and reduce progression or risk of relapse, and infection with whipworm eggs may positively change the gut-brain communication. Encouraged by the recent interest in multiple sclerosis-nutrition nature's pharmacy has been searched for novel compounds with anti-inflammatory, immune-modifying and antioxidative properties, the most interesting being the scorpion toxins that inhibit specific potassium channels of T cells and antioxidative compounds including the green tea flavonoid epigallocatechin-3-gallate, curcumin and the mustard oil glycoside from e.g. broccoli and sulforaphane. They mostly also inhibit pro-inflammatory signaling through NF-κB or toll-like receptors and stabilize the blood brain barrier. Disease modifying functions may also complement analgesic and anti-spastic effects of cannabis, its constituents, and of 'endocannabinoid enhancing' drugs or nutricals like inhibitors of fatty acid amide hydrolase. Nutricals will not solve multiple sclerosis therapeutic challenges but possibly support pharmacological interventions or unearth novel structures. PMID:25435020

  18. 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

  19. Quantifying Disease Progression in Amyotrophic Lateral Sclerosis

    PubMed Central

    Simon, Neil G; Turner, Martin R; Vucic, Steve; Al-Chalabi, Ammar; Shefner, Jeremy; Lomen-Hoerth, Catherine; Kiernan, Matthew C

    2014-01-01

    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. PMID:25223628

  20. Improving reporting of multiple sclerosis relapse.

    PubMed

    Roberts, Megan; Lush, Tessa; Pohorely, John

    Many people with multiple sclerosis do not report a relapse. When it is reported, it is not always recorded in their notes. This can mean patients do not always have the most appropriate treatment. This article reviews some of the reasons why relapse reports are lacking and how the problem could be addressed. As a result, the decision was made to develop an app that patients could use to record their symptoms and wellbeing over time, to help identify and record relapses. Information could then be passed to their health professional via email, if desired. PMID:26775329

  1. MRI differential diagnosis of suspected multiple sclerosis.

    PubMed

    Chen, J J; Carletti, F; Young, V; Mckean, D; Quaghebeur, G

    2016-09-01

    Diagnosing multiple sclerosis (MS) can be very challenging owing to its variable clinical features and lack of a definitive test. Magnetic resonance imaging (MRI) is a core diagnostic tool in the detection of MS lesions and demonstration of spatial and temporal distribution of disease. Moreover, MRI plays a crucial role in the exclusion of alternative diagnoses of MS. The aim of this review is to describe the typical MRI features of MS and to present a series of common mimics of MS with emphasis on their distinguishing features from MS. PMID:27349475

  2. [Update on Current Care Guideline: Multiple sclerosis].

    PubMed

    Remes, Anne; Airas, Laura; Atula, Sari; Färkkilä, Markus; Hartikainen, Päivi; Koivisto, Keijo; Mäenpää, Eliisa; Ruutiainen, Juhani; Sumelahti, Marja-Liisa

    2015-01-01

    Treatment for relapsing-remitting multiple sclerosis (RRMS) is initiated upon fulfillment of new McDonald 2010 criteria for RRMS. In addition, lumbar puncture is an essential diagnostic method. Interferon-β, dimethyl fumarate, glatiramer acetate and teriflunomide are the first-line immunomodulating drugs (IMD) for RRMS. If the disease is active according to clinical or MRI evaluation during the first-line IMD treatment, alemtuzumab, fingolimod or natalizumab may be considered as second-line therapies. IMD treatment is discontinued upon the transition of RRMS to secondary progressive phase. Rehabilitation should be considered at every phase of the disease. PMID:26237913

  3. Ultraviolet radiation, vitamin D and multiple sclerosis.

    PubMed

    Lucas, Robyn M; Byrne, Scott N; Correale, Jorge; Ilschner, Susanne; Hart, Prue H

    2015-10-01

    There is compelling epidemiological evidence that the risk of developing multiple sclerosis is increased in association with low levels of sun exposure, possibly because this is associated with low vitamin D status. Recent work highlights both vitamin D and non-vitamin D effects on cellular immunity that suggests that higher levels of sun exposure and/or vitamin D status are beneficial for both MS risk and in ameliorating disease progression. Here we review this recent evidence, focusing on regulatory cells, dendritic cells, and chemokines and cytokines released from the skin following exposure to ultraviolet radiation. PMID:26477548

  4. Developing a community multiple sclerosis nursing service.

    PubMed

    Quinn, Debbie; Adams, John

    2014-05-20

    Reforms to the NHS following the passing of the Health and Social Care Act 2012 have created new purchaser organisations with responsibility for planning the configuration of healthcare services in their geographic areas. If a community multiple sclerosis (MS) nursing service is to survive in this environment, it must demonstrate its ability to contribute to achieving the purchaser organisations' objectives. Evaluation data, such as hospital admission avoidance and patient satisfaction, will be crucial in demonstrating the community MS nursing service's clinical and economic effectiveness. A strengths, weaknesses, opportunities and threats (SWOT) analysis of the issues facing a community MS service in this environment is provided. PMID:24823591

  5. [Dissociated sensory loss syndrome in multiple sclerosis].

    PubMed

    Peres Serra, J; Martínez Yélamos, S; Ballabriga Planas, J; Basart Tarrats, E; Arbizu Urdiain, T

    1994-01-01

    Spatial and temporal dissemination of demyelinating lesions continue to provide the basis for diagnosing multiple sclerosis (MS). We describe 20 patients (from a series of 234 with MS) who experienced flare-ups consistent with sensory suspension syndrome (SSS). The presence of syringomyelic cavities (non communicating syringomyelia) was ruled out by nuclear magnetic resonance imaging (NMR). We discuss the possible locations of lesions responsible for this syndrome: the trigeminus, dorsal root entry zones, anterior medullary white matter, and the mid-lateral portion of the spinothalamic tract. MS should be included as a differential diagnosis in young patients presenting with SSS. PMID:8086185

  6. Multiple sclerosis with caudate lesions on MRI.

    PubMed

    Hashiguchi, S; Ogasawara, N; Mine, H; Kawachi, Y

    2001-04-01

    A 31-year-old woman displayed sleepiness and impairment of recent memory. T2-weighted MRI revealed high signal intensity lesions in the bilateral basal ganglia, thalamus, and brainstem. Although remission was achieved with corticosteroid therapy, she again displayed memory dysfunction and emotional disturbance one year later, at which time MRI disclosed new lesions in the right caudate nucleus and left frontal white matter. Corticosteroid therapy lead to improvement, and she suffered no recurrence on maintenance steroid therapy. These findings suggest that caudate lesions do occur in multiple sclerosis, the manifestations of which can be abulia and memory dysfunction, as in the present case. PMID:11334400

  7. 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

  8. Systemic Sclerosis with Multiple Pulmonary Manifestations

    PubMed Central

    Suresh, Parinita; Reddy, Venkata Siva Prasad; Sharma, Tarun; Salim, Nabil Ahmed

    2016-01-01

    Systemic sclerosis (SSc) is a chronic autoimmune multisystem disorder characterized by endothelial dysfunction and fibroblast dysfunction, which results in progressive fibrosis of the skin and internal organs more frequently the lungs and gastro intestinal tract. Pulmonary involvement is common in the course of SSc, with Interstitial Lung Disease (ILD) and Pulmonary Arterial Hypertension (PAH) being the leading causes of death. Here we report, case of an elderly female patient presenting with Diffuse SSc with multiple uncommon pulmonary manifestations like ILD with Usual Interstitial Pneumonia (UIP) pattern (usually less common), PAH and right sided pleural effusion. PMID:27504339

  9. 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.

  10. Advanced-stage nodular lymphocyte predominant Hodgkin lymphoma compared with classical Hodgkin lymphoma: a matched pair outcome analysis.

    PubMed

    Xing, Katharine H; Connors, Joseph M; Lai, Anky; Al-Mansour, Mubarak; Sehn, Laurie H; Villa, Diego; Klasa, Richard; Shenkier, Tamara; Gascoyne, Randy D; Skinnider, Brian; Savage, Kerry J

    2014-06-01

    Due to disease rarity, there is limited information regarding the optimal therapy and outcome for patients with advanced-stage nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL). Forty-two patients with NLPHL by the Revised European-American Lymphoma/World Health Organization classification with advanced-stage disease were identified and paired 1:2 with a matched control with classical Hodgkin lymphoma (CHL) matched by age, gender, stage, decade of diagnosis, and treatment received. The median follow-up was 11.3 years (range, 1.9 to 35.5 years) for NLPHL patients and 10.7 years (range, 1.6 to 26.3 years) for CHL patients. The majority received doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD)-like chemotherapy. Although the 10-year overall survival (OS) (P = .579) and HL freedom from treatment failure (HL-FFTF) were similar between NLPHL and CHL patients (75% vs 73%; P = .610), the time to progression (TTP), which also includes the development of secondary aggressive lymphoma, was inferior in NLPHL (10-year, 63% vs 73%; P = .040). Splenic involvement was associated with an inferior 10-year TTP in patients treated with ABVD (48% vs 71%; P = .049) and an increased cumulative incidence of secondary aggressive lymphoma (P = .014) providing a rationale for further evaluation of cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) with rituximab in NLPHL. PMID:24713929

  11. Molecular detection of avian pox virus from nodular skin and mucosal fibrinonecrotic lesions of Iranian backyard poultry.

    PubMed

    Gholami-Ahangaran, Majid; Zia-Jahromi, Noosha; Namjoo, Abdolrasul

    2014-02-01

    In recent years, some outbreaks of skin lesions suspected to be avian pox were observed in the backyard poultry in different parts of western areas in Iran. Consequently, 328 backyard poultries with suspected signs of avian pox virus infection were sampled. All birds showed nodular lesions on unfeathered head skin and/or fibronecrotic lesions on mucus membrane of the oral cavity and upper respiratory tract. For histopathological analysis, the sections of tissue samples from cutaneous lesions of examined birds were stained with H&E method. For PCR, after DNA extraction a 578-bp fragment of avian pox virus from 4b core protein gene was amplified. Results showed 217 and 265 out of 328 (66.1 and 80.7%, respectively) samples were positive for avian pox virus on histopathological and PCR examination, respectively. In this study, the samples that had intracytoplasmic inclusion bodies on pathologic examination were PCR positive. This study revealed that PCR is a valuable tool for identification of an avian pox virus and that the frequency of pox infection in backyard poultry in western areas of Iran is high. PMID:24202734

  12. Sclerosing angiomatoid nodular transformation (SANT) of the spleen: a case report with FDG-PET findings and literature review

    PubMed Central

    Imamura, Yumi; Hatta, Kazuha; Seshimo, Akiyoshi; Sawada, Tatsuo; Abe, Koichiro; Sakai, Shuji

    2016-01-01

    We report the 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) findings of sclerosing angiomatoid nodular transformation (SANT) of the spleen. The patient was a 37-year-old woman with a splenic mass incidentally found on abdominal ultrasound. FDG-PET/CT showed weak FDG accumulation (maximum standardized uptake value = 3.65). An unenhanced CT scan showed a low density and well-circumscribed splenic tumor that demonstrated weak enhancement from the arterial to delayed phase. Although hemangioma or hamartoma of the spleen was preoperatively diagnosed, histopathological examination revealed SANT. Therefore, when a splenic tumor with weak contrast medium enhancement and low FDG accumulation is observed, SANT should be considered as a differential diagnosis. Although CT and magnetic resonance imaging features of SANT have been reported, there are few reports on FDG-PET/CT findings. We report the radiological features of SANT, including FDG-PET/CT, and review the literature on SANT. PMID:27570634

  13. Sclerosing angiomatoid nodular transformation (SANT) of the spleen: a case report with FDG-PET findings and literature review.

    PubMed

    Imamura, Yumi; Nakajima, Reiko; Hatta, Kazuha; Seshimo, Akiyoshi; Sawada, Tatsuo; Abe, Koichiro; Sakai, Shuji

    2016-08-01

    We report the 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) findings of sclerosing angiomatoid nodular transformation (SANT) of the spleen. The patient was a 37-year-old woman with a splenic mass incidentally found on abdominal ultrasound. FDG-PET/CT showed weak FDG accumulation (maximum standardized uptake value = 3.65). An unenhanced CT scan showed a low density and well-circumscribed splenic tumor that demonstrated weak enhancement from the arterial to delayed phase. Although hemangioma or hamartoma of the spleen was preoperatively diagnosed, histopathological examination revealed SANT. Therefore, when a splenic tumor with weak contrast medium enhancement and low FDG accumulation is observed, SANT should be considered as a differential diagnosis. Although CT and magnetic resonance imaging features of SANT have been reported, there are few reports on FDG-PET/CT findings. We report the radiological features of SANT, including FDG-PET/CT, and review the literature on SANT. PMID:27570634

  14. Investigation of fracture mechanical behavior of nodular cast iron and welded joints with parent-material-like weld metal

    SciTech Connect

    Baer, W.; Pusch, G.

    1995-12-31

    The focus of the investigations was the determination of fracture mechanical characteristics and crack resistance curves of the J-Integral and CTOD concept by application of the partial unloading compliance technique and D.C. potential drop technique (four point bend) under static load. The results show a close correlation between crack initiation values as well as crack resistance curves and graphite morphology parameters determined by means of quantitative microstructural analysis where the influence of the matrix (distance of graphite particles) dominates the crack resistance and fracture performance of ferritic nodular cast iron under consideration of the notch effect of graphite particles. SEM in-situ tensile tests showed that due to a beneficial shielding effect of the strength overmatching parent-material-like weld metal (mis-match ratio M = 1.21), cracks positioned directly in the plane of the fusion line did not deviate into the weld metal in spite of its lower toughness compared to that of the parent material. They also showed an unsymmetrical formation of damage in front of the crack tip.

  15. 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

  16. Focal Nodular Hyperplasia and Hepatocellular Adenoma around the World Viewed through the Scope of the Immunopathological Classification

    PubMed Central

    Al-Rabih, Wesal R.; Chen, Pei-Jer; Evason, Kimberley; Ferrell, Linda; Hernandez-Prera, Juan C.; Huang, Shiu-Feng; Longerich, Thomas; Park, Young Nyun; Quaglia, Alberto; Schirmacher, Peter; Sempoux, Christine; Thung, Swan N.; Torbenson, Michael; Wee, Aileen; Yeh, Matthew M.; Yeh, Shiou-Hwei; Le Bail, Brigitte; Zucman-Rossi, Jessica; Bioulac-Sage, Paulette

    2013-01-01

    Focal nodular hyperplasia (FNH) and hepatocellular adenoma (HCA) are benign hepatocellular tumors. The risk of bleeding and malignant transformation of HCA are strong arguments to differentiate HCA from FNH. Despite great progress that has been made in the differential radiological diagnosis of the 2 types of nodules, liver biopsy is sometimes necessary to separate the 2 entities. Identification of HCA subtypes using immunohistochemical techniques, namely, HNF1A-inactivated HCA (35–40%), inflammatory HCA (IHCA), and beta-catenin-mutated inflammatory HCA (b-IHCA) (50–55%), beta-catenin-activated HCA (5–10%), and unclassified HCA (10%) has greatly improved the diagnostic accuracy of benign hepatocellular nodules. If HCA malignant transformation occurs in all HCA subgroups, the risk is by far the highest in the β-catenin-mutated subgroups (b-HCA, b-IHCA). In the coming decade the management of HCA will be more dependent on the identification of HCA subtypes, particularly for smaller nodules (<5 cm) in terms of imaging, follow-up, and resection. PMID:23691331

  17. Giant focal nodular hyperplasia determining Budd-Chiari syndrome: an operative challenge requiring 210 min of liver ischemia.

    PubMed

    Giuliante, Felice; Ardito, Francesco; Ranucci, Giuseppina; Giovannini, Ivo; Nuzzo, Gennaro

    2011-12-01

    Focal nodular hyperplasia (FNH) is a relatively common benign liver tumor with rare indications to surgery. Early after pregnancy, a 35-year-old woman developed right upper quadrant abdominal pain with fever. A large abdominal mass was palpable. Abdominal CT scan showed a 18-cm FNH substituting all liver segments but S6 and S7, compressing middle and left hepatic vein near their origin, displacing and compressing right hepatic vein, with ascites. Surgery consisted of a left hepatectomy extended to S5-S8 and S1. Main technical challenge was the preservation of the right hepatic vein. Intermittent pedicle clamping was performed, associated with hepatic vascular exclusion with preservation of caval flow; total duration of ischemia was 210 min. The postoperative course was uneventful, except for a transient fall in prothrombin time, and the formation of a sub-diaphragmatic serous collection, which was percutaneously drained. The patient is well 25 months after the operation. To our knowledge, this is the second reported case requiring surgery for a FNH causing a Budd-Chiari syndrome. In these peculiar cases a cumbersome operation may be required, maximizing all precautions to perform a risk-free procedure. PMID:21922317

  18. 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

  19. Is there a pulse wave encephalopathy component to multiple sclerosis?

    PubMed

    Juurlink, Bernhard H J

    2015-01-01

    The dominant hypothesis in multiple sclerosis is that it is an autoimmune disease; however, there is considerable evidence that the immune attack on myelin may be secondary to a cytodegenerative event. Furthermore, the immune modulating therapies longest in clinical use, although modulating the frequency and severity of exacerbation, do not affect long-term progression towards disability. Clearly alternative perspectives on the etiology of multiple sclerosis are warranted. In this paper I outline the commonalities between idiopathic normal pressure hydrocephalus and multiple sclerosis. These include decreased intracranial compliance as evidenced by increased cerebrospinal fluid volume and velocity of cerebrospinal fluid flow through the cerebral aqueduct; increased ventricular volume; periventricular demyelination lesions; increase in size of Virchow-Robin spaces; presence of Hakim's triad comprised of locomotory disabilities, cognitive problems and bladder control problems. Furthermore, multiple sclerosis is associated with decreased arterial compliance. These are all suggestive that there is a pulse wave encephalopathy component to multiple sclerosis. There are enough resemblances between normal pressure hydrocephalus and multiple sclerosis to warrant further investigation. Whether decreases in intracranial compliance is a consequence of multiple sclerosis or is a causal factor is unknown. Effective therapies can only be developed when the etiology of the disease is understood. PMID:25760216

  20. The cost of multiple sclerosis in Norway.

    PubMed

    Svendsen, B; Myhr, K-M; Nyland, H; Aarseth, J H

    2012-02-01

    Health economic aspects have been increasingly important during introduction of new treatments for multiple sclerosis. As a partial response for Norway, a cost-of-illness study was carried out to estimate the yearly cost of the illness to society and relate costs and patients' quality of life to illness severity. Estimated cost to society was Euro 439 million in 2002 exclusive of the cost of reduced quality of life. The cost per patient was close to Euro 65,000. Account taken of methodological differences, the results compare to results for Sweden, Norway's closest neighboring country. The illness reduced patients' quality of life with 0.26. More patients were early retired because of their MS in Norway than in any of nine other European countries comprised by a recent European study, illustrating a liberal practice in Norway. The Norwegian cost of unpaid assistance was almost identical to the Swedish cost that was the lowest found across the countries in the European study. When related to illness severity, the cost per patient increased, and the patients' experienced quality of life decreased with increasing EDSS levels in line with what has been found for other countries. Cost-of-MS studies have been carried out for a number of countries. Together they contribute to our understanding of the economic consequences of multiple sclerosis and, if their results are related to illness severity, also provide valuable information for further economic analyses of treatment and medication. Our study adds to this. PMID:21080024

  1. Job satisfaction among multiple sclerosis certified nurses.

    PubMed

    Gulick, Elsie E; Halper, June; Costello, Kathleen

    2007-08-01

    Several studies document high levels of job satisfaction among certified nurses, but no study has examined job satisfaction and factors influencing job satisfaction of certified multiple sclerosis (MS) nurses. This study tested a theoretical model proposing that two organizational factors, colleague relationships and benefits, will predict job satisfaction. Job satisfaction was represented by four factors: autonomy, professional status, professional growth, and time efficiency. Participants included MS nurses certified for 6 months or more practicing mostly in three countries (Canada, Great Britain, and the United States) who anonymously completed the Misener Nurse Practitioner Job Satisfaction Scale, an overall job satisfaction rating, and demographic information. Findings indicate that colleague relationships and benefits significantly estimated organization structure and that autonomy, professional status, professional growth, and time efficiency significantly estimated job satisfaction; furthermore, organization factors such as colleague relationships and benefits significantly predict job satisfaction. Among the countries, several statistically significant differences were observed between job satisfaction factors as well as items in both organization and job satisfaction subscales. Average factor scores among the countries were mostly rated satisfactory. The International Organization of Multiple Sclerosis Nurses Executive Board plans to use the study findings to see how it needs to focus efforts as an organization toward enhancing and standardizing MS care and develop MS nurse professionalism worldwide. PMID:17847673

  2. Update on treatments in multiple sclerosis.

    PubMed

    Michel, Laure; Larochelle, Catherine; Prat, Alexandre

    2015-04-01

    While there is no cure for multiple sclerosis (MS), numerous disease-modifying drugs are now available to treat MS patients. In fact, the therapeutic strategies are now more and more complex, directly impacting the management of patients. Despite the good safety profile of the first-line immunomodulatory drugs, the clinical response is often suboptimal. Important questions remain about the right timing to switch for a second-line agent and whether escalation therapy is an appropriate therapeutic strategy. In this review, we conducted a systematic search by PubMed using the terms: treatment, multiple sclerosis, therapeutic, DMT and treatment response. Randomized trials and reviews addressing MS, DMTs and management strategies were selected and included in this review. Herein, we present the currently approved and emerging drugs used for the treatment of MS with their relative benefit/risk profiles, and their respective positions in the therapeutic arsenal. We then focused on the different therapeutic strategies and criteria available to evaluate the response to disease-modifying therapies (DMTs). PMID:25813102

  3. [Spatial contrast sensitivity in multiple sclerosis].

    PubMed

    Vighetto, A; Grochowicki, M; Cousin, J

    1990-01-01

    Spatial contrast sensitivity was measured in 110 patients with multiple sclerosis (definite = 72, probable = 22, possible = 16) as part of a routine evaluation in a neuro-ophthalmological clinic. Results were compared with those of 37 normal controls matched for age. The test was abnormal in 71 p. 100 of patients. Contrast sensitivity was attenuated for 97 p. 100 of the eyes with optic neuritis and visual acuity drop, for 60 p. 100 of the eyes with recovered optic neuritis and for 36 p. 100 of the non affected eyes in the cases of unilateral optic neuritis. Among the 57 patients with normal visual acuity and no history of optic neuritis, 62 p. 100 had abnormal findings. Globally, contrast sensitivity was reduced on the whole spatial frequency range in cases of current optic neuritis, and mostly on the high or high and medium frequencies in the other cases. Our study confirms that spatial contrast sensitivity is the most sensitive of psychophysical methods to detect subclinical visual impairement in multiple sclerosis. Comparison with VEP's was performed in 66 patients. Both tests were roughly equally sensitive, but findings were concordant in only 63 p. 100 of the cases. The use of both VEP's and spatial contrast sensitivity increases the detection of latent optic neuritis. PMID:2359900

  4. Update on rehabilitation in multiple sclerosis.

    PubMed

    Donzé, Cécile

    2015-04-01

    Given that mobility impairment is a hallmark of multiple sclerosis, people with this disease are likely to benefit from rehabilitation therapy throughout the course of their illness. The review provides an update on rehabilitation focused on balance and walking impairment. Classical rehabilitation focusing on muscle rehabilitation, neurotherapeutic facilitation is effective and recommended. Other techniques did not prove their superiority: transcutaneal neurostimulation, repetitive magnetic stimulation, electromagnetic therapy, whole body vibration and robot-assisted gait rehabilitation and need more studies to conclude. Cooling therapy, hydrotherapy, orthoses and textured insoles could represent a complementary service to other techniques in specific conditions. Multidisciplinary rehabilitation program provides positive effects and high satisfaction for patients with multiple sclerosis but needs more evaluation. New technologies using serious game and telerehabilitation seem to be an interesting technique to promote physical activity, self-management and quality of life. Rehabilitation like other therapy needs regular clinical evaluation to adapt the program and propose appropriate techniques. Moreover, the objective of rehabilitation needs to be decided with the patient with realistic expectation. PMID:25746432

  5. The present efficacy of multiple sclerosis therapeutics

    PubMed Central

    Klawiter, Eric C.; Cross, Anne H.; Naismith, Robert T.

    2009-01-01

    A challenge for the clinician treating patients with multiple sclerosis (MS) is to determine the most effective treatment while weighing the benefits and risks. Results of the phase 2 and phase 3 studies on natalizumab were received with great interest, in part due to the “improved” risk reduction for relapse rate, disease progression, and MRI metrics observed in comparison to results in trials of beta-interferon and glatiramer acetate. However, comparison across trials is invalid, in large part due to differences in the study populations. The increased efficacy observed in more recent trials has also been attributed to a fundamental change in subjects with MS enrolled in recent trials compared with the prior decade. In this article, we debate the relative efficacy of natalizumab vs the older injectable therapies. GLOSSARY ARR = absolute risk reduction; CIS = clinically isolated syndrome; DMT = disease-modulating therapy; EDSS = Expanded Disability Status Scale; FDA = Food and Drug Administration; GA = glatiramer acetate; IFN = interferon; MS = multiple sclerosis; NNT = number needed to treat; PML = progressive multifocal leukoencephalopathy; RRMS = relapsing-remitting MS; RRR = relative risk reduction. PMID:19770475

  6. Supporting work for people with multiple sclerosis.

    PubMed

    Doogan, Catherine; Playford, E Diane

    2014-05-01

    People with multiple sclerosis experience some of the highest rates of unemployment among groups of individuals with severe and chronic disabilities. While unpredictable relapses, physical and cognitive symptoms all may play a role in job loss, it is more likely that job loss can be attributed to a complex interaction between disease-related factors and contextual factors, such as the working environment, and employer attitudes. This interaction leads to the concept of work instability, that is, the mismatch between work demands and the individual's capacity to meet these demands. Vocational rehabilitation services aim to provide people with multiple sclerosis vocational assessment, rehabilitation and support to enable them to find, regain or remain in work and access other occupational and educational opportunities. Such services consist of a multidisciplinary team with the ability to provide education around disclosure, and work-place accommodations, offer emotional support, maintain work performance, liaise with employers, and support to re-enter the workplace. Helpful interventions include early disclosure, proper workplace accommodation, education of employers, and government-funded initiatives to support disabled employees. Future research needs to agree on methods of recording outcomes and evaluate specific vocational rehabilitation interventions. PMID:24526662

  7. Pregnancy in Multiple Sclerosis: A Questionnaire Study

    PubMed Central

    Borisow, Nadja; Paul, Friedemann; Ohlraun, Stephanie; Pach, Daniel; Fischer, Felix; Dörr, Jan

    2014-01-01

    Background Multiple sclerosis (MS) preferentially affects females at childbearing age. For this reason patients and treating physicians were frequently confronted with questions concerning family planning, pregnancy and birth. Objective The aim of this study was to evaluate the expertise about pregnancy related topics in multiple sclerosis of neurologists in private practice. Methods We developed a survey with 16 multiple choice questions about pregnancy related topics and sent it to neurologists in private practice in Berlin, Germany. Results 56 completed questionnaires were sent back. 54% of all questions were answered correctly, 21% of the questions were answered with “I don’t know”. Correct answers were more often given by physicians who treat more than 400 MS patients per year (p = 0.001). Further positive associations were found for assumed relevance of the topic (p = 0.002) and the degree of counseling (p<0.001). Conclusion To provide a comprehensive counseling, MS patients with desire for children should be counseled by physicians with a lot of experience in MS treatment. PMID:24901447

  8. 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

  9. Complementary and alternative medicine for multiple sclerosis.

    PubMed

    Schwarz, S; Knorr, C; Geiger, H; Flachenecker, P

    2008-09-01

    We analyzed characteristics, motivation, and effectiveness of complementary and alternative medicine in a large sample of people with multiple sclerosis. A 53-item survey was mailed to the members of the German Multiple Sclerosis Society, chapter of Baden-Wuerttemberg. Surveys of 1573 patients (48.5 +/- 11.7 years, 74% women, duration of illness 18.1 +/- 10.5 years) were analyzed. In comparison with conventional medicine, more patients displayed a positive attitude toward complementary and alternative medicine (44% vs 38%, P < 0.05), with 70% reporting lifetime use of at least one method. Among a wide variety of complementary and alternative medicine, diet modification (41%), Omega-3 fatty acids (37%), removal of amalgam fillings (28%), vitamins E (28%), B (36%), and C (28%), homeopathy (26%), and selenium (24%) were cited most frequently. Most respondents (69%) were satisfied with the effects of complementary and alternative medicine. Use of complementary and alternative medicine was associated with religiosity, functional independence, female sex, white-collar job, and higher education (P < 0.05). Compared with conventional therapies, complementary and alternative medicine rarely showed unwanted side effects (9% vs 59%, P < 0.00001). A total of 52% stated that the initial consultation with their physician lasted less than 15 min. To conclude, main reasons for the use of complementary and alternative medicine include the high rate of side effects and low levels of satisfaction with conventional treatments and brief patients/physicians contacts. PMID:18632773

  10. Update on immunopathogenesis and immunotherapy in multiple sclerosis

    PubMed Central

    Selter, Rebecca C; Hemmer, Bernhard

    2013-01-01

    Multiple sclerosis is a chronic inflammatory demyelinating disease of the central nervous system. Both genetic and environmental factors are believed to contribute to the pathogenesis of the disease. Histopathological findings suggest that multiple sclerosis is an immune-mediated disease, involving both the cellular and humoral immune systems. Within the last 20 years, several disease-modifying therapies for the treatment of multiple sclerosis were established. Moreover, promising new substances are currently being tested in clinical trials and will likely broaden the therapeutic opportunities available within the upcoming years.

  11. Neuroactive steroid levels in plasma and cerebrospinal fluid of male multiple sclerosis patients.

    PubMed

    Caruso, Donatella; Melis, Marta; Fenu, Giuseppe; Giatti, Silvia; Romano, Simone; Grimoldi, Maria; Crippa, Donatella; Marrosu, Maria Giovanna; Cavaletti, Guido; Melcangi, Roberto Cosimo

    2014-08-01

    Neuroactive steroid family includes molecules synthesized in peripheral glands (i.e., hormonal steroids) and directly in the nervous system (i.e., neurosteroids) which are key regulators of the nervous function. As already reported in clinical and experimental studies, neurodegenerative diseases affect the levels of neuroactive steroids. However, a careful analysis comparing the levels of these molecules in cerebrospinal fluid (CSF) and in plasma of multiple sclerosis (MS) patients is still missing. To this aim, the levels of neuroactive steroids were evaluated by liquid chromatography-tandem mass spectrometry in CSF and plasma of male adults affected by Relapsing-Remitting MS and compared with those collected in control patients. An increase in pregnenolone and isopregnanolone levels associated with a decrease in progesterone metabolites, dihydroprogesterone, and tetrahydroprogesterone was observed in CSF of MS patients. Moreover, an increase of 5α-androstane-3α,17β-diol and of 17β-estradiol levels associated with a decrease of dihydrotestosterone also occurred. In plasma, an increase in pregnenolone, progesterone, and dihydrotestosterone and a decrease in dihydroprogesterone and tetrahydroprogesterone levels were reported. This study shows for the first time that the levels of several neuroactive steroids, and particularly those of progesterone and testosterone metabolites, are deeply affected in CSF of relapsing-remitting MS male patients. We here demonstrated that, the cerebrospinal fluid and plasma levels of several neuroactive steroids are modified in relapsing remitting multiple sclerosis male patients. Interestingly, we reported for the first time that, the levels of progesterone and testosterone metabolites are deeply affected in cerebrospinal fluid. These findings may have an important relevance in therapeutic and/or diagnostic field of multiple sclerosis. PMID:24766130

  12. 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

  13. Temporal Lobe Sclerosis Associated with Hippocampal Sclerosis in Temporal Lobe Epilepsy: Neuropathological Features

    PubMed Central

    Thom, Maria; Eriksson, Sofia; Martinian, Lillian; Caboclo, Luis O.; McEvoy, Andrew W.; Duncan, John S.; Sisodiya, Sanjay M.

    2009-01-01

    Widespread changes involving neocortical as well as mesial temporal lobe structures can be present in patients with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS). The incidence, pathology and clinical significance of neocortical temporal lobe sclerosis (TLS) are not well characterized. We identified TLS in 30 out of 272 surgically treated cases of HS. TLS was defined by variable reduction of neurons from cortical layers II/III and laminar gliosis; it was typically accompanied by additional architectural abnormalities of layer II, i.e. abnormal neuronal orientation and aggregation. Quantitative analysis including tessellation methods for the distribution of layer II neurons supported these observations. In 40% of cases there was a gradient of TLS with more severe involvement towards the temporal pole, possibly signifying involvement of hippocampal projection pathways. There was a history of a febrile seizure as an initial precipitating injury in 73% of patients with TLS compared to 36% without TLS; no other clinical differences TLS and non-TLS cases were identified. TLS was not evident pre-operatively by neuroimaging. No obvious effect of TLS on seizure outcome was noted after temporal lobe resection; 73% became seizure-free at 2 year follow up. In conclusion, approximately 11% of surgically treated HS is accompanied by TLS. TLS is likely an acquired process with accompanying re-organizational dysplasia and an extension of mesial temporal sclerosis rather than a separate pathological entity. PMID:19606061

  14. Parotid Gland Nodular Fasciitis: A Clinicopathologic Series of 12 Cases with a Review of 18 Cases from the Literature.

    PubMed

    Gibson, Tyler C; Bishop, Justin A; Thompson, Lester D R

    2015-09-01

    Nodular fasciitis (NF), very uncommon in the parotid gland, is a benign myofibroblastic proliferation that may be mistaken for other neoplastic proliferations. The mass-like clinical presentation and histologic features result in frequent misclassification, resulting in inappropriate clinical management. There are only a few reported cases in the English literature. Cases within the files of the authors' institutions (retrospective) confined to the parotid gland were compared to cases reported in the English literature (Medline 1966-2014). The patients included five females and seven males, aged 11-70 years (mean 45.2 years). All patients presented with a mass lesion, present on average 1.9 months, without a documented history of trauma. The lesions were 0.7-5.2 cm (mean 2.2 cm). Seven patients had fine needle aspiration. The majority of the lesions were circumscribed (n = 9), composed of spindle-shaped to stellate myofibroblasts (MF) arranged in a storiform growth pattern, juxtaposed to hypocellular myxoid tissue-culture-like areas with extravasation of erythrocytes. Dense, keloid-like collagen (n = 7) and occasional giant cells were seen (n = 6). Mitotic figures (without atypical forms) were readily identifiable (mean 4/10 HPFs). By immunohistochemical staining, the MF were reactive with vimentin, actins, and calponin, while the histiocytes were reactive with CD68. All patients had surgical excision. One patient developed local recurrence (12 months later). All were alive and disease free at last follow-up, with a mean 133 months of follow-up. The principle differential diagnoses include fibrosarcoma, fibromatosis, pleomorphic adenoma, myoepithelioma, neurofibroma, schwannoma, solitary fibrous tumor, leiomyoma, fibrous histiocytoma and myxoma. NF of the parotid gland occurs in middle-aged patients who present with a mass (mean 2.2 cm) in the parotid gland of short duration (1.9 months). FNA misinterpretation frequently leads to excision. Separation from

  15. High-dose chemotherapy and autologous stem cell transplantation for relapsed or refractory nodular lymphocyte predominant Hodgkin lymphoma.

    PubMed

    Akhtar, S; Elhassan, T A M; Edesa, W; Rauf, M S; Zahir, M N; Maghfoor, I

    2016-01-01

    Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a distinct subtype of Hodgkin lymphoma. We report our results of relapsed/refractory NLPHL patients who received high-dose chemotherapy and autogenic stem cell transplantation (HDC auto-SCT). Seventeen NLPHL patients received HDC auto-SCT (1996–2014): male 14 and female 3, with median age at diagnosis of 22 years, at HDC auto-SCT 28 years (15–58 years). At the time of relapse/progression, 13 (76 %) had NLPHL and 4 (24 %) had transformed diffuse large B cell lymphoma. The reason for HDC auto-SCT was refractory NLPHL in 12 patients and relapsed in 5 patients. Salvage chemotherapy was etoposide, methylprednisolone, cisplatinum, and Ara-C (ESHAP); eight patients also received rituximab with ESHAP. HDC was carmustine, etoposide, cytarabine, and melphalan (BEAM). Post-auto-SCT, complete remission was achieved in 14 (82 %), partial remission in 1 (6 %), and progressive disease in 2 (12 %) patients. The median follow-up is 63 months from auto-SCT (6–124 months). Of the nine patients who received only ESHAP, four had post-auto-SCT events versus no event in all eight patients who received rituximab+ESHAP. Kaplan–Meier estimates of 5-year event-free survival for the whole group is 76 %: rituximab+salvage (100 %) versus salvage alone (56 %), P=0.041. Overall survival is 94 %: 100 versus 89 %, respectively, P=not significant (NS). Even in refractory NLPHL patients, long-term disease-free survival is possible after HDC auto-SCT. Post-auto-SCT relapse or progression can still be managed with chemo/chemo+immunotherapy/ radiation. These encouraging results of rituximab in salvage setting should be explored further in a clinical trial setting for this patient population. PMID:26467917

  16. Risk of Thyroid Nodular Disease and Thyroid Cancer in Patients with Acromegaly – Meta-Analysis and Systematic Review

    PubMed Central

    Wolinski, Kosma; Czarnywojtek, Agata; Ruchala, Marek

    2014-01-01

    Introduction Acromegaly is a quite rare chronic disease caused by the increased secretion of growth hormone (GH) and subsequently insulin - like growth factor 1. Although cardiovascular diseases remains the most common cause of mortality among acromegalic patients, increased prevalence of malignant and benign neoplasms remains a matter of debate. The aim of this study is to evaluate the risk of thyroid nodular disease (TND) and thyroid cancer in patients with acromegaly. Materials and Methods PubMed, Cochrane Library, Scopus, Cinahl, Academic Search Complete, Web of Knowledge, PubMed Central, PubMed Central Canada and Clinical Key databases were searched to identify studies containing. Random–effects model was used to calculate pooled odds ratios and risk ratios of TND in acromegaly. Studies which not included control groups were systematically reviewed. Results TND was more frequent in acromegaly than in control groups (OR = 6.9, RR = 2.1). The pooled prevalence of TND was 59.2%. Also thyroid cancer (TC) proved to be more common in acromegalic patients (OR = 7.5, RR = 7.2), prevalence was 4.3%. The pooled rate of malignancy (calculated per patient) was equal to 8.7%. Conclusions This study confirms that both TND and TC occur significantly more often in acromegalic patients than in general population. These results indicate that periodic thyroid ultrasound examination and careful evaluation of eventual lesions should be an important part of follow-up of patients with acromegaly. PMID:24551163

  17. Expression of PCA3 and PSA genes as a biomarker for differential diagnosis of nodular hyperplasia and prostate cancer.

    PubMed

    Coelho, F Fonseca; Guimarães, F Loli; Cabral, W L Ribeiro; Salles, P G Oliveira; Mateo, E Cueva; Nogueira e Nogueira, L Mendes; Fonseca, C E Corradi; Gomes, K Braga

    2015-01-01

    We evaluated the expression of the PCA3 gene in urine from patients with nodular hyperplasia/benign prostatic hyperplasia (PNH) or adenocarcinoma type prostate cancer (PCa).The study included 59 men: 22 with PCa, 26 with PNH, and 11 with no alterations (controls). Patients' urine was collected following prostatic massage and quantified by quantitative real-time PCR for prostate cancer antigen 3 gene (PCA3) and prostate-specific antigen gene (PSA) expression with the ACTB gene for normalization. PCA3 gene expression was detected in 16 patients with PCa and 4 with PNH; in the control group, there was no expression of the gene. No significant difference was observed in the mean levels of PCA3 and PSA expression, the PCA3/PSA ratio, and the total PSA levels when the groups of patients with PCa and PNH were compared. The area under the receiver operating characteristic (ROC) curve was 0.625, 0.596, 0.559, and 0.503 for PCA3 and PSA expression, the PCA3/PSA ratio, and total PSA levels, respectively. The sensitivity and specificity of the PCA3 test were 73 and 85%, respectively. Considering the estimated cutoff values (0.2219 and 0.5007 for PCA3 and PCA3/PSA, respectively), we observed a significant difference between the frequency of individuals with values above in the PCa group compared with the PNH group (P < 0.001). We conclude that the qualitative PCA3 test could be applied to initial screening for differentiation between individuals with PCa or PNH and those without prostate changes. PMID:26535666

  18. Clonality as Expression of Distinctive Cell Kinetics Patterns in Nodular Hyperplasias and Adenomas of the Adrenal Cortex

    PubMed Central

    Díaz-Cano, Salvador J.; de Miguel, Manuel; Blanes, Alfredo; Tashjian, Robert; Galera, Hugo; Wolfe, Hubert J.

    2000-01-01

    Although histopathologic criteria for adrenal cortical nodular hyperplasias (ACNHs) and adenomas (ACAs) have been developed, their kinetics and clonality are virtually unknown. We studied 20 ACNHs and 25 ACAs (based on World Health Organization criteria) from 45 females. Representative samples were histologically evaluated, and the methylation pattern of the androgen receptor alleles was analyzed on microdissected samples. Consecutive sections were selected for slide cytometry, flow cytometry, and in situ end labeling (ISEL). Apoptosis was studied by flow cytometry (nuclear area/DNA content plotter analysis) and by ISEL. Appropriate tissue controls were run in every case. Polyclonal gel patterns were revealed in 14/18 informative ACNHs and in 3/22 informative ACAs, whereas monoclonal gel patterns were observed in 4/18 ACNHs and 19/22 ACAs. Overlapping proliferation rates (PRs) were observed in both clonal groups, and apoptosis was detected only in G0/G1 cells, especially in monoclonal ACNHs (3/4; 75%) and in polyclonal ACAs (2/3; 67%). Significantly higher PRs were observed in ACNHs with polyclonal patterns and G0/G1 apoptosis and in ACAs regardless of clonality pattern and presence of G0/G1 apoptosis. All except one ACNH (19/20; 95%) and 15/25 ACAs (60%) showed diploid DNA content, whereas the remaining cases were hyperdiploid. A direct correlation between PR and ISEL was observed in polyclonal lesions (PR = 29.32 ISEL − 1.93), whereas the correlation was inverse for monoclonal lesions (PR = −9.13 ISEL + 21.57). We concluded that only simultaneous down-regulated apoptosis and high proliferation result in selective kinetic advantage, dominant clone expansion, and unbalanced methylation patterns of androgen receptor alleles in ACNHs and ACAs. PMID:10623680

  19. Clonality as expression of distinctive cell kinetics patterns in nodular hyperplasias and adenomas of the adrenal cortex.

    PubMed

    Díaz-Cano, S J; de Miguel, M; Blanes, A; Tashjian, R; Galera, H; Wolfe, H J

    2000-01-01

    Although histopathologic criteria for adrenal cortical nodular hyperplasias (ACNHs) and adenomas (ACAs) have been developed, their kinetics and clonality are virtually unknown. We studied 20 ACNHs and 25 ACAs (based on World Health Organization criteria) from 45 females. Representative samples were histologically evaluated, and the methylation pattern of the androgen receptor alleles was analyzed on microdissected samples. Consecutive sections were selected for slide cytometry, flow cytometry, and in situ end labeling (ISEL). Apoptosis was studied by flow cytometry (nuclear area/DNA content plotter analysis) and by ISEL. Appropriate tissue controls were run in every case. Polyclonal gel patterns were revealed in 14/18 informative ACNHs and in 3/22 informative ACAs, whereas monoclonal gel patterns were observed in 4/18 ACNHs and 19/22 ACAs. Overlapping proliferation rates (PRs) were observed in both clonal groups, and apoptosis was detected only in G(0)/G(1) cells, especially in monoclonal ACNHs (3/4; 75%) and in polyclonal ACAs (2/3; 67%). Significantly higher PRs were observed in ACNHs with polyclonal patterns and G(0)/G(1) apoptosis and in ACAs regardless of clonality pattern and presence of G(0)/G(1) apoptosis. All except one ACNH (19/20; 95%) and 15/25 ACAs (60%) showed diploid DNA content, whereas the remaining cases were hyperdiploid. A direct correlation between PR and ISEL was observed in polyclonal lesions (PR = 29.32 ISEL - 1.93), whereas the correlation was inverse for monoclonal lesions (PR = -9.13 ISEL + 21.57). We concluded that only simultaneous down-regulated apoptosis and high proliferation result in selective kinetic advantage, dominant clone expansion, and unbalanced methylation patterns of androgen receptor alleles in ACNHs and ACAs. PMID:10623680

  20. 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.

  1. Does Establishing a Safety Margin Reduce Local Recurrence in Subsegmental Transarterial Chemoembolization for Small Nodular Hepatocellular Carcinomas?

    PubMed Central

    Kang, Hyo-Jin; Kim, Young Il; Kim, Hyo-Cheol; Jae, Hwan Jun; Hur, Saebeom

    2015-01-01

    Objective To test the hypothesis that a safety margin may affect local tumor recurrence (LTR) in subsegmental chemoembolization. Materials and Methods In 101 patients with 128 hepatocellular carcinoma (HCC) nodules (1-3 cm in size and ≤ 3 in number), cone-beam CT-assisted subsegmental lipiodol chemoembolization was performed. Immediately thereafter, a non-contrast thin-section CT image was obtained to evaluate the presence or absence of intra-tumoral lipiodol uptake defect and safety margin. The effect of lipiodol uptake defect and safety margin on LTR was evaluated. Univariate and multivariate analyses were performed to indentify determinant factors of LTR. Results Of the 128 HCC nodules in 101 patients, 49 (38.3%) nodules in 40 patients showed LTR during follow-up period (median, 34.1 months). Cumulative 1- and 2-year LTR rates of nodules with lipiodol uptake defect (n = 27) and those without defect (n = 101) were 58.1% vs. 10.1% and 72.1% vs. 19.5%, respectively (p < 0.001). Among the 101 nodules without a defect, the 1- and 2-year cumulative LTR rates for nodules with complete safety margin (n = 52) and those with incomplete safety margin (n = 49) were 9.8% vs. 12.8% and 18.9% vs. 19.0% (p = 0.912). In multivariate analyses, ascites (p = 0.035), indistinct tumor margin on cone-beam CT (p = 0.039), heterogeneous lipiodol uptake (p = 0.023), and intra-tumoral lipiodol uptake defect (p < 0.001) were determinant factors of higher LTR. Conclusion In lipiodol chemoembolization, the safety margin in completely lipiodolized nodule without defect will not affect LTR in small nodular HCCs. PMID:26357501

  2. Social cognition in pediatric-onset multiple sclerosis (MS)

    PubMed Central

    Charvet, LE; Cleary, RE; Vazquez, K; Belman, A; Krupp, LB

    2014-01-01

    Background Pediatric-onset multiple sclerosis (MS) patients represent a subpopulation who are diagnosed during the course of development. Social cognitive deficits have recently been recognized in adults with MS. It is critical to identify if these youngest patients with the disorder are also at risk. Objective To determine whether pediatric-onset MS is associated with social cognitive deficits. Methods Consecutively-recruited participants with pediatric-onset MS were compared to a group of age- and gender-matched healthy controls on Theory of Mind (ToM) task performance. Tasks measured facial affect recognition (Reading the Mind in the Eyes Test), understanding social faux pas (Faux Pas Test), and understanding the perspective of another (False Beliefs Task). Results Twenty-eight (28) pediatric-onset MS participants (median age 17 years) and 32 healthy controls (median age 16 years) completed the study. The MS participants performed worse than controls on all three ToM tasks: Reading the Mind in the Eyes Test (p=0.008), the Faux-Pas Test (p=0.009), and the False Beliefs Task (p=0.06). While more MS than control participants were impaired on a measure of information processing speed (the Symbol Digit Modalities Test; 38% versus 6%), it did not account for the differences in ToM performance. Conclusions Social cognition may represent an area of cognitive functioning affected by MS in the pediatric-onset population. These processes are especially important to study in younger patients as these deficits could have long range implications on social adjustment, employment, and well-being. PMID:24647558

  3. 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. PMID:17911460

  4. [Hepatocyte growth factor therapy for amyotrophic lateral sclerosis].

    PubMed

    Aoki, Masashi

    2012-03-01

    Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder characterized by the death of upper and lower motor neurons. Approximately 20% of familial ALS cases are caused by mutations in the superoxide dismutase 1 (SOD1) gene. We generated rats that express a human SOD1 transgene with two different ALS-associated mutations and found that these rats develop remarkable motor neuron degeneration and paralysis. This rat model, because of the larger size of the animals as compared to ALS-affected mice, will facilitate studies involving manipulation of the cerebrospinal fluid (CSF) (e.g., implantation of intrathecal catheters for chronic therapeutic studies; CSF sampling) or spinal cord (e.g., direct administration of viral- and cell-mediated therapies). The hepatocyte growth factor (HGF) is one of the most potent survival-promoting factors for motor neurons. To examine its protective effect on motor neurons and its therapeutic potential, we administered human recombinant HGF (hrHGF) to the transgenic rats, by continuous intrathecal delivery, for 4 weeks from the onset of paralysis. Intrathecal administration of hrHGF attenuated motor neuron degeneration and prolonged the duration of the disease 62.7% compared with the contrast group. Our results indicated the therapeutic efficacy of continuous intrathecal administration of hrHGF in ALS rats. To explore the potential use of this treatment strategy in humans, we induced a contusive cervical spinal cord injury in the common marmoset, a primate, and then administered hrHGF intrathecally. The intrathecal administration of hrHGF promoted functional recovery. These projects have been supported by the "Super Special Consortium for Supporting the Development of Cutting-edge Medical Care" (tokku), a special program organized by the Cabinet Office of the Japanese government (research representative: Hideyuki Okano, M.D., Ph.D., Professor at Keio University). PMID:22402718

  5. 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)

  6. Automatic memory processes in patients with multiple sclerosis.

    PubMed

    Grafman, J; Rao, S; Bernardin, L; Leo, G J

    1991-10-01

    To better understand the nature of the memory deficit in patients with multiple sclerosis, we designed a study to compare automatic vs effortful memory processes. Forty-one patients with definite multiple sclerosis and 45 demographically matched normal control subjects were administered two tasks designed to assess both automatic (monitoring frequency and modality) and effortful (free and cued-recall) processing. Results indicated that patients with multiple sclerosis, as expected, were significantly impaired on memory measures requiring effort, but performed normally on automatic measures. Performance on the memory indexes did not correlate with self-reported depression. The implications of these findings for delineating the locus of the memory impairment in multiple sclerosis is discussed. PMID:1929900

  7. 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

  8. Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations.

    PubMed

    Gipson, Tanjala T; Poretti, Andrea; Thomas, Emily A; Jenkins, Kosunique T; Desai, Sonal; Johnston, Michael V

    2015-12-01

    Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe 3 individuals with tuberous sclerosis complex who share common characteristics that can help to identify a distinct profile of autism spectrum disorder. These findings include typical cognitive development, expressive and pragmatic language deficits, and anxiety. The authors also describe features specific to tuberous sclerosis complex that require consideration before diagnosing an autism spectrum disorder. Identifying distinct profiles of autism spectrum disorder in tuberous sclerosis complex can help optimize treatment across the life span. PMID:26303410

  9. Melatonin Contributes to the Seasonality of Multiple Sclerosis Relapses.

    PubMed

    Farez, Mauricio F; Mascanfroni, Ivan D; Méndez-Huergo, Santiago P; Yeste, Ada; Murugaiyan, Gopal; Garo, Lucien P; Balbuena Aguirre, María E; Patel, Bonny; Ysrraelit, María C; Zhu, Chen; Kuchroo, Vijay K; Rabinovich, Gabriel A; Quintana, Francisco J; Correale, Jorge

    2015-09-10

    Seasonal changes in disease activity have been observed in multiple sclerosis, an autoimmune disorder that affects the CNS. These epidemiological observations suggest that environmental factors influence the disease course. Here, we report that melatonin levels, whose production is modulated by seasonal variations in night length, negatively correlate with multiple sclerosis activity in humans. Treatment with melatonin ameliorates disease in an experimental model of multiple sclerosis and directly interferes with the differentiation of human and mouse T cells. Melatonin induces the expression of the repressor transcription factor Nfil3, blocking the differentiation of pathogenic Th17 cells and boosts the generation of protective Tr1 cells via Erk1/2 and the transactivation of the IL-10 promoter by ROR-α. These results suggest that melatonin is another example of how environmental-driven cues can impact T cell differentiation and have implications for autoimmune disorders such as multiple sclerosis. PMID:26359987

  10. [Uncommon presentation of tuberous sclerosis in an infant].

    PubMed

    Denne, C; Gerstl, E-M; Mayer, K; Steinborn, M; Hahn, H; Burdach, S

    2011-06-01

    We report on an infant with an unusual presentation of tuberous sclerosis. After uncomplicated birth, a routine ultrasound was performed because the patient's brother had undergone nephrectomy at the age of four months due to multicystic renal dysplasia. All other family members were healthy. Multiple renal cysts were found in the boy's left kidney. The right kidney, which was normal initially, showed cysts after a few months. In a follow-up sonography at the age of 10 months, we found an aortic aneurysm measuring 4 × 7 cm. A brain NMR showed typical signs of tuberous sclerosis. Aortic aneurysm is very rarely associated with tuberous sclerosis. As a TSC2/PKD1 contiguous gene syndrome was excluded, in this case the child probably has two different diseases, i.e. tuberous sclerosis in addition to phenotypically unusual multicystic renal dysplasia. PMID:21514802

  11. Axillary vein thrombosis in adolescent onset systemic sclerosis.

    PubMed Central

    Leak, A; Patel, K J; Tuddenham, E G; Pearson, J D; Woo, P

    1990-01-01

    A 16 year old girl with a two year history of systemic sclerosis developed left axillary vein thrombosis. Prolonged euglobulin clot lysis time, anti-endothelial cell antibodies, and raised von Willebrand factor antigen were shown. Images PMID:2383084

  12. 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

  13. 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. PMID:6787085

  14. Myelin regeneration in multiple sclerosis: targeting endogenous stem cells.

    PubMed

    Huang, Jeffrey K; Fancy, Stephen P J; Zhao, Chao; Rowitch, David H; Ffrench-Constant, Charles; Franklin, Robin J M

    2011-10-01

    Regeneration of myelin sheaths (remyelination) after central nervous system demyelination is important to restore saltatory conduction and to prevent axonal loss. In multiple sclerosis, the insufficiency of remyelination leads to the irreversible degeneration of axons and correlated clinical decline. Therefore, a regenerative strategy to encourage remyelination may protect axons and improve symptoms in multiple sclerosis. We highlight recent studies on factors that influence endogenous remyelination and potential promising pharmacological targets that may be considered for enhancing central nervous system remyelination. PMID:21904791

  15. Early electrophysiological abnormalities in lumbar motoneurons in a transgenic mouse model of amyotrophic lateral sclerosis.

    PubMed

    Bories, Cyril; Amendola, Julien; Lamotte d'Incamps, Boris; Durand, Jacques

    2007-01-01

    Amyotrophic lateral sclerosis is a lethal, adult-onset disease characterized by progressive degeneration of motoneurons. Recent data have suggested that the disease could be linked to abnormal development of the motor nervous system. Therefore, we investigated the electrical properties of lumbar motoneurons in an in-vitro neonatal spinal cord preparation isolated from SOD1(G85R) mice, which is a transgenic model of amyotrophic lateral sclerosis. The study was performed on young animals at the beginning of their second week, between postnatal days 6 and 10. Measurements of resting membrane potential and action potential characteristics of motoneurons were similar in wild-type and SOD1(G85R) mice. However, the input resistance of motoneurons from transgenic mice was significantly lower than that of wild-type animals, whereas their membrane capacitance was increased, strongly suggesting larger SOD1(G85R) motoneurons. Furthermore, the slope of the frequency-intensity curve was steeper in motoneurons from wild-type pups. Interestingly, the input resistance as well as the slope of the frequency-intensity curves of other spinal neurons did not show such differences. Finally, the amplitude of dorsal root-evoked potentials following high-intensity stimulation was significantly smaller in SOD1(G85R) motoneurons. The superoxide dismutase 1 mutation thus induces specific alterations of the functional properties of motoneurons early in development. PMID:17284186

  16. Detection of sequences homologous to human retroviral DNA in multiple sclerosis by gene amplification

    SciTech Connect

    Greenberg, S.J.; Ehrlich, G.D.; Abbott, M.A.; Hurwitz, B.J.; Waldmann, T.A.; Poiesz, B.J. )

    1989-04-01

    Twenty-one patients with multiple sclerosis, chronic progressive type, were examined for DNA sequences homologous to a human retrovirus. Genomic DNA from peripheral blood mononuclear cells was analyzed for the presence of homologous sequences to the human T-cell leukemia/lymphoma virus type I (HTLV-I) long terminal repeat, 3{prime} gag, pol, and env domains by the enzymatic in vitro gene amplification technique, polymerase chain reaction. Positive identification of homologous pol sequences was made in the amplified DNA from six of these patients (29%). Three of these six patients (14%) also tested positive for the env region, but not for the other regions tested. In contrast, none of the samples from 35 normal individuals studied was positive when amplified and tested with the same primers and probes. Comparison of patterns obtained from controls and from patients with adult T-cell leukemia or tropical spastic paraparesis suggests that the DNA sequences identified are exogenous to the human genome and may correspond to a human retroviral species. The data support the detection of a human retroviral agent in some patients with multiple sclerosis.

  17. Pattern reversal visual evoked potentials in Japanese patients with multiple sclerosis.

    PubMed Central

    Shibasaki, H; Kuroiwa, Y

    1982-01-01

    Forty-seven Japanese patients with multiple sclerosis, 29 probable (clinically definite) and 18 possible, were studied by black-and-white checkerboard pattern reversal visual evoked potential and were compared with a control group of 20 healthy young adults. The major positive peak (P100) was found to be abnormal in 70% of all cases, 90% of probable cases and 39% of possible cases. P100 was delayed in 38% of all cases and was absent in 23% of all cases. None of the eyes showing a flat pattern response was in the acute stage of optic neuritis. The percentage of cases with no response (23% of all cases) was greater than any of the previously reported series from Western countries, substantiating the previously reported clinical features of oriental multiple sclerosis. The pattern response was absent only when testing eyes with severe visual impairment, whereas delayed latency of P100 was seen regardless of the severity of visual impairment, suggesting the usefulness of P100 latency for detecting subclinical optic nerve lesions. PMID:7161609

  18. Phonological Fluency Strategy of Switching Differentiates Relapsing-Remitting and Secondary Progressive Multiple Sclerosis Patients

    PubMed Central

    Messinis, L.; Kosmidis, M. H.; Vlahou, C.; Malegiannaki, A. C.; Gatzounis, G.; Dimisianos, N.; Karra, A.; Kiosseoglou, G.; Gourzis, P.; Papathanasopoulos, P.

    2013-01-01

    The strategies used to perform a verbal fluency task appear to be reflective of cognitive abilities necessary for successful daily functioning. In the present study, we explored potential differences in verbal fluency strategies (switching and clustering) used to maximize word production by patients with relapsing-remitting multiple sclerosis (RRMS) versus patients with secondary progressive multiple sclerosis (SPMS). We further assessed impairment rates and potential differences in the sensitivity and specificity of phonological versus semantic verbal fluency tasks in discriminating between those with a diagnosis of MS and healthy adults. We found that the overall rate of impaired verbal fluency in our MS sample was consistent with that in other studies. However, we found no differences between types of MS (SPMS, RRMS), on semantic or phonological fluency word production, or the strategies used to maximize semantic fluency. In contrast, we found that the number of switches differed significantly in the phonological fluency task between the SPMS and RRMS subtypes. The clinical utility of semantic versus phonological fluency in discriminating MS patients from healthy controls did not indicate any significant differences. Further, the strategies used to maximize performance did not differentiate MS subgroups or MS patients from healthy controls. PMID:23401793

  19. Perceived Impact of Spasticity Is Associated with Spatial and Temporal Parameters of Gait in Multiple Sclerosis

    PubMed Central

    Balantrapu, Swathi; Sandroff, Brian M.; Sosnoff, Jacob J.; Motl, Robert W.

    2012-01-01

    Background. Spasticity is prevalent and disabling in persons with multiple sclerosis (MS), and the development of the Multiple Sclerosis Spasticity Scale-88 (MSSS-88) provides an opportunity for examining the perceived impact of spasticity and its association with gait in this population. Purpose. This study examined the association between the perceived impact of spasticity and spatio-temporal parameters of gait in persons with MS. Methods. The sample included 44 adults with MS who completed the MSSS-88 and 4 walking trials on a 26-foot GAITRiteTM electronic walkway for measurement of spatio-temporal components of gait including velocity, cadence, base of support, step time, single support, double support, and swing phase. Results. The overall MSSS-88 score was significantly associated with velocity (r = −0.371), cadence (r = −0.306), base of support (r = 0.357), step time (r = 0.305), single leg support (r = −0.388), double leg support (r = 0.379), and swing phase (r = −0.386). Conclusions. The perceived impact of spasticity coincides with alterations of the spatio-temporal parameters of gait in MS. This indicates that subsequent interventions might target a decrease in spasticity or its perceived impact as an approach for improving mobility in MS. PMID:22462022

  20. No association between body composition and cognition in ambulatory persons with multiple sclerosis: A brief report.

    PubMed

    Sandroff, Brian M; Hubbard, Elizabeth A; Pilutti, Lara A; Motl, Robert W

    2015-01-01

    There is evidence that body fat is inversely associated with cognitive functioning in adults from the general population, and this has been associated with systemic inflammation. The association between body fat and cognition might further be augmented in the presence of an immune-mediated, inflammatory disease such as multiple sclerosis (MS). This cross-sectional study investigated the associations between objective measures of body composition and cognitive function in 60 persons with MS. Participants underwent a neurological examination for generating Expanded Disability Status Scale scores, followed by the Brief International Cognitive Assessment in Multiple Sclerosis neuropsychological battery for measurement of cognitive processing speed, verbal learning and memory, and visual learning and memory. Whole-body fat mass, percent body fat, lean body mass, and bone mineral density were measured using dual-energy X-ray absorptiometry. Whole-body fat mass and percent body fat were not associated with any cognitive outcome (all p > 0.41). However, lean body mass was associated with cognitive processing speed (p < 0.03), and bone mineral density was associated with cognitive processing speed and verbal learning and memory. Those associations were attenuated and nonsignificant after controlling for age and Expanded Disability Status Scale scores (p > 0.13). Body composition might not represent a target of interventions for improving cognitive processing speed or learning and memory in MS. PMID:26230584