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Sample records for term clinical disease

  1. Long-term pruritus as the initial and sole clinical manifestation of occult Hodgkin's disease.

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    Omidvari, Shapour H; Khojasteh, Habib Noorani; Mohammadianpanah, Mohammad; Monabati, Ahmad; Mosalaei, Ahmad; Ahmadloo, Niloofar

    2004-06-01

    Pruritus or itch is a frequent symptom of patients with Hodgkin's disease. It often occurs during the clinical course of the disease and rarely may precede the diagnosis of underlying disease. In this report, we present a 16-year-old patient who had history of generalized pruritus without any skin rash for 4 years before the diagnosis of Hodgkin's disease. Within that period, she had received symptom-oriented medications, with no significant effect. After the first cycle of chemotherapy, her pruritus resolved completely. This case suggests that long-term generalized pruritus may be indicative of a significant underlying problem like Hodgkin's disease.

  2. Multidimensional Analyses of Long-Term Clinical Courses of Asthma and Chronic Obstructive Pulmonary Disease

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    Toru Oga

    Full Text Available ABSTRACT: Asthma and chronic obstructive pulmonary disease (COPD are chronic respiratory disorders involving obstructive airway defects. There have been many discussions on their similarities and differences. Although airflow limitation expressed as forced expiratory volume in one second (FEV1 has been considered to be the main diagnostic assessment in both diseases, it does not reflect the functional impairment imparted to the patients by these diseases. Therefore, multidimensional approaches using multiple measurements in assessing disease control or severity have been recommended, and multiple endpoints in addition to FEV1 have been set recently in clinical trials so as not to miss the overall effects. In particular, as improving symptoms and health status as well as pulmonary function are important goals in the management of asthma and COPD, some patient-reported measurements such as health-related quality of life or dyspnea should be included. Nonetheless, there have been few reviews on the long-term clinical course comparing asthma and COPD as predicted by measurements other than airflow limitation. Here, we therefore analyzed and compared longitudinal changes in both physiological measurements and patient-reported measurements in asthma and COPD. Although both diseases showed similar long-term progressive airflow limitation similarly despite guideline-based therapies, disease progression was different in asthma and COPD. In asthma, patient-reported assessments of health status, disability and psychological status remained clinically stable over time, in contrast to the significant deterioration of these parameters in COPD. Thus, because a single measurement of airflow limitation is insufficient to monitor these diseases, multidimensional analyses are important not only for disease control but also for understanding disease progression in asthma and COPD. KEY WORDS: asthma, COPD, longitudinal survey, multidimensional analysis, patient

  3. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

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    Weinreb, Neal J.; Goldblatt, Jack; Villalobos, Jacobo; Charrow, Joel; Cole, J. Alexander; Kerstenetzky, Marcelo; vom Dahl, Stephan; Hollak, Carla

    2013-01-01

    We studied the effect of long-term alglucerase/imiglucerase (Ceredase®/Cerezyme®, Genzyme, a Sanofi company, Cambridge, MA, USA) treatment on hematological, visceral, and bone manifestations of Gaucher disease type 1 (GD1). The International Collaborative Gaucher Group (ICGG) Gaucher Registry

  4. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.

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    Weinreb, Neal J; Goldblatt, Jack; Villalobos, Jacobo; Charrow, Joel; Cole, J Alexander; Kerstenetzky, Marcelo; vom Dahl, Stephan; Hollak, Carla

    2013-05-01

    We studied the effect of long-term alglucerase/imiglucerase (Ceredase®/Cerezyme®, Genzyme, a Sanofi company, Cambridge, MA, USA) treatment on hematological, visceral, and bone manifestations of Gaucher disease type 1 (GD1). The International Collaborative Gaucher Group (ICGG) Gaucher Registry identified GD1 patients treated with alglucerase/imiglucerase who had dose and clinical data at first infusion and after 10 years of follow-up. Data for hemoglobin, platelet count, organ volumes, bone pain, and bone crisis were analyzed. Tests of the null hypothesis (no change from first infusion to 10 years) were performed using t tests for within-patient absolute change in continuous measurements and McNemar/chi-square tests for change in distributions using categorical values. An alpha level of 0.05 designated statistical significance. As of October 2011, 557 nonsplenectomized and 200 splenectomized patients met the inclusion criteria. The majority of GD1 patients had at least one N370S allele. Compared with nonsplenectomized patients at first infusion, splenectomized patients had lower percentages of anemia (26.0 % vs. 42.8 %) and thrombocytopenia (14.2 % vs. 76.3 %), similar percentages of moderate or severe hepatomegaly (81.2 % vs. 80.0 %), and higher percentages of bone pain (88.9 % vs. 52.4 %) and bone crises (38.3 % vs. 16.0 %). After 10 years, both groups showed significant (p < 0.05) improvements in mean hemoglobin levels, platelet count, liver, and spleen (nonsplenectomized) volumes, and bone crises. Initial dosing in both groups ranged from <15 U/kg to ≤90 U/kg every 2 weeks. After 10 years, the majority was receiving 15 to ≤45 U/kg every 2 weeks. Ten years of imiglucerase treatment results in sustainable improvements in all GD1 parameters.

  5. The clinical utility of long-term humidification therapy in chronic airway disease.

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    Rea, Harold; McAuley, Sue; Jayaram, Lata; Garrett, Jeffrey; Hockey, Hans; Storey, Louanne; O'Donnell, Glenis; Haru, Lynne; Payton, Matthew; O'Donnell, Kevin

    2010-04-01

    Persistent airway inflammation with mucus retention in patients with chronic airway disorders such as COPD and bronchiectasis may lead to frequent exacerbations, reduced lung function and poor quality of life. This study investigates if long-term humidification therapy with high flow fully humidified air at 37 degrees C through nasal cannulae can improve these clinical outcomes in this group of patients. 108 patients diagnosed with COPD or bronchiectasis were randomised to daily humidification therapy or usual care for 12 months over which exacerbations were recorded. Lung function, quality of life, exercise capacity, and measures of airway inflammation were also recorded at baseline, 3 and 12 months. Patients on long-term humidification therapy had significantly fewer exacerbation days (18.2 versus 33.5 days; p = 0.045), increased time to first exacerbation (median 52 versus 27 days; p = 0.0495) and reduced exacerbation frequency (2.97/patient/year versus 3.63/patient/year; p = 0.067) compared with usual care. Quality of life scores and lung function improved significantly with humidification therapy compared with usual care at 3 and 12 months. Long-term humidification therapy significantly reduced exacerbation days, increased time to first exacerbation, improved lung function and quality of life in patients with COPD and bronchiectasis. Clinical trial registered with www.actr.org.au; Number ACTRN2605000623695. Copyright 2010 Elsevier Ltd. All rights reserved.

  6. Mid-term clinical outcome of radial shortening for kienbock disease

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    Mohammad H Ebrahimzadeh

    2015-01-01

    Full Text Available Background: To evaluate the intermediate-term outcomes of radius shortening as a treatment for Kienbock′s disease. Materials and Methods: In a historical cohort, 16 skeletally mature patients (9 men and 7 women with Kienbock disease, who were treated with radial shortening osteotomy between 2002 and 2012, were reviewed in our study. The mean age of our patients was 30 (range 18-43 years old. According to Litchman staging, there were 7 wrists at stage II and 9 wrists at stage III (6 at stage IIIA and 3 at stage IIIB. The data of grip strength, pain (visual analog scale (VAS score, wrist range of motion (ROM, ulnar variance (according to Palmer method, and the Lichtman stage were gathered before and after surgery. We evaluated overall wrist function using the Mayo Wrist score and disabilities of the arm shoulder and hand (DASH score before surgery and at the last follow-up. Results: The average of follow-up was 7 years (range from 5 to 9 years. Preoperative ulnar variance was -1.3 mm (range from 2.5 to 1 preoperatively. The mean postoperative ulnar variance was 1 mm positive (range from 0.5 to 1.5. The VAS pain score, the mean arc of wrist flexion and extension, and grip strength improved significantly preoperatively compared to after recovery from surgery. The Lichtman stage was unchanged in nine patients, one grade worse in six patients, and one grade better in one patient. The mean DASH and Mayo scores improved significantly postoperatively compare with preoperation. Comparing preoperative positive, neuter, and negative ulnar variance, there was no significant difference in terms of VAS, DASH, and Mayo scores as well as ROM and grip strength. Conclusion: Our study shows that radius shortening surgery improves pain and disability regardless of ulnar variance.

  7. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

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    Parini, Rossella; De Lorenzo, Paola; Dardis, Andrea; Burlina, Alberto; Cassio, Alessandra; Cavarzere, Paolo; Concolino, Daniela; Della Casa, Roberto; Deodato, Federica; Donati, Maria Alice; Fiumara, Agata; Gasperini, Serena; Menni, Francesca; Pagliardini, Veronica; Sacchini, Michele; Spada, Marco; Taurisano, Roberta; Valsecchi, Maria Grazia; Di Rocco, Maja; Bembi, Bruno

    2018-02-08

    Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a close relationship between clinical outcome and patients' cross-reactive immunological status (CRIM), being CRIM-negative status a negative prognostic factor. At the same time limited data are available on the long-term treatment in CRIM-positive infants. A retrospective multicentre observational study was designed to analyse the long-term effectiveness of ERT in IOPD. Thirteen Italian centres spread throughout the country were involved and a cohort of 28 patients (15 females, 13 males, born in the period: February 2002-January 2013) was enrolled. IOPD diagnosis was based on clinical symptoms, enzymatic and molecular analysis. All patients received ERT within the first year of life. Clinical, laboratory, and functional data (motor, cardiac and respiratory) were collected and followed for a median period of 71 months (5 years 11 months). Median age at onset, diagnosis and start of ERT were 2, 3 and 4 months, respectively. CRIM status was available for 24/28 patients: 17/24 (71%) were CRIM-positive. Nineteen patients (67%) survived > 2 years: 4 were CRIM-negative, 14 CRIM-positive and one unknown. Six patients (5 CRIM-positive and one unknown) never needed ventilation support (21,4%) and seven (6 CRIM-positive and one unknown: 25%) developed independent ambulation although one subsequently lost this function. Brain imaging study was performed in 6 patients and showed peri-ventricular white matter abnormalities in all of them. Clinical follow-up confirmed the better prognosis for CRIM-positive patients, though a slow, progressive worsening of motor and/or respiratory functions was detected in 8 patients. These data are the result of the longest independent retrospective study on ERT in IOPD reported so far outside clinical trials. The data obtained

  8. Determinants and Long-Term Outcomes of Percutaneous Coronary Interventions vs. Surgery for Multivessel Disease According to Clinical Presentation.

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    Hong, Sung-Jin; Kim, Byeong-Keuk; Shin, Sanghoon; Suh, Yongsung; Kim, Seunghwan; Ahn, Chul-Min; Kim, Jung-Sun; Ko, Young-Guk; Choi, Donghoon; Hong, Myeong-Ki; Jang, Yangsoo

    2018-03-23

    The long-term outcome of percutaneous coronary intervention (PCI) vs. coronary artery bypass graft (CABG), particularly for patients with non-ST-elevation acute coronary syndrome (NSTE-ACS), remains controversial.Methods and Results:We retrospectively analyzed 2,827 patients (stable coronary artery disease [SCAD], n=1,601; NSTE-ACS, n=1,226) who underwent either PCI (n=1,732) or CABG (n=1,095). The 8-year composite of cardiac death and myocardial infarction (MI) was compared between PCI and CABG before and after propensity matching. For patients with NSTE-ACS, PCI was performed more frequently for those with higher Thrombolysis in Myocardial Infarction risk score and 3-vessel disease, and PCI led to significantly higher 8-year composite of cardiac death and MI than CABG (14.1% vs. 5.9%, hazard ratio [HR]=2.22, 95% confidence interval [CI]=1.37-3.58, P=0.001). There was a significant interaction between clinical presentation and revascularization strategy (P-interaction=0.001). However, after matching, the benefit of CABG vs. PCI was attenuated in patients with NSTE-ACS, whereas it was pronounced in those with SCAD. Interactions between clinical presentation and revascularization strategy were not observed (P-interaction=0.574). Although the determinants of PCI vs. CABG in real-world clinical practice differ according to the clinical presentation, a significant interaction between clinical presentation and revascularization strategy was not noted for long-term outcomes. The revascularization strategy for patients with NSTE-ACS can be based on the criteria applied to patients with SCAD.

  9. Long term outcomes following achievement of clinically inactive disease in juvenile idiopathic arthritis: the importance of definition.

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    Shoop-Worrall, Stephanie Jw; Verstappen, Suzanne Mm; McDonagh, Janet E; Baildam, Eileen; Chieng, Alice; Davidson, Joyce; Foster, Helen; Ioannou, Yiannis; McErlane, Flora; Wedderburn, Lucy R; Thomson, W; Hyrich, Kimme L

    2018-04-12

    Potential targets for treat-to-target strategies in JIA are minimal disease activity (MDA) and clinically inactive disease (CID). Short and long-term outcomes following achievement of MDA and CID on the cJADAS10 and CID on Wallace's preliminary criteria were compared. Children recruited to the Childhood Arthritis Prospective Study, a UK multicentre inception cohort, were selected if recruited prior to January 2011 and diagnosed with oligoarthritis or rheumatoid factor negative or positive polyarthritis. At one year following diagnosis, children were assessed for MDA on the cJADAS10 and CID on both Wallace's preliminary criteria and the cJADAS10. Associations were tested between these disease states and i) functional ability, ii) absence of limited joints, iii) psychosocial health and v) pain at one year and annually to five years. Of 832 children, 70% were female and the majority had oligoarthritis (68%). At one year, 21% had achieved CID according to both definitions, 7% on Wallace's preliminary criteria only, 16% on cJADAS10 only and 56% on neither. Only 10% of children in the entire cohort achieved MDA without also having CID. Achieving either early CID state was associated with greater absence of limited joints. However, only CID on cJADAS10 was associated with improved functional ability and psychosocial health. Achieving CID was superior to MDA in terms of short and long-term pain and the absence of limited joints. CID on the cJADAS10 may be a preferable treatment target to CID on Wallace's preliminary criteria in terms of both feasibility of application and long-term outcomes. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  10. A clinical study of short-term sternal photoplethysmography: recordings from patients with obstructive airways diseases

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    Chreiteh, Shadi; Saadi, Dorthe Bodholt; Belhage, Bo

    2016-01-01

    and commercially accepted range. We then compared the SpO2 levels simultaneously obtained from the sternal PPGs and a commercially available finger pulse oximeter on 28 admitted patients with either asthma or Chronic Obstructive Pulmonary Disease (COPD). The Pearson correlation between the SpO2 levels estimated...

  11. Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy

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    Madsen, Christoffer Valdorff; Bundgaard, Henning; Rasmussen, Åse Krogh

    2017-01-01

    from baseline to follow-up; 30 mm [15-53] vs. 25 mm [3-44], p vs. 1520 mm·ms [550-5740], p within the non-ERT group. During follow-up, cardiac symptoms and use of cardiovascular procedures and -medication increased...... significantly in the ERT group, whereas no differences were observed within the non-ERT group. DISCUSSION: We raise concerns regarding the efficacy and benefit of ERT on cardiac involvement in Fabry disease and stress the need for further research....... and Holter-monitoring. RESULTS: We included 66 patients; 47 patients (27 women) received ERT (ERT group) and 19 patients (15 women) did not (non-ERT group). The groups were followed for a median of 8 [0-12] years and 6 [0-13] years, respectively. Comparison between ERT and non-ERT receiving patients by left...

  12. Long-term effect of galantamine on cognitive function in patients with Alzheimer’s disease versus a simulated disease trajectory: an observational study in the clinical setting

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    Nakagawa R

    2017-04-01

    Full Text Available Ryoko Nakagawa,1 Takashi Ohnishi,1 Hisanori Kobayashi,1 Toshio Yamaoka,2 Tsutomu Yajima,3 Ai Tanimura,4 Toshiya Kato,4 Kazutake Yoshizawa1 1Evidence Generation Department, Medical Affairs Division, 2Clinical Data Management Department, R&D Division, 3Biostatistics Department, Quantitative Science Division, 4Drug Surveillance Department, R&D Division, Janssen Pharmaceutical K.K., Tokyo, Japan Background: Long-term maintenance of cognitive function is an important goal of treatment for Alzheimer’s disease (AD, but evidence about the long-term efficacy of cholinesterase inhibitors is sparse. To evaluate the long-term efficacy and safety of galantamine for AD in routine clinical practice, we conducted a 72-week post-marketing surveillance study. The effect of galantamine on cognitive function was estimated in comparison with a simulated disease trajectory. Patients and methods: Patients with mild-to-moderate AD received flexible dosing of galantamine (16–24 mg/day during this study. Cognitive function was assessed by the mini mental state examination (MMSE and the clinical status was determined by the Clinical Global Impression-Improvement (CGI-I. Changes of the MMSE score without treatment were estimated in each patient using Mendiondo’s model. Generalized linear mixed model analysis was performed to compare the simulated MMSE scores with the actual scores. Results: Of the 661 patients who were enrolled, 642 were evaluable for safety and 554 were assessed for efficacy. The discontinuation rate was 46.73%. Cognitive decline indicated by the mean change of actual MMSE scores was significantly smaller than the simulated decline. Individual analysis demonstrated that >70% of patients had better actual MMSE scores than their simulated scores. Significant improvement of CGI-I was also observed during the observation period. Adverse events occurred in 28.5% of patients and were serious in 8.41%. The reported events generally corresponded with the

  13. Combined therapy in gastro-esophageal reflux disease of term neonates resistant to conservative therapy and monotherapy: a clinical trial

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    Peymaneh Alizadeh Taheri

    2018-05-01

    Full Text Available Background: Gastroesophageal reflux disease (GERD is one of the most common problems in neonates. The main clinical manifestations of neonatal GERD are frequent regurgitation or vomiting associated with irritability, crying, anorexia or feeding refusal, failure to thrive, arching of the back and sleep disturbance.Aims: As no study has compared metoclopramide plus ranitidine with metoclopramide plus omeprazole in the management of neonatal GERD resistant to conservative and monotherapy, this study was carried out.Study design: This study was a randomized clinical trial of term neonates with GERD resistant to conservative and monotherapy admitted to the neonatal ward of Bahrami Children Hospital during 2013-2015. Totally, 116 term neonates (mean age 10.53 ± 8.17 days; girls 50.9% were randomly assigned to a double blind trial with either oral omeprazole plus metoclopramide (group A or oral ranitidine plus metoclopramide (group B. The changes of the symptoms and signs were recorded after one week and one month.Results: There was no significant difference in demographic and baseline characteristics between the two groups. The response rate of “omeprazole plus metoclopramide” was significantly higher than “ranitidine plus metoclopramide” (93.74% ± 7.28% vs. 75.43% ± 23.24%, p = 0.028. All clinical manifestations recovered significantly in group A while the response rate of irritability and wheezing was not significant in group B (primary outcome. There were no side effects in either group after one week and one month of treatment (secondary outcome.Conclusions: The response rate was > 70% in each group, but it was significantly higher in group A (> 90%. Combination of each acid suppressant with metoclopramide led to higher response rate in comparison with monotherapy used before intervention.

  14. Long-term efficacy of aspirin desensitization in aspirin-exacerbated respiratory disease. Review of two clinical cases

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    Julio César Cambray-Gutiérrez

    2016-05-01

    Clinical cases: two patients diagnosed with respiratory disease exacerbated by aspirin, with poor asthma control and need for multiple polypectomies, despite optimal pharmacological management, carrying out protocol desensitization to aspirin (AAS successful, now after 4 years of having carried out, they have adequate asthma control without need for polypectomies with a maintenance dose of aspirin 150 mg/day.

  15. Celiac disease: clinical observations

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    Yu. A. Emel’yanova

    2016-01-01

    Full Text Available Presented clinical cases of patients with a diagnosis of gluten enteropathy in treatment in the department of gastroenterology Regional Clinical Hospital. The case is of interest to doctors of different specialties for the differential diagnosis of anemia and malabsorption syndrome, demonstrate both the classic version, and atypical forms of the disease course. Diagnosis of celiac disease is based on three key positions: clinical findings, histology and serological markers. The clinical picture of celiac disease is characterized by pronounced polymorphism, by going beyond the a gastroenterological pathology. For screening of gluten sensitive celiac typically used an antibody to tissue transglutaminase. Morphological research of the mucous membrane of the small intestine is the determining criterion in the diagnosis of celiac disease. The use of specific gluten-free diet leads to the positive dynamics of the disease and improve the quality of life of patients.

  16. ADIPOSITY-BASED CHRONIC DISEASE AS A NEW DIAGNOSTIC TERM: THE AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY POSITION STATEMENT.

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    Mechanick, Jeffrey I; Hurley, Daniel L; Garvey, W Timothy

    2017-03-01

    The American Association of Clinical Endocrinologists (AACE) and American College of Endocrinology (ACE) have created a chronic care model, advanced diagnostic framework, clinical practice guidelines, and clinical practice algorithm for the comprehensive management of obesity. This coordinated effort is not solely based on body mass index as in previous models, but emphasizes a complications-centric approach that primarily determines therapeutic decisions and desired outcomes. Adiposity-Based Chronic Disease (ABCD) is a new diagnostic term for obesity that explicitly identifies a chronic disease, alludes to a precise pathophysiologic basis, and avoids the stigmata and confusion related to the differential use and multiple meanings of the term "obesity." Key elements to further the care of patients using this new ABCD term are: (1) positioning lifestyle medicine in the promotion of overall health, not only as the first algorithmic step, but as the central, pervasive action; (2) standardizing protocols that comprehensively and durably address weight loss and management of adiposity-based complications; (3) approaching patient care through contextualization (e.g., primordial prevention to decrease obesogenic environmental risk factors and transculturalization to adapt evidence-based recommendations for different ethnicities, cultures, and socio-economics); and lastly, (4) developing evidence-based strategies for successful implementation, monitoring, and optimization of patient care over time. This AACE/ACE blueprint extends current work and aspires to meaningfully improve both individual and population health by presenting a new ABCD term for medical diagnostic purposes, use in a complications-centric management and staging strategy, and precise reference to the obesity chronic disease state, divested from counterproductive stigmata and ambiguities found in the general public sphere. AACE = American Association of Clinical Endocrinologists ABCD = Adiposity

  17. Long-term changes in ADAS-cog: what is clinically relevant for disease modifying trials in Alzheimer?

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    Vellas, B; Andrieu, S; Cantet, C; Dartigues, J F; Gauthier, S

    2007-01-01

    With the development of long-term disease modifying trials, changes in ADAS-Cog at 18 months will rise certainly many questions. We decided to look in the Real.fr study at the links between changes in cognition, ADAS-Cog and function. A total of 346 Alzheimer's patients with ADAS-cog at entry and at 18 months. were eligible for this analysis. These patients were on average 77.44 years old and 254 (72.36%) were women. The great majority lived at home and about 93% were treated with a cholinesterase inhibitor at baseline. Thirty three patients (9%) had a gain of more than 2 points at the ADAS-cog at 18 months (Group I, improvement); 130 (38%) were considered as stable, the reference group (Group II ) characterized by a stability at the ADAS-cog: decline of 2 points to gain of 2 points, 112 subjects (32%) had a moderate decline between 2 and 7 at the ADAScog (Group III) and finally 71 subjects (21%) had a severe impairment more than seven points at the ADAS-cog. A loss of one Basic ADL is certainly highly relevant, and such a change was found at 18 months in more than half of the subjects, which is not surprising for a long-term evolution in mild to moderate AD. An impairment of more than 7 points at the ADAS-cog was found in 21% of the subjects at 18 months and was associated with loss.

  18. Clinical, demographic characteristics and results of the long term follow-up in adolescents and adults with congenital heart disease

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    I.G. Lebid

    2016-05-01

    Full Text Available The aim – to analyze clinical and demographic indicators in adolescents and adults with congenital heart disease (CHD to provide strategy of cardiac care for these patients, to assess risk of cardiological and cardiac surgery interventions in patients with congenital heart malformations. Materials and methods. 2569 consecutive patients, aged 16–88 years, mean age 24.14 ± 0.20 years, were selected in electronic database from April 01, 2011 to December 31, 2015. The majority (92.57 % of the included patients (n = 2378 were younger than 40 years. Results. Among all CHD patients, a significant majority had septal defects (39 % and left heart lesions (24 %, followed by congenital lesions of thoracic arteries and veins (16 % and right heart lesions (10 %. The annual number of the examined patients with CHD progressively increased (from 210 in 2011 to 656 in 2015. The number of patients aged 18 years or older mostly increased. The number of patients older than 40 years increased from nine patients in 2011 to 75 adults in 2015. Patients after cardiac surgery and percutaneous transcatheter interventions dominated (n=1553, 60.45 %, compared to the patients without any interventions for CHD (n = 1016, 39.55 %. Only one intervention for CHD was performed in the majority of these patients (n = 1255, 80.81 %, 12.94 % needed two interventions, 3.99 % – three, 2.26 % – three or more interventions. Conclusions. Among patients with congenital heart disease, patients younger than 40 years old were prevalent (92.57 %, with no significant gender differences. Septal defects (ASD, VSD, left heart lesions (congenital aortic valve stenosis and insufficiency, congenital lesions of thoracic arteries and veins (patent ductus arteriosus and aorta coarctation were registered most often in adolescents and adults.

  19. Long-term outcome of FFR-guided PCI for stable coronary artery disease in daily clinical practice

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    De Backer, Ole; Biasco, Luigi; Lønborg, Jacob

    2016-01-01

    AIMS: Our aim was to investigate the strength of fractional flow reserve (FFR)-guided percutaneous coronary intervention (PCI) for stable coronary artery disease (CAD) in daily practice. METHODS AND RESULTS: For this study, 3,512 patients with stable CAD and at least one 50-89% coronary stenosis...... were identified; those patients thought to require PCI (n=1,716) were selected. Of these, 962 (56%) were treated based on angiography (XA) alone, whereas 754 patients (44%) had an FFR-guided treatment. In the latter group, 321 patients (43%) were reallocated to another treatment, predominantly medical...... treatment. After propensity score matching, the number of indicated lesions was 957 in the XA-guided group and 947 in the FFR-guided group. FFR guidance resulted in PCI deferral in 462 lesions (48.8%). In a seven-day landmark analysis, the rate of periprocedural myocardial infarction (MI) was less than half...

  20. Long-Term Therapy Outcomes When Treating Chronic Kidney Disease Patients with Paricalcitol in German and Austrian Clinical Practice (TOP Study

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    Nicholas Obermüller

    2017-09-01

    Full Text Available Paricalcitol is approved for prevention and therapy of secondary hyperparathyroidism (sHPT in patients with chronic kidney disease (CKD, with only short-term data in clinical routine settings. A 12-month observational study was conducted in Germany and Austria (90 centers, 761 patients from 2008 to 2013. Laboratory values, demographical, and clinical data were documented in 629 dialysis patients and 119 predialysis patients. In predialysis patients, median intact parathormone (iPTH was 180.0 pg/mL (n = 105 at the start of the study, 115.7 pg/mL (n = 105 at last documentation, and 151.8 pg/mL (n = 50 at month 12, with 32.4% of the last documented iPTH values in the KDOQI (Kidney Disease Outcomes Quality Initiative target range. In dialysis patients, median iPTH was 425.5 pg/mL (n = 569 at study start, 262.3 pg/mL (n = 569 at last documentation, and 266.1 pg/mL (n = 318 at month 12, with 36.5% of dialysis patients in the KDOQI target range. Intravenous paricalcitol showed more homogenous iPTH control than oral treatment. Combined analysis of all dialysis patients indicated comparable and stable mean serum calcium and phosphate levels throughout the study. Clinical symptoms, such as itching, bone pain, and fatigue, were improved compared with study entry. The spectrum and frequency of adverse events mirrored the known pattern for patients on dialysis. Paricalcitol is efficacious and has a consistent safety profile in sHPT over 12 months.

  1. Effects of selenium on short-term control of hyperthyroidism due to Graves' disease treated with methimazole: results of a randomized clinical trial.

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    Leo, M; Bartalena, L; Rotondo Dottore, G; Piantanida, E; Premoli, P; Ionni, I; Di Cera, M; Masiello, E; Sassi, L; Tanda, M L; Latrofa, F; Vitti, P; Marcocci, C; Marinò, M

    2017-03-01

    In spite of previous conflicting results, an adjuvant role of selenium in the treatment of Graves' disease (GD) hyperthyroidism has been proposed. To address this issue, a randomized clinical trial was carried out aimed at investigating whether selenium is beneficial on the short-term control of GD hyperthyroidism treated with methimazole (MMI). Thirty newly diagnosed hyperthyroid GD patients were randomly assigned to treatment with: (i) MMI or (ii) MMI plus selenium. Primary outcomes were: control of hyperthyroidism and clinical and biochemical manifestations of hyperthyroidism [heart rate, cholesterol, sex hormone-binding globulin (SHBG), hyperthyroidism symptoms] at 90 days. Baseline features of the two groups did not differ. Serum selenium at baseline was similar in the two groups and within the recommended range to define selenium sufficiency. Selenium increased with treatment in the MMI-selenium group and became significantly higher than in the MMI group. Serum malondialdehyde, a marker of oxidative stress, was similar in the two groups and decreased significantly with treatment, with no difference between groups. Administration of MMI was followed by a reduction of FT 3 and FT 4 , with no difference between groups. Heart rate, SHBG and symptoms of hyperthyroidism decreased, whereas total cholesterol increased in both groups with no difference between groups. Our study, carried out in a selenium-sufficient cohort of GD patients, failed to show an adjuvant role of selenium in the short-term control of hyperthyroidism. However, selenium might be beneficial in patients from selenium-deficient areas, as well as in the long-term outcome of antithyroid treatment.

  2. Long-term safety and efficacy of adalimumab for intestinal Behçet's disease in the open label study following a phase 3 clinical trial

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    Nagamu Inoue

    2017-07-01

    Full Text Available Background/Aims: Intestinal Behçet's disease (BD is an immune-mediated inflammatory disorder. We followed up the patients and evaluated safety profile and effectiveness of adalimumab for the treatment of intestinal BD through 100 weeks rolled over from the 52 week clinical trial (NCT01243671.Methods: Patients initiated adalimumab therapy at 160 mg at week 0, followed by 80 mg at week 2, followed by 40 mg every other week until the end of the study. Long-term safety and all adverse events (AEs were examined. The efficacy was assessed on the basis of marked improvement (MI and complete remission (CR using a composite efficacy index, which combined global gastrointestinal symptoms and endoscopic assessments.Results: Twenty patients were enrolled in this study; 15 patients received adalimumab treatment until study completion. The incidence of AEs through week 100 was 544.4 events/100 person-years, which was comparable to the incidence through week 52 (560.4 events/100 person-years. No unexpected trend was observed and adalimumab was well tolerated. At weeks 52 and 100, 60.0% and 40.0% of patients showed MI, respectively, and 20.0% and 15.0% of patients showed CR, respectively.Conclusions: This report demonstrates 2 years safety and effectiveness of adalimumab in intestinal BD patients. Patients with intestinal BD refractory to conventional treatment receiving up to 2 years of adalimumab treatment demonstrated safety outcomes consistent with the known profile of adalimumab, and the treatment led to sustained reduction of clinical and endoscopic disease activity.

  3. Long-term Course of Alzheimer Disease in Patients Treated According to the Dutch Dementia Guideline at a Memory Clinic A "Real-Life" Study

    NARCIS (Netherlands)

    Droogsma, Erika; van Asselt, Dieneke; van Steijn, Jolanda; Diekhuis, Marjolein; Veeger, Nic; De Deyn, Peter P.

    2016-01-01

    Introduction:There is little knowledge of the long-term course of Alzheimer disease (AD) in light of current pharmacological and nonpharmacological interventions provided in a real-life setting.Methods:The Frisian Alzheimer's Disease Cohort study is a real-life study of the course of AD in patients

  4. A short-term increase in cancer risk associated with daytime napping is likely to reflect pre-clinical disease: prospective cohort study.

    Science.gov (United States)

    Cairns, B J; Travis, R C; Wang, X-S; Reeves, G K; Green, J; Beral, V

    2012-07-24

    Sleep disturbance, a correlate of which is daytime napping, has been hypothesised to be associated with risk of breast and other cancers. We estimated relative risks (RR) of breast and other invasive cancers by the reported frequency of daytime napping in a large prospective cohort of middle-aged women in the UK. During an average of 7.4 years of follow-up, 20 058 breast cancers and 31 856 other cancers were diagnosed. Over the first 4 years of follow-up, daytime napping (sometimes/usually vs rarely/never) was associated with slightly increased risks of breast cancer (RR=1.10, 95% CI 1.06-1.15) and of other cancers (RR=1.12, 1.08-1.15), but the RRs decreased significantly with increasing follow-up time (P=0.001 and P=0.01, respectively, for trend). Four or more years after baseline, there was no elevated risk of breast cancer (RR=1.00, 0.96-1.05), and only marginally greater risk of other cancers (RR=1.04, 1.01-1.07). The effect of pre-clinical disease is a likely explanation for the short-term increased risk of breast and other cancers associated with daytime napping. © 2012 Cancer Research UK

  5. Clinical patterns in Parkinson's disease

    NARCIS (Netherlands)

    Rooden, Stephanie Maria van

    2012-01-01

    The clinical heterogeneity of Parkinson’s disease (PD) patients may reflect the existence of subtypes of the disease. PD subtypes have often been defined by a classification according to researcher-specified criteria, such as age-at-onset or predominant clinical motor features. The general objective

  6. Chronic graft-versus-host disease in the rat radiation chimera: I. clinical features, hematology, histology, and immunopathology in long-term chimeras

    International Nuclear Information System (INIS)

    Beschorner, W.E.; Tutschka, P.J.; Santos, G.W.

    1982-01-01

    The clinical features, pathology, and immunopathology of chronic graft-versus-host disease (GVHD) developing in the long-term rat radiation chimera are described. At 6 to 12 months post-transplant, the previously stable ACI/LEW chimeras developed patchy to diffuse severe hair loss and thickened skin folds, and had microscopic features resembling scleroderma, Sjogren's syndrome, and chronic hepatitis. Skin histology showed dermal inflammation and acanthosis with atrophy of the appendages, with progression to dermal sclerosis. The liver revealed chronic hepatitis with bile duct injury and proliferation and periportal piecemeal necrosis. The tongue had considerable submucosal inflammation, muscular necrosis, and atrophy and arteritis. The serous salivary glands, lacrimal glands, and bronchi had lymphocytic inflammation and injury to duct, acinar, and mucosal columnar epithelium. The thymus had lymphocyte depletion of the medulla with prominent epithelium. The spleen and lymph nodes had poorly developed germinal centers but increased numbers of plasma cells. IgM was observed along the basement membrane and around the basal cells of the skin and tongue and along the basement membrane of the bile ducts. IgM was present also in the arteries of the tongue. Immunoglobulins eluted from the skin, cross-reacted with the bile duct epithelium and usually with both ACI and Lewis skin. Increased titers of speckled antinuclear antibodies were present in the serum of rats with chronic (GVHD). Chronic GVHD in the long-term rat radiation chimera is very similar to human chronic GVHD and is a potentially excellent model for autoimmune disorders including scleroderma, Sjorgren's syndrome, and chronic hepatitis

  7. Chronic graft-versus-host disease in the rat radiation chimera: I. clinical features, hematology, histology, and immunopathology in long-term chimeras

    Energy Technology Data Exchange (ETDEWEB)

    Beschorner, W.E.; Tutschka, P.J.; Santos, G.W.

    1982-04-01

    The clinical features, pathology, and immunopathology of chronic graft-versus-host disease (GVHD) developing in the long-term rat radiation chimera are described. At 6 to 12 months post-transplant, the previously stable ACI/LEW chimeras developed patchy to diffuse severe hair loss and thickened skin folds, and had microscopic features resembling scleroderma, Sjogren's syndrome, and chronic hepatitis. Skin histology showed dermal inflammation and acanthosis with atrophy of the appendages, with progression to dermal sclerosis. The liver revealed chronic hepatitis with bile duct injury and proliferation and periportal piecemeal necrosis. The tongue had considerable submucosal inflammation, muscular necrosis, and atrophy and arteritis. The serous salivary glands, lacrimal glands, and bronchi had lymphocytic inflammation and injury to duct, acinar, and mucosal columnar epithelium. The thymus had lymphocyte depletion of the medulla with prominent epithelium. The spleen and lymph nodes had poorly developed germinal centers but increased numbers of plasma cells. IgM was observed along the basement membrane and around the basal cells of the skin and tongue and along the basement membrane of the bile ducts. IgM was present also in the arteries of the tongue. Immunoglobulins eluted from the skin, cross-reacted with the bile duct epithelium and usually with both ACI and Lewis skin. Increased titers of speckled antinuclear antibodies were present in the serum of rats with chronic (GVHD). Chronic GVHD in the long-term rat radiation chimera is very similar to human chronic GVHD and is a potentially excellent model for autoimmune disorders including scleroderma, Sjorgren's syndrome, and chronic hepatitis.

  8. LEBER'S DISEASE. CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    N. N. Maslova

    2013-01-01

    Full Text Available Violation of visual functions and oculomotor frustration develop at 90% of patients with MS. More than a half of patients are transferred by the numerous recurrence of an optical neuritis which is coming to an end with a partial atrophy of optic nerve. For well-timed purpose of pathogenetic treatment differential diagnostics with other diseases, being accompanied an atrophy of an optic nerve, in particular with Leber's disease

  9. Clinical neurogenetics: huntington disease.

    Science.gov (United States)

    Bordelon, Yvette M

    2013-11-01

    Huntington disease (HD) is an autosomal dominant, adult-onset, progressive neurodegenerative disease characterized by the triad of abnormal movements (typically chorea), cognitive impairment, and psychiatric problems. It is caused by an expanded CAG repeat in the gene encoding the protein huntingtin on chromosome 4 and causes progressive atrophy of the striatum as well as cortical and other extrastriatal structures. Genetic testing has been available since 1993 to confirm diagnosis in affected adults and for presymptomatic testing in at-risk individuals. This review covers HD signs, symptoms, and pathophysiology; current genetic testing issues; and current and future treatment strategies. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. Clinical Reasoning Terms Included in Clinical Problem Solving Exercises?

    Science.gov (United States)

    Musgrove, John L; Morris, Jason; Estrada, Carlos A; Kraemer, Ryan R

    2016-05-01

    Background Published clinical problem solving exercises have emerged as a common tool to illustrate aspects of the clinical reasoning process. The specific clinical reasoning terms mentioned in such exercises is unknown. Objective We identified which clinical reasoning terms are mentioned in published clinical problem solving exercises and compared them to clinical reasoning terms given high priority by clinician educators. Methods A convenience sample of clinician educators prioritized a list of clinical reasoning terms (whether to include, weight percentage of top 20 terms). The authors then electronically searched the terms in the text of published reports of 4 internal medicine journals between January 2010 and May 2013. Results The top 5 clinical reasoning terms ranked by educators were dual-process thinking (weight percentage = 24%), problem representation (12%), illness scripts (9%), hypothesis generation (7%), and problem categorization (7%). The top clinical reasoning terms mentioned in the text of 79 published reports were context specificity (n = 20, 25%), bias (n = 13, 17%), dual-process thinking (n = 11, 14%), illness scripts (n = 11, 14%), and problem representation (n = 10, 13%). Context specificity and bias were not ranked highly by educators. Conclusions Some core concepts of modern clinical reasoning theory ranked highly by educators are mentioned explicitly in published clinical problem solving exercises. However, some highly ranked terms were not used, and some terms used were not ranked by the clinician educators. Effort to teach clinical reasoning to trainees may benefit from a common nomenclature of clinical reasoning terms.

  11. Clinical heterogeneity in newly diagnosed Parkinson's disease

    NARCIS (Netherlands)

    Post, Bart; Speelman, Johannes D.; de Haan, Rob J.

    2008-01-01

    OBJECTIVE: To determine clinical heterogeneity in newly diagnosed Parkinson's disease using cluster analysis and to describe the subgroups in terms of impairment, disability, perceived quality of life, and use of dopaminergic therapy. METHODS: We conducted a k-means cluster analysis in a prospective

  12. Clinical heterogeneity in Fabry disease

    Directory of Open Access Journals (Sweden)

    G. N. Salogub

    2015-01-01

    Full Text Available Fabry disease is an X-linked, lysosomal storage disease (OMIM: 301500, caused by α-galactosidase A deficiency, resulting in accumulation of its substrates, glycosphingolipids, primarily – globotriaosylceramide, in the lysosomes of multiple cell types with multi-system clinical manifestations, even within the same family, including abnormalities of the central and peripheral nervous system, kidneys, heart, gastrointestinal tract, lungs, organ of vision. Clinical heterogeneity is often the reason of the delayed diagnosis. Nowadays enzyme replacement therapy has proved its efficiency in the treatment of Fabry disease. Including Fabry disease in the differential diagnosis of a large range of disorders is important because of its wide clinical heterogeneity and the possibility of an earlier intervention with a beneficial treatment.

  13. Trichinella infection and clinical disease

    DEFF Research Database (Denmark)

    Clausen, M R; Meyer, C N; Krantz, T

    1996-01-01

    Trichinellosis is caused by ingestion of insufficiently cooked meat contaminated with infective larvae of Trichinella species. The clinical course is highly variable, ranging from no apparent infection to severe and even fatal disease. We report two illustrative cases of trichinellosis. Returning....... Life-threatening cardiopulmonary, renal and central nervous system complications developed. The patient recovered after several months. Her husband, who also ate the pork, did not have clinical symptoms, but an increased eosinophil count and a single larva in a muscle biopsy confirmed infection....... The epidemiology, clinical manifestations, diagnosis, treatment and prevention of trichinellosis are reviewed....

  14. Long-term Course of Alzheimer Disease in Patients Treated According to the Dutch Dementia Guideline at a Memory Clinic: A "Real-Life" Study.

    Science.gov (United States)

    Droogsma, Erika; van Asselt, Dieneke; van Steijn, Jolanda; Diekhuis, Marjolein; Veeger, Nic; De Deyn, Peter P

    2016-01-01

    There is little knowledge of the long-term course of Alzheimer disease (AD) in light of current pharmacological and nonpharmacological interventions provided in a "real-life" setting. The Frisian Alzheimer's Disease Cohort study is a "real-life" study of the course of AD in patients (n=576) treated with pharmacological (ie, cholinesterase inhibitors) and nonpharmacological (ie, case management, respite care) interventions. Disease course was described by changes in cognition (Mini Mental State Examination, clock-drawing test) and number of types of professional care applying a repeated-measures analysis using a marginal model (population-based average model). In addition, behavioral and psychological symptoms, and proportions of nursing home admissions and deaths were investigated. During 3.5 years, the average Mini Mental State Examination decreased from 22.24 to 18.91, the clock-drawing test score increased from 3.38 to 4.05, the number of types of professional care increased from 0.85 to 2.64, and the patients with behavioral and psychological symptoms increased from 29.0% to 70.2%. The proportion of patients admitted to a nursing home was 40.8% and 41.0% died. Cognition and behaviour of AD patients deteriorated accompanied with an increase in care-dependency during 3.5 years. Nevertheless, compared with the precholinesterase inhibitor era, current pharmacological and nonpharmacological interventions appear to slow cognitive decline, which emphasizes that they seem to have a favorable effect.

  15. [The shor-term clinical outcomes and safety of extreme lateral interbody fusion combined with percutaneous pedicle screw fixation for the treatment of degenerative lumbar disease].

    Science.gov (United States)

    Hu, Xu-Dong; Ma, Wei-Hu; Jiang, Wei-Yu; Ruan, Chao-Yue; Chen, Yun-Lin

    2017-02-25

    To evaluate the early efficacy and safety of extreme lateral interbody fusion (XLIF) combined with percutaneous pedicle screw fixation for lumbar degenerative disease. From January 2013 to June 2014, 13 patients with degenerative lumbar disease were treated with XLIF combined with percutaneous pedicle screw fixation, including 8 cases of lumbar instability, 5 cases of mild to moderate lumbar spondylolisthesis;there were 5 males and 8 females, aged from 56 to 73 years with an average of 62.1 years. All patients were single segment fusion. Operation time, perioperative bleeding and perioperative complications were recorded. Visual analogue scale (VAS) and Oswestry Disability Index (ODI) were used to evaluate the clinical efficacy. Interbody fusion rate was observed and the intervertebral foramen area changes were compared preoperation and postoperation by X-rays and CT scanning. The mean operation time and perioperative bleeding in the patients respectively was(62.8±5.2) min and(82.5±22.6) ml. One case occurred in the numbness of femoribus internus and 1 case occurred in the muscle weakness of hip flexion after operation, both of them recovered within 2 weeks. All the patients were followed up from 12 to 19 months with an average of 15.6 months. VAS was decreased from preoperative 7.31±0.75 to 2.31±0.75 at final follow-up( P degenerative disease.

  16. Long-term follow-up of ventilator treated low birthweight infants. I. Chest X-ray, pulmonary mechanics, clinical lung disease and growth.

    Science.gov (United States)

    Lindroth, M; Mortensson, W

    1986-09-01

    Chest X-ray, pulmonary mechanics, clinical lung disease and growth were studied in 48 low birthweight infants surviving after ventilator treatment in the neonatal period. Bronchopulmonary dysplasia (BPD) was present in 14 infants shortly after weaning off ventilator. At 4 to 6 years of age most patients had normal chest radiographs but 13 still showed signs of pulmonary fibrosis and hyperinflation. Most patients had low dynamic compliance and high pulmonary resistance shortly after ventilator treatment. All but 8, however, had normal findings at 1 to 1 1/2 years of age. Pneumonias and bronchitis were common during the first two years but thereafter declined in frequency. Weight and length development were retarded for BPD patients during the first two years and for non-BPD patients for the first year. Both groups had a complete catch-up.

  17. Early-stage [123I]β-CIT SPECT and long-term clinical follow-up in patients with an initial diagnosis of Parkinson's disease

    International Nuclear Information System (INIS)

    Stoffers, Diederick; Booij, Jan; Bosscher, Lisette; Winogrodzka, Ania; Wolters, Erik C.; Berendse, Henk W.

    2005-01-01

    Previous studies using dopamine transporter single-photon emission computed tomography (SPECT) to try and distinguish between patients with idiopathic Parkinson's disease (IPD) and patients with atypical parkinsonian syndromes (APS) have mainly focussed on patients with an already established clinical diagnosis of several years' duration. Differences in the pattern of striatal involvement between IPD and APS have been found in only few studies. We hypothesized that distinguishing SPECT features might be most pronounced at an early disease stage, and the purpose of the present study was to investigate this hypothesis. The study included 72 patients with an initial clinical diagnosis of IPD, supported by decreased striatal [ 123 I]β-CIT binding on baseline SPECT. In ten patients, the diagnosis was changed to APS over a mean follow-up period of 62 months. We retrospectively compared the patterns of striatal involvement on the baseline SPECT scans between the group of patients (re)diagnosed with APS and the remaining 62 patients in whom a diagnosis of IPD was maintained. In the group of patients with APS, baseline [ 123 I]β-CIT binding in both caudate nuclei was lower than in the group of patients with IPD. In addition, putamen to caudate binding ratios were higher in the group of APS patients. In spite of these differences, individual binding values showed considerable overlap between the groups. [ 123 I]β-CIT SPECT scanning in early-stage, untreated parkinsonian patients revealed a relative sparing of the caudate nucleus in patients with IPD as compared to patients later (re)diagnosed with APS. Nevertheless, the pattern of striatal involvement appears to have little predictive value for a later re-diagnosis of APS in individual cases. (orig.)

  18. Neuro degenerative diseases: clinical concerns

    International Nuclear Information System (INIS)

    Ibanez, V.

    2005-01-01

    Idiopathic Parkinson's disease (PD) and Alzheimer's disease (AD) are the main neuro-degenerative diseases (NDDs) seen clinically. They share some common clinical symptoms and neuro-pathological findings. The increase of life expectancy in the developed countries will inevitably contribute to enhance the prevalence of these diseases. Behavioral disorders, common in NDDs, will produce major care management challenges. Idiopathic Parkinson's disease corresponds to a histopathological diagnosis, based on the observation of a de-pigmentation and a neuronal loss in the substantia nigra, as well as on the presence of intra-neuronal inclusion bodies. AD is insidious with slowly progressive dementia in which the decline in memory constitutes the main complaint. The diagnosis of definite AD requires the presence of clinical criteria as well as the histopathological confirmation of brain lesions. The two main lesions are the presence of senile plaques and neuro-fibrillary tangles. Positron emission tomography (PET) explores cerebral metabolism and neurotransmitter kinetics in NDDs using principally [ 18 F]-deoxyglucose and [ 18 F]-dopa. Nigrostriatal dopaminergic function is altered in PD, as evidenced by the low uptake of [ 18 F]-dopa in the posterior putamen as compared to anterior putamen and caudate nucleus. In contrast, [ 18 F]-dopa uptake is equally depressed in all striatal structures in progressive supra-nuclear palsy. Regional glucose metabolism at rest is preserved in elderly once cerebral atrophy is taken into account. On the contrary, glucose metabolism is globally reduced in AD, with marked decrease in the parietal and temporal regions. PET has proved to be useful to study in vivo neurochemical processes in patients suffering from NDDs. The potential of this approach is still largely unexploited, and depends on new ligand production to establish early diagnosis and treatment follow-up. (author)

  19. Long-term symptom control of gastro-oesophageal reflux disease 12 years after laparoscopic Nissen or 180° anterior partial fundoplication in a randomized clinical trial.

    Science.gov (United States)

    Roks, D J; Broeders, J A; Baigrie, R J

    2017-06-01

    Laparoscopic 180° anterior fundoplication has been shown to achieve similar reflux control to Nissen fundoplication, with fewer side-effects, up to 5 years. However, there is a paucity of long-term follow-up data on this technique and antireflux surgery in general. This study reports 12-year outcomes of a double-blind RCT comparing laparoscopic Nissen versus 180° laparoscopic anterior fundoplication for gastro-oesophageal reflux disease (GORD). Patients with proven GORD were randomized to laparoscopic Nissen or 180° anterior fundoplication. The 12-year outcome measures included reflux control, dysphagia, gas-related symptoms and patient satisfaction. Measures included scores on a visual analogue scale, a validated Dakkak score for dysphagia and Visick scores. Of the initial 163 patients randomized (Nissen 84, anterior 79), 90 (55·2 per cent) completed 12-year follow-up (Nissen 52, anterior 38). There were no differences in heartburn, dysphagia, gas-related symptoms, patient satisfaction or surgical reintervention rate. Use of acid-suppressing drugs was less common after Nissen than after 180° anterior fundoplication: four of 52 (8 per cent) and 11 of 38 (29 per cent) respectively (P = 0·008). The proportion of patients with absent or only mild symptoms was slightly higher after Nissen fundoplication: 45 of 50 (90 per cent) versus 28 of 38 (74 per cent) (P = 0·044). The two surgical procedures provided similar control of heartburn and post-fundoplication symptoms, with similar patient satisfaction and reoperation rates on long-term follow-up. © 2017 BJS Society Ltd Published by John Wiley & Sons Ltd.

  20. Huntington's disease: a clinical review

    Directory of Open Access Journals (Sweden)

    Roos Raymund AC

    2010-12-01

    Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

  1. Analyzing rare diseases terms in biomedical terminologies

    Directory of Open Access Journals (Sweden)

    Erika Pasceri

    2012-03-01

    Full Text Available Rare disease patients too often face common problems, including the lack of access to correct diagnosis, lack of quality information on the disease, lack of scientific knowledge of the disease, inequities and difficulties in access to treatment and care. These things could be changed by implementing a comprehensive approach to rare diseases, increasing international cooperation in scientific research, by gaining and sharing scientific knowledge about and by developing tools for extracting and sharing knowledge. A significant aspect to analyze is the organization of knowledge in the biomedical field for the proper management and recovery of health information. For these purposes, the sources needed have been acquired from the Office of Rare Diseases Research, the National Organization of Rare Disorders and Orphanet, organizations that provide information to patients and physicians and facilitate the exchange of information among different actors involved in this field. The present paper shows the representation of rare diseases terms in biomedical terminologies such as MeSH, ICD-10, SNOMED CT and OMIM, leveraging the fact that these terminologies are integrated in the UMLS. At the first level, it was analyzed the overlap among sources and at a second level, the presence of rare diseases terms in target sources included in UMLS, working at the term and concept level. We found that MeSH has the best representation of rare diseases terms.

  2. Ovarian Suppression With Triptorelin During Adjuvant Breast Cancer Chemotherapy and Long-term Ovarian Function, Pregnancies, and Disease-Free Survival: A Randomized Clinical Trial.

    Science.gov (United States)

    Lambertini, Matteo; Boni, Luca; Michelotti, Andrea; Gamucci, Teresa; Scotto, Tiziana; Gori, Stefania; Giordano, Monica; Garrone, Ornella; Levaggi, Alessia; Poggio, Francesca; Giraudi, Sara; Bighin, Claudia; Vecchio, Carlo; Sertoli, Mario Roberto; Pronzato, Paolo; Del Mastro, Lucia

    Whether the administration of luteinizing hormone-releasing hormone analogues (LHRHa) during chemotherapy is a reliable strategy to preserve ovarian function is controversial owing to both the lack of data on long-term ovarian function and pregnancies and the safety concerns about the potential negative interactions between endocrine therapy and chemotherapy. To evaluate long-term results of LHRHa-induced ovarian suppression during breast cancer chemotherapy. Parallel, randomized, open-label, phase 3 superiority trial conducted at 16 Italian sites. Between October 2003 and January 2008, 281 premenopausal women with stage I to III hormone receptor-positive or hormone receptor-negative breast cancer were enrolled. Last annual follow-up was June 3, 2014. Patients were randomized to receive adjuvant or neoadjuvant chemotherapy alone (control group) or chemotherapy plus triptorelin (LHRHa group). The primary planned end point was incidence of chemotherapy-induced early menopause. Post hoc end points were long-term ovarian function (evaluated by yearly assessment of menstrual activity and defined as resumed by the occurrence of at least 1 menstrual cycle), pregnancies, and disease-free survival (DFS). A total of 281 women (median age, 39 [range, 24-45] years) were randomized. Median follow-up was 7.3 years (interquartile range, 6.3-8.2 years). The 5-year cumulative incidence estimate of menstrual resumption was 72.6% (95% CI, 65.7%-80.3%) among the 148 patients in the LHRHa group and 64.0% (95% CI, 56.2%-72.8%) among the 133 patients in the control group (hazard ratio [HR], 1.28 [95% CI, 0.98-1.68]; P = .07; age-adjusted HR, 1.48 [95% CI, 1.12-1.95]; P = .006). Eight pregnancies (5-year cumulative incidence estimate of pregnancy, 2.1% [95% CI, 0.7%-6.3%]) occurred in the LHRHa group and 3 (5-year cumulative incidence estimate of pregnancy, 1.6% [95% CI, 0.4%-6.2%]) in the control group (HR, 2.56 [95% CI, 0.68-9.60]; P = .14; age-adjusted HR, 2.40 [95% CI, 0

  3. Predicting Long-term Ischemic Events Using Routine Clinical Parameters in Patients with Coronary Artery Disease: The OPT-CAD Risk Score.

    Science.gov (United States)

    Han, Yaling; Chen, Jiyan; Qiu, Miaohan; Li, Yi; Li, Jing; Feng, Yingqing; Qiu, Jian; Meng, Liang; Sun, Yihong; Tao, Guizhou; Wu, Zhaohui; Yang, Chunyu; Guo, Jincheng; Pu, Kui; Chen, Shaoliang; Wang, Xiaozeng

    2018-06-05

    The prognosis of patients with coronary artery disease (CAD) at hospital discharge was constantly varying, and post-discharge risk of ischemic events remain a concern. However, risk prediction tools to identify risk of ischemia for these patients has not yet been reported. We sought to develop a scoring system for predicting long-term ischemic events in CAD patients receiving antiplatelet therapy that would be beneficial in appropriate personalized decision-making for these patients. In this prospective Optimal antiPlatelet Therapy for Chinese patients with Coronary Artery Disease (OPT-CAD, NCT01735305) registry, a total of 14,032 patients with CAD receiving at least one kind of antiplatelet agent were enrolled from 107 centers across China, from January 2012 to March 2014. The risk scoring system was developed in a derivation cohort (enrolled initially 10,000 patients in the database) using a logistic regression model and was subsequently tested in a validation cohort (the last 4,032 patients). Points in risk score was assigned based on the multivariable odds ratio of each factor. Ischemic events were defined as the composite of cardiac death, myocardial infarction or stroke. Ischemic events occurred in 342 (3.4%) patients in the derivation cohort and 160 (4.0%) patients in the validation cohort during 1-year follow-up. The OPT-CAD score, ranging from 0-257 points, consist of 10 independent risk factors, including age (0-71 points), heart rates (0-36 points), hypertension (0-20 points), prior myocardial infarction (16 points), prior stroke (16 points), renal insufficient (21 points), anemia (19 points), low ejection fraction (22 points), positive cardiac troponin (23 points) and ST-segment deviation (13 points). In predicting 1-year ischemic events, the area under receiver operating characteristics curve were 0.73 and 0.72 in derivation and validation cohort, respectively. The incidences of ischemic events in low- (0-90 points), medium- (91-150 points) and

  4. Clinical investigation in Wilson's disease

    International Nuclear Information System (INIS)

    Mizutani, Naoki; Maehara, Mitsuo; Negoro, Tamiko; Watanabe, Kazuyoshi

    1983-01-01

    Wilson's disease of cerebral type with a chief complaint of tremor occurred in 3 brothers and sisters of a certain family line. Treatment with D-penicillamine produced remarkable clinical improvement as shown by the disappearance of tremor and Kayser-Fleischer ring. Cranial CT scans made before the treatment revealed abnormal findings such as low density areas in the (bilateral) thalamus and the lenticular nucleus, atrophy of the cerebral cortex, and enlargement of the ventricles. After the treatment, cranial CT revealed that the low density areas in the thalamus and the lenticular nucleus disappeared corresponding to the clinical improvement. However, the atrophy of the cerebral cortex and the enlargement of the ventricles were not ameliorated. (Ueda, J.)

  5. Clinical trials with rasagiline: evidence for short-term and long-term effects.

    Science.gov (United States)

    Siderowf, Andrew; Stern, Matthew

    2006-05-23

    Rasagiline (N-propargyl-1 (R)-aminoindan) is a selective, potent irreversible inhibitor of MAO-B that possesses neuroprotective and anti-apoptotic properties in a variety of in vitro and in vivo animal models relevant to Parkinson's disease (PD). Several randomized controlled clinical trials have demonstrated the safety and efficacy of rasagiline as monotherapy in PD and as adjunctive therapy for patients receiving levodopa. In addition, the 1-year randomized, delayed-start analysis of the TEMPO study suggests that rasagiline may slow the rate of progression of PD. The randomized delayed-start paradigm has potential to differentiate short-term symptomatic effects from long-term effects of anti-parkinsonian agents. In the future, long-term trials to examine the potential disease-modifying effects of rasagiline, which incorporate biological markers as well as clinical endpoints, may further elucidate the role of rasagiline in the treatment of both early and advanced PD.

  6. The LIBERTY study: Design of a prospective, observational, multicenter trial to evaluate the acute and long-term clinical and economic outcomes of real-world endovascular device interventions in treating peripheral artery disease.

    Science.gov (United States)

    Adams, George L; Mustapha, Jihad; Gray, William; Hargus, Nick J; Martinsen, Brad J; Ansel, Gary; Jaff, Michael R

    2016-04-01

    Most peripheral artery disease (PAD) clinical device trials are supported by commercial manufacturers and designed for regulatory device approval, with extensive inclusion/exclusion criteria to support homogeneous patient populations. High-risk patients with advanced disease, including critical limb ischemia (CLI), are often excluded leading to difficulty in translating trial results into real-world clinical practice. As a result, physicians have no direct guidance regarding the use of endovascular devices. There is a need for objectively assessed studies to evaluate clinical, functional, and economic outcomes in PAD patient populations. LIBERTY is a prospective, observational, multicenter study sponsored by Cardiovascular Systems Inc (St Paul, MN) to evaluate procedural and long-term clinical and economic outcomes of endovascular device interventions in patients with symptomatic lower extremity PAD. Approximately 1,200 patients will be enrolled and followed up to 5 years: 500 patients in the "Claudicant Rutherford 2-3" arm, 600 in the "CLI Rutherford 4-5" arm, and 100 in the "CLI Rutherford 6" arm. The study will use 4 core laboratories for independent analysis and will evaluate the following: procedural and lesion success, rates of major adverse events, duplex ultrasound interpretations, wound status, quality of life, 6-minute walk test, and economic analysis. The LIBERTY Patient Risk Score(s) will be developed as a clinical predictor of outcomes to provide guidance for interventions in this patient population. LIBERTY will investigate real-world PAD patients treated with endovascular revascularization with rigorous study guidelines and independent oversight of outcomes. This study will provide observational, all-comer patient clinical data to guide future endovascular therapy. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  7. Pituitary diseases : long-term psychological consequences

    NARCIS (Netherlands)

    Tiemensma, Jitske

    2012-01-01

    Nowadays, pituitary adenomas can be appropriately treated, but patients continue to report impaired quality of life (QoL) despite long-term remission or cure. In patients with Cushing’s disease, Cushing’s syndrome or acromegaly, doctors should be aware of subtle cognitive impairments and the

  8. Clinical studies on thyroid diseases

    NARCIS (Netherlands)

    Eskes, S.A.

    2014-01-01

    This thesis focuses on some aspects of thyroid disease: prevention of autoimmune thyroid disease (AITD), diagnosis of related conditions as autoimmune hypophysitis in autoimmune hypothyroidism (Hashimoto’s disease), and treatment of amiodarone-induced thyrotoxicosis (AIT).

  9. Renal histomorphology in dogs with pyometra and control dogs, and long term clinical outcome with respect to signs of kidney disease

    Directory of Open Access Journals (Sweden)

    Teige Jon

    2007-05-01

    Full Text Available Abstract Background Age-related changes in renal histomorphology are described, while the presence of glomerulonephritis in dogs with pyometra is controversial in current literature. Methods Dogs with pyometra were examined retrospectively for evidence of secondary renal damage and persisting renal disease through two retrospective studies. In Study 1, light microscopic lesions of renal tissue were graded and compared in nineteen dogs with pyometra and thirteen age-matched control bitches. In Study 2, forty-one owners of dogs with pyometra were interviewed approximately 8 years after surgery for evidence ofclinical signs of renal failure in order to document causes of death/euthanasia. Results Interstitial inflammation and tubular atrophy were more pronounced in dogs with pyometra than in the control animals. Glomerular lesions classified as glomerular sclerosis were present in both groups. No unequivocal light microscopic features of glomerulonephritis were observed in bitches in any of the groups. Two bitches severely proteinuric at the time of surgery had developed end stage renal disease within 3 years. In five of the bitches polyuria persisted after surgery. Most bitches did not show signs of kidney disease at the time of death/euthanasia. Conclusion Tubulointerstitial inflammation was observed, but glomerular damage beyond age-related changes could not be demonstrated by light microscopy in the dogs with pyometra. However, severe proteinuria after surgery may predispose to development of renal failure.

  10. Long term results of mantle irradiation(MRT) alone in 261 patients with clinical stage I-II supradiaphragmatic Hodgkin's disease

    International Nuclear Information System (INIS)

    Wirth, A.; Byram, D.; Chao, M.; Corry, J.; Davis, S.; Kiffer, J.; Laidlaw, C.; Quong, G.; Ryan, G.; Liew, K.

    1997-01-01

    Purpose: We report our results using MRT for clinical stage I-II HD and assess the value of published prognostic criteria in our study population. Pts and Methods: Between 1969 and 1994, 261 pts were treated with MRT alone for clinical stage I-II supradiaphragmatic HD. Pt characteristics: median age-30; M-54%/F-46%; stage IA-52%, IB-2%, IIA-37%, IIB-8%; histology LP-21%, NS-51%, MC-23%, other 5%; median ESR 18. CT abdomen and LAG were performed in 61% and 60% respectively. No pt had prior staging laparotomy. No pt received infradiaphragmatic RT. Central axis dose was 32 Gy-36 Gy. Univariate analysis was performed for prognostic factors for progression-free (PFS) and overall survival(OS). Outcome was assessed in favourable subsets as defined by: EORTC (v. favourable: CSIA, LP or NS histology, age < 40, female, no bulk, ESR < 50; favourable: CSI-II, age < 50, < 4 sites, no bulky mediastinal mass, ESR < 50 with no B symptoms or ESR < 30 with B symptoms); Princess Margaret Hospital (PMH) (IA-IIA, LP or NS histology, ESR < 40, age < 50, no large mediastinal mass, no E lesion). Results: 261 pts completed RT, with 5% requiring treatment interruption for toxicity. Significant factors (P<0.05) for PFS were stage, performance status, histology, B symptoms, number of sites, ESR and bulk. Significant factors (P<0.05) for OS were age, performance status, histology and B symptoms. (The results of a multivariate analysis will be presented.) Results in our study population using published prognostic criteria (in %): Thirty-six percent progressed following RT: 8% in-field; 24% out of field only (including 10% in the paraaortic/splenic region alone); 4% marginal; Fifty-seven percent of relapsed pts remain progression free after subsequent salvage treatment. Two cases of acute leukaemia, 8 cases of non-Hodgkin's lymphoma and 14 (non-skin) carcinomas occurred, of which 11 were in-field. Seventy pts have died. The cause was: HD 41%; other malignancy 20%; cardiovascular 17%; other 15

  11. Short term clinical disease progression in HIV-1 positive patients taking combination antiretroviral therapy : The EuroSIDA risk-score

    DEFF Research Database (Denmark)

    Mocroft, A; Ledergerber, B; Zilmer, K

    2007-01-01

    /death in patients taking cART. A score was derived for 4169 patients from EuroSIDA and validated on 5150 patients from the Swiss HIV Cohort Study (SHCS). RESULTS: In EuroSIDA, 658 events occurred during 22 321 person-years of follow-up: an incidence rate of 3.0/100 person-years of follow-up [95% confidence interval...... (CI), 2.7-3.3]. Current levels of viral load, CD4 cell count, CD4 cell slope, anaemia, and body mass index all independently predicted new AIDS/death, as did age, exposure group, a prior AIDS diagnosis, prior antiretroviral treatment and stopping all antiretroviral drugs. The EuroSIDA risk...... in the risk-score was associated with a 2.70 times higher incidence of clinical progression (95% CI, 2.56-2.84) in EuroSIDA and 2.88 (95% CI, 2.75-3.02) in SHCS. CONCLUSIONS: A clinically relevant prognostic score was derived in EuroSIDA and validated within the SHCS, with good agreement. The EuroSIDA risk...

  12. Infectious Disease Clinical Research Program (IDCRP)

    Data.gov (United States)

    Federal Laboratory Consortium — Our mission is to conduct infectious disease clinical research of importance to the military through a unique, adaptive, and collaborative network, to inform health...

  13. Mapping Nursing language terms of Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Michelle Hyczy de Siqueira Tosin

    2015-06-01

    Full Text Available OBJECTIVE Implementing cross-mapping of Nursing language terms with the terminology of NANDA International, contained in records of patients with Parkinson's disease in rehabilitation. METHOD Descriptive study of cross mapping, carried out in three steps. A simple random sample of 67 files of patients who participated in the rehabilitation in the period between March 2009 and April 2013. RESULTS We identified 454 terms of Nursing language that resulted in 54 diagnoses after cross-mapping, present in 11 of the 13 taxonomy domains. The most mapped diagnosis was "Impaired urinary elimination" (59.7%, followed by "Urgent urinary incontinence" (55.2%, "Willingness to self-control improved health" (50.7%, "Constipation" (47.8% and "Compromised physical mobility" (29.9%. Seven described terms were not mapped due to a corresponding defining characteristic being absent. CONCLUSION It was possible to determine the profile of patients, as well as the complexity of nursing care in the rehabilitation of patients with Parkinson's disease.

  14. Clinical manifestations of small vessel disease

    NARCIS (Netherlands)

    Kooistra, M.

    2014-01-01

    Cardiovascular disease is a major health problem worldwide. However, the mortality risk in patients with cardiovascular disease has decreased due to early detection of the disease and improved treatment possibilities. The downside of increased survival rates are higher rates of long-term functional

  15. Clinical observation of radiation urinary bladder disease

    International Nuclear Information System (INIS)

    Jin Yuke; Liu Libo; Zhang Haiying; Liang Shuo; Chen Dawei; Wu Zhenfeng; Dong Lihua; Lu Xuejun

    2004-01-01

    Objective: Clinical characteristic, diagnosis and treatment of radiation urinary bladder disease induced by radiation therapy for cancers in the pelvis were inquired into for providing diagnostic basis. Methods: Statistical analysis for the clinical cases was carried out. Results: The incidence of radiation bladder diseases induced by radiation therapy of cervix cancer are about 0.8%-2.96%, with an average of 2.14%. Radiation bladder disease is divided into acute radiation cystitis, chronic radiation cystitis and radiation vesical fistula. Chronic radiation cystitis is seen most often in the clinic and its main clinical symptom is painless macroscopic hematuria, which is again subdivided into slight and severe degrees. Diagnosis should include history of exposure to radiation, which dose exceed the dose threshold, and typical clinical characteristics. Conclusion: The characteristics, types and diagnostic basis of radiation urinary bladder disease analyzed in this study can provide the reference for drawing up diagnostic standard

  16. Clinical presentation of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  17. Clinical and Histologic Mimickers of Celiac Disease.

    Science.gov (United States)

    Kamboj, Amrit K; Oxentenko, Amy S

    2017-08-17

    Celiac disease is an autoimmune disorder of the small bowel, classically associated with diarrhea, abdominal pain, and malabsorption. The diagnosis of celiac disease is made when there are compatible clinical features, supportive serologic markers, representative histology from the small bowel, and response to a gluten-free diet. Histologic findings associated with celiac disease include intraepithelial lymphocytosis, crypt hyperplasia, villous atrophy, and a chronic inflammatory cell infiltrate in the lamina propria. It is important to recognize and diagnose celiac disease, as strict adherence to a gluten-free diet can lead to resolution of clinical and histologic manifestations of the disease. However, many other entities can present with clinical and/or histologic features of celiac disease. In this review article, we highlight key clinical and histologic mimickers of celiac disease. The evaluation of a patient with serologically negative enteropathy necessitates a carefully elicited history and detailed review by a pathologist. Medications can mimic celiac disease and should be considered in all patients with a serologically negative enteropathy. Many mimickers of celiac disease have clues to the underlying diagnosis, and many have a targeted therapy. It is necessary to provide patients with a correct diagnosis rather than subject them to a lifetime of an unnecessary gluten-free diet.

  18. Lyme disease: clinical diagnosis and treatment

    Science.gov (United States)

    Hatchette, TF; Davis, I; Johnston, BL

    2014-01-01

    Background Lyme disease is an emerging zoonotic infection in Canada. As the Ixodes tick expands its range, more Canadians will be exposed to Borrelia burgdorferi, the bacterium that causes Lyme disease. Objective To review the clinical diagnosis and treatment of Lyme disease for front-line clinicians. Methods A literature search using PubMed and restricted to articles published in English between 1977 and 2014. Results Individuals in Lyme-endemic areas are at greatest risk, but not all tick bites transmit Lyme disease. The diagnosis is predominantly clinical. Patients with Lyme disease may present with early disease that is characterized by a “bull’s eye rash”, fever and myalgias or with early disseminated disease that can manifest with arthralgias, cardiac conduction abnormalities or neurologic symptoms. Late Lyme disease in North America typically manifests with oligoarticular arthritis but can present with a subacute encephalopathy. Antibiotic treatment is effective against Lyme disease and works best when given early in the infection. Prophylaxis with doxycyline may be indicated in certain circumstances. While a minority of patients may have persistent symptoms, evidence does not demonstrate that prolonged courses of antibiotics improve outcome. Conclusion Clinicians need to be aware of the signs and symptoms of Lyme disease. Knowing the regions where Borrelia infection is endemic in North America is important for recognizing patients at risk and informing the need for treatment. PMID:29769842

  19. Clinical presentation of adult coeliac disease.

    LENUS (Irish Health Repository)

    Tajuddin, T

    2012-02-01

    The mode of presentation of coeliac disease has been changing to more atypical or silent disease. Few studies described the clinical presentation of adult coeliac disease in Ireland in recent years. We retrospectively collected the clinical data for all patients who had a diagnosis of coeliac disease made in our centre between January 07 and December 08. Forty seven adults, predominantly females (n = 30), had a confirmed diagnosis of coeliac disease made during the study period. In our patient cohort, the presenting symptom was diarrhoea in 19 (40%) patients, while 16 patients (34%) did not have any G.I. symptoms, 10 (21%) presented with anaemia. Females presented at a significantly younger age compared to males, with median ages at diagnosis of 44.5 and 57 years, respectively (p = 0.04). Females also presented more commonly with non G.I. symptoms (p = 0.07). The reasons behind this gender difference need further study.

  20. [Lyme disease--clinical manifestations and treatment].

    Science.gov (United States)

    Stock, Ingo

    2016-05-01

    Lyme disease (Lyme borreliosis) is a systemic infectious disease that can present in a variety of clinical manifestations. The disease is caused by a group of spirochaetes--Borrelia burgdorferi sensu lato or Lyme borrelia--that are transmitted to humans by the bite of Ixodes ticks. Lyme disease is the most common arthropode-borne infectious disease in many European countries including Germany. Early localized infection is typically manifested by an erythema migrans skin lesion, in rarer cases as a borrelial lymphocytoma. The most common early disseminated manifestation is (early) neuroborreliosis. In adults, neuroborreliosis appears typically as meningoradiculoneuritis. Neuroborreliosis in children, however, is typically manifested by meningitis. In addition, multiple erythema migrans lesions and Lyme carditis occur relatively frequently. The most common manifestation oflate Lyme disease is Lyme arthritis. Early manifestations (and usually also late manifestations) of Lyme disease can be treated successfully by application of suitable antibacterial agents. For the treatment of Lyme disease, doxycycline, certain penicillins such as amoxicillin and some cephalosporins (ceftriaxone, cefotaxime, cefuroxime axetil) are recommended in current guidelines. A major challenge is the treatment of chronic, non-specific disorders, i. e., posttreatment Lyme disease syndrome and "chronic Lyme disease". Prevention of Lyme disease is mainly accomplished by protecting against tick bites. Prophylactic administration of doxycycline after tick bites is generally not recommended in Germany. There is no vaccine available for human beings.

  1. Long term cardiovascular consequences of chronic lung disease of prematurity.

    Science.gov (United States)

    Poon, Chuen Yeow; Edwards, Martin Oliver; Kotecha, Sailesh

    2013-12-01

    Pulmonary arterial (PA) hypertension in preterm infant is an important consequence of chronic lung disease of prematurity (CLD) arising mainly due to impaired alveolar development and dysregulated angiogenesis of the pulmonary circulation. Although PA pressure and resistance in these children normalise by school age, their pulmonary vasculature remains hyper-reactive to hypoxia until early childhood. Furthermore, there is evidence that systemic blood pressure in preterm born children with or without CLD is mildly increased at school age and in young adulthood when compared to term-born children. Arterial stiffness may be increased in CLD survivors due to increased smooth muscle tone of the pre-resistance and resistance vessels rather than the loss of elasticity in the large arteries. This review explores the long term effects of CLD on the pulmonary and systemic circulations along with their clinical correlates and therapeutic approaches. Copyright © 2012 Elsevier Ltd. All rights reserved.

  2. Paediatric Inflammatory Bowel Disease: Clinical Presentation and Disease Location.

    Science.gov (United States)

    Aziz, Danish Abdul; Moin, Maryum; Majeed, Atif; Sadiq, Kamran; Biloo, Abdul Gaffar

    2017-01-01

    To determine different clinical presentationsand disease location demarcatedby upper and lower gastrointestinal endoscopyand relevant histopathologyin children diagnosed with inflammatory bowel disease (IBD). This is 5 years (2010 to 2015) retrospective studyconducted at the Aga Khan University Hospitalenrolling65admitted children between 6 months to 15years from either gender, diagnosed with IBD on clinical presentation, endoscopy and biopsy. Different clinical presentations at the time of diagnosis were noted in different categories of the disease. All patients underwent upper and lower (up to the terminal ileum) endoscopy with multiple punch biopsies and histologic assessment of mucosal specimens. All endoscopies were done by paediatric gastroenterologists at endoscopy suite of the hospital and all specimens were reported by the pathology department. ESPGHAN revised criteria for the diagnosis of inflammatory bowel disease in children and an adolescent was used to standardize our diagnosis. Extent of disease on endoscopy and relevant histopathology of the biopsy samples were noted at the time of diagnosis. Data was summarized using mean, standard deviation, numbers and percentages for different variables. Total 56 children were enrolled according to inclusion criteria. There were 34children (61.53%) diagnosed with ulcerative colitis (UC), 10 patients (16.92%) had Crohn'sDisease (CD) and 11 (21.53%) patients were labeled as Indeterminate colitis (IC). Mean age at onset of symptoms was10.03±2.44 and mean age at diagnosis was11.10±2.36. Abdominal pain (80%) and chronic diarrhea (70%) were common symptoms in CD whereas bloody diarrhea (79.41%) and rectal bleeding(64.70%)were common presentation in UC. Patients diagnosed with indeterminate colitis(IC) had similar clinical features as in UC patients. Only 7% patients had some extra-intestinal features in the form of joint pain and/or uveitis. Aspartate aminotransferase level (95.18 ±12.89) was relatively high in

  3. AACE/ACE Disease State Clinical Review: Medical Management of Cushing Disease.

    Science.gov (United States)

    Hamrahian, Amir H; Yuen, Kevin C J; Hoffman, Andrew R

    2014-07-01

    To review available medical therapies for patients with Cushing disease and to provide a roadmap for their use in clinical practice. PubMed searches were performed to identify all of the available published data on medical management of Cushing disease. Medical therapy is usually not the first-line treatment for patients with Cushing disease but may be used to improve clinical manifestations of Cushing disease in patients who are not suitable candidates for surgery, following unsuccessful surgery or recurrence, or as a "bridge therapy" in those who have undergone radiotherapy. Medical therapy may also be used in preoperative preparation of patients with severe disease. Current available medical options for patients with Cushing disease include centrally acting agents, steroidogenesis inhibitors, and a glucocorticoid receptor antagonists. At present, there are no head-to-head studies comparing the efficacy, tolerability, and safety of different U.S. Food and Drug Administration (FDA)- and non-FDA-approved drugs in patients with Cushing disease. With the initiation of new studies and the completion of ongoing clinical trials, the number of FDA-approved drugs for medical treatment of Cushing disease is expected to increase. Medical therapy has an important adjunctive role in the management of patients with Cushing disease. The decision to initiate medical treatment depends on many factors, including patient characteristics and preference. Long-term studies are needed to better define the clinical efficacy, safety, and tolerability of medical treatment of Cushing disease, including the role of combination therapies.

  4. Bilingualism delays clinical manifestation of Alzheimer's disease

    OpenAIRE

    Woumans, Evy; Santens, Patrick; Sieben, Anne; Versijpt, Jan; Stevens, Michaël; Duyck, Wouter

    2015-01-01

    The current study investigated the effects of bilingualism on the clinical manifestation of Alzheimer's disease (AD) in a European sample of patients. We assessed all incoming AD patients in two university hospitals within a specified timeframe. Sixty-nine monolinguals and 65 bilinguals diagnosed with probable AD were compared for time of clinical AD manifestation and diagnosis. The influence of other potentially interacting variables was also examined. Results indicated a significant delay f...

  5. A clinical approach to Lyme disease.

    Science.gov (United States)

    Nadelman, R B; Wormser, G P

    1990-05-01

    Lyme disease (also known as Lyme borreliosis) is an emerging, newly described infectious disease with diverse clinical manifestations. The disease is caused by the spirochetal agent Borrelia burgdorferi, which is transmitted to humans by the bite of certain species of Ixodes ticks harboring the organism. The most readily identifiable clinical feature is the distinctive skin lesion, erythema migrans. If recently infected patients go untreated, approximately 15% will develop neurologic conditions (most commonly facial nerve palsy), 8% will develop myocarditis (typically with heart block), and 60% will develop migratory mono- or pauci-articular arthritis. Diagnosis depends on clinical suspicion, recognition of the characteristic signs and symptoms, and appropriate testing for antibody to B. burgdorferi. Serology for Lyme disease, although in need of better standardization, is most useful in diagnosing patients with manifestations of Lyme disease other than erythema migrans. All manifestations of Lyme disease are potentially treatable with either a beta-lactam antibiotic (for instance penicillin, amoxicillin, or ceftriaxone) or a tetracycline preparation. However, the optimal antimicrobial regimen, including choice of drug, drug dose, route of administration, and length of therapy, is unknown. Other important areas for future research include Ixodes biology and control, improved laboratory tests for diagnosis and for assessing response to therapy, and vaccine development.

  6. Clinical pattern of heart diseases in children

    International Nuclear Information System (INIS)

    Ejaz, M.S.; Billoo, A.G.

    2000-01-01

    This study was done to determine various causes and clinical presentation of heart disease in children. It was a prospective hospital study conducted in Department of Pediatrics Civil Hospital, Karachi from August 1995 to February 1996. In this study, 70 patients of heart disease upto 12 years of age were inducted. There were 33 (47.14%) cases of congenital heart diseases and 37 (52.85%) cases of acquired heart diseases. The age distribution showed that heart disease was more frequent between 0-11 months of age (41.42%). Congenital heart diseases were also frequent between 0-11 months (28.57%). On the other hand acquired heart diseases were more common between 6-12 years (22.85%). In this study the males were predominantly involved, the male to female ratio was 1.05:1. In congenital heart disease it was 1.3:1 and in acquired heart diseases it was 0.85:1. Ventricular septal defect was the commonest congenital lesion reported (20%). Rheumatic fever and viral myocarditis were two frequently occurring acquired heart-diseases 17.14% each. The common presentation of heart diseases were respiratory distress (94.28%), fever (90%), feeding difficulty (57.14%) and failure to thrive (34.28%). In case of rheumatic fever, chorea was present in 8.57%, arthritis in 11.42% and S/C nodules (2.85%) cases respectively. The early management of the problem may help in decreasing morbidity and mortality due to these disease in children. Prenatal detection of congenital cardiac lesions by fetal echocardiography in high risk pregnancies, early intervention in neonatal period and counseling of the parents may help in prevention of congenital heart diseases in children. Primary prevention of rheumatic fever can be achieved by early diagnosis and treatment of streptococcal throat infection. (author)

  7. The short- and long-term outcomes of percutaneous intervention with drug-eluting stent vs bare-metal stent in saphenous vein graft disease: An updated meta-analysis of all randomized clinical trials.

    Science.gov (United States)

    Kheiri, Babikir; Osman, Mohammed; Abdalla, Ahmed; Ahmed, Sahar; Bachuwa, Ghassan; Hassan, Mustafa

    2018-05-11

    The use of drug-eluting stents (DES) vs bare-metal stents (BMS) in saphenous vein graft (SVG) lesions remains controversial. We conducted a meta-analysis of all randomized clinical trials comparing the outcomes of DES with BMS in SVG percutaneous coronary interventions. A search of PubMed, Embase, the Cochrane Register of Controlled Trials, and Clinicaltrials.gov was performed for all randomized clinical trials. We evaluated the short- and long-term clinical outcomes of the following: all-cause mortality, major adverse cardiovascular events (MACE), definite/probable stent thrombosis, target lesion revascularization (TLR), and target-vessel revascularization (TVR). From a total of 1582 patients in 6 randomized clinical trials, 797 had DES and 785 had BMS. Patients with DES had lower short-term MACE, TLR, and TVR in comparison with BMS (odds ratio [OR]: 0.56, 95% confidence interval [CI]: 0.35-0.91, P = 0.02; OR: 0.43, 95% CI: 0.19-0.99, P = 0.05; and OR: 0.45, 95% CI: 0.22-0.95, P = 0.04, respectively). However, there were no different outcomes for all-cause mortality (P = 0.63) or stent thrombosis (P = 0.21). With long-term follow-up, there were no significant reductions of MACE (P = 0.20), TLR (P = 0.57), TVR (P = 0.07), all-cause mortality (P = 0.29), and stent thrombosis (P = 0.76). The use of DES in SVG lesions was associated with lower short-term MACE, TLR, and TVR in comparison with BMS. However, there were no significant differences with long-term follow-up. © 2018 Wiley Periodicals, Inc.

  8. Dopaminreceptorscintigraphy in Parkinson's disease - Clinical correlation

    International Nuclear Information System (INIS)

    Riklund Aahlstroem, K.E.; Hietala, S.-O.; Johansson, F.

    2002-01-01

    Parkinson's disease is a severe, progressive neuro degenerative disorder which is characterised by a degeneration of the dopamine containing cells and loss of dopamine transporters (DA) in substantia nigra. Earlier 123 I-β-CIT SPECT studies have demonstrated this loss of DA content in Parkinson's disease. Recently a new radioligand 123 I-FP-CIT, with faster kinetics than b-CIT became available for imaging of the DA transporter. The applicability of this radioligand was tested in a large clinical material with early and advanced Parkinson's disease using a one day protocol. 123 I-FP-CIT uptake was decreased in patients with Parkinson's disease and this was seen three hours after injection of the radioligand. In the Parkinson's disease group the uptake in the putamen was reduced more than in the caudate nucleus. Specific to non-specific striatal uptake ratios correlated with the Hoehn and Yahr stage. It appeared that 123 I-FP-CIT SPECT allows a significant discrimination between patients with Parkinson's disease and other movement disorders. The scintigraphic observations were correlated to clinical findings. The results will be presented and discussed

  9. Subacute Thyroiditis: Clinical Presentation and Long Term Outcome

    Science.gov (United States)

    Alfadda, Assim A.; Sallam, Reem M.; Elawad, Ghadi E.; AlDhukair, Hisham; Alyahya, Mossaed M.

    2014-01-01

    Few studies have been reported from the Kingdom of Saudi Arabia (SA) to describe the clinical presentation and long term outcomes of subacute thyroiditis (SAT). Our aim was to review the demographic, anthropometric, clinical presentation, laboratory results, treatment, and disease outcome in Riyadh region and to compare those with results from different regions of the Kingdom and different parts of the world. We reviewed the medical files of patients who underwent thyroid uptake scan during an 8-year period in King Khalid University Hospital. Only 25 patients had confirmed diagnosis of thyroiditis. Age and gender distribution were similar to other studies. Most patients presented with palpitation, goiter, and weight change. Elevated thyroid hormones, suppressed thyroid-stimulating hormone, and elevated ESR were reported. Among those, 7 cases of SAT were recorded. β-Blockers were prescribed to 57% and nonsteroidal anti-inflammatory drugs to 29% of SAT. Long follow-up demonstrated that 85.7% of SAT cases recovered, while 14.3% developed permanent hypothyroidism. In conclusion, SAT is uncommon in the central region of SA. Compared to the western region, corticosteroid is not commonly prescribed, and permanent hypothyroidism is not uncommon. A nation-wide epidemiological study to explain these interprovincial differences is warranted. PMID:24803929

  10. Recent clinical trials in valvular heart disease.

    Science.gov (United States)

    Kiss, Daniel; Anwaruddin, Saif

    2017-07-01

    With widespread adoption of transcatheter aortic valve replacement, there has been a change in the approach to management of valvular heart disease. New interest has taken hold in transcatheter therapies for valvular heart disease, as well as research into pathophysiology and progression of disease. Additionally, several key trials have further refined our understanding of surgical management of valvular heart disease. This review will elucidate recent clinical trial data leading to changes in practice. There have been several landmark trials expanding the indications for transcatheter aortic valve replacement. Additionally, although still early, trials are beginning to demonstrate the feasibility and safety of transcatheter mitral valves. Options for transcatheter management of right-sided valvular disease continue to evolve, and these are areas of active investigation. The emergence of novel therapies for valvular heart disease has expanded the management options available, allowing physicians to better individualize treatment of patients with valvular heart disease. This review will focus on the recent (within 2 years) trials in this field of interest.

  11. Meningococcal disease, a clinical and epidemiological review.

    Science.gov (United States)

    Batista, Rodrigo Siqueira; Gomes, Andréia Patrícia; Dutra Gazineo, Jorge Luiz; Balbino Miguel, Paulo Sérgio; Santana, Luiz Alberto; Oliveira, Lisa; Geller, Mauro

    2017-11-01

    Meningococcal disease is the acute infection caused by Neisseria meningitidis, which has humans as the only natural host. The disease is widespread around the globe and is known for its epidemical potential and high rates of lethality and morbidity. The highest number of cases of the disease is registered in the semi-arid regions of sub-Saharan Africa. In Brazil, it is endemic with occasional outbreaks, epidemics and sporadic cases occurring throughout the year, especially in the winter. The major epidemics of the disease occurred in Brazil in the 70's caused by serogroups A and C. Serogroups B, C and Y represent the majority of cases in Europe, the Americas and Australia. However, there has been a growing increase in serogroup W in some areas. The pathogen transmission happens for respiratory route (droplets) and clinically can lead to meningitis and sepsis (meningococcemia). The treatment is made with antimicrobial and supportive care. For successful prevention, we have some measures like vaccination, chemoprophylaxis and droplets' precautions. In this review, we have described and clarify clinical features of the disease caused by N. meningitidis regarding its relevance for healthcare professionals. Copyright © 2017 Hainan Medical University. Production and hosting by Elsevier B.V. All rights reserved.

  12. The efficiency of dyslipidemia control in real clinical practice and the possibilities of its correction in patients with coronary heart disease and diabetes mellitus in the long -term use of simvastatin

    Directory of Open Access Journals (Sweden)

    F. Yu. Valikulova

    2014-07-01

    Full Text Available Objective: To show the efficiency of dyslipidemia control in patients with coronary heart disease (CHD and diabetes mellitus (DM in real outpatient clinical practice and the possibilities of its correction in the long-term use of simvastatin (simvastatin forte 40 mg in one of theNizhny Novgorod polyclinics.Subjects and methods. The efficiency of lipid profile control was analyzed in a sample from the entire dispensary group of patients with DM (n = 713. Patients at highest cardiovascular risk were selected from the dispensary group and included into a group of CHD and DM. There were a total of 461 (64.7 % such patients. Forty-three patients were identified in this group, who were matched for baseline systolic and diastolic blood pressures, age, gender, and DM duration and were found to have significant hypercholesterolemia. Simvastatin forte 40 mg wasprescribed to these patients at their outpatient visit. During a year, the patient made 6 visits to his/her physician (5 visits at 6-werk intervals and the sixth visit by the end of the follow-up year. The dose of simvastatin was unchanged throughout the study.Results.In the entire dispensary group, 64.7 % of the patients had a concurrence of CHD and DM. This group of patients was at high risk for dyslipidemia. In this group, 2.8 % had a total cholesterol (TC level of ≤ 3.5 mmol/l; 4.7 % had a low-density lipoprotein cholesterol (LDL-C level of < 1.8 mmol/l. The total lipid profile was analyzed in only 6.3% of the patients from the entire dispensary group. 28.6 % of the patients with type 1 DM and 21.3% of those with CHD and type 2 DM took statins. Fifty-two week therapy with simvastatin forte 40 mg showed its high efficiency in real practice in decreasing the levels of atherogenic lipids and lipoproteins: TC by 27.6 % (p < 0.001, LDL-C by 36.9 % (p < 0.001, and triglycerides by 34.3 % (p < 0.001 with antiatherogenic high-density lipoprotein cholesterol elevation by 15.2 % (p < 0

  13. Nosocomial Legionnaires’ Disease: Clinical and Radiographic Patterns

    Directory of Open Access Journals (Sweden)

    Thomas J Marrie

    1992-01-01

    Full Text Available From 1981 to 1991, 55 patients (33 males, 22 females, mean age 58.6 years with nosocomial Legionnaires’ disease were studied. The mortality rate was 64%. One-half of the patients developed nosocomial Legionnaires’ disease within three weeks of admission. A surprising clinical feature was the low rate of findings of consolidation on physical examination, despite the fact that 52% of patients had this finding on chest radiograph. More than one-half of patients had pre-existing lung disease, rendering a radiographic diagnosis of pneumonia due to Legionella pneumophila impossible in 16% of cases despite microbiological confirmation. Nineteen per cent of patients who had blood cultures done had a pathogen other than L pneumophila isolated, suggesting dual infection in at least some of the patients. When the clinical and radiographic findings were combined it was noted that 40% of patients had one of three patterns suggestive of nosocomial Legionnaires’ disease: rapidly progressive pneumonia, lobar opacity and multiple peripheral opacities. However, in 60% of patients there were no distinctive features.

  14. Comparing Clinical Profiles in Alzheimer's Disease and Parkinson's Disease Dementia

    Directory of Open Access Journals (Sweden)

    Martin R. Farlow

    2013-09-01

    Full Text Available Background: Greater understanding of differences in baseline impairment and disease progression in patients with Alzheimer's disease (AD and Parkinson's disease dementia (PDD may improve the interpretation of drug effects and the design of future studies. Methods: This was a retrospective analysis of three randomized, double-blind rivastigmine databases (one in PDD, two in AD. Impairment on the Alzheimer's Disease Assessment Scale-cognitive subscale (ADAS-cog, Alzheimer's Disease Cooperative Study-Activities of Daily Living (ADCS-ADL scale, 10-item Neuropsychiatric Inventory (NPI-10 and the ADCS-Clinical Global Impression of Change (CGIC was compared [standardized difference (Cohen's d, similar if Results: Patients with AD or PDD had similar levels of impairment on the ADAS-cog and NPI-10. Scores on the ADCS-ADL scale (standardized difference = 0.47 and the ADAS-cog memory domain (total, 0.33; items, 0.10-0.58 were higher in AD; PDD patients were more impaired in the language (0.23 and praxis (0.34 domains. AD patients receiving placebo showed greater deterioration on the ADAS-cog (0.14 and improvement on the NPI-10 (0.11 compared with patients with PDD. Conclusion: Differing patterns of impairment occur in AD and PDD.

  15. Comparing clinical profiles in Alzheimer's disease and Parkinson's disease dementia.

    Science.gov (United States)

    Farlow, Martin R; Schmitt, Frederick; Aarsland, Dag; Grossberg, George T; Somogyi, Monique; Meng, Xiangyi

    2013-01-01

    Greater understanding of differences in baseline impairment and disease progression in patients with Alzheimer's disease (AD) and Parkinson's disease dementia (PDD) may improve the interpretation of drug effects and the design of future studies. This was a retrospective analysis of three randomized, double-blind rivastigmine databases (one in PDD, two in AD). Impairment on the Alzheimer's Disease Assessment Scale-cognitive subscale (ADAS-cog), Alzheimer's Disease Cooperative Study-Activities of Daily Living (ADCS-ADL) scale, 10-item Neuropsychiatric Inventory (NPI-10) and the ADCS-Clinical Global Impression of Change (CGIC) was compared [standardized difference (Cohen's d), similar if <0.1]. Patients with AD or PDD had similar levels of impairment on the ADAS-cog and NPI-10. Scores on the ADCS-ADL scale (standardized difference = 0.47) and the ADAS-cog memory domain (total, 0.33; items, 0.10-0.58) were higher in AD; PDD patients were more impaired in the language (0.23) and praxis (0.34) domains. AD patients receiving placebo showed greater deterioration on the ADAS-cog (0.14) and improvement on the NPI-10 (0.11) compared with patients with PDD. Differing patterns of impairment occur in AD and PDD.

  16. Clinical neurorestorative progress in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Chen L

    2015-06-01

    Full Text Available Lin Chen,1,2 Hongyun Huang,3–5 Wei-Ming Duan,6 Gengsheng Mao3 1Department of Neurosurgery, Yuquan Hospital, Tsinghua University, 2Department of Neurosurgery, Medical Center, Tsinghua University, 3Department of Neurosurgery, General Hospital of Chinese People's Armed Police Forces, 4Center of Cell Research, Beijing Rehabilitation Hospital of Capital Medical University, 5Beijing Hongtianji Neuroscience Academy, 6Department of Anatomy, Capital Medical University, Beijing, People's Republic of China Abstract: Parkinson’s disease (PD is one of the common neurodegenerative diseases. Besides the symptomatic therapies, the increasing numbers of neurorestorative therapies have shown the potential therapeutic value of reversing the neurodegenerative process and improving the patient's quality of life. Currrently available novel clinical neurorestorative strategies include pharmacological managements (glial cell-line derived neurotrophic factor, selegiline, recombinant human erythropoietin, neuromodulation intervention (deep brain stimulation, repetitive transcranial magnetic stimulation, transcranial direct current stimulation, tissue and cell transplantation (fetal ventral mesencephalic tissue, sympathetic neurons, carotid body cells, bone marrow stromal cells, retinal pigment epithelium cells, gene therapy, and neurorehabilitative therapy. Herein, we briefly review the progress in this field and describe the neurorestorative mechanisms of the above-mentioned therapies for PD. Keywords: Parkinson’s disease, clinical study, neurorestorative treatment, cell transplantation, neuromodulation

  17. Short-term memory binding deficits in Alzheimer's disease

    OpenAIRE

    Parra, Mario; Abrahams, S.; Fabi, K.; Logie, R.; Luzzi, S.; Della Sala, Sergio

    2009-01-01

    Alzheimer's disease impairs long term memories for related events (e.g. faces with names) more than for single events (e.g. list of faces or names). Whether or not this associative or ‘binding’ deficit is also found in short-term memory has not yet been explored. In two experiments we investigated binding deficits in verbal short-term memory in Alzheimer's disease. Experiment 1 : 23 patients with Alzheimer's disease and 23 age and education matched healthy elderly were recruited. Participants...

  18. Clinical epidemiology and disease burden of nonalcoholic fatty liver disease

    Science.gov (United States)

    Perumpail, Brandon J; Khan, Muhammad Ali; Yoo, Eric R; Cholankeril, George; Kim, Donghee; Ahmed, Aijaz

    2017-01-01

    Nonalcoholic fatty liver disease (NAFLD) is defined as the presence of hepatic fat accumulation after the exclusion of other causes of hepatic steatosis, including other causes of liver disease, excessive alcohol consumption, and other conditions that may lead to hepatic steatosis. NAFLD encompasses a broad clinical spectrum ranging from nonalcoholic fatty liver to nonalcoholic steatohepatitis (NASH), advanced fibrosis, cirrhosis, and finally hepatocellular carcinoma (HCC). NAFLD is the most common liver disease in the world and NASH may soon become the most common indication for liver transplantation. Ongoing persistence of obesity with increasing rate of diabetes will increase the prevalence of NAFLD, and as this population ages, many will develop cirrhosis and end-stage liver disease. There has been a general increase in the prevalence of NAFLD, with Asia leading the rise, yet the United States is following closely behind with a rising prevalence from 15% in 2005 to 25% within 5 years. NAFLD is commonly associated with metabolic comorbidities, including obesity, type II diabetes, dyslipidemia, and metabolic syndrome. Our understanding of the pathophysiology of NAFLD is constantly evolving. Based on NAFLD subtypes, it has the potential to progress into advanced fibrosis, end-stage liver disease and HCC. The increasing prevalence of NAFLD with advanced fibrosis, is concerning because patients appear to experience higher liver-related and non-liver-related mortality than the general population. The increased morbidity and mortality, healthcare costs and declining health related quality of life associated with NAFLD makes it a formidable disease, and one that requires more in-depth analysis. PMID:29307986

  19. Clinical manifestations and management of Gaucher disease.

    Science.gov (United States)

    Linari, Silvia; Castaman, Giancarlo

    2015-01-01

    Gaucher disease is a rare multi-systemic metabolic disorder caused by the inherited deficiency of the lysosomal enzyme β-glucocerebrosidase, which leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages with damage to haematological, visceral and bone systems. Anaemia, thrombocytopenia, enlargement of liver and/or spleen, skeletal abnormalities (osteopenia, lytic lesions, pathological fractures, chronic bone pain, bone crisis, bone infarcts, osteonecrosis and skeletal deformities) are typical manifestations of the most prevalent form of the disease, the so-called non-neuronopathic type 1. However, severity and coexistence of different symptoms are highly variable. The determination of deficient β-glucocerebrosidase activity in leukocytes or fibroblasts by enzymatic assay is the gold standard for the diagnosis of Gaucher disease. Comprehensive and reproducible evaluation and monitoring of all clinically relevant aspects are fundamental for the effective management of Gaucher disease patients. Enzyme replacement therapy has been shown to be effective in reducing glucocerebroside storage burden and diminishing the deleterious effects caused by its accumulation. Tailored treatment plan for each patient should be directed to symptom relief, general improvement of quality of life, and prevention of irreversible damage.

  20. Clinical disease registries in acute myocardial infarction.

    Science.gov (United States)

    Ashrafi, Reza; Hussain, Hussain; Brisk, Robert; Boardman, Leanne; Weston, Clive

    2014-06-26

    Disease registries, containing systematic records of cases, have for nearly 100 years been valuable in exploring and understanding various aspects of cardiology. This is particularly true for myocardial infarction, where such registries have provided both epidemiological and clinical information that was not readily available from randomised controlled trials in highly-selected populations. Registries, whether mandated or voluntary, prospective or retrospective in their analysis, have at their core a common study population and common data definitions. In this review we highlight how registries have diversified to offer information on epidemiology, risk modelling, quality assurance/improvement and original research-through data mining, transnational comparisons and the facilitation of enrolment in, and follow-up during registry-based randomised clinical trials.

  1. Smart Technology in Lung Disease Clinical Trials.

    Science.gov (United States)

    Geller, Nancy L; Kim, Dong-Yun; Tian, Xin

    2016-01-01

    This article describes the use of smart technology by investigators and patients to facilitate lung disease clinical trials and make them less costly and more efficient. By "smart technology" we include various electronic media, such as computer databases, the Internet, and mobile devices. We first describe the use of electronic health records for identifying potential subjects and then discuss electronic informed consent. We give several examples of using the Internet and mobile technology in clinical trials. Interventions have been delivered via the World Wide Web or via mobile devices, and both have been used to collect outcome data. We discuss examples of new electronic devices that recently have been introduced to collect health data. While use of smart technology in clinical trials is an exciting development, comparison with similar interventions applied in a conventional manner is still in its infancy. We discuss advantages and disadvantages of using this omnipresent, powerful tool in clinical trials, as well as directions for future research. Published by Elsevier Inc.

  2. Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease

    Directory of Open Access Journals (Sweden)

    Sabrina Mello Alves Corrêa

    2010-12-01

    Full Text Available CONTEXT: In Machado-Joseph disease, poor posture, dystonia and peripheral neuropathy are extremely predisposing to oropharyngeal dysphagia, which is more commonly associated with muscular dystrophy. OBJECTIVE: To evaluate the clinical characteristics of oropharyngeal dysphagia in Machado-Joseph disease patients. METHOD: Forty individuals participated in this study, including 20 with no clinical complaints and 20 dysphagic patients with Machado-Joseph disease of clinical type 1, who were all similar in terms of gender distribution, average age, and cognitive function. The medical history of each patient was reviewed and each subject underwent a clinical evaluation of deglutition. At the end, the profile of dysphagia in patients with Machado-Joseph disease was classified according to the Severity Scale of Dysphagia, as described by O'Neil and collaborators. RESULTS: Comparison between dysphagic patients and controls did not reveal many significant differences with respect to the clinical evaluation of the oral phase of deglutition, since afflicted patients only demonstrated deficits related to the protrusion, retraction and tonus of the tongue. However, several significant differences were observed with respect to the pharyngeal phase. Dysphagic patients presented pharyngeal stasis during deglutition of liquids and solids, accompanied by coughing and/or choking as well as penetration and/or aspiration; these signs were absent in the controls. CONCLUSIONS: Oropharyngeal dysphagia is part of the Machado-Joseph disease since the first neurological manifestations. There is greater involvement of the pharyngeal phase, in relation to oral phase of the deglutition. The dysphagia of these patients is classified between mild and moderate.

  3. Pilonidal sinus disease - Etiological factors, pathogenesis and clinical features

    Directory of Open Access Journals (Sweden)

    Kazim Duman

    2016-12-01

    Full Text Available and lsquo;Pilonidal sinus' disease, which is most commonly seen in reproductive populations, such as young adults - mostly in males who are in their twenties - is actually a controversial disease in that there is no consensus on its many facets. It is sometimes seen as an infected abscess draining from an opening or a lesion extending to the perineum. It may also present as a draining fistula opening to skin. In terms of etiological factors, various theories (main theories being congenital and acquired have been established since it was first described, no universal understanding achieved. A long and significant post-operative care period with different lengths of recovery depending on the type of operation are quite prevalent with regards to recurrence and complication status. In order to prevent recurrence and improve the quality of life, etiological and predisposing factors as well as clinical features of sacrococcygeal pilonidal disease should be well known, a detailed differential diagnosis should be made, and a suitable and timely intervention should be performed. It was aimed here to explain the etiological factors, pathogenesis and clinical features of the disease that may present with various clinical symptoms. [Arch Clin Exp Surg 2016; 5(4.000: 228-232

  4. Alzheimer's disease: Cerebrovascular dysfunction, oxidative stress, and advanced clinical therapies

    NARCIS (Netherlands)

    Marlatt, M.W.; Lucassen, P.J.; Perry, G.; Smith, M.A.; Zhu, X.

    2008-01-01

    Many lines of independent research have provided convergent evidence regarding oxidative stress, cerebrovascular disease, dementia, and Alzheimer's disease (AD). Clinical studies spurred by these findings engage basic and clinical communities with tangible results regarding molecular targets and

  5. Advanced and controlled drug delivery systems in clinical disease management

    NARCIS (Netherlands)

    Brouwers, JRBJ

    1996-01-01

    Advanced and controlled drug delivery systems are important for clinical disease management. In this review the most important new systems which have reached clinical application are highlighted. Microbiologically controlled drug delivery is important for gastrointestinal diseases like ulcerative

  6. Design and Evaluation of a Bacterial Clinical Infectious Diseases Ontology

    Science.gov (United States)

    Gordon, Claire L.; Pouch, Stephanie; Cowell, Lindsay G.; Boland, Mary Regina; Platt, Heather L.; Goldfain, Albert; Weng, Chunhua

    2013-01-01

    With antimicrobial resistance increasing worldwide, there is a great need to use automated antimicrobial decision support systems (ADSSs) to lower antimicrobial resistance rates by promoting appropriate antimicrobial use. However, they are infrequently used mostly because of their poor interoperability with different health information technologies. Ontologies can augment portable ADSSs by providing an explicit knowledge representation for biomedical entities and their relationships, helping to standardize and integrate heterogeneous data resources. We developed a bacterial clinical infectious diseases ontology (BCIDO) using Protégé-OWL. BCIDO defines a controlled terminology for clinical infectious diseases along with domain knowledge commonly used in hospital settings for clinical infectious disease treatment decision-making. BCIDO has 599 classes and 2355 object properties. Terms were imported from or mapped to Systematized Nomenclature of Medicine, Unified Medical Language System, RxNorm and National Center for Bitechnology Information Organismal Classification where possible. Domain expert evaluation using the “laddering” technique, ontology visualization, and clinical notes and scenarios, confirmed the correctness and potential usefulness of BCIDO. PMID:24551353

  7. Associating clinical archetypes through UMLS Metathesaurus term clusters.

    Science.gov (United States)

    Lezcano, Leonardo; Sánchez-Alonso, Salvador; Sicilia, Miguel-Angel

    2012-06-01

    Clinical archetypes are modular definitions of clinical data, expressed using standard or open constraint-based data models as the CEN EN13606 and openEHR. There is an increasing archetype specification activity that raises the need for techniques to associate archetypes to support better management and user navigation in archetype repositories. This paper reports on a computational technique to generate tentative archetype associations by mapping them through term clusters obtained from the UMLS Metathesaurus. The terms are used to build a bipartite graph model and graph connectivity measures can be used for deriving associations.

  8. Allogeneic stem cell transplantation provides durable disease control in poor-risk chronic lymphocytic leukemia: long-term clinical and MRD results of the German CLL Study Group CLL3X trial.

    Science.gov (United States)

    Dreger, Peter; Döhner, Hartmut; Ritgen, Matthias; Böttcher, Sebastian; Busch, Raymonde; Dietrich, Sascha; Bunjes, Donald; Cohen, Sandra; Schubert, Jörg; Hegenbart, Ute; Beelen, Dietrich; Zeis, Matthias; Stadler, Michael; Hasenkamp, Justin; Uharek, Lutz; Scheid, Christof; Humpe, Andreas; Zenz, Thorsten; Winkler, Dirk; Hallek, Michael; Kneba, Michael; Schmitz, Norbert; Stilgenbauer, Stephan

    2010-10-07

    The purpose of this prospective multicenter phase 2 trial was to investigate the long-term outcome of reduced-intensity conditioning allogeneic stem cell transplantation (alloSCT) in patients with poor-risk chronic lymphocytic leukemia. Conditioning was fludarabine/ cyclophosphamide-based. Longitudinal quantitative monitoring of minimal residual disease (MRD) was performed centrally by MRD-flow or real-time quantitative polymerase chain reaction. One hundred eligible patients were enrolled, and 90 patients proceeded to alloSCT. With a median follow-up of 46 months (7-102 months), 4-year nonrelapse mortality, event-free survival (EFS) and overall survival (OS) were 23%, 42%, and 65%, respectively. Of 52 patients with MRD monitoring available, 27 (52%) were alive and MRD negative at 12 months after transplant. Four-year EFS of this subset was 89% with all event-free patients except for 2 being MRD negative at the most recent assessment. EFS was similar for all genetic subsets, including 17p deletion (17p-). In multivariate analyses, uncontrolled disease at alloSCT and in vivo T-cell depletion with alemtuzumab, but not 17p-, previous purine analogue refractoriness, or donor source (human leukocyte antigen-identical siblings or unrelated donors) had an adverse impact on EFS and OS. In conclusion, alloSCT for poor-risk chronic lymphocytic leukemia can result in long-term MRD-negative survival in up to one-half of the patients independent of the underlying genomic risk profile. This trial is registered at http://clinicaltrials.gov as NCT00281983.

  9. Early-stage [{sup 123}I]{beta}-CIT SPECT and long-term clinical follow-up in patients with an initial diagnosis of Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Stoffers, Diederick [VU University Medical Center, Institute for Clinical and Experimental Neurosciences, P.O. Box 7057, MB, Amsterdam (Netherlands); Vrije Universiteit, Department of Clinical Neuropsychology, Amsterdam (Netherlands); Booij, Jan [University of Amsterdam, Department of Nuclear Medicine, Academic Medical Center (Netherlands); Bosscher, Lisette; Winogrodzka, Ania; Wolters, Erik C.; Berendse, Henk W. [VU University Medical Center, Institute for Clinical and Experimental Neurosciences, P.O. Box 7057, MB, Amsterdam (Netherlands)

    2005-06-01

    Previous studies using dopamine transporter single-photon emission computed tomography (SPECT) to try and distinguish between patients with idiopathic Parkinson's disease (IPD) and patients with atypical parkinsonian syndromes (APS) have mainly focussed on patients with an already established clinical diagnosis of several years' duration. Differences in the pattern of striatal involvement between IPD and APS have been found in only few studies. We hypothesized that distinguishing SPECT features might be most pronounced at an early disease stage, and the purpose of the present study was to investigate this hypothesis. The study included 72 patients with an initial clinical diagnosis of IPD, supported by decreased striatal [{sup 123}I]{beta}-CIT binding on baseline SPECT. In ten patients, the diagnosis was changed to APS over a mean follow-up period of 62 months. We retrospectively compared the patterns of striatal involvement on the baseline SPECT scans between the group of patients (re)diagnosed with APS and the remaining 62 patients in whom a diagnosis of IPD was maintained. In the group of patients with APS, baseline [{sup 123}I]{beta}-CIT binding in both caudate nuclei was lower than in the group of patients with IPD. In addition, putamen to caudate binding ratios were higher in the group of APS patients. In spite of these differences, individual binding values showed considerable overlap between the groups. [{sup 123}I]{beta}-CIT SPECT scanning in early-stage, untreated parkinsonian patients revealed a relative sparing of the caudate nucleus in patients with IPD as compared to patients later (re)diagnosed with APS. Nevertheless, the pattern of striatal involvement appears to have little predictive value for a later re-diagnosis of APS in individual cases. (orig.)

  10. CDKD: a clinical database of kidney diseases

    Directory of Open Access Journals (Sweden)

    Singh Sanjay

    2012-04-01

    Full Text Available Abstract Background The main function of the kidneys is to remove waste products and excess water from the blood. Loss of kidney function leads to various health issues, such as anemia, high blood pressure, bone disease, disorders of cholesterol. The main objective of this database system is to store the personal and laboratory investigatory details of patients with kidney disease. The emphasis is on experimental results relevant to quantitative renal physiology, with a particular focus on data relevant for evaluation of parameters in statistical models of renal function. Description Clinical database of kidney diseases (CDKD has been developed with patient confidentiality and data security as a top priority. It can make comparative analysis of one or more parameters of patient’s record and includes the information of about whole range of data including demographics, medical history, laboratory test results, vital signs, personal statistics like age and weight. Conclusions The goal of this database is to make kidney-related physiological data easily available to the scientific community and to maintain & retain patient’s record. As a Web based application it permits physician to see, edit and annotate a patient record from anywhere and anytime while maintaining the confidentiality of the personal record. It also allows statistical analysis of all data.

  11. Short-term memory binding deficits in Alzheimer's disease.

    Science.gov (United States)

    Parra, Mario A; Abrahams, Sharon; Fabi, Katia; Logie, Robert; Luzzi, Simona; Della Sala, Sergio

    2009-04-01

    Alzheimer's disease impairs long term memories for related events (e.g. faces with names) more than for single events (e.g. list of faces or names). Whether or not this associative or 'binding' deficit is also found in short-term memory has not yet been explored. In two experiments we investigated binding deficits in verbal short-term memory in Alzheimer's disease. Experiment 1: 23 patients with Alzheimer's disease and 23 age and education matched healthy elderly were recruited. Participants studied visual arrays of objects (six for healthy elderly and four for Alzheimer's disease patients), colours (six for healthy elderly and four for Alzheimer's disease patients), unbound objects and colours (three for healthy elderly and two for Alzheimer's disease patients in each of the two categories), or objects bound with colours (three for healthy elderly and two for Alzheimer's disease patients). They were then asked to recall the items verbally. The memory of patients with Alzheimer's disease for objects bound with colours was significantly worse than for single or unbound features whereas healthy elderly's memory for bound and unbound features did not differ. Experiment 2: 21 Alzheimer's disease patients and 20 matched healthy elderly were recruited. Memory load was increased for the healthy elderly group to eight items in the conditions assessing memory for single or unbound features and to four items in the condition assessing memory for the binding of these features. For Alzheimer's disease patients the task remained the same. This manipulation permitted the performance to be equated across groups in the conditions assessing memory for single or unbound features. The impairment in Alzheimer's disease patients in recalling bound objects reported in Experiment 1 was replicated. The binding cost was greater than that observed in the healthy elderly group, who did not differ in their performance for bound and unbound features. Alzheimer's disease grossly impairs the

  12. Short term clinical outcome of children with rotavirus infection at ...

    African Journals Online (AJOL)

    Background: Rotavirus infection is the single most common cause of acute gastroenteritis in children under five years of age. Rotavirus gastroenteritis has a high morbidity and mortality in children in Kenya. Objectives: To determine the short term clinical outcome for children admitted to Kenyatta National Hospital with ...

  13. Motivators for Alzheimer's disease clinical trial participation.

    Science.gov (United States)

    Bardach, Shoshana H; Holmes, Sarah D; Jicha, Gregory A

    2018-02-01

    Alzheimer's disease (AD) research progress is impeded due to participant recruitment challenges. This study seeks to better understand, from the perspective of individuals engaged in clinical trials (CTs), research motivations. Participants, or their caregivers, from AD treatment and prevention CTs were surveyed about research motivators. The 87 respondents had a mean age of 72.2, were predominantly Caucasian, 55.2% were male, and 56.3% had cognitive impairment. An overwhelming majority rated the potential to help themselves or a loved one and the potential to help others in the future as important motivators. Relatively few respondents were motivated by free healthcare, monetary rewards, or to make others happy. Recruitment efforts should focus on the potential benefit for the individual, their loved ones, and others in the future rather than free healthcare or monetary rewards.

  14. A Rare Clinical Presentation of Darier's Disease

    Science.gov (United States)

    Ferizi, Mybera; Begolli-Gerqari, Antigona; Luzar, Bostjan; Kurshumliu, Fisnik; Ferizi, Mergita

    2013-01-01

    Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae. PMID:23573430

  15. Personality in Parkinson's disease: Clinical, behavioural and cognitive correlates.

    Science.gov (United States)

    Santangelo, Gabriella; Piscopo, Fausta; Barone, Paolo; Vitale, Carmine

    2017-03-15

    Affective disorders and personality changes have long been considered pre-motor aspects of Parkinson's disease (PD). Many authors have used the term "premorbid personality" to define distinctive features of PD patients' personality characterized by reduced exploration of new environmental stimuli or potential reward sources ("novelty seeking") and avoidance behaviour ("harm avoidance") present before motor features. The functional correlates underlying the personality changes described in PD, implicate dysfunction of meso-cortico-limbic and striatal circuits. As disease progresses, the imbalance of neurotransmitter systems secondary to degenerative processes, along with dopamine replacement therapy, can produce a reversal of behaviours and an increase in reward seeking, laying the foundations for the emergence of the impulse control disorders. Personality disorders can be interpreted, therefore, as the result of individual susceptibility arising from intrinsic degenerative processes and individual personality features, in combination with extrinsic factors such as lifestyle, PD motor dysfunction and drug treatment. For a better understanding of personality disorders observed in PD and their relationship with the prodromal stage of the disease, prospective clinical studies are needed that correlate different personality profiles with other disease progression markers. Here, we review previous studies investigating the clinical, cognitive and behavioural correlates of personality traits in PD patients. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Veno occlusive disease: Update on clinical management

    Science.gov (United States)

    Senzolo, M; Germani, G; Cholongitas, E; Burra, P; Burroughs, AK

    2007-01-01

    Hepatic veno-occlusive disease is a clinical syndrome characterized by hepatomegaly, ascites, weight gain and jaundice, due to sinusoidal congestion which can be caused by alkaloid ingestion, but the most frequent cause is haematopoietic stem cell transplantation (STC) and is also seen after solid organ transplantation. The incidence of veno occlusive disease (VOD) after STC ranges from 0 to 70%, but is decreasing. Survival is good when VOD is a mild form, but when it is severe and associated with an increase of hepatic venous pressure gradient > 20 mmHg, and mortality is about 90%. Prevention remains the best therapeutic strategy, by using non-myeloablative conditioning regimens before STC. Prophylactic administration of ursodeoxycholic acid, being an antioxidant and antiapoptotic agent, can have some benefit in reducing overall mortality. Defibrotide, which has pro-fibrinolytic and antithrombotic properties, is the most effective therapy; decompression of the sinusoids by a transjugular intrahepatic portosystemic shunt (TIPS) can be tried, especially to treat VOD after liver transplantation and when multiorgan failure (MOF) is not present. Liver transplantation can be the last option, but can not be considered a standard rescue therapy, because usually the concomitant presence of multiorgan failure contraindicates this procedure. PMID:17663504

  17. ACG clinical guidelines: diagnosis and management of celiac disease.

    Science.gov (United States)

    Rubio-Tapia, Alberto; Hill, Ivor D; Kelly, Ciarán P; Calderwood, Audrey H; Murray, Joseph A

    2013-05-01

    clinical trials, but are not yet approved for use in practice. Given the incomplete response of many patients to a GFD-free diet as well as the difficulty of adherence to the GFD over the long term, development of new effective therapies for symptom control and reversal of inflammation and organ damage are needed. The prevalence of celiac disease is increasing worldwide and many patients with celiac disease remain undiagnosed, highlighting the need for improved strategies in the future for the optimal detection of patients.

  18. Neonatal Pulmonary MRI of Bronchopulmonary Dysplasia Predicts Short-term Clinical Outcomes.

    Science.gov (United States)

    Higano, Nara S; Spielberg, David R; Fleck, Robert J; Schapiro, Andrew H; Walkup, Laura L; Hahn, Andrew D; Tkach, Jean A; Kingma, Paul S; Merhar, Stephanie L; Fain, Sean B; Woods, Jason C

    2018-05-23

    Bronchopulmonary dysplasia (BPD) is a serious neonatal pulmonary condition associated with premature birth, but the underlying parenchymal disease and trajectory are poorly characterized. The current NICHD/NHLBI definition of BPD severity is based on degree of prematurity and extent of oxygen requirement. However, no clear link exists between initial diagnosis and clinical outcomes. We hypothesized that magnetic resonance imaging (MRI) of structural parenchymal abnormalities will correlate with NICHD-defined BPD disease severity and predict short-term respiratory outcomes. Forty-two neonates (20 severe BPD, 6 moderate, 7 mild, 9 non-BPD controls; 40±3 weeks post-menstrual age) underwent quiet-breathing structural pulmonary MRI (ultrashort echo-time and gradient echo) in a NICU-sited, neonatal-sized 1.5T scanner, without sedation or respiratory support unless already clinically prescribed. Disease severity was scored independently by two radiologists. Mean scores were compared to clinical severity and short-term respiratory outcomes. Outcomes were predicted using univariate and multivariable models including clinical data and scores. MRI scores significantly correlated with severities and predicted respiratory support at NICU discharge (P<0.0001). In multivariable models, MRI scores were by far the strongest predictor of respiratory support duration over clinical data, including birth weight and gestational age. Notably, NICHD severity level was not predictive of discharge support. Quiet-breathing neonatal pulmonary MRI can independently assess structural abnormalities of BPD, describe disease severity, and predict short-term outcomes more accurately than any individual standard clinical measure. Importantly, this non-ionizing technique can be implemented to phenotype disease and has potential to serially assess efficacy of individualized therapies.

  19. The Oslo definitions for coeliac disease and related terms

    Science.gov (United States)

    Ludvigsson, Jonas F; Leffler, Daniel A; Bai, Julio; Biagi, Federico; Fasano, Alessio; Green, Peter HR; Hadjivassiliou, Marios; Kaukinen, Katri; Kelly, Ciaran; Leonard, Jonathan N; Lundin, Knut E; Murray, Joseph A; Sanders, David S; Walker, Marjorie M; Zingone, Fabiana; Ciacci, Carolina

    2012-01-01

    Background The literature suggests a lack of consensus on the use of terms related to coeliac disease (CD) and gluten. Methods A multi-disciplinary task force of 16 physicians from 7 countries used the electronic database PubMed to review the literature with regards to CD-related terms up to January 2011. Teams of physicians then suggested a definition for each term, followed by feedback of these definitions through a web survey on definitions, discussions during a meeting in Oslo, and phone conferences. We evaluated the following terms (in alphabetical order): Coeliac disease and the following descriptors of CD: asymptomatic, atypical, classical, latent, non-classical, overt, paediatric classical, potential, refractory, silent, subclinical, symptomatic, typical, CD serology, CD autoimmunity, genetically at risk of CD, dermatitis herpetiformis, gluten, gluten ataxia, gluten intolerance, gluten sensitivity, and gliadin-specific antibodies. Results CD was defined as “a chronic small intestinal immune-mediated enteropathy precipitated by exposure to dietary gluten in genetically predisposed individuals”. Classical CD was defined as “CD presenting with signs and symptoms of malabsorption. Diarrhoea, steatorrhoea, weight loss or growth failure is required.” We suggest that “gluten-related disorders” is the umbrella term for all diseases triggered by gluten and that the term gluten intolerance is not to be used. Other definitions are presented in the paper. Conclusion This paper presents the Oslo definitions for CD-related terms. PMID:22345659

  20. Volvulus in term and preterm infants - clinical presentation and outcome.

    Science.gov (United States)

    Horsch, Sandra; Albayrak, Bilge; Tröbs, Ralf-Bodo; Roll, Claudia

    2016-06-01

    Our aim was to assess if term and preterm infants with volvulus showed different patterns with regard to pathogenesis, clinical presentation and outcome. We reviewed the medical records and imaging data of infants aged less than six months with volvulus treated in a single surgical referral centre from 2006-2013. Volvulus was diagnosed in 19 infants, with no anatomical anomaly in three of the 12 preterm infants and one of the seven term infants. Most cases (74%) presented during the first eight days of life. Later presentations occurred exclusively in preterm infants, with only one of the five having no anatomic anomalies. Bilious vomiting was the leading symptom in six of the seven term infants, while the symptoms in preterm infants were rather nonspecific. Intestinal necrosis, with the need for bowel resection, occurred in one term (14%) infant and nine (75%) preterm infants. The clinical presentation and outcome of volvulus differed between preterm and term infants, but the rate and distribution of underlying anomalies did not differ. Symptoms in preterm infants were often nonspecific and led to a delay in diagnosis. This might have contributed to the higher rate of intestinal necrosis in preterm infants. ©2016 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  1. Long-term skeletal findings in Menkes disease

    International Nuclear Information System (INIS)

    Amador, Eva; Domene, Ruth; Fuentes, Cristian; Carreno, Juan-Carlos; Enriquez, Goya

    2010-01-01

    Skeletal findings in infants with Menkes disease, the most characteristic of which are metaphyseal spurs, long-bone fractures and wormian bones, have been widely reported. However, the changes in skeletal features over time are not well known. The long-term findings differ completely from those initially observed and consist of undertubulation and metaphyseal flaring, similar to the findings seen in some types of bone dysplasia. The initial and long-term radiological features in an 8-year-old boy with Menkes disease are illustrated. (orig.)

  2. Cost-effectiveness of longer-term versus shorter-term provision of antibiotics in patients with persistent symptoms attributed to Lyme disease

    NARCIS (Netherlands)

    Berende, A.; Nieuwenhuis, L.; Hofstede, H.J.M. ter; Vos, F.J.; Vogelaar, M.L.; Tromp, M.A.; Middendorp, H. van; Donders, A.R.T.; Evers, A.W.M.; Kullberg, B.J.; Adang, E.M.M.

    2018-01-01

    BACKGROUND: The treatment of persistent symptoms attributed to Lyme disease remains controversial. Recently, the PLEASE study did not demonstrate any additional clinical benefit of longer-term versus shorter-term antibiotic treatment. However, the economic impact of the antibiotic strategies has not

  3. Calcium pyrophosphate deposition disease: clinical manifestations

    Directory of Open Access Journals (Sweden)

    M.A. Cimmino

    2012-01-01

    Full Text Available Calcium pyrophosphate deposition (CPPD disease is an arthropathy caused by calcium pyrophosphate dihydrate (CPP crystal deposits in articular tissues, most commonly fibrocartilage and hyaline cartilage. According to EULAR, four different clinical presentations can be observed: 1 asymptomatic CPPD; 2 osteoarthritis (OA with CPPD; 3 acute CPP crystal arthritis; 4 chronic CPP inflammatory crystal arthritis. Acute CPP crystal arthritis is characterized by sudden onset of pain, swelling and tenderness with overlying erythema, usually in a large joint, most often the knee, wrist, shoulder, and hip. Occasionally, ligaments, tendons, bursae, bone and the spine can be involved. CPPD of the atlanto-occipital joint (crowned dens syndrome can cause periodic acute cervico-occipital pain with fever, neck stiffness and laboratory inflammatory syndrome. Chronic inflammatory arthritis is characterized by joint swelling, morning stiffness, pain, and high ESR and CRP. The relationship between OA and CPPD is still unclear. The main problem is whether such crystals are directly involved in the pathogenesis of OA or if they are the result of joint degeneration. Diagnosis is based on evaluation of history and clinical features, conventional radiology, and synovial fluid examination. Non-polarized light microscopy should be used initially to screen for CPPD crystals based upon their characteristic morphology, and compensated polarized light microscopy, showing the crystals to be weakly positive birefringent, is recommended for definitive identification, although this last pattern only occurs in about 20% of samples. The main goals of CPPD therapy are control of the acute or chronic inflammatory reaction and prevention of further episodes.

  4. Clinically Unsuspected Prion Disease Among Patients With Dementia Diagnoses in an Alzheimer's Disease Database.

    Science.gov (United States)

    Maddox, Ryan A; Blase, J L; Mercaldo, N D; Harvey, A R; Schonberger, L B; Kukull, W A; Belay, E D

    2015-12-01

    Brain tissue analysis is necessary to confirm prion diseases. Clinically unsuspected cases may be identified through neuropathologic testing. National Alzheimer's Coordinating Center (NACC) Minimum and Neuropathologic Data Set for 1984 to 2005 were reviewed. Eligible patients had dementia, underwent autopsy, had available neuropathologic data, belonged to a currently funded Alzheimer's Disease Center (ADC), and were coded as having an Alzheimer's disease clinical diagnosis or a nonprion disease etiology. For the eligible patients with neuropathology indicating prion disease, further clinical information, collected from the reporting ADC, determined whether prion disease was considered before autopsy. Of 6000 eligible patients in the NACC database, 7 (0.12%) were clinically unsuspected but autopsy-confirmed prion disease cases. The proportion of patients with dementia with clinically unrecognized but autopsy-confirmed prion disease was small. Besides confirming clinically suspected cases, neuropathology is useful to identify unsuspected clinically atypical cases of prion disease. © The Author(s) 2015.

  5. Long-term results of peripheral arterial disease rehabilitation

    NARCIS (Netherlands)

    Menard, J.R.; Smith, H.E.; Riebe, D.; Braun, C.M.; Blissmer, B.; Patterson, R.B.

    2004-01-01

    Purpose Although the Peripheral Arterial Disease Rehabilitation Program (PADRx) improves walking ability and quality of life over brief periods of follow-up, the long-term durability of results has not been established. This study examined functional status, walking ability, and quality of life in

  6. Short-term clinical experience with hip resurfacing arthroplasty.

    Science.gov (United States)

    Cieliński, Łukasz; Kusz, Damian; Wojciechowski, Piotr; Dziuba, Anna

    2007-01-01

    This paper discusses the authors' experience with hip resurfacing arthroplasty. Although introduced many years ago, the method did not gain wide popularity because of poor long-term outcomes. At present, owing to the introduction of metal-on-metal bearings and hybrid fixation techniques, short- and mid-term results are very good and encourage wider use of this technique, especially in the younger and more active patients whose results with standard total hip replacements would be unsatisfactory. We performed 13 hip resurfacing arthroplasties at our institution between August 1, 2005, and May 1, 2006. Twelve patients reported for the scheduled follow-up and were included in the study. Treatment outcomes were assessed according to the Harris Hip Score. The short-term outcomes of hip resurfacing arthroplasties are encouraging. In the study group there were no intraoperative complications, infections, peripheral nerve palsy, hip dislocations or clinically overt vein thrombosis. All of the patients reported complete or major pain relief. Clinical assessment according to the Harris Hip Score revealed improvement from an average of 57.7 (20.1) points preoperatively to an average of 87.7 (12) points after the surgery. Crutches were used for a maximum of 6 weeks postoperatively. All of the patients are currently able to walk without crutches with full weight-bearing. 1) Hip resurfacing arthroplasty seems to be an advisable method of operative management of younger, active patients, in whom standard THR would be associated with a high risk of failure; it allows THR to be postponed and carried out as a revision surgery with the acetabular component already in place. 2) Despite the good short- and mid-term results, the utility of this method should be evaluated with caution due to the lack of adequate long-term follow-up data.

  7. Subjective cognitive decline: The first clinical manifestation of Alzheimer's disease?

    Directory of Open Access Journals (Sweden)

    Adalberto Studart Neto

    Full Text Available ABSTRACT Background: Mild cognitive impairment is considered as the first clinical manifestation of Alzheimer's disease (AD, when the individual exhibits below performance on standardized neuropsychological tests. However, some subjects before having a lower performance on cognitive assessments already have a subjective memory complaint. Objective: A review about subjective cognitive decline, the association with AD biomarkers and risk of conversion to dementia. Methods: We performed a comprehensive non-systematic review on PubMed. The keywords used in the search were terms related to subjective cognitive decline. Results: Subjective cognitive decline is characterized by self-experience of deterioration in cognitive performance not detected objectively through formal neuropsychological testing. However, various terms and definitions have been used in the literature and the lack of a widely accepted concept hampers comparison of studies. Epidemiological data have shown that individuals with subjective cognitive decline are at increased risk of progression to AD dementia. In addition, there is evidence that this group has a higher prevalence of positive biomarkers for amyloidosis and neurodegeneration. However, Alzheimer's disease is not the only cause of subjective cognitive decline and various other conditions can be associated with subjective memory complaints, such as psychiatric disorders or normal aging. The features suggestive of a neurodegenerative disorder are: onset of decline within the last five years, age at onset above 60 years, associated concerns about decline and confirmation by an informant. Conclusion: These findings support the idea that subjective cognitive complaints may be an early clinical marker that precedes mild cognitive impairment due to Alzheimer's disease.

  8. Peripheral Avascular Retina in a Term Male Neonate With Microvillus Inclusion Disease and Pancreatic Insufficiency.

    Science.gov (United States)

    Paulus, Yannis M; Alcorn, Deborah M; Gaynon, Michael; Moshfeghi, Darius M

    2015-05-01

    The authors present the first case of peripheral avascular retina in a term male neonate with pancreatic exocrine insufficiency, atypical microvillus inclusion disease, flat tympanograms, and recurrent urinary tract infections. Clinical examination showed avascular peripheral retina to posterior zone II temporally, with a flat stage 1-like demarcation line, and no plus disease. Genetic testing results were normal. The patient developed peripheral neovascularization and underwent panretinal photocoagulation. This case likely represents mild Norrie disease, familial exudative vitreoretinopathy, or incontinentia pigmenti due to a Wnt signaling abnormality. While these conditions are usually more severe, a variable spectrum of Wnt abnormalities exists throughout the body. Copyright 2015, SLACK Incorporated.

  9. [Clinical overview of auto-inflammatory diseases].

    Science.gov (United States)

    Georgin-Lavialle, S; Rodrigues, F; Hentgen, V; Fayand, A; Quartier, P; Bader-Meunier, B; Bachmeyer, C; Savey, L; Louvrier, C; Sarrabay, G; Melki, I; Belot, A; Koné-Paut, I; Grateau, G

    2018-04-01

    Monogenic auto-inflammatory diseases are characterized by genetic abnormalities coding for proteins involved in innate immunity. They were initially described in mirror with auto-immune diseases because of the absence of circulating autoantibodies. Their main feature is the presence of peripheral blood inflammation in crisis without infection. The best-known auto-inflammatory diseases are mediated by interleukines that consisted in the 4 following diseases familial Mediterranean fever, cryopyrinopathies, TNFRSF1A-related intermittent fever, and mevalonate kinase deficiency. Since 10 years, many other diseases have been discovered, especially thanks to the progress in genetics. In this review, we propose the actual panorama of the main known auto-inflammatory diseases. Some of them are recurrent fevers with crisis and remission; some others evaluate more chronically; some are associated with immunodeficiency. From a physiopathological point of view, we can separate diseases mediated by interleukine-1 and diseases mediated by interferon. Then some polygenic inflammatory diseases will be shortly described: Still disease, Schnitzler syndrome, aseptic abscesses syndrome. The diagnosis of auto-inflammatory disease is largely based on anamnesis, the presence of peripheral inflammation during attacks and genetic analysis, which are more and more performant. Copyright © 2018 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  10. Final results of a long-term, clinical follow-up in fatty liver patients

    DEFF Research Database (Denmark)

    Dam-Larsen, Sanne; Becker, Ulrik; Franzmann, Maria-Benedicte

    2009-01-01

    OBJECTIVE: There is increasing focus on non-alcoholic fatty liver disease (NAFLD). The aim of the present study was to conduct a long-term clinical follow-up of patients with biopsy-confirmed fatty liver without inflammation or significant fibrosis (pure fatty liver), to analyse for potential risk....... All admissions, discharge diagnoses and causes of death during follow-up were collected. All surviving patients were invited to a clinical follow-up. RESULTS: The follow-up period was 20.4 and 21.0 years, respectively, for the NAFLD and alcoholic fatty liver disease (AFLD) groups. Two NAFLD patients...... of death. Patients with AFLD died primarily from cirrhosis and other alcohol-related disorders, whereas in patients with NAFLD the main causes of death were cardiovascular disease and cancer. CONCLUSIONS: For patients with pure non-alcoholic fatty liver, survival was good and independent...

  11. Sarcopenia in Alcoholic Liver Disease: Clinical and Molecular Advances.

    Science.gov (United States)

    Dasarathy, Jaividhya; McCullough, Arthur J; Dasarathy, Srinivasan

    2017-08-01

    Despite advances in treatment of alcohol use disorders that focus on increasing abstinence and reducing recidivism, alcoholic liver disease (ALD) is projected to be the major cause of cirrhosis and its complications. Malnutrition is recognized as the most frequent complication in ALD, and despite the high clinical significance, there are no effective therapies to reverse malnutrition in ALD. Malnutrition is a relatively imprecise term, and sarcopenia or skeletal muscle loss, the major component of malnutrition, is primarily responsible for the adverse clinical consequences in patients with liver disease. It is, therefore, critical to define the specific abnormality (sarcopenia) rather than malnutrition in ALD, so that therapies targeting sarcopenia can be developed. Skeletal muscle mass is maintained by a balance between protein synthesis and proteolysis. Both direct effects of ethanol (EtOH) and its metabolites on the skeletal muscle and the consequences of liver disease result in disturbed proteostasis (protein homeostasis) and consequent sarcopenia. Once cirrhosis develops in patients with ALD, abstinence is unlikely to be effective in completely reversing sarcopenia, as other contributors including hyperammonemia, hormonal, and cytokine abnormalities aggravate sarcopenia and maintain a state of anabolic resistance initiated by EtOH. Cirrhosis is also a state of accelerated starvation, with increased gluconeogenesis that requires amino acid diversion from signaling and substrate functions. Novel therapeutic options are being recognized that are likely to supplant the current "deficiency replacement" approach and instead focus on specific molecular perturbations, given the increasing availability of small molecules that can target specific signaling components. Myostatin antagonists, leucine supplementation, and mitochondrial protective agents are currently in various stages of evaluation in preclinical studies to prevent and reverse sarcopenia, in cirrhosis in

  12. Recommendations regarding the adoption of SNOMED Clinical Terms as the Clinical Terminology for Ireland, May 2014

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2012-02-01

    Encephalopathy associated with autoimmune thyroid disease is a rare condition presenting in the setting of autoimmune thyroid disease and characterized by unspecific neurological and\\/or psychiatric symptoms. Bearing in mind the currently prevailing lack of consensus on the most appropriate nomenclature and diagnostic criteria for this condition and the implications that this lack undeniably has on clinical practice, it is obvious that an international and multidisciplinary agreement among clinicians should arrive at the most appropriate definition and terminology of encephalopathy occurring in patients with autoimmune thyroid disease. Concomitantly, efforts must be made to uncover the pathogenetic link between thyroid autoimmunity and the occurrence of encephalopathy.

  13. Distribution of Short-Term and Lifetime Predicted Risks of Cardiovascular Diseases in Peruvian Adults.

    Science.gov (United States)

    Quispe, Renato; Bazo-Alvarez, Juan Carlos; Burroughs Peña, Melissa S; Poterico, Julio A; Gilman, Robert H; Checkley, William; Bernabé-Ortiz, Antonio; Huffman, Mark D; Miranda, J Jaime

    2015-08-07

    Short-term risk assessment tools for prediction of cardiovascular disease events are widely recommended in clinical practice and are used largely for single time-point estimations; however, persons with low predicted short-term risk may have higher risks across longer time horizons. We estimated short-term and lifetime cardiovascular disease risk in a pooled population from 2 studies of Peruvian populations. Short-term risk was estimated using the atherosclerotic cardiovascular disease Pooled Cohort Risk Equations. Lifetime risk was evaluated using the algorithm derived from the Framingham Heart Study cohort. Using previously published thresholds, participants were classified into 3 categories: low short-term and low lifetime risk, low short-term and high lifetime risk, and high short-term predicted risk. We also compared the distribution of these risk profiles across educational level, wealth index, and place of residence. We included 2844 participants (50% men, mean age 55.9 years [SD 10.2 years]) in the analysis. Approximately 1 of every 3 participants (34% [95% CI 33 to 36]) had a high short-term estimated cardiovascular disease risk. Among those with a low short-term predicted risk, more than half (54% [95% CI 52 to 56]) had a high lifetime predicted risk. Short-term and lifetime predicted risks were higher for participants with lower versus higher wealth indexes and educational levels and for those living in urban versus rural areas (PPeruvian adults were classified as low short-term risk but high lifetime risk. Vulnerable adults, such as those from low socioeconomic status and those living in urban areas, may need greater attention regarding cardiovascular preventive strategies. © 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  14. Distribution of Short-Term and Lifetime Predicted Risks of Cardiovascular Diseases in Peruvian Adults

    Science.gov (United States)

    Quispe, Renato; Bazo-Alvarez, Juan Carlos; Burroughs Peña, Melissa S; Poterico, Julio A; Gilman, Robert H; Checkley, William; Bernabé-Ortiz, Antonio; Huffman, Mark D; Miranda, J Jaime

    2015-01-01

    Background Short-term risk assessment tools for prediction of cardiovascular disease events are widely recommended in clinical practice and are used largely for single time-point estimations; however, persons with low predicted short-term risk may have higher risks across longer time horizons. Methods and Results We estimated short-term and lifetime cardiovascular disease risk in a pooled population from 2 studies of Peruvian populations. Short-term risk was estimated using the atherosclerotic cardiovascular disease Pooled Cohort Risk Equations. Lifetime risk was evaluated using the algorithm derived from the Framingham Heart Study cohort. Using previously published thresholds, participants were classified into 3 categories: low short-term and low lifetime risk, low short-term and high lifetime risk, and high short-term predicted risk. We also compared the distribution of these risk profiles across educational level, wealth index, and place of residence. We included 2844 participants (50% men, mean age 55.9 years [SD 10.2 years]) in the analysis. Approximately 1 of every 3 participants (34% [95% CI 33 to 36]) had a high short-term estimated cardiovascular disease risk. Among those with a low short-term predicted risk, more than half (54% [95% CI 52 to 56]) had a high lifetime predicted risk. Short-term and lifetime predicted risks were higher for participants with lower versus higher wealth indexes and educational levels and for those living in urban versus rural areas (PPeruvian adults were classified as low short-term risk but high lifetime risk. Vulnerable adults, such as those from low socioeconomic status and those living in urban areas, may need greater attention regarding cardiovascular preventive strategies. PMID:26254303

  15. Clinical Manifestations and Treatment of Lyme Disease.

    Science.gov (United States)

    Sanchez, Joyce L

    2015-12-01

    Lyme disease is the most common tick-borne illness in the United States and is also seen in areas of Europe and Asia. The growing deer and Ixodes species tick populations in many areas underscore the importance of clinicians to properly recognize and treat the different stages of Lyme disease. Controversy regarding the cause and management of persistent symptoms following treatment of Lyme disease persists and is highlighted in this review. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Peyronie's disease - a perspective on the disease and the long-term ...

    African Journals Online (AJOL)

    From 1966 to 1988, 98 of 108 patients with symptomatic Peyronie's disease received radiotherapy at our institution. In 11 of 61 patients (18%) who attended the clinic regularly for follow-up for longer than a year, new lesions distinct from the original lesions developed. This confirms that there is progression of the disease in ...

  17. Recruitment of subjects into clinical trials for Alzheimer disease.

    Science.gov (United States)

    Knebl, Janice A; Patki, Deepti

    2010-09-01

    Alzheimer disease is a devastating neurodegenerative disorder affecting millions of Americans. It reduces the ability of the individual to remain independent, places a burden on caregivers, and substantially increases healthcare costs. New treatments are being tested in numerous clinical trials with the goal of preventing or delaying the onset of Alzheimer disease, slowing or modifying the disease's course, or finding a cure for patients with the disease. Alzheimer disease research can successfully proceed only if individuals who have this illness are willing to participate in clinical trials. However, recruitment and retention of subjects in clinical trials for Alzheimer disease is a challenging task. Furthermore, because of reductions in decision-making capacities of individuals with Alzheimer disease, clinical trials also need to involve caregivers. The present article delineates unique hurdles encountered in the recruitment process for Alzheimer disease clinical trials. The article also identifies strategies for effective recruitment of subjects in Alzheimer disease clinical trials, including guidelines to help principal investigators and clinical research coordinators reach recruitment goals.

  18. Wilson disease : from clinical to molecular

    NARCIS (Netherlands)

    Houwen, Roderick Henk Johan

    1991-01-01

    Wilson disease is an autosomal recessive copper storage disease. It is characterized by an inability of the liver to; excrete copper into bile and to incorporate copper into ceruloplasmin. This results in a gradual accumulation of copper in the liver and subsequently in the brain and other organs,

  19. Atypical Clinical Manifestations of Graves' Disease: An Analysis in Depth

    Science.gov (United States)

    Hegazi, Mohamed Osama; Ahmed, Sherif

    2012-01-01

    Over the past few decades, there has been an increase in the number of reports about newly recognized (atypical or unusual) manifestations of Graves' disease (GD), that are related to various body systems. One of these manifestations is sometimes the main presenting feature of GD. Some of the atypical manifestations are specifically related to GD, while others are also similarly seen in patients with other forms of hyperthyroidism. Lack of knowledge of the association between these findings and GD may lead to delay in diagnosis, misdiagnosis, or unnecessary investigations. The atypical clinical presentations of GD include anemia, vomiting, jaundice, and right heart failure. There is one type of anemia that is not explained by any of the known etiological factors and responds well to hyperthyroidism treatment. This type of anemia resembles anemia of chronic disease and may be termed GD anemia. Other forms of anemia that are associated with GD include pernicious anemia, iron deficiency anemia of celiac disease, and autoimmune hemolytic anemia. Vomiting has been reported as a presenting feature of Graves' disease. Some cases had the typical findings of hyperthyroidism initially masked, and the vomiting did not improve until hyperthyroidism has been detected and treated. Hyperthyroidism may present with jaundice, and on the other hand, deep jaundice may develop with the onset of overt hyperthyroidism in previously compensated chronic liver disease patients. Pulmonary hypertension is reported to be associated with GD and to respond to its treatment. GD-related pulmonary hypertension may be so severe to produce isolated right-sided heart failure that is occasionally found as the presenting manifestation of GD. PMID:22132347

  20. Liver involvement in Gaucher disease - Review and clinical approach.

    Science.gov (United States)

    Adar, Tomer; Ilan, Yaron; Elstein, Deborah; Zimran, Ari

    2018-02-01

    Gaucher disease (GD), one of the most prevalent lysosomal storage diseases, is associated with glucocerebroside accumulation in cells of the monocyte-macrophage system in various organs, including the liver. Evaluating and managing liver disease in patients with Gaucher disease may be challenging. While hepatic involvement is common in Gaucher disease, its severity, and clinical significance span a wide spectrum, ranging from sub-clinical involvement to liver cirrhosis with its associated complications including portal hypertension. Apart from liver involvement in Gaucher disease, patients with may also suffer from other comorbidities involving the liver. That Gaucher disease itself can mimic hepatic lesions, affect laboratory tests used to characterize liver disease, and may be associated with non-cirrhotic portal hypertension, complicates the diagnostic approach even more. Better understanding of liver involvement in Gaucher disease can spare patients unnecessary invasive testing, and assist physicians in decision making when evaluating patients with Gaucher disease suspected for significant liver disease. This review describes the various clinical manifestations, laboratory and imaging abnormalities that may be encountered when following patients with Gaucher disease for liver involvement. The mechanism for liver disease are discussed, as well as the possible hepato-protective effect of glucocerebroside, and the a diagnostic and treatment approaches. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Clinical and no-clinical setting specificities in first session short-term psychotherapy psychodrama group.

    Science.gov (United States)

    Drakulić, Aleksandra Mindoljević

    2011-03-01

    Modern history of short-term group psychotherapy dates back to the late 1950-ies. From then to present day, this psychotherapeutic method has been used in various forms, from dynamic-oriented to cognitive behavioural psychotherapies. Although it has always been considered rather controversial, due its cost-effectiveness, it has been capturing more and more popularity. This paper presents the specificities of first session short-term psychotherapy psychodrama group through session work with two examined groups: a group of 20 adult women who suffer from mild or moderate forms of unipolar depression and a group of 20 students of the School of Medicine in Zagreb without any psychiatric symptomatology. The results indicate the high importance of having structure in first psychodrama session, of relating it with the previously thoroughly conducted, initial, clinical, interviews, and of the clarity and focus in terms of determining the goals of therapy, especially in a clinical context. This study also confirmed assumptions regarding the need for different approaches of warming-up in psychodrama, both in the clinical and in non-clinical samples. A psychodrama psychotherapist should have good time managing skills and capability to convert the time available into an opportunity for directly boosting the group energy and work on therapeutic alliance.

  2. Long-term potentiation and long-term depression: a clinical perspective

    Directory of Open Access Journals (Sweden)

    Timothy V.P. Bliss

    2011-01-01

    Full Text Available Long-term potentiation and long-term depression are enduring changes in synaptic strength, induced by specific patterns of synaptic activity, that have received much attention as cellular models of information storage in the central nervous system. Work in a number of brain regions, from the spinal cord to the cerebral cortex, and in many animal species, ranging from invertebrates to humans, has demonstrated a reliable capacity for chemical synapses to undergo lasting changes in efficacy in response to a variety of induction protocols. In addition to their physiological relevance, long-term potentiation and depression may have important clinical applications. A growing insight into the molecular mechanisms underlying these processes, and technological advances in non-invasive manipulation of brain activity, now puts us at the threshold of harnessing long-term potentiation and depression and other forms of synaptic, cellular and circuit plasticity to manipulate synaptic strength in the human nervous system. Drugs may be used to erase or treat pathological synaptic states and non-invasive stimulation devices may be used to artificially induce synaptic plasticity to ameliorate conditions arising from disrupted synaptic drive. These approaches hold promise for the treatment of a variety of neurological conditions, including neuropathic pain, epilepsy, depression, amblyopia, tinnitus and stroke.

  3. Clinical significance of adrenal computed tomography in Addison's disease

    International Nuclear Information System (INIS)

    Sun, Zhong-Hua; Nomura, Kaoru; Toraya, Shohzoh; Ujihara, Makoto; Horiba, Nobuo; Suda, Toshihiro; Tsushima, Toshio; Demura, Hiroshi; Kono, Atsushi

    1992-01-01

    Adrenal computed tomographic (CT) scanning was conducted in twelve patients with Addison's disease during the clinical course. In tuberculous Addison's disease (n=8), three of four patients examined during the first two years after disease onset had bilaterally enlarged adrenals, while one of four had a unilaterally enlarged one. At least one adrenal gland was enlarged after onset in all six patients examined during the first four years. Thereafter, the adrenal glands was atrophied bilaterally, in contrast to adrenal glands in idiopathic Addison's disease which was atrophied bilaterally from disease onset (n=2). Adrenal calcification was a less sensitive clue in tracing pathogenesis, i.e., adrenal calcification was observed in five of eight patients with tuberculous Addison's disease, but not idiopathic patients. Thus, adrenal CT scanning could show the etiology of Addison's disease (infection or autoimmunity) and the phase of Addison's disease secondary to tuberculosis, which may be clinically important for initiating antituberculous treatment. (author)

  4. Phenotype and Clinical Course of Inflammatory Bowel Disease with Co-Existent Celiac Disease.

    Science.gov (United States)

    Tse, Chung Sang; Deepak, Parakkal; De La Fuente, Jaime; Bledsoe, Adam C; Larson, Joseph J; Murray, Joseph A; Papadakis, Konstantinos A

    2018-05-07

    Inflammatory bowel diseases, principally Crohn's disease and ulcerative colitis, and celiac disease are among the most common immune-mediated gastrointestinal diseases. We aim to elucidate the clinical course and outcomes of patients with concomitant inflammatory bowel disease and celiac disease, a unique population that remains scarcely studied to date. A retrospective matched case-control study of adults with coexistent inflammatory bowel disease and celiac disease was performed at a tertiary referral institution in North America. Logistic regression and Kaplan-Meier curves compared disease characteristics and clinical outcomes of the two groups. A total of 342 inflammatory bowel disease patients were included in this study, of which 114 had coexistent celiac disease and 228 did not. Patients with coexistent inflammatory bowel disease and celiac disease had higher rates of primary sclerosing cholangitis (19.3% vs 5.7%; odds ratio, 4.4; 95% confidence interval, 2.1-9.4; pceliac disease (10.5% vs 3.5%; odds ratio 3.2; 95% confidence interval 1.3-8.2; p=0.01), compared to patients without concomitant celiac disease. Patients with inflammatory bowel disease with concomitant celiac disease have unique phenotypic features compared to non-celiac inflammatory bowel disease, with higher risks for colitis-related hospitalizations, extensive colitis, and primary sclerosing cholangitis. Increased recognition of coexistent IBD and celiac disease can prompt clinicians to investigate for concomitant disease sooner, particularly in patients with seemingly refractory disease.

  5. Inherited Retinal Degenerative Disease Clinical Trial Network

    Science.gov (United States)

    2012-10-01

    diseases and dry AMD; • Established patient databases at the University of Utah and University of Medicine and Dentistry of New Jersey CTECs, classified...Scholl: Emily Fletcher, Rupert Strauss, Yulia Wolfson, Stacey Seabrook Wilmer Biostatistics Center: Ann Ervin, Beatriz Munoz Reading Center

  6. Clinical aspects of rheumatic diseases in children

    International Nuclear Information System (INIS)

    Saenger, L.

    1978-01-01

    Rheumatic fever is no longer the most problematic of rheumatic diseases as it poses some diagnostic, but no radiological problems. The most problematic are chronic inflammatory processes of the joints. Here, the fate in life of the child patients does indeed depend upon an exact diagnosis. (orig./AJ) [de

  7. Clinical Characteristics and Associated Systemic Diseases in Patients With Esophageal "Absent Contractility"-A Clinical Algorithm.

    Science.gov (United States)

    Laique, Sobia; Singh, Tavankit; Dornblaser, David; Gadre, Abhishek; Rangan, Vikram; Fass, Ronnie; Kirby, Donald; Chatterjee, Soumya; Gabbard, Scott

    2018-01-19

    This study was carried out to assess the clinical characteristics and associated systemic diseases seen in patients diagnosed with absent contractility as per the Chicago Classification version 3.0, allowing us to propose a diagnostic algorithm for their etiologic testing. The Chicago Classification version 3.0 has redefined major and minor esophageal motility disorders using high-resolution esophageal manometry. There is a dearth of publications based on research on absent contractility, which historically has been associated with myopathic processes such as systemic sclerosis (SSc). We conducted a retrospective, multicenter study. Data of patients diagnosed with absent contractility were pooled from Cleveland Clinic, Cleveland, OH (January 2006 to July 2016) and Metrohealth Medical Center, Cleveland, OH (July 2014 to July 2016) and included: age, gender, associated medical conditions, surgical history, medications, and specific antibody testing. A total of 207 patients, including 57 male individuals and 150 female individuals, with mean age of 56.1 and 60.0 years, respectively, were included. Disease distribution was as follows: SSc (diffuse or limited cutaneous) 132, overlap syndromes 7, systemic lupus erythematosus17, Sjögren syndrome 4, polymyositis 3, and dermatomyositis 3. Various other etiologies including gastroesophageal reflux disease, postradiation esophagitis, neuromuscular disorders, and surgical complications were seen in the remaining cohort. Most practitioners use the term "absent contractility" interchangeably with "scleroderma esophagus"; however, only 63% of patients with absent contractility had SSc. Overall, 20% had another systemic autoimmune rheumatologic disease and 16% had a nonrheumatologic etiology for absent contractility. Therefore, alternate diagnosis must be sought in these patients. We propose an algorithm for their etiologic evaluation.

  8. Clinical outcome of Crohn's disease according to the Vienna classification: disease location is a useful predictor of disease course

    NARCIS (Netherlands)

    Oostenbrug, Liekele E.; van Dullemen, Hendrik M.; te Meerman, Gerard J.; Jansen, Peter L. M.; Kleibeuker, Jan H.

    2006-01-01

    OBJECTIVES: Crohn's disease (CD) is a complex genetic disease with multiple clinical patterns. Clinical classifications may help to identify subgroups of patients that have a distinct pattern of disease, and they are also a prerequisite for the conduction of genetic and therapeutic studies. The aim

  9. Clinical outcome of Crohn's disease according to the Vienna classification : disease location is a useful predictor of disease course

    NARCIS (Netherlands)

    Oostenbrug, Liekele E.; van Dullemen, Hendrik M.; te Meerman, Gerard J.; Jansen, Peter L. M.; Kleibeuker, Jan H.

    Objectives Crohn's disease (CD) is a complex genetic disease with multiple clinical patterns. Clinical classifications may help to identify subgroups of patients that have a distinct pattern of disease, and they are also a prerequisite for the conduction of genetic and therapeutic studies. The aim

  10. Long-Term Follow-Up of Impulse Control Disorders in Parkinson’s Disease

    OpenAIRE

    Mamikonyan, Eugenia; Siderowf, Andrew D.; Duda, John E.; Potenza, Marc N.; Horn, Stacy; Stern, Matthew B.; Weintraub, Daniel

    2008-01-01

    Recent studies have linked dopamine agonist (DA) usage with the development of impulse control disorders (ICDs) in Parkinson’s disease (PD). Little is known about optimal management strategies or the long-term outcomes of affected patients. To report on the clinical interventions and long-term outcomes of PD patients who developed an ICD after DA initiation. Subjects contacted by telephone for a follow-up interview after a mean time period of 29.2 months. They were administered a modified Min...

  11. Clinical relevance of sarcopenia in chronic kidney disease

    Science.gov (United States)

    Moorthi, Ranjani N.; Avin, Keith G.

    2018-01-01

    Purpose of review In this article, we review sarcopenia in chronic kidney disease (CKD). We aim to present how definitions of sarcopenia from the general population may pertain to those with CKD, its assessment by clinicians and emerging therapies for sarcopenia in CKD. For this review, we limit our description and recommendations to patients with CKD who are not on dialysis. Recent findings Poorer parameters of lean mass, strength and physical function are associated with worsening patient-centered outcomes such as limiting mobility, falls and mortality in CKD; however, the magnitude of these associations are different in those with and without CKD. Sarcopenia in CKD is a balance between skeletal muscle regeneration and catabolism, which are both altered in the uremic environment. Multiple pathways are involved in these derangements, which are briefly reviewed. Differences between commonly used terms cachexia, frailty, protein-energy wasting, dynapenia and sarcopenia are described. Therapeutic options in predialysis CKD are not well studied; therefore, we review exercise options and emerging pharmacological therapies. Summary Sarcopenia, now with its own International Classification of Diseases, 10th Revision (ICD-10) code, is of importance clinically and should be accounted for in research studies in patients with CKD. Multiple therapies for sarcopenia are in development and will hopefully be available for our patients in the future. PMID:28198733

  12. Current clinical research of immunoglobulin G4-related orbital disease

    Directory of Open Access Journals (Sweden)

    Yang Wang

    2016-05-01

    Full Text Available Immunoglobulin G4-related disease(IgG4-related diseasehas received lots of attention in medical community as a recently recognized fibro-inflammatory condition. It is characterized by infiltration of IgG4-immunopositive plasmacytes and concentration of elevated serum IgG4. IgG4-related disease shows organ enlargement or nodular/hyperplastic lesions in various organs including the pancreas, hepatobiliary tract and orbit, which is called IgG4-related orbital disease. The diagnostic criteria for IgG4-related disease and IgG4-related orbital disease has recently been established, which is based on clinical, imaging and histopathologic features of the orbital lesions. Besides, attention should be drawn to the differentiation from other diseases. The treatment is empirical including corticosteroids, immunosuppressive drugs, radiotherapy, and rituximab. This article reviews clinical progression of IgG4-related orbital disease.

  13. Long-term cost-effectiveness of disease management in systolic heart failure.

    Science.gov (United States)

    Miller, George; Randolph, Stephen; Forkner, Emma; Smith, Brad; Galbreath, Autumn Dawn

    2009-01-01

    Although congestive heart failure (CHF) is a primary target for disease management programs, previous studies have generated mixed results regarding the effectiveness and cost savings of disease management when applied to CHF. We estimated the long-term impact of systolic heart failure disease management from the results of an 18-month clinical trial. We used data generated from the trial (starting population distributions, resource utilization, mortality rates, and transition probabilities) in a Markov model to project results of continuing the disease management program for the patients' lifetimes. Outputs included distribution of illness severity, mortality, resource consumption, and the cost of resources consumed. Both cost and effectiveness were discounted at a rate of 3% per year. Cost-effectiveness was computed as cost per quality-adjusted life year (QALY) gained. Model results were validated against trial data and indicated that, over their lifetimes, patients experienced a lifespan extension of 51 days. Combined discounted lifetime program and medical costs were $4850 higher in the disease management group than the control group, but the program had a favorable long-term discounted cost-effectiveness of $43,650/QALY. These results are robust to assumptions regarding mortality rates, the impact of aging on the cost of care, the discount rate, utility values, and the targeted population. Estimation of the clinical benefits and financial burden of disease management can be enhanced by model-based analyses to project costs and effectiveness. Our results suggest that disease management of heart failure patients can be cost-effective over the long term.

  14. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2010-04-28

    Abstract Background The encephalopathy associated with autoimmune thyroid disease (EAATD) is characterized by neurological\\/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto\\'s thyroiditis (HT), although fourteen EAATD patients with Graves\\' disease (GD) have been also reported. Methods We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. Results Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. Conclusions GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  15. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes.

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2012-02-01

    BACKGROUND: The encephalopathy associated with autoimmune thyroid disease (EAATD) is characterized by neurological\\/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto\\'s thyroiditis (HT), although fourteen EAATD patients with Graves\\' disease (GD) have been also reported. METHODS: We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. RESULTS: Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. CONCLUSIONS: GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  16. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes

    Directory of Open Access Journals (Sweden)

    Lee Byung I

    2010-04-01

    Full Text Available Abstract Background The encephalopathy associated with autoimmune thyroid disease (EAATD is characterized by neurological/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto's thyroiditis (HT, although fourteen EAATD patients with Graves' disease (GD have been also reported. Methods We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. Results Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. Conclusions GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  17. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes.

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2010-01-01

    BACKGROUND: The encephalopathy associated with autoimmune thyroid disease (EAATD) is characterized by neurological\\/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto\\'s thyroiditis (HT), although fourteen EAATD patients with Graves\\' disease (GD) have been also reported. METHODS: We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. RESULTS: Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. CONCLUSIONS: GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  18. Technical and clinical view on ambulatory assessment in Parkinson's disease.

    Science.gov (United States)

    Hobert, M A; Maetzler, W; Aminian, K; Chiari, L

    2014-09-01

    With the progress of technologies of recent years, methods have become available that use wearable sensors and ambulatory systems to measure aspects of--particular axial--motor function. As Parkinson's disease (PD) can be considered a model disorder for motor impairment, a significant number of studies have already been performed with these patients using such techniques. In general, motion sensors such as accelerometers and gyroscopes are used, in combination with lightweight electronics that do not interfere with normal human motion. A fundamental advantage in comparison with usual clinical assessment is that these sensors allow a more quantitative, objective, and reliable evaluation of symptoms; they have also significant advantages compared to in-lab technologies (e.g., optoelectronic motion capture) as they allow long-term monitoring under real-life conditions. In addition, based on recent findings particularly from studies using functional imaging, we learned that non-motor symptoms, specifically cognitive aspects, may be at least indirectly assessable. It is hypothesized that ambulatory quantitative assessment strategies will allow users, clinicians, and scientists in the future to gain more quantitative, unobtrusive, and everyday relevant data out of their clinical evaluation and can also be designed as pervasive (everywhere) and intensive (anytime) tools for ambulatory assessment and even rehabilitation of motor and (partly) non-motor symptoms in PD. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Mitochondrial Diseases: Clinical Features- Management of Patients

    Directory of Open Access Journals (Sweden)

    Filiz Koc

    2003-02-01

    Full Text Available Mitochondria are unique organells which their own DNA in cells. Human mitochondrial DNA is circular, double-stranded molecule and small. Because all mitochondria are contributed by the ovum during the formation of the zygote, the mitochondrial genom is transmitted by maternal inheritance. Multisystem disorders such as deafness, cardiomyopathy, miyopathy can be seen in mitochondrial diseases. [Archives Medical Review Journal 2003; 12(0.100: 14-31

  20. Design and validation of a clinical-scale bioreactor for long-term isolated lung culture.

    Science.gov (United States)

    Charest, Jonathan M; Okamoto, Tatsuya; Kitano, Kentaro; Yasuda, Atsushi; Gilpin, Sarah E; Mathisen, Douglas J; Ott, Harald C

    2015-06-01

    The primary treatment for end-stage lung disease is lung transplantation. However, donor organ shortage remains a major barrier for many patients. In recent years, techniques for maintaining lungs ex vivo for evaluation and short-term (advance to more complex interventions for lung repair and regeneration, the need for a long-term organ culture system becomes apparent. Herein we describe a novel clinical scale bioreactor capable of maintaining functional porcine and human lungs for at least 72 h in isolated lung culture (ILC). The fully automated, computer controlled, sterile, closed circuit system enables physiologic pulsatile perfusion and negative pressure ventilation, while gas exchange function, and metabolism can be evaluated. Creation of this stable, biomimetic long-term culture environment will enable advanced interventions in both donor lungs and engineered grafts of human scale. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. A New Resource for STD Clinical Providers: The Sexually Transmitted Diseases Clinical Consultation Network.

    Science.gov (United States)

    Caragol, Laura A; Wendel, Karen A; Anderson, Teri S; Burnside, Helen C; Finkenbinder, Allison; Fitch, John D; Kelley, Destiny H; Stewart, Terry W; Thrun, Mark; Rietmeijer, Cornelis A

    2017-08-01

    An online consultation tool, the Sexually Transmitted Diseases Clinical Consultation Network is a new resource for sexually transmitted disease clinicians and clinic managers. An initial evaluation shows that most requests (29%) were from medical doctors, followed by nurse practitioners (22%). Syphilis queries comprised 39% of consults followed by gonorrhea (12%) and chlamydia (11%).

  2. [Predictors of long-term remission after transsphenoidal surgery in Cushing's disease].

    Science.gov (United States)

    Abellán Galiana, Pablo; Fajardo Montañana, Carmen; Riesgo Suárez, Pedro Antonio; Gómez Vela, José; Escrivá, Carlos Meseguer; Lillo, Vicente Rovira

    2013-10-01

    There is no consensus on the remission criteria for Cushing's disease or on the definition of disease recurrence after transsphenoidal surgery, and comparison of the different published series is therefore difficult. A long-term recurrence rate of Cushing's disease ranging from 2%-25% has been reported. Predictors of long-term remission reported include: 1) adenoma-related factors (aggressiveness, size, preoperative identification in MRI), 2) surgery-related factors, mainly neurosurgeon experience, 3) clinical factors, of which dependence on and duration of glucocorticoid treatment are most important, and 4) biochemical factors. Among the latter, low postoperative cortisol levels, less than 2 mcg/dL predict for disease remission. However, even when undetectable plasma cortisol levels are present, long-term recurrence may still occur and lifetime follow-up is required. We report the preliminary results of the first 20 patients with Cushing's disease operated on at our hospital using nadir cortisol levels less than 2 mcg/dl as remission criterion. Copyright © 2012 SEEN. Published by Elsevier Espana. All rights reserved.

  3. [Inflammatory brain diseases in clinical practice].

    Science.gov (United States)

    Lungwitz, J; Voigt, W

    1984-06-01

    Over a period of twenty years all cases of inflammatory diseases treated in a neurological intensive-care unit were analysed in retrospective. For 90 cases of purulent bacterial meningitis, letality amounted to 30%. The need for agent-oriented, intensive early treatment is discussed. At a reduced incidence of tuberculosis, meningitis tuberculosa is generally neglected. In the majority of cases patients suffering from "encephalitic syndrome" make high demands on intensive-therapeutic concepts, including interdisciplinary cooperation, due to high complication-rates and lack of causal therapy. In 95 cases, letality also amounted to 30%.

  4. Radiation induced liver disease: A clinical update

    International Nuclear Information System (INIS)

    Benson, R.; Madan, R.; Chander, S.; Kilambi, R.

    2016-01-01

    Radiation-induced liver disease (RILD) or radiation hepatitis is a sub-acute form of liver injury due to radiation. It is one of the most dreaded complications of radiation which prevents radiation dose escalation and re irradiation for hepatobiliary or upper gastrointestinal malignancies. This complication should be kept in mind whenever a patient is planned for irradiation of these malignancies. Although, incidence of RILD is decreasing due to better knowledge of liver tolerance, improved investigation modalities and modern radiation delivery techniques, treatment options are still limited. In this review article, we have focussed on pathophysiology, risk factors, prevention and management of RILD

  5. Sickle Cell Disease with Cyanotic Congenital Heart Disease: Long-Term Outcomes in 5 Children.

    Science.gov (United States)

    Iannucci, Glen J; Adisa, Olufolake A; Oster, Matthew E; McConnell, Michael; Mahle, William T

    2016-12-01

    Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction. The surviving patient had developmental delays. On the basis of this series, we suggest mitigating hypoxemia, and thus the risk of stroke, in patients who have sickle cell disease and cyanotic congenital heart disease. Potential therapies include chronic blood transfusions, hydroxyurea, earlier surgical correction to reduce the duration of hypoxemia, and heart or bone marrow transplantation.

  6. Periodontal disease in diabetic patients - clinical and histopathological aspects.

    Science.gov (United States)

    Corlan Puşcu, Dorina; Ciuluvică, Radu Constantin; Anghel, Andreea; Mălăescu, Gheorghe Dan; Ciursaş, Adina Nicoleta; Popa, Gabriel Valeriu; Agop Forna, Doriana; Busuioc, Cristina Jana; Siloşi, Izabela

    2016-01-01

    Periodontal disease is one of the most frequent diseases affecting people all over the world. The relation between periodontal disease and diabetes mellitus raised the interest both of dentists and doctors treating metabolic diseases, as the two conditions influence one another. In our study, we analyzed a number of 75 patients with diabetes mellitus and periodontal disease that presented to the medical consultory for conditions of the dental maxillary system. The clinical study showed that periodontal disease and diabetes may affect young adults as well, still this pathological association more frequently appears after the age of 50. The disease was identified especially in the women living in urban area. The clinical examination of the dental maxillary system identified the presence of gingival ulcerations, dental calculus, gingival bleeding, radicular leftovers with anfractuous margins, fixed prostheses with an inappropriate cervical adjustment. Of the systemic diseases associated to periodontal disease and diabetes mellitus, there was observed that 66.66% of the patients also suffered from cardiovascular diseases (high blood pressure, ischemic cardiopathy, heart failure), and 37.33% suffered from obesity. The histopathological and immunohistochemical tests highlighted the presence of an inflammatory chronic, intense reaction, mainly formed of lymphocytes, plasmocytes, macrophages and granulocytes, heterogeneously disseminated and alteration of the structure of marginal and superficial periodontium. The inflammatory reaction in the patients with periodontal disease and diabetes was more intense than in the patients with periodontal disease without diabetes.

  7. Graves Disease And Down Sindrome : Clinical Case

    Directory of Open Access Journals (Sweden)

    Scrinic Olesea

    2015-08-01

    Full Text Available Introduction: Pacients with Down’s syndrome present an increase revalence of autoimune endocrine disorders. We communicate the case of 14 years and 6 months old pacient known with Down syndrome admitted in Endocrinology department with suspicion of hyperthyroidism, the diagnosis being confirmed by hormonal dosage. The particularity of the case consists in: symptomatology onset during puberty, clinical evolution with mild symptoms, without ocular involvement, morphological and functional remission obtained relatively soon after the initiation of antithyroid therapy, lack of posttherapy side effects, favorabile evolution under the “block and replace” therapy

  8. [Clinical microbiology laboratory and imported parasitic diseases].

    Science.gov (United States)

    Martín-Rabadán, Pablo; Martínez-Ruiz, Rocío; Cuadros, Juan; Cañavate, Carmen

    2010-12-01

    Imported parasitosis represents an increasingly frequent diagnostic challenge for microbiology laboratories. A surge in immigration and international travel has led to a rise in the number of imported cases of parasitosis, and this trend is expected to continue in the future. The present article addresses this challenge by reviewing recommended diagnostic approaches and tests. Currently, microscopy is always recommended when analysing blood samples for parasites. If malaria is suspected, rapid antigen testing (including at least HRP2 antigen) should also be performed. The work-up for suspected leishmaniasis should include serology, culture, and in selected cases detection of antigen in urine. In suspected Chagas disease, two different serological tests should be performed. PCR for blood protozoa is highly sensitive, although it cannot be used to rule out Chagas disease, since this condition may be present without parasitemia. Accurate diagnosis of intestinal amebiasis usually requires PCR or antigen detection tests. In helminthiasis, traditional microscopy may need to be complemented with other tests, such as agar plate culture for strongyloidiasis, Og4C3 antigen detection for bancroftian filariasis, and antibody detection test for filariasis and schistosomiasis. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  9. Clinical utility of carotid and transcranial ultrasound in cerebrovascular diseases

    Directory of Open Access Journals (Sweden)

    Figueiredo L

    2014-08-01

    Full Text Available Lívia Figueiredo, Viviane F Zétola, Marcos C Lange Neurology Division, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil Abstract: Carotid and transcranial (CTU ultrasound is a useful tool in a number of clinical settings, particularly in cerebrovascular diseases. CTU is the only method that provides real-time determination of velocity and the spectral waveform of blood flow in the extracranial and basal intracranial arteries, and is effective in the detection of stenosis and occlusion. When transcranial ultrasound is considered, CTU is the only method that allows visualization of microembolic signals in the intracranial arteries. CTU makes a rapid differential diagnosis possible, improving therapeutic decision-making in acute stroke and determining the risk of recurrence and prognosis based on its findings. It is also the standard of care in children with sickle cell disease, when selecting patients for chronic blood transfusion, and for reducing the risk of ischemic stroke in these patients. CTU has some advantages, ie, relative simplicity in terms of interpretation and performance, and affordability, noninvasiveness, and portability. The main concern with ultrasound is that it is an operator-dependent tool and requires a high level of expertise and knowledge of three-dimensional cerebrovascular anatomy for correct interpretation of sonograms. The most significant limitation of intracranial evaluation by transcranial ultrasound is the absence of a suitable bone window in approximately 10% of patients. This paper gives an overview of the current utility and importance of CTU in the prevention and evaluation of ischemic cerebrovascular disease. Keywords: transcranial Doppler ultrasonography, Doppler ultrasonography duplex, cerebrovascular disorders, stroke

  10. The clinical profile of idiopathic Parkinson's disease in a South ...

    African Journals Online (AJOL)

    The clinical profile of idiopathic Parkinson's disease in a South African hospital complex - the influence of ethnicity and gender. Marcelle Smith, Girish Modi. Abstract. Background Idiopathic Parkinson's Disease (IPD) has not been well studied in Black African populations. Data on the demographics, phenotype differences ...

  11. Infections Disease in the Dental Clinical Nigerian Dentists ...

    African Journals Online (AJOL)

    The dental clinic is a potential source of transmission of infectious disease due to the invasive nature of many dental procedures. Infectious disease therefore constitutes serious occupational hazards to all oral health care workers. This descriptive study aims to assess the knowledge of dentists on common transmissible ...

  12. Peyronie's disease - a perspective on the disease and the long-term ...

    African Journals Online (AJOL)

    Abstract FrOIIl 1966 to 1988, 98 of 108 patients with sYIIlP- to=atic Peyronie's disease received radiotherapy at our institution. In 11 of 61 patients (18%) who attended the clinic regularly for follow-up for longer than a year, new lesions distinct frOIIl the original lesions developed. This confirms that there is progression.

  13. Obesity in Women: The Clinical Impact on Gastrointestinal and Reproductive Health and Disease Management.

    Science.gov (United States)

    Pickett-Blakely, Octavia; Uwakwe, Laura; Rashid, Farzana

    2016-06-01

    Approximately 36% of adult women in the United States are obese. Although obesity affects women similarly to men in terms of prevalence, there seem to be gender-specific differences in the pathophysiology, clinical manifestations, and treatment of obesity. Obesity is linked to comorbid diseases involving multiple organ systems, including the gastrointestinal tract, like gastroesophageal reflux disease, fatty liver disease, and gallstones. This article focuses on obesity in women, specifically the impact of obesity on gastrointestinal diseases and reproductive health, as well as the treatment of obesity in women. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Clinical evaluation of SPECT in cerebrovascular disease

    International Nuclear Information System (INIS)

    Oshibuchi, Masao; Satoh, Mitsutaka; Kanda, Tetsuro; Nishi, Fumiaki; Yamane, Kanji; Fujimatsu, Masahiko; Edamitsu, Satoshi; Anno, Yasuro; Ohtake, Hisashi.

    1989-01-01

    In 131 patients with cerebrovascular disease, regional cerebral blood flow were determined by 123 I-IMP (N-isopropyl ( 123 I)-iodoamphetamine) or 99m Tc-HM-PAO ( 99m Tc (d, 1)-hexamethyl propyleneamine oxime) SPECT and findings were compared with those of X-CT or MRI. The perfusion deficit detected by SPECT was larger than the deficit by X-CT or MRI in every case. The perfusion deficit area was more clearly demonstrated by SPECT than by X-CT or MRI in patients with acute cerebral infarction. The hypoperfusion area determined by 123 I-IMP SPECT was wider than that by 99m Tc-HM-PAO SPECT. The crossed cerebellar diaschisis was observed in 56 out of 131 cases (43%). The results of operation were quantitatively evaluated by 123 I-IMP SPECT in 25 patients. (author)

  15. ETIOLOGY, PATHOGENESIS AND CLINICAL DIAGNOSIS OF PEYRONIE’S DISEASE

    Directory of Open Access Journals (Sweden)

    Тарас Валерьевич Шатылко

    2017-03-01

    Full Text Available Peyronie’s disease remains an understudied progressing disease being  one of the relevant problems of modern urology and andrology. This condition may cause erectile dysfunction in men of fertile age and its negative impact on sexual function adversely affects patients’ quality of life. This article reviews epidemiology, pathophysiology and specifics of recording history and clinical diagnosis of Peyronie’s disease, that includes questionnaires, physical examination, evaluation of erectile function and penile deformity.

  16. Early diagnosis of Alzheimer's disease. Clinical significance and future perspectives

    International Nuclear Information System (INIS)

    Buerger, K.; Teipel, S.J.; Hampel, H.

    2000-01-01

    Early diagnosis of Alzheimer's disease describes the recognition and diagnosis in patients with very mild dementia. Internationally accepted diagnostic criteria support the diagnosis based on clinical evaluation. Recent advances in structural and functional neuroimaging as well as studies on specific proteins in the cerebro-spinal fluid that are related to distinct pathophysiological disease processes are most promising approaches to defining biological markers of Alzheimer's disease. (orig.) [de

  17. Clinical Course of Acute Pancreatitis in Chronic Kidney Disease ...

    African Journals Online (AJOL)

    Introduction: The aim of this study was to assess the clinical course, etiology and complications of acute pancreatitis among chronic kidney disease (CKD) patients in a tertiary care renal center in Karachi. Methods: We retrospectively evaluated the clinical course of CKD patients who presented to our emergency room with ...

  18. Clinical and genetic data of Huntington disease in Moroccan patients

    African Journals Online (AJOL)

    Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10 /100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin. Methods: Clinical ...

  19. Clinical Features and Pattern of Presentation of Breast Diseases in ...

    African Journals Online (AJOL)

    Objective: To characterize the clinical features and pattern of presentation of breast diseases as observed in our practice. Materials and Methods: A prospective study of 121 consecutive patients with breast complaints presenting in our Surgical Outpatient Clinics. The relevant data were collected by two surgeons using the ...

  20. PubMed-supported clinical term weighting approach for improving inter-patient similarity measure in diagnosis prediction.

    Science.gov (United States)

    Chan, Lawrence Wc; Liu, Ying; Chan, Tao; Law, Helen Kw; Wong, S C Cesar; Yeung, Andy Ph; Lo, K F; Yeung, S W; Kwok, K Y; Chan, William Yl; Lau, Thomas Yh; Shyu, Chi-Ren

    2015-06-02

    Similarity-based retrieval of Electronic Health Records (EHRs) from large clinical information systems provides physicians the evidence support in making diagnoses or referring examinations for the suspected cases. Clinical Terms in EHRs represent high-level conceptual information and the similarity measure established based on these terms reflects the chance of inter-patient disease co-occurrence. The assumption that clinical terms are equally relevant to a disease is unrealistic, reducing the prediction accuracy. Here we propose a term weighting approach supported by PubMed search engine to address this issue. We collected and studied 112 abdominal computed tomography imaging examination reports from four hospitals in Hong Kong. Clinical terms, which are the image findings related to hepatocellular carcinoma (HCC), were extracted from the reports. Through two systematic PubMed search methods, the generic and specific term weightings were established by estimating the conditional probabilities of clinical terms given HCC. Each report was characterized by an ontological feature vector and there were totally 6216 vector pairs. We optimized the modified direction cosine (mDC) with respect to a regularization constant embedded into the feature vector. Equal, generic and specific term weighting approaches were applied to measure the similarity of each pair and their performances for predicting inter-patient co-occurrence of HCC diagnoses were compared by using Receiver Operating Characteristics (ROC) analysis. The Areas under the curves (AUROCs) of similarity scores based on equal, generic and specific term weighting approaches were 0.735, 0.728 and 0.743 respectively (p PubMed. Our findings suggest that the optimized similarity measure with specific term weighting to EHRs can improve significantly the accuracy for predicting the inter-patient co-occurrence of diagnosis when compared with equal and generic term weighting approaches.

  1. Gastrointestinal Symptoms in Celiac Disease Patients on a Long-Term Gluten-Free Diet.

    Science.gov (United States)

    Laurikka, Pilvi; Salmi, Teea; Collin, Pekka; Huhtala, Heini; Mäki, Markku; Kaukinen, Katri; Kurppa, Kalle

    2016-07-14

    Experience suggests that many celiac patients suffer from persistent symptoms despite a long-term gluten-free diet (GFD). We investigated the prevalence and severity of these symptoms in patients with variable duration of GFD. Altogether, 856 patients were classified into untreated (n = 128), short-term GFD (1-2 years, n = 93) and long-term GFD (≥3 years, n = 635) groups. Analyses were made of clinical and histological data and dietary adherence. Symptoms were evaluated by the validated GSRS questionnaire. One-hundred-sixty healthy subjects comprised the control group. Further, the severity of symptoms was compared with that in peptic ulcer, reflux disease, inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS). Altogether, 93% of the short-term and 94% of the long-term treated patients had a strict GFD and recovered mucosa. Untreated patients had more diarrhea, indigestion and abdominal pain than those on GFD and controls. There were no differences in symptoms between the short- and long-term GFD groups, but both yielded poorer GSRS total score than controls (p = 0.03 and p = 0.05, respectively). Furthermore, patients treated 1-2 years had more diarrhea (p = 0.03) and those treated >10 years more reflux (p = 0.04) than controls. Long-term treated celiac patients showed relatively mild symptoms compared with other gastrointestinal diseases. Based on our results, good response to GFD sustained in long-term follow-up, but not all patients reach the level of healthy individuals.

  2. Influence of cerebrovascular disease on brain networks in prodromal and clinical Alzheimer's disease.

    Science.gov (United States)

    Chong, Joanna Su Xian; Liu, Siwei; Loke, Yng Miin; Hilal, Saima; Ikram, Mohammad Kamran; Xu, Xin; Tan, Boon Yeow; Venketasubramanian, Narayanaswamy; Chen, Christopher Li-Hsian; Zhou, Juan

    2017-11-01

    Network-sensitive neuroimaging methods have been used to characterize large-scale brain network degeneration in Alzheimer's disease and its prodrome. However, few studies have investigated the combined effect of Alzheimer's disease and cerebrovascular disease on brain network degeneration. Our study sought to examine the intrinsic functional connectivity and structural covariance network changes in 235 prodromal and clinical Alzheimer's disease patients with and without cerebrovascular disease. We focused particularly on two higher-order cognitive networks-the default mode network and the executive control network. We found divergent functional connectivity and structural covariance patterns in Alzheimer's disease patients with and without cerebrovascular disease. Alzheimer's disease patients without cerebrovascular disease, but not Alzheimer's disease patients with cerebrovascular disease, showed reductions in posterior default mode network functional connectivity. By comparison, while both groups exhibited parietal reductions in executive control network functional connectivity, only Alzheimer's disease patients with cerebrovascular disease showed increases in frontal executive control network connectivity. Importantly, these distinct executive control network changes were recapitulated in prodromal Alzheimer's disease patients with and without cerebrovascular disease. Across Alzheimer's disease patients with and without cerebrovascular disease, higher default mode network functional connectivity z-scores correlated with greater hippocampal volumes while higher executive control network functional connectivity z-scores correlated with greater white matter changes. In parallel, only Alzheimer's disease patients without cerebrovascular disease showed increased default mode network structural covariance, while only Alzheimer's disease patients with cerebrovascular disease showed increased executive control network structural covariance compared to controls. Our

  3. IMPULSIVE-COMPULSIVE DISORDERS IN PARKINSON'S DISEASE. CLINICAL CASES

    OpenAIRE

    N. V. Fedorova; A. V. Nikitina

    2015-01-01

    Objective – a description of clinical cases of impulsive­compulsive disorders in Parkinson,s disease. The first clinical case. Patient N., 75 years old, suffering for 15 years from Parkinson,s disease, akinetic­rigid form of the disease, stage 4 by Hyun–Yar. Since 2009, he received levodopa/carbidopa 250/25 mg 5 times/day (daily dose of 1250 mg of levodopa); pramipexole 3.5 mg per day (daily dose 3.5 mg), amantadine sulfate 100 mg 5 times/day (daily dose 500 mg). While taking antiparkinsonian...

  4. Clinical and imaging diagnosis for heredodegenerative diseases.

    Science.gov (United States)

    Boddaert, Nathalie; Brunelle, Francis; Desguerre, Isabelle

    2013-01-01

    Clinical features (progressive psychomotor retardation, seizures, movement disorders and motor signs in both central and peripheral systems, sensorineural defects, and psychiatric symptoms) and brain imaging are the keys to diagnosis. CT is indicated for the detection of calcifications and blood, and for angiography. MRI in all three axes requires T1, T2, FLAIR (from 1 year on), eventually T2* or contrast administration, and diffusion in any acute condition. MR spectroscopy allows the dectection of lactate and creatine deficiency, elevated choline in high membrane turnover, and low NAA in neuronal death. The normal sequence of myelination needs to be taken into account. Pre- and neonatal anomalies include cystic and basal ganglia lesions, gyral and myelin anomalies, callosal agenesis, and large subdural spaces. Anomalies disclosed after 3 months of age include basal ganglia appearing hyper- or hypointense on T2, hypointense on T2*, or calcified white matter anomalies mainly periventricular or subcortical, or with contrast enhancement, associated with macrocephaly and/or large or very small cysts, and hypomyelination; there may be "vascular" or pseudostroke disorders, cortical atrophy, hypoplasia, or abnormal signal of the brainstem and/or cerebellum. Spectroscopy should investigate basal ganglia, white matter, and the cerebellum. MRI may reveal typical alterations of the brain at the preclinical stage in siblings of affected children. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Ethical clinical translation of stem cell interventions for neurologic disease

    DEFF Research Database (Denmark)

    Cote, David J; Bredenoord, Annelien L; Smith, Timothy R

    2017-01-01

    The application of stem cell transplants in clinical practice has increased in frequency in recent years. Many of the stem cell transplants in neurologic diseases, including stroke, Parkinson disease, spinal cord injury, and demyelinating diseases, are unproven-they have not been tested...... in prospective, controlled clinical trials and have not become accepted therapies. Stem cell transplant procedures currently being carried out have therapeutic aims, but are frequently experimental and unregulated, and could potentially put patients at risk. In some cases, patients undergoing such operations...... are not included in a clinical trial, and do not provide genuinely informed consent. For these reasons and others, some current stem cell interventions for neurologic diseases are ethically dubious and could jeopardize progress in the field. We provide discussion points for the evaluation of new stem cell...

  6. Treatment of clinically diagnosed laryngopharyngeal reflux disease.

    Science.gov (United States)

    Youssef, Tarek Fouad; Ahmed, Mohamed Rifaat

    2010-11-01

    To determine the incidence of Helicobacter pylori (HP) stool antigen (HPSA) in patients with laryngopharyngeal reflux disease (LPRD), and to make a comparison of 2 treatment regimens that have been used based on the presence or absence of HPSA positivity in patients with LPRD. Randomized controlled study. Suez Canal University Hospital, Ismalia, Egypt. A total of 212 patients with symptoms of LPRD. Patients were evaluated by laryngoscopy, ambulatory pH monitoring for 24 hours, and HPSA testing. Esomeprazole magnesium as a monotherapy was evaluated vs triple therapy in patients with HP infection. To determine the incidence of HPSA in patients with LPRD, and to make a comparison of 2 treatment regimens that have been used based on the presence or absence of HPSA positivity in patients with LPRD. Persistent dry cough and a feeling of a lump in the throat (globus sensation) were the most frequent symptoms of LPRD, while posterior laryngeal inflammation was the main laryngoscopic finding. Results from the HPSA test were positive in 57% of the studied group. Patients with negative HPSA were treated with esomeprazole as single modality with a reported improvement score of 96.6%. Patients with positive HPSA test results were divided into 2 groups: 1 received only esomeprazole, with reported improvement in 40%, whereas the second group was treated with esomeprazole, plus amoxicillin sodium and clarithromycin (triple therapy) and reported a 90% incidence of symptom improvement. The incidence of HP infection in patients with LPRD in our study was 57%. Triple therapy showed a higher cure rate in patients with HPSA-positive test results.

  7. Long-term clinical outcomes in patients diagnosed with severe digital ischemia.

    Science.gov (United States)

    Keo, Hong H; Umer, Melika; Baumgartner, Iris; Willenberg, Torsten; Gretener, Silvia B

    2011-02-18

    To investigate the aetiology and long-term clinical outcomes of patients diagnosed with digital ischemia. Data of 36 consecutive patients presenting with digital ischemia were collected in July 2000 to June 2001 from a vascular referral centre. Demographic data, aetiology, medication and treatment were abstracted from the medical records. Clinical outcomes were assessed at 5 year follow-up including ulcer healing, digital amputation and mortality. Of the 36 patients, 69.4% were male and the mean age was 55±14 years. In 15 patients (41.7%) a systemic disease was present and of those 53.3% was due to connective tissue disease. Twelve patients (33.3%) had hypothenar hammer syndrome and in 8 patients (22.2%) no apparent cause was found. Whereas 13 patients (36.1%) presented with rest pain or trophic lesions at baseline, no patients presented with these symptoms at follow-up. At follow-up, 18 (62.1%) patients had symptoms on provocation and 5 patients (4 patients with systemic disease and 1 with no apparent cause) had died. Digital amputation was performed in one patient at initial presentation and no digital amputation was performed at follow-up. No ulcer reoccurred and no workers' insurance compensation was applied. Of those with hypothenar hammer syndrome, 80.0% had symptoms on provocation at follow-up. Among patients with digital ischemia, systemic disease and hypothenar hammer syndrome were the most frequent aetiologies. In patients with hypothenar hammer syndrome the clinical outcome was remarkably benign, although symptoms may persist with provocation, whereas patients with systemic disease have a high mortality rate.

  8. [Clinical Tests Testing New Therapies for Stargardt Disease].

    Science.gov (United States)

    Kousal, B; Ďuďáková, Ľ; Hlavatá, L; Lišková, P

    2016-02-01

    To provide information on currently ongoing clinical trials for Stargardt disease. We have searched the clinical trial register (www.clinicaltrials.gov) for the keyword "Stargardt" and list active ongoing studies. There are currently eight registered clinical trials enrolling patients with Stargardt disease; all in phase I or II aiming at four mechanisms of action: inhibition of the production of vitamin A toxic dimers, gene therapy restoring wild type transcription of the ABCA4 gene, neuroprotection preventing retinal cells from oxidative damage, and replacement of the damaged retinal pigment epithelium using stem cell therapy. The basic prerequisite for enrolment in the vast majority of clinical trials is confirmation of the clinical diagnosis by mutational analysis. The wide variety of therapies that are registered as clinical trials for Stargardt disease significantly raises the possibility that effective treatments will be available in the near future for this currently incurable condition and that molecular genetic testing should be increasingly considered. Stargardt disease, clinical trial, ABCA4, mutation.

  9. Successful long-term treatment of Cushing disease with mifepristone (RU486).

    Science.gov (United States)

    Basina, Marina; Liu, Hau; Hoffman, Andrew R; Feldman, David

    2012-01-01

    We describe a girl with Cushing disease for whom surgery and radiation treatments failed and the subsequent clinical course with mifepristone therapy. We present the patient's clinical, biochemical, and imaging findings. A 16-year-old girl presented with classic Cushing disease. After transsphenoidal surgery, Cyberknife radiosurgery, ketoconazole, and metyrapone did not control her disease, and she was prescribed mifepristone, which was titrated to a maximal dosage of 1200 mg daily with subsequent symptom improvement. Mifepristone (RU486) is a high-affinity, nonselective antagonist of the glucocorticoid receptor. There is limited literature on its use as an off-label medication to treat refractory Cushing disease. Over her 8-year treatment with mifepristone, her therapy was complicated by hypertension and hypokalemia requiring spironolactone and potassium chloride. She received a 2-month drug holiday every 4 to 6 months to allow for withdrawal menstrual bleeding with medroxyprogesterone acetate. Urinary cortisol, serum cortisol, and corticotropin levels remained elevated during mifepristone drug holidays. While on mifepristone, her signs and symptoms of Cushing disease resolved. Repeated magnetic resonance imaging demonstrated stable appearance of the residual pituitary mass. Bilateral adrenalectomy was performed, and mifepristone was discontinued after 95 months of medical therapy. We describe the longest duration of mifepristone therapy thus reported for the treatment of refractory Cushing disease. Mifepristone effectively controlled all signs and symptoms of hypercortisolism. Menstruating women who take the drug on a long-term basis should receive periodic drug holidays to allow for menses. The lack of reliable serum biomarkers to monitor the success of mifepristone therapy requires careful clinical judgment and may make its use difficult in Cushing disease.

  10. Cyclosporine therapy in inflammatory bowel disease: short-term and long-term results.

    Science.gov (United States)

    Gurudu, S R; Griffel, L H; Gialanella, R J; Das, K M

    1999-09-01

    Intravenous cyclosporine therapy followed by oral cyclosporine therapy reduce the need for urgent surgery in steroid-refractory inflammatory bowel disease (IBD). Our objective is to report short- and long-term results of cyclosporine therapy in IBD patients. Thirteen patients with steroid-refractory IBD, seven patients with ulcerative colitis (UC), and six patients with Crohn's disease (CD) were treated with intravenous cyclosporine (4 mg/kg/day) for a mean period of 11.4+/-2.8 days (range, 4-15 days). Subsequently the patients were started on oral cyclosporine (8 mg/kg/day) and followed for a mean of 10.3+/-10 months (range, 1-30 months). Twelve patients responded to intravenous cyclosporine therapy. One patient with UC developed sepsis on the fourth day of intravenous cyclosporine therapy and needed urgent colectomy. Nine of 12 initial responders (6 patients with UC and 3 patients with CD) relapsed during follow-up despite oral cyclosporine and underwent elective surgery. One patient with CD relapsed 3 months after discontinuation of oral cyclosporine. Only two patients with CD are in long-term remission. There were no long-term side effects in any of the 13 treated patients. In conclusion, intravenous cyclosporine was effective in inducing remission or significant improvement in 12 of 13 patients with steroid-refractory IBD. However, with subsequent oral cyclosporine the remission could be maintained only for a short while. Each of the six patients with UC needed colectomy and three of the five patients with CD had intestinal resection within 12 months despite oral cyclosporine therapy.

  11. Long term results of radiotherapy of degenerative joint diseases

    Energy Technology Data Exchange (ETDEWEB)

    Lindner, H; Freislederer, R

    1982-04-01

    At the Radiologic Department of the Staedt. Krankenhaus Passau, 473 patients with degenerative diseases in the big joints and the spine were irradiated with the caesium unit between 1971 and 1979. Among these patients, 249 could be followed up during a prolonged period (1/2 to 9 years, i.e. 4.2 years on an average). According to the categories of v. Pannewitz, 11% were pain-free at this moment, 21% showed an essential improvement, 29% showed an improvement, and 39% were not influenced by the treatment. 13.5% showed recurrent pains; these were mentioned as 'not influenced' in the statistical analysis. It is proved that the relief of pain does not depend on the age of the patients, but on the anamnesis period, the results of the X-ray examiantion, and the degree of the restriction of mobility. Due to the delay of irradiation, a preliminary treatment mostly produces a less favorable radiotherapeutic result. Compared with other therapeutic methods, the long term results of radiotherapy of degenerative joint diseases are generally favorable. This conclusion is also confirmed by the results of patients checked up more than five years after the treatment.

  12. Oxidative stress treatment for clinical trials in neurodegenerative diseases.

    Science.gov (United States)

    Ienco, Elena Caldarazzo; LoGerfo, Annalisa; Carlesi, Cecilia; Orsucci, Daniele; Ricci, Giulia; Mancuso, Michelangelo; Siciliano, Gabriele

    2011-01-01

    Oxidative stress is a metabolic condition arising from imbalance between the production of potentially reactive oxygen species and the scavenging activities. Mitochondria are the main providers but also the main scavengers of cell oxidative stress. The role of mitochondrial dysfunction and oxidative stress in the pathogenesis of neurodegenerative diseases is well documented. Therefore, therapeutic approaches targeting mitochondrial dysfunction and oxidative damage hold great promise in neurodegenerative diseases. Despite this evidence, human experience with antioxidant neuroprotectants has generally been negative with regards to the clinical progress of disease, with unclear results in biochemical assays. Here we review the antioxidant approaches performed so far in neurodegenerative diseases and the future challenges in modern medicine.

  13. Long-term efficacy of rasagiline in early Parkinson's disease.

    Science.gov (United States)

    Lew, Mark F; Hauser, Robert A; Hurtig, Howard I; Ondo, William G; Wojcieszek, Joanne; Goren, Tamar; Fitzer-Attas, Cheryl J

    2010-06-01

    This study was designed to follow the long-term efficacy, safety, and tolerability of rasagiline for Parkinson's disease (PD) with data collected from all patients who had ever taken rasagiline during the 12-month TEMPO monotherapy trial (N = 398) and subsequent open-label extension. Patients were followed for up to 6.5 years with a mean of 3.5 +/- 2.1 years. After 12 months, additional PD medications were added as required. Of patients remaining in the trial at 2 years, 46% were maintained on rasagiline monotherapy. The majority of patients received a dopamine agonist prior to levodopa as the first additional dopaminergic agent. Analysis using a Kaplan-Meier method indicated that by 5.4 years only 25% of patients progressed to Hoehn & Yahr stage III. Rasagiline was well tolerated, with 11.3% of patients (45/398) withdrawing because of an adverse event. Rasagiline therapy for PD was effective, well tolerated, and safe in this long-term trial.

  14. Relationship between chronic obstructive pulmonary disease and subclinical coronary artery disease in long-term smokers

    DEFF Research Database (Denmark)

    Rasmussen, Thomas; Køber, Lars; Pedersen, Jesper Holst

    2013-01-01

    Cardiovascular conditions are reported to be the most frequent cause of death in patients with chronic obstructive pulmonary disease (COPD). However, it remains unsettled whether severity of COPD per se is associated with coronary artery disease (CAD) independent of traditional cardiovascular risk...... factors. The aim of this study was to examine the relationship between the presence and severity of COPD and the amount of coronary artery calcium deposit, an indicator of CAD and cardiac risk, in a large population of current and former long-term smokers....

  15. Role of long term antibiotics in chronic respiratory diseases.

    Science.gov (United States)

    Suresh Babu, K; Kastelik, J; Morjaria, J B

    2013-06-01

    Antibiotics are commonly used in the management of respiratory disorders such as cystic fibrosis (CF), non-CF bronchiectasis, asthma and COPD. In those conditions long-term antibiotics can be delivered as nebulised aerosols or administered orally. In CF, nebulised colomycin or tobramycin improve lung function, reduce number of exacerbations and improve quality of life (QoL). Oral antibiotics, such as macrolides, have acquired wide use not only as anti-microbial agents but also due to their anti-inflammatory and pro-kinetic properties. In CF, macrolides such as azithromycin have been shown to improve the lung function and reduce frequency of infective exacerbations. Similarly macrolides have been shown to have some benefits in COPD including reduction in a number of exacerbations. In asthma, macrolides have been reported to improve some subjective parameters, bronchial hyperresponsiveness and airway inflammation; however have no benefits on lung function or overall asthma control. Macrolides have also been used with beneficial effects in less common disorders such as diffuse panbronchiolitis or post-transplant bronchiolitis obliterans syndrome. In this review we describe our current knowledge the use of long-term antibiotics in conditions such as CF, non-CF bronchiectasis, asthma and COPD together with up-to-date clinical and scientific evidence to support our understanding of the use of antibiotics in those conditions. Copyright © 2013 Elsevier Ltd. All rights reserved.

  16. Parkinsonian syndroms: Clinical phenotype, differential diagnosis and disease progression

    International Nuclear Information System (INIS)

    Storch, A.

    2002-01-01

    Parkinsonian syndromes include idiopathic Parkinson's disease (IPD), other neurodegenerative diseases with parkinsonism, the so-called atypical parkinsonian syndromes, and symptomatic parkinsonian syndromes, such as Wilson's disease. IPD is the most frequent disease with parkinsonism as the main clinical feature and is responsible for approx. 80% of all parkinsonian syndromes. Atypical parkinsonian syndromes are the most important differential diagnoses of IPD. The two most frequent types are multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). For clinical diagnosis it is essential to take a careful medical history and to examine the patients physically in regular intervals. However, various clinico-pathological studies have shown that approx. 25% of patients with clinical diagnosis of IPD may have other causes of parkinsonism. Selected technical investigations, in particular functional imaging of the central dopaminergic system using PET or SPECT, may help to make clinical diagnosis more secure. This paper reviews the clinical features and diagnostic findings in diseases with parkinsonism and summarises the difficulties in establishing early and differential diagnoses. (orig.) [de

  17. Pharmacogenetics in Neurodegenerative Diseases: Implications for Clinical Trials.

    Science.gov (United States)

    Tortelli, Rosanna; Seripa, Davide; Panza, Francesco; Solfrizzi, Vincenzo; Logroscino, Giancarlo

    2016-01-01

    Pharmacogenetics has become extremely important over the last 20 years for identifying individuals more likely to be responsive to pharmacological interventions. The role of genetic background as a predictor of drug response is a young and mostly unexplored field in neurodegenerative diseases. Mendelian mutations in neurodegenerative diseases have been used as models for early diagnosis and intervention. On the other hand, genetic polymorphisms or risk factors for late-onset Alzheimer's disease (AD) or other neurodegenerative diseases, probably influencing drug response, are hardly taken into account in randomized clinical trial (RCT) design. The same is true for genetic variants in cytochrome P450 (CYP), the principal enzymes influencing drug metabolism. A better characterization of individual genetic background may optimize clinical trial design and personal drug response. This chapter describes the state of the art about the impact of genetic factors in RCTs on neurodegenerative disease, with AD, frontotemporal dementia, Parkinson's disease, amyotrophic lateral sclerosis, and Huntington's disease as examples. Furthermore, a brief description of the genetic bases of drug response focusing on neurodegenerative diseases will be conducted. The role of pharmacogenetics in RCTs for neurodegenerative diseases is still a young, unexplored, and promising field. Genetic tools allow increased sophistication in patient profiling and treatment optimization. Pharmaceutical companies are aware of the value of collecting genetic data during their RCTs. Pharmacogenetic research is bidirectional with RCTs: efficacy data are correlated with genetic polymorphisms, which in turn define subjects for treatment stratification. © 2016 S. Karger AG, Basel.

  18. Hematologic manifestations of Crohn's disease: two clinical cases

    Directory of Open Access Journals (Sweden)

    O. V. Taratina

    2017-01-01

    Full Text Available Inflammatory bowel diseases (IBD are commonly associated with extraintestinal manifestations, hematological disorders being the most special among them. In some cases, they dominate the clinical picture masking the intestinal manifestations of the underlying disease. Aplastic anemia is an extremely rare extraintestinal IBD manifestation. There are only two clinical cases of aplastic anemia associated with ulcerative colitis and non with Crohn's disease reported in the literature. Combination of Crohn's disease and В₁₂-deficient anemia is more prevalent, but is seen usually only after more than 20 cm of the ileus has been resected. The first clinical case presented in this paper is a  combination of severe fistula-forming Crohn's disease with a constriction in the terminal part of the ileus and profound pancytopenia as an outcome of aplastic anemia. This profound pancytopenia is associated with an extremely high risk of life-threatening complications both of surgical treatment, as well as of several chemotherapeutic agents, which made the management of this patient difficult. The second clinical case demonstrates the manifestation of Crohn's disease as ileocolitis starting from the symptoms of cobalamin deficiency: severe В₁₂-deficient anemia, funicular myelosis and sensory ataxia, with blunted intestinal symptoms. This made the initial diagnosis and timely treatment difficult. Replacement therapy with cobalamin injections and treatment with glucocorticoids and antibacterials led to endoscopically confirmed remission of Crohn's disease and normalization of hematological parameters, with persistent polyneuropathy. Thus, management of patients with Crohn's disease should be multidisciplinary. In the case of anemia, leucopenia and/or thrombocytopenia in IBD patients it is necessary to exclude potential myelodysplasia and bone marrow aplasia. In the event of megaloblastic anemia and/or progressive polyneuropathy one should bear in mind

  19. Refractory coeliac disease in a country with a high prevalence of clinically-diagnosed coeliac disease.

    Science.gov (United States)

    Ilus, T; Kaukinen, K; Virta, L J; Huhtala, H; Mäki, M; Kurppa, K; Heikkinen, M; Heikura, M; Hirsi, E; Jantunen, K; Moilanen, V; Nielsen, C; Puhto, M; Pölkki, H; Vihriälä, I; Collin, P

    2014-02-01

    Refractory coeliac disease (RCD) is thought to be a rare disorder, but the accurate prevalence is unknown. We aimed to identify the prevalence of and the risk factors for developing RCD in a Finnish population where the clinical detection rate of coeliac disease is high. The study involved 11 hospital districts in Finland where the number of treated RCD patients (n = 44), clinically diagnosed coeliac disease patients (n = 12 243) and adult inhabitants (n = 1.7 million) was known. Clinical characteristics at diagnosis of coeliac disease between the RCD patients and patients with uncomplicated disease were compared. The prevalence of RCD was 0.31% among diagnosed coeliac disease patients and 0.002% in the general population. Of the enrolled 44 RCD patients, 68% had type I and 23% type II; in 9% the type was undetermined. Comparing 886 patients with uncomplicated coeliac disease with these 44 patients that developed RCD later in life, the latter were significantly older (median 56 vs 44 years, P coeliac disease. Patients with evolving RCD had more severe symptoms at the diagnosis of coeliac disease, including weight loss in 36% (vs. 16%, P = 0.001) and diarrhoea in 54% (vs. 38%, P = 0.050). Refractory coeliac disease is very rare in the general population. Patients of male gender, older age, severe symptoms or seronegativity at the diagnosis of coeliac disease are at risk of future refractory coeliac disease and should be followed up carefully. © 2014 John Wiley & Sons Ltd.

  20. Review article. Predicting disease onset in clinically healthy people

    Directory of Open Access Journals (Sweden)

    Zeliger . Harold I.

    2016-06-01

    Full Text Available Virtually all human disease is induced by oxidative stress. Oxidative stress, which is caused by toxic environmental exposure, the presence of disease, lifestyle choices, stress, chronic inflammation or combinations of these, is responsible for most disease. Oxidative stress from all sources is additive and it is the total oxidative stress from all sources that induces the onset of most disease. Oxidative stress leads to lipid peroxidation, which in turn produces Malondialdehyde. Serum malondialdehyde level is an additive parameter resulting from all sources of oxidative stress and, therefore, is a reliable indicator of total oxidative stress which can be used to predict the onset of disease in clinically asymptomatic individuals and to suggest the need for treatment that can prevent much human disease.

  1. Variants of cognitive deficiency depending on the clinical characteristics of the disease in patients with paranoid schizophrenia

    Directory of Open Access Journals (Sweden)

    G. G. Lebedeva

    2015-01-01

    Full Text Available Pecific aspects of cognitive impairments in patients with paranoid schizophrenia depending on the clinical characteristics of the disease have been studied. One hundred and thirty patients were examined. A clinico-psychological, experimental psychological and statistical methods were used. Three main types of cognitive deficiency with paranoid schizophrenia, associated with the onset, disease duration, and severity of psychiatric symptomology : 1 long-term course of the disease accompanied by the average level of clinical symptomology associated with abnormal attention and visuospatial functions; 2 late onset of the disease and unexpressed clinical symptomology combined with memory impairments; 3 acute onset and early age combined with the absence of cognitive impairments.

  2. [Advanced Parkinson's disease: clinical characteristics and treatment (part 1)].

    Science.gov (United States)

    Kulisevsky, J; Luquin, M R; Arbelo, J M; Burguera, J A; Carrillo, F; Castro, A; Chacón, J; García-Ruiz, P J; Lezcano, E; Mir, P; Martinez-Castrillo, J C; Martínez-Torres, I; Puente, V; Sesar, A; Valldeoriola-Serra, F; Yañez, R

    2013-10-01

    A large percentage of patients with Parkinson's disease (PD) develop motor fluctuations, dyskinesias, and severe non-motor symptoms within 3 to 5 years of starting dopaminergic therapy, and these motor complications are refractory to treatment. Several authors refer to this stage of the disease as advanced Parkinson's disease. To define the clinical manifestations of advanced PD and the risk factors for reaching this stage of the disease. This consensus document has been prepared by using an exhaustive literature search and by discussion of the contents by an expert group on movement disorders of the Sociedad Española de Neurología (Spanish Neurology Society), coordinated by two of the authors (JK and MRL). Severe motor fluctuations and dyskinesias, axial motor symptoms resistant to levodopa, and cognitive decline are the main signs in the clinical phenotype of advanced PD. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  3. Clinical application of SPECT and PET in cerebrovascular disease

    International Nuclear Information System (INIS)

    Ra, Young Shin

    2003-01-01

    Single photon emission computed tomography(SPECT) and positron emission tomography(PET) are modern imaging techniques that allow for both qualitative are quantitative assessment of hemodynamic changes in cerebrovascular diseases. SPECT has been becoming an indispensable method to investigate regional cerebral blood flow because equipment and isotope are easily available in most general hospitals. Acetazolamide stress SPECT has also been proved to be useful to evaluate the cerebrovascular reserve of occlusive cerebrovascular diseases and to select surgical candidate. PET has gained wide spread clinical use in the evaluation of the hemodynamic and metabolic consequences of extracranial or intracranial arterial obstructive disease despite its complexity and limited availability. PET has been established as an invaluable tool in the pathophysilogy investigation of acute ischemic stroke. The potentials, limitations, and clinical applications of SPECT and PET in various cerebrovascular diseases will be discussed in this article with reviews of literatures

  4. Clinical application of SPECT and PET in cerebrovascular disease

    Energy Technology Data Exchange (ETDEWEB)

    Ra, Young Shin [Ulsan University College of Medicine, Seoul (Korea, Republic of)

    2003-02-01

    Single photon emission computed tomography(SPECT) and positron emission tomography(PET) are modern imaging techniques that allow for both qualitative are quantitative assessment of hemodynamic changes in cerebrovascular diseases. SPECT has been becoming an indispensable method to investigate regional cerebral blood flow because equipment and isotope are easily available in most general hospitals. Acetazolamide stress SPECT has also been proved to be useful to evaluate the cerebrovascular reserve of occlusive cerebrovascular diseases and to select surgical candidate. PET has gained wide spread clinical use in the evaluation of the hemodynamic and metabolic consequences of extracranial or intracranial arterial obstructive disease despite its complexity and limited availability. PET has been established as an invaluable tool in the pathophysilogy investigation of acute ischemic stroke. The potentials, limitations, and clinical applications of SPECT and PET in various cerebrovascular diseases will be discussed in this article with reviews of literatures.

  5. Sacrococcygeal teratoma: Clinical characteristics and long-term ...

    African Journals Online (AJOL)

    Background/Purpose : The excision of sacrococcygeal teratoma (SCT) may be associated with significant long-term morbidity for the child. We reviewed our experience with SCT in a tertiary health care facility in a developing country with particular interest on the long-term sequelae. Methods : Between January 1990 and ...

  6. Whipple's disease. Report of five cases with different clinical features

    OpenAIRE

    FERRARI,Maria de Lourdes de Abreu; VILELA,Eduardo Garcia; FARIA,Luciana Costa; COUTO,Claudia Alves; SALGADO,Célio Jefferson; LEITE,Virgínia Rios; BRASILEIRO FILHO,Geraldo; BAMBIRRA,Eduardo Alves; MENDES,Claudia Maria de Castro; CARVALHO,Silas de Castro; OLIVEIRA,Celso Affonso de; CUNHA,Aloísio Sales da

    2001-01-01

    Whipple's disease (WD) is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female) ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocard...

  7. Clinical Syndromes Associated with Cardiovascular Diseases: A Review

    Directory of Open Access Journals (Sweden)

    Xing Sheng Yang, MD, PhD, FACC, FAHA

    2017-02-01

    Full Text Available In clinical practice, a variety of syndromes are associated with cardiovascular disease and have characteristic findings. Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities, including electrocardiographic conduction defects, arrhythmias, cardiomyopathy, vascular and valvular diseases, cardiac septal defects, and pulmonary problems. There is a growing need for physicians to pay more attention to these syndromes.

  8. Evaluation of medication treatment for Alzheimer's disease on clinical evidence

    Directory of Open Access Journals (Sweden)

    Meng-qiu LI

    2014-03-01

    Full Text Available Objective To formulate the best treatment plan for Alzheimer's disease patients by evaluating the therapeutic efficacy and side effect of various evidence-based programs. Methods Alzheimer's disease, donepezil, rivastigmine, galantamine, memantine, rosiglitazone, etc. were defined as retrieval words. PubMed, Cochrane Library, Wanfang Data and China National Knowledge Infrastructure (CNKI databases were used with applying of manual searching. Systematic reviews, randomized controlled trials (RCT, controlled clinical trials and case-observation studies were collected and evaluated by Jadad Scale. Results After screening, 33 selected resources included 14 systematic reviews, 14 randomized controlled trials, 4 controlled clinical trials and 1 case-observation study. According to Jadad Scale, total 28 articles were evaluated to be high quality (12 with score 4, 10 score 5, 6 score 7, and 5 were low quality with score 3. It was summarized as follows: 1 Alzheimer's disease is a progressive neurodegenerative disease for which no cure exists. To date, only symptomatic treatments with cholinesterase inhibitors (donepezil, rivastigmine, galantamine and an N-methyl-D-aspartate (NMDA receptor noncompetitive antagonist (memantine, are effective and well tolerated to counterbalance the neurotransmitter disturbance, but cannot limit or impact on disease progression. 2 Disease modifying drug is an potential agent, with persistent effect on slowing the progression of structural damage, and can be detected even after withdrawing the treatment. Many types of disease modifying drugs are undergoing clinical trials. Conclusions Using evidence-based medicine methods can provide best clinical evidence on Alzheimer's disease treatment. doi: 10.3969/j.issn.1672-6731.2014.03.009

  9. Pediatric-onset Takayasu's arteritis: clinical features and short-term outcome.

    Science.gov (United States)

    Misra, Durga Prasanna; Aggarwal, Amita; Lawrence, Able; Agarwal, Vikas; Misra, Ramnath

    2015-10-01

    The aim of this was to assess clinical features and outcome in pediatric-onset Takayasu's arteritis (TA). Retrospective data analysis of patients diagnosed with TA over last 13 years with onset before 18 years of age was done. Their presenting features, activity (by NIH criteria, ITAS2010, ITAS-A), disease extent (by DEI.Tak) and angiographic findings were retrieved from clinic files. Treatment received and follow-up data on disease activity and damage by TA damage score (TADS) were also analyzed. Wherever repeated angiography data were available, the same was analyzed. Values are expressed as median with interquartile range in brackets. There were 29 patients (19 females) with median age at diagnosis of 14 (13-16) years and delay to diagnosis of 1 (0.4-2) year. Common presenting symptoms were pulse loss (23/29) and hypertension (22/29). Patients had extensive disease at presentation with median DEI.Tak of 12 (9.5-15); 23/29 had elevated acute-phase reactants, and 28/29 were active at presentation [median ITAS2010 13 (8-15.5), ITAS-A 14 (10-17)]. Numano's type V was the commonest angiographic type (22/29). At a median follow-up of 2.4 (1.5-5.1) years, 2/20 were active whereas all had sustained damage despite a majority (17/20) being on immunosuppression. The median TADS was 8 (6.3-9.8) with pulse loss, claudication and hypertension being the commonest damage item. Two needed renal artery stenting to control hypertension. Angiographic assessment at least 2 years apart demonstrated disease progression in 5 of 6 patients despite immunosuppression. Significant damage accrued on follow-up despite immunosuppression and control of disease activity. Hypertension remains the major long-term morbidity.

  10. Motor outcome measures in Huntington disease clinical trials.

    Science.gov (United States)

    Reilmann, Ralf; Schubert, Robin

    2017-01-01

    Deficits in motor function are a hallmark of Huntington disease (HD). The Unified Huntington's Disease Rating Scale Total Motor Score (UHDRS-TMS) is a categoric clinical rating scale assessing multiple domains of motor disability in HD. The UHDRS-TMS or subsets of its items have served as primary or secondary endpoints in numerous clinical trials. In spite of a well-established video-based annual online certification system, intra- and interrater variability, subjective error, and rater-induced placebo effects remain a concern. In addition, the UHDRS-TMS was designed to primarily assess motor symptoms in manifest HD. Recently, advancement of technology resulted in the introduction of the objective Q-Motor (i.e., Quantitative-Motor) assessments in biomarker studies and clinical trials in HD. Q-Motor measures detected motor signs in blinded cross-sectional and longitudinal analyses of manifest, prodromal, and premanifest HD cohorts up to two decades before clinical diagnosis. In a multicenter clinical trial in HD, Q-Motor measures were more sensitive than the UHDRS-TMS and exhibited no placebo effects. Thus, Q-Motor measures are currently explored in several multicenter trials targeting both symptomatic and disease-modifying mechanisms. They may supplement the UHDRS-TMS, increase the sensitivity and reliability in proof-of-concept studies, and open the door for phenotype assessments in clinical trials in prodromal and premanifest HD. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. MDS clinical diagnostic criteria for Parkinson's disease in China.

    Science.gov (United States)

    Li, Jun; Jin, Miao; Wang, Li; Qin, Bin; Wang, Kang

    2017-03-01

    The Movement Disorder Society Clinical Diagnostic Criteria for Parkinson's disease (MDS-PD Criteria) was introduced by the Movement Disorder Society in 2015 for research purposes. However, its use for clinical diagnosis of Parkinson disease still needs further revision. This study compares the UK-Criteria versus MDS-PD Criteria in the clinical diagnosis of Parkinson disease referred to the China-Japan Friendship Hospital of Beijing, China. To compare the MDS-PD Criteria with the UK-Criteria and discuss the feasibility of the clinical application of MDS-PD Criteria as a general guide to clinical diagnosis of PD in Chinese PD patients. 150 patients of neurology clinic of China-Japan Friendship Hospital of Beijing were recruited in our research. They were divided into three groups: UK-Criteria group, MDS-PD Criteria group and a combined group of UK and MDS-PD Criteria. Clinical history was collected while physical and auxiliary examinations were done by a trained neurologist according to the corresponding criteria. An interrater reliability analysis using the Kappa statistic claimed substantial agreement (κ = 0.626) between the MDS-PD Criteria and the UK-Criteria. The differences between the diagnostic results of these two criteria were statistically significant by paired Chi-square test (p = 0.000). It was found that levodopa-induced dyskinesia had a good positive predictive value, while early bulbar impairment and inspiratory dysfunction presented a negative predictive value. The MDS-PD Criteria emphasize the importance of non-motor symptoms, keeping the motor symptoms as the core for the clinical diagnosis of PD, and establish categories of diagnosis features and levels of certainty which are more complete and organized to be used and replicated by non specialized physicians to evaluated patients with Parkinsonism. The higher sensitivity of MDS-PD Criteria compared with UK-Criteria is worth being widely used in clinical work.

  12. Genetics of liver disease: From pathophysiology to clinical practice.

    Science.gov (United States)

    Karlsen, Tom H; Lammert, Frank; Thompson, Richard J

    2015-04-01

    Paralleling the first 30 years of the Journal of Hepatology we have witnessed huge advances in our understanding of liver disease and physiology. Genetic advances have played no small part in that. Initial studies in the 1970s and 1980s identified the strong major histocompatibility complex associations in autoimmune liver diseases. During the 1990 s, developments in genomic technologies drove the identification of genes responsible for Mendelian liver diseases. Over the last decade, genome-wide association studies have allowed for the dissection of the genetic susceptibility to complex liver disorders, in which also environmental co-factors play important roles. Findings have allowed the identification and elaboration of pathophysiological processes, have indicated the need for reclassification of liver diseases and have already pointed to new disease treatments. In the immediate future genetics will allow further stratification of liver diseases and contribute to personalized medicine. Challenges exist with regard to clinical implementation of rapidly developing technologies and interpretation of the wealth of accumulating genetic data. The historical perspective of genetics in liver diseases illustrates the opportunities for future research and clinical care of our patients. Copyright © 2015 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

  13. Clinical research of bone scan characteristics for metabolic bone diseases

    International Nuclear Information System (INIS)

    Zhu Ruisen; Luo Qiong; Lu Haikui; Chen Libo; Luo Quanyong

    2009-01-01

    Characteristic images of 99m Tc-MDP bone scintigraphy in patients with metabolic bone diseases (MBD) were analyzed and compared, in an attempt to improve the capability of differential diagnosis in this aspect. A total of 142 cases, clinically confirmed as (MBD), were categorized into six groups: hyperparathyroidism (117), renal osteodystrophy (4), Paget's disease (16), hypophosphatemic osteomalacia (2), Albers-Schonberg disease (2), and Brittle bone disease (1). They were diagnosed clinically or pathologically, and scanned with 99m Tc-MDP bone scintegraphy, from which the 142 MBD cases were classified into 4 types. The cases of Type I had increased amount of 99m Tc-MDP uptake in whole body bones, including hyperparathyroidism, Albers-Schonberg disease, brittle bone disease and renal osteodystrophy. The cases of Type II had high uptake of 99m Tc-MDP in local region of bones, including paget's disease, hypophosphatemic osteomalacia and hyperparathyroidism. A Type I case with pathological fracture or secondary osteopathy was classified as Type III. Type IV cases were in early stage of hyperparathyroidism, with normal bone scan image. Analysis of the characteristics of 99m Tc-MDP bone scintigraphic findings (locations, morphology and intensities) in patients with MBD may be helpful in the differential diagnosis of MBD, in association with the patient's history and X-ray data altogether. (authors)

  14. Periodontal disease in pregnant patients with rheumatic valvular disease: clinical and microbiological study.

    Science.gov (United States)

    Avila, Walkiria Samuel; Timerman, Lilia; Romito, Giuseppe Alexandre; Marcelino, Sílvia Linard; Neves, Itamara Lúcia Itagiba; Zugaib, Marcelo; Grinberg, Max

    2011-04-01

    The periodontal disease during pregnancy of women with rheumatic valve disease imply infective endocarditis risks and higher rate of preterm birth and low birth weight. To study the periodontal disease rate of women with rheumatic valve disease during pregnancy. We studied 140 pregnant women who included 70 patients with rheumatic valve disease and 70 healthy women. The periodontal examination included: 1) periodontal clinical exam regard the follow variables: a) probing depth; b) gingival margin; c) clinical attachment level; d) bleeding on probing; e) plaque index and f) gingival index; and 2) microbiological test was performed in samples serum and gingival crevicular fluid and considered positive controls to Porphyromonas gingivalis, Tannerella forsithia e Aggregobacter actinomycetemcomitans. Age and parity were similar between groups; as single or combined the mitral valve disease was prevalent among the rheumatic valve lesion in 45 (32.1%) e 20 (28.5%) cases, respectively. Among the periodontal variables gingival margin (p=0.01) and plaque index (p=0.04) were different between groups. The periodontal disease was identified in 20 (14,3%) pregnant women, seven (10%) of them were patients with valve rheumatic disease and the remain 13 (18,6%) were healthy women, its percentual was not different between groups (p=0,147). Microbiological analyses of oral samples showed higher percentual of P. gingivalis in healthy pregnant women (p=0.004). The clinical and microbiological study during pregnancy showed comparable incidence of periodontal disease between women with rheumatic valve disease and healthy women.

  15. Celiac disease in non-clinical populations of Japan.

    Science.gov (United States)

    Fukunaga, Mai; Ishimura, Norihisa; Fukuyama, Chika; Izumi, Daisuke; Ishikawa, Nahoko; Araki, Asuka; Oka, Akihiko; Mishiro, Tomoko; Ishihara, Shunji; Maruyama, Riruke; Adachi, Kyoichi; Kinoshita, Yoshikazu

    2018-02-01

    Celiac disease is a chronic autoimmune enteropathy caused by gluten ingestion. While its prevalence in Western countries is reported to be as high as 1%, the prevalence has not been evaluated in a large-scale study of a Japanese population. The aim of our study was to clarify the possible presence of celiac disease in a Japanese non-clinical population as well as in patients showing symptoms suggestive of the disease. Serum samples were collected from 2008 non-clinical adults and 47 patients with chronic unexplained abdominal symptoms between April 2014 and June 2016. The anti-tissue transglutaminase (TTG) immunoglobulin A antibody titer was determined as a screening test for celiac disease in all subjects, and individuals with a value of >2 U/mL subsequently underwent testing for the presence of serum endomysial IgA antibody (EMA) as confirmation. Those testing positive for EMA or with a high concentration (>10 U/mL) of TTG were further investigated by histopathological examinations of duodenal mucosal biopsy specimens and HLA typing tests. Of the 2008 non-clinical adults from whom serum samples were collected, 161 tested positive for TTG, and all tested negative for EMA. Four subjects who had a high TTG titer were invited to undergo confirmatory testing, and the histopathological results confirmed the presence of celiac disease in only a single case (0.05%). Of the 47 symptomatic patients, one (2.1%) was found to have a high TTG titer and was diagnosed with celiac disease based on duodenal histopathological findings. The presence of celiac disease in a non-clinical Japanese population was low at 0.05% and was rarely found in patients with unexplained chronic abdominal symptoms.

  16. Can we Predict Disease Course with Clinical Factors?

    Science.gov (United States)

    Vegh, Zsuzsanna; Kurti, Zsuzsanna; Golovics, Petra A; Lakatos, Peter L

    2018-01-01

    The disease phenotype at diagnosis and the disease course of Crohn's disease (CD) and ulcerative colitis (UC) show remarkable heterogeneity across patients. This review aims to summarize the currently available evidence on clinical and some environmental predictive factors, which clinicians should evaluate in the everyday practice together with other laboratory and imaging data to prevent disease progression, enable a more personalized therapy, and avoid negative disease outcomes. In recent population-based epidemiological and referral cohort studies, the evolution of disease phenotype of CD and UC varied significantly. Most CD and severe UC patients still require hospitalization or surgery/colectomy during follow-up. A change in the natural history of inflammatory bowel diseases (IBD) with improved outcomes in parallel with tailored positioning of aggressive immunomodulator and biological therapy has been suspected. According to the currently available literature, it is of major importance to refer IBD cases at risk for adverse disease outcomes as early during the disease course as possible. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  17. NON-COMMUNICABLE DISEASE PROGRAM IN AMPANGAN HEALTH CLINIC

    Directory of Open Access Journals (Sweden)

    MASTURA I

    2010-01-01

    Full Text Available Non-communicable diseases (NCDs represent among the most common and debilitating conditions seen in primary care. Patients’ care will often involves multiple providers and follow-up requires persistence by patients and clinicians alike, therefore ideal outcomes are often difficult to achieve. The need for better disease management policies and practice is growing. This is due to the changing demographic profile of the population, the increasing cost of managing people in acute care hospitals and the availability of new technologies and services. All these changes enable a different care paradigm which is more cost effective and provides people with chronic conditions an improved quality of life. Management of the NCDs therefore offers an excellent opportunity to practice chronic disease management - a systems approach designed to ensure excellent care. The NCD team has developed a comprehensive approach to chronic disease care. We would like to describe the NCD Program in Ampangan Health Clinic which represents many typical government health clinics in Malaysia and the processes by which it was developed. Included are specific examples of the tools and how they can be used by individual clinicians incaring for patients. The integration of Chronic Disease Management Services into health care systems is the direction being undertaken to tackle the burden of chronic disease. Disease management supports the shift in healthcare from an emphasis on managing the acute episode to managing the entire disease course, highlighting both prevention and maintenance of wellbeing for patients with chronic diseases. Disease management promotes better integration and coordination of care across all aspects of the health sector.

  18. Ischemic heart disease after mantlefield irradiation for Hodgkin's disease in long-term follow-up

    International Nuclear Information System (INIS)

    Reinders, J.G.; Heijmen, B.J.M.; Olofsen-van Acht, M.J.J.; Putten, W.L.J. van; Levendag, P.C.

    1999-01-01

    Background and purpose: In patients with Hodgkin's disease treated by radiotherapy with a moderate total dose and a low (mean) fraction dose to the heart, the risk of ischemic heart disease was investigated during long-term follow-up.Materials and methods: The medical records of 258 patients treated in the period 1965-1980 with radiotherapy alone as the primary treatment were reviewed. The median follow-up was 14.2 years (range 0.7-26.2). The mean total dose and fraction dose to the heart were 37.2 Gy (SD 2.9) and 1.64 Gy (SD 0.09), respectively. The impact on the development of ischemic heart disease of treatment-related parameters, such as the applied (fraction) dose, irradiation technique (one or two fields per day), and chemotherapy in case of a relapse, was investigated. The incidence of ischemic heart disease in this patient population was compared with the expected incidence based on gender, age and calendar period-specific data for the Dutch population.Results: Thirty-one patients (12%) experienced ischemic heart disease (actuarial risk at 20-25 years: 21.2% (95% C.I. 15-30). Twenty-five of them were hospitalized. When compared with the expected incidence, the relative risk (RR) of hospital admission for ischemic heart disease was 2.7 (95% C.I. 1.7-4.0). There were 12 deaths (4.7%) due to ischemic myocardial or sudden death (actuarial risk at 25 years: 10.2% (95% C.I. 5.3-19), compared to 2.3 cases that were expected to have died from these causes, yielding a standardized mortality ratio (SMR) of 5.3 (95% C.I. 2.7-9.3). Gender (male), pretreatment cardiac medical history and increasing age appeared to be the only significant factors for the development of ischemic heart disease.Conclusions: Despite the moderate total dose and the low (mean) fraction dose to the heart, the observed incidence of ischemic heart disease is high, especially after long follow-up periods. Treatment related cardiac disease in patients treated for Hodgkin's disease has only been

  19. Quantitation of autoantibodies in systemic autoimmune diseases : clinically useful?

    NARCIS (Netherlands)

    Kallenberg, C. G. M.; Stegeman, C. A.; Bootsma, H.; Biji, M.; Limburg, P. C.

    2006-01-01

    Serial assessment of levels of autoantibodies has been proposed as being clinically useful in certain systemic autoimmune diseases. In particular, attention has been given to anti-dsDNA antibodies in systemic lupus erythematosus (SLE) and ANCA in the ANCA-associated vasculitides (AAV). Much

  20. DNA-abzymes in autoimmune diseases in clinic and experiment

    Directory of Open Access Journals (Sweden)

    T E Naumova

    2003-01-01

    Full Text Available DNA-abzymes enzymes in autoimmune diseases in clinic and experiment T.E. Naumova, O.M. Durova, A.G. Gabibov, Z.S. Alekberova, S. V. Suchkov DNA-hydrolyzing autoantibodies (AAB or DNA-abzymes can be found in autoimmune diseases in clinic and experiment. Technology of serum express screening for presence of DNA abzymes is described. Comparative study of DNA-hydrolising activity in patients with different forms of systemic and organ-specific autoimmune diseases was performed. Blood of clinically healthy donors was usually free of IgG DNA-abzymes. DNA-abzymes were most often revealed in patients with systemic lupus erythematosus (SLE and rheumatoid arthritis (RA less often in patients with organ-specific forms of autoimmune disturbances. The results of the study confirm the hypothesis of autoimmune origin of IgG DNA abzymes and demonstrate the possibility to use them in clinical practice for monitoring to disease activity in SLE and RA.

  1. Clinical surgical and pathological characterization of nodular thyroid disease

    International Nuclear Information System (INIS)

    Gonzalez Mendoza, Dayanis Ceila; Rodriguez Valdes, Adriana; Bejerano Garcia, Ramiro Julio

    2012-01-01

    Nodular thyroid disease is a worrisome endocrine problem due to its association with cancer. To characterize patients hospitalized with this condition according to clinical surgical and pathological aspects, as well as to determine the effectiveness of the cytology by fine-needle aspiration biopsy for diagnosis

  2. Childhood Pompe disease: clinical spectrum and genotype in 31 patients

    NARCIS (Netherlands)

    Capelle, C.I. van; Meijden, J.C. van der; Hout, J.M. van den; Jaeken, J.; Baethmann, M.; Voit, T.; Kroos, M.A.; Derks, T.G.; Rubio-Gozalbo, M.E.; Willemsen, M.A.A.P.; Lachmann, R.H.; Mengel, E.; Michelakakis, H.; Jongste, J.C. de; Reuser, A.J.; Ploeg, A.T. van der

    2016-01-01

    BACKGROUND: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotterdam, the

  3. Childhood Pompe disease: Clinical spectrum and genotype in 31 patients

    NARCIS (Netherlands)

    C.I. van Capelle (Carine); J.C. van der Meijden (Chris); J.M.P. van den Hout (Johanna); J. Jaeken; M. Baethmann; T. Voit; M.A. Kroos (Marian); T.G.J. Derks (Terry G J); M.E. Rubio-Gozalbo (Estela); M.A. Willemsen (Michél); R. Lachmann (Robin); E. Mengel; H. Michelakakis (Helen); J.C. de Jongste (Johan); A.J.J. Reuser (Arnold); A.T. van der Ploeg (Ans)

    2016-01-01

    textabstractBackground: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in

  4. Childhood Pompe disease : clinical spectrum and genotype in 31 patients

    NARCIS (Netherlands)

    van Capelle, C I; van der Meijden, J C; van den Hout, J M P; Jaeken, J; Baethmann, M; Voit, T; Kroos, M A; Derks, T G J; Rubio-Gozalbo, M E; Willemsen, M A; Lachmann, R H; Mengel, E; Michelakakis, H; de Jongste, J C; Reuser, A J J; van der Ploeg, A T

    2016-01-01

    Background: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotterdam, the

  5. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were...

  6. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were...

  7. Variability in the clinical expression of Parkinson's disease

    NARCIS (Netherlands)

    Wolters, E.C.

    2008-01-01

    Parkinsonism is a clinical syndrome characterized by bradykinesia, hypo-/akinesia, muscular rigidity, and resting tremor, mainly caused by Parkinson's disease (PD). Symptoms of PD are due to a progressive loss of nigral neurons causing striatal dopaminergic denervation. However, nigral degeneration

  8. The clinical use of structural MRI in Alzheimer disease

    NARCIS (Netherlands)

    Frisoni, G.B.; Fox, N.C.; Jack, C.R.; Scheltens, P.; Thompson, P.M.

    2010-01-01

    Structural imaging based on magnetic resonance is an integral part of the clinical assessment of patients with suspected Alzheimer dementia. Prospective data on the natural history of change in structural markers from preclinical to overt stages of Alzheimer disease are radically changing how the

  9. Sickle cell disease clinical phenotypes in children from South ...

    African Journals Online (AJOL)

    2014-07-20

    Jul 20, 2014 ... Background:The clinical phenotypes of children with sickle cell disease (SCD) are poorly described in many sub-Saharan countries ..... World Health Organization. ... apps.who.int/gb/ebwha/pdf_files/WHA59/A59_9‑en.pdf.

  10. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    I. Zerr; K. Kallenberg; D.M. Summers; C. Romero; A. Taratuto; U. Heinemann; M. Breithaupt; D. Varges; B. Meissner; A. Ladogana (Anna); M. Schuur (Maaike); S. Haik; S.J. Collins (Steven); G.H. Jansen (Gerard); G.B. Stokin; J. Pimentel; E. Hewer; D. Collie; P. Smith; H. Roberts; J.P. Brandel; P. Tikka-Kleemola (Päivi); M. Pocchiari (Maurizio); C. Begue; P. Cras (Patrick); R.G. Will; P. Sanchez-Juan (Pascual)

    2009-01-01

    textabstractSeveral molecular subtypes of sporadic Creutzfeldt-Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications

  11. Correlation of clinical data, anatomical site and disease stage in ...

    African Journals Online (AJOL)

    Objective: To evaluate the colorectal cancer clinical data with respect to the anatomical location and stage of disease. Design: Retrospective observational study. Setting: Kenyatta National Hospital (KNH), Nairobi, Kenya. Subjects: Two hundred and fifty three tumours were categorised as right colonic (RCC), left colonic ...

  12. Hotspots in clinical management of severe liver diseases

    Directory of Open Access Journals (Sweden)

    LYU Jiayu

    2017-09-01

    Full Text Available Severe liver diseases such as liver failure and acute decompensated cirrhosis have critical conditions and high mortality rates, and the prognosis of such patients is closely associated with early warning, timely dynamic assessment, and comprehensive and effective therapy. The patients require a series of effective clinical management measures for elimination of causative factors, organ support, and prevention and treatment of complications. Medical treatment-artificial liver-liver transplantation is an important modality for severe liver diseases. Granulocyte colony-stimulating factor, stem cell therapy, and bioartificial liver have a promising future, while there are still controversies over non-selective β-blocker. This article reviews the hotspots in the clinical management of severe liver diseases.

  13. Autoinflammatory diseases in adults. Clinical characteristics and prognostic implications.

    Science.gov (United States)

    González García, A; Patier de la Peña, J L; Ortego Centeno, N

    2017-03-01

    Autoinflammatory diseases are clinical conditions with inflammatory manifestations that present in a periodic or persistent manner and are caused by acquired or hereditary disorders of the innate immune response. In general, these diseases are more common in childhood, but cases have been reported in adults and are therefore important for all specialists. There are few references on these diseases in adults due to their low prevalence and underdiagnosis. The aim of this study is to review the scientific literature on these disorders to systematise their clinical, prognostic and treatment response characteristics in adults. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  14. Clinical presentation of late haemorrhagic disease of newborn

    International Nuclear Information System (INIS)

    Majeed, R.; Memon, Y.; Majeed, F.

    2008-01-01

    To observe the clinical presentation of late haemorrhagic disease of the newborn (LHDNB), and clinical improvement after the administration of vitamin K/sub 1/. This is a prospective descriptive study. All the children older than seven days who presented with bleeding were admitted in pediatrics ward of Isra University Hyderabad from April 2006 to April 2007 were included. Data collection was done by means of detailed proforma. Analysis was done on SPSS version 11. Thirty five cases were included. Commonest site of bleeding was subcutaneous followed by oral and injection site. Mean age of late haemorrhagic disease of newborn was 109 days and minimum age of presentation was 28 days. Common clinical presentations were irritability, convulsions, poor reflexes and poor feeding. Mostly recovery was within 24 hours after vit K. Late HDN results in severe hemorrhage especially hemorrhage in the central nervous system. Administration of Vitamin K (1mg, 1M) at birth can present these severe complications. (author)

  15. Cranial Paget's disease - clinical case of symptomatic secondary basilar impression

    International Nuclear Information System (INIS)

    Gagov, E.; Gabrovsky, N.; Gabrovsky, S.

    2010-01-01

    A clinical case of 52 years old woman with history of periodic headaches for many years. The headache became more intensive and constant during the last 4-6 months. Instability by walking and stagger occurred as well as weakness in all 4 extremities, difficult swallowing and speech changes. Bulbar, quadripyramidal and archicerebellar symptoms were in hand. Pagets disease was ascertained engaging the skull with secondary basilar impression and compression of the cerebellum and the brain-stem leading to the above described clinical signs. Decompressive median suboccipital craniectomy was performed with laminectomy of C1. Occipital squama was thickened and highly vascularized.. Secondary basilar impression could occur in cranial Pagets disease with clinical symptoms resulting from the compression of the cerebellum and the brain-stem

  16. Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.

    Science.gov (United States)

    Shimizu, Reiko; Ogata, Katsuhisa; Tamaura, Akemi; Kimura, En; Ohata, Maki; Takeshita, Eri; Nakamura, Harumasa; Takeda, Shin'ichi; Komaki, Hirofumi

    2016-07-11

    Duchenne muscular dystrophy (DMD) is the most commonly inherited neuromuscular disease. Therapeutic agents for the treatment of rare disease, namely "orphan drugs", have recently drawn the attention of researchers and pharmaceutical companies. To ensure the successful conduction of clinical trials to evaluate novel treatments for patients with rare diseases, an appropriate infrastructure is needed. One of the effective solutions for the lack of infrastructure is to establish a network of rare diseases. To accomplish the conduction of clinical trials in Japan, the Muscular dystrophy clinical trial network (MDCTN) was established by the clinical research group for muscular dystrophy, including the National Center of Neurology and Psychiatry, as well as national and university hospitals, all which have a long-standing history of research cooperation. Thirty-one medical institutions (17 national hospital organizations, 10 university hospitals, 1 national center, 2 public hospitals, and 1 private hospital) belong to this network and collaborate to facilitate clinical trials. The Care and Treatment Site Registry (CTSR) calculates and reports the proportion of patients with neuromuscular diseases in the cooperating sites. In total, there are 5,589 patients with neuromuscular diseases in Japan and the proportion of patients with each disease is as follows: DMD, 29 %; myotonic dystrophy type 1, 23 %; limb girdle muscular dystrophy, 11 %; Becker muscular dystrophy, 10 %. We work jointly to share updated health care information and standardized evaluations of clinical outcomes as well. The collaboration with the patient registry (CTSR), allows the MDCTN to recruit DMD participants with specific mutations and conditions, in a remarkably short period of time. Counting with a network that operates at a national level is important to address the corresponding national issues. Thus, our network will be able to contribute with international research activity, which can lead to

  17. Sacrococcygeal teratoma: Clinical characteristics and long-term ...

    African Journals Online (AJOL)

    2009-10-05

    Oct 5, 2009 ... chemotherapy, while two were well at 12 and 24 months after surgical excision and chemotherapy. Even though our patients with malignant disease were few, it would appear that they do well after chemotherapy and excision as noted by Wakhlu et al.[8]. A number of reports have attempted to assess long-.

  18. Integrating Transgenic Vector Manipulation with Clinical Interventions to Manage Vector-Borne Diseases.

    Directory of Open Access Journals (Sweden)

    Kenichi W Okamoto

    2016-03-01

    Full Text Available Many vector-borne diseases lack effective vaccines and medications, and the limitations of traditional vector control have inspired novel approaches based on using genetic engineering to manipulate vector populations and thereby reduce transmission. Yet both the short- and long-term epidemiological effects of these transgenic strategies are highly uncertain. If neither vaccines, medications, nor transgenic strategies can by themselves suffice for managing vector-borne diseases, integrating these approaches becomes key. Here we develop a framework to evaluate how clinical interventions (i.e., vaccination and medication can be integrated with transgenic vector manipulation strategies to prevent disease invasion and reduce disease incidence. We show that the ability of clinical interventions to accelerate disease suppression can depend on the nature of the transgenic manipulation deployed (e.g., whether vector population reduction or replacement is attempted. We find that making a specific, individual strategy highly effective may not be necessary for attaining public-health objectives, provided suitable combinations can be adopted. However, we show how combining only partially effective antimicrobial drugs or vaccination with transgenic vector manipulations that merely temporarily lower vector competence can amplify disease resurgence following transient suppression. Thus, transgenic vector manipulation that cannot be sustained can have adverse consequences-consequences which ineffective clinical interventions can at best only mitigate, and at worst temporarily exacerbate. This result, which arises from differences between the time scale on which the interventions affect disease dynamics and the time scale of host population dynamics, highlights the importance of accounting for the potential delay in the effects of deploying public health strategies on long-term disease incidence. We find that for systems at the disease-endemic equilibrium, even

  19. Study on clinical symptoms in canine cardiac diseases

    Directory of Open Access Journals (Sweden)

    F. Karlette Anne

    Full Text Available Cardiac diseases in canines are an extensively studied phenomenon all over the world but meagre information has been reported in India. Certain problems, including historical, physical, and laboratory abnormalities, are associated with cardiovascular or pulmonary disease. In India however, the recognition of canine cardiac diseases has been delayed, and ignored on account of lack of awareness and knowledge by the owner and inadequate diagnostic facility to a field veterinarian. Considering the above facts, the present study was undertaken in Gujarat to survey the prevalence of common cardiac diseases in hospital population of dogs along with the clinical symptoms which often goes undetected due to lack of proper diagnostic techniques to be implied and the most forms of heart disease may be present for many years before any evidence of failure develops. In the present study most of the clinical cases of cardiac diseases were presented with a history of nocturnal coughing (seven cases; 2.55%, exercise intolerance (five cases; 1.82%, partial or complete anorexia (five cases; 1.82%, swelling in abdominal area (four cases; 1.45%, dullness and depression (two cases; 0.72%, cachexia and hepatojugular pulsation (one case each; 0.36% each at times. [Vet World 2009; 2(8.000: 307-309

  20. Comparing patients with spinal cord infarction and cerebral infarction: clinical characteristics, and short-term outcome

    Directory of Open Access Journals (Sweden)

    Naess H

    2011-08-01

    Full Text Available Halvor Naess, Fredrik RomiDepartment of Neurology, Haukeland University Hospital, N-5021 Bergen, NorwayBackground: To compare the clinical characteristics, and short-term outcome of spinal cord infarction and cerebral infarction.Methods: Risk factors, concomitant diseases, neurological deficits on admission, and short-term outcome were registered among 28 patients with spinal cord infarction and 1075 patients with cerebral infarction admitted to the Department of Neurology, Haukeland University Hospital, Bergen, Norway. Multivariate analyses were performed with location of stroke (cord or brain, neurological deficits on admission, and short-term outcome (both Barthel Index [BI] 1 week after symptom onset and discharge home or to other institution as dependent variables.Results: Multivariate analysis showed that patients with spinal cord infarction were younger, more often female, and less afflicted by hypertension and cardiac disease than patients with cerebral infarction. Functional score (BI was lower among patients with spinal cord infarctions 1 week after onset of symptoms (P < 0.001. Odds ratio for being discharged home was 5.5 for patients with spinal cord infarction compared to cerebral infarction after adjusting for BI scored 1 week after onset (P = 0.019.Conclusion: Patients with spinal cord infarction have a risk factor profile that differs significantly from that of patients with cerebral infarction, although there are some parallels to cerebral infarction caused by atherosclerosis. Patients with spinal cord infarction were more likely to be discharged home when adjusting for early functional level on multivariate analysis.Keywords: spinal cord infarction, cerebral infarction, risk factors, short-term outcome

  1. The Clinical Value of Intensive Monitoring in Term Asphyxiated Newborns

    NARCIS (Netherlands)

    R.M.C. Swarte (Renate)

    2010-01-01

    textabstractPerinatal asphyxia is an important cause of brain injury. It may lead to hypoxic-ischaemic encephalopathy (HIE) which occurs in one to six of every 1000 full term births. The risk of death or severe handicap is 0.5-2.0 out of 1000. Following intrapartum asphyxia cerebral

  2. IMPULSIVE-COMPULSIVE DISORDERS IN PARKINSON'S DISEASE. CLINICAL CASES

    Directory of Open Access Journals (Sweden)

    N. V. Fedorova

    2015-01-01

    Full Text Available Objective – a description of clinical cases of impulsive­compulsive disorders in Parkinson,s disease. The first clinical case. Patient N., 75 years old, suffering for 15 years from Parkinson,s disease, akinetic­rigid form of the disease, stage 4 by Hyun–Yar. Since 2009, he received levodopa/carbidopa 250/25 mg 5 times/day (daily dose of 1250 mg of levodopa; pramipexole 3.5 mg per day (daily dose 3.5 mg, amantadine sulfate 100 mg 5 times/day (daily dose 500 mg. While taking antiparkinsonian drugs the patient developed behavioral disorders such as dopamine disregulatory syndrome combined with punding, hypersexuality and compulsive shopping accompanied by visual hallucinations. The total equivalent dose of levodopa was 1600 mg per day. The second clinical case. Patient R., 52 years old, suffers from Parkinson,s disease about 5 years, a mixed form. She complained of slowness of movement, tremor in her left hand, sleep disturbances, poor mood. The clinic was appointed piribedil 50 mg 3 times per day. Despite the fact that the patient took only one of dopaminergic drugs in a therapeutic daily dose, she developed impulsive­compulsive disorder as hyper­ sexuality, compulsive shopping and binge eating. Results. In the first clinical case for correction of behavioral disorders in patients with Parkinson,s disease levodopa/carbidopa dose was reduced to 750 mg per day (3/4 Tab. 4 times a day; added to levodopa/benserazide dispersible 100 mg morning and levodopa/benserazide 100 mg before sleep (total dose of levodopa of 950 mg per day. Amantadine sulfate and pramipexole were canceled. It was added to the therapy of atypical neuroleptic clozapine dose 6,25 mg overnight. After 3 months marked improvement, regressed visual hallucina­ tions, improved family relationships, background mood became more stable. The patient continue to sing karaoke, but this hobby has be­ come less intrusive. In the second clinical event correction impulsive

  3. Clinical Prediction Models for Cardiovascular Disease: Tufts Predictive Analytics and Comparative Effectiveness Clinical Prediction Model Database.

    Science.gov (United States)

    Wessler, Benjamin S; Lai Yh, Lana; Kramer, Whitney; Cangelosi, Michael; Raman, Gowri; Lutz, Jennifer S; Kent, David M

    2015-07-01

    Clinical prediction models (CPMs) estimate the probability of clinical outcomes and hold the potential to improve decision making and individualize care. For patients with cardiovascular disease, there are numerous CPMs available although the extent of this literature is not well described. We conducted a systematic review for articles containing CPMs for cardiovascular disease published between January 1990 and May 2012. Cardiovascular disease includes coronary heart disease, heart failure, arrhythmias, stroke, venous thromboembolism, and peripheral vascular disease. We created a novel database and characterized CPMs based on the stage of development, population under study, performance, covariates, and predicted outcomes. There are 796 models included in this database. The number of CPMs published each year is increasing steadily over time. Seven hundred seventeen (90%) are de novo CPMs, 21 (3%) are CPM recalibrations, and 58 (7%) are CPM adaptations. This database contains CPMs for 31 index conditions, including 215 CPMs for patients with coronary artery disease, 168 CPMs for population samples, and 79 models for patients with heart failure. There are 77 distinct index/outcome pairings. Of the de novo models in this database, 450 (63%) report a c-statistic and 259 (36%) report some information on calibration. There is an abundance of CPMs available for a wide assortment of cardiovascular disease conditions, with substantial redundancy in the literature. The comparative performance of these models, the consistency of effects and risk estimates across models and the actual and potential clinical impact of this body of literature is poorly understood. © 2015 American Heart Association, Inc.

  4. Characterization of clinical-imaging characteristics of the binswanger's disease

    International Nuclear Information System (INIS)

    Rodriguez Mutuberria, Livan; Serra Valdes, Yusimi

    2002-01-01

    A review was made to go deep into the understanding of vascular dementias that behave as the second cause of dementia in practice. Binswanger's disease is one of the most important among them. Its detection has progressively increased with the continual improvement of the radiological diagnostic tools that allow to identify the ischemic damage of the hemispherical cerebral white matter and the presence of lacunar infarctions. It is a disease of chronic course and inexorably progressive that is characterized by the association of subcortical cognitive dysfunction, evidence of cerebrovascular disease, Parkinsonian rigidity and vesicle dysfunction with a characteristic imaging picture. The clinical picture and the main imaging characteristics are explained in this paper and the pathogens of the disease is briefly described

  5. Wilson's disease: cranial MRI observations and clinical correlation

    International Nuclear Information System (INIS)

    Sinha, S.; Taly, A.B.; Prashanth, L.K.; Venugopal, K.S.; Arunodaya, G.R.; Swamy, H.S.; Ravishankar, S.; Vasudev, M.K.

    2006-01-01

    Study of MRI changes may be useful in diagnosis, prognosis and better understanding of the pathophysiology of Wilson's disease (WD). We aimed to describe and correlate the MRI abnormalities of the brain with clinical features in WD. MRI evaluation was carried out in 100 patients (57 males, 43 females; mean age 19.3±8.9 years) using standard protocols. All but 18 patients were on de-coppering agents. Their history, clinical manifestations and scores for severity of disease were noted. The mean duration of illness and treatment were 8.3±10.8 years and 7.5±7.1 years respectively. MRI of the brain was abnormal in all the 93 symptomatic patients. The most conspicuous observations were atrophy of the cerebrum (70%), brainstem (66%) and cerebellum (52%). Signal abnormalities were also noted: putamen (72%), caudate (61%), thalami (58%), midbrain (49%), pons (20%), cerebral white matter (25%), cortex (9%), medulla (12%) and cerebellum (10%). The characteristic T2-W globus pallidal hypointensity (34%), ''Face of giant panda'' sign (12%), T1-W striatal hyperintensity (6%), central pontine myelinosis (7%), and bright claustral sign (4%) were also detected. MRI changes correlated with disease severity scores (P<0.001) but did not correlate with the duration of illness. MRI changes were universal but diverse and involved almost all the structures of the brain in symptomatic patients. A fair correlation between MRI observations and various clinical features provides an explanation for the protean manifestations of the disease. (orig.)

  6. Parthenium dermatitis severity score to assess clinical severity of disease

    Directory of Open Access Journals (Sweden)

    Kaushal K Verma

    2017-01-01

    Full Text Available Background: Parthenium dermatitis is the most common type of airborne contact dermatitis in India. It is a chronic disease of a remitting and relapsing course with significant morbidity and distress, but there is no scoring system to assess its severity. Aim: To design a scoring system for the assessment of clinical severity of disease in Parthenium dermatitis and to use this scoring system in various studies to determine its sensitivity, specificity, and reproducibility. Methods and Results: In our first few studies on Parthenium dermatitis, we designed and used a basic clinical severity scoring system based on itching, morphology of the lesions, and areas involved. However, in subsequent studies, we modified it to the present scoring system as Parthenium dermatitis severity score (PDSS. Our studies showed the high sensitivity of PDSS in characterization of the disease severity at the given point of time, as well as to determine the efficacy of a prescribed treatment modality which was reliable and reproducible. Conclusion: Thus, PDSS may be used by clinicians for appropriate scoring of the clinical severity of Parthenium dermatitis and in monitoring the disease response to therapy.

  7. Oxidative stress markers in hypertensive states of pregnancy: preterm and term disease.

    Directory of Open Access Journals (Sweden)

    Lesia Olha Kurlak

    2014-08-01

    Full Text Available Discussion continues as to whether de novo hypertension in pregnancy with significant proteinuria (pre-eclampsia; PE and non-proteinuric new hypertension (gestational hypertension; GH are parts of the same disease spectrum or represent different conditions. Non-pregnant hypertension, pregnancy and PE are all associated with oxidative stress. We have established a 6 weeks post-partum clinic for women who experienced a hypertensive pregnancy. We hypothesized that PE and GH could be distinguished by markers of oxidative stress; thiobarbituric acid reactive substances (TBARS and antioxidants (ferric ion reducing ability of plasma; FRAP. Since the severity of PE and GH is greater pre-term, we also compared pre-term and term disease. Fifty-eight women had term PE, 23 pre-term PE, 60 had term GH and 6 pre-term GH, 11 pre-existing (essential hypertension (EH without PE. Limited data were available from normotensive pregnancies (n=7 and non-pregnant controls (n=14. There were no differences in postpartum TBARS or FRAP between hypertensive states; TBARS (P=0.001 and FRAP (P=0.009 were lower in plasma of non-pregnant controls compared to recently-pregnant women. Interestingly FRAP was higher in preterm than term GH (P=0.013. In PE and GH, TBARS correlated with low density lipoprotein (LDL-cholesterol (P=0.036; this association strengthened with inclusion of EH ((P=0.011. The 10 year Framingham index for cardiovascular risk was positively associated with TBARS (P=0.003.Oxidative stress profiles do not differ between hypertensive states but appear to distinguish between recently-pregnant and non-pregnant states. This suggests that pregnancy may alter vascular integrity with changes remaining 6 weeks postpartum. LDL-cholesterol is a known determinant of oxidative stress in cardiovascular disease and we have shown this association to be present in hypertensive pregnancy further emphasizing that such a pregnancy may be revealing a pre-existing cardiovascular

  8. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

    Science.gov (United States)

    Kallenberg, K.; Summers, D. M.; Romero, C.; Taratuto, A.; Heinemann, U.; Breithaupt, M.; Varges, D.; Meissner, B.; Ladogana, A.; Schuur, M.; Haik, S.; Collins, S. J.; Jansen, Gerard H.; Stokin, G. B.; Pimentel, J.; Hewer, E.; Collie, D.; Smith, P.; Roberts, H.; Brandel, J. P.; van Duijn, C.; Pocchiari, M.; Begue, C.; Cras, P.; Will, R. G.; Sanchez-Juan, P.

    2009-01-01

    Several molecular subtypes of sporadic Creutzfeldt–Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications have demonstrated a potentially important role for magnetic resonance imaging in the pre-mortem diagnosis of sporadic Creutzfeldt–Jakob disease. Magnetic resonance imaging signal alterations correlate with distinct sporadic Creutzfeldt–Jakob disease molecular subtypes and thus might contribute to the earlier identification of the whole spectrum of sporadic Creutzfeldt–Jakob disease cases. This multi-centre international study aimed to provide a rationale for the amendment of the clinical diagnostic criteria for sporadic Creutzfeldt–Jakob disease. Patients with sporadic Creutzfeldt–Jakob disease and fluid attenuated inversion recovery or diffusion-weight imaging were recruited from 12 countries. Patients referred as ‘suspected sporadic Creutzfeldt–Jakob disease’ but with an alternative diagnosis after thorough follow up, were analysed as controls. All magnetic resonance imaging scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus and cerebellum. Magnetic resonance imaging scans were evaluated in 436 sporadic Creutzfeldt–Jakob disease patients and 141 controls. The pattern of high signal intensity with the best sensitivity and specificity in the differential diagnosis of sporadic Creutzfeldt–Jakob disease was identified. The optimum diagnostic accuracy in the differential diagnosis of rapid progressive dementia was obtained when either at least two cortical regions (temporal, parietal or occipital) or both caudate nucleus and putamen displayed a high signal in fluid attenuated inversion recovery or diffusion-weight imaging magnetic resonance imaging. Based on our analyses, magnetic

  9. α-Synuclein oligomers and clinical implications for Parkinson disease

    Science.gov (United States)

    Kalia, Lorraine V.; Kalia, Suneil K.; McLean, Pamela J.; Lozano, Andres M.; Lang, Anthony E.

    2012-01-01

    Protein aggregation within the central nervous system has been recognized as a defining feature of neurodegenerative diseases since the early 20th century. Since that time, there has been a growing list of neurodegenerative disorders, including Parkinson disease, which are characterized by inclusions of specific pathogenic proteins. This has led to the long-held dogma that these characteristic protein inclusions, which are composed of large insoluble fibrillar protein aggregates and visible by light microscopy, are responsible for cell death in these diseases. However, the correlation between protein inclusion formation and cytotoxicity is inconsistent suggesting another form of the pathogenic proteins may be contributing to neurodegeneration. There is emerging evidence implicating soluble oligomers, smaller protein aggregates not detectable by conventional microscopy, as potential culprits in the pathogenesis of neurodegenerative diseases. The protein α-synuclein is well recognized to contribute to the pathogenesis of Parkinson disease and is the major component of Lewy bodies and Lewy neurites. However, α-synuclein also forms oligomeric species with certain conformations being toxic to cells. The mechanisms by which these α-synuclein oligomers cause cell death are being actively investigated as they may provide new strategies for diagnosis and treatment of Parkinson disease and related disorders. Here we review the possible role of α-synuclein oligomers in cell death in Parkinson disease and discuss the potential clinical implications. PMID:23225525

  10. Measures of rheumatoid arthritis disease activity in Australian clinical practice.

    Science.gov (United States)

    Taylor, Andrew; Bagga, Hanish

    2011-01-01

    Objectives. To investigate which rheumatoid arthritis (RA) disease activity measures are being collected in patients receiving glucocorticoids, non-biologic or biologic disease-modifying antirheumatic drugs (DMARDs) in Australian rheumatology practice. Methods. A retrospective audit of medical records was conducted from eight rheumatology practices around Australia. Each rheumatologist recruited 30 consecutive eligible patients into the review, 10 of whom must have been receiving a biological agent for rheumatoid arthritis. Disease activity measures and radiographic assessments were collected from each patient's last consultation. For biologic patients, disease activity measures were also collected from when the patient was first initiated on the biological agent. Results. At last consultation, the disease measures that were recorded most often were ESR (89.2%), haemoglobin (87.5%), and CRP (84.2%). DAS28 was infrequently recorded (16.3%). The rate of recording disease activity measures for patients receiving biologic DMARDs decreased over time (mean 27 months). Conclusion. This review has shown inconsistency of RA activity measures being recorded in Australian rheumatology clinical practice. An accurate assessment of the disease process is necessary to effectively target rheumatoid arthritis patients to treat in order to achieve optimal outcomes.

  11. Clinical-histopathological correlation in a case of Coats' disease

    Directory of Open Access Journals (Sweden)

    Zajdenweber Moyses E

    2006-08-01

    Full Text Available Abstract Background Coats' disease is a non-hereditary ocular disease, with no systemic manifestation, first described by Coats in 1908. It occurs more commonly in children and has a clear male predominance. Most patients present clinically with unilateral decreased vision, strabismus or leukocoria. The most important differential diagnosis is unilateral retinoblastoma, which occurs in the same age group and has some overlapping clinical manifestations. Case presentation A 4 year-old girl presented with a blind and painful right eye. Ocular examination revealed neovascular glaucoma, cataract and posterior synechiae. Although viewing of the fundus was impossible, computed tomography disclosed total exsudative retinal detachment in the affected eye. The eye was enucleated and subsequent histopathological evaluation confirmed the diagnosis of Coats' disease. Conclusion General pathologists usually do not have the opportunity to receive and study specimens from patients with Coats' disease. Coats' disease is one of the most important differential diagnoses of retinoblastoma. Therefore, It is crucial for the pathologist to be familiar with the histopathological features of the former, and distinguish it from the latter.

  12. The influence of smoking on clinical periodontal disease

    Directory of Open Access Journals (Sweden)

    Ina Hendiani

    2009-07-01

    Full Text Available Periodontal disease has very complex and multi factor etiology. Plaque bacteria is the main cause of periodontal disease and another risk factor that also plays a role is a smoking habit. Cigarette product such as nicotine can influence the development of periodontal disease that can directly and systemically damage the function of PMN cell. The research was conducted by taking a clinical examination on the smoking influence that covers the number of cigarettes and the period of smoking, and kind of cigarette to the worse of periodontal disease, and by measuring the epithelial attachment loss and the bleeding index. The research was conducted to 152 male aged 20-45 years old, comprised 80 smokers and 72 nonsmokers at the Clinic of Faculty of Dentistry Universitas Indonesia, Jakarta. The result of the research showed that smoking gave influence on the worse of the periodontal disease. There was a profound relationship between the smoking period and the number of cigarettes consumed everyday indicated by the epithelial attachment loss. Smoking did not enhance gingival bleeding. The relationship between kinds of cigarette and the gingival bleeding score and the epithelial attachment loss did not show a significant bleeding.

  13. Kikuchi-Fujimoto disease: Clinical and laboratory characteristics and outcome

    Directory of Open Access Journals (Sweden)

    P S Rakesh

    2014-01-01

    Full Text Available Introduction: Kikuchi-Fujimoto disease is an uncommon disorder with worldwide distribution, characterized by fever and benign enlargement of the lymph nodes, primarily affecting young adults. Awareness about this disorder may help prevent misdiagnosis and inappropriate investigations and treatment. The objective of the study was to evaluate the clinical and laboratory characteristics of histopathologically confirmed cases of Kikuchi′s disease from a tertiary care center in southern India. Materials and Methods: Retrospective analysis of all adult patients with histopathologically confirmed Kikuchi′s disease from January 2007 to December 2011 in a 2700-bed teaching hospital in South India was done. The clinical and laboratory characteristics and outcome were analyzed. Results: There were 22 histopathologically confirmed cases of Kikuchi′s disease over the 5-year period of this study. The mean age of the subjects′ was 29.7 years (SD 8.11 and majority were women (Male: female- 1:3.4. Apart from enlarged cervical lymph nodes, prolonged fever was the most common presenting complaint (77.3%. The major laboratory features included anemia (54.5%, increased erythrocyte sedimentation rate (31.8%, elevated alanine aminotransferase (27.2% and elevated lactate dehydrogenase (LDH (31.8%. Conclusion: Even though rare, Kikuchi′s disease should be considered in the differential diagnosis of young individuals, especially women, presenting with lymphadenopathy and prolonged fever. Establishing the diagnosis histopathologically is essential to avoid inappropriate investigations and therapy.

  14. Uncontrolled chronic disease: patient non-compliance or clinical mismanagement?

    Science.gov (United States)

    Javors, Jonathan R; Bramble, Judith E

    2003-01-01

    A study group of 30 individuals was randomly chosen from 1,379 beneficiaries predicted to be at risk for health care complications at a large, Midwest, industrial company currently experiencing increased health care costs. All 30 individuals had one or more chronic illness, primarily diabetes, cardiovascular disease, or asthma. Through analysis of medical records, a self-reporting health risk assessment survey, and personal contact with both patients and clinicians, each study individual was assessed as to whether his disease(s) was under control, the individual was compliant with his treatment protocol, and whether the supervising clinician was following nationally accepted standards of care. Fewer than 50% of the individuals in the study group had their chronic illness(es) under control. Those individuals whose treatment adhered to national guidelines were significantly more likely to have their disease under control (p Behavioral (external) barriers were most often cited as the reason a clinical practitioner did not follow the appropriate national standard of care. Most clinicians were aware of and familiar with the guidelines; a few either did not agree with or misunderstood the guidelines. The results of this study suggest that changing clinical practice behaviors to better ensure compliance to national standards of care may make a substantial difference in chronic disease control.

  15. [Clinical and morphological variants of diverticular disease in colon].

    Science.gov (United States)

    Levchenko, S V; Lazebnik, L B; Potapova, V B; Rogozina, V A

    2013-01-01

    Our own results of two-stage research are presented in the article. The first stage contains the retrospective analysis of 3682 X-ray examining of large bowel which were conducted in 2002-2004 to define the structure of colon disease and to determine gender differences. The second stage is prospective research which took place from 2003 to 2012 and 486 patients with diverticular disease were regularly observed. Following parameters were estimated: dynamics of complaints, life quality, clinical symptoms. Multiple X-ray and endoscopic examining were done with estimation of quantity and size of diverticula, changes of colon mucosa, comparison of X-ray and endoscopic methods in prognosis of complications. Two basic clinical morphological variants of diverticular disease (DD) of colon are made out as a result of our research. There are IBD-like and DD with ischemic component. The variants differ by pain characteristics, presence of accompanying diseases, life quality parameters and description of colon mucosa morphological research. We suppose that different ethiopathogenetic factors of development of both variants mentioned above influence the disease prognosis and selection of treatment.

  16. Semantic Memory in the Clinical Progression of Alzheimer Disease.

    Science.gov (United States)

    Tchakoute, Christophe T; Sainani, Kristin L; Henderson, Victor W

    2017-09-01

    Semantic memory measures may be useful in tracking and predicting progression of Alzheimer disease. We investigated relationships among semantic memory tasks and their 1-year predictive value in women with Alzheimer disease. We conducted secondary analyses of a randomized clinical trial of raloxifene in 42 women with late-onset mild-to-moderate Alzheimer disease. We assessed semantic memory with tests of oral confrontation naming, category fluency, semantic recognition and semantic naming, and semantic density in written narrative discourse. We measured global cognition (Alzheimer Disease Assessment Scale, cognitive subscale), dementia severity (Clinical Dementia Rating sum of boxes), and daily function (Activities of Daily Living Inventory) at baseline and 1 year. At baseline and 1 year, most semantic memory scores correlated highly or moderately with each other and with global cognition, dementia severity, and daily function. Semantic memory task performance at 1 year had worsened one-third to one-half standard deviation. Factor analysis of baseline test scores distinguished processes in semantic and lexical retrieval (semantic recognition, semantic naming, confrontation naming) from processes in lexical search (semantic density, category fluency). The semantic-lexical retrieval factor predicted global cognition at 1 year. Considered separately, baseline confrontation naming and category fluency predicted dementia severity, while semantic recognition and a composite of semantic recognition and semantic naming predicted global cognition. No individual semantic memory test predicted daily function. Semantic-lexical retrieval and lexical search may represent distinct aspects of semantic memory. Semantic memory processes are sensitive to cognitive decline and dementia severity in Alzheimer disease.

  17. Imaging of cystic fibrosis lung disease and clinical interpretation

    Energy Technology Data Exchange (ETDEWEB)

    Wielpuetz, M.O.; Eichinger, M.; Kauczor, H.U. [Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology; Translational Lung Research Center Heidelberg (TLRC) (Germany); Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology with Nuclear Medicine; Biederer, J. [Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology; Translational Lung Research Center Heidelberg (TLRC) (Germany); Gross-Gerau Community Hospital (Germany). Radiologie Darmstadt; Wege, S. [Heidelberg University Hospital (Germany). Dept. of Pulmonology and Respiratory Medicine; Stahl, M.; Sommerburg, O. [Translational Lung Research Center Heidelberg (TLRC) (Germany); Heidelberg University Hospital (Germany). Div. of Pediatric Pulmonology and Allergy and Cystic Fibrosis Center; Mall, M.A. [Translational Lung Research Center Heidelberg (TLRC) (Germany); Heidelberg University Hospital (Germany). Div. of Pediatric Pulmonology and Allergy and Cystic Fibrosis Center; Heidelberg University Hospital (Germany). Dept. of Translational Pulmonology; Puderbach, M. [Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology; Translational Lung Research Center Heidelberg (TLRC) (Germany); Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology with Nuclear Medicine; Hufeland Hospital, Bad Langensalza (Germany). Dept. of Diagnostic and Interventional Radiology

    2016-09-15

    Progressive lung disease in cystic fibrosis (CF) is the life-limiting factor of this autosomal recessive genetic disorder. Increasing implementation of CF newborn screening allows for a diagnosis even in pre-symptomatic stages. Improvements in therapy have led to a significant improvement in survival, the majority now being of adult age. Imaging provides detailed information on the regional distribution of CF lung disease, hence longitudinal imaging is recommended for disease monitoring in the clinical routine. Chest X-ray (CXR), computed tomography (CT) and magnetic resonance imaging (MRI) are now available as routine modalities, each with individual strengths and drawbacks, which need to be considered when choosing the optimal modality adapted to the clinical situation of the patient. CT stands out with the highest morphological detail and has often been a substitute for CXR for regular severity monitoring at specialized centers. Multidetector CT data can be post-processed with dedicated software for a detailed measurement of airway dimensions and bronchiectasis and potentially a more objective and precise grading of disease severity. However, changing to CT was inseparably accompanied by an increase in radiation exposure of CF patients, a young population with high sensitivity to ionizing radiation and lifetime accumulation of dose. MRI as a cross-sectional imaging modality free of ionizing radiation can depict morphological hallmarks of CF lung disease at lower spatial resolution but excels with comprehensive functional lung imaging, with time-resolved perfusion imaging currently being most valuable.

  18. No publication bias in industry funded clinical trials of degenerative diseases of the spine.

    Science.gov (United States)

    Son, Colin; Tavakoli, Samon; Bartanusz, Viktor

    2016-03-01

    Industry sponsorship of clinical research of degenerative diseases of the spine has been associated with excessive positive published results as compared to research carried out without industry funding. We sought the rates of publication of clinical trials of degenerative diseases of the spine based on funding source as a possible explanation for this phenomenon. We reviewed all clinical trials registered at clinicaltrials.gov relating to degenerative diseases of the spine as categorized under six medical subject heading terms (spinal stenosis, spondylolisthesis, spondylolysis, spondylosis, failed back surgery syndrome, intervertebral disc degeneration) and with statuses of completed or terminated. These collected studies were categorized as having, or not having, industry funding. Published results for these studies were then sought within the clinicaltrials.gov database itself, PubMed and Google Scholar. One hundred sixty-one clinical trials met these criteria. One hundred nineteen of these trials had industry funding and 42 did not. Of those with industry funding, 45 (37.8%) had identifiable results. Of those without industry funding, 17 (40.5%) had identifiable results. There was no difference in the rates of publication of results from clinical trials of degenerative diseases of the spine no matter the funding source. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Long-term follow-up on Cushing disease patient after transsphenoidal surgery

    Directory of Open Access Journals (Sweden)

    Insook Jeong

    2014-09-01

    Full Text Available Cushing disease is caused by excessive adrenocorticotropic hormone (ACTH production by the pituitary adenoma. Transsphenoidal surgery is its first-line treatment. The incidence of Cushing disease in children and adolescents is so rare that long-term prognoses have yet to be made in most cases. We followed-up on a 16-year-old male Cushing disease patient who presented with rapid weight gain and growth retardation. The laboratory findings showed increased 24-hour urine free cortisol and lack of overnight cortisol suppression by low-dose dexamethasone test. The serum cortisol and 24-hour urine free cortisol, by high-dose dexamethasone test, also showed a lack of suppression, and a bilateral inferior petrosal sinus sampling suggested lateralization of ACTH secretion from the right-side pituitary gland. However, after a right hemihypophysectomy by the transsphenoidal approach, the 24-hour urine free cortisol levels were persistently high. Thus the patient underwent a total hypophysectomy, since which time he has been treated with hydrocortisone, levothyroxine, recombinant human growth hormone, and testosterone enanthate. Intravenous bisphosphonate for osteoporosis had been administered for three years. At his current age of 26 years, his final height had attained the target level range; his bone mineral density was normal, and his pubic hair was Tanner stage 4. This report describes the long-term treatment course of a Cushing disease patient according to growth profile, pubertal status, and responses to hormone replacement therapy. The clinical results serve to emphasize the importance of growth optimization, puberty, and bone health in the treatment management of Cushing disease patients who have undergone transsphenoidal surgery.

  20. Long-term follow-up on Cushing disease patient after transsphenoidal surgery.

    Science.gov (United States)

    Jeong, Insook; Oh, Moonyeon; Kim, Ja Hye; Cho, Ja Hyang; Choi, Jin-Ho; Yoo, Han-Wook

    2014-09-01

    Cushing disease is caused by excessive adrenocorticotropic hormone (ACTH) production by the pituitary adenoma. Transsphenoidal surgery is its first-line treatment. The incidence of Cushing disease in children and adolescents is so rare that long-term prognoses have yet to be made in most cases. We followed-up on a 16-year-old male Cushing disease patient who presented with rapid weight gain and growth retardation. The laboratory findings showed increased 24-hour urine free cortisol and lack of overnight cortisol suppression by low-dose dexamethasone test. The serum cortisol and 24-hour urine free cortisol, by high-dose dexamethasone test, also showed a lack of suppression, and a bilateral inferior petrosal sinus sampling suggested lateralization of ACTH secretion from the right-side pituitary gland. However, after a right hemihypophysectomy by the transsphenoidal approach, the 24-hour urine free cortisol levels were persistently high. Thus the patient underwent a total hypophysectomy, since which time he has been treated with hydrocortisone, levothyroxine, recombinant human growth hormone, and testosterone enanthate. Intravenous bisphosphonate for osteoporosis had been administered for three years. At his current age of 26 years, his final height had attained the target level range; his bone mineral density was normal, and his pubic hair was Tanner stage 4. This report describes the long-term treatment course of a Cushing disease patient according to growth profile, pubertal status, and responses to hormone replacement therapy. The clinical results serve to emphasize the importance of growth optimization, puberty, and bone health in the treatment management of Cushing disease patients who have undergone transsphenoidal surgery.

  1. Fractional Brownian motion and long term clinical trial recruitment.

    Science.gov (United States)

    Zhang, Qiang; Lai, Dejian

    2011-05-01

    Prediction of recruitment in clinical trials has been a challenging task. Many methods have been studied, including models based on Poisson process and its large sample approximation by Brownian motion (BM), however, when the independent incremental structure is violated for BM model, we could use fractional Brownian motion to model and approximate the underlying Poisson processes with random rates. In this paper, fractional Brownian motion (FBM) is considered for such conditions and compared to BM model with illustrated examples from different trials and simulations.

  2. Short term outcome of posterior dynamic stabilization system in degenerative lumbar diseases.

    Science.gov (United States)

    Yang, Mingyuan; Li, Chao; Chen, Ziqiang; Bai, Yushu; Li, Ming

    2014-11-01

    Decompression and fusion is considered as the 'gold standard' for the treatment of degenerative lumbar diseases, however, many disadvantages have been reported in several studies, recently like donor site pain, pseudoarthrosis, nonunion, screw loosening, instrumentation failure, infection, adjacent segment disease (ASDis) and degeneration. Dynamic neutralization system (Dynesys) avoids many of these disadvantages. This system is made up of pedicle screws, polyethylene terephthalate cords, and polycarbonate urethane spacers to stabilize the functional spinal unit and preserve the adjacent motion after surgeries. This was a retrospective cohort study to compare the effect of Dynesys for treating degenerative lumbar diseases with posterior lumbar interbody fusion (PLIF) based on short term followup. Seventy five consecutive patients of lumbar degenerative disease operated between October 2010 and November 2012 were studied with a minimum followup of 2 years. Patients were divided into two groups according to the different surgeries. 30 patients underwent decompression and implantation of Dynesys in two levels (n = 29) or three levels (n = 1) and 45 patients underwent PLIF in two levels (n = 39) or three levels (n = 6). Clinical and radiographic outcomes between two groups were reviewed. Thirty patients (male:17, female:13) with a mean age of 55.96 ± 7.68 years were included in Dynesys group and the PLIF group included 45 patients (male:21, female:24) with a mean age of 54.69 ± 3.26 years. The average followup in Dynesys group and PLIF group was 2.22 ± 0.43 year (range 2-3.5 year) and 2.17 ± 0.76 year (range 2-3 year), respectively. Dynesys group showed a shorter operation time (141.06 ± 11.36 min vs. 176.98 ± 6.72 min, P degenerative disease showed clinical benefits with motion preservation of the operated segments, but does not have the significant advantage on motion preservation at adjacent segments, to avoid the degeneration of adjacent intervertebral disk.

  3. Clinical management of pain and fatigue in Parkinson's disease.

    Science.gov (United States)

    Del Sorbo, Francesca; Albanese, Alberto

    2012-01-01

    Pain and fatigue are part of the phenomenological spectrum of Parkinson's disease (PD). These non-motor symptoms can be as troublesome as motor symptoms, impact activities of daily living, and are often underdiagnosed. The recognition of pain and fatigue requires a high degree of clinical suspicion and is facilitated by the use of specific questionnaires and ancillary tests. This workup is highly valuable particularly considering that pain and fatigue in PD may be treatable. We review here the clinical manifestations and management of these non-motor symptoms. Their resolution can be challenging, as there is insufficient evidence concerning effective treatment options. Copyright © 2011 Elsevier Ltd. All rights reserved.

  4. Subtle cognitive impairments in patients with long-term cure of Cushing's disease

    NARCIS (Netherlands)

    Tiemensma, Jitske; Kokshoorn, Nieke E.; Biermasz, Nienke R.; Keijser, Bart-Jan S. A.; Wassenaar, Moniek J. E.; Middelkoop, Huub A. M.; Pereira, Alberto M.; Romijn, Johannes A.

    2010-01-01

    Active Cushing's disease is associated with cognitive impairments. We hypothesized that previous hypercortisolism in patients with Cushing's disease results in irreversible impairments in cognitive functioning. Therefore, our aim was to assess cognitive functioning after long-term cure of Cushing's

  5. Clinical observation of cerebrovascular diseases current in Chernobyl accident liquidators

    International Nuclear Information System (INIS)

    Golovchenko, Yu.Yi.; Usatenko, O.G.; Romanenko, N.Yi.

    1999-01-01

    The results of the clinical follow up study (1993-1997) of cerebrovascular diseases development in the Chernobyl accident liquidators are presented. The syndrome of autonomous nervous system dysfunction following to an exposure to the Chernobyl accident consequences factors promotes to fast development of atherosclerosis and arterial hypertension. On the base of an analysis of the data obtained it was established that the primary diencephalic structures damage resulted in severe changes of different metabolic system, particularly in the cerebrovascular disorders development

  6. Clinical Holistic Medicine: Chronic Infections and Autoimmune Diseases

    OpenAIRE

    Ventegodt, Søren; Merrick, Joav

    2005-01-01

    The consciousness-based (holistic) medical toolbox might be useful in general practice and in cases of recurrent infections and chronic infection or inflammation. From our clinical experiences, there is hope for improvement from a number of diseases caused by disorders affecting the regulation of the immune system when the physician includes the holistic medical approach.Our scientific understanding of the connection between consciousness and cellular order is still limited. Consciousness-bas...

  7. Encopresis: long-term clinical outcome of 67 cases.

    Science.gov (United States)

    Unal, Fatih; Pehlivantürk, Berna

    2005-01-01

    In this study we attempted to investigate the outcome of encopresis and to determine factors affecting prognosis. The sample consisted of 52 boys (77.6%) and 15 girls (22.4%) diagnosed as encopresis according to DSM IV diagnostic criteria. These patients were evaluated six years after their initial examination in the Department of Child Psychiatry. Clinical and demographical data were compared between initial and follow-up interviews and between patients with complete recovery and others. Fifty-six patients (83.6%) recovered completely and 11 (16.4%) continued to be encopretic after six years. Good school performance (pEncopresis is a chronic disorder and complete recovery rates tend to increase with time. Families and primary health care providers should be informed about the treatment possibilities of encopresis for early intervention.

  8. Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).

    OpenAIRE

    Wolff, G; Mayerová, A; Wienker, T F; Atalianis, P; Ioannou, P; Warburg, M

    1992-01-01

    We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agre...

  9. Management of celiac disease: from evidence to clinical practice

    Directory of Open Access Journals (Sweden)

    Tiziana M. Attardo

    2017-11-01

    Full Text Available Celiac disease (CD is a complex polygenic disorder, which involves genetic factors human leukocyte complex (HLA and non-HLA genes, environmental factors, innate and adoptive immunity, and a robust chronic T-mediated autoimmune component. The main goal of the present monograph is to define a methodological approach for the disease, characterized by frequent late diagnosis, in order for the physician to become aware of the disease management, the diversity of the clinical presentation itself and in different patients. A unique attention is payed to the specific diagnostic tests to define a correct and accurate application of them, and in addition, to disease follow-up and possible complications. Moreover, a dedicated space is assigned to refractory CD, to potential CD and non-celiac gluten sensitivity. Legislative aspects of the celiac disease in Italy are addressed, too. The celiac disease guidelines and their evaluation by means of Appraisal of Guidelines, Research and Evaluation II instrument allow us to classify the different recommendations and to apply them according to the stakeholders’ involvement, pertinence, methodological accuracy, clarity and publishing independence. Finally, the most current scientific evidence is taken into account to create a complete updated monograph.

  10. Long-term use of adalimumab in the treatment of rheumatic diseases

    Directory of Open Access Journals (Sweden)

    Charalampos Papagoras

    2009-05-01

    Full Text Available Charalampos Papagoras, Paraskevi V Voulgari, Alexandros A DrososRheumatology Clinic, Department of Internal Medicine, Medical School, University of Ioannina, Ioannina, GreeceAbstract: Adalimumab, a fully humanized monoclonal antibody against tumor necrosis factor-alpha (TNFα, has been evaluated in various randomized placebo-controlled trials in rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis and juvenile idiopathic arthritis. In the short time frame of these trials adalimumab has been shown to be effective in reducing disease activity, slowing radiographic disease progression and improving patients’ quality of life, while at the same time demonstrating an acceptable safety profile. Furthermore, release of adalimumab on the market, prospective observational studies, as well as open-label extensions of the original double-blind trials have provided experience and data about the long-term efficacy and safety of the drug. Initial effectiveness, in terms of reducing disease activity, is sustained, while in most cases patients treated with adalimumab experienced a slower radiographic progression and consequently less disability and improved health-related quality-of-life outcomes. Moreover, long-standing treatment of thousands of patients with adalimumab outside the controlled context of clinical trials was not related to new safety signals, with the most common adverse events being respiratory infections. The most common serious adverse events seem to be tuberculosis reactivation, while a putative association with malignant lymphoma development is not yet proven. Besides, both of these adverse reactions pertain to the whole TNFα blocker group. In conclusion, adalimumab is a safe and effective option for the treatment of patients with rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis and juvenile idiopathic arthritis. Keywords: adalimumab, tumor necrosis factor-alpha, rheumatoid arthritis, ankylosing spondylitis

  11. Norrie disease: extraocular clinical manifestations in 56 patients.

    Science.gov (United States)

    Smith, Sharon E; Mullen, Thomas E; Graham, Dionne; Sims, Katherine B; Rehm, Heidi L

    2012-08-01

    Norrie disease (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive sensorineural hearing loss and cognitive impairment. The ocular phenotype has been well described, while the extraocular manifestations of the disorder are not well understood. We present the data from the Norrie Disease Registry, which consists of 56 patients with detailed clinical histories and genotype data. This study represents the largest, detailed investigation into the phenotypic spectrum of ND to date and more importantly expands knowledge of the extraocular clinical manifestations. We identify several novel aspects of the syndrome that will improve the management of these patients. In particular, we expand our understanding of the neurologic manifestations in ND and identify a chronic seizure disorder in approximately 10% of all patients. In addition, details of the hearing phenotype are described including the median age of onset (12 years of age) and how genotype affects onset. Moreover, we find vascular disease to be a significant component of ND; and vascular health should be, in the future, a component of patient clinical care. In summary, the results expand our understanding of the phenotypic variability and genotypic heterogeneity in ND patients. Copyright © 2012 Wiley Periodicals, Inc.

  12. Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

    Directory of Open Access Journals (Sweden)

    Maria Victoria Fernández

    2017-11-01

    Full Text Available Alzheimer disease (AD, Frontotemporal lobar degeneration (FTD, Amyotrophic lateral sclerosis (ALS and Parkinson disease (PD have a certain degree of clinical, pathological and molecular overlap. Previous studies indicate that causative mutations in AD and FTD/ALS genes can be found in clinical familial AD. We examined the presence of causative and low frequency coding variants in the AD, FTD, ALS and PD Mendelian genes, in over 450 families with clinical history of AD and over 11,710 sporadic cases and cognitive normal participants from North America. Known pathogenic mutations were found in 1.05% of the sporadic cases, in 0.69% of the cognitively normal participants and in 4.22% of the families. A trend towards enrichment, albeit non-significant, was observed for most AD, FTD and PD genes. Only PSEN1 and PINK1 showed consistent association with AD cases when we used ExAC as the control population. These results suggest that current study designs may contain heterogeneity and contamination of the control population, and that current statistical methods for the discovery of novel genes with real pathogenic variants in complex late onset diseases may be inadequate or underpowered to identify genes carrying pathogenic mutations.

  13. The prevalence and clinical characteristics of punding in Parkinson's disease.

    Science.gov (United States)

    Spencer, Ashley H; Rickards, Hugh; Fasano, Alfonso; Cavanna, Andrea E

    2011-03-01

    Punding (the display of stereotyped, repetitive behaviors) is a relatively recently discovered feature of Parkinson's disease (PD). Little is known about the prevalence and clinical characteristics of punding in PD. In this review, four large scientific databases were comprehensively searched for literature in relation to punding prevalence and clinical correlates in the context of PD. Prevalence was found to vary greatly (between 0.34 to 14%), although there were large disparities in study populations, assessment methods, and criteria. We observed an association between punding, dopaminergic medications, and impulse control disorder. Other characteristics, which may be more common among punders, include a higher severity of dyskinesia, younger age of disease onset, longer disease duration, and male gender. More research in large clinical datasets is required in many areas before conclusions are drawn. The pathophysiology behind the punding phenomenon is also poorly understood at present, rendering it difficult to develop targeted therapy. The current mainstay of treatment is the reduction in the dose of dopaminergic medications, the evidence for other suggested therapies being purely empirical.

  14. Long-term outcomes of internal carotid artery disease treated using radial artery graft

    International Nuclear Information System (INIS)

    Murai, Yasuo; Teramoto, Akira; Mizunari, Takayuki; Kobayashi, Shiro; Umeoka, Katsuya; Tateyama, Kojiro

    2009-01-01

    Complex internal carotid artery disease presents a surgical challenge because limitations and difficulty are encountered with either clipping or endovascular treatment. Our review of previous reports suggests that no current vascular assessment can accurately predict occurrence of ischemic complications after internal carotid artery ligation. The present study concerns long-term clinical outcome of radial artery grafting followed by parent artery trapping or proximal occlusion for management of these difficult lesions. Between September 1997 and October 2007, we performed radial artery grafting followed immediately by parent artery occlusion in 20 sides of 19 patients with complex internal carotid arteries disease with follow-up for more than 36 months (5 men, 14 women; mean follow-up duration, 62 months). All patients underwent postoperative MRI and MR angiography (MRA) every year to assess graft patency, ischemic complications, and de novo aneurysm. Another 20 carotid aneurysms with visual disturbance were assessed concerning outcome. Among 13 patients with cranial nerve (III and VI) disturbances, all dysfunctions were improved in cases treated within 8 months of onset to operation. On the other hand, patients with second cranial nerve disturbances were not improved in cases treated after 4 months of onset. No long-term complications were discovered with MRI and MRA. With appropriate attention to surgical technique, radial artery grafting followed by acute parent artery occlusion is a safe treatment for complex internal carotid artery aneurysms. Long-term safety is satisfactory, with no delayed complications such as graft stenosis, ischemic complications or de novo aneurysm formations in follow-up periods of more than 3 years. Good clinical outcome of cranial nerve palsy was achieved in patients treated within 8 months of onset for cranial nerve (CN) III and VI, and 4 of CN II palsy. (author)

  15. Rethinking dry eye disease: a perspective on clinical implications.

    Science.gov (United States)

    Bron, Anthony J; Tomlinson, Alan; Foulks, Gary N; Pepose, Jay S; Baudouin, Christophe; Geerling, Gerd; Nichols, Kelly K; Lemp, Michael A

    2014-04-01

    Publication of the DEWS report in 2007 established the state of the science of dry eye disease (DED). Since that time, new evidence suggests that a rethinking of traditional concepts of dry eye disease is in order. Specifically, new evidence on the epidemiology of the disease, as well as strategies for diagnosis, have changed the understanding of DED, which is a heterogeneous disease associated with considerable variability in presentation. These advances, along with implications for clinical care, are summarized herein. The most widely used signs of DED are poorly correlated with each other and with symptoms. While symptoms are thought to be characteristic of DED, recent studies have shown that less than 60% of subjects with other objective evidence of DED are symptomatic. Thus the use of symptoms alone in diagnosis will likely result in missing a significant percentage of DED patients, particularly with early/mild disease. This could have considerable impact in patients undergoing cataract or refractive surgery as patients with DED have less than optimal visual results. The most widely used objective signs for diagnosing DED all show greater variability between eyes and in the same eye over time compared with normal subjects. This variability is thought to be a manifestation of tear film instability which results in rapid breakup of the tearfilm between blinks and is an identifier of patients with DED. This feature emphasizes the bilateral nature of the disease in most subjects not suffering from unilateral lid or other unilateral destabilizing surface disorders. Instability of the composition of the tears also occurs in dry eye disease and shows the same variance between eyes. Finally, elevated tear osmolarity has been reported to be a global marker (present in both subtypes of the disease- aqueous-deficient dry eye and evaporative dry eye). Clinically, osmolarity has been shown to be the best single metric for diagnosis of DED and is directly related to

  16. Clinical association: Lyme disease and Guillain-Barre syndrome.

    Science.gov (United States)

    Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

    2017-10-01

    Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Update on the clinical management of Wilson's disease

    Directory of Open Access Journals (Sweden)

    Hedera P

    2017-01-01

    Full Text Available Peter Hedera Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA Abstract: Wilson’s disease (WD, albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis. WD is a monogenic disorder but has very high allelic heterogeneity with >500 disease-causing mutations identified, and new insights into phenotype–genotype correlations are also reviewed. The gold standard of therapy is chelation of excessive copper, but many unmet needs exist because of possible clinical deterioration in treated patients and potential adverse effects associated with currently available chelating medications. We also review the most promising novel therapeutic approaches, including chelators targeting specific cell types, cell transplantation and gene therapy. Keywords: Wilson’s disease, copper, ATP7B, chelation, gene therapy

  18. Chronic Liver Diseases in Children: Clinical Profile and Histology.

    Science.gov (United States)

    Dhole, Sachin Devidas; Kher, Archana S; Ghildiyal, Radha G; Tambse, Manjusha P

    2015-07-01

    The main aim of the study is to study the clinical profile of disorders of the liver and hepatobiliary system in paediatric patients and to correlate the histopathology findings of liver biopsy in chronic liver disease. Another aim being to assess the prognosis and to know the outcome and the effects of treatment in chronic liver diseases in paediatric age group. It was a prospective study, included the clinical profile of Chronic Liver Diseases (CLD) in children and the histopathological correlation. A total of 55 children were thoroughly investigated by doing relevant investigations and liver biopsy. A male predominance (60%) was noted with maximum incidence in the age group of 6-12 years. The incidence of CLD was 1.1% of total admissions. The most common presenting complaint was jaundice and abdominal distension. Hepatic encephalopathy was noted in 29% patients. Hepatomegaly was seen in 63% patients and spleenomegaly was seen in 60% patients. The incidence of cirrhosis on liver biopsy was 42% (23cases) in CLD patients. The most common diagnosis on histopathology was Wilson's disease (22%), followed by hepatitis and autoimmune hepatitis. The predominant spectrum of CLD was metabolic liver disease and also the predominant cause of death. As the incidence of CLD is quite low, a very high index of suspicion is required for its diagnosis. Some uncommon causes of CLD in children were seen in our study like neutral lipid storage disease, α1-Antitrypsin deficiency disease, lupus hepatitis, Alagille syndrome and Budd-Chiari syndrome. A patient of CLD with jaundice and hepatomegaly should be treated aggressively as those are the poor prognostic indicators of the disease. Hepatic encephalopathy and cirrhosis are also associated with poor outcome in patients with CLD. Liver biopsy histopathology by an expert and its correlation with laboratory investigations plays an important role in the diagnosis of CLD. The major cause of deaths in patients with CLD is due to end stage

  19. Alzheimer biomarkers and clinical Alzheimer disease were not associated with increased cerebrovascular disease in a memory clinic population.

    Science.gov (United States)

    Spies, Petra E; Verbeek, Marcel M; Sjogren, Magnus J C; de Leeuw, Frank-Erik; Claassen, Jurgen A H R

    2014-01-01

    Preclinical and post-mortem studies suggest that Alzheimer disease (AD) causes cerebrovascular dysfunction, and therefore may enhance susceptibility to cerebrovascular disease (CVD). The objective of this study was to investigate this association in a memory clinic population. The AD biomarkers CSF amyloid β42, amyloid β40 and APOE-ε4 status have all been linked to increased CVD risk in AD, and therefore the first aim of this study was to analyze the association between these biomarkers and CVD. In 92 memory clinic patients the cross-sectional association between AD biomarkersand the severity of CVD was investigated with linear regression analysis. Additionally, we studied whether AD biomarkers modified the relation between vascular risk factors and CVD. CVD was assessed on MRI through a visual rating scale.Analyses were adjusted for age. The second aim of this study was to investigate the association between clinical AD and CVD, where 'clinical AD' was defined as follows: impairment in episodic memory, hippocampal atrophy and an aberrant concentration of cerebrospinal fluid (CSF) biomarkers. 47 of the 92 patients had AD. No association between CSF amyloid β42, amyloid β40 or APOE-ε4 status and CVD severity was found, nor did these AD biomarkers modify the relation between vascular risk factors and CVD. Clinical AD was not associated with CVD severity (p=0.83). Patients with more vascular risk factors had more CVD, but this relationship was not convincingly modified by AD (p=0.06). In this memory clinic population, CVD in patients with AD was related to vascular risk factors and age, comparable to patients without AD. Therefore, in our study, the preclinical and post-mortem evidence that AD would predispose to CVD could not be translated clinically. Further work, including replication of this work in a different and larger sample, is warranted.

  20. Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases.

    Science.gov (United States)

    Tarín, Juan J; García-Pérez, Miguel A; Hamatani, Toshio; Cano, Antonio

    2015-04-15

    The present review aims to ascertain whether different infertility etiologies share particular genes and/or molecular pathways with other pathologies and are associated with distinct and particular risks of later-life morbidity and mortality. In order to reach this aim, we use two different sources of information: (1) a public web server named DiseaseConnect ( http://disease-connect.org ) focused on the analysis of common genes and molecular mechanisms shared by diseases by integrating comprehensive omics and literature data; and (2) a literature search directed to find clinical comorbid relationships of infertility etiologies with only those diseases appearing after infertility is manifested. This literature search is performed because DiseaseConnect web server does not discriminate between pathologies emerging before, concomitantly or after infertility is manifested. Data show that different infertility etiologies not only share particular genes and/or molecular pathways with other pathologies but they have distinct clinical relationships with other diseases appearing after infertility is manifested. In particular, (1) testicular and high-grade prostate cancer in male infertility; (2) non-fatal stroke and endometrial cancer, and likely non-fatal coronary heart disease and ovarian cancer in polycystic ovary syndrome; (3) osteoporosis, psychosexual dysfunction, mood disorders and dementia in premature ovarian failure; (4) breast and ovarian cancer in carriers of BRCA1/2 mutations in diminished ovarian reserve; (5) clear cell and endometrioid histologic subtypes of invasive ovarian cancer, and likely low-grade serous invasive ovarian cancer, melanoma and non-Hodgkin lymphoma in endometriosis; and (6) endometrial and ovarian cancer in idiopathic infertility. The present data endorse the principle that the occurrence of a disease (in our case infertility) is non-random in the population and suggest that different infertility etiologies are genetically and clinically

  1. Short-Term (<8 Weeks) High-Intensity Interval Training in Diseased Cohorts.

    Science.gov (United States)

    Blackwell, James E M; Doleman, Brett; Herrod, Philip J J; Ricketts, Samuel; Phillips, Bethan E; Lund, Jonathan N; Williams, John P

    2018-04-21

    Exercise training regimes can lead to improvements in measures of cardiorespiratory fitness (CRF), improved general health, and reduced morbidity and overall mortality risk. High intensity interval training (HIIT) offers a time-efficient approach to improve CRF in healthy individuals, but the relative benefits of HIIT compared to traditional training methods are unknown in across different disease cohorts. This systematic review and meta-analysis compares CRF gains in randomised controlled trials of short-term (HIIT vs. either no exercise control (CON) or moderate continuous exercise training (MCT) within diseased cohorts. Literature searches of the following databases were performed: MEDLINE, EMBASE, CINAHL, AMED, and PubMed (all from inception to 1st December 2017), with further searches of Clinicaltrials.gov and citations via Google Scholar. Primary outcomes were effect upon CRF variables; VO2peak and Anaerobic Threshold (AT). Thirty-nine studies met the inclusion criteria. HIIT resulted in a clinically significant increase in VO2peak compared with CON (mean difference (MD) 3.32 ml[BULLET OPERATOR]kg[BULLET OPERATOR]min; 95% CI 2.56 to 2.08). Overall HIIT provided added benefit to VO2peak over MCT (MD 0.79 ml[BULLET OPERATOR]kg[BULLET OPERATOR]min; 95% CI 0.20 to 1.39). The benefit of HIIT was most marked in patients with cardiovascular disease when compared to MCT (VO2peak (MD 1.66 ml[BULLET OPERATOR]kg[BULLET OPERATOR]min; 95% CI 0.60 to 2.73); AT (MD 1.61 ml[BULLET OPERATOR]kg[BULLET OPERATOR]min; 95% CI 0.33 to 2.90)). HIIT elicits improvements in objective measures of CRF within 8 weeks in diseased cohorts compared to no intervention. When compared to MCT, HIIT imparts statistically significant additional improvements in measures of CRF, with clinically important additional improvements in VO2peak in cardiovascular patients. Comparative efficacy of HIIT vs MCT combined with an often reduced time commitment may warrant HIIT's promotion as a viable clinical

  2. Clinical utility of ustekinumab in Crohn’s disease

    Directory of Open Access Journals (Sweden)

    Kotze PG

    2018-02-01

    Full Text Available Paulo Gustavo Kotze,1,2 Christopher Ma,1 Abdulelah Almutairdi,1,3 Remo Panaccione1 1Inflammatory Bowel Disease Unit, Division of Gastroenterology and Hepatology, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; 2Inflammatory Bowel Disease Outpatient Clinics, Colorectal Surgery Unit, Catholic University of Paraná, Curitiba, Brazil; 3Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Abstract: The introduction of anti-tumor necrosis factor (TNF therapy marked an important milestone in the management of moderate-to-severe Crohn’s disease (CD. However, there remains a pressing demand for alternative therapeutic options for patients with primary nonresponse, secondary loss of response, or intolerable side effects to conventional treatment and TNF antagonists. Ustekinumab (UST is a fully human IgG1κ monoclonal antibody that inhibits the p40 subunit shared by the proinflammatory cytokines, the interleukin (IL-12 and -23. This blockade leads to dampening of the inflammatory cascade and differentiation of inflammatory T cells. The clinical development program for UST in CD includes dose finding Phase II (Crohn’s Evaluation of Response to Ustekinumab Anti-Interleukin-12/23 for Induction [CERTIFI] and the pivotal Phase III (UNITI trials that demonstrated both the clinical efficacy and safety in anti-TNF-naive and anti-TNF-exposed patients. Real-world evidence has further defined the role of UST in CD management. In this review, we discuss the mechanism of action of UST, describe the results of the randomized controlled trials with this agent, and review the real-world efficacy and safety data from observational cohorts. Finally, we identify areas of future research in the IL-12/23 inflammatory pathway and discuss the positioning of this novel therapeutic option in CD treatment algorithms. Keywords: ustekinumab, Crohn’s disease, interleukin

  3. Clinical profile of parkinson's disease: Experience of niger

    Directory of Open Access Journals (Sweden)

    Hamid Assadeck

    2018-01-01

    Full Text Available Background: Parkinson's disease (PD is a chronic neurodegenerative pathology with unknown etiology. It is characterized clinically by the classic triad that associated tremors, bradykinesia, and rigidity. In Niger, there are no data on PD. Aims: We aimed to provide the demographic and clinical profile of PD in patients from Niger to create a database on PD in Niger. Patients and Methods: We conducted a retrospective study at the Neurology Outpatient Clinic of the Hôpital National de Niamey (HNN, Niger over a period of 4.42 years from February 2009 to July 2013 collecting all cases of PD. The demographic and clinical features of all patients were collected and analyzed. Results: During the period of the study, 1695 patients consulted at the Neurology Outpatient Clinic of the HNN, among which 76 patients (4.48% had secondary parkinsonism and 25 patients (1.47% had features compatible with PD. Only patients with PD were included in this study. The mean age at onset of symptoms was 58 years (range: 42–74 years. The male sex was predominant (60% with a sex ratio of 1.5. The mean time interval from the onset of symptoms to diagnosis of PD was 1.8 years (range: 1–5 years. The tremor was the most common symptom (84%. Bradykinesia represented 64% of the symptoms and rigidity 20%. At the time of the diagnosis of PD, 8 patients (32% were in Stage I of the classification of Hoehn and Yahr, 16 patients (64% in Stage II, and 1 patient (4% in Stage III. The levodopa/carbidopa combination was the most used antiparkinsonian drug in our patients (88%. The mean time of follow-up of the patients was 2.5 years (range: 1–4.42 years. During the course of the disease, 9 patients (36% were in Stage II of the classification of Hoehn and Yahr, 13 patients (52% in Stage III, and 3 patients (12% in Stage IV. Conclusion: Our study provides demographic and clinical data of PD in patients from Niger and shows that the hospital frequency of this disease is low (1

  4. Occupational Lung Disease: Clinical-Pathological-Radiological Correlation

    International Nuclear Information System (INIS)

    Carrillo Bayona, Jorge Alberto; Rivera Bernal, Aura Lucia; Ojeda Paulina; Paez Garcia, Diana Sofia

    2008-01-01

    People are exposed to hundreds of substances daily, some of which may induce pulmonary injury. Occupational Lung Disease diagnosis requires 4 elements: Exposure to the harmful agent, adequate latency between exposure and beginning of the symptoms, syndrome with post-exposure abnormalities, and exclusion of other conditions which may otherwise explain signs and symptoms. Several occupational lung disease classifications based on structural or functional injury, type of agent, or both have been proposed. Generally, 5 groups are considered: Pneumoconiosis, hypersensitivity pneumonitis, toxic fumes exposure, asthma, and occupational lung infections. Conventional radiographs and in specific situations, CT, are crucial elements for the diagnosis of Occupational Lung Disease. In the patient with respiratory symptoms and altered imaging studies, the possibility of Occupational Lung Disease should be considered. Radiologist should be familiar the variety of substances that cause these entities and their radiological features. In this article Occupational Lung diseases are reviewed, including diagnostic criteria, classification, physiopathology, clinical and radiological manifestations as well as their corresponding histopathological features.

  5. Rare diseases in clinical endocrinology: a taxonomic classification system.

    Science.gov (United States)

    Marcucci, G; Cianferotti, L; Beck-Peccoz, P; Capezzone, M; Cetani, F; Colao, A; Davì, M V; degli Uberti, E; Del Prato, S; Elisei, R; Faggiano, A; Ferone, D; Foresta, C; Fugazzola, L; Ghigo, E; Giacchetti, G; Giorgino, F; Lenzi, A; Malandrino, P; Mannelli, M; Marcocci, C; Masi, L; Pacini, F; Opocher, G; Radicioni, A; Tonacchera, M; Vigneri, R; Zatelli, M C; Brandi, M L

    2015-02-01

    Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced. This document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables. This report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment.

  6. Late radiation-induced heart disease after radiotherapy. Clinical importance, radiobiological mechanisms and strategies of prevention

    International Nuclear Information System (INIS)

    Andratschke, Nicolaus; Maurer, Jean; Molls, Michael; Trott, Klaus-Ruediger

    2011-01-01

    The clinical importance of radiation-induced heart disease, in particular in post-operative radiotherapy of breast cancer patients, has been recognised only recently. There is general agreement, that a co-ordinated research effort would be needed to explore all the potential strategies of how to reduce the late risk of radiation-induced heart disease in radiotherapy. This approach would be based, on one hand, on a comprehensive understanding of the radiobiological mechanisms of radiation-induced heart disease after radiotherapy which would require large-scale long-term animal experiments with high precision local heart irradiation. On the other hand - in close co-operation with mechanistic in vivo research studies - clinical studies in patients need to determine the influence of dose distribution in the heart on the risk of radiation-induced heart disease. The aim of these clinical studies would be to identify the critical structures within the organ which need to be spared and their radiation sensitivity as well as a potential volume and dose effect. The results of the mechanistic studies might also provide concepts of how to modify the gradual progression of radiation damage in the heart by drugs or biological molecules. The results of the studies in patients would need to also incorporate detailed dosimetric and imaging studies in order to develop early indicators of impending radiation-induced heart disease which would be a pre-condition to develop sound criteria for treatment plan optimisation.

  7. Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.

    Directory of Open Access Journals (Sweden)

    Sonia Pavan

    Full Text Available Clinical practice guidelines (CPGs for rare diseases (RDs are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs. This article provides an analysis of selected CPGs by medical domain coverage, prevalence of diseases, languages and type of producer, and addresses the variability in CPG quality and availability. CPGs are identified via bibliographic databases, websites of research networks, expert centres or medical societies. They are assessed according to quality criteria derived from the Appraisal of Guidelines, REsearch and Evaluation (AGREE II Instrument. Only open access CPGs and documents for which permission from the copyright holders has been obtained are disseminated on the Orphanet website. From January 2012 to July 2015, 277 CPGs were disseminated, representing coverage of 1,122 groups of diseases, diseases or subtypes in the Orphanet database. No language restriction is applied, and so far 10 languages are represented, with a predominance of CPGs in English, French and German (92% of all CPGs. A large proportion of diseases with identified CPGs belong to rare oncologic, neurologic, hematologic diseases or developmental anomalies. The Orphanet project on CPG collection, evaluation and dissemination is a continuous process, with regular addition of new guidelines, and updates. CPGs meeting the quality criteria are integrated to the Orphanet database of rare diseases, together with other types of textual information and the appropriate services for patients, researchers and healthcare professionals in 40 countries.

  8. Short term outcome of varus derotation osteotomy in late presenting perthes disease

    Directory of Open Access Journals (Sweden)

    Narendra Joshi

    2018-01-01

    Full Text Available Background: Untreated Perthes disease can lead to osteoarthritis by the fourth decade. The treatment is conservative for children 10 years of age at presentation. All patients had limitation of abduction and internal rotation. Eight patients (53.33% had pain at the hip and 12 patients (80% had limp. Mean time between diagnosis and corrective surgery was 3 weeks. Results: The evaluation was done using caput index (CI and epiphyseal quotient (EQ and articulotrochanteric distance radiologically, range of motion and Harris Hip Score for clinical outcome. All the measurements were carried out on pre- and postoperative X-rays after 3 years followup and compared with the contralateral normal hip. After a mean followup period of 3.4 years, we noted the statistically significant difference between pre- and postoperative values. We noted that all (100% children in Stage IB, IIA and 50% children in Stage IIB achieved satisfactory results. There was a significant change (P = 0.000 in CI among all the patients after surgery. The final EQ after 3 years of VDRO was 0.606 and was significant (P = 0.0000. Conclusion: In our opinion, based on the encouraging short term radiological and clinical outcomes, VDRO may be regarded as a treatment procedure for late presenting Perthes disease in stage IB, IIA, IIB.

  9. Childhood optic chiasm gliomas: radiographic response following radiotherapy and long-term clinical outcome

    International Nuclear Information System (INIS)

    Tao, May L.; Barnes, Patrick D.; Billett, Amy L.; Leong, Traci; Shrieve, Dennis C.; Scott, R. Michael; Tarbell, Nancy J.

    1997-01-01

    Purpose: In children with chiasmal gliomas, radiation therapy can arrest progressive visual and neurologic impairment. We examined the radiographic response and clinical outcomes after irradiation. Methods and Materials: Forty-two children (median age at diagnosis, 6.6 years) with chiasmal gliomas were managed as follows: 11 asymptomatic patients with neurofibromatosis-1 (NF-1) were observed only; 2 patients, less than 3 years old, underwent surgery and chemotherapy to delay irradiation; and 29 patients with progressive disease received radiation with or without prior surgery or chemotherapy. Time to radiographic response, long-term tumor control and late sequelae were reviewed for the 29 irradiated patients. Results: The probability of at least 50% radiographic response at 24 months after irradiation was 18.1% and increased to 38.2% by 48 months and 45.9% by 60 months. By actuarial analysis, the median time for such radiographic response was 62 months. For the 29 irradiated patients, the 10-year freedom from progression and overall survival rates were 100% and 89%, respectively (median follow-up for surviving patients, 108 months). Stabilization or improvement in vision occurred in 81% of 26 evaluable irradiated patients. Conclusions: Notable radiographic response may be observed years after irradiation. Radiation therapy provides excellent long-term tumor control and vision preservation or improvement in the majority of patients with progressive chiasmal gliomas

  10. [Chronic obstructive pulmonary disease: I. Long-term prognostic scores].

    Science.gov (United States)

    Junod, Alain F

    2013-10-16

    The chronic obstructive pulmonary disease or COPD will probably be in the year 2020 the third cause of death in the world. It appears therefore appropriate to try to make available tools capable of assessing the prognosis of patients with this disease. In the first part of this series of two papers, the question of the prognosis of stable COPD over several years is addressed. Eight prognostic scores are discussed, all of them published between 2004 and 2012. Their components and characteristics are analysed and commented upon, with, in particular, emphasis on their discriminating power. An Internet program (www.medhyg. ch/scoredoc) supplements this review.

  11. Applicability of long-term electroencephalography in pre-mortem diagnosis of Creutzfeldt-Jakob disease: A case report.

    Science.gov (United States)

    Attaripour Isfahani, Sanaz; Dougherty, Michelle; Gliebus, Gediminas Peter

    2017-01-01

    Creutzfeldt-Jakob disease accounts for more than 90% of all sporadic prion disease cases. The molecular MM2 genotype has been divided into cortical and thalamic subtypes based on structures involved and is characterized clinically by progressive dementia without ataxia or typical electroencephalography changes. Proposed diagnostic criteria for MM2 cortical type sporadic Creutzfeldt-Jakob disease include progressive dementia, cortical hyper-intensity on diffusion-weighted magnetic resonance imaging, increased cerebrospinal fluid 14-3-3 protein level, and the exclusion of other types of dementia. The presence of periodic discharges on electroencephalography in MM2 cortical type were reported in 42% of the cases. We are reporting a case of sporadic Creutzfeldt-Jakob disease cortical MM2-type presenting with rapid cognitive decline, who survived 8 months since symptom onset. Brain imaging, cerebrospinal fluid analysis, and long-term electroencephalography monitoring were obtained and diagnosis was confirmed by autopsy. Short-term electroencephalography recording, performed 5 months after symptom onset, demonstrated diffuse background slowing without epileptiform activity. Long-term video electroencephalography monitoring demonstrated generalized slowing, maximum in bilateral frontal areas, which intermittently would become rhythmic (1-2 Hz) without hemispheric predominance. If the findings do not clearly meet the proposed clinical criteria for sporadic Creutzfeldt-Jakob disease, the use of long-term electroencephalography could increase the sensitivity. We question whether the lack of the characteristic findings on electroencephalography in some cases could be due to insufficient time of recording. Application of long-term electroencephalography monitoring increases the sensitivity of electroencephalography and the certainty of pre-mortem diagnosis of sporadic Creutzfeldt-Jakob disease.

  12. Patient-Reported Outcome Measures for Use in Clinical Trials and Clinical Practice in Inflammatory Bowel Diseases: A Systematic Review.

    Science.gov (United States)

    de Jong, Marin J; Huibregtse, Roxanne; Masclee, Ad A M; Jonkers, Daisy M A E; Pierik, Marie J

    2018-05-01

    Mucosal inflammation must be carefully monitored to improve the long-term outcomes of patients with inflammatory bowel diseases (IBD). Patient-reported outcome measures (PROMs) are used increasingly to monitor disease activity in clinical practice and as endpoints in clinical trials. We performed a systematic review to provide an overview of the available PROMs on IBD activity and to evaluate their diagnostic value. A systematic search of the PubMed, Medline, Cochrane library, and Embase databases using defined keywords, identified 973 articles. These were screened by 2 independent reviewers, and 37 articles on development or validation of PROMs to assess IBD activity were identified for further analysis. Based on the recommendations of the Food and Drug Administration (FDA), the following measurement properties were evaluated: content, construct, and criterion validity; reliability; and responsiveness to change. In addition, data on ease of use in clinical practice were collected. Seventeen articles presenting 20 different PROMs were included the final analysis, although none met all the FDA-recommended criteria. Only 2 PROMs (patient-reported Harvey Bradshaw Index and Simple Clinical Colitis Activity Index scores) reported patient involvement during its development. Only 6 PROMs (patient-reported global assessment, patient assessment of disease activity, mobile health index for Crohn's disease, mobile health index for ulcerative colitis, patient-reported outcome derived from the Mayo score, and the 6-point Mayo score) were validated as markers of IBD activity, using findings from endoscopy as the reference standard; these PROMs identified patients with mucosal inflammation with area under the curve values of 0.63-0.82. The mobile health index for CD and UC scores had the best measurement properties for use in clinical practice and in clinical trials. In a systematic review, we identified more than 20 PROMS that have been developed and tested for their ability to

  13. Idiopathic Canalicular Inflammatory Disease: New Disease Description of Clinical Patterns, Investigations, Management, and Outcomes.

    Science.gov (United States)

    Ali, Mohammad Javed

    2018-01-25

    The objective of this perspective is to present a separate disease description of "idiopathic canalicular inflammatory disease" and outline the diagnostic criteria and early experiences with its investigations and management. Retrospective case series of 44 canaliculi of 22 eyes of 11 patients presenting at a tertiary care Dacryology service over a period of 2 years with typical clinical patterns of inflammatory canaliculitis and its outcomes were studied. All the patients underwent microbiological work-up with culture and sensitivity, dacryoendoscopy imaging, serial Fourier domain ocular coherence tomography, and collagen vascular profiles. Stages in the evolution of the disease were studied. All patients were treated initially with topical steroids followed by punctal dilatation and placement of mini-monoka stents. Five patients in addition had a small biopsy from the inflamed portion of the vertical canaliculus. Stents were extubated at 6 weeks. Forty-four canaliculi were diagnosed to have idiopathic canalicular inflammatory disease during the study period. There was a female preponderance (81.8%, 9/11) and the mean age at presentation was 57 years. All patients presented with unilateral epiphora without any discharge, pain, or swelling. Collagen vascular profiles and screening for autoimmune diseases were negative. Clinical picture ranged from stages 1 to 5, consisting of edema, progressive centripetal vascularization, pouting of vascularized mucosa, membrane formation, and progressive scarring. The presentation begins in 1 eye and usually involves the other eye at a mean of 6 months. Ocular coherence tomography and dacryoendoscopy were of adjunctive value in the diagnosis. Histopathological examination was suggestive of a chronic inflammation. All patients had relentless progression to end-stage disease, although delayed significantly by steroids and monoka intubation. Idiopathic canalicular inflammatory disease has a distinct and typical clinical behavior and

  14. Wilson's disease in children: clinical and diagnostic features

    International Nuclear Information System (INIS)

    Ayesha, H.; Choudhry, A.A.; Javed, M.T.; Javed, F.

    2002-01-01

    Objective: To study the clinical and diagnostic laboratory features of Wilsons disease in children and adolescents. Design: A prospective cohort study. Place and Duration of study: The study included patients diagnosed as Wilson s disease at the Department of Pediatrics Allied Hospital, Punjab medical College, Faisalabad from May 1997 to June 2001. Patients and methods: Patients presenting with liver or suggestive neurological disease were investigated. Others were diagnosed as a result of family screening. Diagnosis of neurologic disease was made if two of the following were present: Typical neurological findings, Kayser Fleischer corneal rings and low serum ceruloplasmin ( 100 mu gm) free serum copper (>10 mu gm/dl). In other forms and for family screening, 24 hours. Urinary copper (> 100 mu gm), free serum copper (>10 mu gm/dl), and wherever possible liver biopsy for histopathology and cytochemical staining by rubeanic acid was also done. Results: Twenty-seven patients with a mean age of 10.2 years were diagnosed as suffering from Wilson disease. Mean age for hepatic and neurological disease was 9 years and 11.5 years respectively. Youngest patient (neurologic) was 6 years old. 48% cases presented with neurological, 41% with hepatic and 4% with skeletal manifestations while 7 % were asymptomatic. Mean duration of symptoms before diagnosis was 6.1 months. Dysarthria (84.6%), tremors (69.2%), rigidity and poor school performance and hand writing (61.5%), dysphagia (46.1%) and dystonia (38.5%), were the most common neurologic findings. Chronic liver disease was seen in 73 % while acute forms were seen in 27 % cases. Two cases presented with fulminant hepatic failure. Consanguineous marriage of the parents was found in 70 % and family history of disease was present in 65 % cases. K-F (Kayser Fleischer) rings and low serum ceruloplasmin(<20 mg/dl) was found in 85% of all patients. In non neurologic types other tests of copper metabolism were done. Elevated urinary

  15. The clinical use of structural MRI in Alzheimer disease

    Science.gov (United States)

    Frisoni, Giovanni B.; Fox, Nick C.; Jack, Clifford R.; Scheltens, Philip; Thompson, Paul M.

    2010-01-01

    Structural imaging based on magnetic resonance is an integral part of the clinical assessment of patients with suspected Alzheimer dementia. Prospective data on the natural history of change in structural markers from preclinical to overt stages of Alzheimer disease are radically changing how the disease is conceptualized, and will influence its future diagnosis and treatment. Atrophy of medial temporal structures is now considered to be a valid diagnostic marker at the mild cognitive impairment stage. Structural imaging is also included in diagnostic criteria for the most prevalent non-Alzheimer dementias, reflecting its value in differential diagnosis. In addition, rates of whole-brain and hippocampal atrophy are sensitive markers of neurodegeneration, and are increasingly used as outcome measures in trials of potentially disease-modifying therapies. Large multicenter studies are currently investigating the value of other imaging and nonimaging markers as adjuncts to clinical assessment in diagnosis and monitoring of progression. The utility of structural imaging and other markers will be increased by standardization of acquisition and analysis methods, and by development of robust algorithms for automated assessment. PMID:20139996

  16. [Adult congenital heart disease--between guidelines and clinical practice].

    Science.gov (United States)

    Chessa, Massimo

    2011-01-01

    Advances in medical and surgical management of congenital heart disease have changed the prognosis of infants and children with cardiac defects, so that an increasing number of patients reach adolescence and adult life, even those with complex defects. Recent data suggest that the number of adults with congenital heart disease, either repaired or not, approaches the number of children with the disorder. A cure is rarely achieved and ongoing surveillance and management in conjunction with specialists in this highly specialized field is mandatory to provide optimal care for patients. The profile of this patient population is going to change over the next few decades. Ideally specialist units should be established in appropriate geographic locations; patients need to be concentrated for expertise, experience, and optimal management. Less specialized regional centers and outpatient clinics in districts in connection with grown-up congenital heart disease units should be created. Specialist units should accept responsibility for educating the professionals, training the specialists, and sharing particular skills between each other. Guidelines and recommendations should help physicians to make decision in their daily practice. However, the final judgment regarding the care of an individual patient must be made by his/her physician. This article will briefly discuss some aspects of these dedicated guidelines and how they influence the clinical daily practice.

  17. Disease models of chronic inflammatory airway disease : applications and requirements for clinical trials

    NARCIS (Netherlands)

    Diamant, Zuzana; Clarke, Graham W.; Pieterse, Herman; Gispert, Juan

    Purpose of reviewThis review will discuss methodologies and applicability of key inflammatory models of respiratory disease in proof of concept or proof of efficacy clinical studies. In close relationship with these models, induced sputum and inflammatory cell counts will be addressed for

  18. Glycogen storage disease type I: clinical and laboratory profile

    Directory of Open Access Journals (Sweden)

    Berenice L. Santos

    2014-12-01

    Full Text Available OBJECTIVES: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. METHODS: This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. RESULTS: Twenty-one patients were included (median age 10 years, range 1-25 years, all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1-132 months, and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008. CONCLUSIONS: Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients.

  19. Whipple's disease. Report of five cases with different clinical features.

    Science.gov (United States)

    Ferrari, M de L; Vilela, E G; Faria, L C; Couto, C A; Salgado, C J; Leite, V R; Brasileiro Filho, G; Bambirra, E A; Mendes, C M; Carvalho, S de C; de Oliveira, C A; da Cunha, A S

    2001-01-01

    Whipple's disease (WD) is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female) ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocardiographic alterations after treatment. In one of the male patients the initial clinical manifestation was serologically negative spondylitis, with no diarrhea occurring at any time during follow-up. Ocular involvement associated with intestinal malabsorption and significant weight loss were observed in one case. In the other two cases, diarrhea was the major clinical manifestation. All patients were diagnosed by histological examination of the jejunal mucosa and, when indicated, of extraintestinal tissues by light and electron microscopy. After antibiotic treatment, full remission of symptoms occurred in all cases. A control examination of the intestinal mucosa performed after twelve months of treatment with sulfamethoxazole-trimethoprim revealed the disappearance of T. whippelii in four patients. The remaining patient was lost to follow-up.

  20. Whipple's disease. Report of five cases with different clinical features

    Directory of Open Access Journals (Sweden)

    FERRARI Maria de Lourdes de Abreu

    2001-01-01

    Full Text Available Whipple's disease (WD is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocardiographic alterations after treatment. In one of the male patients the initial clinical manifestation was serologically negative spondylitis, with no diarrhea occurring at any time during follow-up. Ocular involvement associated with intestinal malabsorption and significant weight loss were observed in one case. In the other two cases, diarrhea was the major clinical manifestation. All patients were diagnosed by histological examination of the jejunal mucosa and, when indicated, of extraintestinal tissues by light and electron microscopy. After antibiotic treatment, full remission of symptoms occurred in all cases. A control examination of the intestinal mucosa performed after twelve months of treatment with sulfamethoxazole-trimethoprim revealed the disappearance of T. whippelii in four patients. The remaining patient was lost to follow-up.

  1. Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.

    Science.gov (United States)

    Amber, Kyle T; Murrell, Dedee F; Schmidt, Enno; Joly, Pascal; Borradori, Luca

    2018-02-01

    Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. These autoantigens represent structural proteins important for maintenance of dermo-epidermal integrity. Bullous pemphigoid (BP) is the most common subepidermal autoimmune blistering disease of the skin and mucosae. Although the disease typically presents with a generalized blistering eruption associated with itch, atypical variants with either localized bullous lesions or "non-bullous" presentations are observed in approximately 20% of patients. A peculiar form of BP typically associated with pregnancy is pemphigoid gestationis. In anti-p200 pemphigoid, patients present with tense blisters on erythematosus or normal skin resembling BP, with a predilection for acral surfaces. These patients have antibodies targeting the 200-kDa basement membrane protein. Epidermolysis bullosa is a rare autoimmune blistering disease associated with autoantibodies against type VII collagen that can have several phenotypes including a classical form mimicking dystrophic epidermolysis bullosa, an inflammatory presentation mimicking BP, or mucous membrane pemphigoid-like lesions. Mucous membrane pemphigoid (MMP) is the term agreed upon by international consensus for an autoimmune blistering disorder, which affects one or more mucous membrane and may involve the skin. The condition involves a number of different autoantigens in the basement membrane zone. It may result in severe complications from scarring, such as blindness and strictures. Diagnosis of these diseases relies on direct immunofluorescence microscopy studies

  2. Long‐Term Post‐CABG Survival: Performance of Clinical Risk Models Versus Actuarial Predictions

    Science.gov (United States)

    Carr, Brendan M.; Romeiser, Jamie; Ruan, Joyce; Gupta, Sandeep; Seifert, Frank C.; Zhu, Wei

    2015-01-01

    Abstract Background/aim Clinical risk models are commonly used to predict short‐term coronary artery bypass grafting (CABG) mortality but are less commonly used to predict long‐term mortality. The added value of long‐term mortality clinical risk models over traditional actuarial models has not been evaluated. To address this, the predictive performance of a long‐term clinical risk model was compared with that of an actuarial model to identify the clinical variable(s) most responsible for any differences observed. Methods Long‐term mortality for 1028 CABG patients was estimated using the Hannan New York State clinical risk model and an actuarial model (based on age, gender, and race/ethnicity). Vital status was assessed using the Social Security Death Index. Observed/expected (O/E) ratios were calculated, and the models' predictive performances were compared using a nested c‐index approach. Linear regression analyses identified the subgroup of risk factors driving the differences observed. Results Mortality rates were 3%, 9%, and 17% at one‐, three‐, and five years, respectively (median follow‐up: five years). The clinical risk model provided more accurate predictions. Greater divergence between model estimates occurred with increasing long‐term mortality risk, with baseline renal dysfunction identified as a particularly important driver of these differences. Conclusions Long‐term mortality clinical risk models provide enhanced predictive power compared to actuarial models. Using the Hannan risk model, a patient's long‐term mortality risk can be accurately assessed and subgroups of higher‐risk patients can be identified for enhanced follow‐up care. More research appears warranted to refine long‐term CABG clinical risk models. doi: 10.1111/jocs.12665 (J Card Surg 2016;31:23–30) PMID:26543019

  3. Spectrum Of Congenital Heart Disease In Full Term Neonates.

    Science.gov (United States)

    Bibi, Saima; Hussain Gilani, Syed Yasir; Bibi, Shawana

    2018-01-01

    Congenital heart disease is a significant problem world over especially in neonates. Early diagnosis and prompt interventions in neonatal period precludes the mortality associated with this disorder. The objective of this study was to highlight the diversity of congenital cardiac defects in our region so that appropriate interventions are devised to minimize significant morbidity and mortality associated with this disorder. This descriptive cross-sectional study was conducted at the Neonatology Unit of Department of Paediatrics, Ayub Teaching Hospital from January 2015 to December 2016. Approval of ethical committee was taken. All fullterm neonates of either gender who presented in department of neonatology including those delivered in hospital or received from other sources (private settings, home deliveries), diagnosed as having congenital heart disease on echocardiography were included in the study. Preterm neonates of either gender were excluded from the study. Patient characteristics were recorded in a designed proforma. Data was entered in SPSS version 20 and analysed. A total of 89 neonates were included in the study. Mean age of presentation was 6.34±7.058 days and range of 1-28 days. There was a male preponderance with 57 (64%) male patients as compared to 32 (36%) female patients. Ventricular septal defect (VSD) was the commonest cardiac lesion being present in 34 (38.2%) patients. Other defects included complex congenital heart disease in 8 (9%), atrial septal defect (ASD) and transposition of great arteries (TGA) in 7 (7.9%) each, atrioventricular septal defect (AVSD) in 6 (6.7%) and Fallots's tetralogy (TOF) and hypoplastic left heart syndrome in 5 (5.6%) each.. Congenital heart disease is a problem of profound importance. It constitutes approximately one third of the total major congenital malformations. There is a diversity of cardiac lesions in our region that warrant early and prompt interventions so that the disease is recognized and treated at

  4. Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1?

    Directory of Open Access Journals (Sweden)

    Antonio Costantini

    2016-01-01

    Full Text Available Myotonic dystrophy type 1, also known as Steinert′s disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1 is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and peripheral nervous system, as well as in the muscular cells. Our aim was to investigate the potential therapeutical effects of long-term treatment with thiamine in myotonic dystrophy type 1 in an observational open-label pilot study. We described two patients with myotonic dystrophy type 1 treated with intramuscular thiamine 100 mg twice a week for 12 or 11 months. We evaluated the patients using the grading of muscle strength according to Medical Research Council (MRC, the Muscular Impairment Rating Scale (MIRS, and the Modified Barthel index. High-dose thiamine treatment was well tolerated and effective in improving the motor symptomatology, particularly the muscle strength evaluated with the MRC scale, and the patients′ activities of daily living using the Modified Barthel Index. At the end of treatment, the MRC score was 5 in the proximal muscles and 2-4 in the distal muscles (the MRC score before the treatment was 3-4 and 1-3, respectively. The MIRS grade improved by 25% compared to baseline for both patients. In patient #1, the Modified Barthel Index improved by 44%, and in patient #2 by 29%. These findings suggest that clinical outcomes are improved by long-term thiamine treatment.

  5. Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1?

    Science.gov (United States)

    Costantini, Antonio; Trevi, Erika; Pala, Maria Immacolata; Fancellu, Roberto

    2016-09-01

    Myotonic dystrophy type 1, also known as Steinert's disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1) is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and peripheral nervous system, as well as in the muscular cells. Our aim was to investigate the potential therapeutical effects of long-term treatment with thiamine in myotonic dystrophy type 1 in an observational open-label pilot study. We described two patients with myotonic dystrophy type 1 treated with intramuscular thiamine 100 mg twice a week for 12 or 11 months. We evaluated the patients using the grading of muscle strength according to Medical Research Council (MRC), the Muscular Impairment Rating Scale (MIRS), and the Modified Barthel index. High-dose thiamine treatment was well tolerated and effective in improving the motor symptomatology, particularly the muscle strength evaluated with the MRC scale, and the patients' activities of daily living using the Modified Barthel Index. At the end of treatment, the MRC score was 5 in the proximal muscles and 2-4 in the distal muscles (the MRC score before the treatment was 3-4 and 1-3, respectively). The MIRS grade improved by 25% compared to baseline for both patients. In patient #1, the Modified Barthel Index improved by 44%, and in patient #2 by 29%. These findings suggest that clinical outcomes are improved by long-term thiamine treatment.

  6. Long-term odor recognition memory in unipolar major depression and Alzheimer׳s disease.

    Science.gov (United States)

    Naudin, Marine; Mondon, Karl; El-Hage, Wissam; Desmidt, Thomas; Jaafari, Nematollah; Belzung, Catherine; Gaillard, Philippe; Hommet, Caroline; Atanasova, Boriana

    2014-12-30

    Major depression and Alzheimer׳s disease (AD) are often observed in the elderly. The identification of specific markers for these diseases could improve their screening. The aim of this study was to investigate long-term odor recognition memory in depressed and AD patients, with a view to identifying olfactory markers of these diseases. We included 20 patients with unipolar major depressive episodes (MDE), 20 patients with mild to moderate AD and 24 healthy subjects. We investigated the cognitive profile and olfactory memory capacities (ability to recognize familiar and unfamiliar odors) of these subjects. Olfactory memory test results showed that AD and depressed patients were characterized by significantly less correct responses and more wrong responses than healthy controls. Detection index did not differ significantly between patients with major depression and those with AD when the results were analyzed for all odors. However, MDE patients displayed an impairment of olfactory memory for both familiar and unfamiliar odors, whereas AD subjects were impaired only in the recognition of unfamiliar odors, with respect to healthy subjects. If preservation of olfactory memory for familiar stimuli in patients with mild to moderate AD is confirmed, this test could be used in clinical practice as a complementary tool for diagnosis. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  7. [Neuromuscular disease: respiratory clinical assessment and follow-up].

    Science.gov (United States)

    Martínez Carrasco, C; Villa Asensi, J R; Luna Paredes, M C; Osona Rodríguez de Torres, F B; Peña Zarza, J A; Larramona Carrera, H; Costa Colomer, J

    2014-10-01

    Patients with neuromuscular disease are an important group at risk of frequently suffering acute or chronic respiratory failure, which is their main cause of death. They require follow-up by a pediatric respiratory medicine specialist from birth or diagnosis in order to confirm the diagnosis and treat any respiratory complications within a multidisciplinary context. The ventilatory support and the cough assistance have improved the quality of life and long-term survival for many of these patients. In this paper, the authors review the pathophysiology, respiratory function evaluation, sleep disorders, and the most frequent respiratory complications in neuromuscular diseases. The various treatments used, from a respiratory medicine point of view, will be analyzed in a next paper. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  8. Megavoltage pituitary irradiation in the management of Cushing's disease and Nelson's syndrome: long-term follow-up

    International Nuclear Information System (INIS)

    Howlett, T.A.; Plowman, P.N.; Wass, J.A.H.; Rees, L.H.; Jones, A.E.; Besser, G.M.

    1989-01-01

    The authors report the long-term follow-up (up to 17.3 years) of the clinical and biochemical effects of megavoltage pituitary irradiation (radiotherapy;RT), administered as primary or secondary therapy, for pituitary Cushing's disease and Nelson's syndrome in 52 patients. Irradiation was administered, from a 4-15 MeV linear accelerator, via a three-field technique, to a total dose of 4500 cGy (rad) in 25 fractions over 35 days. (author)

  9. Comparison of Efficacy of Long?term Oral Treatment with Telmisartan and Benazepril in Cats with Chronic Kidney Disease

    OpenAIRE

    Sent, U.; G?ssl, R.; Elliott, J.; Syme, H. M.; Zimmering, T.

    2015-01-01

    Background The efficacy and benefits of telmisartan in cats with chronic kidney disease (CKD) have not previously been reported. Hypothesis Long?term treatment of cats with CKD using telmisartan decreases urine protein?to?creatinine ratio (UP/C) similar to benazepril. Animals Two?hundred and twenty?four client?owned adult cats with CKD. Methods Prospective, multicenter, controlled, randomized, parallel group, blinded clinical trial with noninferiority design. Cats were allocated in a 1 : 1 ra...

  10. Moyamoya Disease Clinical Course and Severity in Childhood

    Directory of Open Access Journals (Sweden)

    Ayse Kacar Bayram

    2016-01-01

    Full Text Available Aim: Moyamoya disease (MMD is a rare, progressive and oclusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries (ICA and its main branches. The purpose of this study is to evaluate the clinical course and severity of MMD in pediatric patients. Material and Method: We examined 5 consecutive pediatric patients with MMD, focusing on clinical and radiological features, the therapy and outcome over the 58-month follow-up period. Results: The study population consisted of 3 boys and 2 girls. The mean age at diagnosis of patients was 7.2 ± 3.4 years (age range: 3-10 years. The mean duration of follow-up was 30.4 ± 17.4 months (follow-up interval: 12-58 months. Neurological findings at presentation included: motor deficit in 4 patients (80.0%, epileptic seizures in 2 patients (40.0%, movement disorders in 3 patients (60.0%, and headache in 1 patients (20.0%. There was areas of infarction on brain MRI in all patients. Angiographic findings included: internal carotid artery stenosis in all patients, anterior cerebral artery stenosis in 3 patients, middle cerebral artery stenosis in 3 patients, posterior cerebral artery stenosis in 2 patients, and vertebral artery stenosis in 1 patient. Enoxaparine therapy was started to all patients. Subdural hematoma developed in 1 patient during follow-up. Cerebral infarctions recurred despite medical treatment in 4 patients. Discussion: Although this disease is rare, it is an important cause of pediatric stroke. MMD shows different clinical course and disease severity in childhood. Early diagnosis and appropriate treatment are crucial.

  11. Clinical evaluation of MRI for lumbar spinal disease

    International Nuclear Information System (INIS)

    Moriwaka, Yosuke; Nakayama, Sachiko; Murai, Nobuko; Watanabe, Katsushi; Kawano, Keiichiro; Tajima, Naoya; Kihara, Yasushi; Okada, Akihiko; Fujimoto, Toshiro.

    1985-01-01

    Thirty-two patients were examined to determine the clinical usefulness of magnetic resonance imaging (MRI) of the lumbar spine. MRI using a resistive magnet at 0.1 Tesla was compared with computed tomography (CT) and myelography. A saturation recovery (SR) technique with repetition time (TR) of 500 msec was used in all cases. There were 19 cases with disk herniation, 5 with canal stenosis, 2 with spondylosis deformans and 6 with other suspected disease. MRI showed the protrusion of disk, displacement of epidural fat and degenerative change of disk more clearly than CT and myelography. Of the 12 herniated disks, 8 disks were clearly shown and one was not detected by MRI. In some cases, herniated disk could not be differentiated from disk bulging. With further technical advance, MRI is likely to become the initial procedure for evaluation of lumbar spinal disease. (author)

  12. Clinical effect of Dilazep on ischemic heart disease

    International Nuclear Information System (INIS)

    Tsuda, Takashi; Hayashi, Senji; Shibata, Akira; Hama, Hitoshi; Mitani, Tohru.

    1982-01-01

    Dilazep tablets (300 mg/day) were administered to 9 patients with ischemic heart disease for more than 2 months. Stress myocardial scintigraphy was performed before and after the treatment to examine the clinical effect of this drug on the heart. The improvement rate of subjective symptoms was 57% (4/7 cases). No significant difference was observed in double product by the ergometer before and after the treatment, nor were any significant changes observed in ST by Master's two-step exercise test in any patient. The pre- to posttreatment improvement rate of myocardial uptake, demonstrated by stress myocardial scintigraphy, was 89% (8/9 cases). Thus, Dilazep tablets seemed to increase the blood flow in the ischemic area of the myocardium during exercise in ischemic heart disease. (Chiba, N.)

  13. Clinical evaluation of echography in diagnosis of thyroid disease

    International Nuclear Information System (INIS)

    Fritzsche, H.; Braendle, J.

    1983-01-01

    In 63 patients echography of thyroid was performed additionally to case history, palpation, scintigraphy and hormone tests for evaluating clinical significance of this method. The benefit of this technique is rapid measurement of thyroid size, demonstration of nodules in palpable diffuse goiters and differentiating of solid or cystic nodules of the thyroid. For diagnosis of autonomous areas in the thyroid scintigrahy remains the method of choice. Also there is no correlation of ultrasound findings and thyroid function. In routine diagnostic procedure of thyroid disease echography may replace scintigraphy only in diffuse goiter and if radionuclide imaging is not possible. Nevertheless ultrasonic evaluation of the thyroid is an important additional method in diagnostic of thyroid diseases. (Author)

  14. Epidemiology and introduction to the clinical presentation of Wilson disease.

    Science.gov (United States)

    Lo, Christine; Bandmann, Oliver

    2017-01-01

    Our understanding of the epidemiology of Wilson disease has steadily grown since Sternlieb and Scheinberg's first prevalence estimate of 5 per million individuals in 1968. Increasingly sophisticated genetic techniques have led to revised genetic prevalence estimates of 142 per million. Various population isolates exist where the prevalence of Wilson disease is higher still, the highest being 885 per million from within the mountainous region of Rucar in Romania. In Sardinia, where the prevalence of Wilson disease has been calculated at 370 per million births, six mutations account for around 85% of Wilson disease chromosomes identified. Significant variation in the patterns of presentation may however exist, even between individuals carrying the same mutations. At either extremes of presentation are an 8-month-old infant with abnormal liver function tests and individuals diagnosed in their eighth decade of life. Three main patterns of presentation have been recognized - hepatic, neurologic, and psychiatric - prompting their presentation to a diverse range of specialists. Deviations in the family history from the anticipated autosomal-recessive mode of inheritance, with apparent "pseudodominance" and mechanisms of inheritance that include uniparental isodisomy (the inheritance of both chromosomal copies from a single parent), may all further cloud the diagnosis. It can therefore take the efforts of an astute clinician with a high clinical index of suspicion to clinch the diagnosis of this eminently treatable condition. © 2017 Elsevier B.V. All rights reserved.

  15. Long-term Clinical Outcomes of Whole-Breast Irradiation Delivered in the Prone Position

    International Nuclear Information System (INIS)

    Stegman, Lauren D.; Beal, Katherine P.; Hunt, Margie A.; Fornier, Monica N.; McCormick, Beryl

    2007-01-01

    Purpose: The aim of this study was to evaluate retrospectively the effectiveness and toxicity of post-lumpectomy whole-breast radiation therapy delivered with prone positioning. Methods and Materials: Between September 1992 and August 2004, 245 women with 248 early-stage invasive or in situ breast cancers were treated using a prone breast board. Photon fields treated the whole breast to 46 to 50.4 Gy with standard fractionation. The target volume was clinically palpable breast tissue; no attempt was made to irradiate chest wall lymphatics. Tumor bed boosts were delivered in 85% of cases. Adjuvant chemotherapy and hormonal therapy were administered to 42% and 62% of patients, respectively. Results: After a median follow-up of 4.9 years, the 5 year actuarial true local and elsewhere ipsilateral breast tumor recurrence rates were 4.8% and 1.3%, respectively. The 5-year actuarial rates of regional nodal recurrence and distant metastases were 1.6% and 7.4%. Actuarial disease-free, disease-specific, and overall survival rates at 5 years were 89.4%, 97.3%, and 93%, respectively. Treatment breaks were required by 2.4% of patients. Grade 3 acute dermatitis and edema were each limited to 2% of patients. Only 4.9% of patients complained of acute chest wall discomfort. Chronic Grade 2 to 3 skin and subcutaneous tissue toxicities were reported in 4.4% and 13.7% of patients, respectively. Conclusions: Prone position breast radiation results in similar long-term disease control with a favorable toxicity profile compared with standard supine tangents. The anatomic advantages of prone positioning may contribute to improving the therapeutic ratio of post-lumpectomy radiation by improving dose homogeneity and minimizing incidental cardiac and lung dose

  16. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

    NARCIS (Netherlands)

    Rombach, Saskia M.; Smid, Bouwien E.; Bouwman, Machtelt G.; Linthorst, Gabor E.; Dijkgraaf, Marcel G. W.; Hollak, Carla E. M.

    2013-01-01

    Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness

  17. Acute Psychosis as Major Clinical Presentation of Legionnaires’ Disease

    Directory of Open Access Journals (Sweden)

    Ricardo Coentre

    2016-01-01

    Full Text Available We report a case of a 61-year-old woman who presented with acute psychosis as a major manifestation of Legionnaires’ disease in the absence of other neuropsychiatric symptoms. Clinical history revealed dry cough and nausea. Observation showed fever and auscultation crackles in the lower lobe of the right lung. Laboratory testing demonstrated elevated C-reactive protein and lung chest radiograph showed patchy peribronchial and right lower lobe consolidation. Soon after admission, she started producing purulent sputum. Epidemiological data suggested Legionella pneumophila as possible cause of the clinical picture that was confirmed by urinary antigen detection and polymerase chain reaction of the sputum. She was treated with levofloxacin 750 mg/day for 10 days with complete remission of pulmonary and psychiatric symptoms. She has not had further psychotic symptoms.

  18. Significance of mammographic signs in clinically occult disease

    Energy Technology Data Exchange (ETDEWEB)

    Waal, J.C. de; Steil, B.; Baltzer, J.; Vaillant, W.; Zander, J.

    1987-10-01

    The significance of various radiographic signs in 183 patients with clinically occult breast disease is described. 30.6% hat a carcinoma of the breast or a carcinoma in situ. The radiological features have varying predictive values and there is variation in the incidence of lymph node metastases. It is considered useful to classify the radiological appearances under the headings of round foci, star-shaped opacities, diffuse opacities, opacities with calcification and groups of micro-calcification. Despite the early diagnosis, 24% of patients already had lymph node metastases.

  19. Imaging and clinical characteristics of sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    HAN Shun-chang

    2013-04-01

    Full Text Available Five patients with sporadic Creutzfeldt-Jakob disease (sCJD presented rapidly progressive dementia which were subacute onset from 1 to 4 months. Among these cases, periodic synchronous discharge (PSD of electroencephalography (EEG was seen in 2 patients. Besides, 4 patients obtained positive results in cerebrospinal fluid (CSF analysis for 14-3-3 protein. The cranial MRI examination showed symmetrical or asymmetrical colored-ribbon-shaped high signals in cerebral cortex or basal ganglia by diffusion weighted imaging (DWI, suggesting that DWI had high sensitivity and specificity for the diagnosis of sCJD as a preferred method in the clinical examination of sCJD.

  20. Clinical neurogenetics: behavioral management of inherited neurodegenerative disease.

    Science.gov (United States)

    Wexler, Eric

    2013-11-01

    Psychiatric symptoms often manifest years before overt neurologic signs in patients with inherited neurodegenerative disease. The most frequently cited example of this phenomenon is the early onset of personality changes in "presymptomatic" Huntington patients. In some cases the changes in mood and cognition are even more debilitating than their neurologic symptoms. The goal of this article is to provide the neurologist with a concise primer that can be applied in a busy clinic or private practice. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. Clinical value of natriuretic peptides in chronic kidney disease.

    Science.gov (United States)

    Santos-Araújo, Carla; Leite-Moreira, Adelino; Pestana, Manuel

    2015-01-01

    According to several lines of evidence, natriuretic peptides (NP) are the main components of a cardiac-renal axis that operate in clinical conditions of decreased cardiac hemodynamic tolerance to regulate sodium homeostasis, blood pressure and vascular function. Even though it is reasonable to assume that NP may exert a relevant role in the adaptive response to renal mass ablation, evidence gathered so far suggest that this contribution is probably complex and dependent on the type and degree of the functional mass loss. In the last years NP have been increasingly used to diagnose, monitor treatment and define the prognosis of several cardiovascular (CV) diseases. However, in many clinical settings, like chronic kidney disease (CKD), the predictive value of these biomarkers has been questioned. In fact, it is now well established that renal function significantly affects the plasmatic levels of NP and that renal failure is the clinical condition associated with the highest plasmatic levels of these peptides. The complexity of the relation between NP plasmatic levels and CV and renal functions has obvious consequences, as it may limit the predictive value of NP in CV assessment of CKD patients and be a demanding exercise for clinicians involved in the daily management of these patients. This review describes the role of NP in the regulatory response to renal function loss and addresses the main factors involved in the clinical valorization of the peptides in the context of significant renal failure. Copyright © 2015 The Authors. Published by Elsevier España, S.L.U. All rights reserved.

  2. Pre-clinical evaluation of OxyChip for long-term EPR oximetry.

    Science.gov (United States)

    Hou, Huagang; Khan, Nadeem; Gohain, Sangeeta; Kuppusamy, M Lakshmi; Kuppusamy, Periannan

    2018-03-16

    Tissue oxygenation is a critical parameter in various pathophysiological situations including cardiovascular disease and cancer. Hypoxia can significantly influence the prognosis of solid malignancies and the efficacy of their treatment by radiation or chemotherapy. Electron paramagnetic resonance (EPR) oximetry is a reliable method for repeatedly assessing and monitoring oxygen levels in tissues. Lithium octa-n-butoxynaphthalocyanine (LiNc-BuO) has been developed as a probe for biological EPR oximetry, especially for clinical use. However, clinical applicability of LiNc-BuO crystals is hampered by potential limitations associated with biocompatibility, biodegradation, or migration of individual bare crystals in tissue. To overcome these limitations, we have embedded LiNc-BuO crystals in polydimethylsiloxane (PDMS), an oxygen-permeable biocompatible polymer and developed an implantable/retrievable form of chip, called OxyChip. The chip was optimized for maximum spin density (40% w/w of LiNc-BuO in PDMS) and fabricated in a form suitable for implantation using an 18-G syringe needle. In vitro evaluation of the OxyChip showed that it is robust and highly oxygen sensitive. The dependence of its EPR linewidth to oxygen was linear and highly reproducible. In vivo efficacy of the OxyChip was evaluated by implanting it in rat femoris muscle and following its response to tissue oxygenation for up to 12 months. The results revealed preservation of the integrity (size and shape) and calibration (oxygen sensitivity) of the OxyChip throughout the implantation period. Further, no inflammatory or adverse reaction around the implantation area was observed thereby establishing its biocompatibility and safety. Overall, the results demonstrated that the newly-fabricated high-sensitive OxyChip is capable of providing long-term measurements of oxygen concentration in a reliable and repeated manner under clinical conditions.

  3. CLINICAL AND PHARMACOLOGICAL PECULIARITIES OF CETIRIZINE USE FOR THE THERAPY OF ALLERGIC DISEASES IN CHILDREN

    Directory of Open Access Journals (Sweden)

    Yu. G. Levina

    2014-01-01

    Full Text Available The review is dedicated to treatment of allergic diseases in children, particularly to the use of the 2nd generation antihistamine. It demonstrates that mediator histamine has the crucial role in pathophysiology of the allergic reaction. Antihistamines block histamine action aimed at H1 receptors by way of competitive inhibition. The 2nd generation antihistamines are the drugs of choice for the treatment of allergic diseases due to the absence of sedative effect. The review presents clinical and pharmacological description of the selective 2nd generation antihistamine cetirizine, efficacy and safety of which have been appraised in numerous long-term clinical studies in children with allergic rhinitis, urticaria and atopic dermatitis. 

  4. Efficacy of long-term intralesional triamcinolone in Morbihan's disease and its possible association with mast cell infiltration.

    Science.gov (United States)

    Tsiogka, Aikaterini; Koller, Josef

    2018-04-23

    Morbihan's disease is characterized by chronic persistent facial edema of the upper half of the face, absence of typical diagnostic findings, and refractoriness to treatment. A 44-year-old man was diagnosed with Morbihan's disease based on clinical signs and histopathology, which showed dermal edema in upper dermis, discrete lymphocytic infiltrate without granulomatous reaction, and mast cell infiltration. After long-term therapy with intralesional triamcinolone a remarkable objective and subjective clinical response was observed. Reported cases of Morbihan's disease are reviewed, with respect to their treatment and histopathological findings. Mast cell infiltration has been observed on histopathology in most patients who responded to intralesional triamcinolone, suggesting a possible marker of response. The long-lasting response seen in our case indicates the efficacy of intralesional triamcinolone in this rare condition. © 2018 Wiley Periodicals, Inc.

  5. LONG-TERM OUTCOME OF THE DIFFERENT TREATMENT ALTERNATIVES FOR RECURRENT AND PERSISTENT CUSHING DISEASE.

    Science.gov (United States)

    Espinosa-de-Los-Monteros, Ana Laura; Sosa-Eroza, Ernesto; Espinosa, Etual; Mendoza, Victoria; Arreola, Rocio; Mercado, Moises

    2017-07-01

    Treatment alternatives for persistent and recurrent Cushing disease (CD) include pituitary surgical re-intervention, radiation therapy (RT), pharmacotherapy, and bilateral adrenalectomy (BA). The decision of which of these alternatives is better suited for the individual patient rests on clinical judgment and the availability of resources. This retrospective cohort study was performed at a referral center to evaluate the long-term efficacy of different secondary interventions for persistent and recurrent CD. We evaluated the hospital charts of 84 patients (77 female, median age 34 years, median follow up 6.3 years) with CD diagnosed, treated, and followed at our multidisciplinary clinic according to a pre-established protocol. Of the 81 patients who were initially treated with transsphenoidal surgery (TSS), 61.7% had a long-lasting remission, 16% had persistent disease, and 22% achieved remission but relapsed during follow-up. The most frequently used secondary treatment was pituitary re-intervention, followed by ketoconazole, RT, and BA. Early remissions were observed in 66.6% of the re-operated and in 58.3% of the radiated patients; long-lasting remission was achieved in 33.3% and 41.6% of these patients, respectively. Nelson syndrome developed in 41.6% of the patients who underwent BA. Upon last follow-up, 88% of all the patients are in remission, and 9.5% are biochemically controlled with ketoconazole. The efficacy of treatment alternatives for recurrent or persistent CD varies considerably among patients and multiple interventions are often required to achieve long-lasting remission. ACTH = adrenocorticotrophic hormone; BA = bilateral adrenalectomy; CBG = cabergoline; CD = Cushing disease; CV = coefficient of variation; DXM = dexamethasone; IQR = interquartile range; RT = radiation therapy; SRS = stereotactic radiosurgery; TSS = transsphenoidal surgery; UFC = urinary free cortisol; ULN = upper limit of normal.

  6. Targeting Prodromal Alzheimer Disease With Avagacestat: A Randomized Clinical Trial.

    Science.gov (United States)

    Coric, Vladimir; Salloway, Stephen; van Dyck, Christopher H; Dubois, Bruno; Andreasen, Niels; Brody, Mark; Curtis, Craig; Soininen, Hilkka; Thein, Stephen; Shiovitz, Thomas; Pilcher, Gary; Ferris, Steven; Colby, Susan; Kerselaers, Wendy; Dockens, Randy; Soares, Holly; Kaplita, Stephen; Luo, Feng; Pachai, Chahin; Bracoud, Luc; Mintun, Mark; Grill, Joshua D; Marek, Ken; Seibyl, John; Cedarbaum, Jesse M; Albright, Charles; Feldman, Howard H; Berman, Robert M

    2015-11-01

    Early identification of Alzheimer disease (AD) is important for clinical management and affords the opportunity to assess potential disease-modifying agents in clinical trials. To our knowledge, this is the first report of a randomized trial to prospectively enrich a study population with prodromal AD (PDAD) defined by cerebrospinal fluid (CSF) biomarker criteria and mild cognitive impairment (MCI) symptoms. To assess the safety of the γ-secretase inhibitor avagacestat in PDAD and to determine whether CSF biomarkers can identify this patient population prior to clinical diagnosis of dementia. A randomized, placebo-controlled phase 2 clinical trial with a parallel, untreated, nonrandomized observational cohort of CSF biomarker-negative participants was conducted May 26, 2009, to July 9, 2013, in a multicenter global population. Of 1358 outpatients screened, 263 met MCI and CSF biomarker criteria for randomization into the treatment phase. One hundred two observational cohort participants who met MCI criteria but were CSF biomarker-negative were observed during the same study period to evaluate biomarker assay sensitivity. Oral avagacestat or placebo daily. Safety and tolerability of avagacestat. Of the 263 participants in the treatment phase, 132 were randomized to avagacestat and 131 to placebo; an additional 102 participants were observed in an untreated observational cohort. Avagacestat was relatively well tolerated with low discontinuation rates (19.6%) at a dose of 50 mg/d, whereas the dose of 125 mg/d had higher discontinuation rates (43%), primarily attributable to gastrointestinal tract adverse events. Increases in nonmelanoma skin cancer and nonprogressive, reversible renal tubule effects were observed with avagacestat. Serious adverse event rates were higher with avagacestat (49 participants [37.1%]) vs placebo (31 [23.7%]), attributable to the higher incidence of nonmelanoma skin cancer. At 2 years, progression to dementia was more frequent in the PDAD

  7. Measurement of leukocyte rheology in vascular disease: clinical rationale and methodology. International Society of Clinical Hemorheology.

    Science.gov (United States)

    Wautier, J L; Schmid-Schönbein, G W; Nash, G B

    1999-01-01

    The measurement of leukocyte rheology in vascular disease is a recent development with a wide range of new opportunities. The International Society of Clinical Hemorheology has asked an expert panel to propose guidelines for the investigation of leukocyte rheology in clinical situations. This article first discusses the mechanical, adhesive and related functional properties of leukocytes (especially neutrophils) which influence their circulation, and establishes the rationale for clinically-related measurements of parameters which describe them. It is concluded that quantitation of leukocyte adhesion molecules, and of their endothelial receptors may assist understanding of leukocyte behaviour in vascular disease, along with measurements of flow resistance of leukocytes, free radical production, degranulation and gene expression. For instance, vascular cell adhesion molecule (VCAM-1) is abnormally present on endothelial cells in atherosclerosis, diabetes mellitus and inflammatory conditions. Soluble forms of intercellular adhesion molecule (ICAM-1) or VCAM can be found elevated in the blood of patients with rheumatoid arthritis or infections disease. In the second part of the article, possible technical approaches are presented and possible avenues for leukocyte rheological investigations are discussed.

  8. Long Term Clinical Prognostic Factors in Relapsing-Remitting Multiple Sclerosis: Insights from a 10-Year Observational Study.

    Directory of Open Access Journals (Sweden)

    Gabriel Bsteh

    Full Text Available Multiple sclerosis (MS has a highly heterogenic course making prediction of long term outcome very difficult.The objective was to evaluate current and identify additional clinical factors that are linked to long term outcome of relapsing-remitting MS assessed by disability status 10 years after disease onset.This observational study included 793 patients with relapsing-remitting MS. Clinical factors hypothesized to influence long term outcome measured by EDSS scores 10 years after disease onset were analysed by Kaplan-Meier-estimates. Multinomial logistic regression models regarding mild (EDSS ≤2.5, moderate (EDSS 3.0-5.5 or severe (EDSS ≥6.0 disability were calculated to correct for confounders.Secondary progression was the strongest predictor of severe disability (Hazard ratio [HR] 503.8, 95% confidence interval [CI] 160.0-1580.1; p<0.001. Complete remission of neurological symptoms at onset reduced the risk of moderate disability (HR 0.42; CI 0.23-0.77; p = 0.005, while depression (HR 3.59; CI 1.14-11.24; p = 0.028 and cognitive dysfunction (HR 4.64; CI 1.11-19.50; p = 0.036 10 years after disease onset were associated with severe disability. Oligoclonal bands and pregnancy were not correlated with disability.We were able to identify clinically apparent chronic depression and cognitive dysfunction to be associated with adverse long term outcome in MS and to confirm that pregnancy has no negative impact. Additionally, we emphasize the positive predictive value of complete remission of initial symptoms.

  9. Role of clinical questionnaires in optimizing everyday care of chronic obstructive pulmonary disease

    Science.gov (United States)

    Jones, Paul W; Price, David; van der Molen, Thys

    2011-01-01

    Chronic obstructive pulmonary disease (COPD) is a leading cause of disability in all its stages, and death in patients with moderate or severe obstruction. At present, COPD is suboptimally managed; current health is often not measured properly and hardly taken into account in management plans, and the future risk for patients with regard to health status and quality of life is not being evaluated. This review addresses the effect of COPD on the lives of patients and examines ways in which existing assessment tools meet physicians’ needs for a standardized, simple method to measure consistently the full impact of COPD on patients in routine clinical practice. Current assessment of COPD severity tends to focus on airflow limitation, but this does not capture the full impact of the disease and is not well correlated with patient perception of symptoms and health-related quality of life. Qualitative studies have demonstrated that patients usually consider COPD impact in terms of frequency and severity of symptoms, and physical and emotional wellbeing. However, patients often have difficulty expressing their disease burden and physicians generally have insufficient time to collect this information. Therefore, it is important that methods are implemented to help generate a more complete understanding of the impact of COPD. This can be achieved most efficiently using a quick, reliable, and standardized measure of disease impact, such as a short questionnaire that can be applied in daily clinical practice. Questionnaires are precision instruments that contribute sensitive and specific information, and can potentially help physicians provide optimal care for patients with COPD. Two short, easy-to-use, specific measures, ie, the COPD Assessment Test and the Clinical COPD Questionnaire, enable physicians to assess patients’ health status accurately and improve disease management. Such questionnaires provide important measurements that can assist primary care physicians to

  10. Clinical spectrum of Castleman disease-associated neuropathy.

    Science.gov (United States)

    Naddaf, Elie; Dispenzieri, Angela; Mandrekar, Jay; Mauermann, Michelle L

    2016-12-06

    To define the peripheral neuropathy phenotypes associated with Castleman disease. We conducted a retrospective chart review for patients with biopsy-proven Castleman disease evaluated between January 2003 and December 2014. Patients with associated peripheral neuropathy were identified and divided into 2 groups: those with Castleman disease without POEMS syndrome (CD-PN) and those with Castleman disease with POEMS syndrome (CD-POEMS). We used a cohort of patients with POEMS as controls. Clinical, electrodiagnostic, and laboratory characteristics were collected and compared among patient subgroups. There were 7 patients with CD-PN, 20 with CD-POEMS, and 122 with POEMS. Patients with CD-PN had the mildest neuropathy characterized by predominant sensory symptoms with no pain and mild distal sensory deficits (median Neuropathy Impairment Score of 7 points). Although both patients with CD-POEMS and patients with POEMS had a severe sensory and motor neuropathy, patients with CD-POEMS were less affected (median Neuropathy Impairment Score of 33 and 66 points, respectively). The degree of severity was also reflected on electrodiagnostic testing in which patients with CD-PN demonstrated a mild degree of axonal loss, followed by patients with CD-POEMS and then those with POEMS. Demyelinating features, defined by European Federation of Neurologic Societies/Peripheral Nerve Society criteria, were present in 43% of the CD-PN, 78% of the CD-POEMS, and 86% of the POEMS group. There is a spectrum of demyelinating peripheral neuropathies associated with Castleman disease. CD-PN is sensory predominant and is the mildest phenotype, whereas CD-POEMS is a more severe sensory and motor neuropathy. Compared to the POEMS cohort, those with CD-POEMS neuropathy have a similar but less severe phenotype. Whether these patients respond differently to treatment deserves further study. © 2016 American Academy of Neurology.

  11. [Long-term disease in Danish children reported by the parents].

    Science.gov (United States)

    Nielsen, Anne M; Koefoed, Birgitte Gade; Møller, Ralf; Laursen, Bjarne

    2006-01-23

    The aim of this study was to report the prevalence and nature of long-term diseases and their consequences in children under the age of 16 in Denmark, and to identify the socio-demographic determinants of disease. Parents and stepparents participating in the Danish Health and Morbidity Survey, 2000, were interviewed at home about long-term diseases, including impairments and sequelae after injury and disease, in children under the age of 16 living at home. Answers were given for 7,670 children, and diseases were coded according to ICD-10 by two doctors. Logistic regression analysis was used to identify the determinants and consequences of disease. A total of 16.2% of children had one or more long-term diseases, boys (17.5%) more frequently than girls (14.8%). The prevalence increased through the first six years of life. A social gradient was seen: children of parents with low socioeconomic status or with little education had a higher prevalence. The most frequent disease was asthma (4.9%). Also frequent were congenital disorders (1.6%), otitis media (1.4%) and hearing impairment (0.6%). Children with long-term disease suffered more frequently than others from poor health in general, recent sick leave and poor thriving. The figures for long-term disease reported by the parents participating in the study were in accordance with what was found in earlier studies, but stigmatising and less severe diseases, as well as periodically recurring diseases, were probably underreported. Attention should be paid to the high prevalence of asthma, to the poorer thriving and to the general health status of children with long-term disease, and to the social inequality in children's health.

  12. Clinical, psychophysiological and psychological aspects of risk factors of periodontal disease development in clinically healthy persons

    Directory of Open Access Journals (Sweden)

    I.N. Nikulina

    2009-12-01

    Full Text Available The research goal is to determine risk factors of periodontal disease development, psychophysiological personal types and their interrelations in clinically healthy persons. 47 first-year cadets of St.-Petersburg Military School of radio electronics have been examined. This group of respondents has been chosen by presence of such social stressor as change of place of living (97,9% cadets have arrived in St.-Petersburg from other cities and republics of the Russian Federation and strict disciplinary conditions. The research has revealed a low level of oral hygiene, cases of mild gingivitis in most respondents. The general mental state of group under study is characterized by raised level of personal anxiety and low indices of reactive anxiety. The examined group has demonstrated anxiety, tension, indecision and lowered stress stability. Clinically healthy persons are more liable to develop inflammatory and inflammatory-destructive periodontal diseases. It was possible to determine psychophysiological features correlated with physiological parameters of risk degree of periodontal diseases. It may have a great significance in defining of periodontal disease etiology and pathogenesis

  13. Perceptions of dry eye disease management in current clinical practice.

    Science.gov (United States)

    Williamson, Jennifer F; Huynh, Kyle; Weaver, Mark A; Davis, Richard M

    2014-03-01

    To assess the perceptions of eye care providers regarding the clinical management of dry eye. Invitations to complete a 17-question online survey were mailed to 400 members of the North Carolina Ophthalmology and Optometry Associations including community optometrists, comprehensive ophthalmologists, and cornea specialists. The survey was completed by 100 eye care providers (25% response rate). Providers reported burning (46.5%) as the most frequent symptom described by patients, followed by foreign body sensation (30.3%) and tearing (17.2%). Most respondents (80.8%) listed artificial tears as the recommended first-line treatment, even though providers reported high failure rates for both artificial tears and cyclosporine A (Restasis). Rheumatoid arthritis, Sjögren syndrome, affective disorders such as anxiety and depression, history of photorefractive surgery, smoking, and thyroid disease were acknowledged as common comorbid conditions. The survey provided an informative snapshot into the preferences of eye care providers concerning the diagnosis and management of dry eye disease. Overall, burning was the most common symptom reported by patients. Providers relied more on patient history in guiding their clinical decisions than objective signs. The survey underscores the incongruence when comparing subjective symptoms with objective signs, thereby highlighting the urgent need for the development of reliable metrics to better quantify dry eye symptoms and also the development of a more sensitive and specific test that can be used as the gold standard to diagnose dry eye.

  14. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

    Science.gov (United States)

    Hendriksz, Christian J; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Then Bergh, Florian; Topçu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A

    2017-05-01

    Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups ("clinical niches") have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes. Twelve potential clinical niches identified by clinical experts were evaluated based on a comprehensive, non-systematic review of literature published to date. Relevant publications were identified by targeted literature searches of EMBASE and PubMed using key search terms specific to each niche. Articles published in English or other European languages up to 2016 were included. Several niches were found to be relevant based on available data: movement disorders (early-onset ataxia and dystonia), organic psychosis, early-onset cholestasis/(hepato)splenomegaly, cases with relevant antenatal findings or fetal abnormalities, and patients affected by family history, consanguinity, and endogamy. Potentially relevant niches requiring further supportive data included: early-onset cognitive decline, frontotemporal dementia, parkinsonism, and chronic inflammatory CNS disease. There was relatively weak evidence to suggest amyotrophic lateral sclerosis or progressive supranuclear gaze palsy as potential niches. Several clinical niches have been identified that harbor patients at increased risk of NP-C.

  15. AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY DISEASE STATE CLINICAL REVIEW: DIAGNOSIS OF RECURRENCE IN CUSHING DISEASE.

    Science.gov (United States)

    Fleseriu, Maria; Hamrahian, Amir H; Hoffman, Andrew R; Kelly, Daniel F; Katznelson, Laurence

    2016-12-01

    Recurrence of hypercortisolemia after initial treatment of Cushing disease (CD) is more common than previously thought, with a third of patients suffering a recurrence over their lifetime. Awareness of this high rate and delayed timeline (sometimes decades) of potential recurrence is critical and patients with CD should be monitored at regular intervals throughout their lives. In this manuscript, we review the complex evaluation needed for defining CD remission versus persistent disease after surgery, and focus on challenges in diagnosing early recurrent hypercortisolemia. Late night salivary cortisol appears to be an earlier predictor of recurrence when compared with urinary free cortisol (UFC) excretion. We also review the criteria suggested to define recurrence of hypercortisolemia in patients treated with medical therapy. Further research is needed to determine the optimal way to evaluate a patient with CD recurrence as well as the riskbenefit ratio of treatment in early, mild recurrent disease. ACTH = adrenocorticotropic hormone AI = adrenal insufficiency CD = Cushing disease CDDT = coupled dexamethasone desmopressin test CR = circadian rhythm CRH = corticotropin-releasing hormone GC = glucocorticoid GCR = global clinical response HPA = hypothalamic-pituitary-adrenal LDDST = low-dose dexamethasone suppression test LNSC = late-night salivary cortisol ODST = overnight dexamethasone suppression test TSS = trans-sphenoidal surgery.

  16. Nutritional Risk, Micronutrient Status and Clinical Outcomes: A Prospective Observational Study in an Infectious Disease Clinic

    Directory of Open Access Journals (Sweden)

    Oguzhan Sıtkı Dizdar

    2016-02-01

    Full Text Available Malnutrition has been associated with increased morbidity and mortality. The objective of this study was to determine the nutritional status and micronutrient levels of hospitalized patients in an infectious disease clinic and investigate their association with adverse clinical outcomes. The nutritional status of the study participants was assessed using the Nutritional Risk Screening 2002 (NRS 2002 and micronutrient levels and routine biochemical parameters were tested within the first 24 h of the patient’s admission. The incidence of zinc, selenium, thiamine, vitamin B6, vitamin B12 deficiency were 66.7% (n = 40, 46.6% (n = 29, 39.7% (n = 27, 35.3% (n = 24, 14.1% (n = 9, respectively. Selenium levels were significantly higher in patients with urinary tract infections, but lower in soft tissue infections. Copper levels were significantly higher in patients with soft tissue infections. In the Cox regression models, lower albumin, higher serum lactate dehydrogenase levels and higher NRS-2002 scores were associated with increased death. Thiamine, selenium, zinc and vitamin B6 deficiencies but not chromium deficiencies are common in infectious disease clinics. New associations were found between micronutrient levels and infection type and their adverse clinical outcomes. Hypoalbuminemia and a high NRS-2002 score had the greatest accuracy in predicting death, systemic inflammatory response syndrome and sepsis on admission.

  17. [Clinical stages of patients with Alzheimer disease treated in specialist clinics in Spain. The EACE study].

    Science.gov (United States)

    Alom Poveda, J; Baquero, M; González-Adalid Guerreiro, M

    2013-10-01

    The diagnostic paradigm of Alzheimer disease (AD) is changing; there is a trend toward diagnosing the disease in its early stages, even before the complete syndrome of dementia is apparent. The clinical stage at which AD is usually diagnosed in our area is unknown. Therefore, the purpose of this study is to describe the clinical stages of AD patients at time of diagnosis. Multicentre, observational and cross-sectional study. Patients with probable AD according to NINCDS-ARDRA criteria, attended in specialist clinics in Spain, were included in the study. We recorded the symptom onset to evaluation and symptom onset to diagnosis intervals and clinical status of AD (based on MMSE, NPI questionnaire, and CDR scale). Participants in this study included 437 specialists representing all of Spain's autonomous communities and a total of 1,707 patients, of whom 1,694 were included in the analysis. Mean MMSE score was 17.6±4.8 (95% CI:17.4-17.9). Moderate cognitive impairment (MMSE between 10 and 20) was detected in 64% of the patients, and severe cognitive impairment (MMSEde Neurología. Published by Elsevier Espana. All rights reserved.

  18. A study of occupational therapy students' stress coping in the term of clinical practice

    OpenAIRE

    立石, 恵子; 立石, 修康; タテイシ, ケイコ; タテイシ, ノブヤス; Keiko, TATEISHI; Nobuyasu, TATEISHI

    2005-01-01

    The purpose of this study is to investigate students' stress coping in the term of clinical practice. We ded questionnaire to 30 students after clinical practice. The result shows forty-six stress situations were observed. Most of the students felt the stress that the supervisor advied about general manners or behaviors. Such as communication with patients and clinical staffs, students personality, speaking volume. We categorized the stress coping strategies into two types. The result indicat...

  19. Clinical validation of the CHRONIOUS wearable system in patients with chronic disease.

    Science.gov (United States)

    Bellos, Christos; Papadopoulos, Athanassios; Rosso, Roberto; Fotiadis, Dimitrios I

    2013-01-01

    The CHRONIOUS system defines a powerful and easy to use framework which has been designed to provide services to clinicians and their patients suffering from chronic diseases. The system is composed of a wearable shirt that integrate several body sensors, a portable smart device and a central sub-system that is responsible for the long term storage of the collected patient's data. A multi-parametric expert system is developed for the analysis of the collected data using intelligent algorithms and complex techniques. Apart for the vital signals, dietary habits, drug intake, activity data, environmental and biochemical parameters are recorded. The CHRONIOUS platform is validated through clinical trials in several medical centers and patient's home environments recruiting patients suffering from Chronic Obstructive pulmonary disease (COPD) and Chronic Kidney Disease (CKD) diseases. The clinical trials contribute in improving the system's accuracy, while Pulmonologists and Nephrologists experts utilized the CHRONIOUS platform to evaluate its efficiency and performance. The results of the utilization of the system were very encouraging. The CHRONIOUS system has been proven to be a well-validated real-time patient monitoring and supervision platform, providing a useful tool for the clinician and the patient that would contribute to the more effective management of chronic diseases.

  20. Specific clinical signs and symptoms are predictive of clinical course in sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Nakatani, E; Kanatani, Y; Kaneda, H; Nagai, Y; Teramukai, S; Nishimura, T; Zhou, B; Kojima, S; Kono, H; Fukushima, M; Kitamoto, T; Mizusawa, H

    2016-09-01

    Akinetic mutism is thought to be an appropriate therapeutic end-point in patients with sporadic Creutzfeldt-Jakob disease (sCJD). However, prognostic factors for akinetic mutism are unclear and clinical signs or symptoms that precede this condition have not been defined. The goal of this study was to identify prognostic factors for akinetic mutism and to clarify the order of clinical sign and symptom development prior to its onset. The cumulative incidence of akinetic mutism and other clinical signs and symptoms was estimated based on Japanese CJD surveillance data (455 cases) collected from 2003 to 2008. A proportional hazards model was used to identify prognostic factors for the time to onset of akinetic mutism and other clinical signs and symptoms. Periodic synchronous discharges on electroencephalography were present in the majority of cases (93.5%). The presence of psychiatric symptoms or cerebellar disturbance at sCJD diagnosis was associated with the development of akinetic mutism [hazard ratio (HR) 1.50, 95% confidence interval (CI) 1.14-1.99, and HR 2.15, 95% CI1.61-2.87, respectively]. The clinical course from cerebellar disturbance to myoclonus or akinetic mutism was classified into three types: (i) direct path, (ii) path via pyramidal or extrapyramidal dysfunction and (iii) path via psychiatric symptoms or visual disturbance. The presence of psychiatric symptoms or cerebellar disturbance increased the risk of akinetic mutism of sCJD cases with probable MM/MV subtypes. Also, there appear to be sequential associations in the development of certain clinical signs and symptoms of this disease. © 2016 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.

  1. Gastroesophageal reflux disease: A clinical overview for primary care physicians.

    Science.gov (United States)

    Pandit, Sudha; Boktor, Moheb; Alexander, Jonathan S; Becker, Felix; Morris, James

    2018-03-01

    GERD is among the most common outpatient disease processes encountered by clinicians on a daily basis. This review provides insights about how to approach GERD in terms of disease management and treatment. Review articles were searched using PUBMED and MEDLINE using criteria that included English language articles published in the last 5 years concerning studies carried out only in humans. The key words used in the searches were GERD, PPI, and erosive esophagitis. Recommendations from the American College of Gastroenterology are also included in this manuscript. The search resulted in ∼260 articles. The manuscript brings together and presents the results of recent recommendations from professional societies and recently published review articles on GERD. GERD is one of the most common diagnoses made by gastroenterologists and primary care physicians. It is important to recognize the typical and atypical presentations of GERD. This paper helps primary care physicians understand the disease's pathophysiology, and when, how, and with what to treat GERD before referring patients to gastroenterologists or surgeons. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. Clinical characteristics of sleep disorders in patients with Parkinson's disease.

    Science.gov (United States)

    Mao, Zhi-Juan; Liu, Chan-Chan; Ji, Su-Qiong; Yang, Qing-Mei; Ye, Hong-Xiang; Han, Hai-Yan; Xue, Zheng

    2017-02-01

    In order to investigate the sleep quality and influencing factors in patients with Parkinson's disease (PD), 201 PD patients were enrolled and underwent extensive clinical evaluations. Subjective sleep evaluation was assessed using the Pittsburgh Sleep Quality Index (PSQI), and the Epworth Sleepiness Scale (ESS). It was found that poor sleep quality (77.11%) and excessive daytime sleepiness (32.34%) were commonly seen in PD patients and positively correlated with disease severity. Then 70 out of the 201 PD patients and 70 age- and sex-matched controls underwent a polysomnographic recording. The parameters were compared between PD group and control group and the influencing factors of sleep in PD patients were analyzed. The results showed that sleep efficiency (SE) was significantly decreased (Psleep latency (SL) and the arousal index (AI) were increased (Psleep time (TST) were positively correlated with the Hoehn and Yahr (H&Y) stage. There was significant difference in the extent of hypopnea and hypoxemia between the PD group and the control group (Psleep quality and a high prevalence of sleep disorder, which may be correlated with the disease severity. Respiratory function and oxygen supply are also affected to a certain degree in PD patients.

  3. Urate predicts rate of clinical decline in Parkinson disease

    Science.gov (United States)

    Ascherio, Alberto; LeWitt, Peter A.; Xu, Kui; Eberly, Shirley; Watts, Arthur; Matson, Wayne R.; Marras, Connie; Kieburtz, Karl; Rudolph, Alice; Bogdanov, Mikhail B.; Schwid, Steven R.; Tennis, Marsha; Tanner, Caroline M.; Beal, M. Flint; Lang, Anthony E.; Oakes, David; Fahn, Stanley; Shoulson, Ira; Schwarzschild, Michael A.

    2009-01-01

    Context The risk of Parkinson disease (PD) and its rate of progression may decline with increasing blood urate, a major antioxidant. Objective To determine whether serum and cerebrospinal fluid (CSF) concentrations of urate predict clinical progression in patients with PD. Design, Setting, and Participants 800 subjects with early PD enrolled in the DATATOP trial. Pre-treatment urate was measured in serum for 774 subjects and in CSF for 713. Main Outcome Measures Treatment-, age- and sex-adjusted hazard ratios (HRs) for clinical disability requiring levodopa therapy, the pre-specified primary endpoint. Results The HR of progressing to endpoint decreased with increasing serum urate (HR for 1 standard deviation increase = 0.82; 95% CI = 0.73 to 0.93). In analyses stratified by α-tocopherol treatment (2,000 IU/day), a decrease in the HR for the primary endpoint was seen only among subjects not treated with α-tocopherol (HR = 0.75; 95% CI = 0.62 to 0.89, versus those treated HR = 0.90; 95% CI = 0.75 to 1.08). Results were similar for the rate of change in the United Parkinson Disease Rating Scale (UPDRS). CSF urate was also inversely related to both the primary endpoint (HR for highest versus lowest quintile = 0.65; 95% CI: 0.54 to 0.96) and to the rate of change in UPDRS. As with serum urate, these associations were present only among subjects not treated with α-tocopherol. Conclusion Higher serum and CSF urate at baseline were associated with slower rates of clinical decline. The findings strengthen the link between urate and PD and the rationale for considering CNS urate elevation as a potential strategy to slow PD progression. PMID:19822770

  4. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

    Science.gov (United States)

    Vega, Ana I; Medrano, Celia; Navarrete, Rosa; Desviat, Lourdes R; Merinero, Begoña; Rodríguez-Pombo, Pilar; Vitoria, Isidro; Ugarte, Magdalena; Pérez-Cerdá, Celia; Pérez, Belen

    2016-10-01

    Glycogen storage disease (GSD) is an umbrella term for a group of genetic disorders that involve the abnormal metabolism of glycogen; to date, 23 types of GSD have been identified. The nonspecific clinical presentation of GSD and the lack of specific biomarkers mean that Sanger sequencing is now widely relied on for making a diagnosis. However, this gene-by-gene sequencing technique is both laborious and costly, which is a consequence of the number of genes to be sequenced and the large size of some genes. This work reports the use of massive parallel sequencing to diagnose patients at our laboratory in Spain using either a customized gene panel (targeted exome sequencing) or the Illumina Clinical-Exome TruSight One Gene Panel (clinical exome sequencing (CES)). Sequence variants were matched against biochemical and clinical hallmarks. Pathogenic mutations were detected in 23 patients. Twenty-two mutations were recognized (mostly loss-of-function mutations), including 11 that were novel in GSD-associated genes. In addition, CES detected five patients with mutations in ALDOB, LIPA, NKX2-5, CPT2, or ANO5. Although these genes are not involved in GSD, they are associated with overlapping phenotypic characteristics such as hepatic, muscular, and cardiac dysfunction. These results show that next-generation sequencing, in combination with the detection of biochemical and clinical hallmarks, provides an accurate, high-throughput means of making genetic diagnoses of GSD and related diseases.Genet Med 18 10, 1037-1043.

  5. Genetic testing in congenital heart disease:A clinical approach

    Institute of Scientific and Technical Information of China (English)

    Marie A Chaix; Gregor Andelfinger; Paul Khairy

    2016-01-01

    Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel.

  6. Genetic testing in congenital heart disease: A clinical approach

    Science.gov (United States)

    Chaix, Marie A; Andelfinger, Gregor; Khairy, Paul

    2016-01-01

    Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient follow-up. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. PMID:26981213

  7. Visual short-term memory deficits in REM sleep behaviour disorder mirror those in Parkinson's disease.

    Science.gov (United States)

    Rolinski, Michal; Zokaei, Nahid; Baig, Fahd; Giehl, Kathrin; Quinnell, Timothy; Zaiwalla, Zenobia; Mackay, Clare E; Husain, Masud; Hu, Michele T M

    2016-01-01

    Individuals with REM sleep behaviour disorder are at significantly higher risk of developing Parkinson's disease. Here we examined visual short-term memory deficits--long associated with Parkinson's disease--in patients with REM sleep behaviour disorder without Parkinson's disease using a novel task that measures recall precision. Visual short-term memory for sequentially presented coloured bars of different orientation was assessed in 21 patients with polysomnography-proven idiopathic REM sleep behaviour disorder, 26 cases with early Parkinson's disease and 26 healthy controls. Three tasks using the same stimuli controlled for attentional filtering ability, sensorimotor and temporal decay factors. Both patients with REM sleep behaviour disorder and Parkinson's disease demonstrated a deficit in visual short-term memory, with recall precision significantly worse than in healthy controls with no deficit observed in any of the control tasks. Importantly, the pattern of memory deficit in both patient groups was specifically explained by an increase in random responses. These results demonstrate that it is possible to detect the signature of memory impairment associated with Parkinson's disease in individuals with REM sleep behaviour disorder, a condition associated with a high risk of developing Parkinson's disease. The pattern of visual short-term memory deficit potentially provides a cognitive marker of 'prodromal' Parkinson's disease that might be useful in tracking disease progression and for disease-modifying intervention trials. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain.

  8. Presentación clínica, diagnóstico y evolución a largo plazo en 29 pacientes con enfermedad de Wilson Clinical presentation, diagnosis, and long-term outcome of 29 patients with Wilson's disease

    Directory of Open Access Journals (Sweden)

    J. L. Rodrigo Agudo

    2008-08-01

    Full Text Available Objetivo: analizar las características clínicas, el tratamiento y evolución de los pacientes diagnosticados de enfermedad de Wilson (EW en la región de Murcia. Pacientes y método: se realizó un análisis retrospectivo de las historias clínicas de los 29 pacientes (edad media ± DE, 20,3 ± 13,4 años con EW diagnosticados en los últimos 16 años. Resultados: el motivo de consulta más frecuente fue el descubrimiento de transaminasas elevadas, en casi la mitad de los pacientes, seguido de temblor o distonía en el 17% respectivamente. El anillo de Kayser-Fleischer se objetivó en 17 de los 29 (58,6% pacientes (100% de los pacientes con afectación neurológica pura y en el 35,3% de los pacientes con clínica hepática pura; p Objective: to analyze the clinical characteristics, treatment, and follow-up of a cohort of 29 patients with Wilson's disease (WD within the region of Murcia. Patients and method: we reviewed the medical records of 29 cases of WD (mean age, 20.3 ± 13.4 years diagnosed during the last 16 years. Results: the most frequent reason for consultation was upon discovering a high transaminase level in almost half the patients, followed by tremors or dystonia in 17% of patients, respectively. A Kayser-Fleischer ring was observed in 17/29 (58.6% of patients (100% of patients with pure neurological involvement and 35% of patients with pure clinical hepatic disease; p < 0.001. Blood copper levels not associated with ceruloplasmin as well as cupruria were notably superior in patients with neurological symptoms and in those with liver cirrhosis at the time of diagnosis. Patient clinical symptoms remained stable with D-penicillamine or trientine, or improved during the observation period, for 18 out of 29 patients (62%, while 11 out of 29 patients (38% got worse. Conclusions: in our region patients with WD are diagnosed at a younger age, and in most cases for hepatic disease. Patients with neurological disease o liver cirrhosis had

  9. Kawasaki disease in Sicily: clinical description and markers of disease severity

    OpenAIRE

    Maggio, M.; Corsello, G.; Prinzi, E.; Cimaz, R.

    2016-01-01

    Background Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. Methods We studied the clinical data ...

  10. Male breast disease: clinical, mammographic, and ultrasonographic features

    International Nuclear Information System (INIS)

    Guenhan-Bilgen, Isil; Bozkaya, Halil; Uestuen, Esin Emin; Memis, Aysenur

    2002-01-01

    Purpose: To describe and quantitate the radiological (mammographic and ultrasonographic) characteristics of male breast disease and to report the clinical and pathological findings. Materials and methods: Two-hundred-thirty-six male patients with different male breast diseases, diagnosed at our institution between January 1990 and July 2001, were retrospectively evaluated. The history, physical examination, mammographic and ultrasonographic findings were analyzed. Results: The spectrum of the disease in 236 male patients were gynecomastia (n=206), primary breast carcinoma (n=14), fat necrosis (n=5), lipoma (n=3), subareolar abscess (n=2), epidermal inclusion cyst (n=1), sebaceous cyst (n=1), hematoma (n=1), myeloma (n=1), and metastatic carcinoma (n=2). The distribution of patterns of gynecomastia were; 34% (n=71) nodular, 35% (n=73) dendritic and 31% (n=62) diffuse glandular. Gynecomastia was unilateral in 55% (n=113) and bilateral in 45% (n=93) of the patients. Male breast cancer presented as a mass without microcalcifications in 86% (n=12) and with microcalcifications in 7% (n=1) of patients. The mass was obscured by gynecomastia, partially in two, totally in one patient. The location of the mass was retroareolar in 46% (n=6) and eccentric to the nipple in 54% (n=7) of patients. On ultrasonography (US), the contours were well-circumscribed in 20% (n=3) and irregular in 80% (n=12) of the masses. Conclusion: Male breast has a wide spectrum of diseases, some of which have characteristic radiological appearances that can be correlated with their pathologic diagnosis. In the evaluation of the male breast, mammography and US are essential and should be performed along with physical examination

  11. Male breast disease: clinical, mammographic, and ultrasonographic features

    Energy Technology Data Exchange (ETDEWEB)

    Guenhan-Bilgen, Isil E-mail: isilbilgen@hotmail.com; Bozkaya, Halil; Uestuen, Esin Emin; Memis, Aysenur

    2002-09-01

    Purpose: To describe and quantitate the radiological (mammographic and ultrasonographic) characteristics of male breast disease and to report the clinical and pathological findings. Materials and methods: Two-hundred-thirty-six male patients with different male breast diseases, diagnosed at our institution between January 1990 and July 2001, were retrospectively evaluated. The history, physical examination, mammographic and ultrasonographic findings were analyzed. Results: The spectrum of the disease in 236 male patients were gynecomastia (n=206), primary breast carcinoma (n=14), fat necrosis (n=5), lipoma (n=3), subareolar abscess (n=2), epidermal inclusion cyst (n=1), sebaceous cyst (n=1), hematoma (n=1), myeloma (n=1), and metastatic carcinoma (n=2). The distribution of patterns of gynecomastia were; 34% (n=71) nodular, 35% (n=73) dendritic and 31% (n=62) diffuse glandular. Gynecomastia was unilateral in 55% (n=113) and bilateral in 45% (n=93) of the patients. Male breast cancer presented as a mass without microcalcifications in 86% (n=12) and with microcalcifications in 7% (n=1) of patients. The mass was obscured by gynecomastia, partially in two, totally in one patient. The location of the mass was retroareolar in 46% (n=6) and eccentric to the nipple in 54% (n=7) of patients. On ultrasonography (US), the contours were well-circumscribed in 20% (n=3) and irregular in 80% (n=12) of the masses. Conclusion: Male breast has a wide spectrum of diseases, some of which have characteristic radiological appearances that can be correlated with their pathologic diagnosis. In the evaluation of the male breast, mammography and US are essential and should be performed along with physical examination.

  12. Homeopathy in paediatric atopic diseases: long-term results in children with atopic dermatitis.

    Science.gov (United States)

    Rossi, Elio; Bartoli, Paola; Bianchi, Alba; Da Frè, Monica

    2012-01-01

    To study the socio-demographic features, the prescribed remedies and the outcome of atopic diseases in children treated with homeopathy at the Homeopathic Clinic of Lucca (Italy), and the long-term outcome of children suffering from atopic dermatitis (AD) after an approximate 8-year period (range 5-10 years). Our data derive from an observational longitudinal study carried out on 213 children (38.6%) with atopic diseases out of 551 children consecutively examined from September 1998 to December 2008. We used the Glasgow Homeopathic Hospital Outcome Score to evaluate the results that were classified on the basis of a Likert scale. Eighty-three (39%) children were affected by asthma, 51 (24%) by allergic rhinoconjunctivitis, 76 (36%) by AD and 3 (1%) by food intolerance. Follow-up patients were 104 (48.8%), and 65 (62.5%) of them reported a major improvement or resolution. The parents of paediatric patients suffering from AD, who had started homeopathic treatment at homeopathy in atopic children. Furthermore, according to the data from the literature paediatric patients treated with homeopathy seem to show a reduced tendency to maintain AD and develop asthma (and allergic rhinitis) in adult age. Copyright © 2011 The Faculty of Homeopathy. Published by Elsevier Ltd. All rights reserved.

  13. Short- and long-term response to corticosteroid therapy in chronic beryllium disease.

    Science.gov (United States)

    Marchand-Adam, S; El Khatib, A; Guillon, F; Brauner, M W; Lamberto, C; Lepage, V; Naccache, J-M; Valeyre, D

    2008-09-01

    Chronic beryllium disease (CBD) is a granulomatous disorder that affects the lung after exposure to beryllium. The present study reports short- and long-term evolution of granulomatous and fibrotic components in eight patients with severe CBD receiving corticosteroid therapy. Eight patients with confirmed CBD were studied at baseline, after initial corticosteroid treatment (4-12 months), at relapse and at the final visit. Beryllium exposure, Glu(69) (HLA-DPB1 genes coding for glutamate at position beta69) polymorphism, symptoms, pulmonary function tests (PFT), serum angiotensin-converting enzyme (SACE) and high-resolution computed tomography (HRCT) quantification of pulmonary lesions were analysed. The CBD patients were observed for a median (range) of 69 (20-180) months. After stopping beryllium exposure, corticosteroids improved symptoms and PFT (vital capacity +26%, diffusing capacity of the lung for carbon monoxide +15%), and decreased SACE level and active lesion HRCT score. In total, 18 clinical relapses occurred after the treatment was tapered and these were associated with SACE and active lesion HRCT score impairment. At the final visit, corticosteroids had completely stabilised all parameters including both HRCT scores of active lesions and fibrotic lesions in six out of eight patients. Corticosteroids were beneficial in chronic beryllium disease. They were effective in suppressing granulomatosis lesions in all cases and in stopping the evolution to pulmonary fibrosis in six out of eight patients.

  14. Pattern of breast diseases: preliminary report of breast clinic

    International Nuclear Information System (INIS)

    Siddiqui, K.; Rasool, I.

    2001-01-01

    Objective: To find out the pattern of breast disease in this part of the county and create public awareness about breast diseases especially cancer. Design: Ac cross sectional and cohort study. Place and Duration of Study: The study was conducted at Department of Surgery, Jinnah Hospital /Allama Iqbal Medical College, Lahore from March 1999 to July 2000. Subjects and Methods: All the female patients reported were included in this study. They were diagnosed by history, physical examination and rel event investigations like ultrasonography, mammography, FNAS and biopsy. Appropriate medical and surgical management was carried out. The breast cancer was treated according to TNA staging system by multidisciplinary approach. Method of breast self examination (BSE) was taught with the help of charts and brochures. Results: The age ranged from 10 years to 75 years. Maximum number of patients (30%) was seen between 20-29 years of age while 15 (1%) cases did not suffer from any disease. Among 1485 patients the common conditions were non cyclical mastalgia in 362 (24.37%), fibroadenoma in 289 (19.46%), fibrocystic disease in 276(17.98%) breast abscess in 149 (10%) and breast cancer (6.19%). Other diseases were puberty mastitis 49(3.2%), galactocele 40(2.69%), accessory breast 45(3%) and nipple discharge 28(1.88%). Among the palpable lumps, breast caner accounted for 11.75%. The commonest age of presentation of breast cancer was 5th decade (31%) followed by 4th decade (26%). Majority of cancer patients (45%) presented in stage III. All the women with beast abscesses were lactating. Non cyclical mastalgia was commonly seen in 4th decade (30.66%) while 44.63% patients of fibroadenoma reported in the 2nd decade. Fibrocystic disease was reported between 3rd and 4th decade (62.17%). Conclusion: Commonest being conditions were non cyclical mastalgia followed by fibroadenoma while breast cancer contributed a significant percentage of palpable lumps. Due to effective public awareness

  15. Clinical evaluation of guidelines and two-test approach for lyme disease

    NARCIS (Netherlands)

    Blaauw, A. A.; van Loon, A. M.; Schellekens, J. F.; Bijlsma, J. W.

    1999-01-01

    The diagnosis of Lyme disease should be based on objective clinical signs and symptoms. In a clinical study, we have evaluated whether the recommended two-step approach for serodiagnosis of Lyme disease is useful in daily clinical practice and can influence clinical decision making. The signs and

  16. Long-Term Health of Dopaminergic Neuron Transplants in Parkinson's Disease Patients

    Directory of Open Access Journals (Sweden)

    Penelope J. Hallett

    2014-06-01

    Full Text Available To determine the long-term health and function of transplanted dopamine neurons in Parkinson’s disease (PD patients, the expression of dopamine transporters (DATs and mitochondrial morphology were examined in human fetal midbrain cellular transplants. DAT was robustly expressed in transplanted dopamine neuron terminals in the reinnervated host putamen and caudate for at least 14 years after transplantation. The transplanted dopamine neurons showed a healthy and nonatrophied morphology at all time points. Labeling of the mitochondrial outer membrane protein Tom20 and α-synuclein showed a typical cellular pathology in the patients’ own substantia nigra, which was not observed in transplanted dopamine neurons. These results show that the vast majority of transplanted neurons remain healthy for the long term in PD patients, consistent with clinical findings that fetal dopamine neuron transplants maintain function for up to 15–18 years in patients. These findings are critically important for the rational development of stem-cell-based dopamine neuronal replacement therapies for PD.

  17. Chronic fatigue syndrome after Giardia enteritis: clinical characteristics, disability and long-term sickness absence

    Directory of Open Access Journals (Sweden)

    Naess Halvor

    2012-02-01

    Full Text Available Abstract Background A waterborne outbreak of Giardia lamblia gastroenteritis led to a high prevalance of long-lasting fatigue and abdominal symptoms. The aim was to describe the clinical characteristics, disability and employmentloss in a case series of patients with Chronic Fatigue Syndrome (CFS after the infection. Methods Patients who reported persistent fatigue, lowered functional capacity and sickness leave or delayed education after a large community outbreak of giardiasis enteritis in the city of Bergen, Norway were evaluated with the established Centers for Disease Control and Prevention criteria for CFS. Fatigue was self-rated by the Fatigue Severity Scale (FSS. Physical and mental health status and functional impairment was measured by the Medical Outcome Severity Scale-short Form-36 (SF-36. The Hospital Anxiety and Depression Scale (HADS was used to measure co-morbid anxiety and depression. Inability to work or study because of fatigue was determined by sickness absence certified by a doctor. Results A total of 58 (60% out of 96 patients with long-lasting post-infectious fatigue after laboratory confirmed giardiasis were diagnosed with CFS. In all, 1262 patients had laboratory confirmed giardiasis. At the time of referral (mean illness duration 2.7 years 16% reported improvement, 28% reported no change, and 57% reported progressive course with gradual worsening. Mean FSS score was 6.6. A distinctive pattern of impairment was documented with the SF-36. The physical functioning, vitality (energy/fatigue and social functioning were especially reduced. Long-term sickness absence from studies and work was noted in all patients. Conclusion After giardiasis enteritis at least 5% developed clinical characteristics and functional impairment comparable to previously described post-infectious fatigue syndrome.

  18. Disease activity indices in coeliac disease: systematic review and recommendations for clinical trials.

    Science.gov (United States)

    Hindryckx, Pieter; Levesque, Barrett G; Holvoet, Tom; Durand, Serina; Tang, Ceen-Ming; Parker, Claire; Khanna, Reena; Shackelton, Lisa M; D'Haens, Geert; Sandborn, William J; Feagan, Brian G; Lebwohl, Benjamin; Leffler, Daniel A; Jairath, Vipul

    2018-01-01

    Although several pharmacological agents have emerged as potential adjunctive therapies to a gluten-free diet for coeliac disease, there is currently no widely accepted measure of disease activity used in clinical trials. We conducted a systematic review of coeliac disease activity indices to evaluate their operating properties and potential as outcome measures in registration trials. MEDLINE, EMBASE and the Cochrane central library were searched from 1966 to 2015 for eligible studies in adult and/or paediatric patients with coeliac disease that included coeliac disease activity markers in their outcome measures. The operating characteristics of histological indices, patient-reported outcomes (PROs) and endoscopic indices were evaluated for content and construct validity, reliability, responsiveness and feasibility using guidelines proposed by the US Food and Drug Administration (FDA). Of 19 123 citations, 286 studies were eligible, including 24 randomised-controlled trials. Three of five PROs identified met most key evaluative criteria but only the Celiac Disease Symptom Diary (CDSD) and the Celiac Disease Patient-Reported Outcome (CeD PRO) have been approved by the FDA. All histological and endoscopic scores identified lacked content validity. Quantitative morphometric histological analysis had better reliability and responsiveness compared with qualitative scales. Endoscopic indices were infrequently used, and only one index demonstrated responsiveness to effective therapy. Current best evidence suggests that the CDSD and the CeD PRO are appropriate for use in the definition of primary end points in coeliac disease registration trials. Morphometric histology should be included as a key secondary or co-primary end point. Further work is needed to optimise end point configuration to inform efficient drug development. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  19. Clinical outcome of stand-alone ALIF compared to posterior instrumentation for degenerative disc disease

    DEFF Research Database (Denmark)

    Udby, Peter M.; Bech-Azeddine, Rachid

    2015-01-01

    The objective of the article was to: a) present results from a case cohort pilot study comparing stand-alone ALIF and TLIF and, b) review the literature on studies comparing the clinical outcome of stand-alone ALIF with posterior instrumentation including TLIF or PLIF, in patients with disabling...... low back pain resulting from degenerative disc disease. ALIF surgery has previously been linked with certain high risk complications and unfavorable long term fusion results. Newer studies suggest that stand-alone ALIF can possibly be advantageous compared to other types of posterior instrumented...

  20. Clinical implications of shared genetics and pathogenesis in autoimmune diseases

    NARCIS (Netherlands)

    Zhernakova, Alexandra; Withoff, Sebo; Wijmenga, Cisca

    2013-01-01

    Many endocrine diseases, including type 1 diabetes mellitus, Graves disease, Addison disease and Hashimoto disease, originate as an autoimmune reaction that affects disease-specific target organs. These autoimmune diseases are characterized by the development of specific autoantibodies and by the

  1. Impulse control disorders in Parkinson's disease: clinical characteristics and implications.

    Science.gov (United States)

    Leeman, Robert F; Potenza, Marc N

    2011-04-01

    Impulse control disorders (ICDs), specifically those related to excessive gambling, eating, sex and shopping, have been observed in a subset of people with Parkinson's disease (PD). Although some initial case reports claimed that dopamine replacement therapies, particularly dopamine agonists, cause ICDs, more recent, larger and better controlled studies indicate a more complicated picture. While dopamine replacement therapy use is related to ICDs, other vulnerabilities, some related to PD and/or its treatment directly and others seemingly unrelated to PD, have also been associated with ICDs in PD. This suggests a complex etiology with multiple contributing factors. As ICDs occur in a sizable minority of PD patients and can be associated with significant distress and impairment, further investigation is needed to identify factors that can predict who may be more likely to develop ICDs. Clinical implications are discussed and topics for future research are offered.

  2. A Rare Clinical Presentation of Darier’s Disease

    Directory of Open Access Journals (Sweden)

    Mybera Ferizi

    2013-01-01

    Full Text Available Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae.

  3. Clinical experience with adalimumab in a multicenter Swiss cohort of patients with Crohn's disease.

    Science.gov (United States)

    Nichita, Cristina; Stelle, Marc; Vavricka, Stephan; El-Wafa Ali, Abdou; Ballabeni, Pierluigi; de Saussure, Philippe; Straumann, Alex; Rogler, Gerhard; Michetti, Pierre

    2010-01-01

    Controlled clinical trials have demonstrated the efficacy and safety of adalimumab in patients with moderate-to-severe Crohn's disease (CD), but there is, however, only limited long-term experience with adalimumab in daily practice. To assess the long-term effectiveness and safety of adalimumab in a multicenter cohort of practice-based patients with moderate-to-severe CD. We retrospectively reviewed the charts of CD patients who received adalimumab over a 3-year period. Disease severity was scored using the Harvey-Bradshaw index (HBI). Remission was defined as an HBI of 3 points at evaluation compared to the baseline. Univariate logistic regression analysis was used to identify the predictive variables associated with response. The charts of 55 patients were reviewed; remission and response rates observed at weeks 4-6 were 52.7 and 83.6%, respectively. Remission was maintained at weeks 12, 24 and 52 in 89.6, 72.4 and 44.7% of patients, respectively. Remission and response rates were not influenced by smoking status, disease location or duration, the first month total dose, or previous infliximab therapy. The remission rate at weeks 4-6 was significantly higher in patients intolerant of infliximab as compared to those who lost response to this drug. Adalimumab was well tolerated overall. Adalimumab can be considered a suitable option in patients with moderate-to-severe CD, demonstrating sustained long-term effectiveness. Copyright (c) 2010 S. Karger AG, Basel.

  4. Short term outcome of posterior dynamic stabilization system in degenerative lumbar diseases

    Directory of Open Access Journals (Sweden)

    Mingyuan Yang

    2014-01-01

    Conclusion: Dynamic stabilization system treating lumbar degenerative disease showed clinical benefits with motion preservation of the operated segments, but does not have the significant advantage on motion preservation at adjacent segments, to avoid the degeneration of adjacent intervertebral disk.

  5. Long-term survival in patients hospitalized for chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Gudmundsson, Gunnar; Ulrik, Charlotte Suppli; Gislason, Thorarinn

    2012-01-01

    Mortality rate is high in patients with chronic obstructive pulmonary disease (COPD). Our aim was to investigate long-term mortality and associated risk factors in COPD patients previously hospitalized for a COPD exacerbation.......Mortality rate is high in patients with chronic obstructive pulmonary disease (COPD). Our aim was to investigate long-term mortality and associated risk factors in COPD patients previously hospitalized for a COPD exacerbation....

  6. Long Term Follow-up of Ventilated Patients with Thoracic Restriction and Neuromuscular Disease

    Directory of Open Access Journals (Sweden)

    Dina Brooks

    2002-01-01

    Full Text Available OBJECTIVE: To evaluate the long term effects of home mechanical ventilation (HMV on pulmonary function, nighttime gas exchange, daytime arterial blood gases, sleep architecture and functional exercise capacity (6 min walk. Patients with respiratory failure attributable to thoracic restrictive disease (TRD (kyphoscoliosis or neuromuscular disease (NMD were assessed, ventilated, trained and followed in a dedicated unit for the care of patients requiring long term ventilation.

  7. Juvenile myasthenia gravis in Norway: Clinical characteristics, treatment, and long-term outcome in a nationwide population-based cohort.

    Science.gov (United States)

    Popperud, T H; Boldingh, M I; Rasmussen, M; Kerty, E

    2017-09-01

    This study aimed to characterize juvenile myasthenia gravis in a national population-based cohort in Norway, and to evaluate long-term outcome and potential differences correlated with prepubertal versus postpubertal disease onset. Patients with onset of myasthenia gravis aged ≤18 years were identified through multiple strategies. Retrospective clinical data were collected by means of medical charts. All patients had an updated clinical examination. Cases were divided into prepubertal and postpubertal onset using age 12 years as the cut off. In total, 75 patients were identified of whom 63 were included in the study: 21 in the prepubertal and 42 in the postpubertal onset group. There was a female preponderance in both groups. In total, 59% presented with ocular symptoms, but the great majority of patients in both groups generalized during the two first years of the disease. Myasthenic crisis was more frequent in the prepubertal onset group. All patients were initially treated with pyridostigmine, 26 with steroids, and 17 with other immunosuppressive treatment. The postpubertal cases were more often treated with immunosuppressive therapy. Fifty patients (79%) underwent thymectomy. The general outcome was favourable: 57% became asymptomatic and only four subjects failed to attain clinical improvement. One-third had at least one additional autoimmune disease. Despite frequent symptom generalization and a subgroup of prepubertal onset with severe disease, the long-term outcome was good, especially in the thymectomized prepubertal onset group. Polyautoimmunity occurred in both groups in one-third. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  8. Clinical characteristics and psychosocial impact of different reflux time in gastroesophageal reflux disease patients.

    Science.gov (United States)

    Chen, Jiann-Hwa; Wen, Shu-Hui; Hsu, Ching-Sheng; Yi, Chih-Hsun; Liu, Tso-Tsai; Chen, Chien-Lin; Wang, Chia-Chi

    2017-02-01

    Gastroesophageal reflux disease (GERD) is an emerging disease, and can impair quality of life and sleep. This study aimed to investigate whether GERD patients with different timings of reflux symptoms have different clinical characteristics. This study prospectively enrolled individuals who underwent upper gastrointestinal endoscopy during a health checkup. Each participant completed all questionnaires including Reflux Disease Questionnaire, Nighttime GERD questionnaire, Pittsburg Sleep Quality Index, Taiwanese Depression Questionnaire, and State-Trait Anxiety Inventory. Combined reflux was defined as the timing of reflux symptoms occurring at both daytime and nighttime. A total of 2604 participants were enrolled. Of them, 651 symptomatic GERD patients, according to the Reflux Disease Questionnaire score, were recruited for final analysis. Of them, 224 (34.4%) had erosive esophagitis on endoscopy. According to the timing of reflux symptoms, 184 (28.3%) were assigned to the daytime reflux group, 71 (10.9%) to the nighttime reflux group, and 396 (60.8%) to the combined reflux group. In post hoc analysis, the combined reflux group had a significantly higher Reflux Disease Questionnaire score than the daytime reflux group (p reflux groups had higher body mass index and longer duration (> 12 years) of education than the daytime reflux group (p reflux of have more troublesome symptoms than those with daytime reflux. GERD patients with different timings of reflux symptoms have different clinical characteristics in terms of body mass index and duration of education, but not in terms of esophageal inflammation, quality of sleep, and psychosocial status. Copyright © 2016. Published by Elsevier B.V.

  9. Description of Common Clinical Presentations and Associated Short-Term Physical Therapy Clinical Outcomes in Patients With Neck Pain.

    Science.gov (United States)

    Horn, Maggie E; Brennan, Gerard P; George, Steven Z; Harman, Jeffrey S; Bishop, Mark D

    2015-10-01

    To determine the effect of clinical presentations of neck pain on short-term physical therapy outcomes. Retrospective analysis of pair-matched groups from a clinical cohort. Thirteen outpatient physical therapy clinics in 1 health care system. Patients (N=1069) grouped by common clinical presentations of neck pain: nonspecific neck pain (NSNP) with duration 4 weeks; neck pain with arm pain; neck pain with headache; and neck pain from whiplash. Conservative interventions provided by physical therapists. Neck Disability Index (NDI) and numerical pain rating scale (NPRS) recorded at the initial and last visits. The main outcome of interest was achieving recovery status on the NDI. Changes in NDI and NPRS were compared between clinical presentation groups. Compared with patients presenting with NSNP >4 weeks, patients with NSNP neck pain and arm pain demonstrated an increased odds of achieving recovery status on the NDI (P=.04) compared with patients presenting with NSNP >4 weeks. Treating patients with NSNP within <4 weeks of onset of symptoms may lead to improved clinical outcomes from physical therapy compared with other common clinical presentations. Copyright © 2015 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  10. The clinical experience of interventional embolization in treatment of graves disease

    International Nuclear Information System (INIS)

    Di Zhenhai; Wang Xiaochuan; Liu Longtu; Wang Xiuhua; Wang Zubin

    2002-01-01

    Objective: To evaluate the method and result of thyroid artery embolization as a new therapy for Graves disease. Methods: Ten patients with Graves disease underwent selective thyroid artery embolization. Totally 25 thyroid arteries were embolized with PVA microspheres. The indications to this therapy were as following: Graves disease with recurrent clinical symptoms or with leucopenia during the period of treating with administration of antithyroid drugs or recurrence after subtotal thyroidectomy. Results: Serum level of thyroid hormones dropped significantly [median FT 3 from 20.90 pmol/L (13.36-50.92 pmol/L) to 7.81 pmol/L (3.67-35.3 pmol/L), median FT 4 from 57.9 pmol/L (30.96-57.9 pmol/L) to 28.13 pmol/L (20.44-39.60 pmol/L), (P < 0.005)] and then followed-up for 5-8 months. The symptoms of hyperthyroidism were controlled in 7 patients and the remaining 3 cases were treated with lower dosage of antithyroid drug therapy. None serious complications were found. Conclusions: thyroid artery embolization represents a promising new method for treating Graves disease with safety and good clinical results. Further investigation would be required to assess its long-term effect

  11. Dopaminergic and clinical correlates of pathological gambling in Parkinson's disease

    DEFF Research Database (Denmark)

    Callesen, Mette Buhl; Hansen, K V; Gjedde, A

    2013-01-01

    Dopaminergic medication for motor symptoms in Parkinson's disease (PD) recently has been linked with impulse control disorders, including pathological gambling (PG), which affects up to 8% of patients. PG often is considered a behavioral addiction associated with disinhibition, risky decision-mak...... decision-making. Overall, the findings are consistent with the hypothesis of medication-related PG in PD and underscore the importance of taking clinical variables, such as age and personality, into account when patients with PD are medicated, to reduce the risk of PG.......Dopaminergic medication for motor symptoms in Parkinson's disease (PD) recently has been linked with impulse control disorders, including pathological gambling (PG), which affects up to 8% of patients. PG often is considered a behavioral addiction associated with disinhibition, risky decision-making......, and altered striatal dopaminergic neurotransmission. Using [(11)C]raclopride with positron emission tomography, we assessed dopaminergic neurotransmission during Iowa Gambling Task performance. Here we present data from a single patient with PD and concomitant PG. We noted a marked decrease in [(11)C...

  12. Potential and clinical utility of stem cells in cardiovascular disease

    Directory of Open Access Journals (Sweden)

    Korff Krause

    2010-03-01

    Full Text Available Korff Krause, Carsten Schneider, Kai Jaquet, Karl-Heinz KuckHanseatic Heart Center Hamburg, Department of Cardiology, Asklepios Hospital St. Georg, Hamburg, GermanyAbstract: The recent identification of bone marrow-derived adult stem cells and other types of stem cells that could improve heart function after transplantation have raised high expectations. The basic mechanisms have been studied mostly in murine models. However, these experiments revealed controversial results on transdifferentiation vs transfusion of adult stem cells vs paracrine effects of these cells, which is still being debated. Moreover, the reproducibility of these results in precisely translated large animal models is still less well investigated. Despite these weaknesses results of several clinical trials including several hundreds of patients with ischemic heart disease have been published. However, there are no solid data showing that any of these approaches can regenerate human myocardium. Even the effectiveness of cell therapy in these approaches is doubtful. In future we need in this important field of regenerative medicine: i more experimental data in large animals that are closer to the anatomy and physiology of humans, including data on dose effects, comparison of different cell types and different delivery routes; ii a better understanding of the molecular mechanisms involved in the fate of transplanted cells; iii more intensive research on genuine regenerative medicine, applying genetic regulation and cell engineering.Keywords: stem cells, cardiovascular disease

  13. Graves' disease: cost-effectiveness of clinical and radioiodine treatments

    International Nuclear Information System (INIS)

    Cruz junior, Antonio F.; Takahashi, Miriam H.; Albino, Claudio C.

    2005-01-01

    Full text: In this study, we set out to evaluate the costs and effectiveness of the two most used therapies in Graves' disease: antithyroid drugs (ATD) and radioiodine (RAI). Twenty-tree patients, 7 men and 16 women, with a mean age of 35.4 years, treated with ATD and 35 patients, 5 men and 30 women, mean age of 39.4 years, treated with RAI were studied. After 2 years receiving ATD, 21 patients achieved euthyroidism and 2 remained hyperthyroid. In the RAI group, 21 patients presented hypothyroidism and 13 became euthyroid. To calculate the costs of each therapy, we analysed the number of visits during this period, the laboratory data and the drugs needed, such as tiamazol and/or thyroxine. The group treated only with ATD needed a higher number of visits and laboratory measurements, with the mean total cost of U$ 791.65, while the RAI group spent a mean amount of U$ 366.44. Therefore, the costs of the RAI treatment were 53,7 % lower than clinical therapy with ATD. Conclusion: The present study demonstrates that RAI treatment has a lower cost than ATD, being very effective in controlling the hyperthyroidism of Graves' disease. (author)

  14. Clinical Applications of Mesenchymal Stem Cells in Chronic Diseases

    Directory of Open Access Journals (Sweden)

    Andrea Farini

    2014-01-01

    Full Text Available Extraordinary progress in understanding several key features of stem cells has been made in the last ten years, including definition of the niche, and identification of signals regulating mobilization and homing as well as partial understanding of the mechanisms controlling self-renewal, commitment, and differentiation. This progress produced invaluable tools for the development of rational cell therapy protocols that have yielded positive results in preclinical models of genetic and acquired diseases and, in several cases, have entered clinical experimentation with positive outcome. Adult mesenchymal stem cells (MSCs are nonhematopoietic cells with multilineage potential to differentiate into various tissues of mesodermal origin. They can be isolated from bone marrow and other tissues and have the capacity to extensively proliferate in vitro. Moreover, MSCs have also been shown to produce anti-inflammatory molecules which can modulate humoral and cellular immune responses. Considering their regenerative potential and immunoregulatory effect, MSC therapy is a promising tool in the treatment of degenerative, inflammatory, and autoimmune diseases. It is obvious that much work remains to be done to increase our knowledge of the mechanisms regulating development, homeostasis, and tissue repair and thus to provide new tools to implement the efficacy of cell therapy trials.

  15. The Clinical and Immunologic Features of Patients With Combined Anti-GBM Disease and Castleman Disease.

    Science.gov (United States)

    Gu, Qiu-Hua; Jia, Xiao-Yu; Hu, Shui-Yi; Wang, Su-Xia; Zou, Wan-Zhong; Cui, Zhao; Zhao, Ming-Hui

    2018-06-01

    Patients with both anti-glomerular basement membrane (anti-GBM) disease and Castleman disease have been rarely reported. In this study, we report 3 patients with this combination. They had immunologic features similar to patients with classic anti-GBM disease. Sera from the 3 patients recognized the noncollagenous (NC) domain of the α3 chain of type IV collagen (α3(IV)NC1) and its 2 major epitopes, EA and EB. All 4 immunogloblin G (IgG) subclasses against α3(IV)NC1 were detectable, with predominance of IgG1. In one patient with lymph node biopsy specimens available, sporadic plasma cells producing α3(IV)NC1-IgG were found, suggesting a causal relationship between the 2 diseases. One patient, who achieved remission with antibody clearance and normalization of serum creatinine and interleukin 6 concentrations after plasma exchange and 3 cycles of chemotherapy, experienced recurrence of anti-GBM antibodies and an increase in interleukin 6 concentration after chemotherapy discontinuation because of adverse effects, but both returned to normal after another cycle of chemotherapy. This clinical course and the pathologic findings support the hypothesis that the Castleman disease-associated tumor cells are the source of the anti-GBM autoantibodies. Copyright © 2018 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  16. Clinical Holistic Medicine: The Patient with Multiple Diseases

    Directory of Open Access Journals (Sweden)

    Søren Ventegodt

    2005-01-01

    Full Text Available In clinical practice, patients can present with many different diseases, often both somatic and mental. Holistic medicine will try to see the diseases as a whole, as symptoms of a more fundamental imbalance in the state of being. The holistic physician must help the patient to recover existence and a good relationship with self. According to the life mission theory, theory of character, and holistic process theory of healing, recovering the purpose of life (the life mission is essential for the patient to regain life, love, and trust in order to find happiness and realize the true purpose of life. We illustrate the power of the holistic medical approach with a case study of an invalidated female artist, aged 42 years, who suffered from multiple severe health problems, many of which had been chronic for years. She had a combination of neurological disturbances (tinnitus, migraine, minor hallucinations, immunological disturbances (recurrent herpes simplex, phlegm in the throat, fungal infection in the crotch, hormonal disturbances (14 days of menstruation in each cycle, muscle disturbances (neck tensions, mental disturbances (tendency to cry, inferiority feeling, mild depression, desolation, anxiety, abdominal complaints, hemorrhoids, and more. The treatment was a combined strategy of improving the general quality of life, recovering her human character and purpose of life (“renewing the patients life energy”, “balancing her global information system”, and processing the local blockages, thus healing most of her many different diseases in a treatment using 30 h of intense holistic therapy over a period of 18 months.

  17. Clinical aspects of impulsive compulsive behaviours in Parkinson's disease.

    Science.gov (United States)

    Djamshidian, Atbin; Averbeck, Bruno B; Lees, Andrew J; O'Sullivan, Sean S

    2011-11-15

    Impulsive-compulsive behaviours (ICBs) are an increasingly well-recognised adverse-effect of dopaminergic medications used to treat Parkinson's disease. ICBs include pathological gambling, compulsive sexual behaviour, compulsive buying, and binge eating, together with punding and the addiction-like compulsive use of dopamine replacement therapy, or dopamine dysregulation syndrome. The prevalence of ICBs was approximately 14% in a large study undertaken in specialist movement disorder clinics. Dopamine dysregulation syndrome is more associated with compulsive l-dopa use, whereas other ICBs are more linked with oral dopamine agonist use. Other mechanisms implicated in the development and perpetuation of ICBs in PD include aberrant learning from reward-related situations, including decreased learning from negative feedback, increased measures of impulsivity or sensation seeking, and strong preference for immediate over future rewards. Treatment options for impulsive-compulsive behaviours include pharmacological, surgical and psychological interventions. The early recognition and prevention of ICBs, coupled with awareness of clinical risk factors for the development of these behaviours is of paramount importance, given the lack of specific treatments for these sometimes debilitating behaviours. Copyright © 2011 Elsevier B.V. All rights reserved.

  18. Controlled clinical trial of cannabidiol in Huntington's disease.

    Science.gov (United States)

    Consroe, P; Laguna, J; Allender, J; Snider, S; Stern, L; Sandyk, R; Kennedy, K; Schram, K

    1991-11-01

    Based on encouraging preliminary findings, cannabidiol (CBD), a major nonpsychotropic constituent of Cannabis, was evaluated for symptomatic efficacy and safety in 15 neuroleptic-free patients with Huntington's Disease (HD). The effects of oral CBD (10 mg/kg/day for 6 weeks) and placebo (sesame oil for 6 weeks) were ascertained weekly under a double-blind, randomized cross-over design. A comparison of the effects of CBD and placebo on chorea severity and other therapeutic outcome variables, and on a Cannabis side effect inventory, clinical lab tests and other safety outcome variables, indicated no significant (p greater than 0.05) or clinically important differences. Correspondingly, plasma levels of CBD were assayed by GC/MS, and the weekly levels (mean range of 5.9 to 11.2 ng/ml) did not differ significantly over the 6 weeks of CBD administration. In summary, CBD, at an average daily dose of about 700 mg/day for 6 weeks, was neither symptomatically effective nor toxic, relative to placebo, in neuroleptic-free patients with HD.

  19. Idiopathic granulomatous mastitis: a heterogeneous disease with variable clinical presentation.

    Science.gov (United States)

    Baslaim, Muna M; Khayat, Hind A; Al-Amoudi, Shefaa A

    2007-08-01

    Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast disease that presents with variable local manifestations. We describe here the different management protocols based on the clinical presentation of these patients. A retrospective review of 20 histopathologic confirmed cases of IGM seen over a period of 10 years was performed. The median age was 34 years (age range: 21-45 years). All were married, parous with history of breast feeding. Ill-defined mass mimicking carcinoma was the commonest presentation (70%); however, with the presence of signs of inflammation like pain (55%), redness (40%), and peau d'orange (40%), an inflammatory process appeared more likely. Axillary lymph node enlargement was infrequently seen (40%). Radiologic findings (mammography and ultrasound) were nonspecific. Histopathology showed the characteristic lobular distribution of granulomatous inflammation in all cases. Surgically, 7 patients had abscess drainage with open biopsy, and 7 patients had lumpectomy. Six patients with diffuse breast involvement were diagnosed by core needle biopsy only. Microbial cultures showed no growth. Antibiotics were given empirically when signs of inflammation where present. Two patients needed further abscess drainage followed by persistent sinus excision 3-6 weeks later. The median follow-up was 24 months (range: 15-42 months). Seventeen patients (85%) were recurrence-free, and 3 patients (15%) were lost to follow-up. Management of IGM cases needs to be tailored according to the clinical presentation. Precise radiologic and pathologic data interpretation by a multidisciplinary breast team will facilitate diagnosis and minimize unnecessary intervention.

  20. Sarcoidosis in Israel: Clinical Outcome Status, Organ Involvement, and Long-Term Follow-Up.

    Science.gov (United States)

    Markevitz, Natalia; Epstein Shochet, Gali; Levi, Yair; Israeli-Shani, Lilach; Shitrit, David

    2017-08-01

    Sarcoidosis is a chronic granulomatous inflammatory disease of unknown etiology with heterogeneous outcomes. This study reviewed the clinical outcome status (COS) and organ involvement of Israeli sarcoidosis patients during a five-year period. Further, we compared our results to the 'World Association of Sarcoidosis and Other Granulomatous Disease' (WASOG) COS and the 'A Case Control Etiologic Study of Sarcoidosis' (ACCESS) instruments in order to evaluate their relevance to the Israeli population. The retrospective study group consisted of 166 sarcoidosis patients for the period of 2010-2015. Data on demographic characteristics, presenting symptoms, co-morbidities, disease duration, lung function tests, treatment program, chest X-ray, and chest high-resolution computed tomography were collected. The median patient age was 62 ± 14, which was significantly higher than the WASOG and ACCESS cohorts (p Israel is a unique and challenging disease with its clinical presentations that differ from previously reported studies.

  1. Understanding complex clinical reasoning in infectious diseases for improving clinical decision support design.

    Science.gov (United States)

    Islam, Roosan; Weir, Charlene R; Jones, Makoto; Del Fiol, Guilherme; Samore, Matthew H

    2015-11-30

    Clinical experts' cognitive mechanisms for managing complexity have implications for the design of future innovative healthcare systems. The purpose of the study is to examine the constituents of decision complexity and explore the cognitive strategies clinicians use to control and adapt to their information environment. We used Cognitive Task Analysis (CTA) methods to interview 10 Infectious Disease (ID) experts at the University of Utah and Salt Lake City Veterans Administration Medical Center. Participants were asked to recall a complex, critical and vivid antibiotic-prescribing incident using the Critical Decision Method (CDM), a type of Cognitive Task Analysis (CTA). Using the four iterations of the Critical Decision Method, questions were posed to fully explore the incident, focusing in depth on the clinical components underlying the complexity. Probes were included to assess cognitive and decision strategies used by participants. The following three themes emerged as the constituents of decision complexity experienced by the Infectious Diseases experts: 1) the overall clinical picture does not match the pattern, 2) a lack of comprehension of the situation and 3) dealing with social and emotional pressures such as fear and anxiety. All these factors contribute to decision complexity. These factors almost always occurred together, creating unexpected events and uncertainty in clinical reasoning. Five themes emerged in the analyses of how experts deal with the complexity. Expert clinicians frequently used 1) watchful waiting instead of over- prescribing antibiotics, engaged in 2) theory of mind to project and simulate other practitioners' perspectives, reduced very complex cases into simple 3) heuristics, employed 4) anticipatory thinking to plan and re-plan events and consulted with peers to share knowledge, solicit opinions and 5) seek help on patient cases. The cognitive strategies to deal with decision complexity found in this study have important

  2. Rationale and clinical data supporting nutritional intervention in Alzheimer's disease.

    Science.gov (United States)

    Engelborghs, S; Gilles, C; Ivanoiu, A; Vandewoude, M

    2014-01-01

    Adequate nutrition plays an important role in the maintenance of cognitive function, particularly during aging. Malnutrition is amongst the risk factors for developing mild cognitive impairment (MCI) and Alzheimer's disease (AD). Epidemiological studies have associated deficiencies in some nutrients with a higher risk of cognitive dysfunction and/or AD. Cognitive decline in AD is correlated with synaptic loss and many of the components required to maintain optimal synaptic function are derived from dietary sources. As synapses are part of the neuronal membrane and are continuously being remodelled, the availability of sufficient levels of nutritional precursors (mainly uridine monophosphate, choline and omega-3 fatty acids) to make the phospholipids required to build neuronal membranes may have beneficial effects on synaptic degeneration in AD. In addition, B-vitamins, phospholipids and other micronutrients act as cofactors to enhance the supply of precursors required to make neuronal membranes and synapses. Despite this, no randomized controlled trial has hitherto provided evidence that any single nutrient has a beneficial effect on cognition or lowers the risk for AD. However, a multi-target approach using combinations of (micro)nutrients might have beneficial effects on cognitive function in neurodegenerative brain disorders like AD leading to synaptic degeneration. Here we review the clinical evidence for supplementation, based on a multi-target approach with a focus on key nutrients with a proposed role in synaptic dysfunction. Based on preclinical evidence, a nutrient mixture, Souvenaid(®) (Nutricia N.V., Zoetermeer, The Netherlands) was developed. Clinical trials with Souvenaid(®) have shown improved memory performance in patients with mild AD. Further clinical trials to evaluate the effects of nutritional intervention in MCI and early dementia due to AD are on-going.

  3. Quality of life in patients after long-term biochemical cure of cushing's disease

    NARCIS (Netherlands)

    M.O. van Aken (Maarten); A.M. Pereira (Alberto); N.R. Biermasz; S.W. van Thiel (Sjoerd); H. Hoftijzer (Hendrieke); J.W.A. Smit (Jan); F. Roelfsema (Ferdinand); S.W.J. Lamberts (Steven); J.A. Romijn (Johannes)

    2005-01-01

    textabstractTo evaluate the long-term impact of cured Cushing's disease on subjective well-being, we assessed quality of life by validated health-related questionnaires in 58 patients cured from Cushing's disease by transsphenoidal surgery (n = 58), some of whom received additional radiotherapy (n =

  4. Quality of life in patients after long-term biochemical cure of Cushing's disease

    NARCIS (Netherlands)

    van Aken, M. O.; Pereira, A. M.; Biermasz, N. R.; van Thiel, S. W.; Hoftijzer, H. C.; Smit, J. W. A.; Roelfsema, F.; Lamberts, S. W. J.; Romijn, J. A.

    2005-01-01

    To evaluate the long-term impact of cured Cushing's disease on subjective well-being, we assessed quality of life by validated health-related questionnaires in 58 patients cured from Cushing's disease by transsphenoidal surgery (n = 58), some of whom received additional radiotherapy (n = 11) and/or

  5. A systematic literature review of evidence-based clinical practice for rare diseases

    DEFF Research Database (Denmark)

    Rath, Ana; Salamon, Valérie; Peixoto, Sandra

    2017-01-01

    diseases comprise the difficulty to recruit participants because of rarity, scattering of patients, limited knowledge on natural history of diseases, difficulties to achieve accurate diagnosis and identify patients in health information systems, and difficulties choosing clinically relevant outcomes....... CONCLUSIONS: Evidence-based clinical practice for rare diseases should start by collecting clinical data in databases and registries; defining measurable patient-centred outcomes; and selecting appropriate study designs adapted to small study populations. Rare diseases constitute one of the most paradigmatic...

  6. Infectious Diseases in Older Adults of Long-Term Care Facilities: Update on Approach to Diagnosis and Management.

    Science.gov (United States)

    Jump, Robin L P; Crnich, Christopher J; Mody, Lona; Bradley, Suzanne F; Nicolle, Lindsay E; Yoshikawa, Thomas T

    2018-04-01

    The diagnosis, treatment, and prevention of infectious diseases in older adults in long-term care facilities (LTCFs), particularly nursing facilities, remains a challenge for all health providers who care for this population. This review provides updated information on the currently most important challenges of infectious diseases in LTCFs. With the increasing prescribing of antibiotics in older adults, particularly in LTCFs, the topic of antibiotic stewardship is presented in this review. Following this discussion, salient points on clinical relevance, clinical presentation, diagnostic approach, therapy, and prevention are discussed for skin and soft tissue infections, infectious diarrhea (Clostridium difficile and norovirus infections), bacterial pneumonia, and urinary tract infection, as well as some of the newer approaches to preventive interventions in the LTCF setting. © 2018, Copyright the Authors Journal compilation © 2018, The American Geriatrics Society.

  7. Role of clinical questionnaires in optimizing everyday care of chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Jones PW

    2011-05-01

    Full Text Available Paul W Jones1, David Price2, Thys van der Molen31Cardiac and Vascular Medicine, St George’s, University of London, UK; 2Centre of Academic Primary Care, University of Aberdeen, UK; 3Department of General Practice, University Medical Center Groningen, The NetherlandsAbstract: Chronic obstructive pulmonary disease (COPD is a leading cause of disability in all its stages, and death in patients with moderate or severe obstruction. At present, COPD is suboptimally managed; current health is often not measured properly and hardly taken into account in management plans, and the future risk for patients with regard to health status and quality of life is not being evaluated. This review addresses the effect of COPD on the lives of patients and examines ways in which existing assessment tools meet physicians’ needs for a standardized, simple method to measure consistently the full impact of COPD on patients in routine clinical practice. Current assessment of COPD severity tends to focus on airflow limitation, but this does not capture the full impact of the disease and is not well correlated with patient perception of symptoms and health-related quality of life. Qualitative studies have demonstrated that patients usually consider COPD impact in terms of frequency and severity of symptoms, and physical and emotional wellbeing. However, patients often have difficulty expressing their disease burden and physicians generally have insufficient time to collect this information. Therefore, it is important that methods are implemented to help generate a more complete understanding of the impact of COPD. This can be achieved most efficiently using a quick, reliable, and standardized measure of disease impact, such as a short questionnaire that can be applied in daily clinical practice. Questionnaires are precision instruments that contribute sensitive and specific information, and can potentially help physicians provide optimal care for patients with COPD

  8. Glycogen storage disease type I: clinical and laboratory profile

    Directory of Open Access Journals (Sweden)

    Berenice L. Santos

    2014-11-01

    Full Text Available Objectives: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. Methods: This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. Results: Twenty-one patients were included (median age 10 years, range 1–25 years, all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1–132 months, and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008. Conclusions: Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients. Resumo: Objetivos: Caracterizar o perfil clínico, laboratorial e antropométrico de uma amostra de pacientes brasileiros com doença de depósito de glicogênio tipo I tratados em um ambulatório de referência para erros inatos do metabolismo. Métodos: Este foi um estudo ambulatorial transversal com base em uma estratégia de amostragem de conveniência. Foram avaliados os dados com relação ao diagnóstico, tratamento, parâmetros antropométricos e acompanhamento. Resultados: Foram incluídos 21 pacientes (idade média de 10 anos, faixa 1-25 anos de idade, e todos se encontravam em terapia de amido de milho cru. A idade média na época do diagn

  9. AMERICAN COLLEGE OF GASTROENTEROLOGY CLINICAL GUIDELINE: DIAGNOSIS AND MANAGEMENT OF CELIAC DISEASE

    Science.gov (United States)

    Rubio-Tapia, Alberto; Hill, Ivor D; Kelly, Ciarán P; Calderwood, Audrey H; Murray, Joseph A

    2013-01-01

    This guideline presents recommendations for the diagnosis and management of patients with celiac disease. Celiac disease is an immune-based reaction to dietary gluten (storage protein for wheat, barley and rye) that primarily affects the small intestine in those with a genetic predisposition and resolves with exclusion of gluten from the diet. There has been a substantial increase in the prevalence of celiac disease over the last 50 years and an increase in the rate of diagnosis in the last 10 years. Celiac disease can present with many symptoms, including typical gastrointestinal symptoms (e.g. diarrhea, steatorrhea, weight loss, bloating, flatulence, abdominal pain) and also non-gastrointestinal abnormalities (e.g. abnormal liver function tests, iron deficiency anemia, bone disease, skin disorders, and many other protean manifestations). Indeed, many individuals with celiac disease may have no symptoms at all. Celiac disease is usually detected by serologic testing of celiac-specific antibodies. The diagnosis is confirmed by duodenal mucosal biopsies. Both serology and biopsy should be performed on a gluten-containing diet. The treatment for celiac disease is primarily a gluten-free diet (GFD), which requires significant patient education, motivation, and follow-up. Non-responsive celiac disease occurs frequently, particularly in those diagnosed in adulthood. Persistent or recurring symptoms should lead to a review of the patient’s original diagnosis to exclude alternative diagnoses, a review of the GFD to ensure there is no obvious gluten contamination, and serologic testing to confirm adherence with the GFD. In addition, evaluation for disorders associated with celiac disease that could cause persistent symptoms, such as microscopic colitis, pancreatic exocrine dysfunction, and complications of celiac disease, such as enteropathy-associated lymphoma or refractory celiac disease, should be entertained. Newer therapeutic modalities are being studied in clinical

  10. A comparison of the long-term durability of nevirapine, efavirenz and lopinavir in routine clinical practice in Europe: a EuroSIDA study

    DEFF Research Database (Denmark)

    Reekie, J; Reiss, P; Ledergerber, B

    2011-01-01

    The durability of combination antiretroviral therapy (cART) regimens can be measured as time to discontinuation because of toxicity or treatment failure, development of clinical disease or serious long-term adverse events. The aim of this analysis was to compare the durability of nevirapine, efav...

  11. Current Standards of Care and Long Term Outcomes for Thalassemia and Sickle Cell Disease.

    Science.gov (United States)

    Chonat, Satheesh; Quinn, Charles T

    2017-01-01

    Thalassemia and sickle cell disease (SCD) are disorders of hemoglobin that affect millions of people worldwide. The carrier states for these diseases arose as common, balanced polymorphisms during human history because they afforded protection against severe forms of malaria. These complex, multisystem diseases are reviewed here with a focus on current standards of clinical management and recent research findings. The importance of a comprehensive, multidisciplinary and lifelong system of care is also emphasized.

  12. The antiplatelet effects of nitrates: is it of clinical significance in patients with cardiovascular disease?

    Science.gov (United States)

    Zhou, Rui-Hai; Frishman, William H

    2010-01-01

    Organic nitrates have been used for over a century in cardiovascular therapy and are still widely used in the treatment of acute coronary syndromes, chronic angina pectoris, and congestive heart failure. Nitrates, together with sodium nitroprusside, generally referred to as nitrovasodilators, exert their biologic effects via the release of nitric oxide. They are also known as nitric oxide donors. The mechanism of action of these drugs is traditionally believed to lie in their arterial vasodilation and venodilation effects, resulting in an improvement of coronary artery blood supply and/or reduction of cardiac workload in the treatment of coronary artery disease and congestive heart failure. Recently it has been recognized that these drugs also have intrinsic antiplatelet and antithrombotic effects, demonstrated both in vitro and in vivo, which would add further rationale for the use of these drugs in atherothrombotic diseases. Research has shown that nitrovasodilators can nonselectively inhibit platelet aggregation induced by multiple stimuli. However, clinical trials have yielded conflicting results regarding clinical outcome, especially with long-term nitrate use. The potentially beneficial effects of nitrates could be negated by the development of tolerance and the generation of deleterious oxidative stress causing endothelial dysfunction during continuous nitrate administration. Much progress has been made in the development of new nitric oxide donors devoid of oxidant-generating properties. Novel combination therapies with nitrovasodilators plus antioxidants or agents with antioxidant properties have shown promise in reducing or reversing tolerance, potentiating antiplatelet effects, and improving clinical outcome. It is expected that clinical introduction of novel nitrovasodilator regimens will provide a new approach to the prevention and treatment of atherothrombotic diseases. Large-scale clinical trials will ultimately provide the evidence-based answers.

  13. The metabolic syndrome: validity and utility of clinical definitions for cardiovascular disease and diabetes risk prediction.

    Science.gov (United States)

    Cameron, Adrian

    2010-02-01

    The purpose of clinical definitions of the metabolic syndrome is frequently misunderstood. While the metabolic syndrome as a physiological process describes a clustering of numerous age-related metabolic abnormalities that together increase the risk for cardiovascular disease and type 2 diabetes, clinical definitions include obesity which is thought to be a cause rather than a consequence of metabolic disturbance, and several elements that are routinely measured in clinical practice, including high blood pressure, high blood glucose and dyslipidaemia. Obesity is frequently a central player in the development of the metabolic syndrome and should be considered a key component of clinical definitions. Previous clinical definitions have differed in the priority given to obesity. Perhaps more importantly than its role in a clinical definition, however, is obesity in isolation before the hallmarks of metabolic dysfunction that typify the syndrome have developed. This should be treated seriously as an opportunity to prevent the consequences of the global diabetes epidemic now apparent. Clinical definitions were designed to identify a population at high lifetime CVD and type 2 diabetes risk, but in the absence of several major risk factors for each condition, are not optimal risk prediction devices for either. Despite this, the metabolic syndrome has several properties that make it a useful construct, in conjunction with short-term risk prediction algorithms and sound clinical judgement, for the identification of those at high lifetime risk of CVD and diabetes. A recently published consensus definition provides some much needed clarity about what a clinical definition entails. Even this, however, remains a work in progress until more evidence becomes available, particularly in the area of ethnicity-specific waist cut-points. Copyright 2009 Elsevier Ireland Ltd. All rights reserved.

  14. Effect of Probiotics on Serum Bilirubin Level in Term Neonates with Jaundice; A Randomized Clinical Trial

    OpenAIRE

    Yadollah Zahed Pasha; Mousa Ahmadpour-kacho; Abes Ahmadi Jazi; Hemmat Gholinia

    2017-01-01

    Background In recent years, tendency to use drugs has been increasing in the treatment of neonatal jaundice. Several drugs have been used since then, but the effect of probiotics on serum bilirubin level (SBL) is not so clear. This study was conducted to evaluate the effect of probiotics on SBL and the duration of phototherapy in term neonates with hyperbilirubinemia. Materials and Methods: In this randomized clinical trial, we studied 150 term neonate with jaundice hospitalized for photother...

  15. Clinical Utility of Serologic Testing for Celiac Disease in Asymptomatic Patients

    Science.gov (United States)

    2011-01-01

    were 5 cohort studies, 2 prospective and 3 retrospective. The two prospective studies did not show an increased risk of all-cause mortality in subjects with asymptomatic celiac disease. Grading of Evidence The quality of the evidence for each serologic tests evaluated based on the GRADE Working Group criteria. Overall, the quality of the evidence ranged from low to very low depending on the outcome evaluated. The Clinical Utility of Serologic Testing for Celiac Disease in Asymptomatic Subjects Eligible studies that evaluated the effects of a GFD on disease-specific outcomes were only identified for two of the conditions evaluated, type 1 diabetes and idiopathic short stature. The clinical utility of serologic testing for celiac disease in patients with type 1 diabetes without symptoms consistent with celiac disease was not demonstrated since the studies identified did not provide evidence of the impact of the GFD on either metabolic control or long-term outcomes in these patients. The clinical utility of serologic testing for celiac disease in patients with idiopathic short stature without symptoms consistent with celiac disease was demonstrated since the studies identified showed an acceleration in growth once the diagnosis of celiac disease was made and a GFD was introduced. The Budget Impact of Serologic Testing for Celiac Disease in Asymptomatic Patients The budget impact of serologic testing for celiac disease in asymptomatic patients was calculated for the conditions for which clinical utility for serologic testing was demonstrated. The budget impact in patients with idiopathic short stature without symptoms consistent with celiac disease was estimated as C$552,000 as calculated by multiplying the number of individuals in Ontario with idiopathic short stature that may be eligible for the test by the cost of the serologic test for celiac disease. Conclusions Based on a review of the literature, there is an increased risk of asymptomatic celiac disease in patients

  16. Noise Maps for Quantitative and Clinical Severity Towards Long-Term ECG Monitoring.

    Science.gov (United States)

    Everss-Villalba, Estrella; Melgarejo-Meseguer, Francisco Manuel; Blanco-Velasco, Manuel; Gimeno-Blanes, Francisco Javier; Sala-Pla, Salvador; Rojo-Álvarez, José Luis; García-Alberola, Arcadi

    2017-10-25

    Noise and artifacts are inherent contaminating components and are particularly present in Holter electrocardiogram (ECG) monitoring. The presence of noise is even more significant in long-term monitoring (LTM) recordings, as these are collected for several days in patients following their daily activities; hence, strong artifact components can temporarily impair the clinical measurements from the LTM recordings. Traditionally, the noise presence has been dealt with as a problem of non-desirable component removal by means of several quantitative signal metrics such as the signal-to-noise ratio (SNR), but current systems do not provide any information about the true impact of noise on the ECG clinical evaluation. As a first step towards an alternative to classical approaches, this work assesses the ECG quality under the assumption that an ECG has good quality when it is clinically interpretable. Therefore, our hypotheses are that it is possible (a) to create a clinical severity score for the effect of the noise on the ECG, (b) to characterize its consistency in terms of its temporal and statistical distribution, and (c) to use it for signal quality evaluation in LTM scenarios. For this purpose, a database of external event recorder (EER) signals is assembled and labeled from a clinical point of view for its use as the gold standard of noise severity categorization. These devices are assumed to capture those signal segments more prone to be corrupted with noise during long-term periods. Then, the ECG noise is characterized through the comparison of these clinical severity criteria with conventional quantitative metrics taken from traditional noise-removal approaches, and noise maps are proposed as a novel representation tool to achieve this comparison. Our results showed that neither of the benchmarked quantitative noise measurement criteria represent an accurate enough estimation of the clinical severity of the noise. A case study of long-term ECG is reported

  17. Factors governing long-term adherence to a gluten-free diet in adult patients with coeliac disease.

    Science.gov (United States)

    Villafuerte-Galvez, J; Vanga, R R; Dennis, M; Hansen, J; Leffler, D A; Kelly, C P; Mukherjee, R

    2015-09-01

    A strict gluten-free diet is the cornerstone of treatment for coeliac disease. Studies of gluten-free diet adherence have rarely used validated instruments. There is a paucity of data on long-term adherence to the gluten-free diet in the adult population. To determine the long-term adherence to the gluten-free diet and potential associated factors in a large coeliac disease referral centre population. We performed a mailed survey of adults with clinically, serologically and histologically confirmed coeliac disease diagnosed ≥5 years prior to survey. The previously validated Celiac Disease Adherence Test was used to determine adherence. Demographic, socio-economic and potentially associated factors were analysed with adherence as the outcome. The response rate was 50.1% of 709 surveyed, the mean time on a gluten-free diet 9.9 ± 6.4 years. Adequate adherence (celiac disease adherence test score 75% of respondents. Perceived cost remains a barrier to adherence. Perceptions of effectiveness of gluten-free diet as well as its knowledge, are potential areas for intervention. © 2015 John Wiley & Sons Ltd.

  18. Minimal residual disease in breast cancer. Clinical significance

    International Nuclear Information System (INIS)

    Kvalheim, G.

    2004-01-01

    Previously we have reported our results on minimal residual disease in breast cancer. Briefly, B M-aspirates were collected from 817 patients at primary surgery. Tumor cells in B M were detected by immunocytochemistry using anticytokeratin-antibodies (A E1/ A E3). Analyses of the primary tumor included histological grading, vascular invasion and immunohistochemical detection of cerbB2, cathepsin D, p53 and ER/PgRexpression. These analyses were compared to clinical outcome. Median follow-up was 49 months. ITC were detected in 13.2% of the patients. The detection rate rose with increasing tumor size (p=0.011) and lymph node involvement (p<0.001). Systemic relapse and death from breast cancer occurred in 31.7% and 26.9% of the B M-positive versus 13.7% and 10.9% of B M-negative patients, respectively (p<0.001). Analyzing node-positive and node-negative patients separately, ITC-positivity was associated with poor prognosis in the node-positive group and in node-negative patients not receiving adjuvant therapy (T1N0). In multivariate analysis, ITC in B M was an independent prognostic factor together with N-, T-, ER/Pg R-status, histological grade and vascular invasion. Combination of several independent prognostic factors can classify subgroups of patients into excellent and high-risk prognosis groups. Like other groups we have investigated the clinical role of monitoring minimal residual disease before and after adjuvant therapy in breast cancer. One hundred and eighteen high risk stage II breast cancer patients entering the Scandinavian Study Group multicenter trial were randomized to 9 cycles of dose escalated and tailored FEC (5-flurouracil, epirubicin, cyclophosphamide) or standard FEC followed by high dose chemotherapy. B M samples at diagnosis and 6 months after completion of chemotherapy were assessed for the presence of I CT. Median observation time for patients was 68 months. ITC positivity in bone marrow was evaluated as a prognostic and predictive marker and

  19. A rule-based electronic phenotyping algorithm for detecting clinically relevant cardiovascular disease cases.

    Science.gov (United States)

    Esteban, Santiago; Rodríguez Tablado, Manuel; Ricci, Ricardo Ignacio; Terrasa, Sergio; Kopitowski, Karin

    2017-07-14

    The implementation of electronic medical records (EMR) is becoming increasingly common. Error and data loss reduction, patient-care efficiency increase, decision-making assistance and facilitation of event surveillance, are some of the many processes that EMRs help improve. In addition, they show a lot of promise in terms of data collection to facilitate observational epidemiological studies and their use for this purpose has increased significantly over the recent years. Even though the quantity and availability of the data are clearly improved thanks to EMRs, still, the problem of the quality of the data remains. This is especially important when attempting to determine if an event has actually occurred or not. We sought to assess the sensitivity, specificity, and agreement level of a codes-based algorithm for the detection of clinically relevant cardiovascular (CaVD) and cerebrovascular (CeVD) disease cases, using data from EMRs. Three family physicians from the research group selected clinically relevant CaVD and CeVD terms from the international classification of primary care, Second Edition (ICPC-2), the ICD 10 version 2015 and SNOMED-CT 2015 Edition. These terms included both signs, symptoms, diagnoses and procedures associated with CaVD and CeVD. Terms not related to symptoms, signs, diagnoses or procedures of CaVD or CeVD and also those describing incidental findings without clinical relevance were excluded. The algorithm yielded a positive result if the patient had at least one of the selected terms in their medical records, as long as it was not recorded as an error. Else, if no terms were found, the patient was classified as negative. This algorithm was applied to a randomly selected sample of the active patients within the hospital's HMO by 1/1/2005 that were 40-79 years old, had at least one year of seniority in the HMO and at least one clinical encounter. Thus, patients were classified into four groups: (1) Negative patients (2) Patients with Ca

  20. Symptomatic radiation-induced cardiac disease in long-term survivors of esophageal cancer

    Energy Technology Data Exchange (ETDEWEB)

    Iwahashi, Noriaki; Kosuge, Masami; Kimura, Kazuo [Division of Cardiology, Yokohama City University Medical Center, Yokohama (Japan); Sakamaki, Kentaro [Department of Biostatistics, Yokohama City University Medical Center, Yokohama (Japan); Kunisaki, Chikara [Department of Surgery, Gastroenterological Center, Yokohama City University Medical Center, Yokohama (Japan); Ogino, Ichiro; Watanabe, Shigenobu

    2016-06-15

    To evaluate clinical and dosimetric factors retrospectively affecting the risk of symptomatic cardiac disease (SCD) in esophageal cancer patients treated with radiotherapy. A total of 343 patients with newly diagnosed esophageal cancer were managed with concurrent chemoradiotherapy or radiotherapy alone. Of these, 58 patients were followed at our hospital for at least 4 years. Median clinical follow-up was 79 months. Cardiac toxicity was determined by Common Terminology Criteria for Adverse Events (CTCAE) v. 4.0. The maximum and mean doses to the heart and percentage of the volume were calculated from the dose-volume histograms. SCD manifested in 11 patients. The heart diseases included three pericardial effusions, one pericardial effusion with valvular disease and paroxysmal atrial tachycardia, three atrial fibrillations, one sinus tachycardia, one coronary artery disease, one chest pain with strongly suspected coronary artery disease, and one congestive heart failure. The actual incidence of SCD was 13.8 % at 5 years. Univariate and multivariate analyses of continuous variables revealed that the risk of developing an SCD depended on the volume of the heart receiving a dose greater than 45 Gy (V45), 50 Gy (V50), and 55 Gy (V55). No other clinical factors were found to influence the risk of SCD. For V45, V50, and V55, the lowest significant cutoff values were 15, 10, and 5 %, respectively. High-dose and large-volume irradiation of the heart increased the risk of SCD in long-term survivors. Using modern radiotherapy techniques, it is important to minimize the heart dose-volume parameters without reducing the tumor dose. (orig.) [German] Beurteilung von klinischen und dosimetrischen Faktoren, die mit Risiken eines retrospektiven Auftretens von symptomatischen Herzerkrankungen (SCD) bei Patienten zusammenhaengen, die aufgrund eines Oesophaguskarzinoms strahlentherapeutisch behandelt wurden. Insgesamt 343 Patienten mit neu diagnostiziertem Oesophaguskarzinom wurden mit

  1. Clinical application of MR susceptibility weighted imaging in cerebrovascular diseases

    International Nuclear Information System (INIS)

    Zhu Wenzhen; Qi Jianpin; Shen Hao; Wang Chengyuan; Xia Liming; Hu Junwu; Feng Dingyi

    2007-01-01

    Objective: To assess clinical application value of susceptibility weighted imaging (SWI) in cerebrovascular diseases. Method: Twenty-three patients with cerebrovascular disease were investigated, including 7 cases of cavernoma, 4 of venous hemangioma, 3 of small AVM, 1 of Sturge-Weber Syndrome, 2 of cerebral venous sinus thrombosis and 6 of chronic cerebral infarction. All patients underwent standard Mill and SWI, and most of them also underwent enhanced T 1 WI and MRA. The corrected phase (CP) values were obtained at the lesions and control areas. Results: The average CP values of the lesions and the control areas were -0.112±0.032 and -0.013±0.004, respectively (t=2.167, P 2 WI. The cavemoma could be differentiated from the hemorrhage within lesions. Moreover, multiple microcavernomas were detected on SWI. In 4 cases of venous hemangioma, SWI detected spider-like lesions with more hair-thin pulp veins adjacent to the dilated draining vein than contrast MRI. In 3 cases of small AVM, SWI was more advantageous than MRA in clearly detecting the small feeding artery. In 1 case of Sturge-Weber Syndrome, SWI demonstrated large areas of calcification and the abnormal vessels on the cerebral surface and the deep part of the cerebrum at the same time. In 2 cases of cerebral venous sinus thrombosis, the deep draining veins and superficial venous rete were generally dilated and winding, and the hemorrhagic lesions could be detected earlier than conventional MR images in one case. In 6 eases of cerebral infarction, old hemorrhage was clearly displayed within the lesions. Conclusion: SWI has more predominant advantages than conventional MRI and MRA in detecting the low-flow cerebral vascular malformations, identifying microbleeds and cerebral infarction accompanying hemorrhage, and the dilation of cerebral deep or superficial veins in patients with cerebral venous sinus thrombosis. Moreover, SWI can show the phase contrast between the lesions and the control areas. (authors)

  2. Management of Long-Term Complications of HIV Disease: Focus on Cardiovascular Disease.

    Science.gov (United States)

    Currier, Judith S

    2018-04-01

    HIV-infected individuals on effective antiretroviral therapy experience a number of non-AIDS noncommunicable diseases, such as cardiovascular disease, more frequently than uninfected individuals. Common pathways for such diseases are chronic immune activation and inflammation, including the prolonged inflammation associated with lower nadir CD4+ cell count. Prevention and treatment of non-AIDS conditions include treatment of traditional risk factors, lifestyle interventions, earlier initiation of antiretroviral therapy, and potentially therapies specifically targeting inflammation and immune activation (eg, statins). This article summarizes a presentation by Judith S. Currier, MD, at the IAS-USA continuing education program, Improving the Management of HIV Disease, held in New York, New York, in February 2017.

  3. 77 FR 59930 - Clinical Development Programs for Disease-Modifying Agents for Peripheral Neuropathy; Public...

    Science.gov (United States)

    2012-10-01

    ...] Clinical Development Programs for Disease-Modifying Agents for Peripheral Neuropathy; Public Workshop... to the clinical development of disease-modifying agents for the treatment of peripheral neuropathy... disease-modifying products for the management of peripheral neuropathy. Date and Time: The public workshop...

  4. Variability of CSF Alzheimer's disease biomarkers: implications for clinical practice.

    Directory of Open Access Journals (Sweden)

    Stephanie J B Vos

    Full Text Available BACKGROUND: Cerebrospinal fluid (CSF biomarkers are increasingly being used for diagnosis of Alzheimer's disease (AD. OBJECTIVE: We investigated the influence of CSF intralaboratory and interlaboratory variability on diagnostic CSF-based AD classification of subjects and identified causes of this variation. METHODS: We measured CSF amyloid-β (Aβ 1-42, total tau (t-tau, and phosphorylated tau (p-tau by INNOTEST enzyme-linked-immunosorbent assays (ELISA in a memory clinic population (n = 126. Samples were measured twice in a single or two laboratories that served as reference labs for CSF analyses in the Netherlands. Predefined cut-offs were used to classify CSF biomarkers as normal or abnormal/AD pattern. RESULTS: CSF intralaboratory variability was higher for Aβ1-42 than for t-tau and p-tau. Reanalysis led to a change in biomarker classification (normal vs. abnormal of 26% of the subjects based on Aβ1-42, 10% based on t-tau, and 29% based on p-tau. The changes in absolute biomarker concentrations were paralleled by a similar change in levels of internal control samples between different assay lots. CSF interlaboratory variability was higher for p-tau than for Aβ1-42 and t-tau, and reanalysis led to a change in biomarker classification of 12% of the subjects based on Aβ1-42, 1% based on t-tau, and 22% based on p-tau. CONCLUSIONS: Intralaboratory and interlaboratory CSF variability frequently led to change in diagnostic CSF-based AD classification for Aβ1-42 and p-tau. Lot-to-lot variation was a major cause of intralaboratory variability. This will have implications for the use of these biomarkers in clinical practice.

  5. Cardiovascular Disease and 10-Year Mortality in Postmenopausal Women with Clinical Features of Polycystic Ovary Syndrome.

    Science.gov (United States)

    Merz, C Noel Bairey; Shaw, Leslee J; Azziz, Ricardo; Stanczyk, Frank Z; Sopko, George; Braunstein, Glenn D; Kelsey, Sheryl F; Kip, Kevin E; Cooper-DeHoff, Rhonda M; Johnson, B Delia; Vaccarino, Viola; Reis, Steven E; Bittner, Vera; Hodgson, T Keta; Rogers, William; Pepine, Carl J

    2016-09-01

    Women with polycystic ovary syndrome (PCOS) have greater cardiac risk factor clustering but the link with mortality is incompletely described. To evaluate outcomes in 295 postmenopausal women enrolled in the National Institutes of Health-National Heart, Lung, and Blood Institute (NIH-NHLBI) sponsored Women's Ischemia Syndrome Evaluation (WISE) study according to clinical features of PCOS. A total of 25/295 (8%) women had clinical features of PCOS defined by a premenopausal history of irregular menses and current biochemical evidence of hyperandrogenemia, defined as the top quartile of androstenedione (≥701 pg/mL), testosterone (≥30.9 ng/dL), or free testosterone (≥4.5 pg/mL). Cox proportional hazard model estimated death (n = 80). Women with clinical features of PCOS had an earlier menopause (p = 0.01), were more often smokers (p PCOS (n = 270) (p = 0.85). PCOS was not a significant predictor (p = NS) in prognostic models including diabetes, waist circumference, hypertension, and angiographic CAD. From this longer-term follow up of a relatively small cohort of postmenopausal women with suspected ischemia, the prevalence of PCOS is similar to the general population, and clinical features of PCOS are not associated with CAD or mortality. These findings question whether identification of clinical features of PCOS in postmenopausal women who already have known cardiovascular disease provides any additional opportunity for risk factor intervention.

  6. Moyamoya disease and syndromes: from genetics to clinical management

    Directory of Open Access Journals (Sweden)

    Guey S

    2015-02-01

    Full Text Available Stéphanie Guey,1,3 Elisabeth Tournier-Lasserve,1,2 Dominique Hervé,1,3 Manoelle Kossorotoff4 1Inserm UMR-S1161, Université Paris 7 Denis Diderot, Sorbonne Paris Cité, Paris, France; 2AP-HP, Groupe hospitalier Lariboisière-Saint-Louis, Service de génétique neurovasculaire, Paris, France; 3Service de Neurologie, Centre de Référence des maladies Vasculaires Rares du Cerveau et de l'Œil (CERVCO, Groupe Hospitalier Saint-Louis Lariboisière-Fernand Widal, Assistance Publique-Hôpitaux de Paris, Paris, France; 4Pediatric Neurology Department, French Center for Pediatric Stroke, University Hospital Necker-Enfants Malades, AP-HP Assistance publique-Hôpitaux de Paris, Paris, France Abstract: Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI, magnetic resonance angiography (MRA conventional angiography, and cerebral hemodynamics measurements

  7. Plasma HIV-1 tropism and risk of short-term clinical progression to AIDS or death

    DEFF Research Database (Denmark)

    Fontdevila, Maria Casadellà; Cozzi-Lepri, Alessandro; Phillips, Andrew

    2014-01-01

    INTRODUCTION: It is uncertain if plasma HIV-1 tropism is an independent predictor of short-term risk of clinical progression / death, in addition to the CD4 count and HIV RNA level. We conducted a nested case-control study within EuroSIDA to assess this question amongst people with current HIV RNA...

  8. Long-Term Clinical Outcome of Internal Globus Pallidus Deep Brain Stimulation for Dystonia.

    Directory of Open Access Journals (Sweden)

    Hye Ran Park

    Full Text Available GPi (Internal globus pallidus DBS (deep brain stimulation is recognized as a safe, reliable, reversible and adjustable treatment in patients with medically refractory dystonia.This report describes the long-term clinical outcome of 36 patients implanted with GPi DBS at the Neurosurgery Department of Seoul National University Hospital.Nine patients with a known genetic cause, 12 patients with acquired dystonia, and 15 patients with isolated dystonia without a known genetic cause were included. When categorized by phenomenology, 29 patients had generalized, 5 patients had segmental, and 2 patients had multifocal dystonia. Patients were assessed preoperatively and at defined follow-up examinations postoperatively, using the Burke-Fahn-Marsden dystonia rating scale (BFMDRS for movement and functional disability assessment. The mean follow-up duration was 47 months (range, 12-84.The mean movement scores significantly decreased from 44.88 points preoperatively to 26.45 points at 60-month follow up (N = 19, P = 0.006. The mean disability score was also decreased over time, from 11.54 points preoperatively to 8.26 points at 60-month follow up, despite no statistical significance (N = 19, P = 0.073. When analyzed the movement and disability improvement rates at 12-month follow up point, no significant difference was noted according to etiology, disease duration, age at surgery, age of onset, and phenomenology. However, the patients with DYT-1 dystonia and isolated dystonia without a known genetic cause showed marked improvement.GPi DBS is a safe and efficient therapeutic method for treatment of dystonia patients to improve both movement and disability. However, this study has some limitations caused by the retrospective design with small sample size in a single-center.

  9. Clinical benefits of drug-eluting stent implantation in septuagenarians with coronary artery disease

    International Nuclear Information System (INIS)

    Fang Yuehua; Shen Weifeng; Zhang Ruiyan; Zhang Jiansheng; Hu Jian; Zhang Xian; Zheng Aifang

    2005-01-01

    Objective: This study evaluated the safety and long-term outcomes of drug-eluting stents in septuagenarians with coronary artery disease. Methods: Two hundred and thirty-nine consecutive patients with coronary artery disease underwent drug-eluting stenting, including 88 patients aged ≥70 years (group A) and 151 aged <70 years (group B). Baseline clinical characteristics, procedural success rate, occurrence of cardiac events during follow-up were recorded and compared between the two groups. Results: Procedural success rate and complications were similar for the two groups. During follow-up, group A had higher recurrence rate of chest pain than group B (23.9% vs. 7.3%, P<0.001), and occurrence of cardiac events was higher in group A than in group B (5.7% vs. 2.7%, P<0.296). There was no significant difference in the frequency of restenosis between the two groups. Conclusions: Drug-eluting stent implantation for septuagenarians with coronary artery disease is safe but may have more recurrence of angina than younger ones during long-term follow-up. (authors)

  10. Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).

    Science.gov (United States)

    Wolff, G; Mayerová, A; Wienker, T F; Atalianis, P; Ioannou, P; Warburg, M

    1992-11-01

    We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agreed to blood sampling for genetic investigations. RFLP analysis was performed using probes from the region known to be deleted in some Norrie patients and polymorphic markers (DXS77, DXS7, MAOA, DXS255) from the proximal short arm of the X chromosome. There was no deletion for any of the probes in the affected males. Linkage analysis yielded positive lod scores for all informative markers (Z (DXS255, theta = 0) = 6.54, Z (MAOA, theta = 0) = 2.23, Z (DXS7, theta = 0) = 2.13). Thus, the conclusion that Episkopi blindness and Norrie disease (NDP, MIM *310600) are the same entity based on clinical evidence is now reinforced by gene mapping.

  11. Alzheimer Disease Biomarkers as Outcome Measures for Clinical Trials in MCI.

    Science.gov (United States)

    Caroli, Anna; Prestia, Annapaola; Wade, Sara; Chen, Kewei; Ayutyanont, Napatkamon; Landau, Susan M; Madison, Cindee M; Haense, Cathleen; Herholz, Karl; Reiman, Eric M; Jagust, William J; Frisoni, Giovanni B

    2015-01-01

    The aim of this study was to compare the performance and power of the best-established diagnostic biological markers as outcome measures for clinical trials in patients with mild cognitive impairment (MCI). Magnetic resonance imaging, F-18 fluorodeoxyglucose positron emission tomography markers, and Alzheimer's Disease Assessment Scale-cognitive subscale were compared in terms of effect size and statistical power over different follow-up periods in 2 MCI groups, selected from Alzheimer's Disease Neuroimaging Initiative data set based on cerebrospinal fluid (abnormal cerebrospinal fluid Aβ1-42 concentration-ABETA+) or magnetic resonance imaging evidence of Alzheimer disease (positivity to hippocampal atrophy-HIPPO+). Biomarkers progression was modeled through mixed effect models. Scaled slope was chosen as measure of effect size. Biomarkers power was estimated using simulation algorithms. Seventy-four ABETA+ and 51 HIPPO+ MCI patients were included in the study. Imaging biomarkers of neurodegeneration, especially MR measurements, showed highest performance. For all biomarkers and both MCI groups, power increased with increasing follow-up time, irrespective of biomarker assessment frequency. These findings provide information about biomarker enrichment and outcome measurements that could be employed to reduce MCI patient samples and treatment duration in future clinical trials.

  12. Long-Term Outcomes of Total Exudative Retinal Detachments in Stage 3B Coats Disease.

    Science.gov (United States)

    Li, Albert S; Capone, Antonio; Trese, Michael T; Sears, Jonathan E; Kychenthal, Andres; De la Huerta, Irina; Ferrone, Philip J

    2018-06-01

    To evaluate the long-term outcomes of treatment of total exudative retinal detachments (ERDs) secondary to Coats disease (stage 3B) and the role of vitrectomy. Retrospective, observational case series. A total of 16 eyes in 16 patients undergoing treatment for total ERDs secondary to Coats disease with at least 5 years of follow-up. We reviewed the records of patients with stage 3B Coats disease. The interventions, including the timing of vitrectomy if used, and clinical course were recorded. The primary outcome measures were visual acuity at the most recent appointment, whether there was progression to neovascular glaucoma (NVG) or phthisis bulbi, and need for enucleation. All patients received ablative treatment (photocoagulation or cryotherapy), with 8 having scleral buckling (SB) and 6 having external drainage of subretinal fluid (XD). Of the 12 patients who had pars plana vitrectomy (PPV), 8 had early PPV (EV) in the first year after presenting, and 4 of 8 in the expectant management group had late PPV (late vitrectomy) at a mean of 4.3 years post-presentation for treatment of significant traction retinal detachment (TRD). The other 4 patients of 8 in the expectant management group did not require vitrectomy. Mean follow-up overall was 9 1/2 years. At the date of last follow-up, 50% had no light perception or light perception vision, which was consistent across the subgroups that underwent EV (4/8), late vitrectomy (2/4), or no PPV (2/4). A total of 4 of 16 patients had progression to NVG or phthisis, 1 of whom required enucleation. In this retrospective series of patients with Stage 3B Coats disease, ablative therapy with a combination of PPV, XD, or SB was effective in preventing progression to NVG or phthisis in the majority of patients, thus preserving the globe. Half of the patients (4/8) in this series who did not undergo PPV in the early vitrectomy group developed late-onset TRD, suggesting a possible role for early prophylactic vitrectomy with possible

  13. Social cognitive markers of short-term clinical outcome in first-episode psychosis.

    Science.gov (United States)

    Montreuil, Tina; Bodnar, Michael; Bertrand, Marie-Claude; Malla, Ashok K; Joober, Ridha; Lepage, Martin

    2010-07-01

    In psychotic disorders, impairments in cognition have been associated with both clinical and functional outcome, while deficits in social cognition have been associated with functional outcome. As an extension to a recent report on neurocognition and short-term clinical outcome in first-episode psychosis (FEP), the current study explored whether social cognitive deficits could also identify poor short-term clinical outcome among FEP patients. We defined the social-cognition domain based on the scores from the Hinting Task and the Four Factor Tests of Social Intelligence. Data were collected in 45 FEP patients and 26 healthy controls. The patients were divided into good- and poor-outcome groups based on clinical data at six months following initiation of treatment. Social cognition was compared among 27 poor-outcome, 18 good-outcome, and 26 healthy-control participants. Outcome groups significantly differed in the social cognition domain (z-scores: poor outcome=-2.0 [SD=1.4]; good outcome=-1.0 [SD=1.0]; p=0.005), with both groups scoring significantly lower than the control group (psocial cognition appears to be compromised in all FEP patients compared to healthy controls. More interestingly, significant differences in social cognitive impairments exist between good and poor short-term clinical outcome groups, with the largest effect found in the Cartoon Predictions subtest.

  14. Chronic Disease Management in Family Practice: Clinical Note.

    Science.gov (United States)

    1998-03-01

    disease management in the family practice selling. This paper discusses chronic disease management in the family practice selling....Chronic disease management is the process of evaluating and treating a medical condition or disease state which can not be readily cured so as to...minimize it’s negative impact on the individual. Examples of chronic disease management include the treatment of hypertension, diabetes, osteoporosis

  15. Clinical spectrum of impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Weintraub, Daniel; David, Anthony S; Evans, Andrew H; Grant, Jon E; Stacy, Mark

    2015-02-01

    Impulse control disorders (ICDs), including compulsive gambling, buying, sexual behavior, and eating, are a serious and increasingly recognized psychiatric complication in Parkinson's disease (PD). Other impulsive-compulsive behaviors (ICBs) have been described in PD, including punding (stereotyped, repetitive, purposeless behaviors) and dopamine dysregulation syndrome (DDS; compulsive PD medication overuse). ICDs have been most closely related to the use of dopamine agonists (DAs), perhaps more so at higher doses; in contrast, DDS is primarily associated with shorter-acting, higher-potency dopaminergic medications, such as apomorphine and levodopa. Possible risk factors for ICDs include male sex, younger age and younger age at PD onset, a pre-PD history of ICDs, and a personal or family history of substance abuse, bipolar disorder, or gambling problems. Given the paucity of treatment options and potentially serious consequences, it is critical for PD patients to be monitored closely for development of ICDs as part of routine clinical care. © 2014 International Parkinson and Movement Disorder Society.

  16. Ivabradine in stable coronary artery disease without clinical heart failure

    DEFF Research Database (Denmark)

    Fox, Kim; Ford, Ian; Steg, Philippe Gabriel

    2014-01-01

    minute or more. METHODS: We conducted a randomized, double-blind, placebo-controlled trial of ivabradine, added to standard background therapy, in 19,102 patients who had both stable coronary artery disease without clinical heart failure and a heart rate of 70 beats per minute or more (including 12......,049 patients with activity-limiting angina [class ≥II on the Canadian Cardiovascular Society scale, which ranges from I to IV, with higher classes indicating greater limitations on physical activity owing to angina]). We randomly assigned patients to placebo or ivabradine, at a dose of up to 10 mg twice daily......, with the dose adjusted to achieve a target heart rate of 55 to 60 beats per minute. The primary end point was a composite of death from cardiovascular causes or nonfatal myocardial infarction. RESULTS: At 3 months, the mean (±SD) heart rate of the patients was 60.7±9.0 beats per minute in the ivabradine group...

  17. Diffusion abnormality maps in demyelinating disease: Correlations with clinical scores

    International Nuclear Information System (INIS)

    Onu, Mihaela; Roceanu, Adina; Sboto-Frankenstein, Uta; Bendic, Robert; Tarta, Eugen; Preoteasa, Florentin; Bajenaru, Ovidiu

    2012-01-01

    Background and purpose: Magnetic resonance imaging (MRI) has been explored as a noninvasive tool to assess pathology in multiple sclerosis (MS) patients. However, the correlation between classical MRI measures and physical disability is modest in MS. The diffusion tensor imaging (DTI) MRI technique holds particular promise in this regard. The present study shows brain regions where FA and individual diffusivities abnormalities are present and check their correlations with physical disability clinical scores. Methods: Eight patients and 12 matched healthy controls were recruited. The Multiple Sclerosis Functional Composite was administered. For MR-DTI acquisitions, a Genesis Signa 1.5T MR system, an EP/SE scanning sequence, 25 gradient directions were used. Results: Tract Based Spatial Statistics (TBSS) group comparisons showed reduced FA and increased individual diffusivities in several brain regions in patients. Significant correlations were found between FA and: EDSS, 9-HPT(NON)DOM and 25FW score; between λ 2 and: P100 (r and l), 9-HPT(NON)DOM and 25FW; between λ 3 and: 9-HPT(NON)DOM and 25FW score. Conclusions: Fractional anisotropy and individual radial diffusivities proved to be important markers of motor disabilities in MS patients when the disease duration mean and the disability scores values range are relatively high.

  18. Genomics and epigenomics in rheumatic diseases: what do they provide in terms of diagnosis and disease management?

    Science.gov (United States)

    Castro-Santos, Patricia; Díaz-Peña, Roberto

    2017-09-01

    Most rheumatic diseases are complex or multifactorial entities with pathogeneses that interact with both multiple genetic factors and a high number of diverse environmental factors. Knowledge of the human genome sequence and its diversity among populations has provided a crucial step forward in our understanding of genetic diseases, identifying many genetic loci or genes associated with diverse phenotypes. In general, susceptibility to autoimmunity is associated with multiple risk factors, but the mechanism of the environmental component influence is poorly understood. Studies in twins have demonstrated that genetics do not explain the totality of the pathogenesis of rheumatic diseases. One method of modulating gene expression through environmental effects is via epigenetic modifications. These techniques open a new field for identifying useful new biomarkers and therapeutic targets. In this context, the development of "-omics" techniques is an opportunity to progress in our knowledge of complex diseases, impacting the discovery of new potential biomarkers suitable for their introduction into clinical practice. In this review, we focus on the recent advances in the fields of genomics and epigenomics in rheumatic diseases and their potential to be useful for the diagnosis, follow-up, and treatment of these diseases. The ultimate aim of genomic studies in any human disease is to understand its pathogenesis, thereby enabling the prediction of the evolution of the disease to establish new treatments and address the development of personalized therapies.

  19. Telemedicine support to patients with chronic diseases for better long-term control at home

    Directory of Open Access Journals (Sweden)

    Drago Rudel

    2017-02-01

    Full Text Available Authors in many scientific publications suggest that the telemonitoring of health parameters is a useful tool for supporting patients with long-term conditions staying at home and their self-management of the disease. Those patients are likely to benefit from timely and adequate response to deteriorated conditions detected by the telemedicine system. Almost all of the studies state that telemedicine provided as telemonitoring can be an effective add-on tool in the hands of patients and medical experts for the self-management of patients with, for example, heart failure or diabetes. In this paper the principles of patient telemonitoring are presented as applied within a telemedicine service provided by the Centre for Telehealth (CEZAR at the General Hospital Slovenj Gradec (Slovenia. The centre supports patients with diabetes mellitus type 2 and/or with chronic congestive heart failure. The service was set-up in 2014 as part of a European project called UNITED4HEALTH. Since then over 550 patients from the Carinthia and Saleška regions (Slovenia have been receiving telemedicine support for more than two years. The clinical outcomes of the telemedicine service published elsewhere prove that the selected telemedicine service model is adequate and the implemented technological solution is acceptable for all service users: the patients and the clinicians.

  20. Mitral valve reconstruction in Barlow disease: long-term echographic results and implications for surgical management.

    Science.gov (United States)

    Jouan, Jérôme; Berrebi, Alain; Chauvaud, Sylvain; Menasché, Philippe; Carpentier, Alain; Fabiani, Jean-Noël

    2012-04-01

    Owing to the complexity of the underlying lesions, Barlow disease remains a challenge for surgeons performing mitral valve repair. We aimed to assess whether our most recent results involving several surgeons were comparable with those of a previous experience in which mitral valve repair was performed by a more limited group of surgeons. From September 2000 to January 2007, 200 patients with Barlow disease (135 men and 65 women; mean age, 56 ± 13 years) were referred to our institution for surgical treatment of their mitral regurgitation. We retrospectively analysed the mitral lesions characteristics, the surgical techniques used, and clinical outcomes. Follow-up echocardiograms were biannually reviewed. Lesions comprised annular dilatation, excess tissue, and leaflet prolapse in all cases. The most frequent prolapsed segments were P2 (88.5%; n = 177) and A2 (55.5%; n = 111). Annular calcifications and restrictive valvular motion were associated in 20% (n = 40). Repair was feasible in 94.7% (n = 179/189) of non-redo interventions. Immediate postoperative echocardiography showed residual mitral regurgitation greater than 1+ in 6 cases; these patients were all reoperated on within the next months. Operative mortality was 1.5% (n = 3). Mean follow-up was 77.5 ± 25.6 months. At 8 years postoperatively, overall survival was 88.6% ± 3.1%, freedom from reintervention was 95.3% ± 1.7%, and freedom from late recurrent moderate mitral regurgitation (>2+) was 90.2% ± 3.1% Provided that the fundamental principles of mitral valve reconstruction are respected, the surgical techniques are highly reproducible with good long-term results, similar to those published during the pioneering phase of this surgery. Copyright © 2012 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

  1. Long-term results of radioiodine (131I) therapy in 331 patients with Graves' disease

    International Nuclear Information System (INIS)

    Saito, Shintaro; Sakurada, Toshiro; Yamamoto, Makiko; Yoshida, Katsumi; Kaise, Kazuo

    1980-01-01

    To evaluate the long-term results of 131 I treatment for Graves' disease, the thyroid function was studied in 331 patients 5 - 17 years after this therapy. Twenty-five patients were hypothyroid and had already been on thyroid medication. Among the remaining 306 patients without any treatment for thyroid disorder, 188 patients (61.4%) had a normal thyroid-stimulating hormone (TSH) level (less than 10 μU/ml) of whom 151 were euthyroid with normal thyroxine (T 4 ) and triiodothyronine (T 3 ) level. 118 patients (38.6%) had a high TSH level, of whom 22 were hypothyroid with low T 4 and T 3 levels and 38 were with normal T 3 and low T 4 levels, and 14 patients out of this 38 were clinically hypothyroid. Although all of the patients with high TSH levels do not require the replacement therapy for hypothyroidism, the overt hypothyroidism seems to occur sooner or later in patients with a lower T 4 level. Among 331 patients studied, 61 (18.4%) were clinically hypothyroid. The incidence of hypothyroidism was 20.7% after 10 years of 131 I treatment and 33% after 15 - 17 years. The incidence of patients with high TSH levels was 50% after 10 years of 131 I treatment and 60% after 15 - 17 years. Both of cumulative incidence of hypothyroidism and patients with high TSH levels increased linearly with years after the treatment, which coincided with the linear decrease of mean T 4 and T 3 levels and linear increase of mean TSH level with years after the treatment. The difference of positive incidence of antithyroid antibodies between cases of normal TSH level and high TSH level was not significant. (author)

  2. Assessing the Short-Term Global Health Experience: A Cross-Sectional Study of Demographics, Socioeconomic Factors, and Disease Prevalence.

    Science.gov (United States)

    Geen, Olivia; Pumputis, Allison; Kochi, Cristina; Costa, Andrew; Stobbe, Karl

    2017-08-01

    Interest in short-term global health experiences to underserviced populations has grown rapidly in the last few decades. However, there remains very little research on what participants can expect to encounter. At the same time, it has been suggested that in order for physicians and workers to provide safe and effective care, volunteers should have a basic understanding of local culture, health systems, epidemiology, and socioeconomic needs of the community before arriving. Our objective was to add to the limited literature on what short-term global health trips can expect to encounter through a cross-sectional study of patient demographics, socioeconomic markers, and the prevalence of diseases encountered on a short-term medical service trip to Lima, Peru. Descriptive analysis was conducted on clinic data collected from patients living in Pamplona Alta and Pamplona Baja, Lima, Peru, in July 2015. We found that volunteers encountered mainly female patients (70.8%), and that there were significant socioeconomic barriers to care including poverty, poor housing, environmental exposures, and lack of continuity of health care. Analysis of the disease prevalence found a high proportion of acute and chronic musculoskeletal pain in the adult populations (18.8% and 11.4%, respectively), and a high presentation of upper respiratory tract infections (25.4%) and parasites (22.0%) in the pediatric group. These findings can be used by future short-term medical service trips to address potential gaps in care including the organization of weekend clinics to allow access to working men, and the use of patient education and nonpharmacological management of acute and chronic disease.

  3. Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

    Science.gov (United States)

    Taylor, Rachel L; Parry, Neil R A; Barton, Stephanie J; Campbell, Christopher; Delaney, Claire M; Ellingford, Jamie M; Hall, Georgina; Hardcastle, Claire; Morarji, Jiten; Nichol, Elisabeth J; Williams, Lindsi C; Douzgou, Sofia; Clayton-Smith, Jill; Ramsden, Simon C; Sharma, Vinod; Biswas, Susmito; Lloyd, I Chris; Ashworth, Jane L; Black, Graeme C; Sergouniotis, Panagiotis I

    2017-07-01

    To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD). Single-center retrospective case series. Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016. Participants underwent a detailed ophthalmic examination, accompanied by electrodiagnostic testing (EDT) and dysmorphologic assessment where appropriate. Ocular and extraocular features were recorded using Human Phenotype Ontology terms. Subsequently, multigene panel testing (105 or 177 IRD-associated genes) was performed in an accredited diagnostic laboratory, followed by clinical variant interpretation. Diagnostic yield and clinical usefulness of genetic testing. Overall, 78.8% of patients (n = 67) received a probable molecular diagnosis; 7.5% (n = 5) of these had autosomal dominant disease, 25.4% (n = 17) had X-linked disease, and 67.2% (n = 45) had autosomal recessive disease. In a further 5.9% of patients (n = 5), a single heterozygous ABCA4 variant was identified; all these participants had a spectrum of clinical features consistent with ABCA4 retinopathy. Most participants (84.7%; n = 72) had undergone EDT and 81.9% (n = 59) of these patients received a probable molecular diagnosis. The genes most frequently mutated in the present cohort were CACNA1F and ABCA4, accounting for 14.9% (n = 10) and 11.9% (n = 8) of diagnoses respectively. Notably, in many cases, genetic testing helped to distinguish stationary from progressive IRD subtypes and to establish a precise diagnosis in a timely fashion. Multigene panel testing pointed to a molecular diagnosis in 84.7% of children with IRD. The diagnostic yield in the study population was significantly higher compared with that in previously reported unselected IRD cohorts. Approaches similar to the one described herein are expected to become a standard component of care in pediatric ophthalmology

  4. Heterogeneous pattern of bone disease in adult type 1 Gaucher disease: clinical and pathological correlates.

    Science.gov (United States)

    van Dussen, L; Lips, P; van Essen, H W; Hollak, C E M; Bravenboer, N

    2014-09-01

    Gaucher disease (GD) is a lysosomal storage disorder characterized by accumulation of glucosylceramide in macrophages, so-called Gaucher cells, as a result of a deficiency of the lysosomal enzyme glucocerebrosidase. Bone complications are an important cause of morbidity of GD and are thought to result from imbalance in bone remodeling. Bone manifestations among GD patients demonstrate a large variation including increased osteoclastic bone resorption, low bone formation and osteonecrosis. The purpose of the current case series is to describe the histological features observed in undecalcified bone samples, obtained from three GD patients, and evaluate the relationship with clinical features in these patients. Bone fragments were obtained from three adult type 1 GD patients with variable degrees of bone disease during orthopedic surgery. Specimens were embedded without prior decalcification in methylmethacrylate and prepared for histology according to standardized laboratory procedures. Histology revealed a heterogeneous pattern of bone involvement. High cellularity of bone marrow, abundant presence of Gaucher cells (GCs) and high turnover were observed in a patient with a history of multiple bone complications, while minimal bone turnover and few GCs were detected in the mildest affected patient in this series. An intermediate picture with relatively low bone turnover and a substantial amount of Gaucher cells was demonstrated in the third, moderately affected patient. No gross abnormalities in three biochemical markers of bone turnover (osteocalcin, N-terminal propeptide of type 1 procollagen and type 1 collagen C-terminal telopeptide) were noted. Plastic embedding and subsequent Goldner and TRAP staining offered a unique possibility to study bone histological findings in GD. Our data show that bone manifestations in GD may vary both clinically as well as histologically and bone disease in GD will likely require a personalized approach. Copyright © 2014 Elsevier

  5. The Infectious Diseases Society of America emerging infections network: bridging the gap between clinical infectious diseases and public health.

    Science.gov (United States)

    Pillai, Satish K; Beekmann, Susan E; Santibanez, Scott; Polgreen, Philip M

    2014-04-01

    In 1995, the Centers for Disease Control and Prevention granted a Cooperative Agreement Program award to the Infectious Diseases Society of America to develop a provider-based emerging infections sentinel network, the Emerging Infections Network (EIN). Over the past 17 years, the EIN has evolved into a flexible, nationwide network with membership representing a broad cross-section of infectious disease physicians. The EIN has an active electronic mail conference (listserv) that facilitates communication among infectious disease providers and the public health community, and also sends members periodic queries (short surveys on infectious disease topics) that have addressed numerous topics relevant to both clinical infectious diseases and public health practice. The article reviews how the various functions of EIN contribute to clinical care and public health, identifies opportunities to further link clinical medicine and public health, and describes future directions for the EIN.

  6. A Review of the Centers for Disease Control and Prevention's Guidelines for the Clinical Laboratory Diagnosis of Lyme Disease.

    Science.gov (United States)

    Miraglia, Caterina M

    2016-12-01

    The purpose of this paper is to review information regarding the current guidelines for the clinical laboratory diagnosis of Lyme disease as set forth by the Centers for Disease Control and Prevention (CDC) to chiropractic physicians and to discuss the clinical utility of this testing. The CDC's website was reviewed to determine what their current recommendations are for the clinical laboratory testing of Lyme disease. The CDC's established guidelines recommend the use of a 2-tiered serologic testing algorithm for the evaluation of patients with suspected Lyme disease. This review provides doctors of chiropractic with information to remain current with the CDC's recommended guidelines for Lyme disease testing because patients may present to their office with the associated signs and symptoms of Lyme disease.

  7. Long-term Outcomes of Elective Surgery for Diverticular Disease: A Call for Standardization.

    Science.gov (United States)

    Biondi, Alberto; Santullo, Francesco; Fico, Valeria; Persiani, Roberto

    2016-10-01

    To date, the appropriate management of diverticular disease is still controversial. The American Society of Colon and Rectal Surgeons declared that the decision between conservative or surgical approach should be taken by a case-by-case evaluation. There is still lack of evidence in literature about long-term outcomes after elective sigmoid resection for diverticular disease. Considering the potentially key role of the surgical technique in long-term outcomes, there is the need for surgeons to define strict rules to standardize the surgical technique. Currently there are 5 areas of debate in elective surgery for diverticular disease: laparoscopic versus open approach, the site of the proximal and distal colonic division, the vascular approach and the mobilization of the splenic flexure. The purpose of this paper is to review existing knowledge about technical aspects, which represent how the surgeon is able to affect the long-term results.

  8. The mid-to-long term therapeutic efficacy of Graves' disease after interventional embolization

    International Nuclear Information System (INIS)

    Li Weiduo; Yang Jianyong; Zhuang Wenquan; Chen Wei; Li Heping

    2002-01-01

    Objective: To explore the mid-to-long term therapeutic efficacy of Graves' disease after interventional embolization. Methods: Twenty-five patients of Graves' disease treated with interventional embolization were followed up for 24-57 months. T 3 and T 4 were monitored at pre-operation, six months, 12 months, 2, 3 and 4 years after operation, respectively. Other references included pulse, thyroid size, and vessel's murmur. Results: Twenty-two patients completely relieved from the hyperthyroidism during the follow-up. Only one patient suffered from recurrence. Other two patients were still on maintaining dosage of antithyroid drug therapy. No hypothyroidism or hypoparathyroidism was found during this term. Conclusion: Mid-to-long term follow-up showed satisfactory efficacy of interventional therapy, offering another alternative for treatment of refractory Graves' disease

  9. Automated interpretable computational biology in the clinic: a framework to predict disease severity and stratify patients from clinical data

    Directory of Open Access Journals (Sweden)

    Soumya Banerjee

    2017-10-01

    Full Text Available We outline an automated computational and machine learning framework that predicts disease severity and stratifies patients. We apply our framework to available clinical data. Our algorithm automatically generates insights and predicts disease severity with minimal operator intervention. The computational framework presented here can be used to stratify patients, predict disease severity and propose novel biomarkers for disease. Insights from machine learning algorithms coupled with clinical data may help guide therapy, personalize treatment and help clinicians understand the change in disease over time. Computational techniques like these can be used in translational medicine in close collaboration with clinicians and healthcare providers. Our models are also interpretable, allowing clinicians with minimal machine learning experience to engage in model building. This work is a step towards automated machine learning in the clinic.

  10. Control of neglected tropical diseases needs a long-term commitment

    Directory of Open Access Journals (Sweden)

    Mubila Likezo

    2010-10-01

    Full Text Available Abstract Background Neglected tropical diseases are widespread, particularly in sub-Saharan Africa, affecting over 2 billion individuals. Control of these diseases has gathered pace in recent years, with increased levels of funding from a number of governmental or non-governmental donors. Focus has currently been on five major 'tool-ready' neglected tropical diseases (lymphatic filariasis, onchocerciasis, schistosomiasis, soil-transmitted helminthiasis and trachoma, using a package of integrated drug delivery according to the World Health Organization guidelines for preventive chemotherapy. Discussion Success in controlling these neglected tropical diseases has been achieved in a number of countries in recent history. Experience from these successes suggests that long-term sustainable control of these diseases requires: (1 a long-term commitment from a wider range of donors and from governments of endemic countries; (2 close partnerships of donors, World Health Organization, pharmaceutical industries, governments of endemic countries, communities, and non-governmental developmental organisations; (3 concerted action from more donor countries to provide the necessary funds, and from the endemic countries to work together to prevent cross-border disease transmission; (4 comprehensive control measures for certain diseases; and (5 strengthened primary healthcare systems as platforms for the national control programmes and capacity building through implementation of the programmes. Conclusions The current level of funding for the control of neglected tropical diseases has never been seen before, but it is still not enough to scale up to the 2 billion people in all endemic countries. While more donors are sought, the stakeholders must work in a coordinated and harmonised way to identify the priority areas and the best delivery approaches to use the current funds to the maximum effect. Case management and other necessary control measures should be

  11. Vascular care in patients with Alzheimer's disease with cerebrovascular lesions-a randomized clinical trial

    NARCIS (Netherlands)

    Richard, Edo; Kuiper, Roy; Dijkgraaf, Marcel G. W.; van Gool, Willem A.

    2009-01-01

    OBJECTIVES: To investigate whether vascular care slows dementia progression in patients with Alzheimer's disease with cerebrovascular lesions on neuroimaging. DESIGN: Multicenter randomized controlled clinical trial with 2-year follow-up. SETTING: Neurological and geriatric outpatient clinics in 10

  12. Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases.

    Directory of Open Access Journals (Sweden)

    Xiaokun Hu

    Full Text Available The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases.During a 3-year period (January 2009 to December 2012, 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen University were evaluated.ICSI was performed on 2206 metaphase II oocytes, and normal fertilization and cleavage rates were 83.4% (1840/2206 and 96.2% (1770/1840, respectively. In the present study, 60.5% (181/299 of day 3 good-quality embryos developed into good-quality embryos on day 4 after biopsy. Collectively, 42.9% clinical pregnancy rate (79/184 and 28.5% implantation rate (111/389 were presented. In the adjusted linear regression model, the only two significant factors affecting the number of genetically unaffected embryos were the number of biopsied embryos (coefficient: 0.390, 95%CI 0.317-0.463, P = 0.000 and basal FSH level (coefficient: 0.198, 95%CI 0.031-0.365, P = 0.021. In the adjusted binary logistic regression model, the only two significant factors affecting pregnancy outcome were the number of genetically available transferable embryos after PGD (adjusted OR 1.345, 95% CI 1.148-1.575, P = 0.000 and number of oocyte retrieved (adjusted OR 0.934, 95% CI 0.877-0.994, P = 0.031.There should be at least four biopsied embryos to obtain at least one unaffected embryos in a PGD system for patients with single gene disorder and under the condition of basal FSH level smaller than 8.0mmol/L. Moreover, if only a low number (< 4 of biopsied embryos are available on day 3, the chance of unaffected embryos for transfer was small, with poor outcome.

  13. Critical appraisal of the long-term impact of memantine in treatment of moderate to severe Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    Umamon Puangthong

    2009-10-01

    Full Text Available Umamon Puangthong, Ging-Yuek Robin HsiungDivision of Neurology, Department of Medicine, University of British Columbia, Vancouver, BC, CanadaAbstract: Alzheimer’s disease is the most common cause of dementia in older adults. The clinical features include progressive memory decline as well as cognitive deficits with executive dysfunction, language, visual perceptual difficulties, apraxia and agnosia. During the moderate to severe stage of the disease, there is a major decline in memory and function, while neuropsychiatric disturbances often emerge and patients become difficult to manage. These distressing symptoms increase caregiver burden and add to the direct costs of care of the patients. Any improvements in patient function and behavioral symptoms can reduce caregiver burden. Memantine has been available for a number of years in Europe and in North America. In this article, we examine the pharmacological rationale for its use, and the current clinical evidence for its efficacy and long-term effectiveness in the management of cognitive and behavioral symptoms in moderate to severe stages of Alzheimer’s disease.Keywords: memantine, Alzheimer’s disease, dementia

  14. Bone marrow mononuclear cell implantation in myocardial laser channels in the ischemic heart disease surgery. Long-term results

    Science.gov (United States)

    Chernyavskiy, Alexander; Fomichev, Alexey; Minin, Stanislav; Nikitin, Nikita

    2017-10-01

    Background: The problem of incomplete myocardial revascularization for diffuse and distal lesions of the myocardium is still relevant. We assessed the clinical and instrumental long-term results of autologous bone marrow cell (BMC) implantation in laser channels in ischemic heart disease with diffuse and distal coronary disease. 35 coronary heart disease (CHD) patients with diffuse and distal coronary disease during coronary artery bypass grafting (CABG) underwent BMC implantation in laser channels. The control group consisted of 29 patients. All patients in this group underwent only CABG. Clinical and instrumental assessment of the method's effect was carried out at two weeks, six months, and six years after surgery. Indirect revascularization showed more significant decreasing of the functional class (FC) New York Heart Association (NYHA), myocardial perfusion and contractility improvement. Autologous BMC implantation in laser channels is an effective method of CHD surgical treatment if it is impossible to perform direct myocardial revascularization. The indirect revascularization effect is formed in the first six months after surgery and remains at the same level for six years.

  15. An Update on Renal Artery Denervation and Its Clinical Impact on Hypertensive Disease

    OpenAIRE

    Bhat, Aditya; Kuang, Ye Min; Gan, Gary C. H.; Burgess, David; Denniss, Alan Robert

    2015-01-01

    Hypertension is a globally prevalent condition, with a heavy clinical and economic burden. It is the predominant risk factor for premature cardiovascular and cerebrovascular disease, and is associated with a variety of clinical disorders including stroke, congestive cardiac failure, ischaemic heart disease, chronic renal failure, and peripheral arterial disease. A significant subset of hypertensive patients have resistant hypertensive disease. In this group of patients, catheter-based renal a...

  16. Renal function predicts long-term outcome on enzyme replacement therapy in patients with Fabry disease.

    Science.gov (United States)

    Lenders, Malte; Schmitz, Boris; Stypmann, Jörg; Duning, Thomas; Brand, Stefan-Martin; Kurschat, Christine; Brand, Eva

    2017-12-01

    Renal and cardiac involvement is responsible for substantial morbidity and mortality in Fabry disease (FD). We analysed the incidence of FD-related renal, cardiac and neurologic end points in patients with FD on long-term enzyme replacement therapy (ERT). A retrospective analysis of prospectively collected data from two German FD centres was performed. The impact of renal and cardiac function at ERT-naïve baseline on end point development despite ERT was analysed. Fifty-four patients (28 females) receiving ERT (mean 81 ± 21 months) were investigated. Forty per cent of patients were diagnosed with clinical end points before ERT initiation and 50% of patients on ERT developed new clinical end points. In patients initially diagnosed with an end point before ERT initiation, the risk for an additional end point on ERT was increased {hazard ratio [HR] 3.83 [95% confidence interval (CI) 1.61-9.08]; P = 0.0023}. A decreased glomerular filtration rate (eGFR) ≤75 mL/min/1.73 m2 in ERT-naïve patients at baseline was associated with an increased risk for cardiovascular end points [HR 3.59 (95% CI 1.15-11.18); P = 0.0273] as well as for combined renal, cardiac and neurologic end points on ERT [HR 4.77 (95% CI 1.93-11.81); P = 0.0007]. In patients with normal kidney function, left ventricular hypertrophy at baseline predicted a decreased end point-free survival [HR 6.90 (95% CI 2.04-23.27); P = 0.0018]. The risk to develop an end point was independent of sex. In addition to age, even moderately impaired renal function determines FD progression on ERT. In patients with FD, renal and cardiac protection is warranted to prevent patients from deleterious manifestations of the disease. © The Author 2016. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  17. Terms, concepts and definitions in clinical artificial nutrition. The ConT-SEEN Project.

    Science.gov (United States)

    Del Olmo García, María Dolores; Ocón Bretón, Julia; Álvarez Hernández, Julia; Ballesteros Pomar, María Dolores; Botella Romero, Francisco; Bretón Lesmes, Irene; de Luis Román, Daniel; Luengo Pérez, Luis Miguel; Martínez Olmos, Miguel Ángel; Olveira Fuster, Gabriel

    2018-01-01

    Imprecision in terms used in the field of clinical nutrition may lead to misinterpretations among professionals. For this reason, the Spanish Society of Endocrinology and Nutrition (SEEN) promoted this document on the terms and definitions used in clinical artificial nutrition (enteral and parenteral), establishing an agreement between Spanish experts of this specialty. Forty-seven specialists in endocrinology and nutrition, members of the Nutrition Area of the SEEN, participated between April and September 2016. After a systematic literature review, 52 concepts were proposed. The coordinators included two additional concepts, and 57were finally selected by the working group: 13 of a general nature, 30 referring to enteral nutrition and 14 to parenteral nutrition. The degree of agreement was subsequently determined using a two-round Delphi process. It was finally ratified by consistency and concordance analysis. Fifty-four of the 57 terms had a very consistent agreement and were concordant. Only three showed no concordance, of whom two were very consistent and one inconsistent. In conclusion, there was consensus in the definition of 54 basic terms in the practice of clinical nutrition. Copyright © 2017 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Advances in clinical application of optical coherence tomography in vitreomacular interface disease

    Directory of Open Access Journals (Sweden)

    Xiao-Li Xing

    2013-08-01

    Full Text Available Vitreous macular interface disease mainly includes vitreomacular traction syndrome, idiopathic macular epiretinal membrane and idiopathic macular hole. Optical coherence tomography(OCTas a new tool that provides high resolution biopsy cross section image non traumatic imaging inspection, has a unique high resolution, no damage characteristics, and hence clinical widely used, vitreous macular interface for clinical disease diagnosis, differential diagnosis and condition monitoring and quantitative evaluation, treatment options, etc provides important information and reference value. Vitreous macular interface disease in OCT image of anatomical morphology characteristics, improve the clinical on disease occurrence and development of knowledge. We reviewed the advances in the application of OCT in vitreomacular interface disease.

  19. Ebola Virus Disease Candidate Vaccines Under Evaluation in Clinical Trials

    Science.gov (United States)

    2016-06-02

    evidence that oral vaccines fail in populations with disturbed microbiota, poor nutrition , and high intestinal inflammation [102-104]. Additionally...countermeasure development against Ebola virus disease becoming a global public- health priority. This review summarizes the status quo of candidate...members of the mononegaviral family Filoviridae) cause two diseases recognized by the World Health Organization (WHO): Ebola virus disease (EVD) can be

  20. Precision medicine in airway diseases: moving to clinical practice

    NARCIS (Netherlands)

    Agustí, Alvar; Bafadhel, Mona; Beasley, Richard; Bel, Elisabeth H.; Faner, Rosa; Gibson, Peter G.; Louis, Renaud; McDonald, Vanessa M.; Sterk, Peter J.; Thomas, Mike; Vogelmeier, Claus; Pavord, Ian D.

    2017-01-01

    On February 21, 2017, a European Respiratory Society research seminar held in Barcelona discussed how to best apply precision medicine to chronic airway diseases such as asthma and chronic obstructive pulmonary disease. It is now clear that both are complex and heterogeneous diseases, that often

  1. Neuroinflammation and Alzheimer disease: clinical and therapeutic implications

    NARCIS (Netherlands)

    Eikelenboom, P.; Rozemuller, A. J.; Hoozemans, J. J.; Veerhuis, R.; van Gool, W. A.

    2000-01-01

    In Alzheimer disease brains, the amyloid plaques are closely associated with a locally induced, nonimmune-mediated, chronic inflammatory response without any apparent influx of leukocytes from the blood. The present findings indicate that in cerebral A beta diseases (Alzheimer disease, Down

  2. Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants.

    Science.gov (United States)

    Schleihauf, Julia; Cleuziou, Julie; Pabst von Ohain, Jelena; Meierhofer, Christian; Stern, Heiko; Shehu, Nerejda; Mkrtchyan, Naira; Kaltenecker, Emanuel; Kühn, Andreas; Nagdyman, Nicole; Hager, Alfred; Seidel, Heide; Lange, Rüdiger; Ewert, Peter; Wolf, Cordula M

    2018-03-01

    Surgical septal myectomy is performed to relieve left ventricular outflow tract narrowing in severe drug-refractory obstructive hypertrophic cardiomyopathy. The objective of this study was to assess the perioperative and long-term clinical outcome of this procedure performed during infancy. Clinical, transthoracic echocardiographic, electrocardiographic, 24-h Holter, cardiopulmonary exercise test and genetic data were extracted by medical record review. A subset of patients underwent additional prospective detailed clinical evaluation including cardiac magnetic resonance imaging with contrast. Surgery was performed in 23 paediatric patients between 1978 and 2015 at the German Heart Centre Munich. Twelve patients had undergone surgery during infancy (≤ 1 year) (Group A), 11 between 1 and 18 years of age (Group B). The underlying genetic diagnosis was Noonan syndrome spectrum and non-syndromic hypertrophic cardiomyopathy. As compared to Group B, patients in Group A showed more concomitant cardiac procedures and received more homologous transfusions. One perioperative death occurred in Group A, and none in Group B. Two patients in Group A but no patient in Group B required redo septal myectomy. The long-term clinical outcome was similar between the 2 groups. One patient in Group B required cardioverter-defibrillator/pacemaker implantation for higher degree atrioventricular block and none in Group A. There was no evidence of differences in myocardial fibrosis between groups on long-term follow-up magnetic resonance imaging. Surgical septal myectomy can be performed safely during infancy with favourable perioperative and long-term clinical outcome but with a trend towards a higher reoperation rate later in life. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  3. Lyme disease in Wisconsin: epidemiologic, clinical, serologic, and entomologic findings.

    Science.gov (United States)

    Davis, J P; Schell, W L; Amundson, T E; Godsey, M S; Spielman, A; Burgdorfer, W; Barbour, A G; LaVenture, M; Kaslow, R A

    1984-01-01

    In 1980-82, 80 individuals (71 Wisconsin residents) had confirmed Lyme disease (LD-c) reported; 39 additional patients had probable or possible LD. All cases of LD-c occurred during May-November; 73 percent occurred during June-July; 54 (68 percent) occurred in males. The mean age was 38.7 years (range, 7-77 years). Among LD-c patients, likely exposure to the presumed vector Ixodes dammini (ID) occurred in 22 different Wisconsin counties. Antibodies to the ID spirochete that causes LD occurred in 33 of 49 LD-c cases versus 0 of 18 in ill controls (p less than .001) and in 13 of 26 LD-c cases treated with penicillin or tetracycline versus 16 of 19 LD-c cases not treated. Early antibiotic therapy appears to blunt the antibody response to the ID spirochete. Regional tick surveys conducted in Wisconsin during each November in 1979-82 have demonstrated regions of greater density of ID. Utilizing comparable tick collection in these surveys, increases were noted in the percentage of deer with ID from 24 percent (31/128) in 1979 to 38 percent (58/152) in 1981, in the standardized mean value of ID/deer from 1.0 in 1979 to 2.2 in 1981, in the percentage of ID of the total ticks collected from 13 percent in 1979 to 71 percent in 1981, or in the ratio of ID to Dermacentor albipictus ticks from 0.14 in 1979 to 2.44 in 1981. However, a reduction in the density of ID/deer was noted generally throughout Wisconsin in 1982 when compared to 1981. LD is widespread in Wisconsin, with ecologic and clinical features similar to those occurring along the eastern seaboard.

  4. Pharmacogenetics: progress, pitfalls and clinical potential for coronary heart disease.

    Science.gov (United States)

    Humphries, Steve E; Hingorani, Aroon

    2006-02-01

    Much has been written about the potential of pharmacogenetic testing to inform therapy based on an individual's genetic makeup, and to decide the most effective choice of available drugs, or to avoid dangerous side effects. Currently, there is little hard data for either in the field of cardiovascular disease. The usual approach has been opportunistic use of drug trials in unrelated patients, and to look for differences in response or outcome by "candidate gene" genotype, for example genes coding for drug metabolising enzymes (activators and metabolisers), and enzymes and receptors involved in lipid metabolism, adrenergic response, etc. As with all association studies, initially promising results have often failed the test of replication in larger studies, and the relationship between the CETP Taq-I variant and response to statins has now been disproved. The strongest data to date is the report [Chasman, D.I., Posada, D., Subrahmanyan, L., Cook, N.R., Stanton Jr., V.P., Ridker, P.M., 2004. Pharmacogenetic study of statin therapy and cholesterol reduction. J. Am. Med. Assoc. 291, 2821-2827] of a poorer cholesterol-lowering response to Pravastatin in the 7% of patients carrying a certain haplotype of the HMG CoA reductase gene (14% fall versus 19%), but if this is overcome simply by a higher dose, it is of little clinical relevance. Currently, the best example of avoiding side effects is determining genotype at the CYP2C9 locus with respect of warfarin treatment, since carriers for functional variants (>20% of the population) require lower doses for optimal anticoagulation, and homozygotes, although rare, may well experience serious bleeding if given a usual dose. The full potential of this field will only be realised with much further work.

  5. Reiter′s Disease - Clinical Profile of Epidemic Form

    Directory of Open Access Journals (Sweden)

    H S Girgia

    1980-01-01

    Full Text Available Absence of urethritis need not exclude the possiblity of Reiter′s disease in young males where conjunctivitis and polyarthritis are cardinal features. Appearance of cutaneous lesion early in the course of the disease heralds a poor prognosis specially in the rare epidemic form of the disease. Two cases of Reiter′s disease are reported. Both belonged to the dysentric type of the disease; sometimes ref to as the epidemic form. Relatively high dose of steroids necessary to control symptoms.

  6. Long-term assessment of fatigue in patients with culture-confirmed Lyme disease.

    Science.gov (United States)

    Wormser, Gary P; Weitzner, Erica; McKenna, Donna; Nadelman, Robert B; Scavarda, Carol; Nowakowski, John

    2015-02-01

    Fatigue is a common symptom with numerous causes. Severe fatigue is thought to be an important manifestation of post-treatment Lyme disease syndrome. The frequency with which severe fatigue occurs as a long-term sequela in prospectively followed patients with Lyme disease is unknown. Patients with culture-confirmed Lyme disease who originally presented with erythema migrans have been evaluated annually in a prospective study to determine their long-term outcome. In 2011-2013, subjects were evaluated for fatigue using an 11-item Fatigue Severity Scale (FSS-11) that has been used in studies of post-treatment Lyme disease syndrome. An FSS-11 score of ≥4.0 is indicative of severe fatigue. A total of 100 subjects were assessed, 52% of whom were male; the mean age was 64.9 years (range, 42-86 years). The mean duration of follow-up was 15.4 years (range, 11-20 years). Nine subjects had severe fatigue but in none as a consequence of Lyme disease. Only 3 subjects were thought to possibly have persistent fatigue from Lyme disease. The FSS-11 value for these 3 individuals was less than 4, averaging 2.27, and none had functional impairment. Severe fatigue was found in 9 patients (9%) with culture-confirmed early Lyme disease at 11 to 20 years after presentation, but was due to causes other than Lyme disease. Fatigue of lesser severity was possibly due to Lyme disease, but was found in only 3% of 100 patients, and therefore is rarely a long-term complication of this infection. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. Long-term clinical and bacterial effects of xylitol on patients with fixed orthodontic appliances

    OpenAIRE

    Masoud, Mohamed I.; Allarakia, Reem; Alamoudi, Najlaa M.; Nalliah, Romesh; Allareddy, Veerasathpurush

    2015-01-01

    Background The objective of this study was to evaluate long-term clinical and bacterial effects of using 6 g of xylitol per day for 3 months on patients with full fixed orthodontic appliances. Methods The study was a pilot clinical trial that included 41 subjects who were undergoing orthodontic treatment. The subjects were randomly divided into three groups. Group A received xylitol chewing gum, group B received xylitol dissolvable chewable tablets, and Group C served as the control group and...

  8. Graphospasm - clinical presentation, etiology and the course of disease: Analysis of 30 cases

    Directory of Open Access Journals (Sweden)

    Kačar Aleksandra

    2004-01-01

    Full Text Available INTRODUCTION Dystonia, as prolonged, involuntary muscle contraction, causes torsion, repetitive movements and abnormal body position. In so far only a part of body is affected by dystonic movement, it is the question of focal dystonia, which is called writer's cramp if the arm is involved. OBJECTIVE The objective of the study was to present the specific clinical features of patients with task-specific dystonia, who were diagnosed, treated and followed up at the Institute of Neurology, Clinical Center of Serbia, Belgrade. MATERIAL AND METHODS In the period 1995-2003, 30 patients with task-specific dystonia were treated at the Institute of Neurology, CCS, who met the adopted criteria for diagnosis. The severity of the diseases was tested by estimating the ability of patient to write the test sentence per time unit, as well as by means of scale for measuring different disabilities, ranging from 0-16 (Marsden-Fahn. Depression, anxiety and obsessiveness were tested by Beck's scale, Hamilton's depression and anxiety scale and Mousdly's obsessiveness scale. Thorough questionnaire focused on clinical details was also used. Besides descriptive statistics, data processing included analysis of variance and Kruskal-Wallis's test. RESULTS Thirty patients with diagnosis of task-specific dystonia were analyzed. At the onset of the disease, mean-age was 34.1 years (SD=11.4; 13-58, while the duration of disease at the moment of the examination was 10.3 years (SD=10.6; 1-39. There were 20 males and 10 females (sex ratio 2:1. None of the patients reported any history of trauma of subsequently affected region before the development of discomforts. Twelve patients used their hands for a long time during their professions (writing, playing the instrument, type-writing, etc.. Eight patients were typists (26.6%, four were musicians (13.3%, while the rest of cases (18 had some other occupations that did not necessarily imply long-term use of hands (office worker

  9. Clinical Characteristics and Functional Motor Outcomes of Enterovirus 71 Neurological Disease in Children.

    Science.gov (United States)

    Teoh, Hooi-Ling; Mohammad, Shekeeb S; Britton, Philip N; Kandula, Tejaswi; Lorentzos, Michelle S; Booy, Robert; Jones, Cheryl A; Rawlinson, William; Ramachandran, Vidiya; Rodriguez, Michael L; Andrews, P Ian; Dale, Russell C; Farrar, Michelle A; Sampaio, Hugo

    2016-03-01

    . Focal paresis was evident in 23 of 57 (40%) at presentation and was the most common persisting clinical and functional problem at 12 months (observed in 5 of 6 patients), with 1 patient also requiring invasive ventilation. Patients initially seen with acute flaccid paralysis or pulmonary edema had significantly greater frequencies of motor dysfunction at follow-up compared with patients initially seen with other syndromes (odds ratio, 15; 95% CI, 3-79; P Enterovirus 71 may cause serious neurological disease in young patients. The distinct clinicoradiological syndromes, predominantly within the spinal cord and brainstem, enable rapid recognition within evolving outbreaks. Long-term functional neurological morbidity is associated with paresis linked to involvement of gray matter in the brainstem or spinal cord.

  10. Long-term outcome of laparoscopic and open surgery in patients with Crohn’s disease

    Directory of Open Access Journals (Sweden)

    Hoffmann M

    2017-11-01

    Full Text Available Martin Hoffmann,1 Dina Siebrasse,1 Erik Schlöricke,2 Ralf Bouchard,1 Tobias Keck,1 Claudia Benecke1 1Department of Surgery, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, 2Department of Surgery, Westküstenklinikum Heide, Heide, Germany Aim: To investigate, via data analysis, the long-term outcome of patients who underwent either laparoscopic or open surgery for Crohn’s disease.Methods: A total of 113 patients who had undergone first abdominal surgery due to Crohn’s disease between January 2000 and December 2010 in a maximum care provider facility, were included in the statistical analysis. All patients provided their informed consent prior to inclusion. Data were collected from a database. Follow-up data included data from central mortality registries, general practitioners and a specialized clinic. Statistical analysis of the general patient data and the different operations and approaches were performed with the use of chi-square test, Fisher’s exact test, and the Mann–Whitney U test.Results: The median follow-up period in case of open and laparoscopic surgery was found to be 9 and 6 years, respectively. Statistically significant differences were observed for the following parameters in case of open and laparoscopic surgery, respectively: age (median=44 vs. 36 years, range=15–76 vs. 15–72 years; p=0.007, urgency of operation (23 out of 34 planned vs. 6 out of 70 planned; p<0.001, year of resection (median=2003 vs. 2006, range=2000–2010 vs. 2000–2010; p=0.001. The length of stay in hospital was significantly shorter in the laparoscopic group than that of open surgery group (8 vs. 11 days, respectively; p<0.0001. We did not control for factors such as age and comorbidities in our statistical analysis. We also did not find any differences with regard to perioperative and 90-day mortality, surgical complications, length of specimen, stoma, surgical recurrence rate (10% in both groups and number of re

  11. THE CLINICAL PRESENTATION OF AUTOIMMUNE THYROID DISEASE IN MEN IS ASSOCIATED WITH IL12B GENOTYPE

    DEFF Research Database (Denmark)

    Walsh, John P; Berry, Jemma; Liu, Shu

    2011-01-01

    hypothesized that IL12B genotype may influence the clinical presentation of autoimmune thyroid disease. Objective.  We tested for differences in IL12B genotype between Graves' disease and Hashimoto's disease. Patients.  We studied a discovery cohort of 203 Australian women and 37 men with autoimmune thyroid......' disease (P=0.005) and Hashimoto's disease (P=0.029). Conclusion.  In men with autoimmune thyroid disease, a common variant located upstream of the IL12B coding region may influence whether patients present with Graves' disease or Hashimoto's disease....

  12. Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1?

    OpenAIRE

    Costantini, Antonio; Trevi, Erika; Pala, Maria Immacolata; Fancellu, Roberto

    2016-01-01

    Myotonic dystrophy type 1, also known as Steinert′s disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1) is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and periphe...

  13. Atypical clinical presentation and long-term survival in a patient with optic nerve medulloepithelioma: a case report

    Directory of Open Access Journals (Sweden)

    Pastora-Salvador Natalia

    2012-05-01

    Full Text Available Abstract Introduction Medulloepithelioma is a rare congenital tumor of the primitive medullary neuroepithelium. A significant proportion of patients with medulloepithelioma arising from the optic nerve die from intracranial spread or cerebral metastasis. Because it has no known distinct clinical features and because of its low frequency, this tumor presents within the first two to six years of life and is usually misdiagnosed clinically as a different type of optic nerve tumor. Here, we describe a new and atypical case of medulloepithelioma of the optic nerve in a 12-year-old boy. To the best of our knowledge, he is the oldest reported patient to present with this disease and, now as an adult, has the longest documented period of disease-free survival. Case presentation A 12-year-old Caucasian boy with headache and unilateral amaurosis was referred for a presumed optic nerve glioma to our hospital. A computed tomography scan showed optic nerve enlargement, and fundoscopy showed a whitish mass at the optic disc. Our patient had been followed at his local hospital for four years for an 'optic disc cyst' with no change or progression. He experienced mild progressive visual impairment during that period. He was admitted for resection, and a histopathological analysis revealed a medulloepithelioma of the optic nerve. Supplemental orbital radiotherapy was performed. He remained disease-free for 25 years. Conclusions Medulloepithelioma of the optic nerve can clinically mimic more common pediatric tumors, such as optic glioma, meningioma, or retinoblastoma. Thus, medulloepithelioma should be included in the differential diagnoses of pediatric optic nerve lesions. Fundoscopy in these patients may provide relevant information for diagnosis. Anterior optic nerve medulloepitheliomas may behave differently from and have a better prognosis than medulloepitheliomas that have a more posterior location. Our case report illustrates that long-term survival can be

  14. Contemporary Reflections on the Safety of Long-Term Aspirin Treatment for the Secondary Prevention of Cardiovascular Disease

    Science.gov (United States)

    Fanaroff, Alexander C.; Roe, Matthew T.

    2018-01-01

    Aspirin has been the cornerstone of therapy for the secondary prevention treatment of patients with cardiovascular disease since landmark trials were completed in the late 1970s and early 1980s that demonstrated the efficacy of aspirin for reducing the risk of ischemic events. Notwithstanding the consistent benefits demonstrated with apirin for both acute and chronic cardiovascular disease, there are a number of toxicities associated with aspirin that have been showcased by recent long-term clinical trials that have included an aspirin monotherapy arm. As an inhibitor of cyclooxygenase, aspirin impairs gastric mucosal protective mechanisms. Prior trials have shown that up to 15–20% of patients developed gastrointestinal symptoms with aspirin monotherapy and roughly 1% of patients per year had a clinically significant bleeding event, including 1 in 1000 patients who suffered an intracranial or fatal bleed. These risks have been shown to be compounded for patients with acute coronary syndromes (ACS) and those undergoing percutaneous coronary intervention (PCI), who are also treated with other anti-thrombotic agents during the acute care/procedural period, as well as for an extended time period afterwards. Given observations of substantial increases in bleeding rates from many prior long-term clinical trials that have evaluated aspirin together with other oral platelet inhibitors or oral anti-coagulants, the focus of contemporary research has pivoted towards tailored anti-thrombotic regimens that attempt to either shorten the duration of exposure to aspirin or replace aspirin with an alternative anti-thrombotic agent. While these shifts are occurring, the safety profile of aspirin when used for the secondary prevention treatment of patients with established cardiovascular disease deserves further consideration. PMID:27028617

  15. Safety, Clinical Response, and Microbiome Findings Following Fecal Microbiota Transplant in Children With Inflammatory Bowel Disease.

    Science.gov (United States)

    Goyal, Alka; Yeh, Andrew; Bush, Brian R; Firek, Brian A; Siebold, Leah M; Rogers, Matthew Brian; Kufen, Adam D; Morowitz, Michael J

    2018-01-18

    The role of fecal microbiota transplant (FMT) in the treatment of pediatric inflammatory bowel disease (IBD) is unknown. The aims of this study were to assess safety, clinical response, and gut microbiome alterations in children with Crohn's disease (CD), ulcerative colitis (UC), or indeterminate colitis (IC). In this open-label, single-center prospective trial, patients with IBD refractory to medical therapy underwent a single FMT by upper and lower endoscopy. Adverse events, clinical response, gut microbiome, and biomarkers were assessed at baseline, 1 week, 1 month, and 6 months following FMT. Twenty-one subjects were analyzed, with a median age of 12 years, of whom 57% and 28% demonstrated clinical response at 1 and 6 months post-FMT, respectively. Two CD patients were in remission at 6 months. Adverse events attributable to FMT were mild to moderate and self-limited. Patients prior to FMT showed decreased species diversity and significant microbiome compositional differences characterized by increased Enterobacteriaceae, Enterococcus, Haemophilus, and Fusobacterium compared with donors and demonstrated increased species diversity at 30 days post-FMT. At 6 months, these changes shifted toward baseline. Clinical responders had a higher relative abundance of Fusobacterium and a lower diversity at baseline, as well as a greater shift toward donor-like microbiome after FMT compared with nonresponders. A single FMT is relatively safe and can result in a short-term response in young patients with active IBD. Responders possessed increased Fusobacterium prior to FMT and demonstrated more significant microbiome changes compared with nonresponders after FMT. Microbiome characteristics may help in predicting response. © 2018 Crohn’s & Colitis Foundation of America. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  16. IgG4-RELATED DISEASE. CLINICAL NOTES

    Directory of Open Access Journals (Sweden)

    Vladimir Ivanovich Vasilyev

    2013-01-01

    Full Text Available IgG4-related diseases are a new nosological entity that encompasses a few previously known diseases. IgG4-related systemic disease is diagnosed if two or more affected organs are detected. This group of diseases has two similar signs: serological (elevated serum IgG4 subclass concentrations and histological (organ and tissue infiltration from plasmo-cytes secreting IgG4, and eosinophils, and the development of fibrosclerosis and phlebitis obliterans. The paper describes two cases. In one case, a multisystemic disease was observed virtually at its onset whereas in the other this lesion was diagnosed several years after the natural course of the disease.

  17. Long-term Prognosis in COPD Exacerbation: Role of Biomarkers, Clinical Variables and Exacerbation Type.

    Science.gov (United States)

    Grolimund, Eva; Kutz, Alexander; Marlowe, Robert J; Vögeli, Alaadin; Alan, Murat; Christ-Crain, Mirjam; Thomann, Robert; Falconnier, Claudine; Hoess, Claus; Henzen, Christoph; Zimmerli, Werner; Mueller, Beat; Schuetz, Philipp

    2015-06-01

    Long-term outcome prediction in COPD is challenging. We conducted a prospective 5-7-year follow-up study in patients with COPD to determine the association of exacerbation type, discharge levels of inflammatory biomarkers including procalctionin (PCT), C-reactive protein (CRP), white blood cell count (WBC) and plasma proadrenomedullin (ProADM), alone or combined with demographic/clinical characteristics, with long-term all-cause mortality in the COPD setting. The analyzed cohort comprised 469 patients with index hospitalization for pneumonic (n = 252) or non-pneumonic (n = 217) COPD exacerbation. Five-to-seven-year vital status was ascertained via structured phone interviews with patients or their household members/primary care physicians. We investigated predictive accuracy using univariate and multivariate Cox regression models and area under the receiver operating characteristic curve (AUC). After a median [25th-75th percentile] 6.1 [5.6-6.5] years, mortality was 55% (95%CI 50%-59%). Discharge ProADM concentration was strongly associated with 5-7-year non-survival: adjusted hazard ratio (HR)/10-fold increase (95%CI) 10.4 (6.2-17.7). Weaker associations were found for PCT and no significant associations were found for CRP or WBC. Combining ProADM with demographic/clinical variables including age, smoking status, BMI, New York Heart Association dyspnea class, exacerbation type, and comorbidities significantly improved long-term predictive accuracy over that of the demographic/clinical model alone: AUC (95%CI) 0.745 (0.701-0.789) versus 0.727 (0.681-0.772), (p) = .043. In patients hospitalized for COPD exacerbation, discharge ProADM levels appeared to accurately predict 5-7-year all-cause mortality and to improve long-term prognostic accuracy of multidimensional demographic/clinical mortality risk assessment.

  18. Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.

    Science.gov (United States)

    Zokaei, Nahid; McNeill, Alisdair; Proukakis, Christos; Beavan, Michelle; Jarman, Paul; Korlipara, Prasad; Hughes, Derralynn; Mehta, Atul; Hu, Michele T M; Schapira, Anthony H V; Husain, Masud

    2014-08-01

    Individuals with mutation in the lysosomal enzyme glucocerebrosidase (GBA) gene are at significantly high risk of developing Parkinson's disease with cognitive deficit. We examined whether visual short-term memory impairments, long associated with patients with Parkinson's disease, are also present in GBA-positive individuals-both with and without Parkinson's disease. Precision of visual working memory was measured using a serial order task in which participants observed four bars, each of a different colour and orientation, presented sequentially at screen centre. Afterwards, they were asked to adjust a coloured probe bar's orientation to match the orientation of the bar of the same colour in the sequence. An additional attentional 'filtering' condition tested patients' ability to selectively encode one of the four bars while ignoring the others. A sensorimotor task using the same stimuli controlled for perceptual and motor factors. There was a significant deficit in memory precision in GBA-positive individuals-with or without Parkinson's disease-as well as GBA-negative patients with Parkinson's disease, compared to healthy controls. Worst recall was observed in GBA-positive cases with Parkinson's disease. Although all groups were impaired in visual short-term memory, there was a double dissociation between sources of error associated with GBA mutation and Parkinson's disease. The deficit observed in GBA-positive individuals, regardless of whether they had Parkinson's disease, was explained by a systematic increase in interference from features of other items in memory: misbinding errors. In contrast, impairments in patients with Parkinson's disease, regardless of GBA status, was explained by increased random responses. Individuals who were GBA-positive and also had Parkinson's disease suffered from both types of error, demonstrating the worst performance. These findings provide evidence for dissociable signature deficits within the domain of visual short-term

  19. Clinical and pharmacoeconomic profile of esomeprazole in acid-related diseases

    Directory of Open Access Journals (Sweden)

    Orietta Zaniolo

    2006-09-01

    Full Text Available Protonic pump inhibitors (PPIs are the most prescribed drugs for acute and maintenance therapy of gastroesophageal reflux disease, H. pylori-eradication (in association with antibacterial therapy, for ulcers prevention and cure and, recently, for prevention of NSAIDs-induced gastropathy. The high prevalence of these acid-related disorders induces a large consumption of PPIs; actually, they are the first drug class in terms of National Health Service pharmaceutical expenditure. This widespread and gradually increasing use enforces the need of a rational assessment of their impact on health care resources. This paper provides an updated profile of esomeprazole, the first PPI developed as a pure isomer, which property involves an advantageous metabolism, resulting in enhanced delivery to the proton pump compared with racemic omeprazole. Several studies showed that the success rate for healing reflux esophagitis is greater for esomeprazole than for omeprazole and some other PPIs. According to an Italian pharmacoeconomic model, esomeprazole therapy for erosive esophagitis is associated with higher benefits and lower costs as compared to omeprazole and pantoprazole. For long-term management of non-erosive gastroesophageal reflux disease, on-demand approach with esomeprazole shows clinical outcomes similar to daily treatment regimens, with substantial cost-saving. Furthermore, esomeprazole is the only PPI approved for 1-week triple therapy for both the eradication and the healing of H. pylori-associated duodenal ulcer, while the other PPIs registered the indication for H. pylori-eradication and, separately, a dosing scheme for ulcer healing (independently from etiology.

  20. Periodontal disease and pregnancy hypertension: a clinical correlation.

    Science.gov (United States)

    Pralhad, Swati; Thomas, Betsy; Kushtagi, Pralhad

    2013-08-01

    Periodontal disease is thought to be associated with increased risk of systemic diseases and adverse pregnancy outcomes, including pregnancy hypertension (PH). The aim of the present study is to find the prevalence of periodontal disease in females with PH in a rural-based medical institute. The present case control study was performed with 200 females, 100 with PH and 100 without PH. Antenatal periodontal screening was performed within 72 hours of their hospital admission for delivery. The periodontal parameters assessed were oral hygiene index-simplified, gingival index, mean probing depth, and loss of attachment. Prevalence of periodontal disease was 65.5% and was significantly higher (P periodontal disease and PH on bivariate multiple logistic regression analysis. Nulliparous females were at higher odds to develop periodontal disease and PH (odds ratio = 1.7; 95% CI = 0.5 to 6.1). As the severity of periodontal disease increased from moderate to severe, the severity of hypertension also increased (r(2) = 0.8 and 0.5 for moderate and severe periodontal disease, respectively). Periodontal disease is more prevalent in females with PH.

  1. Myalgic Encephalomyelitis, Chronic Fatigue Syndrome, and Systemic Exertion Intolerance Disease: Three Distinct Clinical Entities

    Directory of Open Access Journals (Sweden)

    Frank N.M. Twisk

    2018-04-01

    Full Text Available Many researchers consider chronic fatigue syndrome (CFS to be a synonym of Myalgic Encephalomyelitis (ME. However, the case criteria of ME and CFS define two distinct clinical entities. Although some patients will meet both case criteria, other patients can meet the diagnosis of ME and not fulfil the case criteria for CFS, while the diagnosis of CFS is largely insufficient to be qualified as a ME patient. ME is a neuromuscular disease with distinctive muscular symptoms, including prolonged muscle weakness after exertion, and neurological signs implicating cerebral dysfunction, including cognitive impairment and sensory symptoms. The only mandatory symptom of CFS is chronic fatigue. Chronic fatigue must be accompanied by at least four out of eight nonspecific symptoms: substantial impairment in short-term memory or concentration, a sore throat, tender lymph nodes, muscle pain, multijoint pain, a new type of headaches, unrefreshing sleep, and postexertional “malaise” lasting more than 24 h. So, regardless whether the name ME is appropriate or not, ME is not synonymous to CFS. That is not a matter of opinion, but a matter of definition. Due to the definitions of ME and CFS, “ME/CFS” does not exist and cannot be replaced by a new clinical entity (SEID: Systemic Exertion Intolerance Disease, as recently suggested.

  2. In utero and early life arsenic exposure in relation to long-term health and disease

    Energy Technology Data Exchange (ETDEWEB)

    Farzan, Shohreh F.; Karagas, Margaret R. [Children' s Environmental Health and Disease Prevention Research Center at Dartmouth, Hanover, NH 03755 (United States); Section of Biostatistics and Epidemiology, Department of Community and Family Medicine and Norris Cotton Cancer Center, Geisel School of Medicine at Dartmouth, Lebanon, NH 03756 (United States); Chen, Yu, E-mail: yu.chen@nyumc.org [Department of Population Health, New York University School of Medicine, New York, NY 10016 (United States)

    2013-10-15

    Background: There is a growing body of evidence that prenatal and early childhood exposure to arsenic from drinking water can have serious long-term health implications. Objectives: Our goal was to understand the potential long-term health and disease risks associated with in utero and early life exposure to arsenic, as well as to examine parallels between findings from epidemiological studies with those from experimental animal models. Methods: We examined the current literature and identified relevant studies through PubMed by using combinations of the search terms “arsenic”, “in utero”, “transplacental”, “prenatal” and “fetal”. Discussion: Ecological studies have indicated associations between in utero and/or early life exposure to arsenic at high levels and increases in mortality from cancer, cardiovascular disease and respiratory disease. Additional data from epidemiologic studies suggest intermediate effects in early life that are related to risk of these and other outcomes in adulthood. Experimental animal studies largely support studies in humans, with strong evidence of transplacental carcinogenesis, atherosclerosis and respiratory disease, as well as insight into potential underlying mechanisms of arsenic's health effects. Conclusions: As millions worldwide are exposed to arsenic and evidence continues to support a role for in utero arsenic exposure in the development of a range of later life diseases, there is a need for more prospective studies examining arsenic's relation to early indicators of disease and at lower exposure levels. - Highlights: • We review in utero and early-life As exposure impacts on lifelong disease risks. • Evidence indicates that early-life As increases risks of lung disease, cancer and CVD. • Animal work largely parallels human studies and may lead to new research directions. • Prospective studies and individual exposure assessments with biomarkers are needed. • Assessing intermediary

  3. In utero and early life arsenic exposure in relation to long-term health and disease

    International Nuclear Information System (INIS)

    Farzan, Shohreh F.; Karagas, Margaret R.; Chen, Yu

    2013-01-01

    Background: There is a growing body of evidence that prenatal and early childhood exposure to arsenic from drinking water can have serious long-term health implications. Objectives: Our goal was to understand the potential long-term health and disease risks associated with in utero and early life exposure to arsenic, as well as to examine parallels between findings from epidemiological studies with those from experimental animal models. Methods: We examined the current literature and identified relevant studies through PubMed by using combinations of the search terms “arsenic”, “in utero”, “transplacental”, “prenatal” and “fetal”. Discussion: Ecological studies have indicated associations between in utero and/or early life exposure to arsenic at high levels and increases in mortality from cancer, cardiovascular disease and respiratory disease. Additional data from epidemiologic studies suggest intermediate effects in early life that are related to risk of these and other outcomes in adulthood. Experimental animal studies largely support studies in humans, with strong evidence of transplacental carcinogenesis, atherosclerosis and respiratory disease, as well as insight into potential underlying mechanisms of arsenic's health effects. Conclusions: As millions worldwide are exposed to arsenic and evidence continues to support a role for in utero arsenic exposure in the development of a range of later life diseases, there is a need for more prospective studies examining arsenic's relation to early indicators of disease and at lower exposure levels. - Highlights: • We review in utero and early-life As exposure impacts on lifelong disease risks. • Evidence indicates that early-life As increases risks of lung disease, cancer and CVD. • Animal work largely parallels human studies and may lead to new research directions. • Prospective studies and individual exposure assessments with biomarkers are needed. • Assessing intermediary endpoints may

  4. Harnessing Cerebrospinal Fluid Biomarkers in Clinical Trials for Treating Alzheimer's and Parkinson's Diseases: Potential and Challenges

    OpenAIRE

    Kim, Dana; Kim, Young-Sam; Shin, Dong Wun; Park, Chang-Shin; Kang, Ju-Hee

    2016-01-01

    No disease-modifying therapies (DMT) for neurodegenerative diseases (NDs) have been established, particularly for Alzheimer's disease (AD) and Parkinson's disease (PD). It is unclear why candidate drugs that successfully demonstrate therapeutic effects in animal models fail to show disease-modifying effects in clinical trials. To overcome this hurdle, patients with homogeneous pathologies should be detected as early as possible. The early detection of AD patients using sufficiently tested bio...

  5. Long term follow-up of Cushing's disease treated with reserpine and pituitary irradiation followed by subtotal adrenalectomy

    International Nuclear Information System (INIS)

    Murayama, Masanori; Yasuda, Keigo; Minamori, Yoshiaki; Mercado-Asis, L.B.; Morita, Hiroyuki; Miura, Kiyoshi; Yamakita, Noriyoshi.

    1994-01-01

    Subtotal adrenalectomy was given to 10 adult patients with Cushing's disease, concurrently with or following therapeutic regimen by long term reserpine administration and pituitary irradiation. In the present study, we describe long term follow-up results. Two patients died after the operation due to acute adrenal crisis and pneumonia, respectively. The other 8 patients achieved clinical and biochemical remissions and were followed for long term. Three patients relapsed 9, 14 or 17 years after achieving remission, two patients developed hypopituitarism 12 or 20 years after and one died of cerebral vascular accident at 64 years, 5 years after the remission. The remaining 2 patients maintained remission for 10 or 18 years, respectively. During the remission periods of 0.5 to 20 years with a mean of 10.1±6.7 years, 6 of 7 patients examined by 1 mg overnight dexamethasone test showed normal suppressibility of plasma cortisol. Provocative tests of plasma GH by 1-arginine infusion and/or insulin-induced hypoglycemia were performed in 6 patients in the early remission period. All of 5 patients in the arginine infusion test and 3 of 5 in the insulin-induced hypoglycemia test showed normal responses. Furthermore, to facilitate prediction of long term response or failure to our therapeutic regimen, long term reserpine administration and pituitary irradiation, pretreatment clinical and biochemical characteristics were analyzed retrospectively in 3 divided groups; the present 10 patients treated with reserpine and pituitary irradiation followed by subtotal adrenalectomy, 11 patients achieving long term remission treated by our regimen alone, and 7 patients failed with our regimen alone. There were no significant factors predictive of response to our regimen. (author)

  6. Bilateral high frequency subthalamic stimulation in Parkinson's disease: long-term neurological follow-up

    NARCIS (Netherlands)

    Romito, L. M.; Scerrati, M.; Contarino, M. F.; Iacoangeli, M.; Bentivoglio, A. R.; Albanese, A.

    2003-01-01

    AIM: High frequency stimulation of the subthalamic nucleus (STN) is gaining recognition as a new symptomatic treatment for Parkinson's disease (PD). The first available long-term observations show the stability of the efficacy of this procedure in time. METHODS: Quadripolar leads were implanted

  7. Short and long term radiation induced cardiovascular disease in patients with cancer

    DEFF Research Database (Denmark)

    Nielsen, Kirsten Melgaard; Offersen, Birgitte Vrou; Nielsen, Hanne Melgaard

    2017-01-01

    Radiation-induced cardiovascular disease is well described as a late effect in cancer patients treated with radiation therapy. Advancements in surgery, radiotherapy, and chemotherapy have led to an increasing number of cancer survivors with resultant long-term side effects related to their cancer...

  8. Impaired Semantic Knowledge Underlies the Reduced Verbal Short-Term Storage Capacity in Alzheimer's Disease

    Science.gov (United States)

    Peters, Frederic; Majerus, Steve; De Baerdemaeker, Julie; Salmon, Eric; Collette, Fabienne

    2009-01-01

    A decrease in verbal short-term memory (STM) capacity is consistently observed in patients with Alzheimer's disease (AD). Although this impairment has been mainly attributed to attentional deficits during encoding and maintenance, the progressive deterioration of semantic knowledge in early stages of AD may also be an important determinant of poor…

  9. Nutritional status and long-term mortality in hospitalised patients with chronic obstructive pulmonary disease (COPD)

    DEFF Research Database (Denmark)

    Hallin, Runa; Gudmundsson, Gunnar; Suppli Ulrik, Charlotte

    2007-01-01

    Patients with chronic obstructive pulmonary disease (COPD) often have difficulties with keeping their weight. The aim of this investigation was to study nutritional status in hospitalised Nordic COPD patients and to investigate the association between nutritional status and long-term mortality in...

  10. Indoor air in long term care facilities and spread of infectious diseases

    NARCIS (Netherlands)

    te Kulve, M.; Loomans, M.G.L.C.; Huisman, E.; Kort, H.S.M.

    2014-01-01

    Not much is known about the favourable indoor air conditions in long term care facilities (ltcf’s), where older adults suffering from dementia live. Due to the decrease in cognition function, it is hard to evaluate comfort and health in this group. Nevertheless, infectious diseases are a persistent

  11. Serum YKL-40 predicts long-term mortality in patients with stable coronary disease

    DEFF Research Database (Denmark)

    Harutyunyan, Marina; Gøtze, Jens P; Winkel, Per

    2013-01-01

    We investigated whether the inflammatory biomarker YKL-40 could improve the long-term prediction of death made by common risk factors plus high-sensitivity C-reactive protein (hs-CRP) and N-terminal-pro-B natriuretic peptide (NT-proBNP) in patients with stable coronary artery disease (CAD)....

  12. Clinical utility of marketing terms used for over-the-counter dermatologic products.

    Science.gov (United States)

    Boozalis, Emily; Patel, Shivani

    2018-05-08

    Cosmetic products are commonly marketed using dermatologic terms such as 'hypoallergenic', 'non-comedogenic', 'fragrance-free', etc. The clinical relevance of these claims can be confusing to both patients and clinicians. A systematic review was performed via a PubMed search of published articles from January 1985 to October 2017 to further describe and elucidate the clinical utility of a predefined list of common dermatologic terms used by pharmaceutical companies to market over-the-counter products. The terms 'fragrance-free', 'hypoallergenic', 'non-comedogenic', and 'oil-free' on cosmetic product labels are not regulated by any governing body and provide varied clinical utility. Products labeled as having 'natural ingredients' are not necessarily safer or less irritating to patients with atopy or a history of allergic contact dermatitis. Despite the increasing popularity of 'paraben-free' cosmetics, parabens are safe for patients in the quantities used in cosmetic products and can be safely used in patients who do not exhibit contact dermatitis to this preservative. A working knowledge of common cosmetic ingredients may help dermatologists to counsel patients on which products to avoid for their specific dermatologic conditions.

  13. Topographical Short-Term Memory Differentiates Alzheimer's Disease From Frontotemporal Lobar Degeneration

    NARCIS (Netherlands)

    Bird, C.M.; Chan, D.; Hartley, T.; Pijnenburg, Y.A.L.; Rossor, M.N.; Burgess, N.

    2010-01-01

    We used a recently developed test of spatial memory-the Four Mountains Test-to investigate the core cognitive processes underpinning topographical disorientation in patients with amnestic mild cognitive impairment (a-MCI) and mild Alzheimer's disease (AD). Performance of these clinical groups was

  14. Prognostic value of clinical and Doppler echocardiographic findings in children and adolescents with significant rheumatic valvular disease

    International Nuclear Information System (INIS)

    Araújo, Fátima Derlene da Rocha; Goulart, Eugênio Marcos Andrade; Meira, Zilda Maria Alves

    2012-01-01

    The diagnosis of acute rheumatic fever (RF) is based on clinical findings. However, during the chronic phase of the disease, the clinical approach is not sufficient for the follow-up of the patients and the Doppler echocardiography is a tool for the diagnosis of cardiac involvement. Prognostic variables that influence long-term outcomes are not well known. 462 patients with RF according to Jones criteria were studied, and followed-up from the initial attack to 13.6 ± 4.6 years. All patients underwent clinical assessment and Doppler echocardiography for the detection of heart valve involvement in the acute and chronic phases. Multivariate logistic regression analysis was used to identify the factors influencing long-term heart valve disease. Carditis occurred in 55.8% and subclinical valvulitis in 35.3% patients. In the chronic phase, 33% of the patients had significant valvular heart disease. No normal Doppler echocardiography exam was observed on patients who had severe valvulitis, although heart auscultation had become normal in 13% of these. In the multivariate analysis, only the severity of carditis and the mitral and/or aortic valvulitis were associated with significant valvular heart disease. Chorea or arthritis were protective factors for significant valvular heart disease, odds ratio 0.41 (95% C.I. 0.22 – 0.77) and 0.43 (95% C.I. 0.23 – 0.82), respectively. Our study suggests that the use of Doppler echocardiography during RF helps to identify prognostic factors regarding the development of significant valvular heart disease. Initial severe carditis is an important factor in the long-term prognosis of chronic RHD, whereas arthritis and chore during the initial episode of RF appears to be protective. Strict secondary prophylaxis should be mandatory in high risk patients

  15. Diseases of poultry in Akure, Nigeria: a ten year analysis of clinical ...

    African Journals Online (AJOL)

    An analysis of poultry diseases diagnosed at the avian clinic of Veterinary Hospital of the Ministry of Agriculture and Natural Resources, Akure, Ondo-State, was carried out using data from 22,927 cases reported at the clinic over a period of ten years. The commonest diseases reported were Newcastle, 9.8%, chronic ...

  16. CHRONIC OBSTRUCTIVE PULMONARY DISEASE: DEFINITION, EPIDEMIOLOGY, PATHOPHYSIOLOGY, CLINICAL PICTURE AND TREATMENT (GOLD 2013

    Directory of Open Access Journals (Sweden)

    M. T. Vatutin

    2015-01-01

    Full Text Available Chronic obstructive pulmonary disease: definition, epidemiology, pathophysiology, clinical picture (GOLD 2013. Vatutin M.T., Smyrnova G.S., Taradin G.G. The represented translation of the new international guidelines (GOLD 2013 reflected the epidemiology, pathophysiology, clinical picture and treatment of chronic obstructive pulmonary disease.

  17. Mapping query terms to data and schema using content based similarity search in clinical information systems.

    Science.gov (United States)

    Safari, Leila; Patrick, Jon D

    2013-01-01

    This paper reports on the issues in mapping the terms of a query to the field names of the schema of an Entity Relationship (ER) model or to the data part of the Entity Attribute Value (EAV) model using similarity based Top-K algorithm in clinical information system together with an extension of EAV mapping for medication names. In addition, the details of the mapping algorithm and the required pre-processing including NLP (Natural Language Processing) tasks to prepare resources for mapping are explained. The experimental results on an example clinical information system demonstrate more than 84 per cent of accuracy in mapping. The results will be integrated into our proposed Clinical Data Analytics Language (CliniDAL) to automate mapping process in CliniDAL.

  18. Long term clinical outcome of peripheral nerve stimulation in patients with chronic peripheral neuropathic pain

    DEFF Research Database (Denmark)

    Calenbergh, F. Van; Gybels, J.; Laere, K. Van

    2009-01-01

    BACKGROUND: Chronic neuropathic pain after injury to a peripheral nerve is known to be resistant to treatment. Peripheral nerve stimulation is one of the possible treatment options, which is, however, not performed frequently. In recent years we have witnessed a renewed interest for PNS. The aim...... of the present study was to evaluate the long-term clinical efficacy of PNS in a group of patients with peripheral neuropathic pain treated with PNS since the 1980s. METHODS: Of an original series of 11 patients, 5 patients could be invited for clinical examination, detailed assessment of clinical pain and QST...... functioning) also showed positive effects. Quantitative Sensory Testing results did not show significant differences in cold pain and heat pain thresholds between the "ON" and "OFF" conditions. CONCLUSION: In selected patients with peripheral neuropathic pain PNS remains effective even after more than 20...

  19. Long-term Mechanical Circulatory Support System reliability recommendation by the National Clinical Trial Initiative subcommittee.

    Science.gov (United States)

    Lee, James

    2009-01-01

    The Long-Term Mechanical Circulatory Support (MCS) System Reliability Recommendation was published in the American Society for Artificial Internal Organs (ASAIO) Journal and the Annals of Thoracic Surgery in 1998. At that time, it was stated that the document would be periodically reviewed to assess its timeliness and appropriateness within 5 years. Given the wealth of clinical experience in MCS systems, a new recommendation has been drafted by consensus of a group of representatives from the medical community, academia, industry, and government. The new recommendation describes a reliability test methodology and provides detailed reliability recommendations. In addition, the new recommendation provides additional information and clinical data in appendices that are intended to assist the reliability test engineer in the development of a reliability test that is expected to give improved predictions of clinical reliability compared with past test methods. The appendices are available for download at the ASAIO journal web site at www.asaiojournal.com.

  20. [Clinical application evaluation of Guidelines for Diagnosis and Treatment of Internal Diseases in Traditional Chinese Medicine].

    Science.gov (United States)

    Han, Xue-Jie; Liu, Meng-Yu; Lian, Zhi-Hua; Wang, Li-Ying; Shi, Nan-Nan; Zhao, Jun

    2017-09-01

    To evaluate the applicability and clinical applications of Guidelines for Diagnosis and Treatment of Internal Diseases in Traditional Chinese Medicine, so as to provide the basis for the revision of the guidelines. This study was completed by the research and promotion base for traditional Chinese medicine(TCM) standard. The methods of applicability evaluation and application evaluation were used in the study. The questionnaires were filled out to evaluate applicability of the guideline, including doctor's familiarity with the guideline,the quality of the guideline, applicable conditions and clinical applications. The prospective case study analysis method was used to evaluate application of the guideline, including evaluation of clinical application compliance and application results(such as clinical effects, safety and economy). There were two parts in the guideline, which were TCM guideline and Western medicine guideline. The results of applicability evaluation showed that there were no obvious differences between TCM guideline and Western medicine guideline in doctor's familiarity with guideline(85.43%, 84.57%) and the use of the guideline(52.10%, 54.47%); the guidelines with good quality, and higher scores in the scope of application and the use of the term rationality(91.94%, 93.35%); the rationality scores of relevant contents in syndrome differentiation and treatment were more than 75%; the applicable conditions were better, and the safety score was the the highest. The comprehensive applicability evaluation showed that the proportion of the application of TCM guideline and Western medicine guideline were 77.73%, 75.46%, respectively. The results of application evaluation showed that there was high degree coincidence between the guideline with its clinical application; except for "other treatment" and "recuperation and prevention" in TCM, other items got high scores which were more than 90%; in the evaluation of application effects, safety of the guideline

  1. Development, validation and clinical assessment of a short questionnaire to assess disease-related knowledge in inflammatory bowel disease patients.

    LENUS (Irish Health Repository)

    Keegan, Denise

    2013-02-01

    Only two inflammatory bowel disease (IBD) knowledge scales are available, both primarily aimed at evaluating the effectiveness of clinical education programs. The aim of this study was to develop and validate a short knowledge questionnaire for clinical and academic research purposes.

  2. The association of neuroleptic sensitivity in Lewy body disease with a false positive clinical diagnosis of Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    Lemstra, A. W.; Schoenmaker, N.; Rozemuller-Kwakkel, A. J. M.; van Gool, W. A.

    2006-01-01

    BACKGROUND: Dementia with Lewy bodies (DLB) and Creutzfeldt-Jakob disease (CJD) share clinical features like cognitive decline, motor disturbances en psychiatric symptoms. Overlapping symptoms may cause physicians to mistake DLB for CJD. METHODS: Clinical data of 12 patients with autopsy-confirmed

  3. Advanced Methods for Clinical Outcome Prediction in Acquired Heart Disease

    NARCIS (Netherlands)

    L.C. Battes (Linda)

    2014-01-01

    markdownabstract__Abstract__ Acquired heart disease, which includes conditions such as coronary artery disease (CAD) and heart failure, continues to pose a large impediment on the individuals that suffer from it as well as on society in general. CAD is the leading cause of death in the

  4. Prions And Prion Diseases | Obi | African Journal of Clinical and ...

    African Journals Online (AJOL)

    Patients also may experience involuntary jerking movements called myoclonus, unusual sensation, insomnia, and confusion or memory problems. In the later stages of the disease, patients may have severe mental impairment (dementia) and may lose the ability to move or speak. Well known prion diseases include scrapie ...

  5. Clinical impact of exercise in patients with peripheral arterial disease.

    Science.gov (United States)

    Novakovic, Marko; Jug, Borut; Lenasi, Helena

    2017-08-01

    Increasing prevalence, high morbidity and mortality, and decreased health-related quality of life are hallmarks of peripheral arterial disease. About one-third of peripheral arterial disease patients have intermittent claudication with deleterious effects on everyday activities, such as walking. Exercise training improves peripheral arterial disease symptoms and is recommended as first line therapy for peripheral arterial disease. This review examines the effects of exercise training beyond improvements in walking distance, namely on vascular function, parameters of inflammation, activated hemostasis and oxidative stress, and quality of life. Exercise training not only increases walking distance and physiologic parameters in patients with peripheral arterial disease, but also improves the cardiovascular risk profile by helping patients achieve better control of hypertension, hyperglycemia, obesity and dyslipidemia, thus further reducing cardiovascular risk and the prevalence of coexistent atherosclerotic diseases. American guidelines suggest supervised exercise training, performed for a minimum of 30-45 min, at least three times per week, for at least 12 weeks. Walking is the most studied exercise modality and its efficacy in improving cardiovascular parameters in patients with peripheral arterial disease has been extensively proven. As studies have shown that supervised exercise training improves walking performance, cardiovascular parameters and quality of life in patients with peripheral arterial disease, it should be encouraged and more often prescribed.

  6. Clinical radiodiagnosis of collagen diseases. Klinicheskaya rentgenodiagnostika kollagenozov

    Energy Technology Data Exchange (ETDEWEB)

    Spasskaya, P A; Bartusevichene, A S

    1988-01-01

    General information about collagen diseases, short history of their theory development are presented; classification is discussed. Pathomorphology of connective tissue and vessels in these diseases is described. Clinicoroentgenologic diagnosis of internal organ and locomotor system injuries in systemic lupus erythemotosus, in sclerodermia systematica, in dermatomyositis in combination with morphological and clinicolabaratory data is analysed in detail. 166 refs.; 85 figs.

  7. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

    NARCIS (Netherlands)

    Deegan, Patrick B.; Moran, Mary Teresa; McFarlane, Ian; Schofield, J. Paul; Boot, Rolf G.; Aerts, Johannes M. F. G.; Cox, Timothy M.

    2005-01-01

    Purpose: Gaucher disease is an exemplary orphan disorder. Enzyme replacement therapy with imiglucerase is effective, but very expensive. To improve the assessment of severity of disease and responses to this costly treatment, we have evaluated several enzymatic biomarkers and a newly-described

  8. Chronic kidney disease: sonographic/clinical findings at the ...

    African Journals Online (AJOL)

    Introduction: Kidney disease arises from various causes which can lead to death, especially if it progresses to chronic renal disease. Some of these patients can be managed by the use of conservative management, drugs, dialysis or renal transplantation depending on several factors. Amongst several investigative methods ...

  9. Clinical epidemiology of long-term suicide risk in a nationwide population-based cohort study in South Korea.

    Science.gov (United States)

    Lee, Hyewon; Myung, Woojae; Lee, Chunsoo; Choi, Junbae; Kim, Ho; Carroll, Bernard J; Kim, Doh Kwan

    2018-05-01

    We investigated the effects of a large range of clinical factors on the long-term risk of suicide in the general population of South Korea. We analyzed the National Health Insurance Service-National Sample Cohort (NHIS-NSC) database in South Korea. A total of 300,232 individuals were followed for up to 12 years. We obtained information on demographic variables (age and sex), lifestyle variables (cigarette smoking, alcohol drinking and exercise), psychiatric and physical disorders, laboratory examination results and physical examination findings. We conducted a competing risk survival analysis to estimate the risk of completed suicide. 725 individuals (241/100,000) died by suicide in the follow-up period. After Bonferroni correction, we found a significant suicide risk associated with 6 variables: Parkinson's disease, depressive disorder, obsessive-compulsive disorder (inverted association), elevated serum aspartate aminotransferase levels, male gender and age. Before Bonferroni correction, variables such as cigarette smoking, heavy alcohol drinking, psychotic disorder, other psychiatric disorder, benzodiazepine use and higher fasting glucose showed some significant association. In addition, body mass index and height were inversely related to completed suicide before Bonferroni correction. However, only the 6 variables listed above were robust predictors of suicide in the fully adjusted analyses with multiple test correction. Common medical conditions had no clear influence on suicide. Diverse clinical factors influenced the long-term risk of completed suicide in this general population sample. Comprehensive assessment of these risk factors will facilitate more focused suicide surveillance measures. Copyright © 2018. Published by Elsevier Ltd.

  10. Short-term outcomes following implementation of a dedicated young adult congenital heart disease transition program.

    Science.gov (United States)

    Vaikunth, Sumeet S; Williams, Roberta G; Uzunyan, Merujan Y; Tun, Han; Barton, Cheryl; Chang, Philip M

    2018-01-01

    Transition from pediatric to adult care is a critical time for patients with congenital heart disease. Lapses in care can lead to poor outcomes, including increased mortality. Formal transition clinics have been implemented to improve success of transferring care from pediatric to adult providers; however, data regarding outcomes remain limited. We sought to evaluate outcomes of transfer within a dedicated transition clinic for young adult patients with congenital heart disease. We performed a retrospective analysis of all 73 patients seen in a dedicated young adult congenital heart disease transition clinic from January 2012 to December 2015 within a single academic institution that delivered pediatric and adult care at separate children's and adult hospitals, respectively. Demographic characteristics including congenital heart disease severity, gender, age, presence of comorbidities, presence of cardiac implantable electronic devices, and type of insurance were correlated to success of transfer. Rate of successful transfer was evaluated, and multivariate analysis was performed to determine which demographic variables were favorably associated with transfer. Thirty-nine percent of patients successfully transferred from pediatric to adult services during the study period. Severe congenital heart disease (OR 4.44, 95% CI 1.25-15.79, P = .02) and presence of a cardiac implantable electronic device (OR 4.93, 95% CI 1.18-20.58, P = .03) correlated with transfer. Trends favoring successful transfer with presence of comorbidities and private insurance were also noted. Despite a dedicated transition clinic, successful transfer rates remained relatively low though comparable to previously published rates. Severity of disease and presence of implantable devices correlated with successful transfer. Other obstacles to transfer remain and require combined efforts from pediatric and adult care systems, insurance carriers, and policy makers to improve transfer outcomes.

  11. Clinical approach to kidney disease in kidney recipients in Spain

    Directory of Open Access Journals (Sweden)

    Josep M. Campistol

    2015-05-01

    Conclusions: Secondary markers and factors resulting in CKD progression, particularly anemia, are still frequently uncontrolled after kidney transplantation. Only about 2% of patients benefit from a therapeutic intervention based on a biopsy. Clinical perception differs from objective measures, which results in an obvious clinical inertia regarding risk factor control in such patients.

  12. Clinical pharmacology in leishmaniasis: treatment optimization of a neglected disease

    NARCIS (Netherlands)

    Dorlo, T.P.C.

    2013-01-01

    This thesis presents various novel applications of clinical pharmacokinetics and pharmacodynamics in the treatment of leishmaniasis, by which diverse clinically relevant issues, mainly related to the efficacy and safety of miltefosine, could be elucidated. Throughout this thesis, the added value of

  13. Iron deficiency and neurologic disease in children | Chiabi | Clinics ...

    African Journals Online (AJOL)

    Iron deficiency is a frequent disorder and a public health problem especially in children and pregnant women. The clinical manifestations are varied, and the most dreaded are neurologic. These neurologic manifestations are often missed as differential diagnosis in current clinical practice. The authors review iron ...

  14. Late complications of clinical clostridium histolyticum collagenase use in Dupuytren's disease.

    Directory of Open Access Journals (Sweden)

    Warren M Rozen

    Full Text Available INTRODUCTION: While Dupuytren's disease can cause disabling contractures requiring open surgery, a less-invasive option using Clostridium Histolyticum collagenase (CHC via percutaneous injection was recently reported. A recent prospective, randomized trial demonstrated few complications during 90 days follow-up, however did not assess any longer term follow-up for these patients. Long-term outcomes in this setting have not been adequately reported, and the current manuscript aims to identify late complications from the clinical use of percutaneous CHC. METHODS: The current manuscript reports an extended 12-month follow-up for a cohort of twelve of patients enrolled in the original prospective, randomized trial, treated at a single institution. An analysis of complications requiring surgical intervention was undertaken. RESULTS: Two of twelve patients reported debilitating pain and triggering requiring surgical intervention. Extensive deep-tissue scarring and adhesions were identified, providing the first visual and qualitative analysis of the pathologic effects of CHC. CONCLUSION: Late complications from CHC use can and have occurred, outside the follow-up period of the initial phase III trials. Longer term follow-up of such patients is thus essential, and further investigation and characterization of the late effects of CHC use is warranted.

  15. Heart diseases and long-term risk of dementia and Alzheimer's disease: a population-based CAIDE study.

    Science.gov (United States)

    Rusanen, Minna; Kivipelto, Miia; Levälahti, Esko; Laatikainen, Tiina; Tuomilehto, Jaakko; Soininen, Hilkka; Ngandu, Tiia

    2014-01-01

    Many cardiovascular risk factors are shown to increase the risk of dementia and Alzheimer's disease (AD), but the impact of heart disease on later development of dementia is still unclear. The aim of the study was to investigate the long-term risk of dementia and Alzheimer's disease (AD) related to midlife and late-life atrial fibrillation (AF), heart failure (HF), and coronary artery disease (CAD) in a population-based study with a follow-up of over 25 years. Cardiovascular Risk Factors, Aging and Dementia (CAIDE) study includes 2000 participants who were randomly selected from four separate, population-based samples originally studied in midlife (1972, 1977, 1982, or 1987). Re-examinations were carried out in 1998 and 2005-2008. Altogether 1,510 (75.5%) persons participated in at least one re-examination, and 127 (8.4%) persons were diagnosed with dementia (of which 102 had AD). AF in late-life was an independent risk factor for dementia (HR 2.61, 95% CI 1.05-6.47; p = 0.039) and AD (HR 2.54, 95% CI 1.04-6.16; p = 0.040) in the fully adjusted analyses. The association was even stronger among the apolipoprotein E (APOE) ε4 non-carriers. Late-life HF, but not CAD, tended to increase the risks as well. Heart diseases diagnosed at midlife did not increase the risk of later dementia and AD. Late-life heart diseases increase the subsequent risk of dementia and AD. Prevention and effective treatment of heart diseases may be important also from the perspective of brain health and cognitive functioning.

  16. Clinical features of Parkinson’s disease with and without rapid eye movement sleep behavior disorder