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  1. EMOTIONAL REACTIONS TO PAIN PREDICT PSYCHOLOGICAL DISTRESS IN ADULT PATIENTS WITH SICKLE CELL DISEASE (SCD)

    Science.gov (United States)

    EDWARDS, CHRISTOPHER L.; KILLOUGH, ALVIN; WOOD, MARY; DOYLE, TODD; FELIU, MIRIAM; BARKER, CAMELA S.; UPPAL, PRIYANKA; DeCASTRO, LAURA; WELLINGTON, CHANTÉ; WHITFIELD, KEITH E.; TRAMBADIA, JAY; GUINYARD, DARIENE; MUHAMMAD, MALIK; O’GARO, KEISHA-GAYE N.; MORGAN, KAI; EDWARDS ALESII, LEKISHA Y.; BYRD, GOLDIE S.; McCABE, MELANIE; GOLI, VEERAINDAR; KEYS, ABIGAIL; HILL, LABARRON; COLLINS-McNEIL, JANICE; McDONALD, PATRICIA; SCHMECHEL, DONALD E.; ROBINSON, ELWOOD

    2015-01-01

    Differentiating somatic from emotional influences on the experience of chronic pain has been of interest to clinicians and researchers for many years. Although prior research has not well specified these pathways at the anatomical level, some evidence, both theoretical and empirical, suggest that emotional reactions influence the experience of disease and non-disease-related pains. Other studies suggest that treatments directed at negative emotional responses reduce suffering associated with pain. The current study was conducted to explore the influence of emotional reactions to pain as a predictor of psychological distress in a sample of adult Blacks with Sickle Cell Disease (SCD). Using cross-sectional survey data, we evaluated whether negative emotional reactions to the experience of pain were predictive of psychological distress after controlling for the somatic dimension of pain and age in n = 67 Black patients with Sickle Cell Disease (SCD). Results showed that greater negative emotion associated with pain predicted Somatization (p < .01), Anxiety (p < .05), Phobic Anxiety (p < .05), and Psychoticism (p < .05). Increased negative emotion associated with pain was also predictive of the General Symptoms Index (p < .05) and the Positive Symptoms Total from the SCL-90-R (p < .01). We believe the current study demonstrates that negative emotional reactions to the experience of pain in adults with SCD are predictive of psychological distress above and beyond the influences of age and the direct nociceptive experience. We also believe these data to be valuable in conceptualizing the allocation of treatment resources toward a proactive approach with early identification of patients who are responding poorly for the purpose of potentially reducing later psychopathology. A deeper understanding of the ways that subpopulations cope with chronic disease-related pain may produce models that can be ultimately generalized to the consumers of the majority of healthcare

  2. Emotional reactions to pain predict psychological distress in adult patients with Sickle Cell Disease (SCD).

    Science.gov (United States)

    Edwards, Christopher L; Killough, Alvin; Wood, Mary; Doyle, Todd; Feliu, Miriam; Barker, Camela S; Uppal, Priyanka; DeCastro, Laura; Wellington, Chante; Whitfield, Keith E; O'Garo, Keisha-Gaye N; Morgan, Kai; Edwards Alesii, Lekisha Y; Byrd, Goldie S; McCabe, Melanie; Goli, Veeraindar; Keys, Abigail; Hill, Labarron; Collins-McNeil, Janice; Trambadia, Jay; Guinyard, Dariene; Muhammad, Malik; McDonald, Patricia; Schmechel, Donald E; Robinson, Elwood

    2014-01-01

    Differentiating somatic from emotional influences on the experience of chronic pain has been of interest to clinicians and researchers for many years. Although prior research has not well specified these pathways at the anatomical level, some evidence, both theoretical and empirical, suggest that emotional reactions influence the experience of disease and non-disease-related pains. Other studies suggest that treatments directed at negative emotional responses reduce suffering associated with pain. The current study was conducted to explore the influence of emotional reactions to pain as a predictor of psychological distress in a sample of adult Blacks with Sickle Cell Disease (SCD). Using cross-sectional survey data, we evaluated whether negative emotional reactions to the experience of pain were predictive of psychological distress after controlling for the somatic dimension of pain and age in n = 67 Black patients with Sickle Cell Disease (SCD). Results showed that greater negative emotion associated with pain predicted Somatization (p emotion associated with pain was also predictive of the General Symptoms Index (p emotional reactions to the experience of pain in adults with SCD are predictive of psychological distress above and beyond the influences of age and the direct nociceptive experience. We also believe these data to be valuable in conceptualizing the allocation of treatment resources toward a proactive approach with early identification of patients who are responding poorly for the purpose of potentially reducing later psychopathology. A deeper understanding of the ways that subpopulations cope with chronic disease-related pain may produce models that can be ultimately generalized to the consumers of the majority of healthcare resources.

  3. Circulating sCD36 levels in patients with non-alcoholic fatty liver disease and controls

    DEFF Research Database (Denmark)

    Heebøll, S; Poulsen, M K; Ornstrup, M J

    2017-01-01

    BACKGROUND AND OBJECTIVE: CD36 is implicated in fatty acid uptake in multiple tissues, including hepatocytes and adipocytes. Circulating CD36 (sCD36) is increased in non-alcoholic fatty liver disease (NAFLD).We explored this association further by investigating correlations between sCD36 levels....... An unhealthy and unbalanced CD36 expression in adipose and hepatic tissue may shift the fatty acid load to the liver.Clinical Trials.gov (NCT01464801, NCT01412645, NCT01446276).International Journal of Obesity accepted article preview online, 05 December 2016. doi:10.1038/ijo.2016.223....... resonance imaging (n=94, subcutaneous and visceral adipose tissue) and liver biopsy (n=28 NAFLD patients) performed. Plasma sCD36 was assessed by ELISA. RESULTS: NAFLD patients had elevated sCD36 levels compared to controls (0.68 (0.12-2.27) versus 0.43 (0.10-1.18), P

  4. Hemoglobin Variants Acquired Post-Exchange Transfusion in Pediatric Sickle Cell Disease (SCD) Patients.

    Science.gov (United States)

    Pandey, Soumya; Cottler-Fox, Michele; Drobena, Gina

    2015-01-01

    Many SCD patients receive chronic transfusions for prevention or treatment of disease related complications. Complications of the chronic transfusion noted in these patients include allergic reactions, transfusion transmitted infections, iron overload, and alloantibody formation. Even though hemoglobin (Hb) variants are prevalent in the general population, reports of transfusion-acquired Hb variants are rare. We performed a retrospective analysis on all SCD patients who underwent red cell exchange (RBCEx) transfusions at our institution during 2011-2013 to identify the presence of Hb variants acquired as a result of RBCEx. We found 66 occurrences of acquired Hb variants in 30 SCD patients during the period examined. The most commonly acquired Hb variant was Hemoglobin C (HbC) (64/66 occurrences). More than half of the patients (19/30) acquired HbC on multiple occasions (2-6 times). One patient acquired HbJ and another patient acquired HbD/G in addition to HbC. The segments from donor units were available in some of these cases and hemoglobin electrophoresis (HBE) was performed to confirm the presence of the variant Hb in the donor segments corresponding to that seen on the post-RBCEx sample. Heterozygous donors are asymptomatic and show no abnormalities during donor screening. Since HBE is not routinely performed on the donor specimen, it may go unrecognized until the post-transfusion recipient results pose diagnostic difficulties. There are no definitive guidelines on deferring these donors; hence one should be cognizant of these findings to prevent misdiagnosis. In a population where HbS negative blood is routinely requested, the effect of other Hb variants remains unknown. None of the patients in our study showed any adverse events due to the acquired Hb variants; however, this is of special concern in the pediatric population where a single RBC unit can contribute a significant portion of the exchanged blood volume. Additionally, donor centers may need

  5. Bone Marrow as a Hematopoietic Stem Cell Source for Gene Therapy in Sickle Cell Disease: Evidence from Rhesus and SCD Patients.

    Science.gov (United States)

    Uchida, Naoya; Fujita, Atsushi; Hsieh, Matthew M; Bonifacino, Aylin C; Krouse, Allen E; Metzger, Mark E; Donahue, Robert E; Tisdale, John F

    2017-09-01

    Steady state bone marrow (BM) is the preferred hematopoietic stem cell (HSC) source for gene therapy in sickle cell disease (SCD) due to the recognized risk of vaso-occlusive crisis during granulocyte colony-stimulating factor mobilization. We previously established clinically relevant HSC gene transfer in the rhesus model following transplantation of mobilized peripheral blood (PB) CD34 + cells transduced with lentiviral vectors. In this study, we examined steady state bone marrow (BM) in the rhesus competitive repopulation model and demonstrate similar gene marking in vitro and in vivo, as compared with mobilized PB CD34 + cells. We then evaluated PB and steady state BM in subjects with SCD and observed a higher frequency of CD34 + cells when compared with controls, likely due to enhanced hematopoiesis. However, CD34 + cell counts were reduced in both the PB and BM in patients treated with hydroxyurea, and hydroxyurea treatment strongly inhibited iPS cell generation from SCD subjects. Our data support that steady state BM is a useful HSC source for SCD gene therapy with similar transduction. The lower CD34 + percentages observed with hydroxyurea treatment warrants withholding hydroxyurea temporarily prior to harvesting HSCs. Our results are important for the design of gene targeting strategies for SCD.

  6. The soluble transcobalamin receptor (sCD320) in relation to Alzheimer's disease and cognitive scores

    DEFF Research Database (Denmark)

    Abuyaman, Omar; Combrinck, Marc; Smith, A David

    2017-01-01

    The soluble transcobalamin receptor (sCD320) is present in cerebrospinal fluid and correlates with the dementia-related biomarkers phospho-tau and total-tau. Here we present data on the relation of sCD320 to Alzheimer's disease and scores of cognitive tests. Lumbar cerebrospinal fluid samples from...... 42 pathologically-confirmed cases of Alzheimer's disease and 25 non-demented controls were analyzed for sCD320 employing an in-house ELISA. The participants' cognitive functions were tested using the Cambridge Cognition Examination (CAMCOG) and the Mini-Mental State Examination (MMSE...... be employed as a biomarker for differentiating Alzheimer dementia patients from controls. Further studies are warranted to explore the non-linear correlations between sCD320 and scores of cognitive function....

  7. Spinal Cord Dysfunction (SCD)

    Data.gov (United States)

    Department of Veterans Affairs — The Spinal Cord Dysfunction (SCD) module supports the maintenance of local and national registries for the tracking of patients with spinal cord injury and disease...

  8. Symptomatic Avascular Necrosis: An Understudied Risk Factor for Acute Care Utilization by Patients with SCD

    Science.gov (United States)

    Yu, Tiffany; Campbell, Timothy; Ciuffetelli, Isabella; Haywood, Carlton; Carroll, C. Patrick; Resar, Linda M.S.; Strouse, John J.; Lanzkron, Sophie

    2016-01-01

    Objectives Sickle cell disease (SCD) is associated with high healthcare utilization rates and poor outcomes in a subset of patients, although the underlying factors that predict this phenotype are poorly understood. Prior studies suggest that comorbid avascular necrosis (AVN) contributes to high healthcare utilization. We sought to clarify whether AVN independently predicts acute care utilization in adults with SCD and to identify characteristics of those with AVN that predict higher utilization. Methods We reviewed the medical records of 87 patients with SCD with symptomatic AVN and compared acute care utilization and clinical characteristics with 87 sex- and age-matched patients with SCD without symptomatic AVN. Patients with ≥2 years of follow-up were included. Outcomes were compared using bivariate analysis and multivariate regression. Results Our study included 1381 follow-up years, with a median of 7 years per patient. The AVN cohort had greater median rates of urgent care visits (3.2/year vs 1.3/year; P = 0.0155), admissions (1.3/year vs 0.4/year; P = 0.0002), and admission days (5.1 days/year vs 1.8 days/year; P = 0.0007). History of high utilization (odds ratio [OR] 4.28; P = 0.001), acute chest syndrome (OR 3.12; P = 0.005), pneumonia (OR 3.20; P = 0.023), hydroxyurea therapy (OR 2.23; P = 0.0136), and long-term transfusion (OR 2.33; P = 0.014) were associated with AVN. In a median regression model, AVN, acute chest syndrome, and pneumonia were independently associated with greater urgent care visits and admissions. Conclusions Symptomatic AVN was found to be an independent risk factor for acute care utilization in patients with SCD. Because this is a potentially modifiable factor, further studies are urgently needed to determine whether AVN prevention/early treatment interventions will alter utilization and improve outcomes for patients with SCD. PMID:27598353

  9. Macrophage-related serum biomarkers soluble CD163 (sCD163) and soluble mannose receptor (sMR) to differentiate mild liver fibrosis from cirrhosis in patients with chronic hepatitis C

    DEFF Research Database (Denmark)

    Andersen, E S; Rødgaard-Hansen, S; Moessner, B

    2014-01-01

    Macrophages regulate the fibrotic process in chronic liver disease. The aim of the present pilot study was to evaluate two new macrophage-specific serum biomarkers [soluble CD163 (sCD163) and soluble mannose receptor (sMR, sCD206)] as potential fibrosis markers in patients chronically infected...... is shed to serum by the same mechanism as sCD163 (r = 0.40, p macrophage-related markers sCD163 and sMR are significantly higher in patients chronically infected with HCV and with cirrhosis than in those with no/mild fibrosis. sCD163 is a promising new fibrosis marker...

  10. Circulating sCD138 and Some Angiogenesis-Involved Cytokines Help to Anticipate the Disease Progression of Early-Stage B-Cell Chronic Lymphocytic Leukemia

    Directory of Open Access Journals (Sweden)

    2006-01-01

    Full Text Available Syndecan-1 (CD138 is a transmembrane heparin sulfate proteoglycan expressed on distinct stages of differentiation of B-lymphoid cells. Its prognostic value in B-cell chronic lymphocytic leukemia (B-CLL has not been evaluated so far. The serum concentration of sCD138 and some angiogenesis-involved cytokines: vascular endothelial growth factor (VEGF, basis fibroblast growth factor (bFGF, and endostatin were studied in 52 previously untreated patients with B-CLL. We found that bFGF and sCD138 levels were significantly higher in B-CLL patients than in controls. In patients with sCD138 level or endostatin level below the median value the lymphocyte count was higher than in patients with serum level of those cytokines above the median value. In patients with progressive disease bFGF level was significantly higher and sCD138 level significantly lower than in patients with stable one. Moreover, high sCD138 level was associated with longer lymphocyte doubling-free survival, and, on the limit of statistical significance, a high endostatin level was associated with shorter progression-free survival. We conclude that serum sCD138 level is increased in early stage B-CLL patients and may have a positive prognostic value as to the dynamics of the disease.

  11. Clinical significance of sCD86 levels in patients with acute ...

    African Journals Online (AJOL)

    The aim: The present study was to assess levels of sCD86 in de novo acute myeloid leukemia patients and to determine any possible correlation with outcome following induction chemotherapy. The study was carried out on 30 patients with de novo acute myeloid leukemia and 20 healthy controls. Method: Levels of soluble ...

  12. Clinical significance of sCD86 levels in patients with acute ...

    African Journals Online (AJOL)

    Nahla Hamed

    2011-06-12

    Jun 12, 2011 ... hematopoietic stem cell disorders that result from genetic alter- ... the TCR and CD28 bind to their ligands at the same time, their .... and sex matched. Levels of sCD86 were determined in AML patients, levels were measured again after the first cycle of induction chemo- therapy for follow up in an attempt to ...

  13. Reduced sTWEAK and increased sCD163 levels in HIV-infected patients: modulation by antiretroviral treatment, HIV replication and HCV co-infection.

    Directory of Open Access Journals (Sweden)

    Luis M Beltrán

    Full Text Available Patients infected with the human immunodeficiency virus (HIV have an increased risk of cardiovascular disease due to increased inflammation and persistent immune activation. CD163 is a macrophage scavenger receptor that is involved in monocyte-macrophage activation in HIV-infected patients. CD163 interacts with TWEAK, a member of the TNF superfamily. Circulating levels of sTWEAK and sCD163 have been previously associated with cardiovascular disease, but no previous studies have fully analyzed their association with HIV.The aim of this study was to analyze circulating levels of sTWEAK and sCD163 as well as other known markers of inflammation (hsCRP, IL-6 and sTNFRII and endothelial dysfunction (sVCAM-1 and ADMA in 26 patients with HIV before and after 48 weeks of antiretroviral treatment (ART and 23 healthy subjects.Patients with HIV had reduced sTWEAK levels and increased sCD163, sVCAM-1, ADMA, hsCRP, IL-6 and sTNFRII plasma concentrations, as well as increased sCD163/sTWEAK ratio, compared with healthy subjects. Antiretroviral treatment significantly reduced the concentrations of sCD163, sVCAM-1, hsCRP and sTNFRII, although they remained elevated when compared with healthy subjects. Antiretroviral treatment had no effect on the concentrations of ADMA and sTWEAK, biomarkers associated with endothelial function. The use of protease inhibitors as part of antiretroviral therapy and the presence of HCV-HIV co-infection and/or active HIV replication attenuated the ART-mediated decrease in sCD163 plasma concentrations.HIV-infected patients showed a proatherogenic profile characterized by increased inflammatory, immune-activation and endothelial-dysfunction biomarkers that partially improved after ART. HCV-HIV co-infection and/or active HIV replication enhanced immune activation despite ART.

  14. Exploring the link between innate immune activation and thymic function by measuring sCD14 and TRECs in HIV patients living in Belgium.

    Directory of Open Access Journals (Sweden)

    Adrien De Voeght

    Full Text Available Microbial translocation is now viewed as a central event in the pathogenesis of chronic inflammation during HIV infection. Thymic function failure is another crucial factor involved in HIV disease progression. The goal of this study was to explore the hypothesis of potential links between microbial translocation and thymic function in HIV-1 patients living in Belgium. The extent of microbial translocation was assessed through the measurement of soluble CD14 (sCD14. T-cell receptor excision circles (sjTRECs and dβTRECs were used as a measure of thymic function. Data were collected from 75 HIV-infected patients. Simple and complex linear regressions were done to analyze the link between these two processes. We found a statistically relevant negative correlation between thymopoiesis (sjTREC and sCD14 level (p = 0.004. These results suggest a link between thymic function failure, microbial translocation and innate immune activation.

  15. Reduced Plasma Levels of sCD14 and I-FABP in HIV-infected Patients with Mesalazine-treated Ulcerative Colitis.

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    Michelini, Zuleika; Baroncelli, Silvia; Fantauzzi, Alessandra; Pasquale, Chiara; Galluzzo, Clementina Maria; Sanchez, Massimo; Gatto, Manuela; Amici, Roberta; Franco, Marina; d'Ettorre, Gabriella; Fimiani, Caterina; Mezzaroma, Ivano; Vullo, Vincenzo; Merli, Manuela; Palmisano, Lucia

    2016-03-01

    Microbial translocation (MT) is a shared feature of HIV infection and inflammatory bowel disease (IBD). This study was conducted to assess the impact of IBD (and particularly ulcerative colitis, UC) on plasma markers of MT and immune activation in HIV+ subjects. A cross-sectional study was conducted in 3 groups of patients: HIV+/UC+(group HIV/UC); HIV+/UC- (group HIV); HIV-/UC+(group UC). Plasma levels of soluble CD14 (sCD14), intestinal fatty acid-binding protein (I-FABP), and endotoxin core antibodies (endoCAB) were measured as plasma markers of MT. Inflammation and immune activation were evaluated by measuring plasma levels of IL-6, IL-21, TNF-alpha, and high-sensitivity C-reactive protein (hs-CRP). T- and B-cells subpopulations were characterized by FACS analysis. Seven patients were enrolled in group HIV/UC, 9 in HIV, and 10 in UC. All HIV-positive patients had plasma values of HIV-1 RNAUC were treated with oral mesalazine. Markers of MT, immune activation, and inflammation were not increased in subjects with HIV/UC. In fact, they had lower levels of I-FABP (p=0.001) and sCD14 (p=0.007) when compared to other patients groups. Positive correlations were found between I-FABP and sCD14 (r=.355, p=0.076). Frequency of T- and B-cell subsets did not differ among groups. Our results suggest that UC does not worsen MT, inflammation, or immune activation in HIV-infected subjects. The anti-inflammatory activity of chronic mesalazine administration on intestinal mucosa may contribute to this finding.

  16. [Predicting value of 2014 European guidelines risk prediction model for sudden cardiac death (HCM Risk-SCD) in Chinese patients with hypertrophic cardiomyopathy].

    Science.gov (United States)

    Li, W X; Liu, L W; Wang, J; Zuo, L; Yang, F; Kang, N; Lei, C H

    2017-12-24

    Objective: To evaluate the predicting value of the 2014 European Society of Cardiology (ESC) guidelines risk prediction model for sudden cardiac death (HCM Risk-SCD) in Chinese patients with hypertrophic cardiomyopathy (HCM), and to explore the predictors of adverse cardiovascular events in Chinese HCM patients. Methods: The study population consisted of a consecutive 207 HCM patients admitted in our center from October 2014 to October 2016. All patients were followed up to March 2017. The 5-year SCD probability of each patient was estimated using HCM Risk-SCD model based on electrocardiogram, echocardiography and cardiac magnetic resonance (CMR) examination results. The primary, second, and composite endpoints were recorded. The primary endpoint included SCD and appropriate ICD therapy, identical to the HCM Risk-SCD endpoint. The second endpoint included acute myocardial infarction, hospitalization for heart failure, thrombus embolism and end-stage HCM. The composite endpoint was either the primary or the second endpoint. Patients were divided into the 3 categories according to 5-year SCD probability assessed by HCM Risk-SCD model: low risk grouprisk group ≥4% torisk group≥6%. Results: (1) Prevalence of endpoints: All 207 HCM patients completed the follow-up (350 (230, 547) days). During follow-up, 8 (3.86%) patients reached the primary endpoints (3 cases of SCD, 3 cases of survival after defibrillation, and 2 cases of appropriate ICD discharge); 21 (10.14%) patients reached the second endpoints (1 case of acute myocardial infarction, 16 cases of heart failure hospitalization, 2 cases of thromboembolism, and 2 cases of end-stage HCM). (2) Predicting value of HCM Risk-SCD model: Patients with primary endpoints had higher prevalence of syncope and intermediate-high risk of 5-year SCD, as compared to those without primary endpoints (both Pvalue of HCM Risk-SCD model: The low risk group included 122 patients (59%), the intermediate risk group 42 (20%), and the

  17. Effects of insulin on glucose uptake and leg blood flow in patients with sickle cell disease and normal subjects

    NARCIS (Netherlands)

    ter Maaten, JC; Serne, EH; Bakker, SJL; van Eps, WS; Donker, AJM; Gans, ROB

    The hemodynamic concept of insulin resistance assumes that vasodilatory effects of insulin determine glucose uptake. Sickle cell disease (SCD) is characterized by microangiopathy and microvascular occlusion. Therefore, we hypothesized that patients with SCD have a reduced insulin-mediated glucose

  18. Sudden cardiac death in non-dialysis chronic kidney disease patients

    Directory of Open Access Journals (Sweden)

    Francisco Caravaca

    2016-07-01

    Conclusions: SCD is relatively common in non-dialysis advanced CKD patients. SCD was closely related to age and comorbidity, and some indirect data from this study suggest that unrecognized or undertreated cardiovascular disease may predispose to a higher risk of SCD.

  19. Impaired Functions of Macrophage from Cystic Fibrosis Patients: CD11b, TLR-5 Decrease and sCD14, Inflammatory Cytokines Increase

    Science.gov (United States)

    Simonin-Le Jeune, Karin; Le Jeune, André; Jouneau, Stéphane; Belleguic, Chantal; Roux, Pierre-François; Jaguin, Marie; Dimanche-Boitre, Marie-Thérèse; Lecureur, Valérie; Leclercq, Caroline; Desrues, Benoît; Brinchault, Graziella; Gangneux, Jean-Pierre; Martin-Chouly, Corinne

    2013-01-01

    Background Early in life, cystic fibrosis (CF) patients are infected with microorganisms. The role of macrophages has largely been underestimated in literature, whereas the focus being mostly on neutrophils and epithelial cells. Macrophages may however play a significant role in the initiating stages of this disease, via an inability to act as a suppressor cell. Yet macrophage dysfunction may be the first step in cascade of events leading to chronic inflammation/infection in CF. Moreover, reports have suggested that CFTR contribute to altered inflammatory response in CF by modification of normal macrophage functions. Objectives In order to highlight possible intrinsic macrophage defects due to impaired CFTR, we have studied inflammatory cytokines secretions, recognition of pathogens and phagocytosis in peripheral blood monocyte-derived macrophages from stable adult CF patients and healthy subjects (non-CF). Results In CF macrophage supernatants, concentrations of sCD14, IL-1β, IL-6, TNF-α and IL-10 were strongly raised. Furthermore expression of CD11b and TLR-5 were sorely decreased on CF macrophages. Beside, no difference was observed for mCD14, CD16, CD64, TLR-4 and TLR1/TLR-2 expressions. Moreover, a strong inhibition of phagocytosis was observed for CF macrophages. Elsewhere CFTR inhibition in non-CF macrophages also led to alterations of phagocytosis function as well as CD11b expression. Conclusions Altogether, these findings demonstrate excessive inflammation in CF macrophages, characterized by overproduction of sCD14 and inflammatory cytokines, with decreased expression of CD11b and TLR-5, and impaired phagocytosis. This leads to altered clearance of pathogens and non-resolution of infection by CF macrophages, thereby inducing an exaggerated pro-inflammatory response. PMID:24098711

  20. The macrophage activation marker sCD163 combined with markers of the Enhanced Liver Fibrosis (ELF) score predicts clinically significant portal hypertension in patients with cirrhosis

    DEFF Research Database (Denmark)

    Sandahl, T D; McGrail, R; Møller, H J

    2016-01-01

    analyses improved the AUROC to 0.91 in the estimation cohort and 0.90 in the validation cohort. Furthermore, a high value of the combined score was associated with a high short-term mortality. CONCLUSIONS: The combination of the macrophage activation marker sCD163 and the fibrosis markers predicted......BACKGROUND: Noninvasive identification of significant portal hypertension in patients with cirrhosis is needed in hepatology practice. AIM: To investigate whether the combination of sCD163 as a hepatic inflammation marker and the fibrosis markers of the Enhanced Liver Fibrosis score (ELF) can...

  1. Sickle Cell Disease (SCD)

    Science.gov (United States)

    ... however you can Daughter's dying wish became mother's motivation Be The Match Blog Stories Anna, transplant recipient ... Jobs Job application FAQs E-Verify Career events Employee benefits About us Bea, transplant recipient Be The ...

  2. Acoustic characteristics of ataxic speech in Japanese patients with spinocerebellar degeneration (SCD).

    Science.gov (United States)

    Ikui, Yukiko; Tsukuda, Mamoru; Kuroiwa, Yoshiyuki; Koyano, Shigeru; Hirose, Hajime; Taguchi, Takahide

    2012-01-01

    In English- and German-speaking countries, ataxic speech is often described as showing scanning based on acoustic impressions. Although the term 'scanning' is generally considered to represent abnormal speech features including prosodic excess or insufficiency, any precise acoustic analysis of ataxic speech has not been performed in Japanese-speaking patients. This raises the question of what is the most dominant acoustic characteristic of ataxic speech in Japanese subjects, particularly related to the perceptual impression of 'scanning'. The study was designed to investigate the nature of speech characteristics of Japanese ataxic subjects, particularly 'scanning', by means of acoustic analysis. The study comprised 20 Japanese cases with spinocerebellar degeneration diagnosed to have a perceptual impression of scanning by neurologists (ataxic group) and 20 age-matched normal healthy subjects (control group). Recordings of speech samples of Japanese test sentences were obtained from each subject. The recorded and digitized acoustic samples were analysed using 'Acoustic Core-8' (Arcadia Inc.). Sentence duration was significantly longer in the ataxic group as compared with the control group, indicating that the speaking rate was slower in the ataxic subjects. Segment duration remained consistent in both vowels and consonants in the control group as compared with the ataxic group. In particular, the duration of vowel segments, i.e. the nucleus of Japanese mora, was significantly invariable in the control group regardless of differences between subjects as well as in segments compared with the ataxic group. In addition, the duration of phonemically long Japanese vowels was significantly shorter in the ataxic group. The results indicate that the perceptual impression of 'scanning' in Japanese ataxic cases derives mainly from the breakdown of isochrony in terms of difficulty in keeping the length of vowel segments of Japanese invariable during speech production. In

  3. [Usefulness of sCD14-ST in the diagnosis of sepsis in patient with renal failure].

    Science.gov (United States)

    Galeano, Dario; Zanoli, Luca; Fatuzzo, Pasquale; Granata, Antonio

    2016-01-01

    Since many years, researchers have focused their studies to find out early sepsis biomarkers for the purpose of gaining time in the application of early goal-directed therapy protocol. Procalcitonin (PCT) is a reliable biomarker for sepsis, although it has a low specificity and prognostic value. Other recently proposed sepsis biomarkers such as interleukins, C-reactive protein (CRP), myeloid cells expressing triggering receptor-1 (TREM-1) and soluble urokinase-type plasminogen activator receptor (suPAR) still have a controversial and uncertain clinical value. In 2004 a new biomarker, soluble CD14 SubType (sCD14-ST, Presepsin), with a good performance in the diagnosis and prognostic evaluation of sepsis has been proposed. First studies highlighted that Presepsin is highly sensitive and specific at the same time. However, further studies on the clinical value of Presepsin are needed, particularly in order to explain the relationship between Presepsin and kidney failure. Indeed, Presepsin is a 13 KDa molecule theoretically totally filtered by glomerulus and reabsorbed and metabolized by proximal convoluted tubules. Therefore, the Presepsin plasmatic level could be highly influenced by an acute kidney injury in the course of sepsis or by a pre-existing chronic kidney disease. In this article we reviewed the latest evidences about the diagnostic and prognostic performances of Presepsin as a sepsis biomarker. We evaluated the usefulness of Presepsin in the context of acute and chronic kidney dysfunction. The great number of articles have been collected and the thorough revision of data from the nephrologists perspective let us consider this work exhaustive and scientifically reliable, although concise: a good starting point for the physician who wants to make use of Presepsin.

  4. Iliopsoas hematoma in a patient with sickle cell disease.

    Science.gov (United States)

    Zielonka, Benjamin; Cohen, Alan R; Smith-Whitley, Kim; Doshi, Bhavya S

    2018-03-12

    Although musculoskeletal pain in patients with sickle cell disease (SCD) is most frequently the result of vaso-occlusive episodes, clinicians often consider other etiologies including osteomyelitis, avascular necrosis, and trauma. In this study, we report the case of a young female with SCD with hip and back pain secondary to a nontraumatic iliopsoas periosteal hematoma with evidence of adjacent bone infarction. The pathophysiology, diagnostic considerations, and management of periosteal hematomas in SCD are reviewed. This case highlights the need for recognition of unusual causes of musculoskeletal pain in SCD. © 2018 Wiley Periodicals, Inc.

  5. sTREM-1, sIL-2Rα, and IL-6, but not sCD163, might predict sepsis in polytrauma patients: a prospective cohort study.

    Science.gov (United States)

    Trancă, S; Oever, J T; Ciuce, C; Netea, M; Slavcovici, A; Petrișor, C; Hagău, N

    2017-06-01

    To investigate whether sTREM-1, sIL-2Rα, sCD163, and IL-6 predict septic complications following polytrauma. Prospective observational study in a university hospital intensive care unit. Blood samples were drawn on admission, 24 and 48 h after the injury from 64 adult polytrauma patients. The occurence of infectious complications was investigated. The sepsis-free rates for the multiple trauma patients were considered as end points in the Kaplan-Meier plot analysis. Upon admission, sIL-2Rα mean values were higher in the T group compared to the T&S patients (1789 ± 1027 pg/mL versus 1280 ± 605 pg/mL, p = 0.02). The initial mean values of sTREM-1, IL-6, and sCD163 did not discriminate between the T and T&S groups patients (p > 0.05). sTREM-1 cutoff was 62 pg/mL: the sepsis-free rates differed significantly between the patients with sTREM-1 concentrations lower and higher than the cutoff (80 versus 48 %, p sepsis; for sIL-2Rα values in the range 946-1593 pg/mL, the sepsis-free rate was 68 %, while from the patients with sIL-2Rα sepsis-free (p = 0.05). sCD163 cutoff of 1000 ng/mL did not discriminate between the patients (76 versus 64 %, p = 0.28). For IL-6, the sepsis-free rates differed significantly between the patients with concentrations lower and higher than 400 pg/mL (78 versus 38 %, p sepsis in multiple trauma patients. Level II-Diagnostic tests and criteria.

  6. End-stage renal disease in patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Ahmed M Alkhunaizi

    2017-01-01

    Full Text Available Sickle cell nephropathy is a severe complication of sickle cell disease (SCD that has a wide range of manifestations, from asymptomatic microalbuminuria to end-stage renal disease (ESRD. The data on patients with SCD who develop ESRD are scarce. The aim of this study was to explore the course of patients with SCD who developed ESRD and received renal replacement therapy (RRT. The course of patients with SCD who developed ESRD and started dialysis at two centers in the Eastern Province of Saudi Arabia was retrospectively analyzed. Parameters included age at initiation of dialysis, survival until death or kidney transplantation, hospitalization due to pain crisis, disease-related parameters, and requirement for blood transfusion. Sixteen patients with SCD developed ESRD and started RRT with either hemodialysis or peritoneal dialysis. The mean age at initiation of dialysis was 46.6 years. The majority of patients (10 out of 16 were resistant to erythropoiesis-stimulating agents (ESA and required blood transfusion repeatedly. Pain crises were infrequently encountered. Median survival was 54 months. Four patients received kidney transplantation with good outcome. In conclusion, most patients with SCD who developed ESRD were resistant to ESA and required repeated blood transfusion. The rate of hospitalization due to pain crisis was relatively low. Survival on dialysis was comparable to that of patients with no SCD, and the post-transplant course was relatively benign.

  7. The Subjective Cognitive Decline Questionnaire (SCD-Q): a validation study.

    Science.gov (United States)

    Rami, Lorena; Mollica, Maria A; García-Sanchez, Carmen; Saldaña, Judith; Sanchez, Belen; Sala, Isabel; Valls-Pedret, Cinta; Castellví, Magda; Olives, Jaume; Molinuevo, Jose L

    2014-01-01

    Subjective cognitive decline (SCD) is gaining importance as a focus of investigation, but adequate tools are needed for its quantification. To develop and validate a questionnaire to quantify SCD, termed the Subjective Cognitive Decline Questionnaire (SCD-Q). 124 controls (CTR), 144 individuals with SCD, 83 mild cognitive impairment subjects, 46 Alzheimer's disease patients, and 397 informants were included. The SCD-Q contains: part I, named MyCog, which is answered by the subject; and part II, TheirCog, which includes the same questions and is answered by the informant or caregiver. The 24 SCD-Q items assess the perceived subjective decline in memory, language, and executive functions in the last two years. The MyCog scores of controls differed significantly from those of the other groups (p subjects' objective cognitive performance, and discriminated between subjects with or without cognitive impairment. The SCD-Q is a useful tool to measure self-perceived cognitive decline incorporating the decliner and the informant perspective.

  8. Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease

    NARCIS (Netherlands)

    Hollak, C. E.; Evers, L.; Aerts, J. M.; van Oers, M. H.

    1997-01-01

    In type 1 Gaucher disease, decreased activity of glucocerebrosidase results in accumulation of glucosylceramide in macrophages. Infiltration of liver, spleen and bone marrow by lipid-laden macrophages leads to hepatosplenomegaly, bone lesions and cytopenia. These abnormal macrophages may produce and

  9. Adherence to hydroxyurea medication by children with sickle cell disease (SCD) using an electronic device: a feasibility study.

    Science.gov (United States)

    Inoue, Susumu; Kodjebacheva, Gergana; Scherrer, Tammy; Rice, Gary; Grigorian, Matthew; Blankenship, Jeremy; Onwuzurike, Nkechi

    2016-08-01

    Adherence to hydroxyurea (HU) is a significant modifying factor in sickle cell vaso-occlusive pain. We conducted a study using an electronic medication container-monitor-reminder device (GlowCap™) to track adherence and determine whether use of this device affected rates of HU adherence. Subjects were regular attendees to our clinic. They were given a 37-item questionnaire and were asked to use a GlowCap containing HU. When the device cap is opened, it makes a remote "medication taken" record. The device also provides usage reminder in the form of lights and alarm sounds if the cap opening is delayed. Nineteen subjects participated in the survey, and 17 in the intervention phase. Of the 17, 12 had reliable adherence data. Seventeen caregivers of patients and two patients completed the survey. Two most common barriers to adherence identified were lack of reminders and absence of medicine home delivery. The intervention component of this study, which used both the electronic (GlowCap) method and medication possession ratio showed that the median adherence rate for the 12 patients evaluated was 85 %. The GlowCap device accurately kept a record of adherence rates. This device may be an effective tool for increasing HU medication adherence.

  10. Sudden cardiac death in non-dialysis chronic kidney disease patients.

    Science.gov (United States)

    Caravaca, Francisco; Chávez, Edgar; Alvarado, Raúl; García-Pino, Guadalupe; Luna, Enrique

    2016-01-01

    A relatively high proportion of deaths in dialysis patients occur suddenly and unexpectedly. The incidence of sudden cardiac death (SCD) in non-dialysis advanced chronic kidney disease (CKD) stages has been less well investigated. This study aims to determine the incidence and predictors of SCD in a cohort of 1078 patients with CKD not yet on dialysis. Prospective observational cohort study, which included patients with advanced CKD not yet on dialysis (stage 4-5). The association between baseline variables and SCD was assessed using Cox and competing-risk (Fine and Grey) regression models. Demographic, clinical information, medication use, and baseline biochemical parameters of potential interest were included as covariates. During the study period (median follow-up time 12 months), 210 patients died (19%), and SCD occurred in 34 cases (16% of total deaths). All-cause mortality and SCD incidence rates were 113 (95% CI: 99-128), and 18 (95% CI: 13-26) events per 1000 patients/year, respectively. By Cox regression analysis, covariates significantly associated with SCD were: Age, comorbidity index, and treatment with antiplatelet drugs. This latter covariate showed a beneficial effect over the development of SCD. By competing-risk regression, in which the competing event was non-sudden death from any cause, only age and comorbidity index remained significantly associated with SCD. SCD is relatively common in non-dialysis advanced CKD patients. SCD was closely related to age and comorbidity, and some indirect data from this study suggest that unrecognised or undertreated cardiovascular disease may predispose to a higher risk of SCD. Copyright © 2016 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.

  11. Bone Marrow-Derived Mesenchymal Stromal Cells from Patients with Sickle Cell Disease Display Intact Functionality.

    Science.gov (United States)

    Stenger, Elizabeth O; Chinnadurai, Raghavan; Yuan, Shala; Garcia, Marco; Arafat, Dalia; Gibson, Greg; Krishnamurti, Lakshmanan; Galipeau, Jacques

    2017-05-01

    Hematopoietic cell transplantation (HCT) is the only cure for sickle cell disease (SCD), but engraftment remains challenging in patients lacking matched donors. Infusion of mesenchymal stromal cells (MSCs) at the time of HCT may promote hematopoiesis and ameliorate graft-versus-host disease. Experimental murine models suggest MSC major histocompatibility complex compatibility with recipient impacts their in vivo function, suggesting autologous MSCs could be superior to third-party MSCs for promoting HCT engraftment. Here we tested whether bone marrow (BM)-derived MSCs from SCD subjects have comparable functionality compared with MSCs from healthy volunteers. SCD MSC doubling time and surface marker phenotype did not differ significantly from non-SCD. Third-party and autologous (SCD) T cell proliferation was suppressed in a dose-dependent manner by all MSCs. SCD MSCs comparably expressed indoleamine-2,3-dioxygenase, which based on transwell and blocking experiments appeared to be the dominant immunomodulatory pathway. The expression of key genes involved in hematopoietic stem cell (HSC)-MSC interactions was minimally altered between SCD and non-SCD MSCs. Expression was, however, altered by IFN-γ stimulation, particularly CXCL14, CXCL26, CX3CL1, CKITL, and JAG1, indicating the potential to augment MSC expression by cytokine stimulation. These data demonstrate the feasibility of expanding BM-derived MSCs from SCD patients that phenotypically and functionally do not differ per International Society of Cell Therapy essential criteria from non-SCD MSCs, supporting initial evaluation (primarily for safety) of autologous MSCs to enhance haploidentical HSC engraftment in SCD. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  12. Patients' views on improving sickle cell disease management in primary care: focus group discussion.

    Science.gov (United States)

    Aljuburi, Ghida; Phekoo, Karen J; Okoye, Nv Ogo; Anie, Kofie; Green, Stuart A; Nkohkwo, Asaah; Ojeer, Patrick; Ndive, Comfort; Banarsee, Ricky; Oni, Lola; Majeed, Azeem

    2012-12-01

    To assess sickle cell disease (SCD) patient and carer perspectives on the primary care services related to SCD that they receive from their general practitioner (GP). A focus group discussion was used to elicit the views of patients about the quality of care they receive from their primary health-care providers and what they thought was the role of primary care in SCD management. The focus group discussion was video recorded. The recording was then examined by the project team and recurring themes were identified. A comparison was made with notes made by two scribes also present at the discussion. Sickle Cell Society in Brent, UK. Ten participants with SCD or caring for someone with SCD from Northwest London, UK. Patients' perceptions about the primary care services they received, and a list of key themes and suggestions. Patients and carers often bypassed GPs for acute problems but felt that GPs had an important role to play around repeat prescriptions and general health care. These service users believed SCD is often ignored and deemed unimportant by GPs. Participants wanted the health service to support primary health-care providers to improve their knowledge and understanding of SCD. Key themes and suggestions from this focus group have been used to help develop an educational intervention for general practice services that will be used to improve SCD management in primary care.

  13. Addiction or pseudoaddiction in sickle cell disease patients: Time to ...

    African Journals Online (AJOL)

    Objective: The objective of this report is to highlight the background factors associated with opioid abuse among Sickle Cell Disease (SCD) patients. Patients: Eleven patients aged 13-53 years (mean, 26.1yrs) which included six female and five male were seen in the last six year at a tertiary health facility. The modes of ...

  14. Monocyte expression and soluble levels of the haemoglobin receptor (CD163/sCD163 and the mannose receptor (MR/sMR in septic and critically ill non-septic ICU patients.

    Directory of Open Access Journals (Sweden)

    Anders G Kjærgaard

    Full Text Available BACKGROUND: The diagnosis of sepsis is challenging and there is an unmet need for sensitive and specific diagnostic and prognostic biomarkers. Following activation of macrophages and monocytes, the haptoglobin-haemoglobin receptor (CD163 and the mannose receptor (MR are shed into the circulation (sCD163 and sMR. OBJECTIVE: We investigated monocyte expression of CD163 and MR, and levels of sCD163 and sMR in septic and non-septic patients, and in healthy controls. We hypothesised that these receptors are elevated during sepsis and can be used diagnostic and prognostic. METHODS: Twenty-one patients with severe sepsis or septic shock and 15 critically ill non-septic patients were included in this prospective observational study at three ICUs at Aarhus University Hospital and Randers Regional Hospital, Denmark. Fifteen age- and gender-matched healthy volunteers served as controls. Levels of sCD163 and sMR were measured using a sandwich ELISA and monocyte expression of CD163 and MR was evaluated by flow cytometry during the first four days of ICU stay. The diagnostic and prognostic values of the receptors were assessed using AUROC curves. RESULTS: At ICU admission and during the observation period, monocyte expression of CD163 and levels of sCD163 and sMR were significantly higher in septic patients compared with non-septic patients and healthy controls (p<0.01 for all comparisons. Monocytes did not express MR. The diagnostic values estimated by AUROC were 1.00 for sMR, 0.95 for sCD163, 0.87 for CRP, and 0.75 for monocyte-bound CD163. Among the septic patients, monocyte expression of CD163 was higher in non-survivors compared with survivors at ICU admission (p = 0.02 and during the observation period (p = 0.006. The prognostic value of monocyte-bound CD163 estimated by AUROC at ICU admission was 0.82. CONCLUSION: The macrophage-specific markers CD163, sCD163, and sMR are increased in septic patients. Particularly sMR is a promising new

  15. Changes in fat mass correlate with changes in soluble sCD163, a marker of mature macrophages, in patients with CKD

    DEFF Research Database (Denmark)

    Axelsson, Jonas; Møller, Holger Jon; Witasp, Anna

    2006-01-01

    BACKGROUND: Recently, adipose tissue was shown to contain macrophages capable of contributing to systemic inflammation and cardiovascular disease (CVD). Here, we investigate this putative relationship in patients with chronic kidney disease (CKD) by using the novel macrophage marker soluble (s...

  16. Tract specific analysis in patients with sickle cell disease

    Science.gov (United States)

    Chai, Yaqiong; Coloigner, Julie; Qu, Xiaoping; Choi, Soyoung; Bush, Adam; Borzage, Matt; Vu, Chau; Lepore, Natasha; Wood, John

    2015-12-01

    Sickle cell disease (SCD) is a hereditary blood disorder in which the oxygen-carrying hemoglobin molecule in red blood cells is abnormal. It affects numerous people in the world and leads to a shorter life span, pain, anemia, serious infections and neurocognitive decline. Tract-Specific Analysis (TSA) is a statistical method to evaluate white matter alterations due to neurocognitive diseases, using diffusion tensor magnetic resonance images. Here, for the first time, TSA is used to compare 11 major brain white matter (WM) tracts between SCD patients and age-matched healthy subjects. Alterations are found in the corpus callosum (CC), the cortico-spinal tract (CST), inferior fronto-occipital fasciculus (IFO), inferior longitudinal fasciculus (ILF), superior longitudinal fasciculus (SLF), and uncinated fasciculus (UNC). Based on previous studies on the neurocognitive functions of these tracts, the significant areas found in this paper might be related to several cognitive impairments and depression, both of which are observed in SCD patients.

  17. Factor V Leiden G1691A and prothrombin G20210A mutations among Palestinian patients with sickle cell disease.

    Science.gov (United States)

    Samarah, Fekri; Srour, Mahmoud A

    2018-01-01

    Vascular thrombosis is an important pathophysiological aspect of sickle cell disease (SCD). This study aimed to investigate the prevalence and clinical impact of factor V Leiden G1691A (FVL) and prothrombin G20210A mutations among Palestinian sickle cell disease (SCD) patients. A total of 117 SCD patients, including 59 patients with sickle cell anemia (SS), 33 patients with sickle β-thalassemia and 25 individuals with sickle cell trait (AS) were studied. The control group consisted of 118 healthy individuals. FVL and prothrombin G20210A mutations were determined by RFLP PCR. Analysis of the clinical history of SCD patients revealed that seven patients have had vascular complications such as ischemic stroke or deep vein thrombosis. In SCD patients, the inheritance of the FVL mutation showed a significantly higher incidence of pain in joints, chest and abdomen as well as regular dependence on blood transfusion compared to SCD with the wild type. Age- and sex-adjusted logistic regression analysis revealed a significant association between FVL and sickle cell anemia with an odds ratio (OR) of 5.6 (95% confidence intervals [CI] of 1.91-39.4, P  = 0.039) in SS patients. However, increased prevalence of the FVL in AS subjects and sickle β-thalassemia patients was not statistically significant compared to controls (OR 3.97, 95% CI 0.51-28.6, P  = 0.17 and OR 3.59, 95% CI 0.35-41.6, P  = 0.26, respectively). The distribution of prothrombin G20210A mutation among SCD patients compared to controls was not significantly different, thus our findings do not support an association of this mutation with SCD. FVL was more prevalent among SS patients compared to controls and it was associated with higher incidence of disease complications among SCD patients.

  18. Barriers to conceiving sibling donors for sickle cell disease: perspectives from patients and parents.

    Science.gov (United States)

    Jae, Gina A; Lewkowitz, Adam K; Yang, Joanna C; Shen, Liang; Rahman, Amal; Del Toro, Gustavo

    2011-01-01

    The lack of matched sibling donors poses a significant barrier to utilizing hematopoietic cell transplantation (HCT), the only proven cure for children with sickle cell disease (SCD). Little is known about current patient and parent perspectives towards HCT for SCD. This study examines the perceived barriers of transplant, and the use of in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD), when there is no pre-existing sibling donor. Semi-structured interviews were conducted with adult patients with SCD and parents of children with SCD in an urban medical center in the US. Transcribed data was analyzed using qualitative methods. Of 23 participants, 17 reported having heard of HCT for SCD. Fewer knew of IVF or PGD as a means for conceiving an unaffected child (n =7) or to select a potential umbilical cord blood donor (n =1). The financial cost of IVF and PGD was perceived as a significant initial barrier to accessing these technologies, with the clinical risks of HCT and the ethical appropriateness of using PGD also identified as barriers. The value of informing families of these options was a recurring theme, even among respondents who personally disagreed with their application. The low utilization of curative strategies for SCD appears to be partly attributable to a lack of information about the technologies available to facilitate transplantation. Ethical reservations, while present, were not static and did not preclude patients' and parents' desire to be informed. We discuss the implications of these perceived barriers to the dissemination of advanced medical technologies for SCD.

  19. Outcome after cardiopulmonary resuscitation in patients with congenital heart disease.

    Science.gov (United States)

    Van Puyvelde, Tim; Ameloot, Koen; Roggen, Mieke; Troost, Els; Gewillig, Marc; Budts, Werner; Van De Bruaene, Alexander

    2017-03-01

    Outcome after cardiopulmonary resuscitation (CPR) in patients with underlying congenital heart disease is uncertain. This study aimed at evaluating outcome after CPR in patients with underlying congenital heart disease, factors related to worse outcome after CPR and whether survivors of sudden cardiac death (SCD) have a worse outcome when compared to an age, gender and disease-matched control population. Between 1984 and 2015, all patients with congenital heart disease who received in or out-of-hospital CPR were identified from the database of congenital heart disease from the University Hospitals Leuven. Postoperative and neonatal (CPR was excluded. For each survivor of SCD, two control patients matched for gender, age and underlying heart defect were included in the study. Thirty-eight patients (66% men; median age 25 years (interquartile range 9-40); 68% out-of-hospital) were identified, of which 27 (66%) survived the event. The main cause of SCD was ventricular tachycardia or fibrillation ( n=21). Heart defect complexity (odds ratio (OR) 5.1; 95% confidence interval (CI) 1.2-21.9; P=0.027), pulmonary hypertension (OR 13.8; 95% CI 2.1-89.5; P=0.006) and time to return of spontaneous circulation (OR 1.1; 95% CI 1.0-1.1; P=0.046) were related to worse outcome. Survivors of SCD had a worse prognosis when compared to an age, gender and disease-matched control group (5-year survival 76% vs. 98%; P=0.002). The complexity of underlying heart defect, pulmonary hypertension and time to return of spontaneous circulation are related to worse outcome in the case of CPR. Survivors of SCD have a worse outcome when compared to matched controls, indicating the need for adequate implantable cardioverter defibrillator indication assessment and for stringent follow-up of patients with worsening haemodynamics.

  20. Stroke prevalence amongst sickle cell disease patients in Nigeria: a ...

    African Journals Online (AJOL)

    Background: Stroke is a life-changing, debilitating complication of sickle cell disease (SCD). Previous studies had recorded high stroke prevalence amongst this group of patients. Nigeria has a large population of people affected by this condition and this study aims to assess the stroke prevalence in this large population.

  1. Hydroxyurea in Pediatric Patients With Sickle Cell Disease: What Nurses Need to Know.

    Science.gov (United States)

    Rees, Allison L

    2016-09-01

    Sickle cell disease (SCD) is an inherited disorder in which sickled red blood cells occlude the small vessels of the body, reducing oxygen delivery to tissues and ultimately negatively affecting many of the body's major organs. Hydroxyurea has proven beneficial in the treatment of SCD and prevention of disease-related complications. The 2014 guidelines put forth by the National Heart, Lung, and Blood Institute recommend hydroxyurea treatment in infants 9 months and older, children, and adolescents with SCD-SS or SCD-Sβ(0) thalassemia regardless of clinical severity. This is a change from the 2002 guidelines in which hydroxyurea was recommended for adolescents and children with SCD-SS or SCD-Sβ(0) thalassemia with frequent episodes of pain, a history of acute chest syndrome, severe and symptomatic anemia or other severe vaso-occlusive events. Nurses play a critical role in working with patients and families to provide education, guidance, and support to improve compliance to mitigate the long-term effects of SCD. © 2015 by Association of Pediatric Hematology/Oncology Nurses.

  2. The interaction between sickle cell disease and HIV infection: a systematic review

    NARCIS (Netherlands)

    Owusu, Ewurama D. A.; Visser, Benjamin J.; Nagel, Ingeborg M.; Mens, Petra F.; Grobusch, Martin P.

    2015-01-01

    Human immunodeficiency virus (HIV) and sickle cell disease (SCD) are regarded as endemic in overlapping geographic areas; however, for most countries only scarce data on the interaction between HIV and SCD and disease burden exist. HIV prevalence in SCD patients varies between 0% and 11.5% in

  3. Elevated Serum Levels of Soluble CD30 in Ankylosing Spondylitis Patients and Its Association with Disease Severity-Related Parameters

    Directory of Open Access Journals (Sweden)

    Rongfen Gao

    2015-01-01

    Full Text Available Soluble CD30 (sCD30, a transmembrane glycoprotein that belongs to the tumor necrosis factor receptor (TNFR superfamily, has been shown to be associated with various pathological conditions. This study was designed to measure the levels of serum sCD30 in patients with ankylosing spondylitis (AS and to evaluate the relationships between serum sCD30 levels and other disease severity-related indexes, including bath ankylosing spondylitis disease activity index (BASDAI, ankylosing spondylitis disease activity score (ASDAS, and bath ankylosing spondylitis functional index (BASFI. Our results demonstrated significantly elevated sCD30 levels in AS patients compared to healthy controls (HCs with mean values of 32.0±12.2 and 24.9±8.0 ng/mL, respectively (P**=0.007, suggesting a potential role of sCD30 in the pathogenesis of AS. However, no significant correlations of sCD30 with BASDAI, ASDAS, or BASFI were detected in our study (P>0.05. Therefore, sCD30 cannot be used as a reliable marker for reflecting disease activity and functional ability of AS patients.

  4. The macrophage low-grade inflammation marker sCD163 is modulated by exogenous sex steroids

    DEFF Research Database (Denmark)

    Thomsen, Henrik; Møller, Holger Jon; Trolle, Christian

    2013-01-01

    Soluble CD163 (sCD163) is a novel marker linked to states of low-grade inflammation such as diabetes, obesity, liver disease, and atherosclerosis, all prevalent in subjects with Turner syndrome (TS) and Klinefelter syndrome (KS). We aimed to assess the levels of sCD163 and the regulation of sCD163...

  5. Acute Chest Syndrome in Sickle Cell Disease Patients Post Caesarean Delivery

    Directory of Open Access Journals (Sweden)

    YM Zhang

    2016-02-01

    Full Text Available Sickle cell disease (SCD is the most common inherited disease worldwide and is associated with anaemia and intermittent painful crisis. Pregnant women who are affected are known to have increased maternal and fetal mortality and morbidity. Acute chest syndrome (ACS is an uncommon but serious complication in pregnant women with SCD that can lead to death. We present two cases of patients with SCD, both of whom had severe ACS within 24 hours post Caesarean section. By accurate diagnosis and appropriate management by a multidisciplinary team, both mothers and fetuses had excellent outcomes. It is suggested that prompt recognition of ACS in a pregnant woman with SCD and collaborative medical and obstetric management are essential to optimize maternal and fetal outcomes.

  6. Patent Foramen Ovale in Patients with Sickle Cell Disease and Stroke: Case Presentations and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Sheila Razdan

    2013-01-01

    Full Text Available Although individuals with sickle cell disease (SCD are at increased risk for stroke, the underlying pathophysiology is incompletely understood. Intracardiac shunting via a patent foramen ovale (PFO is associated with cryptogenic stroke in individuals without SCD. Recent evidence suggests that PFOs are associated with stroke in children with SCD, although the role of PFOs in adults with stroke and SCD is unknown. Here, we report 2 young adults with SCD, stroke, and PFOs. The first patient had hemoglobin SC and presented with a transient ischemic attack and a subsequent ischemic stroke. There was no evidence of cerebral vascular disease on imaging studies and the PFO was closed. The second patient had hemoglobin SS and two acute ischemic strokes. She had cerebral vascular disease with moyamoya in addition to a peripheral deep venous thrombosis (DVT. Chronic transfusion therapy was recommended, and the DVT was managed with warfarin. The PFO was not closed, and the patients' neurologic symptoms were stabilized. We review the literature on PFOs and stroke in SCD. Our cases and the literature review illustrate the dire need for further research to evaluate PFO as a potential risk factor for stroke in adults with SCD.

  7. Towards safer surgery in patients with sickle cell disease

    International Nuclear Information System (INIS)

    Meshikhes, Abdul-Wahed N.

    2007-01-01

    Surgery in patients with sickle cell disease (SCD) has been associated with high morbidity and mortality. In recent years, a marked improvement in the safety of surgery and anesthesia in this high-risk group of patients has been witnessed; owing to the improvements in surgical and anesthetic care, greater awareness of pathophysiology of disease, proper perioperative preparation and attention to factors predisposing to vasoocclusive crises. However, this is not paralleled by similar improvement in countries where the disease is not prevalent. Greater population mobility in recent years makes recognition of surgical manifestations of the disease and awareness of perioperative management of sickle cell patients undergoing surgical interventions of paramount importance. This article aims to summarize steps towards safer surgery in patients with SCD. (author)

  8. Increased theta band EEG power in sickle cell disease patients

    Directory of Open Access Journals (Sweden)

    Case M

    2017-12-01

    Full Text Available Michelle Case,1 Sina Shirinpour,1 Huishi Zhang,1 Yvonne H Datta,2 Stephen C Nelson,3 Karim T Sadak,4 Kalpna Gupta,2 Bin He1,5 1Department of Biomedical Engineering, 2Department of Medicine, University of Minnesota, 3Pediatric Hematology-Oncology, Children’s Hospitals and Clinics of Minnesota, 4Pediatric Hematology-Oncology, University of Minnesota Masonic Children’s Hospital, 5Institute for Engineering in Medicine, University of Minnesota, Minneapolis, MN, USA Objective: Pain is a major issue in the care of patients with sickle cell disease (SCD. The mechanisms behind pain and the best way to treat it are not well understood. We studied how electroencephalography (EEG is altered in SCD patients. Methods: We recruited 20 SCD patients and compared their resting state EEG to that of 14 healthy controls. EEG power was found across frequency bands using Welch’s method. Electrophysiological source imaging was assessed for each frequency band using the eLORETA algorithm. Results: SCD patients had increased theta power and decreased beta2 power compared to controls. Source localization revealed that areas of greater theta band activity were in areas related to pain processing. Imaging parameters were significantly correlated to emergency department visits, which indicate disease severity and chronic pain intensity. Conclusion: The present results support the pain mechanism referred to as thalamocortical dysrhythmia. This mechanism causes increased theta power in patients. Significance: Our findings show that EEG can be used to quantitatively evaluate differences between controls and SCD patients. Our results show the potential of EEG to differentiate between different levels of pain in an unbiased setting, where specific frequency bands could be used as biomarkers for chronic pain. Keywords: sickle cell disease, electroencephalography, chronic pain, electrophysiological source imaging, thalamocortical dysrhythmia

  9. Impact of skin capsular distance on the performance of controlled attenuation parameter in patients with chronic liver disease.

    Science.gov (United States)

    Shen, Feng; Zheng, Rui-Dan; Shi, Jun-Ping; Mi, Yu-Qiang; Chen, Guo-Feng; Hu, Xiqi; Liu, Yong-Gang; Wang, Xiao-Ying; Pan, Qin; Chen, Guang-Yu; Chen, Jian-Neng; Xu, Liang; Zhang, Rui-Nan; Xu, Lei-Ming; Fan, Jian-Gao

    2015-11-01

    Controlled attenuation parameter (CAP) is a non-invasive method for evaluating hepatic steatosis. However, larger skin capsular distance (SCD) can affect the accuracy. The aim of this study was to investigate the impact of SCD on the diagnostic performance of CAP and liver stiffness measurement (LSM). Of 101 patients with non-alcoholic fatty liver disease (NAFLD) and 280 patients with chronic hepatitis B (CHB) who underwent liver biopsy were prospectively recruited. CAP, LSM and SCD were performed using FibroScan with M probe. The areas under receiver operating characteristics curves (AUROCs) were calculated to determine the diagnostic efficacy. The optimal thresholds were defined by the maximum Youden index. SCD (B 30.34, P multivariate analysis. The AUROCs were slightly higher for SCD 33% (0.90 vs. 0.85) and >66% (0.84 vs. 0.72). For SCD 33% and >66% were 255.0 dB/m, 283.5 dB/m and 293.5 dB/m. However, cut-offs were elevated by approximately 60-70 dB/m for SCD ≥25 mm. When stratified by fibrosis grade, LSM was significantly affected by SCD ≥25 mm for advanced fibrosis (≥F3) in NAFLD, but not in CHB. CAP is a promising tool for detecting and quantifying hepatic steatosis. SCD ≥25 mm may cause overestimation of steatosis. Similarly, SCD ≥25 mm affects the detection of advanced fibrosis by LSM in NAFLD patients. © 2015 The Authors. Liver International Published by John Wiley & Sons Ltd.

  10. Adverse Reactions to Pneumococcal Vaccine in Pediatric and Adolescent Patients with Sickle Cell Disease.

    Science.gov (United States)

    Han, Jin; Kemiki, Opeyemi; Hsu, Lewis L; Rivers, Angela E

    2015-07-01

    To review five cases of severe adverse reactions after vaccination with the 23-valent pneumococcal polysaccharide vaccine (PPSV23) in pediatric and adolescent patients with sickle cell disease (SCD), and to evaluate the prevalence of adverse reactions to PPSV23 in patients with SCD by analyzing data from the Vaccine Adverse Event Reporting System (VAERS). Case series and retrospective analysis of data from the VAERS. Medical records from a tertiary care hospital and the VAERS database. Five cases of severe adverse reactions after vaccination with PPSV23 in pediatric and adolescent patients with SCD (aged 2-22 years) were reviewed. The adverse reactions occurred within 24 hours after immunization, and all five patients required medical attention. Analysis of data from the VAERS found that PPSV23 was the most commonly reported vaccine causing adverse events in patients with SCD, accounting for 62% of all vaccine-induced adverse events. This rate is significantly higher than the rate of adverse events related to PPSV23 in patients with human immunodeficiency virus (HIV) or asthma (62% vs 16%, padverse reactions in pediatric patients (adverse reactions to PPSV23 is greater in patients with SCD than in patients with HIV or asthma, and especially in pediatric and adolescent patients with SCD compared with their adult counterparts. Health care professionals should closely monitor for potential adverse events after PPSV23 vaccination or revaccination in patients with SCD, adhere to the recommended time interval between PCV13 and PPSV23 administration, and possibly consider avoiding simultaneous administration of other vaccines with PPSV23. © 2015 Pharmacotherapy Publications, Inc.

  11. Dyspnea, pulmonary function and exercise capacity in adult Saudi patients with sickle cell disease

    International Nuclear Information System (INIS)

    Alameri, Hatem F.; Alem, A.; Al-Momen, A.; Kardas, W.; Owais, M.; Jehangir, A.

    2008-01-01

    Objective was to examine pulmonary function, dyspnea, and exercise capacity in adult Saudi patients with sickle cell disease (SCD) patients. The patients were recruited from the hematology clinic at King Khalid University Hospital in Riyadh from January to December 2005. The study involved 39 patients with stable SCD 20 women and 19 men, with a mean age of 22.7+/- 7.1 years, hemoglobin level of 95.5+/-14.6g/L and hemoglobin F level of 13.7+/08.6. Patients underwent pulmonary function tests PFT forced expiratory volume in first second [FEV1], forced vital capacity [FVC], and diffusion capacity of carbon monoxide [DLco] data are presented as a percentage of the normal prediction, a 6- minute walk test 6MWT and echocardiography. Dyspnea was assessed using the Borg score. The 6MWT data were compared to body mass index matched healthy controls. Forty-one percent of SCD patients had mild dyspnea at rest and this increased to 61% at the end of the 6MWT. Pulmonary function tests were abnormal in 51%, 36% of patients had a restrictive pattern, 10% had isolated decrease in DLco and 5% had a mixed restrictive-obstrutive pattern. The 6MWD was shorter in SCD patients compared to the controls 368+/-67 versus 407+/-47m, p=0.005. No hematological variables correlated with outcome variables. Chronic pulmonary complications in adult Saudi SCD patients are relatively mild but common. Pulmonary function in these patients differs from that published for African-origin SCD patients. The difference may reflect a different natural history of SCD in the 2 populations. (author)

  12. Soluble CD163 is increased in patients with acute pancreatitis independent of disease severity.

    Science.gov (United States)

    Karrasch, Thomas; Brünnler, Tanja; Hamer, Okka W; Schmid, Karin; Voelk, Markus; Herfarth, Hans; Buechler, Christa

    2015-10-01

    Macrophages are crucially involved in the pathophysiology of acute pancreatitis. Soluble CD163 (sCD163) is specifically released from macrophages and systemic levels are increased in inflammatory diseases. Here, sCD163 was measured in serum of 50 patients with acute pancreatitis to find out possible associations with disease activity. Admission levels of systemic sCD163 were nearly three-fold higher in patients with acute pancreatitis compared to controls. In patients sCD163 did not correlate with C-reactive protein and leukocyte count as established markers of inflammation. Levels were not associated with disease severity assessed by the Schroeder score, Balthazar score, Acute Physiology, Age, and Chronic Health Evaluation (Apache) II score and peripancreatic necrosis score. Soluble CD163 was not related to complications of acute pancreatitis. These data show that serum sCD163 is increased in acute pancreatitis indicating activation of macrophages but is not associated with disease severity and outcome. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Macrophage activation marker soluble CD163 and non-alcoholic fatty liver disease in morbidly obese patients undergoing bariatric surgery

    DEFF Research Database (Denmark)

    Kazankov, Konstantin; Tordjman, Joan; Møller, Holger Jon

    2015-01-01

    BACKGROUND AND AIMS: Macrophages play an important role in non-alcoholic fatty liver disease (NAFLD). Soluble CD163 (sCD163) is a specific marker of macrophage activation. We aimed to measure sCD163 in morbidly obese patients with varying degrees of NAFLD before and after bariatric surgery (BS...... (NAS), Kleiner fibrosis score, and the fatty liver inhibition of progression (FLIP) algorithm. In a subset, CD163 immunohistochemistry and real-time quantitative polymerase chain reaction for CD163 mRNA were performed. RESULTS: sCD163 was higher in patients with NAS ≥ 5 compared with those with NAS ...). METHODS: Demographic, clinical, and biochemical data, and plasma sCD163 measured by enzyme-linked immunosorbent assay, of 196 patients were collected preoperatively and 3, 6, and 12 months after BS leading to significant weight loss. Peroperative liver biopsies were assessed for the NAFLD Activity Score...

  14. Successful pulmonary thromboendarterectomy in a patient with sickle cell disease and associated resolution of a leg ulcer

    Directory of Open Access Journals (Sweden)

    Abhinav Agrawal

    2018-01-01

    Full Text Available Pulmonary hypertension (PH is a relatively frequent and severe complication of sickle cell disease (SCD. PH associated with SCD is classified as Group 5 PH. The exact pathogenesis of PH in SCD in not known. There are also very limited treatment options available at this time for such patients with Group 5 PH. Patients with SCD are predisposed to a hypercoagulable state and thus can also suffer from chronic thromboembolism. These patients can have associated chronic thromboembolic pulmonary hypertension (CTEPH, thus being classified as Group 4 PH. We present such a case of a patient with SCD diagnosed with severe PH who was found to have CTEPH and successfully underwent a thromboendarterectomy with resolution of his symptoms such as reduction of his oxygen requirements and healing of chronic leg ulcer. This case illustrates the importance of screening patients with SCD and elevated pulmonary artery pressures for CTEPH as this would offer possible treatment options such as pulmonary thromboendarterectomy and/or riociguat in this subset of patients.

  15. Multicenter COMPACT study of COMplications in patients with sickle cell disease and utilization of iron chelation therapy.

    Science.gov (United States)

    Jordan, Lanetta; Adams-Graves, Patricia; Kanter-Washko, Julie; Oneal, Patricia A; Sasane, Medha; Vekeman, Francis; Bieri, Christine; Magestro, Matthew; Marcellari, Andrea; Duh, Mei Sheng

    2015-03-01

    Over the past few decades, lifespans of sickle cell disease (SCD) patients have increased; hence, they encounter multiple complications. Early detection, appropriate comprehensive care, and treatment may prevent or delay onset of complications. We collected longitudinal data on sickle cell disease (SCD) complication rates and associated resource utilization relative to blood transfusion patterns and iron chelation therapy (ICT) use in patients aged ≥16 years to address a gap in the literature. Medical records of 254 SCD patients ≥16 years were retrospectively reviewed at three US tertiary care centers. We classified patients into cohorts based on cumulative units of blood transfused and ICT history: ICT (Cohort 1 [C1]), ≥15 units, no ICT (Cohort 2 [C2]), and ≥15 units with ICT (Cohort 3 [C3]). We report SCD complication rates per patient per year; cohort comparisons use rate ratios (RRs). Cohorts had 69 (C1), 91 (C2), and 94 (C3) patients. Pain led to most hospitalizations (76%) and emergency department (ED) (82%) visits. Among transfused patients (C2+C3), those receiving ICT were less likely to experience SCD complications than those who did not (RR [95% CI] C2 vs. C3: 1.33 [1.25-1.42]). Similar trends (RR [95% CI]) were observed in ED visits and hospitalizations associated with SCD complications (C2 vs. C3, ED: 1.94 [1.70-2.21]; hospitalizations: 1.61 [1.45-1.78]), but not in outpatient visits. Although the most commonly reported SCD complication among all patients was pain, patients who received ICT were less likely to experience pain and other complications than those who did not. These results highlight the need for increased patient and provider education on the importance of comprehensive disease management.

  16. Cellular function reinstitution of offspring red blood cells cloned from the sickle cell disease patient blood post CRISPR genome editing.

    Science.gov (United States)

    Wen, Jianguo; Tao, Wenjing; Hao, Suyang; Zu, Youli

    2017-06-13

    Sickle cell disease (SCD) is a disorder of red blood cells (RBCs) expressing abnormal hemoglobin-S (HbS) due to genetic inheritance of homologous HbS gene. However, people with the sickle cell trait (SCT) carry a single allele of HbS and do not usually suffer from SCD symptoms, thus providing a rationale to treat SCD. To validate gene therapy potential, hematopoietic stem cells were isolated from the SCD patient blood and treated with CRISPR/Cas9 approach. To precisely dissect genome-editing effects, erythroid progenitor cells were cloned from single colonies of CRISPR-treated cells and then expanded for simultaneous gene, protein, and cellular function studies. Genotyping and sequencing analysis revealed that the genome-edited erythroid progenitor colonies were converted to SCT genotype from SCD genotype. HPLC protein assays confirmed reinstallation of normal hemoglobin at a similar level with HbS in the cloned genome-edited erythroid progenitor cells. For cell function evaluation, in vitro RBC differentiation of the cloned erythroid progenitor cells was induced. As expected, cell sickling assays indicated function reinstitution of the genome-edited offspring SCD RBCs, which became more resistant to sickling under hypoxia condition. This study is an exploration of genome editing of SCD HSPCs.

  17. Cellular function reinstitution of offspring red blood cells cloned from the sickle cell disease patient blood post CRISPR genome editing

    Directory of Open Access Journals (Sweden)

    Jianguo Wen

    2017-06-01

    Full Text Available Abstract Background Sickle cell disease (SCD is a disorder of red blood cells (RBCs expressing abnormal hemoglobin-S (HbS due to genetic inheritance of homologous HbS gene. However, people with the sickle cell trait (SCT carry a single allele of HbS and do not usually suffer from SCD symptoms, thus providing a rationale to treat SCD. Methods To validate gene therapy potential, hematopoietic stem cells were isolated from the SCD patient blood and treated with CRISPR/Cas9 approach. To precisely dissect genome-editing effects, erythroid progenitor cells were cloned from single colonies of CRISPR-treated cells and then expanded for simultaneous gene, protein, and cellular function studies. Results Genotyping and sequencing analysis revealed that the genome-edited erythroid progenitor colonies were converted to SCT genotype from SCD genotype. HPLC protein assays confirmed reinstallation of normal hemoglobin at a similar level with HbS in the cloned genome-edited erythroid progenitor cells. For cell function evaluation, in vitro RBC differentiation of the cloned erythroid progenitor cells was induced. As expected, cell sickling assays indicated function reinstitution of the genome-edited offspring SCD RBCs, which became more resistant to sickling under hypoxia condition. Conclusions This study is an exploration of genome editing of SCD HSPCs.

  18. Self-efficacy, transition, and patient outcomes in the sickle cell disease population.

    Science.gov (United States)

    Molter, Brittany L; Abrahamson, Kathleen

    2015-06-01

    Severe pain is a common symptom of sickle cell disease (SCD). Transitions between adult and pediatric care are a point of particular vulnerability for patients, increasing the risk for poor pain management. The purpose of this literature review was to investigate the relationships among self-efficacy, transition, and SCD health outcomes. A systematic literature search was performed within CINAHL, Academic Search Premier, MEDLINE, and PubMed on published papers between 2003 and 2013. After applying exclusion criteria, 20 articles were used in the final review. Few studies were identified that directly tested the relationship between self-efficacy and SCD outcomes. Although there are few studies on this topic, most demonstrated positive correlations between self-efficacy during transition and positive patient outcomes in the SCD population. Additional studies are needed to support causation. Studies were commonly limited by small sample sizes and attrition. Furthermore, there is a large gap in the literature regarding how self-efficacy can be increased in these patients. Interventions that promote self-efficacy have the potential to improve SCD pain outcomes, but more research is needed to develop interventions to increase these adolescents' self-efficacy. If providers can identify individuals in this population with low self-efficacy, they may be able to intervene early to improve patient outcomes. Most identified studies point to the positive correlation between self-efficacy and positive health outcomes in adolescents with SCD. Self-efficacy has the potential to guide self-care interventions and further research with the SCD population. Copyright © 2015 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved.

  19. A call for policy action in sub-Saharan Africa to rethink diagnostics for pregnancy affected by sickle cell disease: differential views of medical doctors, parents and adult patients predict value conflicts in Cameroon.

    Science.gov (United States)

    Wonkam, Ambroise; Hurst, Samia

    2014-07-01

    Sickle cell disease (SCD) is a debilitating illness that affects the life expectancy of patients. It is possible to test for SCD before birth, to allow for reproductive options to parents. However, under Cameroonian Law, voluntary abortion is a criminal offense and medical abortion is permitted only "…if it is done by an authorized professional and justified by the need to save the mother from grave health jeopardy." The objective of the present study was to compare the views of Cameroonian doctors, parents with at least one living SCD-affected child, and adult SCD patients, regarding prenatal genetic diagnosis and termination of SCD-affected pregnancy. We conducted a quantitative sociological survey of 110 doctors, 130 parents, and 89 adult patients. The majority accepted the prenatal genetic diagnosis for SCD (78.7%, 89.8%, and 89.2%, respectively). Parents (62.5%) were more in favor of termination of SCD-affected pregnancy, than doctors and adults patients (36.1% and 40.9% acceptance, respectively). Parents and patients who found medical abortion acceptable cited fear to have a SCD-affected child (98.1 and 88.9%) and the poor quality of the affected child's health (92.6% and 81.5%). The data underscore the urgency of policy action to place emphasis on: premarital screening, early detection and care of SCD, socio-economic measures to assist SCD-affected families, appropriateness to consider maternal distress due to fetal anomalies in medical abortion legislation. These novel findings signal potential value-based conflicts on the horizon, and can usefully inform the future policy actions in the African continent as OMICS biotechnologies are increasingly employed in global health. To the best of our knowledge, the present study is the first attempt in sub-Saharan Africa to attempt to triangulate the views of multiple stakeholders towards prenatal diagnosis of SCD and termination of an affected pregnancy.

  20. Genome-wide association study of erythrocyte density in sickle cell disease patients.

    Science.gov (United States)

    Ilboudo, Yann; Bartolucci, Pablo; Rivera, Alicia; Sedzro, Josepha-Clara; Beaudoin, Mélissa; Trudel, Marie; Alper, Seth L; Brugnara, Carlo; Galactéros, Frédéric; Lettre, Guillaume

    2017-06-01

    Deoxy-hemoglobin S polymerization into rigid fibers is the direct cause of the clinical sequelae observed in sickle cell disease (SCD). The rate of polymerization of sickle hemoglobin is determined primarily by intracellular hemoglobin concentration, itself dependent on the amount of sickle hemoglobin and on red blood cell (RBC) volume. Dense, dehydrated RBC (DRBC) are observed in SCD patients, and their number correlates with hemolytic parameters and complications such as renal dysfunction, leg ulcers and priapism. To identify new genes involved in RBC hydration in SCD, we performed the first genome-wide association study for DRBC in 374 sickle cell anemia (HbSS) patients. We did not find genome-wide significant results, indicating that variants that modulate DRBC have modest-to-weak effects. A secondary analysis demonstrated a nominal association (P=0.003) between DRBC in SCD patients and a variant associated with mean corpuscular hemoglobin concentration (MCHC) in non-anemic individuals. This intronic variant controls the expression of ATP2B4, the main calcium pump in erythrocytes. Our study highlights ATP2B4 as a promising target for modulation of RBC hydration in SCD patients. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. How we treat delayed haemolytic transfusion reactions in patients with sickle cell disease.

    Science.gov (United States)

    Gardner, Kate; Hoppe, Carolyn; Mijovic, Aleksandar; Thein, Swee L

    2015-09-01

    Transfusion therapy is effective in the prevention and treatment of many complications of sickle cell disease (SCD). However, its benefits must be balanced against its risks, including delayed haemolytic transfusion reactions (DHTR). Not only is the relative rate of alloimmunization higher in patients with SCD than in other patient populations, but attendant risks associated with DHTR are even greater in SCD. Clinicians' awareness of DHTR events is poor because symptoms of DHTR mimic acute vaso-occlusive pain and immunohaematology findings are often negative. Transfusions delivered in the acute rather than elective setting appear to confer a higher risk of DHTR. Management of DHTR in SCD depends on the clinical severity, ranging from supportive care to immunosuppression, and optimization of erythropoiesis. DHTR must be considered in any recently transfused patient presenting with acute sickle cell pain. Meticulous documentation of transfusion and immunohaematology history is key. We anticipate an increase in DHTR events in SCD patients with the increasing use of red blood cell transfusion therapy. © 2015 John Wiley & Sons Ltd.

  2. Elevated soluble CD163 plasma levels are associated with disease severity in patients with hemorrhagic fever with renal syndrome.

    Directory of Open Access Journals (Sweden)

    Junning Wang

    Full Text Available Hantaan virus is a major zoonotic pathogen that causesing hemorrhagic fever with renal syndrome (HFRS. Although HFRS pathogenesis has not been entirely elucidated, the importance of host-related immune responses in HFRS pathogenesis has been widely recognized. CD163, a monocyte and macrophage-specific scavenger receptor that plays a vital function in the hosts can reduce inflammation, is shed during activation as soluble CD163 (sCD163. The aim of this study was to investigate the pathological significance of sCD163 in patients with HFRS.Blood samples were collected from 81 hospitalized patients in Tangdu Hospital from October 2011 to January 2014 and from 15 healthy controls. The sCD163 plasma levels were measured using a sandwich ELISA, and the relationship between sCD163 and disease severity was analyzed. Furthermore, CD163 expression in 3 monocytes subset was analyzed by flow cytometry.The results demonstrated that sCD163 plasma levels during the HFRS acute phase were significantly higher in patients than during the convalescent stage and the levels in the healthy controls (P<0.0001. The sCD163 plasma levels in the severe/critical group were higher than those in the mild/moderate group during the acute (P<0.0001. A Spearman correlation analysis indicated that the sCD163 levels were positively correlated with white blood cell, serum creatine, blood urea nitrogen levels, while they were negatively correlated with blood platelet levels in the HFRS patients. The monocyte subsets were significantly altered during the acute stage. Though the CD163 expression levels within the monocyte subsets were increased during the acute stage, the highest CD163 expression level was observed in the CD14++CD16+ monocytes when compared with the other monocyte subsets.sCD163 may be correlated with disease severity and the disease progression in HFRS patients; however, the underlying mechanisms should be explored further.

  3. Arterio-venous fistula for automated red blood cells exchange in patients with sickle cell disease: Complications and outcomes.

    Science.gov (United States)

    Delville, Marianne; Manceau, Sandra; Ait Abdallah, Nassim; Stolba, Jan; Awad, Sameh; Damy, Thibaud; Gellen, Barnabas; Sabbah, Laurent; Debbache, Karima; Audard, Vincent; Beaumont, Jean-Louis; Arnaud, Cécile; Chantalat-Auger, Christelle; Driss, Françoise; Lefrère, François; Cavazzana, Marina; Franco, Gilbert; Galacteros, Frederic; Ribeil, Jean-Antoine; Gellen-Dautremer, Justine

    2017-02-01

    Erythrocytapheresis (ER) can improve outcome in patients with sickle cell disease (SCD). A good vascular access is required but frequently it can be difficult to obtain for sickle cell patients. Arterio-venous fistulas (AVFs) have been suggested for ER in SCD supported by limited evidence. We report the largest cohort of ER performed with AVFs from three French SCD reference centers. Data of SCD patients undergoing ER with AVFs in the French SCD reference center were retrospectively collected. The inclusion criteria were: SS or Sβ-Thalassemia and AVF surgery for ER. SCD-related complications, transfusion history, details about AVF surgical procedure, echocardiographic data before and after AVF, AVF-related surgical and hemodynamical complications were collected. Twenty-six patients (mean age 20.5 years, mean follow-up 68 months [11-279]) were included. Twenty-three patients (88.5%) required central vascular access before AVF. Fifteen AVFs (58%) were created on the forearm and 11 (42%) on the arm. Nineteen patients (73%) had stenotic, thrombotic or infectious AVF complications. A total of 0.36 stenosis per 1,000 AVF days, 0.37 thrombosis per 1,000 AVF days and 0.078 infections per 1.000 AVF days were observed. The mean AVF lifespan was 51 months [13-218]. One patient with severe pulmonary hypertension worsened after AVF creation and died. We report the first series of SCD patients with AVF for ER, demonstrating that AVFs could be considered as a potential vascular access for ER. Patients with increased risk for hemodynamic intolerance of AVFs must be carefully identified, so that alternative vascular accesses can be considered. Am. J. Hematol. 92:136-140, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  4. Early occurrence of red blood cell alloimmunization in patients with sickle cell disease

    NARCIS (Netherlands)

    Sins, Joep W. R.; Biemond, Bart J.; van den Bersselaar, Sil M.; Heijboer, H.; Rijneveld, Anita W.; Cnossen, Marjon H.; Kerkhoffs, Jean-Louis H.; van Meurs, Alfred H.; von Ronnen, F. B.; Zalpuri, Saurabh; de Rijke, Yolanda B.; Ellen van der Schoot, C.; de Haas, Masja; van der Bom, Johanna G.; Fijnvandraat, Karin

    2016-01-01

    Red blood cell (RBC) alloimmunization is a major complication of transfusion therapy in sickle cell disease (SCD). Identification of high-risk patients is hampered by lack of studies that take the cumulative transfusion exposure into account. In this retrospective cohort study among previously

  5. Mortality rate in Sickle Cell Disease Patients in Crisis at a ...

    African Journals Online (AJOL)

    The Haematology Day Care Unit (HDCU) of the University College Hospital, Ibadan, Nigeria was established in 1975 with the main goal of providing immediate and specialized care to haematological emergencies, particularly sickle cell disease (SCD) patients. Since inception, a systematic analysis of its effectiveness has ...

  6. IMPACT OF MANNOSE-BINDING PROTEIN GENE POLYMORPHISMS IN OMANI SICKLE CELL DISEASE PATIENTS

    Directory of Open Access Journals (Sweden)

    Mathew Zachariah

    2016-02-01

    Full Text Available Objectives: Our objective was to study mannose binding protein (MBP polymorphisms in exonic and promoter region and correlate associated infections and vasoocculsive (VOC episodes, since MBP plays an important role in innate immunity by activating the complement system. Methods: We studied the genetic polymorphisms in the Exon 1 (alleles A/O and promoter region (alleles Y/X; H/L, P/Q of the MBL2 gene, in sickle cell disease (SCD patients as increased incidence of infections is seen in these patients. A PCR-based, targeted genomic DNA sequencing of MBL2 was used to study 68 SCD Omani patients and 44 controls (voluntary blood donors. Results: The observed frequencies of MBL2 promoter polymorphism (-221, Y/X were 44.4% and 20.5% for the heterozygous genotype Y/X and 3.2% and 2.2% for the homozygous (X/X respectively between SCD patients and controls. MBL2 Exon1 gene mutations were 29.4% and 50% for the heterozygous genotype A/O and 5.9% and 6.8% respectively for the homozygous (O/O genotype between SCD patients and controls. The distribution of variant MBL2 polymorphisms did not show any correlation in SCD patients with or without vasoocculsive crisis (VOC attacks (p=0.162; OR-0.486; CI=0.177 -1.33, however, it was correlated with infections (p=0.0162; OR-3.55; CI 1.25-10.04. Conclusions: Although the frequency of the genotypes and haplotypes of MBL2 in SCD patients did not differ from controls, overall in the SCD patient cohort the increased representation of variant alleles was significantly correlated with infections (p<0.05. However, these variant MBL2 polymorphisms did not seem to play a significant role in the VOC episodes in this SCD cohort. Keywords: Mannose-binding lectin, polymorphism, promoter, Sickle cell disease, MBL2, MBP

  7. Best practices for transfusion for patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Ted Wun

    2010-01-01

    Full Text Available The beta-globin gene mutation in sickle cell anemia results in anemia and repeated bouts of vascular occlusion. The cumulative effect of these vasocclusive events is progressive damage to many organs including the kidneys, lungs, and brain. The transfusion of red blood cells (RBC can ameliorate many of these complications, but can be associated with both acute and chronic complications, including iron overload. The objective of the Best Practices in Transfusion Medicine for Patients with Sickle Cell Disease (SCD Conference was to review the available published evidence and clinical experience surrounding the use of RBC transfusions for sickle cell disease by a panel of experts. The expert panel developed explicit clinical guidelines for the use of RBC in SCD patients. The panel also made recommendations for further research.  A set of guidelines were produced for dissemination to pertinent stakeholders. If implemented, these clinical pathways have the potential to optimize the use of red blood cell transfusions in SCD.

  8. Unruptured intracranial aneurysms in children with sickle cell disease: analysis of 18 aneurysms in 5 patients.

    Science.gov (United States)

    Saini, Surbhi; Speller-Brown, Barbara; Wyse, Emily; Meier, Emily R; Carpenter, Jessica; Fasano, Ross M; Pearl, Monica S

    2015-05-01

    Intracranial aneurysms (IAs) are rare in the general pediatric population and account for <2% of all cerebral aneurysms. Only 7 children with sickle hemoglobinopathy and IAs have been reported, the majority of which were discovered after rupture. To report the prevalence of unruptured IAs in a selected population of children with sickle cell disease (SCD) and to describe the aneurysm morphology, hematologic characteristics, and management in this patient population. A retrospective review of the electronic database for all children with SCD who underwent brain magnetic resonance imaging or angiography from January 2002 to August 2013 at a single institution was performed. Records were reviewed for IA, age, sex, sickle cell genotype, neurological symptoms, hematologic indexes, transcranial Doppler findings, and management. Five of 179 children (2.8%) with SCD imaged by brain magnetic resonance imaging or angiography were diagnosed with IAs. None presented with subarachnoid hemorrhage. Four patients (80%) had HbSS disease, and 1 patient had hemoglobin sickle cell HbSC disease. A total of 18 aneurysms were detected; the majority of patients had multiple aneurysms (80%) and bilateral involvement (60%). Children with SCD are at risk for developing multiple intracranial aneurysms, and a high index of suspicion must be maintained during the interpretation of routine magnetic resonance imaging or angiography of the brain.

  9. Oxidative stress in sickle cell disease; pathophysiology and potential implications for disease management.

    Science.gov (United States)

    Nur, Erfan; Biemond, Bart J; Otten, Hans-Martin; Brandjes, Dees P; Schnog, John-John B

    2011-06-01

    Sickle cell disease (SCD) is a hemoglobinopathy characterized by hemolytic anemia, increased susceptibility to infections and vaso-occlusion leading to a reduced quality of life and life expectancy. Oxidative stress is an important feature of SCD and plays a significant role in the pathophysiology of hemolysis, vaso-occlusion and ensuing organ damage in sickle cell patients. Reactive oxygen species (ROS) and the (end-)products of their oxidative reactions are potential markers of disease severity and could be targets for antioxidant therapies. This review will summarize the role of ROS in SCD and their potential implication for SCD management. Copyright © 2011 Wiley-Liss, Inc.

  10. Effectiveness of surgical revascularization for stroke prevention in pediatric patients with sickle cell disease and moyamoya syndrome.

    Science.gov (United States)

    Yang, Wuyang; Xu, Risheng; Porras, Jose L; Takemoto, Clifford M; Khalid, Syed; Garzon-Muvdi, Tomas; Caplan, Justin M; Colby, Geoffrey P; Coon, Alexander L; Tamargo, Rafael J; Huang, Judy; Ahn, Edward S

    2017-09-01

    OBJECTIVE Sickle cell disease (SCD) in combination with moyamoya syndrome (MMS) represents a rare complication of SCD, with potentially devastating neurological outcomes. The effectiveness of surgical revascularization in this patient population is currently unclear. The authors' aim was to determine the effectiveness of surgical intervention in their series of SCD-MMS patients by comparing stroke recurrence in those undergoing revascularization and those undergoing conservative transfusion therapy. METHODS The authors performed a retrospective chart review of patients with MMS who were seen at the Johns Hopkins Medical Institution between 1990 and 2013. Pediatric patients (age < 18 years) with confirmed diagnoses of SCD and MMS were included. Intracranial stroke occurrence during the follow-up period was compared between surgically and conservatively managed patients. RESULTS A total of 15 pediatric SCD-MMS patients (28 affected hemispheres) were included in this study, and all were African American. Seven patients (12 hemispheres) were treated with indirect surgical revascularization. The average age at MMS diagnosis was 9.0 ± 4.0 years, and 9 patients (60.0%) were female. Fourteen patients (93.3%) had strokes before diagnosis of MMS, with an average age at first stroke of 6.6 ± 3.9 years. During an average follow-up period of 11.6 years, 4 patients in the conservative treatment group experienced strokes in 5 hemispheres, whereas no patient undergoing the revascularization procedure had any strokes at follow-up (p = 0.029). Three patients experienced immediate postoperative transient ischemic attacks, but all recovered without subsequent strokes. CONCLUSIONS Indirect revascularization is suggested as a safe and effective alternative to the best medical therapy alone in patients with SCD-MMS. High-risk patients managed on a regimen of chronic transfusion should be considered for indirect revascularization to maximize the effect of stroke prevention.

  11. Socio-demographic characteristics and psychosocial consequences of sickle cell disease: the case of patients in a public hospital in Ghana.

    Science.gov (United States)

    Adzika, Vincent A; Glozah, Franklin N; Ayim-Aboagye, Desmond; Ahorlu, Collins S K

    2017-01-31

    Sickle cell disease (SCD) is of major public health concern globally, with majority of patients living in Africa. Despite its relevance, there is a dearth of research to determine the socio-demographic distribution and psychosocial impact of SCD in Ghana. The objective of this study was to examine the socio-demographic distribution and psychosocial consequences of SCD among patients in Ghana and to assess their quality of life and coping mechanisms. A cross-sectional research design was used that involved the completion of questionnaires on socio-demographic characteristics, quality of life, coping mechanisms, anxiety and depression. Participants were 387 male and female patients attending a sickle cell clinic in a public hospital. Results showed that majority of the patients were single, female, less than 39 years old and had attained secondary school level of education or less. Also, patients were more satisfied by the presence of love, friends and relatives as well as home, community and neighbourhood environment. While pains of varied nature and severity were the major reasons for attending hospital in SCD condition, going to the hospital as well as having faith in God was the most frequently reported mechanisms for coping with an unbearable SCD attacks. Results of multiple regression analysis showed that some socio-demographic and quality of life indicators had strong associations with anxiety and/or depression. It is recommended that a holistic intervention strategy incorporating psychosocial dimensions should be considered in the treatment and management of SCD.

  12. Variant RH alleles and Rh immunisation in patients with sickle cell disease.

    Science.gov (United States)

    Sippert, Emilia; Fujita, Claudia R; Machado, Debora; Guelsin, Glaucia; Gaspardi, Ane C; Pellegrino, Jordão; Gilli, Simone; Saad, Sara S T O; Castilho, Lilian

    2015-01-01

    Alloimmunisation is a major complication in patients with sickle cell disease (SCD) receiving red blood cell (RBC) transfusions and despite provision of Rh phenotyped RBC units, Rh antibodies still occur. These antibodies in patients positive for the corresponding Rh antigen are considered autoantibodies in many cases but variant RH alleles found in SCD patients can also contribute to Rh alloimmunisation. In this study, we characterised variant RH alleles in 31 SCD patients who made antibodies to Rh antigens despite antigen-positive status and evaluated the clinical significance of the antibodies produced. RHD and RHCE BeadChip™ from BioArray Solutions and/or amplification and sequencing of exons were used to identify the RH variants. The serological features of all Rh antibodies in antigen-positive patients were analysed and the clinical significance of the antibodies was evaluated by retrospective analysis of the haemoglobin (Hb) levels before and after transfusion; the change from baseline pre-transfusion Hb and the percentage of HbS were also determined. We identified variant RH alleles in 31/48 (65%) of SCD patients with Rh antibodies. Molecular analyses revealed the presence of partial RHD alleles and variant RHCE alleles associated with altered C and e antigens. Five patients were compound heterozygotes for RHD and RHCE variants. Retrospective analysis showed that 42% of antibodies produced by the patients with RH variants were involved in delayed haemolytic transfusion reactions or decreased survival of transfused RBC. In this study, we found that Rh antibodies in SCD patients with RH variants can be clinically significant and, therefore, matching patients based on RH variants should be considered.

  13. Sickle cell disease : Pathogenesis and biomarkers

    NARCIS (Netherlands)

    Schimmel, M.

    2017-01-01

    Sickle cell disease (SCD) is a monogenetic disease wherein the haemoglobin complex of erythrocytes is affected, resulting in sickle haemoglobin. Sickle cell patients suffer from haemolytic anaemia, recurrent painful (micro)-vascular occlusions, secondary organ damage and early death. The

  14. CD209-336A/G promotor polymorphism and its clinical associations in sickle cell disease Egyptian Pediatric patients.

    Science.gov (United States)

    Afifi, Rasha Abdel-Raouf; Kamal, Dina; Sayed, Riham El; Ekladious, Sherif M M; Shaheen, Gehan H; Yousry, Sherif M; Hussein, Rania Elsayed

    2017-10-26

    To detect the frequency of CD209 A>G polymorphism in sickle cell disease (SCD) Egyptian patients and to evaluate the use of CD209 A>G polymorphism as a genetic predictor of SCD clinical heterogeneity. A total of 100 Egyptian children with SCD and 100 Egyptian controls were tested for CD209 A>G polymorphism and were followed up prospectively between June 2012 and December 2014. Comparison of CD209 A>G polymorphism among cases and controls did not show statistically significant difference (p = .742). In addition, comparison of the allelic frequency did not show statistically significant difference (p = .738). Infections occurred more frequently among the heterozygous genotype (AG; 60.5%) and homozygous genotype (GG; 75%) patients than among the wild (AA) genotype (24.1%; p G polymorphism. Infections occurred more frequently among the heterozygous genotype (AG) and homozygous genotype (GG) patients. Copyright © 2017. Published by Elsevier B.V.

  15. Coexistent Sickle Cell Disease Has No Impact on the Safety or Outcome of Lytic Therapy in Acute Ischemic Stroke: Findings From Get With The Guidelines-Stroke.

    Science.gov (United States)

    Adams, Robert J; Cox, Margueritte; Ozark, Shelly D; Kanter, Julie; Schulte, Phillip J; Xian, Ying; Fonarow, Gregg C; Smith, Eric E; Schwamm, Lee H

    2017-03-01

    The recommended treatment for ischemic stroke is tPA (tissue-type plasminogen activator). Although sickle cell disease (SCD) represents no known contraindication to tPA, National Heart Lung and Blood Institute of the National Institutes of Health recommended acute exchange transfusion for stroke in SCD, not tPA. Data on safety and outcomes of tPA in patients are needed to guide tPA use in SCD. We matched patients from the American Heart Association and American Stroke Association Get With The Guidelines-Stroke registry with SCD to patients without SCD and compared usage, complications, and discharge outcomes after tPA. Multivariable logistic regression models using generalized estimating equations were used to assess outcomes. From 2 016 652 stroke patients admitted to Get With The Guidelines-Stroke sites in the United States, 832 SCD and 3328 non-SCD controls with no differences in admission National Institutes of Health Stroke Scale or blood pressure were identified. Neither the fraction receiving thrombolytic therapy (8.2% for SCD versus 9.4% non-SCD) nor symptomatic intracranial hemorrhage (4.9% of SCD versus 3.2% non-SCD; P =0.4502) was different. There was no difference in a prespecified set of outcome measures for those with SCD compared with controls. Coexistent SCD had no significant impact on the safety or outcome of thrombolytic therapy in acute ischemic stroke. Although the sample size is relatively small, these data suggest that adults with SCD and acute ischemic stroke should be treated with thrombolysis, if they otherwise qualify. Addition studies, however, should track the intracranial hemorrhage rate and provide information on other SCD-related care such as transfusion. © 2017 American Heart Association, Inc.

  16. Six Months of Hydroxyurea Reduces Albuminuria in Patients with Sickle Cell Disease

    Science.gov (United States)

    Habibi, Anoosha; Stehlé, Thomas; Di Liberto, Gaetana; Rakotoson, Marie Georgine; Gellen-Dautremer, Justine; Loric, Sylvain; Moutereau, Stéphane; Sahali, Dil; Wagner-Ballon, Orianne; Remy, Philippe; Lang, Philippe; Grimbert, Philippe; Audureau, Etienne; Godeau, Bertrand; Galacteros, Frédéric

    2016-01-01

    The earliest symptom of glomerular injury in patients with sickle cell disease (SCD) is microalbuminuria. The effect of hydroxyurea (HU) on urine albumin-to-creatinine ratio (ACR) is unclear and should be determined, because increasing numbers of patients with SCD take this drug to improve red blood cell function. In this cohort study of 58 SS-homozygous adults with SCD who initiated HU therapy, we evaluated ACR changes and relationships of these changes with demographic, clinical, and biologic parameters at HU initiation (baseline) and 6 months later (follow-up). Between baseline and follow-up, ACR declined significantly for the entire population (3.0–1.7 mg/mmol; P<0.01), but this was primarily driven by the ACR reduction in the microalbuminuria subgroup (8.1–2.3 mg/mmol; P=0.03; n=23). According to bivariate analyses on 39 patients who did not receive a blood transfusion during the study period, the baseline to follow-up ACR decline was strongly associated with decreases in levels of hemolysis markers, percentage of dense red blood cells, and systolic BP. Bivariate analysis also revealed a close association between the ACR decrease and high baseline levels of hemolysis markers and percentage of dense red blood cells. These results show that urine ACR decreased significantly after 6 months of HU and confirm a close relationship between ACR and hemolysis evolution in patients with SCD. PMID:26586692

  17. The Severity of Visceral Leishmaniasis Correlates with Elevated Levels of Serum IL-6, IL-27 and sCD14.

    Directory of Open Access Journals (Sweden)

    Priscila L Dos Santos

    2016-01-01

    Full Text Available Visceral leishmaniasis (VL is a severe disease caused by infection with protozoa of the genus Leishmania. Classic VL is characterized by a systemic infection of phagocytic cells and an intense activation of the inflammatory response. It is unclear why 90% of infected individuals do not develop the disease while a minority develop the classical form. Furthermore, among those that develop disease, a small group progresses to more severe form that is unresponsive to treatment. The presence of inflammatory mediators in serum could theoretically help to control the infection. However, there is also a release of anti-inflammatory mediators that could interfere with the control of parasite multiplication. In this study, we took advantage of the spectrum of outcomes to test the hypothesis that the immune profile of individuals infected with Leishmania (L. infantum is associated with the development and severity of disease.Sera from patients with confirmed diagnosis of VL were evaluated for the presence of numerous molecules, and levels compared with healthy control and asymptomatic infected individuals.Although differences were not observed in LPS levels, higher levels of sCD14 were detected in VL patients. Our data suggest that L. infantum may activate the inflammatory response via CD14, stimulating a generalized inflammatory response with production of several cytokines and soluble molecules, including IFN-γ, IL-27, IL-10, IL-6 and sCD14. These molecules were strongly associated with hepatosplenomegaly, neutropenia and thrombocytopenia. We also observed that IL-6 levels greater than 200 pg/ml were strongly associated with death. Together our data reinforce the close relationship of IFN-γ, IL-10, IL-6, TNF-α and IL-27 in the immune dynamics of VL and suggest the direct participation of sCD14 in the activation of the immune response against L. infantum.

  18. Orbital and attitude evolution of SCD-1 and SCD-2 Brazilian satellites

    Science.gov (United States)

    Murcia, J. O.; Carrara, V.; Kuga, H. K.

    2017-10-01

    The SCD-1 and SCD-2 satellites were launched in 1993 and 1998, respectively, with use of the Launcher “Pegasus” of the OSC (Orbital Sciences Corporation). 21 and 16 years later, the satellites are still in orbit around the Earth and providing data for users. Mission and Operational data from Satellite Tracking Center Network are stored in mission files in the Satellite Control Center (SCC) and made available to the users. The SCC also stores history files of the satellite orbit and attitude ephemeris, besides the on-board telemetry, temperatures, equipment status, etc. This work will present some analysis of the orbit ephemeris evolution based upon the Two-Line Elements sets (TLE’s) obtained from NORAD (North American Aerospace Defense Command). Attitude evolution along time is also presented for both satellites from SCC data. The orbit decay will be explained as resulting mainly due to the solar activity during the satellite lifetime. This work aims to report the history of more than 20 years of continuous operation of SCD-1 and SCD-2. At the end, an estimation of the orbital decay is forecast with the use of NASA’s DAS software.

  19. Psychopathology in Sickle Cell Disease

    African Journals Online (AJOL)

    We reviewed the existing literature regarding the psychological sequelae among patients with SCD. We then recommend how to better identify and treat psychopathology associated with this condition. Keywords: Sickle cell disease, Psychopathology, Depression,. Anxiety, Psychosis, Posttraumatic stress disorder PTSD.

  20. Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India.

    Science.gov (United States)

    Nishank, Sudhansu Sekhar; Singh, Mendi Prema Shyam Sunder; Yadav, Rajiv

    2013-11-01

    It is known that patients with sickle cell disease (SCD) present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises and also during the steady state of the disease. We determined whether the presence of the factor prothrombin gene G20210A variant, factor V gene G1691A mutation (factor V Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms may be risk factors for vascular complications in individuals with SCD. The study involved 150 patients with sickle cell anemia and 150 healthy controls of Central India. Genotyping of three thrombophilic mutations was carried out by PCR-RFLP methods using MnlI, Hind III, and Hinf I, respectively, for factor V Leiden, prothrombin, and MTHFR mutations. Patients with SCD had significantly higher prevalence of mutant variants of MTHFR gene (28.0% heterozygotes and 14.6% homozygotes) and FVL gene (14.6% heterozygotes) as compared to normal/control individuals, but complete absence of mutant variants of prothrombin gene. The patients with SCD having mutant variants of MTHFR and FVL genes showed higher incidence of pain in chest, abdomen, and bone joints along with early age of onset of clinical manifestations as well as frequent dependence on blood transfusion than those patients with SCD having wild variants of these thrombotic genes. As compared to control subjects, SCD individuals having mutant variants of FVL and MTHFR genes had significant association with higher levels of prothrombin fragment (F1+2), D-dimer, thrombin-antithrombin (TAT), and lower level of protein C. MTHFR C677T and FVL G1691A polymorphisms may be risk factors for increased vascular complications in patient with SCD. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Evaluation of SCD and FASN Gene Expression in Baluchi, Iran-Black, and Arman Sheep

    Directory of Open Access Journals (Sweden)

    Mohammad Salmani Izadi

    2016-10-01

    Full Text Available Background: With the increasing concern for health and nutrition, dietary fat has attracted considerable attention. The composition of fatty acids in the diet is important because they are associated with major diseases including cancers, diabetes, and cardiovascular disease. The fatty acid synthase (FASN and stearoyl-CoA desaturase (delta-9-desaturase (SCD genes affect fatty acid composition (1. The expression of SCD and FASN genes is related to an increase in conjugated linoleic acid (CLA in dairy products, which benefits human health.The aim of current study was to investigate expression changes of SCD and FASN genes that resulted from crossbreeding the local Baluchi sheep with alien breeds. Methods: We collected tissue samples from the mammary glands of 24 single-born ewes from local Baluchi and synthetic Iran-Black and Arman sheep breeds in the Abbas Abad breeding center. After RNA extraction and cDNA synthesis, real-time PCR was performed with all samples in triplicate. Results:The maximum and minimum expression of SCD and FASN genes was in the local Baluchi sheep and the crossbred Arman sheep, respectively. Conclusions: With the highest SCD and FASN gene expression in local Baluchi sheep and relatively less expression of these genes in synthetic Iran-Black and Arman Sheep breeds, it may be necessary to consider the consequences of crossbreeding local sheep and the fatty acid composition of their dairy products.

  2. Sickle cell disease patients in eastern province of Saudi Arabia suffer less severe acute chest syndrome than patients with African haplotypes

    Directory of Open Access Journals (Sweden)

    Alabdulaali M

    2007-01-01

    Full Text Available Background and Objectives : Genetic studies suggest that the sickle cell mutation has arisen on at least four separate occasions in Africa and as a fifth independent mutation in the Eastern Province of Saudi Arabia or India. The pathophysiology of sickle cell disease (SCD is essentially similar in these different areas although the frequency and severity of complications may vary between areas. The aim of this study was to evaluate the prevalence and outcome of acute chest syndrome (ACS in SCD patients from Eastern province of Saudi Arabia in comparison with patients with African haplotypes. Materials and Methods : This was a retrospective study involving 317 SCD patients who were two years or older, admitted to King Fahad Hospital Hofuf between January-May 2003 for different etiologies. Twenty six patients presented with different causes of ACS; 11 patients presented with different pathologies other than ACS, but had past history of ACS; 280 patients presented with different pathologies and never presented with ACS. Clinical features, CBC, Hb-electrophoresis, G6PD activity, cultures, chest X-ray, arterial oxygen saturation, blood transfusion rates and outcome were studied. Univariate and multiple regression analysis were carried out to evaluate influence on ACS. Comparison between SCD patients with ACS from this study and from Eastern province of Saudi Arabia to patients with African haplotypes were carried out, using data reported in the literature. Results : During the period of this study, 37 patients with new or previous episodes of ACS were studied (accounting for 11.67% of admitted SCD patients. Most of the patients with ACS had only one episode, but five patients (13.51% had had episodes or more. One patient died giving an in-hospital mortality rate of 1/26 (3.85%. Comparison of recurrence of ACS and mortality between SCD patients in Eastern province of Saudi Arabia to that of patients with African haplotype showed that recurrence is

  3. Quality of life in patients with sickle cell disease in Jamaica: rural-urban differences.

    Science.gov (United States)

    Asnani, Monika R; Reid, Marvin E; Ali, Susanna B; Lipps, Garth; Williams-Green, Pauline

    2008-01-01

    Quality of life (QOL) refers to people's ability to function in the ordinary tasks of living. It moves beyond direct manifestations of illness to the patient's personal morbidity. These assessments are an important aspect of chronic disease management. Sickle cell disease (SCD) is a chronic and potentially, quite a debilitating disease. The disease is severe and may result in significant morbidity, as well as a shortened life span. It is the most common genetic disorder seen in Jamaica and impacts on physical, psychological, social and occupational wellbeing. Jamaica is a developing country where support systems that exist for patients with SCD are sparse. Health related QOL has been shown to be poorer in people living in the rural areas as compared with urban populations. Utilization of comprehensive sickle cells disease services has also been shown to be lower for individuals with the disease living in rural areas than for those living in urban areas. As there are rural-urban differences in Jamaica's health services, it is hypothesized that there may be rural-urban differences in the experiences of the disease and the QOL of these patients in these subgroups. The SF 36 v2 (Short Form 36) questionnaire has been validated for use in the Jamaican SCD population. This validated questionnaire was interviewer-administered to 166 patients presenting to an urban clinic for routine health maintenance visits and to 90 patients presenting to the rural clinics for routine visits. Socio-demographic information was also collected on these two groups. Multiple linear regression analyses were performed to study predictors of QOL in these two sub-populations. The study received ethical approval from the University of the West Indies/University Hospital of the West Indies Ethics Committee. There were no significant differences in the measured socio-demographic characteristics of the rural and urban patients. Living in rural areas compared with urban areas (p <0.001), being

  4. Attitudes toward Management of Sickle Cell Disease and Its Complications: A National Survey of Academic Family Physicians

    Directory of Open Access Journals (Sweden)

    Arch G. Mainous

    2015-01-01

    Full Text Available Objective. Sickle cell disease (SCD is a disease that requires a significant degree of medical intervention, and family physicians are one potential provider of care for patients who do not have access to specialists. The extent to which family physicians are comfortable with the treatment of and concerned about potential complications of SCD among their patients is unclear. Our purpose was to examine family physician’s attitudes toward SCD management. Methods. Data was collected as part of the Council of Academic Family Medicine Educational Research Alliance (CERA survey in the United States and Canada that targeted family physicians who were members of CERA-affiliated organizations. We examined attitudes regarding management of SCD. Results. Overall, 20.4% of respondents felt comfortable with treatment of SCD. There were significant differences in comfort level for treatment of SCD patients depending on whether or not physicians had patients who had SCD, as well as physicians who had more than 10% African American patients. Physicians also felt that clinical decision support (CDS tools would be useful for treatment (69.4% and avoiding complications (72.6% in managing SCD patients. Conclusions. Family physicians are generally uncomfortable with managing SCD patients and recognize the utility of CDS tools in managing patients.

  5. Double disadvantage: a case control study on health-related quality of life in children with sickle cell disease

    NARCIS (Netherlands)

    Hijmans, Channa T.; Fijnvandraat, Karin; Oosterlaan, Jaap; Heijboer, Harriët; Peters, Marjolein; Grootenhuis, Martha A.

    2010-01-01

    Low health-related quality of life (HRQoL) of children with sickle cell disease (SCD) may be associated with consequences of the disease, or with the low socio-economic status (SES) of this patient population. The aim of this study was to investigate the HRQoL of children with SCD, controlling for

  6. Double disadvantage: A case control study on health-related quality of life in children with sickle cell disease.

    NARCIS (Netherlands)

    Hijmans, C.T.; Fijnvandraat, K.; Oosterlaan, J.; Heijboer, H.; Peters, M.; Grootenhuis, M.A.

    2010-01-01

    Background: Low health-related quality of life (HRQoL) of children with sickle cell disease (SCD) may be associated with consequences of the disease, or with the low socio-economic status (SES) of this patient population. The aim of this study was to investigate the HRQoL of children with SCD,

  7. Hospitalist management of vaso-occlusive pain crisis in patients with sickle cell disease using a pathway of care.

    Science.gov (United States)

    Allen Liles, Edmund; Kirsch, Jonathan; Gilchrist, Michael; Adem, Mukhtar

    2014-04-01

    Patients with sickle cell disease (SCD) suffer from intermittent vaso-occlusive pain crises (VOCs). These crises lead to frequent hospitalizations, significant morbidity, and increased mortality risk. Care pathways can enhance efficiency and quality of care. Our study sought to evaluate the development and implementation of a care pathway for patients with SCD experiencing VOCs. The University of North Carolina (UNC) Comprehensive Sickle Cell Program provides all levels of care for a large population of patients with sickle cell anemia. All patients admitted to UNC Hospitals with SCD VOCs from January 2009 through June 2011 were evaluated. During this time period, we also assessed sequential prospective cohorts during progressive phases of developing and implementing a quality improvement and pathway of care program for this patient population in our study. The developed pathway entailed geographic localization for VOC patients, a single group of faculty physicians caring for these patients, and early use of patient-controlled analgesia (PCA) to achieve pain control. Physicians from the UNC Hospital Medicine Program were responsible for the initiatives. Cohorts were compared to a baseline historical control. Outcomes of interest included patient length of stay (LOS) in the hospital, 30-day readmission rate, need for transfusion, incidence of acute chest syndrome, use of naloxone, and use of PCA. Compared with an historical baseline cohort, the development and implementation of a VOC care pathway for patients with SCD led to reduction in average hospital LOS by 1.44 days (P management of patients with SCD VOCs using a care pathway that emphasizes early, aggressive PCA-based pain control is associated with reduced hospital LOS. The LOS reduction seen in our study is clinically meaningful. Notably, other measures of patient outcomes and quality of care metrics did not change significantly, and some trended towards improvement.

  8. Serum Levels of Platelet Released CD40 Ligand Are Increased in Early Onset Occlusive Carotid Artery Disease

    Directory of Open Access Journals (Sweden)

    József Balla

    2006-01-01

    Full Text Available Objective: Soluble CD40 ligand (sCD40L has been suggested as a key mediator between inflammation and atherosclerosis, and the CD40-CD40L interaction has a role in atherosclerotic lesion progression. We evaluated if platelet released serum sCD40L and sCD40 levels differ between patients with early onset occlusive carotid artery disease and age-matched controls.

  9. Three family members with elevated plasma cobalamin, transcobalamin and soluble transcobalamin receptor (sCD320)

    DEFF Research Database (Denmark)

    Hoffmann-Lücke, Elke; Arendt, Johan F B; Nissen, Peter H

    2013-01-01

    symptoms, her son and her daughter. Mother and son both suffered from myotonic dystrophy type II, while the daughter tested negative for this disease. Blood samples were analyzed for cobalamin, haptocorrin, transcobalamin, holoTC, and sCD320. We employed gel filtration and antibody precipitation...

  10. Elevated homocysteine levels indicate suboptimal folate status in pediatric sickle cell patients

    NARCIS (Netherlands)

    van der Dijs, FPL; Schnog, JJB; Brouwer, DAJ; Velvis, HJR; van den Berg, GA; Bakker, AJ; Duits, AJ; Muskiet, FD

    1998-01-01

    We investigated whether pediatric patients with sickle cell disease (SCD) (9 +/- 4 years; 27 homozygous SCD [HbSS]; 19 sickle-C disease [HbSC]) have different folate status compared with age-, sex-, and race-matched normal hemoglobin (HbAA) controls (n = 20), and whether their folate status can be

  11. Elevated stearoyl-CoA desaturase in brains of patients with Alzheimer's disease.

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    Giuseppe Astarita

    Full Text Available The molecular bases of Alzheimer's disease (AD remain unclear. We used a lipidomic approach to identify lipid abnormalities in the brains of subjects with AD (N = 37 compared to age-matched controls (N = 17. The analyses revealed statistically detectable elevations in levels of non-esterified monounsaturated fatty acids (MUFAs and mead acid (20:3n-9 in mid-frontal cortex, temporal cortex and hippocampus of AD patients. Further studies showed that brain mRNAs encoding for isoforms of the rate-limiting enzyme in MUFAs biosynthesis, stearoyl-CoA desaturase (SCD-1, SCD-5a and SCD-5b, were elevated in subjects with AD. The monounsaturated/saturated fatty acid ratio ('desaturation index'--displayed a strong negative correlation with measures of cognition: the Mini Mental State Examination test (r = -0.80; P = 0.0001 and the Boston Naming test (r = -0.57; P = 0.0071. Our results reveal a previously unrecognized role for the lipogenic enzyme SCD in AD.

  12. Autologous bone marrow stromal cells are promising candidates for cell therapy approaches to treat bone degeneration in sickle cell disease.

    Science.gov (United States)

    Lebouvier, Angélique; Poignard, Alexandre; Coquelin-Salsac, Laura; Léotot, Julie; Homma, Yasuhiro; Jullien, Nicolas; Bierling, Philippe; Galactéros, Frédéric; Hernigou, Philippe; Chevallier, Nathalie; Rouard, Hélène

    2015-11-01

    Osteonecrosis of the femoral head is a frequent complication in adult patients with sickle cell disease (SCD). To delay hip arthroplasty, core decompression combined with concentrated total bone marrow (BM) treatment is currently performed in the early stages of the osteonecrosis. Cell therapy efficacy depends on the quantity of implanted BM stromal cells. For this reason, expanded bone marrow stromal cells (BMSCs, also known as bone marrow derived mesenchymal stem cells) can be used to improve osteonecrosis treatment in SCD patients. In this study, we quantitatively and qualitatively evaluated the function of BMSCs isolated from a large number of SCD patients with osteonecrosis (SCD-ON) compared with control groups (patients with osteonecrosis not related to SCD (ON) and normal donors (N)). BM total nuclear cells and colony-forming efficiency values (CFE) were significantly higher in SCD-ON patients than in age and sex-matched controls. The BMSCs from SCD-ON patients were similar to BMSCs from the control groups in terms of their phenotypic and functional properties. SCD-ON patients have a higher frequency of BMSCs that retain their bone regeneration potential. Our findings suggest that BMSCs isolated from SCD-ON patients can be used clinically in cell therapy approaches. This work provides important preclinical data that is necessary for the clinical application of expanded BMSCs in advanced therapies and medical products.

  13. Anaesthetic implications of laparoscopic splenectomy in patients with sickle cell anaemia.

    LENUS (Irish Health Repository)

    Doodnath, R

    2012-02-01

    With the increasing immigrant population in the Republic of Ireland, the number of patients with sickle cell disease (SCD) seen in the paediatric hospitals is climbing. In this case report, we review the anaesthetic implications and outcome of the first two paediatric patients with SCD to have a laparoscopic splenectomy due to repeated splenic infarcts in the Republic of Ireland.

  14. Anaesthetic implications of laparoscopic splenectomy in patients with sickle cell anaemia.

    LENUS (Irish Health Repository)

    Doodnath, R.

    2010-04-01

    With the increasing immigrant population in the Republic of Ireland, the number of patients with sickle cell disease (SCD) seen in the paediatric hospitals is climbing. In this case report, we review the anaesthetic implications and outcome of the first two paediatric patients with SCD to have a laparoscopic splenectomy due to repeated splenic infarcts in the Republic of Ireland.

  15. Exercise tolerance, lung function abnormalities, anemia, and cardiothoracic ratio in sickle cell patients

    NARCIS (Netherlands)

    van Beers, Eduard J.; van der Plas, Mart N.; Nur, Erfan; Bogaard, Harm-Jan; van Steenwijk, Reindert P.; Biemond, Bart J.; Bresser, Paul

    2014-01-01

    Many patients with sickle cell disease (SCD) have a reduced exercise capacity and abnormal lung function. Cardiopulmonary exercise testing (CPET) can identify causes of exercise limitation. Forty-four consecutive SCD patients (27 HbSS, 11 HbSC, and 6 HbS-beta thalassemia) with a median age

  16. Proteinuria in adult Saudi patients with sickle cell disease is not associated with identifiable risk factors.

    Science.gov (United States)

    Aleem, Aamer

    2010-09-01

    Renal involvement in patients with sickle cell disease (SCD) is associated with significant morbidity and mortality. Proteinuria is common in patients with SCD and is a risk factor for future development of renal failure. We sought to identify risk factors, if any, associated with proteinuria in adult Saudi patients with SCD. We studied 67 patients with SCD followed-up at the King Khalid University Hospital, Riyadh, Saudi Arabia. All patients underwent 24-hour urine collection to measure creatinine clearance and to quantify proteinuria. In addition, blood was examined for evaluation of hematological and biochemical parameters. Clinical information was gathered from review of the patients' charts. A urine protein level of more than 0.150 grams/24 hours was considered abnormal. Urine protein was correlated with various clinical and laboratory parameters. Thirty-one males and 36 females were evaluated. The mean age of the cohort was 23.8 (± 7.2) years. Twenty-seven patients (40.3%) had proteinuria of more than 0.150 grams/24 hours. The study group had a mean hemoglobin level of 8.5 (± 2.8) g/dL and mean fetal hemoglobin (HbF) level of 14.4% (± 7.3%). Majority of the patients (61) had hemoglobin SS genotype and six patients had S-ß⁰ thalassemia. None of the parameters evaluated correlated with proteinuria although there was a borderline association with older age and higher systolic blood pressure (P = 0.073 and 0.061 respectively). Hydroxyurea use for more than a year was not beneficial. In conclusion, our study suggests that proteinuria in adult Saudi patients is not associated with any clear identifiable risk factors.

  17. Overactive bladder in adults with sickle cell disease.

    Science.gov (United States)

    Anele, Uzoma A; Morrison, Belinda F; Reid, Marvin E; Madden, Wendy; Foster, Shara; Burnett, Arthur L

    2016-06-01

    To characterize the prevalence and impact of nocturnal enuresis and overactive bladder (OAB) symptomatology in the adult sickle-cell disease (SCD) population. We performed a single-center, cross-sectional study of adult SCD patients from October 2012 to February 2014, using the validated Pfizer OAB short form questionnaire and brief voiding history surveys. Patient responses and scores were compared to that of controls having normal or sickle cell trait hemoglobin genotypes. A group of 239 SCD patients (116 males, 123 females) were compared with 104 normal and 57 sickle cell trait patients. Seven of 239 (2.9%) SCD patients compared to none of the 161 patients without SCD (P = 0.04) reported current nocturnal enuresis. The median age of nocturnal enuresis cessation was higher in SCD patients (12.0, IQR 9.0-15.0 years) compared to that of both normal (7.5, IQR 6.0-9.8 years) and sickle cell trait (7.5, IQR 6.0-8.8 years) groups (P sickle cell trait had scores indicating OAB symptomatology (P symptom severity and lower health-related quality of life (HRQL) scores compared to the normal and sickle cell trait groups (P symptoms in the adult SCD population. An OAB phenotype may be an under-recognized complication of SCD irrespective of age. Neurourol. Urodynam. 35:642-646, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  18. Detection of parvovirus B19 IgM in patients with sickle cell disease in Lagos, Nigeria

    Directory of Open Access Journals (Sweden)

    Christianah Idowu Ayolabi

    2017-07-01

    Full Text Available Objective: To determine anti-B19V IgM seroprevalence among sickle cell disease (SCD patients and patients with other blood genotypes. Methods: In this study, a commercially available ELISA kit (Parvovirus B19 RIDASCREEN Biopharma, Germany was used to analyze 93 serum samples, comprising 68 SCD patients and 25 control samples from individuals with other blood genotypes aged between 1 and 35 years. Results: Anti-B19V IgM was detected in 10 (~15% samples of the SCD patients, in which amongst the SC, 1 (25% positive was recorded, CC had 2 (~67% positive cases and SS had 7 (~11% positives. Among the study control group, a 16% seropositivity was observed, in which among those with genotype AA, 1 (20% was positive, for those with AS, 1 (~7% positive was recorded, for AC, 3 (50% were positive. The age range of 11–20 years showed a positivity of 3 (~4%, those of 21–30 years showed 12 (~24% positivity and both 1–10 years and > 30 years had no positive case recorded. Conclusions: This study showed that B19V is a significant blood borne pathogen in our environment and concerted effort is needed to advance strategies to curb this infection and diminish the common severe complications usually associated with this virus infection among SCD patients.

  19. Alloimmunization in Patients with Sickle Cell Disease in French Guiana

    Directory of Open Access Journals (Sweden)

    Narcisse Elenga

    2015-01-01

    Full Text Available This study in French Guiana assessed the frequency of alloimmunization to red cell antigens in sickle cell disease patients over 1995–2011 and identified the most common antibodies. A retrospective analysis of the transfusion history and medical records of 302 patients showed that 29/178 transfused patients had developed alloantibodies (16%. The most frequent alloantibodies were anti-LE1, anti-MNS1, anti-LE2, and anti-FY1 and were developed after transfusion of standard red cell units. The frequency of the clinically significant antibodies in this population of SCD patients was 11% (19/178. The antibodies found on those patients who had delayed hemolytic transfusion reaction were anti-K1, anti-FY1, and anti-MNS3. The strategies used to decrease alloimmunization in French Guiana are discussed.

  20. Proteinuria in adult Saudi patients with sickle cell disease is not associated with identifiable risk factors

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    Aleem Aamer

    2010-01-01

    Full Text Available Renal involvement in patients with sickle cell disease (SCD is associated with signi-ficant morbidity and mortality. Proteinuria is common in patients with SCD and is a risk factor for future development of renal failure. We sought to identify risk factors, if any, associated with pro-teinuria in adult Saudi patients with SCD. We studied 67 patients with SCD followed-up at the King Khalid University Hospital, Riyadh, Saudi Arabia. All patients underwent 24-hour urine collection to measure creatinine clearance and to quantify proteinuria. In addition, blood was examined for evaluation of hematological and biochemical parameters. Clinical information was gathered from review of the patients′ charts. A urine protein level of more than 0.150 grams/24 hours was consi-dered abnormal. Urine protein was correlated with various clinical and laboratory parameters. Thirty-one males and 36 females were evaluated. The mean age of the cohort was 23.8 (± 7.2 years. Twenty-seven patients (40.3% had proteinuria of more than 0.150 grams/24 hours. The study group had a mean hemoglobin level of 8.5 (± 2.8 g/dL and mean fetal hemoglobin (HbF level of 14.4% (± 7.3%. Majority of the patients (61 had hemoglobin SS genotype and six patients had S-β0 thala-ssemia. None of the parameters evaluated correlated with proteinuria although there was a border-line association with older age and higher systolic blood pressure (P = 0.073 and 0.061 respec-tively. Hydroxyurea use for more than a year was not beneficial. In conclusion, our study suggests that proteinuria in adult Saudi patients is not associated with any clear identifiable risk factors.

  1. Microparticles as biomarkers of osteonecrosis of the hip in sickle cell disease

    NARCIS (Netherlands)

    Marsh, Anne; Schiffelers, Raymond; Kuypers, Frans; Larkin, Sandra; Gildengorin, Ginny; van Solinge, Wouter; Hoppe, Carolyn

    Osteonecrosis of the femoral head (ONFH) is a common complication of sickle cell disease (SCD). To examine the association between microparticles and ONFH in SCD, we compared plasma microparticle levels in 20 patients with and without ONFH. Microparticles were quantified using nanoparticle tracking

  2. INCREASED VASOOCCLUSIVE CRISIS IN “O” BLOOD GROUP SICKLE CELL DISEASE PATIENTS: ASSOCIATION WITH UNDERLYING THROMBOSPONDIN LEVELS.

    Directory of Open Access Journals (Sweden)

    M. Al Huneini

    2017-04-01

    Full Text Available Abstract: Objectives: To explore the incidence of vaso-occlusive crisis (VOC in Blood Group “O” sickle cell disease (SCD patients, and correlate it with the blood group and thrombospondin (TSP levels. Methods: In 89 consecutive SCD patients, blood samples were obtained for vWF antigen, collagen binding activity, blood group typing, C-reactive protein, variant hemoglobin analysis (HPLC, Serum TSP 1 and TSP 2 levels, complete blood counts, liver function tests, LDH and renal function tests during VOC episodes and in steady state conditions. Results: In the steady state SCD patients (n=72, “O” blood group patients (n=37 showed significantly higher median serum TSP 1 and TSP 2 levels than the non “O” blood group patients [n=35] [p <0.05, Mann-Whitney test], with an inverse relation between VWF:Ag, Factor VIII:C and TSP levels. Furthermore, the serum TSP 1 and TSP 2 levels were significantly higher in patients presenting with acute VOC [n=17], and in those with repeated VOC’s (group 1, n=16 especially amongst those patients with blood group “O” [p, <0.05, Mann-Whitney test]. Conclusions: The study shows that there was an inverse relation between TSP and vWF levels, in blood group “O” SCD patients with an upregulation of the TSP levels. Expectedly, during active VOC crisis, the TSP 1 and TSP 2 levels were significantly elevated.    Key Words: VOC; SCD; TSP; vWD; Blood groups

  3. Phenotypic differences of CD4(+) T cells in response to red blood cell immunization in transfused sickle cell disease patients.

    Science.gov (United States)

    Vingert, Benoît; Tamagne, Marie; Habibi, Anoosha; Pakdaman, Sadaf; Ripa, Julie; Elayeb, Rahma; Galacteros, Frédéric; Bierling, Philippe; Ansart-Pirenne, Hélène; Bartolucci, Pablo; Noizat-Pirenne, France

    2015-06-01

    Alloimmunization against red blood cells (RBCs) is the main immunological risk associated with transfusion in patients with sickle cell disease (SCD). However, about 50-70% of SCD patients never get immunized despite frequent transfusion. In murine models, CD4(+) T cells play a key role in RBC alloimmunization. We therefore explored and compared the CD4(+) T-cell phenotypes and functions between a group of SCD patients (n = 11) who never became immunized despite a high transfusion regimen and a group of SCD patients (n = 10) who had become immunized (at least against Kidd antigen b) after a low transfusion regimen. We studied markers of CD4(+) T-cell function, including TLR, that directly control lymphocyte function, and their spontaneous cytokine production. We also tested responders for the cytokine profile in response to Kidd antigen b peptides. Low TLR2/TLR3 expression and, unexpectedly, strong expression of CD40 on CD4(+) T cells were associated with the nonresponder status, whereas spontaneous expression of IL-10 by CD4(+) T cells and weak Tbet expression were associated with the responder status. A Th17 profile was predominant in responders when stimulated by Jb(k) . These findings implicate CD4(+) T cells in alloimmunization in humans and suggest that they may be exploited to differentiate responders from nonresponders. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  4. Detection of cerebrovascular disease in patients with sickle cell disease using transcranial Doppler sonography: correlation with MRI, MRA and conventional angiography

    International Nuclear Information System (INIS)

    Verlhac, S.; Bernaudin, F.; Tortrat, D.; Brugieres, P.; Mage, K.; Gaston, A.; Reinert, P.

    1995-01-01

    A prospective study of 58 patients with sickle cell disease (SCD) by transcranial Doppler sonography (TCD) included both MRI and MRA in patients over 7 years of age and those with abnormal TCD. Arteriography was performed in cases where a stenosis was suspected on TCD. Middle cerebral artery (MCA) and basilar artery (BA) velocities were significantly higher in the sickle cell hemoglobin SS group than in the hemoglobin SC group. Patients with a MCA mean velocity of over 1.90 m/s had stenoses found by arteriography. Patients with unilaterally undetectable MCA flow had experienced a stroke and MCA thrombosis was confirmed at MRA and arteriography. We concluded that TCD is valuable in detecting arterial stenosis in SCD and will lead to consideration of these patients for intensive therapy, such as bone marrow transplantation (BMT) or transfusion regimes. (orig.)

  5. Plasma sCD14 as a biomarker to predict pulmonary exacerbations in cystic fibrosis.

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    Bradley S Quon

    Full Text Available BACKGROUND: One in four cystic fibrosis (CF patients diagnosed with a pulmonary exacerbation will not recover their baseline lung function despite standard treatment. This highlights the importance of preventing such events. Clinical decision-making can be improved through a simple blood test that predicts individuals at elevated short-term risk of an exacerbation. METHODS: We obtained plasma samples from 30 stable CF patients from the St. Paul's Hospital Adult CF Clinic (Vancouver, Canada. For 15 patients, an additional plasma sample was obtained during an exacerbation. Soluble CD14 (sCD14 and C-reactive protein (CRP were quantified using ELISA kits. Myeloperoxidase (MPO, interleukin(IL-6, IL-1β, monocyte chemoattractant protein-1 (MCP-1, vascular endothelial growth factor (VEGF, and granulocyte colony-stimulating factor (G-CSF were quantified using Luminex™ immunoassays. Stable state biomarker levels were examined in their ability to predict individuals that would experience a pulmonary exacerbation requiring intravenous (IV antibiotics within 4 months. Paired stable and exacerbation plasma biomarker levels were also compared. RESULTS: sCD14 levels were significantly higher in patients that experienced a pulmonary exacerbation requiring IV antibiotics within 4 months (p = 0.001. sCD14 cut-off value of 1450 ng/mL was associated with an area under the curve of 0.91 (95% CI 0.83-0.99 for predicting an exacerbation within 4 months of a stable visit, with a sensitivity of 100% and specificity of 82%. Plasma sCD14 levels were significantly higher during exacerbations than during periods of clinical stability (p = 0.03. CONCLUSIONS: Plasma sCD14 is a promising biomarker for identifying CF patients who will exacerbate within 4 months of a stable visit but requires further study in larger, independent cohorts.

  6. Acute care of pediatric patients with sickle cell disease: a simulation performance assessment.

    Science.gov (United States)

    Burns, Tracy L; DeBaun, Michael R; Boulet, John R; Murray, Gayle M; Murray, David J; Fehr, James J

    2013-09-01

    Sickle cell disease (SCD) is a rare disorder with cardinal features including hospitalization for vaso-occlusive pain episodes, acute pulmonary injury, and increased infection rates. For physician-trainees, learning optimal SCD management is challenging because of limited exposure to life threatening complications requiring timely interventions. To create, demonstrate reliability, and validate simulation-based, acute care SCD scenarios for physician-trainees, seven scenarios were derived from SCD patient cases. For each scenario, participants had 5 minutes to complete diagnostic and treatment interventions. Participants were divided into two groups based on clinical experience: interns or residents/fellows. Two raters scored performances using diagnostic and therapeutic checklists--indicating whether specific actions were performed and a global, 1 (poor) to 9 (excellent), rating. Scenario scores were calculated by averaging rater scores on each metric. Reliability was defined through uniformity in rater scoring and consistency of participant performance over scenarios. Validity was demonstrated by the performance gradient where the more experienced trainees outperform those early in training. Twenty-eight pediatric residents and hematology fellows took part in the study. Reliability for assessment scores overall was moderate. Performance on all but one scenario was moderately predictive of overall performance. Senior resident/fellows performed significantly better than interns. Positive associations existed between overall performance scores (P training (P < 0.01). Mannequin-based simulation is a novel method for teaching pediatric residents SCD-specific acute care skills. The assessment provided reliable and valid measures of trainees' performance. Further studies are needed to determine simulation's utility in education and evaluation. Copyright © 2013 Wiley Periodicals, Inc.

  7. Significance of serum-soluble CD95 (Fas/APO-1) on prognosis in renal cell cancer patients

    OpenAIRE

    Kimura, M; Tomita, Y; Imai, T; Saito, T; Katagiri, A; Tanikawa, T; Takeda, M; Takahashi, K

    1999-01-01

    Serum-soluble CD95 (sCD95) levels for 72 renal cell cancer patients were significantly higher than those of 17 healthy donors. Twenty-one of 72 patients had elevated (defined as more than mean of healthy donors + 2 s.d.) sCD95. The disease-specific survival rate was significantly lower in the elevated sCD95 group. Serum sCD95 level was shown to be an independent prognostic factor by univariate and multivariate analysis, indicating a possible significant role in determining treatment strategie...

  8. Spleen histology in children with sickle cell disease and hereditary spherocytosis: hints on the disease pathophysiology.

    Science.gov (United States)

    Pizzi, Marco; Fuligni, Fabio; Santoro, Luisa; Sabattini, Elena; Ichino, Martina; De Vito, Rita; Zucchetta, Pietro; Colombatti, Raffaella; Sainati, Laura; Gamba, Piergiorgio; Alaggio, Rita

    2017-02-01

    Hereditary spherocytosis (HS) and sickle cell disease (SCD) are associated with splenomegaly and spleen dysfunction in pediatric patients. Scant data exist on possible correlations between spleen morphology and function in HS and SCD. This study aimed to assess the histologic and morphometric features of HS and SCD spleens, to get possible correlations with disease pathophysiology. In a large series of spleens from SCD, HS, and control patients, the following parameters were considered: (i) macroscopic features, (ii) lymphoid follicle (LF) density, (iii) presence of perifollicular marginal zones, (iv) presence of Gamna-Gandy bodies, (v) density of CD8-positive sinusoids, (vi) density of CD34-positive microvessels, (vii) presence/distribution of fibrosis and smooth muscle actin (SMA)-positive myoid cells, and (viii) density of CD68-positive macrophages. SCD and HS spleens had similar macroscopic features. SCD spleens had lower LF density and fewer marginal zones than did HS spleens and controls. SCD also showed lower CD8-positive sinusoid density, increased CD34-positive microvessel density and SMA-positive myoid cells, and higher prevalence of fibrosis and Gamna-Gandy bodies. HS had lower LF and CD8-positive sinusoid density than did controls. No significant differences were noted in red pulp macrophages. By multivariate analysis, most HS spleens clustered with controls, whereas SCD grouped separately. A multiparametric score could predict the degree of spleen changes irrespective of the underlying disease. In conclusion, SCD spleens display greater histologic effacement than HS, and SCD-related changes suggest impaired function due to vascular damage. These observations may contribute to guide the clinical management of patients. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Clinical significance of soluble hemoglobin scavenger receptor CD163 (sCD163 in sepsis, a prospective study.

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    Lin Feng

    Full Text Available We investigated serum soluble CD163 (sCD163 levels for use in the diagnosis, severity assessment, and prognosis of sepsis in the critical ill patients and compared sCD163 with other infection-related variables.During july 2010 and April 2011, serum was obtained from 102 sepsis patients (days 1, 3, 5, 7, and 10 after admission to an ICU and 30 systemic inflammatory response syndrome (SIRS patients with no sepsis diagnosed. Serum levels of sCD163, procalcitonon (PCT, and C reactive protein (CRP were determined respectively. Sequential organ failure assessment (SOFA scores for sepsis patients were also recorded. Then evaluated their roles in sepsis.The sCD163 levels were 0.88(0.78-1.00 ug/mL for SIRS patients, 1.50(0.92-2.00 ug/mL for moderate sepsis patients, and 2.95(2.18-5.57 ug/mL for severe sepsis patients on day 1. The areas under the ROC curves for sCD163, CRP, and PCT for the diagnosis of sepsis were, respectively, 0.856(95%CI: 0.791-0.921, 0.696(95%CI: 0.595-0.797, and 0.629(95%CI: 0.495-0.763, At the recommended cut-off 1.49 ug/mL for sCD163, the sensitivity is 74.0% with 93.3% specificity. Based on 28-day survivals, sCD163 levels in the surviving group stay constant, while they tended to gradually increase in the non-surviving group.The area under the ROC curve for sCD163 for sepsis prognosis was 0.706(95%CI 0.558-0.804. Levels of sCD163 with cut-off point >2.84 ug/mL have sensitivity of 55.8.0%, specificity 80.4%. Common risk factors for death and sCD163 were included in multivariate logistic regression analysis; the odds ratios (OR for sCD163 and SOFA scores for sepsis prognosis were 1.173 and 1.396, respectively (P<0.05. Spearman rank correlation analysis showed that sCD163 was weakly, but positively correlated with CRP, PCT, and SOFA scores (0.2< r <0.4, P<0.0001, but not with leukocyte counts (r <0.2, P = 0.450.Serum sCD163 is superior to PCT and CRP for the diagnosis of sepsis and differentiate the severity of sepsis. sCD163

  10. High soluble CD30, CD25 and IL-6 may identify patients with worse survival in CD30+ cutaneous lymphomas and early mycosis fungoides

    Science.gov (United States)

    Kadin, Marshall E.; Pavlov, Igor; Delgado, Julio C.; Vonderheid, Eric C.

    2011-01-01

    Histopathology alone cannot predict outcome of patients with CD30+ primary cutaneous lymphoproliferative disorders (CD30CLPD) and early mycosis fungoides (MF). To test the hypothesis that serum cytokines/cytokine receptors provide prognostic information in these disorders, we measured soluble CD30 (sCD30), sCD25, and selected cytokines in cell cultures and sera of 116 patients with CD30CLPD and 96 patients with early MF followed up to 20 years. Significant positive correlation was found between sCD30 levels and sCD25, CD40L, IL-6, and IL-8, suggesting CD30+ neoplastic cells secrete these cytokines, but not Th2 cytokines. In vitro studies confirmed sCD30, sCD25, IL-6 and IL-8 are secreted by CD30CLPD-derived cell lines. CD30CLPD patients with above normal sCD30 and sCD25 had worse overall and disease-related survivals, but only sCD30 retained significance in Cox models that included advanced age. High sCD30 also identified patients with worse survival in early MF. Increased IL-6 and IL-8 correlated with poor disease-related survival in CD30CLPD patients, We conclude that: (1) neoplastic cells of some CD30CLPD patients do not resemble Th2 cells, (2) high serum sCD30, sCD25, IL-6, and perhaps IL-8 levels may provide prognostic information useful for patient management. PMID:22071475

  11. Changing practice: red blood cell typing by molecular methods for patients with sickle cell disease.

    Science.gov (United States)

    Casas, Jessica; Friedman, David F; Jackson, Tannoa; Vege, Sunitha; Westhoff, Connie M; Chou, Stella T

    2015-06-01

    Extended red blood cell (RBC) antigen matching is recommended to limit alloimmunization in patients with sickle cell disease (SCD). DNA-based testing to predict blood group phenotypes has enhanced availability of antigen-negative donor units and improved typing of transfused patients, but replacement of routine serologic typing for non-ABO antigens with molecular typing for patients has not been reported. This study compared the historical RBC antigen phenotypes obtained by hemagglutination methods with genotype predictions in 494 patients with SCD. For discrepant results, repeat serologic testing was performed and/or investigated by gene sequencing for silent or variant alleles. Seventy-one typing discrepancies were identified among 6360 antigen comparisons (1.1%). New specimens for repeat serologic testing were obtained for 66 discrepancies and retyping agreed with the genotype in 64 cases. One repeat Jk(b-) serologic phenotype, predicted Jk(b+) by genotype, was found by direct sequencing of JK to be a silenced allele, and one N typing discrepancy remains under investigation. Fifteen false-negative serologic results were associated with alleles encoding weak antigens or single-dose Fy(b) expression. DNA-based RBC typing provided improved accuracy and expanded information on RBC antigens compared to hemagglutination methods, leading to its implementation as the primary method for extended RBC typing for patients with SCD at our institution. © 2015 AABB.

  12. Serum levels of soluble CD30 in adult patients affected by atopic dermatitis and its relation to age, duration of disease and Scoring Atopic Dermatitis index

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    Gabriele Di Lorenzo

    2003-01-01

    Full Text Available The value of CD30 and the soluble circulating fragment of CD30 (sCD30 for atopic dermatitis (AD remains unclear. In particular, little is known about the effects of age, duration of disease and Scoring Atopic Dermatitis index (SCORAD on the levels of serum sCD30 in patients affected by AD. In the present study, we have analysed serum sCD30 levels of adult patients affected by AD. The study's population includes 18 non-smoking outpatients, with a diagnosis of AD. As a control group we studied 18 non-atopic subjects from laboratory staff, matched for sex and age. These subjects had no history of AD, urticaria or seasonal or perennial rhinitis or asthma, and had negative skin prick test to a panel of allergens.

  13. Sepsis Markers Soluble IL-2 Receptor and Soluble CD14 Subtype as Potential Biomarkers for Complete Mucosal Healing in Patients With Inflammatory Bowel Disease.

    Science.gov (United States)

    Hosomi, Shuhei; Yamagami, Hirokazu; Itani, Shigehiro; Yukawa, Tomomi; Otani, Koji; Nagami, Yasuaki; Tanaka, Fumio; Taira, Koichi; Kamata, Noriko; Tanigawa, Tetsuya; Shiba, Masatsugu; Watanabe, Toshio; Fujiwara, Yasuhiro

    2018-01-05

    Novel noninvasive biomarkers with high diagnostic accuracy are required to assess mucosal healing, which is associated with sustained clinical remission, in inflammatory bowel disease. This study aimed to explore sepsis markers as potential biomarkers for mucosal healing. Patients with ulcerative colitis [UC] or Crohn's disease [CD], who underwent blood tests for C-reactive protein [CRP], serum procalcitonin [PCT], soluble interleukin-2 receptor [sIL-2R], and plasma soluble CD14 subtype [sCD14-ST] within 2 weeks of endoscopy, were retrospectively recruited; and we assessed the relationship between marker levels and clinical features. Complete mucosal healing [cMH] was defined as a Mayo endoscopic subscore [MES] of 0 for UC and a simple endoscopic score for Crohn's disease [SES-CD] of 0 for CD. In all, 68 UC patients and 33 CD patients were included in this study. In patients with UC, the sIL-2R level was significantly higher in patients without cMH than in those with cMH. The sIL-2R level had the highest diagnostic value for identifying cMH in UC. In patients with CD, CRP and sCD14-ST levels were significantly higher in patients without cMH than in those with cMH, and both CRP and sCD14-ST had good diagnostic values for identifying cMH. The sCD14-ST level had a high diagnostic value for identifying cMH even among CD patients with complete clinical remission, defined as a Harvey-Bradshaw index of 0. The sIL-2R and sCD14-ST levels in patients with UC and CD, respectively, can be useful surrogate markers for identifying mucosal healing in inflammatory bowel disease. Copyright © 2017 European Crohn’s and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com

  14. Preventing Infections in Sickle Cell Disease: The Unfinished Business.

    Science.gov (United States)

    Obaro, Stephen K; Iroh Tam, P Y

    2016-05-01

    While encapsulated bacterial agents, particularly Streptococcus pneumoniae, are recognized as important microbes that are associated with serious illness in hosts with sickle cell disease (SCD), multiple pathogens are implicated in infectious manifestations of SCD. Variations in clinical practice have been an obstacle to the universal implementation of infection preventive management through active, targeted vaccination of these individuals and routine usage of antibiotic prophylaxis. Paradoxically, in low-income settings, there is evidence that SCD also increases the risk for several other infections that warrant additional infection preventive measures. The infection preventive care among patients with SCD in developed countries does not easily translate to the adoption of these recommendations globally, which must take into account the local epidemiology of infections, available vaccines and population-specific vaccine efficacy, environment, health care behaviors, and cultural beliefs, as these are all factors that play a complex role in the manifestation of SCD and the prevention of infectious disease morbidity. © 2016 Wiley Periodicals, Inc.

  15. MRA of the intracranial circulation in asymptomatic patients with sickle cell disease

    International Nuclear Information System (INIS)

    Gillams, A.R.; McMahon, L.; Weinberg, G.; Carter, A.P.

    1998-01-01

    Background. MR angiography (MRA) provides a mechanism for non-invasively studying blood flow, thus providing a new opportunity to study the intracranial circulation in asymptomatic sickle cell disease (SCD) patients. Although conventional angiography is the gold standard for the depiction of vascular anatomy, this is too invasive for an asymptomatic population. Objective. To establish the range of appearances in asymptomatic SCD patients and to correlate brain MRI results (either sub-clinical abnormalities or normal brain parenchyma) with the MRA findings. Materials and methods. Brain MRI and MRA of the intracranial circulation was performed on 22 patients (13 male and 9 female, median age 7.5 years, range 1.3-20 years). Fourteen were homozygous SS and eight were SC. The median haematocrit at the time of MRI was 25.9 (range 13.8-33.3). Results. On MR imaging, four patients had infarcts in eight vascular territories (six anterior and two posterior). In 3/4 of anterior vascular territories with infarction, long (≥ 6 mm) segments of abnormal signal were seen at the internal carotid artery bifurcation with associated reduced distal flow. Short focal areas of abnormal signal were commonly seen where vessels branched, bifurcated or curved and were not associated with infarcts. These areas probably represent turbulence-related dephasing secondary to high velocity flow found in SCD. Conclusion. Long segments (≥ 6 mm) of abnormal signal with reduced distal flow correlated with sub-clinical infarction. (orig.)

  16. A novel approach to predict sudden cardiac death (SCD using nonlinear and time-frequency analyses from HRV signals.

    Directory of Open Access Journals (Sweden)

    Elias Ebrahimzadeh

    Full Text Available Investigations show that millions of people all around the world die as the result of sudden cardiac death (SCD. These deaths can be reduced by using medical equipment, such as defibrillators, after detection. We need to propose suitable ways to assist doctors to predict sudden cardiac death with a high level of accuracy. To do this, Linear, Time-Frequency (TF and Nonlinear features have been extracted from HRV of ECG signal. Finally, healthy people and people at risk of SCD are classified by k-Nearest Neighbor (k-NN and Multilayer Perceptron Neural Network (MLP. To evaluate, we have compared the classification rates for both separate and combined Nonlinear and TF features. The results show that HRV signals have special features in the vicinity of the occurrence of SCD that have the ability to distinguish between patients prone to SCD and normal people. We found that the combination of Time-Frequency and Nonlinear features have a better ability to achieve higher accuracy. The experimental results show that the combination of features can predict SCD by the accuracy of 99.73%, 96.52%, 90.37% and 83.96% for the first, second, third and forth one-minute intervals, respectively, before SCD occurrence.

  17. Expression of Regulatory Platelet MicroRNAs in Patients with Sickle Cell Disease

    Science.gov (United States)

    Jain, Shilpa; Kapetanaki, Maria G.; Raghavachari, Nalini; Woodhouse, Kimberly; Yu, Guoying; Barge, Suchitra; Coronnello, Claudia; Benos, Panayiotis V.; Kato, Gregory J.; Kaminski, Naftali; Gladwin, Mark T.

    2013-01-01

    Background Increased platelet activation in sickle cell disease (SCD) contributes to a state of hypercoagulability and confers a risk of thromboembolic complications. The role for post-transcriptional regulation of the platelet transcriptome by microRNAs (miRNAs) in SCD has not been previously explored. This is the first study to determine whether platelets from SCD exhibit an altered miRNA expression profile. Methods and Findings We analyzed the expression of miRNAs isolated from platelets from a primary cohort (SCD = 19, controls = 10) and a validation cohort (SCD = 7, controls = 7) by hybridizing to the Agilent miRNA microarrays. A dramatic difference in miRNA expression profiles between patients and controls was noted in both cohorts separately. A total of 40 differentially expressed platelet miRNAs were identified as common in both cohorts (p-value 0.05, fold change>2) with 24 miRNAs downregulated. Interestingly, 14 of the 24 downregulated miRNAs were members of three families - miR-329, miR-376 and miR-154 - which localized to the epigenetically regulated, maternally imprinted chromosome 14q32 region. We validated the downregulated miRNAs, miR-376a and miR-409-3p, and an upregulated miR-1225-3p using qRT-PCR. Over-expression of the miR-1225-3p in the Meg01 cells was followed by mRNA expression profiling to identify mRNA targets. This resulted in significant transcriptional repression of 1605 transcripts. A combinatorial approach using Meg01 mRNA expression profiles following miR-1225-3p overexpression, a computational prediction analysis of miRNA target sequences and a previously published set of differentially expressed platelet transcripts from SCD patients, identified three novel platelet mRNA targets: PBXIP1, PLAGL2 and PHF20L1. Conclusions We have identified significant differences in functionally active platelet miRNAs in patients with SCD as compared to controls. These data provide an important inventory of differentially expressed mi

  18. Relevance of blood groups in transfusion of sickle cell disease patients.

    Science.gov (United States)

    Noizat-Pirenne, France

    2013-03-01

    Blood groups are clinically significant in sickle cell disease (SCD) as transfusion remains a key treatment in this pathology. The occurrence of a delayed haemolytic transfusion reaction (DHTR) is not rare and is a life-threatening event. The main cause of DHTR is the production of alloantibodies against red blood cell antigens. The high rate of alloimmunization in SCD patients is mainly due to the differences of red blood groups between patients of African descent, and the frequently Caucasian donors. From an immuno-haematological point of view, DHTR in SCD patients has specific features: classical antibodies known to be haemolytic can be encountered, but otherwise non significant antibodies, autoantibodies and antibodies related to partial and rare blood groups are also frequently found in individuals of African descent. In some cases, there are no detectable antibodies. As alloimmunization remains the main cause of DHTR, it is extremely important to promote blood donation by individuals of African ancestry to make appropriate blood available. Copyright © 2012 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  19. An Evaluation of Central Sensitization in Patients With Sickle Cell Disease.

    Science.gov (United States)

    Campbell, Claudia M; Moscou-Jackson, Gyasi; Carroll, C Patrick; Kiley, Kasey; Haywood, Carlton; Lanzkron, Sophie; Hand, Matthew; Edwards, Robert R; Haythornthwaite, Jennifer A

    2016-05-01

    Central sensitization (CS), nociceptive hyperexcitability known to amplify and maintain clinical pain, has been identified as a leading culprit responsible for maintaining pain in several chronic pain conditions. Recent evidence suggests that it may explain differences in the symptom experience of individuals with sickle cell disease (SCD). Quantitative sensory testing (QST) can be used to examine CS and identify individuals who may have a heightened CS profile. The present study categorized patients with SCD on the basis of QST responses into a high or low CS phenotype and compared these groups according to measures of clinical pain, vaso-occlusive crises, psychosocial factors, and sleep continuity. Eighty-three adult patients with SCD completed QST, questionnaires, and daily sleep and pain diaries over a 3-month period, weekly phone calls for 3 months, and monthly phone calls for 12 months. Patients were divided into CS groups (ie, no/low CS [n = 17] vs high CS [n = 21]), on the basis of thermal and mechanical temporal summation and aftersensations, which were norm-referenced to 47 healthy control subjects. High CS subjects reported more clinical pain, vaso-occlusive crises, catastrophizing, and negative mood, and poorer sleep continuity (Ps < .05) over the 18-month follow-up period. Future analyses should investigate whether psychosocial disturbances and sleep mediate the relationship between CS and pain outcomes. In general, SCD patients with greater CS had more clinical pain, more crises, worse sleep, and more psychosocial disturbances compared with the low CS group. Copyright © 2016 American Pain Society. Published by Elsevier Inc. All rights reserved.

  20. Large and medium-sized pulmonary artery obstruction does not play a role of primary importance in the etiology of sickle-cell disease-associated pulmonary hypertension

    NARCIS (Netherlands)

    van Beers, Eduard J.; van Eck-Smit, Berthe L. F.; Mac Gillavry, Melvin R.; van Tuijn, Charlotte F. J.; van Esser, Joost W. J.; Brandjes, Dees P. M.; Kappers-Klunne, Mies C.; Duits, Ashley J.; Biemond, Bart J.; Schnog, John-John B.

    2008-01-01

    Background: Pulmonary hypertension (PHT) occurs in approximately 30% of adult patients with sickle-cell disease (SCD) and is a risk factor for early death. The potential role of pulmonary artery obstruction, whether due to emboli or in situ thrombosis, in the etiology of SCD-related PHT is unknown.

  1. Cerebrovascular reserve capacity is impaired in patients with sickle cell disease

    NARCIS (Netherlands)

    Nur, Erfan; Kim, Yu-Sok; Truijen, Jasper; van Beers, Eduard J.; Davis, Shyrin C. A. T.; Brandjes, Dees P.; Biemond, Bart J.; van Lieshout, Johannes J.

    2009-01-01

    Sickle cell disease (SCD) is associated with a high incidence of ischemic stroke. SCD is characterized by hemolytic anemia, resulting in reduced nitric oxide-bioavailability, and by impaired cerebrovascular hemodynamics. Cerebrovascular CO2 responsiveness is nitric oxide dependent and has been

  2. Detection of acute osteomyelitis with indium-111 labeled white blood cells in a patient with sickle cell disease

    International Nuclear Information System (INIS)

    Fernandez-Ulloa, M.; Vasavada, P.J.; Black, R.R.

    1989-01-01

    A young patient with sickle cell disease (SCD) and multiple hospitalizations for crisis was admitted because of suspected osteomyelitis. Initial laboratory work, radiographs, and bone images were not contributory. An In-111 white blood cell (WBC) study demonstrated two areas of increased radionuclide uptake consistent with osteomyelitis. One of these had associated soft tissue infection. No other areas of active osteomyelitis were visualized, in spite of the presence of several additional infection sites. Imaging with In-111 WBC is probably not justified for routine diagnosis of acute osteomyelitis in areas free of previous disease, where conventional bone images are highly efficient. In-111 WBC imaging, however, may be helpful in detecting osteomyelitis in selected patients with SCD in whom Tc-99m bone images and radiographs are usually abnormal and difficult to interpret due to previous bone infarcts. Localization of the infection focus is very important in choosing the aspiration site for bacteriologic studies. A negative study, however, should be interpreted cautiously

  3. Detection of acute osteomyelitis with indium-111 labeled white blood cells in a patient with sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez-Ulloa, M.; Vasavada, P.J.; Black, R.R.

    1989-02-01

    A young patient with sickle cell disease (SCD) and multiple hospitalizations for crisis was admitted because of suspected osteomyelitis. Initial laboratory work, radiographs, and bone images were not contributory. An In-111 white blood cell (WBC) study demonstrated two areas of increased radionuclide uptake consistent with osteomyelitis. One of these had associated soft tissue infection. No other areas of active osteomyelitis were visualized, in spite of the presence of several additional infection sites. Imaging with In-111 WBC is probably not justified for routine diagnosis of acute osteomyelitis in areas free of previous disease, where conventional bone images are highly efficient. In-111 WBC imaging, however, may be helpful in detecting osteomyelitis in selected patients with SCD in whom Tc-99m bone images and radiographs are usually abnormal and difficult to interpret due to previous bone infarcts. Localization of the infection focus is very important in choosing the aspiration site for bacteriologic studies. A negative study, however, should be interpreted cautiously.

  4. Macrophage activation marker sCD163 correlates with accelerated lipolysis following LPS exposure: a human-randomised clinical trial

    DEFF Research Database (Denmark)

    Rittig, Nikolaj; Svart, Mads; Jessen, Niels

    2018-01-01

    BACKGROUND: Macrophage activation determined by levels of soluble sCD163 is associated with obesity, insulin resistance, diabetes mellitus type 2 (DM2) and non-alcoholic fatty liver disease (NAFLD). This suggests that macrophage activation is involved in the pathogenesis of conditions is characte......BACKGROUND: Macrophage activation determined by levels of soluble sCD163 is associated with obesity, insulin resistance, diabetes mellitus type 2 (DM2) and non-alcoholic fatty liver disease (NAFLD). This suggests that macrophage activation is involved in the pathogenesis of conditions...... in lipid metabolic adaptions under conditions such as obesity, DM2 and NAFLD....

  5. Attention Deficit Hyperactivity Disorder in Children With Sickle Cell Disease Referred for an Evaluation.

    Science.gov (United States)

    Acquazzino, Melissa A; Miller, Meghan; Myrvik, Matthew; Newby, Robert; Scott, John Paul

    2017-07-01

    Neuropsychological deficits, including difficulties with attention, are well described in children with sickle cell disease (SCD). Very little is known about attention deficit hyperactivity disorder (ADHD) in children with SCD. The objective of this study was to determine the proportion of ADHD in children with SCD referred for neuropsychological evaluation. This prospective, cross-sectional study included patients (age, 4 to 18 y) with SCD and completion of a neuropsychological evaluation between December 2013 and March 2016. Patients were referred for neuropsychological evaluation because of concern regarding school performance, development, and/or behavior. The diagnosis of ADHD was made by a neuropsychologist on the basis of the diagnostic criteria in the Diagnostic Statistical Manual-Fourth or Fifth Editions. ADHD medication usage rate was obtained by medical record review. Of the 89 patients with SCD referred for neuropsychological evaluation, 25% (95% confidence interval, 16%-35%) met diagnostic criteria for ADHD. Only 21% of the patients with SCD and ADHD were prescribed an ADHD medication. Our study supports routine ADHD screening in children with SCD who have poor school performance or behavioral concerns. Despite the benefits of pharmacologic treatment, the majority of patients with SCD and ADHD did not receive a medication for management of their ADHD.

  6. [Blood transfusion assessment to 112 homozygous sickle-cell disease patients in university hospital of Brazzaville].

    Science.gov (United States)

    Dokekias, A Elira; Ossini, L Ngolet; Tsiba, F O Atipo; Malanda, F; Koko, I; De Montalembert, M

    2009-01-01

    Homozygous, sickle-cell disease (SCD) is responsible for acute complication, especially anaemic crisis and special situation such as acute chest syndrome, stroke and acute priapism. Pregnancy sickle-cell disease presents high risk for the mother and the fetus. In these indications, blood transfusion is the main therapy aiming to reduce anaemia in order to restore hemoglobin's rate or to increase normal Hb proportion. This study aims to assess the short-term efficiency of the red cell transfusion in SCD homozygous form. One hundred and twelve homozygous sickle-cell patients were enrolled in this prospective study: 59 females and 53 males, median age is 21,8 years (extremes: 2 and 45 years). These patients are mostly with very low income. Two groups of patients are included in this study. In the first group, patients present acute anemia crisis caused by infections disease (malaria, bacterial infections). In the second group (20 cases), SCD patients have particularly situations: pregnancy (10 cases); stroke (six cases); cardiac failure (two cases) and priapism (two cases). Transfusion treatment in first group is simple regimen. Transfusion of EC increased median Hb level at 2,9 g/dl (extremes: 1,1 and 4,7). In the second group of patients, 16 cases were transfused by manual partial exchange (1-3) and four patients received simple regimen of transfusion. Median Hb level was 3,1g/dl (extremes: 2,4-4,9 g/dl). HbS percentage reduction was after PTE between -30 and -66,8% (median: -52,6%). According to our diagnostic possibilities (blood serologic test), we have not found any contamination by HIV, HBV and HCV (virus).

  7. Genetics of Sickle Cell-Associated Cardiovascular Disease: An Expert Review with Lessons Learned in Africa.

    Science.gov (United States)

    Geard, Amy; Pule, Gift D; Chelo, David; Bitoungui, Valentina Josiane Ngo; Wonkam, Ambroise

    2016-10-01

    Sickle cell disease (SCD) vastly impacts the African continent and is associated with cardiovascular diseases. Stroke, kidney disease, and pulmonary hypertension are considered as proxies of severity in SCD with several genomic loci implicated in their heritability. The present expert review examined the current data on epidemiology and genetic risk factors of stroke, pulmonary hypertension, and kidney disease associated with SCD, as indexed in PubMed ® and Google Scholar ® . Studies collectively show that stroke and kidney disease each affect ∼10% of SCD patients, with pulmonary hypertension displaying a higher prevalence of 30% among adults with SCD. There is some evidence that these epidemiology figures may be an underestimate in SCD patients living in Africa. A modest number of publications have identified genetic factors involved in pathways regulating inflammation, coagulation, cell adhesion, heme degradation, α-globin and γ-globin production, and others, which contribute to the development risk of targeted cardiovascular phenotypes. However, in most cases, these studies have not been validated across populations. There is therefore an urgent need for large-scale genome-wide association, whole-exome and whole-genome studies, and multiomics research on cardiovascular diseases associated with SCD, particularly in Africa, to allow for proportional investment of global research funding on diseases that greatly impact the African continent. Ultimately, this will cultivate socially responsible research investments and identification of at-risk individuals with improved preventive medicine, which should be a cornerstone of global precision medicine.

  8. Genomic Architecture of Sickle Cell Disease in West African Children

    Directory of Open Access Journals (Sweden)

    Jacklyn eQuinlan

    2014-02-01

    Full Text Available Sickle cell disease (SCD is a congenital blood disease, affecting predominantly children from sub-Saharan Africa, but also populations world-wide. Although the causal mutation of SCD is known, the sources of clinical variability of SCD remain poorly understood, with only a few highly heritable traits associated with SCD having been identified. Phenotypic heterogeneity in the clinical expression of SCD is problematic for follow-up, management, and treatment of patients. Here we used the joint analysis of gene expression and whole genome genotyping data to identify the genetic regulatory effects contributing to gene expression variation among groups of patients exhibiting clinical variability, as well as unaffected siblings, in Benin, West Africa. We characterized and replicated patterns of whole blood gene expression variation within and between SCD patients at entry to clinic, as well as in follow-up programs. We present a global map of genes involved in the disease through analysis of whole blood sampled from the cohort. Genome-wide association mapping of gene expression revealed 390 peak genome-wide significant expression SNPs (eSNPs and 6 significant eSNP-by-clinical status interaction effects. The strong modulation of the transcriptome implicates pathways affecting core circulating cell functions and shows how genotypic regulatory variation likely contributes to the clinical variation observed in SCD.

  9. Macrophage activation marker sCD163 correlates with accelerated lipolysis following LPS exposure: a human-randomised clinical trial

    Directory of Open Access Journals (Sweden)

    Nikolaj Rittig

    2018-01-01

    Full Text Available Background: Macrophage activation determined by levels of soluble sCD163 is associated with obesity, insulin resistance, diabetes mellitus type 2 (DM2 and non-alcoholic fatty liver disease (NAFLD. This suggests that macrophage activation is involved in the pathogenesis of conditions is characterised by adaptions in the lipid metabolism. Since sCD163 is shed to serum by inflammatory signals including lipopolysaccharides (LPS, endotoxin, we investigated sCD163 and correlations with lipid metabolism following LPS exposure. Methods: Eight healthy male subjects were investigated on two separate occasions: (i following an LPS exposure and (ii following saline exposure. Each study day consisted of a four-hour non-insulin-stimulated period followed by a two-hour hyperinsulinemic euglycemic clamp period. A 3H-palmitate tracer was used to calculate the rate of appearance (Rapalmitate. Blood samples were consecutively obtained throughout each study day. Abdominal subcutaneous adipose tissue was obtained for western blotting. Results: We observed a significant two-fold increase in plasma sCD163 levels following LPS exposure (P < 0.001, and sCD163 concentrations correlated positively with the plasma concentration of free fatty acids, Rapalmitate, lipid oxidation rates and phosphorylation of the hormone-sensitive lipase at serine 660 in adipose tissue (P < 0.05, all. Furthermore, sCD163 concentrations correlated positively with plasma concentrations of cortisol, glucagon, tumour necrosis factor (TNF-α, interleukin (IL-6 and IL-10 (P < 0.05, all. Conclusion: We observed a strong correlation between sCD163 and stimulation of lipolysis and fat oxidation following LPS exposure. These findings support preexisting theory that inflammation and macrophage activation play a significant role in lipid metabolic adaptions under conditions such as obesity, DM2 and NAFLD.

  10. Coagulation Abnormalities of Sickle Cell Disease: Relationship with Clinical Outcomes and the Effect of Disease Modifying Therapies

    Science.gov (United States)

    Noubouossie, Denis; Key, Nigel S.; Ataga, Kenneth I.

    2015-01-01

    Sickle cell disease (SCD) is a hypercoagulable state. Patients exhibit increased platelet activation, high plasma levels of markers of thrombin generation, depletion of natural anticoagulant proteins, abnormal activation of the fibrinolytic system, and increased tissue factor expression, even in the non-crisis “steady state.” Furthermore, SCD is characterized by an increased risk of thrombotic complications. The pathogenesis of coagulation activation in SCD appears to be multi-factorial, with contributions from ischemia-reperfusion injury and inflammation, hemolysis and nitric oxide deficiency, and increased sickle RBC phosphatidylserine expression. Recent studies in animal models suggest that activation of coagulation may contribute to the pathogenesis of SCD, but the data on the contribution of coagulation and platelet activation to SCD-related complications in humans are limited. Clinical trials of new generations of anticoagulants and antiplatelet agents, using a variety of clinical endpoints are warranted. PMID:26776344

  11. Scintigraphic follow-up of the effects of therapy with hydroxyurea on splenic function in patients with sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Santos, Allan [Division of Nuclear Medicine, Department of Radiology, Campinas State University (UNICAMP), Campinas (Brazil); Servico de Medicina Nuclear, Hospital das Clinicas da UNICAMP, Campina (Brazil); Pinheiro, Vitoria; Anjos, Ana Claudia; Brandalise, Silvia [Centro Infantil Domingos A. Boldrini, Campinas (Brazil); Fahel, Fernanda; Lima, Mariana; Etchebehere, Elba; Ramos, Celso; Camargo, Edwaldo E. [Division of Nuclear Medicine, Department of Radiology, Campinas State University (UNICAMP), Campinas (Brazil)

    2002-04-01

    Patients with sickle cell disease (SCD) may develop functional asplenia as a chronic complication, secondary to repeated episodes of polymerisation of haemoglobin S. It is known that increased plasma concentrations of fetal haemoglobin (HbF) reduce the polymerisation of haemoglobin S. Hydroxyurea is a chemotherapeutic agent capable of increasing HbF levels in the red blood cells and its use has recently been proposed in the treatment of SCD. The objective of this study was to evaluate the effects of long-term therapy with hydroxyurea on recovery of splenic function. Twenty-one patients (aged 3-22 years; 14 with SS haemoglobinopathy, 7 with S{beta}{sup 0} haemoglobinopathy) were studied with liver/spleen scintigraphy before and after 6 and 12 months of treatment. All studies were submitted to visual inspection and semi-quantitative analyses using spleen/liver ratios. Imaging prior to treatment demonstrated functional asplenia in nine SS patients and one S{beta}{sup 0} patient and impaired splenic function in five SS patients and six S{beta}{sup 0} patients. After treatment, splenic function improved in ten patients, remained unchanged in eight and worsened in three. Using liver/spleen imaging, it was possible to demonstrate that hydroxyurea is capable of improving splenic function in some SCD patients. Improvement is not always possible and frequently does not lead to a normal splenic function even after 1 year of treatment. (orig.)

  12. Effect of active prenatal management on pregnancy outcome in sickle cell disease in an African setting.

    Science.gov (United States)

    Rahimy, M C; Gangbo, A; Adjou, R; Deguenon, C; Goussanou, S; Alihonou, E

    2000-09-01

    Sickle cell disease (SCD) is associated with an increased risk of medical complications during pregnancy. In sub-Saharan Africa, fetal and maternal mortality rates are particularly high. This study evaluated the effect of an active prenatal management program on pregnancy outcome in patients with SCD in an African setting. Pregnant women with SCD attending the National Teaching Hospital in Cotonou (The Republic of Benin, West Africa) were recruited before the 28th week of gestation. Management was based on providing information and education about SCD and improving nutritional status, malaria prevention, early detection of bacterial infections, and restricted use of blood transfusion. Maternal and fetal mortality rates and SCD-related morbidity were the principal variables assessed. One hundred and eight patients (42 SS and 66 SC) with 111 fetuses were included in the study. Thirteen fetal deaths (from 9 SS and 4 SC mothers) were recorded and 2 deaths of SC mothers. The maternal mortality rate of 1.8% was comparable with the overall maternal mortality rate for this maternity unit (1.2%). Few SCD-related events were recorded. Plasmodium falciparum malaria infection was the major cause of morbidity. Sixty-three patients (19 SS and 44 SC) successfully completed their pregnancy (58.3%) without requiring transfusion. Providing pregnant SCD patients with relevant medical care based on simple cost-effective approaches can have a positive impact on SCD-associated morbidity and mortality in an otherwise difficult setting in Africa. (Blood. 2000;96:1685-1689)

  13. Patients with sickle cell disease are frequently excluded from the benefits of transcranial doppler screening for the risk of stroke despite extensive and compelling evidence

    Directory of Open Access Journals (Sweden)

    Daniela Laranja Gomes Rodrigues

    Full Text Available ABSTRACT Transcranial doppler (TCD is a strategic component of primary stroke prevention in children with sickle cell disease (SCD. This study was conducted to examine the TCD characteristics of children with SCD in nine different medical centers in Brazil. Methods: Transcranial doppler was performed in accordance with the Stroke Prevention Trial in Sickle Cell Anemia Protocol. Results: Of the 396 patients, 69.5% had homozygous SS hemoglobin. The TCD result was abnormal in 4.8%, conditional in 12.6%, inadequate in 4.3% and abnormally low in 1% of patients. The highest mean flow velocities were 121±23.83cm/s and 124±27.21cm/s in the left and right middle cerebral artery respectively. A total of 28.8% patients (mean age 9.19±5.92 years were evaluated with TCD for the first time. Conclusions: The SCD patients were evaluated with TCD at an older age, representing an important missed opportunity for stroke prevention. Since TCD screening in patients with SCD is important to detect those at high risk for stroke, it is recommended that this screening should be made more readily available.

  14. SCD1 thermal design and test result analysis

    Science.gov (United States)

    Cardoso, Humberto Pontes; Muraoka, Issamu; Mantelli, Marcia Barbosa Henriques; Leite, Rosangela M. G.

    1990-01-01

    The SCD 01 (Satelite de Coleta de Dados 01) is a spin stabilized low Earth orbit satellite dedicated to the collection and distribution of environmental data. It was completely developed at the Brazilian Institute for Space Research (INPE) and is scheduled to be launched in 1992. The SCD 01 passive thermal control design configuration is presented and the thermal analysis results are compared with the temperatures obtained from a Thermal Balance Test. The correlation between the analytical and experimental results is considered very good. Numerical flight simulations show that the thermal control design can keep all the subsystem temperatures within their specified temperature range.

  15. Academic attainment findings in children with sickle cell disease.

    Science.gov (United States)

    Epping, Amanda S; Myrvik, Matthew P; Newby, Robert F; Panepinto, Julie A; Brandow, Amanda M; Scott, J Paul

    2013-08-01

    Children with sickle cell disease (SCD) demonstrate deficits in cognitive and academic functioning. This study compared the academic attainment of children with SCD relative to national, state, and local school district rates for African American students. A retrospective chart review of children with SCD was completed and academic information was collected from caregiver report and school records. One-sample tests of proportions were calculated to compare academic attainment rates in children with SCD relative to national, state, and local school district normative data of African American students. Overall, 197 patient records were reviewed. A higher proportion of children with SCD were retained a grade relative to national, state, and local school district rates for African American students. In addition, a higher proportion of children with SCD received special education services relative to the national, state, and local school district rates for African American students. Children with SCD demonstrate higher rates of special education services and grade retention relative to African American peers. Overall, children with SCD demonstrate poorer academic attainment relative to healthy, African American peers highlighting the need for increased focus on special education services to address school performance issues within this population. © 2013, American School Health Association.

  16. Racial differences in sudden cardiac death among hypertensive patients during antihypertensive therapy: the LIFE study.

    Science.gov (United States)

    Okin, Peter M; Kjeldsen, Sverre E; Julius, Stevo; Dahlöf, Björn; Devereux, Richard B

    2012-04-01

    In the general population, blacks appear to have a higher risk of sudden cardiac death (SCD). To determine whether black hypertensive patients have a higher SCD incidence. The incidence of SCD was examined in 533 black and 8660 nonblack hypertensive patients with electrocardiographic left ventricular hypertrophy randomly assigned to losartan- or atenolol-based treatment. During a mean follow-up of 4.8 ± 0.9 years, SCD occurred in 178 patients (1.9%); 5-year SCD incidence was significantly higher in black than in nonblack patients (3.9% vs 1.9%; P = .007). In univariate Cox analyses, black patients had a 97% higher risk of SCD (hazard ratio 1.97; 95% confidence interval 1.19-3.25; P = .015). In multivariate Cox analyses adjusting for randomized treatment, age, sex, body mass index, diabetes, history of heart failure, atrial fibrillation, myocardial infarction, ischemic heart disease, stroke, peripheral vascular disease, smoking, serum total and high-density lipoprotein cholesterol level, creatinine level, glucose level, and urine albumin/creatinine ratio and for incident myocardial infarction, in-treatment heart rate, QRS duration, diastolic and systolic pressure, Cornell voltage-duration product, and Sokolow-Lyon voltage left ventricular hypertrophy treated as time-varying covariates, black race remained associated with a 98% increased risk of SCD (hazard ratio 1.98; 95% confidence interval 1.12-3.59; P = .020). Black hypertensive patients are at increased risk of SCD. The higher risk of SCD in black patients persists after adjusting for the higher prevalence of risk factors in black patients, in-treatment blood pressure, and the established predictive value of in-treatment electrocardiographic left ventricular hypertrophy and heart rate for SCD in this population. Copyright © 2012 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  17. Significance of electronic health records: A comparative study of vaccination rates in patients with sickle cell disease.

    Science.gov (United States)

    Korur, Asli; Asma, Süheyl; Gereklioglu, Cigdem; Solmaz, Soner; Boga, Can; Ozsahin, Akatlı Kürsat; Kut, Altug

    2017-01-01

    In this study, we investigated the influence of electronic health records (EHR) and electronic vaccination schedule applications on the vaccination status of patients who were admitted to our Center for the treatment of sickle cell disease (SCD). The vaccination status against influenza and pneumococcus infection was determined in 93 patients who were admitted to the hematology outpatient clinic, Baskent University Adana Hospital from April 2004 to March 2009. The vaccination status was then re-evaluated following establishment of EHR and electronic vaccination schedules in 2012. Of the 93 patients with SCD 21.5% (n = 20) were vaccinated against pneumococcus and 21.5% (n = 20) were regularly vaccinated against influenza. When the vaccination rates of 59 of 93 patients who presented for their regular control examinations were analyzed following establishment of EHR and vaccination schedules in 2012, these rates were 49.2% (n = 29) and 50.8% (n = 30) for influenza and pneumococcus, respectively, after EHR; there were 23.7% (n = 14) and 20.3% (n = 12), respectively, before EHR. A statistically significant difference was found between the vaccination rates before and after EHR (p < 0.05). Although viral and bacterial infections are life-threatening health problems in patients with SCD, the vaccination rates were low in high-risk patients. However, these rates increased after application of electronic vaccination schedules.

  18. Iron deposition in cranial bone marrow with sickle cell disease: MR assessment using a fat suppression technique

    Energy Technology Data Exchange (ETDEWEB)

    Kaneko, K. (Dept. of Radiology, Tulane Univ. Medical Center, New Orleans, LA (United States)); Humbert, J.H. (Dept. of Pediatrics, Tulane Univ. Medical Center, New Orleans, LA (United States)); Kogutt, M.S. (Dept. of Radiology, Tulane Univ. Medical Center, New Orleans, LA (United States)); Robinson, A.E. (Dept. of Radiology, Tulane Univ. Medical Center, New Orleans, LA (United States))

    1993-10-01

    Thirteen patients with sickle cell disease (SCD) undergoing transfusion therapy and 8 control patients were examined by magnetic resonance imaging to discriminate bone marrow change due to iron deposition from hematologic marrow hyperplasia. Using T1-weighted spin echo images, only two subjects showed extremely low signal intensity marrow compatible with iron deposition. However, using T2-weighted fast spin echo images with fat suppression, cranial bone marrow in SCD patients with transfusion therapy showed considerably lower signal than that of controls. The main cause of marrow signal decrease in SCD patients with transfusion therapy was considered to be iron deposition due to repeated transfusion therapy rather than red marrow hyperplasia. (orig.)

  19. Iron deposition in cranial bone marrow with sickle cell disease: MR assessment using a fat suppression technique

    International Nuclear Information System (INIS)

    Kaneko, K.; Humbert, J.H.; Kogutt, M.S.; Robinson, A.E.

    1993-01-01

    Thirteen patients with sickle cell disease (SCD) undergoing transfusion therapy and 8 control patients were examined by magnetic resonance imaging to discriminate bone marrow change due to iron deposition from hematologic marrow hyperplasia. Using T1-weighted spin echo images, only two subjects showed extremely low signal intensity marrow compatible with iron deposition. However, using T2-weighted fast spin echo images with fat suppression, cranial bone marrow in SCD patients with transfusion therapy showed considerably lower signal than that of controls. The main cause of marrow signal decrease in SCD patients with transfusion therapy was considered to be iron deposition due to repeated transfusion therapy rather than red marrow hyperplasia. (orig.)

  20. Quantitative sensory testing is feasible and is well-tolerated in patients with sickle cell disease following a vaso-occlusive episode

    Directory of Open Access Journals (Sweden)

    Bakshi N

    2018-02-01

    Full Text Available Nitya Bakshi,1 Ines Lukombo,1,2 Inna Belfer,3 Lakshmanan Krishnamurti1 1Division of Pediatric Hematology-Oncology, Department of Pediatrics, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, 2University of Pittsburgh, 3Department of Anesthesiology, University of Pittsburgh, Pittsburgh, PA, USA Introduction: Sickle cell disease (SCD is an inherited blood disorder characterized by abnormally shaped sickle cells. The hallmark of this disease is intermittent, painful vaso-occlusive episodes (VOE, but a subset of individuals with SCD experience chronic pain. The mechanism of transition to chronic pain is not well understood in SCD, but there is evidence of altered pain processing in individuals with SCD. The impact of VOE on pain sensitivity is not established. The objective of this study was to determine the feasibility and tolerability of quantitative sensory testing (QST in SCD following a VOE to better understand the contribution of VOE to the development of chronic pain. Methods: As part of a larger pain sensitivity study, pediatric patients with SCD were offered QST following a VOE-related Emergency Room visit or inpatient hospitalization. The feasibility of recruitment and completion of QST was measured, and tolerability of QST was determined using post-QST assessments of pain, and compared with measurements at steady state. Results: Ten participants completed QST following a VOE. The median age was 16.5, and 60% were female. Overall, 10 of 16 (62.5% patients approached for QST following VOE completed QST. This included 8 of 12 patients who had previously completed QST at steady state. There were no statistically significant differences in pain intensity and Gracely Box scores after QST following a VOE, when compared to steady-state QST. Conclusion: QST is feasible and is well-tolerated following a VOE in patients with SCD. Large prospective studies are needed to determine the impact of VOE on experimental pain sensitivity and must

  1. MRI-based cerebrovascular reactivity using transfer function analysis reveals temporal group differences between patients with sickle cell disease and healthy controls.

    Science.gov (United States)

    Leung, Jackie; Duffin, James; Fisher, Joseph A; Kassner, Andrea

    2016-01-01

    Cerebrovascular reactivity (CVR) measures the ability of cerebral blood vessels to change their diameter and, hence, their capacity to regulate regional blood flow in the brain. High resolution quantitative maps of CVR can be produced using blood-oxygen level-dependent (BOLD) magnetic resonance imaging (MRI) in combination with a carbon dioxide stimulus, and these maps have become a useful tool in the clinical evaluation of cerebrovascular disorders. However, conventional CVR analysis does not fully characterize the BOLD response to a stimulus as certain regions of the brain are slower to react to the stimulus than others, especially in disease. Transfer function analysis (TFA) is an alternative technique that can account for dynamic temporal relations between signals and has recently been adapted for CVR computation. We investigated the application of TFA in data on children with sickle cell disease (SCD) and healthy controls, and compared them to results derived from conventional CVR analysis. Data from 62 pediatric patients with SCD and 34 age-matched healthy controls were processed using conventional CVR analysis and TFA. BOLD data were acquired on a 3 Tesla MRI scanner while a carbon dioxide stimulus was quantified by sampling the end-tidal partial pressures of each exhaled breath. In addition, T1 weighted structural imaging was performed to identify grey and white matter regions for analysis. The TFA method generated maps representing both the relative magnitude change of the BOLD signal in response to the stimulus (Gain), as well as the BOLD signal speed of response (Phase) for each subject. These were compared to CVR maps calculated from conventional analysis. The effect of applying TFA on data from SCD patients versus controls was also examined. The Gain measures derived from TFA were significantly higher than CVR values based on conventional analysis in both SCD patients and healthy controls, but the difference was greater in the SCD data. Moreover

  2. Is there an added value of faecal calprotectin and haemoglobin in the diagnostic work-up for primary care patients suspected of significant colorectal disease? A cross-sectional diagnostic study

    NARCIS (Netherlands)

    Elias, Sjoerd G.; Kok, Liselotte; de Wit, NJ; Witteman, Ben J. M.; Goedhard, Jelle G.; Romberg-Camps, Marielle J. L.; Muris, Jean W. M.; Moons, Karel G. M.

    2016-01-01

    Background The majority of primary care patients referred for bowel endoscopy do not have significant colorectal disease (SCD), and are – in hindsight – unnecessarily exposed to a small but realistic risk of severe endoscopy-associated complications. We developed a diagnostic strategy to better

  3. Increased plasma soluble CD40 ligand concentration in pelvic inflammatory disease.

    Science.gov (United States)

    Ho, Tsung-chin; Yang, Shun-Fa; Wang, Po-Hui; Lin, Long-Yau; Tee, Yi-Torng; Liao, Wen-Chun; Chang, Hsiu-Ju; Tsai, Hsiu-Ting

    2015-01-01

    The role of soluble CD40 ligand (sCD40L) in pelvic inflammatory disease (PID) remains unclear. We sought to determine whether sCD40L was an efficient serum marker as with WBC and CRP in PID patients. Enzyme-linked immunosorbent assay was used to measure the plasma levels of sCD40L before and after routine protocol treatments in sixty-four PID patients and seventy healthy controls. The level of plasma sCD40L (pg/ml) was significantly elevated in PID patients (1632.83±270.91) compared to that in normal controls (700.33±58.77; p=0.001) and decreased significantly as compared to that in the same patients (928.77±177.25; p=0.0001) after they received treatment. The concentration of sCD40L was significantly correlated with the level of plasma C-reactive protein (CRP) in the blood (r=0.202, p=0.01, n=134). When the cutoff level of plasma sCD40L levels was determined to be 1612.26pg/ml based on ROC, the sensitivity, specificity, and the area under the curve of plasma sCD40L level for predicting PID were 0.26, 0.97, and 0.58 (95% confidence interval: 0.48-0.68), respectively, while the adjusted odds ratio (AOR) with their 95% CI of plasma sCD40L for PID risk was 7.09 (95% CI=1.14-43.87, p=0.03). The expression of plasma sCD40L was increased in patients with PID and detection of plasma sCD40L could be useful for the diagnosis of PID. Copyright © 2014 Elsevier B.V. All rights reserved.

  4. Double disadvantage: a case control study on health-related quality of life in children with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Heijboer Harriët

    2010-10-01

    Full Text Available Abstract Background Low health-related quality of life (HRQoL of children with sickle cell disease (SCD may be associated with consequences of the disease, or with the low socio-economic status (SES of this patient population. The aim of this study was to investigate the HRQoL of children with SCD, controlling for SES by comparing them to healthy siblings (matched for age and gender, and to a Dutch norm population. Methods The HRQoL of 40 children with homozygous SCD and 36 healthy siblings was evaluated by the KIDSCREEN-52. This self-report questionnaire assesses ten domains of HRQoL. Differences between children with SCD and healthy siblings were analyzed using linear mixed models. One-sample t-tests were used to analyze differences with the Dutch norm population. Furthermore, the proportion of children with SCD with impaired HRQoL was evaluated. Results In general, the HRQoL of children with SCD appeared comparable to the HRQoL of healthy siblings, while children with SCD had worse HRQoL than the Dutch norm population on five domains (Physical Well-being, Moods & Emotions, Autonomy, Parent Relation, and Financial Resources. Healthy siblings had worse HRQoL than the Dutch norm population on three domains (Moods & Emotions, Parent Relation, and Financial Resources. More than one in three children with SCD and healthy siblings had impaired HRQoL on several domains. Conclusion These findings imply that reduced HRQoL in children with SCD is mainly related to the low SES of this patient population, with the exception of disease specific effects on the physical and autonomy domain. We conclude that children with SCD are especially vulnerable compared to other patient populations, and have special health care needs.

  5. The effect of hypnosis on pain and peripheral blood flow in sickle-cell disease: a pilot study

    Science.gov (United States)

    Bhatt, Ravi R; Martin, Sarah R; Evans, Subhadra; Lung, Kirsten; Coates, Thomas D; Zeltzer, Lonnie K; Tsao, Jennie C

    2017-01-01

    Background Vaso-occlusive pain crises (VOCs) are the “hallmark” of sickle-cell disease (SCD) and can lead to sympathetic nervous system dysfunction. Increased sympathetic nervous system activation during VOCs and/or pain can result in vasoconstriction, which may increase the risk for subsequent VOCs and pain. Hypnosis is a neuromodulatory intervention that may attenuate vascular and pain responsiveness. Due to the lack of laboratory-controlled pain studies in patients with SCD and healthy controls, the specific effects of hypnosis on acute pain-associated vascular responses are unknown. The current study assessed the effects of hypnosis on peripheral blood flow, pain threshold, tolerance, and intensity in adults with and without SCD. Subjects and methods Fourteen patients with SCD and 14 healthy controls were included. Participants underwent three laboratory pain tasks before and during a 30-minute hypnosis session. Peripheral blood flow, pain threshold, tolerance, and intensity before and during hypnosis were examined. Results A single 30-minute hypnosis session decreased pain intensity by a moderate amount in patients with SCD. Pain threshold and tolerance increased following hypnosis in the control group, but not in patients with SCD. Patients with SCD exhibited lower baseline peripheral blood flow and a greater increase in blood flow following hypnosis than controls. Conclusion Given that peripheral vasoconstriction plays a role in the development of VOC, current findings provide support for further laboratory and clinical investigations of the effects of cognitive–behavioral neuromodulatory interventions on pain responses and peripheral vascular flow in patients with SCD. Current results suggest that hypnosis may increase peripheral vasodilation during both the anticipation and experience of pain in patients with SCD. These findings indicate a need for further examination of the effects of hypnosis on pain and vascular responses utilizing a randomized

  6. Intracranial Aneurysms in Sickle-Cell Disease Are Associated With the Hemoglobin SS Genotype But Not With Moyamoya Syndrome

    DEFF Research Database (Denmark)

    Birkeland, Peter; Gardner, Kate; Kesse-Adu, Rachel

    2016-01-01

    BACKGROUND AND PURPOSE: Intracranial aneurysms and aneurysmal subarachnoid hemorrhage may occur more frequently in sickle-cell disease (SCD), and this could be related to the sickle genotype and moyamoya syndrome seen in SCD. METHODS: Records from a total of 1002 patients with SCD attending 2...... had imaging data; the prevalence was significantly higher in patients with HbSS genotype compared with other sickle genotypes with the highest prevalence (15%) observed in women in the age group 30 to 39 years. Fifty-one HbSS patients had a moyamoya vasculopathy, but only 3 of these had concomitant...

  7. Risk of Asymptomatic Bacteriuria among People with Sickle Cell Disease in Accra, Ghana

    Directory of Open Access Journals (Sweden)

    Eric S. Donkor

    2017-02-01

    Full Text Available Asymptomatic bacteriuria (ASB is benign except in certain medical conditions such as pregnancy and immunosuppression. In Ghana, there are hardly any studies on urinary infections among sickle cell disease (SCD patients, and the few studies carried out in Africa focused on pediatric SCD populations. The current study aimed to investigate the risk of ASB among SCD patients at a tertiary hospital in Ghana. This was a cross-sectional study involving 110 SCD patients and 110 age and sex matched healthy controls. Urine specimens were collected from all the study subjects and analyzed by standard microbiological methods. Demographic information were also collected from the study subjects. The overall ASB prevalence was significantly higher among SCD patients (17.2% than among the control group (8.2%, and the relative risk was 2.11 (p = 0.0431; CI = 1.00–4.45. Being female was as a predictor of ASB among the SCD patients (OR = 14.76; CI = 11.23–18.29; p = 0.0103. The most common organism isolated from the study participants was coagulase negative Staphylococcus species (4.1%, followed by Escherichia coli (2.7%; etiology of ASB in the SCD patients was more diverse compared to healthy people. All the E. coli isolates were susceptible to amikacin, sparfloxacin and norfloxacin but resistant to ampicillin.

  8. Red blood cell alloimmunization in sickle cell disease patients in ...

    African Journals Online (AJOL)

    Objective: Alloimmunization is a recognized complication of red blood cell (RBC) transfusion and causes delayed hemolytic transfusion reactions and provides problems sourcing compatible blood for future transfusions. The objective of this study was to determine the frequency of RBC alloimmunization in SCD patients in ...

  9. Ambulatory Quality Indicators to Prevent Infection in Sickle Cell Disease

    OpenAIRE

    Beverung, Lauren M.; Brousseau, David; Hoffmann, Raymond G.; Yan, Ke; Panepinto, Julie A.

    2014-01-01

    The purpose of the present study was to identify rates of adherence for three outpatient quality indicators noted by Wang and colleagues (2011): (1) influenza vaccine, (2) pneumococcal immunizations, and (3) penicillin prophylaxis in patients with sickle cell disease (SCD) in a Medicaid sample. These variables were chosen based on Wang and colleagues’ suggestion that these variables are important for the assessment of the quality of care of children with SCD. We hypothesized that the overall ...

  10. Thyroid Disease in the Older Patient

    Science.gov (United States)

    ... Older Patients and Thyroid Disease Older Patients and Thyroid Disease DEFINITION: WHAT DO THE FOLLOWING PATIENTS OVER THE ... Nodules in Children and Adolescents Older Patients and Thyroid Disease Resources Older Patients and Thyroid Disease Brochure PDF ...

  11. Amniotic fluid concentrations of soluble scavenger receptor for hemoglobin (sCD163) in pregnancy complicated by preterm premature rupture of the membranes and histologic chorioamnionitis.

    Science.gov (United States)

    Kacerovsky, Marian; Drahosova, Marcela; Andrys, Ctirad; Hornychova, Helena; Tambor, Vojtech; Lenco, Juraj; Tosner, Jindrich; Krejsek, Jan

    2011-08-01

    To determine changes in the amniotic fluid, soluble form of scavenger receptor for hemoglobin (sCD163) concentrations during advancing gestation, and in patients with preterm premature rupture of membranes (PPROM) complicated by histological chorioamnionitis were studied. One hundred and fifty-two women with singleton pregnancies were enrolled. The concentration of sCD163 in amniotic fluid was determined using sandwich enzyme immunoassay technique. Women in the midtrimester had a significantly higher median amniotic fluid sCD163 concentration than those at term not in labor (308 ng/ml vs. 217 ng/ml; p = 0.04). Patients with PPROM and histological chorioamnionitis had a higher median amniotic fluid sCD163 level than those with PPROM without histological chorioamnionitis (885 ng/ml vs. 288 ng/ml; p < 0.0001). Amniotic fluid sCD163 concentrations decrease with advancing gestation. Amniotic fluid sCD163 concentrations are significantly higher in women with PPROM between 24 and 36 gestational weeks with histological chorioamnionitis than those without histological signs of inflammation.

  12. East Mediterranean region sickle cell disease mortality trial: retrospective multicenter cohort analysis of 735 patients.

    Science.gov (United States)

    Karacaoglu, Pelin Kardaş; Asma, Suheyl; Korur, Aslı; Solmaz, Soner; Buyukkurt, Nurhilal Turgut; Gereklioglu, Cigdem; Kasar, Mutlu; Ozbalcı, Demircan; Unal, Selma; Kaya, Hasan; Gurkan, Emel; Yeral, Mahmut; Sariturk, Çagla; Boga, Can; Ozdogu, Hakan

    2016-05-01

    Sickle cell disease (SCD), one of the most common genetic disorders worldwide, is characterized by hemolytic anemia and tissue damage from the rigid red blood cells. Although hydroxyurea and transfusion therapy are administered to treat the accompanying tissue injury, whether either one prolongs the lifespan of patients with SCD is unknown. SCD-related mortality data are available, but there are few studies on mortality-related factors based on evaluations of surviving patients. In addition, ethnic variability in patient registries has complicated detailed analyses. The aim of this study was to investigate mortality and mortality-related factors among an ethnically homogeneous population of patients with SCD. The 735 patients (102 children and 633 adults) included in this retrospective cohort study were of Eti-Turk origin and selected from 1367 patients seen at 5 regional hospitals. A central population management system was used to control for records of patient mortality. Data reliability was checked by a data supervision group. Mortality-related factors and predictors were identified in univariate and multivariate analyses using a Cox regression model with stepwise forward selection. The study group included patients with homozygous hemoglobin S (Hgb S) disease (67 %), Hb S-β(0) thalassemia (17 %), Hgb S-β(+) thalassemia (15 %), and Hb S-α thalassemia (1 %). They were followed for a median of 66 ± 44 (3-148) months. Overall mortality at 5 years was 6.1 %. Of the 45 patients who died, 44 (6 %) were adults and 1 (0.1 %) was a child. The mean age at death was 34.1 ± 10 (18-54) years for males, 40.1 ± 15 (17-64) years for females, and 36.6 ± 13 (17-64) years overall. Hydroxyurea was found to have a notable positive effect on mortality (p = 0.009). Mortality was also significantly related to hypertension and renal damage in a univariate analysis (p = 0.015 and p = 0.000, respectively). Acute chest syndrome

  13. An acute hemolytic transfusion reaction due to anti-IH in a patient with sickle cell disease.

    Science.gov (United States)

    Campbell, S A; Shirey, R S; King, K E; Ness, P M

    2000-07-01

    A hemolytic transfusion reaction (HTR) due to anti-IH is reported in a patient with sickle cell disease (SCD). An 18-year-old woman with SCD and a complete phenotype on file had been identified as group B-positive with negative antibody-screening tests and had received 1 unit of packed RBCs. Ten days later, she was readmitted in painful crisis with a Hb of 4.2 g per dL. Antibody-screening tests and panel cells were positive at all test phases with a negative autocontrol, which suggested alloantibodies. Phenotypically matched group O RBCs were issued emergently. After the transfusion of 100 mL, the patient had an HTR with chills, fever, and tachycardia and laboratory findings of hemoglobinemia, hemoglobinuria, and negative DATs. A high-titer, IgM anti-IH with a high thermal amplitude (reactive with group O, but not group B RBCs at 37 degrees C) was identified. Autologous RBCs appeared to have normal I antigen expression, but less H antigen than pooled group B RBCs. She was given group B RBCs, uneventfully, by use of a blood warmer. This is a rare case of anti-IH as the cause of a HTR, as a serologic problem that may be seen in SCD, and as an autoantibody that may mimic an alloantibody. Ironically, this HTR resulted from the effort to provide phenotypically matched RBCs, which necessitated the selection of group O RBCs.

  14. Sickle Cell Disease

    Science.gov (United States)

    ... the sickle cell gene on to their kids. Symptoms of sickle cell disease Anemia is a common symptom of SCD. It occurs from a lack of ... SCD cannot be prevented since it is genetic. Sickle cell disease treatment ... of SCD, your symptoms, and your overall health. Most treatment options aim ...

  15. Regulation of the bovine SCD5 promoter by EGR2 and SREBP1.

    Science.gov (United States)

    Lengi, Andrea J; Corl, Benjamin A

    2012-05-04

    In rodents, the transcription factors early growth response 2 (EGR2) and sterol regulatory element binding protein 1a (SREBP1a) regulate transcription of the stearoyl-CoA desaturase 2 (SCD2) gene during peripheral nerve myelination, which may be important for synthesis of the lipid component of myelin. Most non-rodent genomes do not contain the SCD2 gene, but rather express SCD5 in brain and nervous tissues. In this paper, we asked whether bovine SCD5 is regulated in a similar manner to rodent SCD2. Expression of EGR2 did not result in an increase in endogenous SCD5 mRNA expression in JEG3 cells, but did result in activation of truncated bovine SCD5 promoter luciferase reporter constructs. Similar results were obtained with expression of the active form of SREBP1a; however, unlike rodent SCD2, there was no synergistic activation of the bovine SCD5 promoter reporters when EGR2 and SREBP1a were co-expressed. Mutation of the putative EGR2 binding site in the SCD5 promoter abolished activation by SREBP1a, suggesting that EGR2 and SREBP1a bind to the same site in the SCD5 promoter. Finally, we have identified a region of the bovine SCD5 promoter between 505 and 305 base pairs upstream of the transcriptional start site that appears to be important for maintaining basal levels of transcription of this gene. While it appears that there are some differences between the regulation of rodent SCD2 and bovine SCD5, the promoters of both genes can be activated by EGR2 and SREBP1a. This is the first report of potential regulators of SCD5 transcription. Copyright © 2012 Elsevier Inc. All rights reserved.

  16. Further Characterization of the Bifunctional HIV Entry Inhibitor sCD4-FIT45

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    Alexander Falkenhagen

    2017-06-01

    Full Text Available HIV entry into target cells is a highly sequential and time-sensitive process. In recent years, potent HIV Env-targeting antibodies, such as VRC01, have been identified. However, antibodies bind only to a single epitope, and mutations that confer resistance to antibody-mediated inhibition of HIV entry have been detected. In contrast, HIV cannot escape from binding to soluble CD4 (sCD4 without a fitness disadvantage. sCD4 has the unique ability to induce conformational changes within the HIV envelope glycoproteins (Env that allow fusion inhibitors to bind. We have previously linked sCD4 to the fusion inhibitor FIT45 (sCD4-FIT45 and examined delivery of the bifunctional entry inhibitor via gene therapy. Here, we extend our studies and analyze the ability of sCD4-FIT45 to inhibit HIV Env-mediated cell fusion and HIV entry of several primary isolates. sCD4-FIT45 inhibited both cell fusion and HIV entry with remarkable antiviral activity. The mean 50% inhibitory concentrations (IC50 for sCD4-FIT45 were <0.2 μg/mL in both assays. Importantly, inhibition by sCD4-FIT45 was more potent than by VRC01, sCD4, or the previously described bifunctional protein sCD4-scFv17b. In contrast to sCD4, sCD4-FIT45 as well as VRC01 and sCD4-scFv17b did not mediate cell fusion between HIV Env+ and CD4−CCR5+ cells. The results presented here provide further evidence for the testing of sCD4-FIT45 and development of bifunctional proteins based on the sCD4-fusion inhibitor architecture.

  17. Further Characterization of the Bifunctional HIV Entry Inhibitor sCD4-FIT45.

    Science.gov (United States)

    Falkenhagen, Alexander; Joshi, Sadhna

    2017-06-16

    HIV entry into target cells is a highly sequential and time-sensitive process. In recent years, potent HIV Env-targeting antibodies, such as VRC01, have been identified. However, antibodies bind only to a single epitope, and mutations that confer resistance to antibody-mediated inhibition of HIV entry have been detected. In contrast, HIV cannot escape from binding to soluble CD4 (sCD4) without a fitness disadvantage. sCD4 has the unique ability to induce conformational changes within the HIV envelope glycoproteins (Env) that allow fusion inhibitors to bind. We have previously linked sCD4 to the fusion inhibitor FI T45 (sCD4-FI T45 ) and examined delivery of the bifunctional entry inhibitor via gene therapy. Here, we extend our studies and analyze the ability of sCD4-FI T45 to inhibit HIV Env-mediated cell fusion and HIV entry of several primary isolates. sCD4-FI T45 inhibited both cell fusion and HIV entry with remarkable antiviral activity. The mean 50% inhibitory concentrations (IC 50 ) for sCD4-FI T45 were <0.2 μg/mL in both assays. Importantly, inhibition by sCD4-FI T45 was more potent than by VRC01, sCD4, or the previously described bifunctional protein sCD4-scFv 17b . In contrast to sCD4, sCD4-FI T45 as well as VRC01 and sCD4-scFv 17b did not mediate cell fusion between HIV Env + and CD4 - CCR5 + cells. The results presented here provide further evidence for the testing of sCD4-FI T45 and development of bifunctional proteins based on the sCD4-fusion inhibitor architecture. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  18. Head circumference of children with sickle cell disease in Lagos, Nigeria

    OpenAIRE

    Senbanjo, Idowu Odunayo; Oshikoya, Kazeem Adeola; Salisu, Mohammed; Diaku-Akinwumi, Ijeoma Nnenna

    2016-01-01

    Introduction Growth retardation and under-nutrition are common in children with sickle cell disease (SCD). The aim of this study was to compare the head circumference (HC) of SCD children and non-SCD children and to determine the effect of malnutrition on head circumference of children with SCD. Methods This was a prospective case-control study conducted at the Lagos State University Teaching Hospital, Nigeria, involving SCD children (subject, n = 118) and non-SCD children (control, n = 118) ...

  19. Development and Production of Array Barrier Detectors at SCD

    Science.gov (United States)

    Klipstein, P. C.; Avnon, E.; Benny, Y.; Berkowicz, E.; Cohen, Y.; Dobromislin, R.; Fraenkel, R.; Gershon, G.; Glozman, A.; Hojman, E.; Ilan, E.; Karni, Y.; Klin, O.; Kodriano, Y.; Krasovitsky, L.; Langof, L.; Lukomsky, I.; Nevo, I.; Nitzani, M.; Pivnik, I.; Rappaport, N.; Rosenberg, O.; Shtrichman, I.; Shkedy, L.; Snapi, N.; Talmor, R.; Tessler, R.; Weiss, E.; Tuito, A.

    2017-09-01

    XB n or XB p barrier detectors exhibit diffusion-limited dark currents comparable with mercury cadmium telluride Rule-07 and high quantum efficiencies. In 2011, SemiConductor Devices (SCD) introduced "HOT Pelican D", a 640 × 512/15- μm pitch InAsSb/AlSbAs XB n mid-wave infrared (MWIR) detector with a 4.2- μm cut-off and an operating temperature of ˜150 K. Its low power (˜3 W), high pixel operability (>99.5%) and long mean time to failure make HOT Pelican D a highly reliable integrated detector-cooler product with a low size, weight and power. More recently, "HOT Hercules" was launched with a 1280 × 1024/15- μm format and similar advantages. A 3-megapixel, 10- μm pitch version ("HOT Blackbird") is currently completing development. For long-wave infrared applications, SCD's 640 × 512/15- μm pitch "Pelican-D LW" XB p type II superlattice (T2SL) detector has a ˜9.3- μm cut-off wavelength. The detector contains InAs/GaSb and InAs/AlSb T2SLs, and is fabricated into focal plane array (FPA) detectors using standard production processes including hybridization to a digital silicon read-out integrated circuit (ROIC), glue underfill and substrate thinning. The ROIC has been designed so that the complete detector closely follows the interfaces of SCD's MWIR Pelican-D detector family. The Pelican-D LW FPA has a quantum efficiency of ˜50%, and operates at 77 K with a pixel operability of >99% and noise equivalent temperature difference of 13 mK at 30 Hz and F/2.7.

  20. Molecular blood typing augments serologic testing and allows for enhanced matching of red blood cells for transfusion in patients with sickle cell disease.

    Science.gov (United States)

    Wilkinson, Katie; Harris, Samantha; Gaur, Prashant; Haile, Askale; Armour, Rosalind; Teramura, Gayle; Delaney, Meghan

    2012-02-01

    Sickle cell disease (SCD) patients have dissimilar red blood cell (RBC) phenotypes compared to the primarily Caucasian blood donor base due, in part, to underlying complex Rh and silenced Duffy expression. Gene array-based technology offers high-throughput antigen typing of blood donors and can identify patients with altered genotypes. The purpose of the study was to ascertain if RBC components drawn from predominantly Caucasian donors could provide highly antigen-matched products for molecularly typed SCD patients. SCD patients were genotyped by a molecular array (HEA Beadchip, BioArray Solutions). The extended antigen phenotype (C, c, E, e, K, k, Jk(a) , Jk(b) , Fy(a) , Fy(b) , S, s) was used to query the inventory using different matching algorithms; the resulting number of products was recorded. A mean of 96.2 RBC products was available for each patient at basic-level, 34 at mid-level, and 16.3 at high-level stringency. The number of negative antigens correlated negatively with the number of available products. The Duffy silencing mutation in the promoter region (67T>C) (GATA) was found in 96.5% of patients. Allowing Fy(b+) products for patients with GATA increased the number of available products by up to 180%, although it does not ensure prevention of Duffy antibodies in all patients. This feasibility study provides evidence that centers with primarily Caucasian donors may be able to provide highly antigen-matched products. Knowledge of the GATA status expands the inventory of antigen-matched products. Further work is needed to determine the most clinically appropriate match level for SCD patients. © 2012 American Association of Blood Banks.

  1. Diagnostic value of urine sCD163 levels for sepsis and relevant acute kidney injury: a prospective study

    Directory of Open Access Journals (Sweden)

    Su Longxiang

    2012-09-01

    Full Text Available Abstract Background Sepsis is a common syndrome in critically ill patients and easily leads to the occurrence of acute kidney injury (AKI, with high mortality rates. This study aimed to investigate the diagnostic value of urine soluble CD163 (sCD163 for identification of sepsis, severity of sepsis, and for secondary AKI, and to assess the patients’ prognosis. Methods We enrolled 20 cases with systemic inflammatory response syndrome (SIRS, 40 cases with sepsis (further divided into 17 sepsis cases and 23 severe sepsis cases admitted to the intensive care unit (ICU, and 20 control cases. Results for urine sCD163 were recorded on the day of admission to the ICU, and AKI occurrence was noted. Results On the day of ICU admission, the sepsis group exhibited higher levels of urine sCD163 (74.8 ng/ml; range: 47.9-148.3 ng/ml compared with those in the SIRS group (31.9 ng/ml; 16.8-48.0, P . The area under the curve (AUC was 0.83 (95% confidence interval [CI]: 0.72-0.94, P  the sensitivity was 0.83, and the specificity was 0.75 (based on a cut-off point of 43.0 ng/ml. Moreover, the severe sepsis group appeared to have a higher level of sCD163 compared with that in the sepsis group (76.2; 47.2-167.5 ng/ml vs. 74.2; 46.2-131.6 ng/ml, but this was not significant. For 15 patients with AKI, urine sCD163 levels at AKI diagnosis were significantly higher than those of the remaining 35 sepsis patients upon ICU admission (121.0; 74.6-299.1 ng/ml vs. 61.8; 42.8-128.3 ng/ml, P = 0.049. The AUC for urine sCD163 was 0.688 (95% CI: 0.51-0.87, P = 0.049. Sepsis patients with a poor prognosis showed a higher urine sCD163 level at ICU admission (98.6; 50.3-275.6 ng/ml vs. 68.0; 44.8-114.5 ng/ml, but this was not significant. Patients with AKI with a poor prognosis had higher sCD163 levels than those in patients with a better prognosis (205.9; 38.6-766.0 ng/ml vs. 80.9; 74.9-141.0 ng/ml, but this was not significant. Conclusions This study shows, for the

  2. Evaluation of renal function in sickle cell disease patients in Brazil

    Directory of Open Access Journals (Sweden)

    G.B. Silva Junior

    2012-07-01

    Full Text Available The objective of this study was to investigate renal function in a cohort of 98 patients with sickle cell disease (SCD followed up at a tertiary hospital in Brazil. Clinical and laboratory characteristics at the time of the most recent medical examination were analyzed. Renal function was evaluated by the estimation of glomerular filtration rate (GFR by the criteria of the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI. We compared patients with normal GFR to patients with decreased GFR (120 mL·min-1·(1.73 m²-1. Comparison between patients according to the use of hydroxyurea and comparison of clinical and laboratory parameters according to GFR were also carried out. Average patient age was 33.8 ± 13.3 years (range 19-67 years, and 57 (58.1% patients were females. The comparison of patients according to GFR showed that patients with decreased GFR (<60 mL·min-1·(1.73 m²-1 were older, had lower levels of hematocrit, hemoglobin and platelets and higher levels of urea and creatinine. Independent risk factors for decreased GFR were advanced age (OR = 21.6, P < 0.0001 and anemia (OR = 39.6, P < 0.0001. Patients with glomerular hyperfiltration tended to be younger, had higher levels of hematocrit, hemoglobin and platelets and lower levels of urea and creatinine, with less frequent urinary abnormalities. Hydroxyurea, at the dosage of 500-1000 mg/day, was being administered to 28.5% of the patients, and there was no significant difference regarding renal function between the two groups. Further studies are required to establish the best therapeutic approach to renal abnormalities in SCD.

  3. Risk factors for sudden cardiac death among patients with schizophrenia.

    Science.gov (United States)

    Hou, Ping-Yi; Hung, Galen Chin-Lun; Jhong, Jia-Rong; Tsai, Shang-Ying; Chen, Chiao-Chicy; Kuo, Chian-Jue

    2015-10-01

    Patients with schizophrenia suffer from excessive premature mortality, and sudden cardiac death (SCD) is receiving growing attention as a potential cause. The present study investigated the incidence of SCD and its risk factors in a large schizophrenia cohort. We enrolled a consecutive series of 8264 patients diagnosed with schizophrenia (according to DSM-III-R and DSM-IV criteria) who were admitted to a psychiatric center in northern Taiwan from January 1, 1985 through December 31, 2008. By linking with national mortality database, 64 cases of SCD were identified. The standardized mortality ratio (SMR) for SCD was estimated. The cases were matched with controls randomly selected using risk-set sampling in a 1:2 ratio. A standardized chart review process was used to collect socio-demographic and clinical characteristics and the prescribed drugs for each study subject. Multivariate conditional logistic regression analysis was used to identify correlates of SCD at the index admission and the latest admission. The SMR for SCD was 4.5. For the clinical profiles at the index admission, physical disease (adjusted risk ratio [aRR]=2.91, Paggressive behaviors (aRR=3.99, Paggressive behaviors (aRR=3.26, Paggression is a crucial risk factor that deserves ongoing work for clarifying the mechanisms mediating SCD in schizophrenia. Copyright © 2015 Elsevier B.V. All rights reserved.

  4. Decreased plasma levels of soluble CD18 link leukocyte infiltration with disease activity in spondyloarthritis

    DEFF Research Database (Denmark)

    Kragstrup, Tue W; Jalilian, Babak; Hvid, Malene

    2014-01-01

    can regulate the inflammatory processes in SpA. CONCLUSIONS: Taken together, the failure of SpA patients to maintain adequate sCD18 levels may reflect insufficient CD18 shedding from monocytes to counterbalance the capture of sCD18 complexes to inflammation induced ICAM-1. This could increase...... the availability of ICAM-1 molecules on the endothelium and in the synovium facilitating leukocyte migration to the entheses and joints and aggregating disease activity....

  5. Presence of pain on three or more days of the week is associated with worse patient reported outcomes in adults with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Bakshi N

    2018-02-01

    Full Text Available Nitya Bakshi,1,2 Diana Ross,1 Lakshmanan Krishnamurti1,2 1Division of Pediatric Hematology-Oncology-BMT, Department of Pediatrics, Emory University, Atlanta, GA, USA; 2Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, Atlanta, GA, USA Abstract: While acute episodic pain is the hallmark of sickle cell disease (SCD, transition to chronic pain is a major cause of morbidity and impaired quality of life. One of the core diagnostic criteria used by Analgesic, Anesthetic, and Addiction Clinical Trial Translations Innovations Opportunities and Networks-American Pain Society Pain Taxonomy (AAPT to define chronic SCD pain is the presence of pain on a “majority of days” in the past 6 months in one or more locations. The frequency characteristic of “majority of days” is adapted from the criteria of 15 days or more per month, used to define chronic migraine, but there are inadequate data to support this cutoff in SCD. Using an existing dataset of adults with SCD who completed patient-reported outcomes of pain interference, physical functioning, anxiety, depression, and fatigue using the National Institutes of Health (NIH patient-reported outcomes measures information system (PROMIS short-form instruments, we examined the association of the presence of pain on 3 or more days per week with patient-reported outcomes of functioning. In unadjusted analyses, presence of pain on 3 or more days a week was associated with higher median PROMIS scores of pain interference, anxiety, and depression. Median PROMIS scores of fatigue and physical function were worse in women compared with men in unadjusted analyses. We did not find any difference in median PROMIS pain scores between adults aged ≤35 years compared with those aged ≥35 years. In linear regression models, after adjustment for age and sex, the presence of pain on 3 or more days a week was found to be associated with worse pain interference and anxiety. These data support

  6. Sudden cardiac death and coronary disease in the young

    DEFF Research Database (Denmark)

    Zachariasardóttir, Sára; Risgaard, Bjarke; Ågesen, Frederik Nybye

    2017-01-01

    BACKGROUND: Sudden cardiac death caused by coronary artery disease (CAD-SCD) is the most frequent cause of SCD in persons characteristics and autopsy findings of the heart among 18-35 and 36-49year old CAD-SCD cases. METHODS: We...... to death in young CAD-SCD cases, which may enable clinicians to prevent these tragic deaths....

  7. Head circumference of children with sickle cell disease in Lagos ...

    African Journals Online (AJOL)

    Introduction: growth retardation and under-nutrition are common in children with sickle cell disease (SCD). The aim of this study was to compare the head circumference (HC) of SCD children and non-SCD children and to determine the effect of malnutrition on head circumference of children with SCD. Methods: this was a ...

  8. 'The white blood cell always eat the red': how Jamaicans with sickle cell disease understand their illness.

    Science.gov (United States)

    Anderson, Moji; Asnani, Monika

    2016-01-01

    To explore lay understandings of sickle cell disease (SCD) among Jamaicans living with the illness. There is no qualitative research on this subject in Jamaica, where SCD is the most common genetic disorder. Thirty in-depth semi-structured interviews (50% males, 50% urban residence) were conducted with adult patients attending the Sickle Cell Unit in Jamaica. Transcribed data were analysed using thematic analysis. Patients' narratives focused on two main themes: lay understandings of how SCD works (using ideas of attack and fortification, and blockage and flow); and what causes the illness (lay ideas of inheritance). The most common description of SCD was that their white blood cells were 'eating/sucking out/feeding on' their red blood cells. Hence, treatment required 'building up' their blood, while a key to good health was ensuring an unimpeded flow of blood. Most participants believed SCD was hereditary, but there were various understandings of the mechanism and probability of its transmission. Belief in the possibility of transmitting SCD was not always a barrier to reproduction, nor did participants always insist on their partner or child being tested. Participants engaged in medical pluralism, a dynamic combination of folk and biomedical beliefs. Their concerns, experiences and interpretations were powerful motivators of reproductive and screening behaviour. Their narratives of SCD transcend the individual to express social, societal and cultural realities. Health care professionals and policy-makers should communicate clearly to ensure understanding, and recognize and engage with their patients' sociocultural context.

  9. Expression of soluble CD83 in plasma from early-stage rheumatoid arthritis patients is not modified by anti-TNF-α therapy

    DEFF Research Database (Denmark)

    Kristensen, Anne Mette Fisker; Stengaard-Pedersen, Kristian; Hetland, Merete Lund

    2017-01-01

    Rheumatoid arthritis (RA) is an autoimmune disease which may lead to severe disabilities due to structural joint damage and extraarticular manifestations The dendritic cell marker CD83 belongs to the immunoglobulin superfamily and has previously been associated with autoimmune diseases. In RA...... the levels of soluble CD83 (sCD83) are elevated in synovial fluid, however little is known about CD83 expression and regulation in RA. Therefore, we studied how CD83 is expressed in RA and further evaluated the effect of anti-TNF-α therapy hereon. Early RA patients were randomized to conventional disease...... modifying anti-rheumatic drugs with or without additional anti-TNF-α therapy. Rheumatoid arthritis patients had increased levels of sCD83 in plasma compared with healthy volunteers. The increase in sCD83 plasma levels were unaffected by anti-TNF-α therapy. In chronic RA patients the levels of sCD83 were...

  10. Pneumococcal vaccination rates in children with sickle cell disease.

    Science.gov (United States)

    Nero, Alecia C; Akuete, Kwei; Leasure Reeves, Sarah; Dombkowski, Kevin J

    2014-01-01

    Sickle cell disease (SCD) confers an increased risk of invasive pneumococcal disease, especially among young children. Pneumococcal vaccination decreases this risk, but the completion rate of age-appropriate vaccinations is not well defined in SCD. The goal of this study was to assess whether pneumococcal vaccines are administered to high-risk children with SCD according to recommended vaccine schedules. A case-control design was used to conduct this study. Administrative data were obtained on Michigan Medicaid or Children's Special Health Care Services programs enrollees. In addition, Michigan Newborn Screening and Michigan Care Improvement Registry records were used to confirm diagnosis and vaccine administration. This study compared pneumococcal vaccination rates in a cohort of 179 children with SCD with 537 age-matched non-SCD controls (1:3) enrolled in the Michigan Medicaid Program between 2001 and 2008. Study subjects were born in the state of Michigan between 2001 and 2005. The main outcome measure was the proportion of children defined as up to date for pneumococcal vaccines at defined milestone ages. Children with SCD had significantly higher vaccination rates than controls, yet these values were much lower than state and national immunization survey rates. Barriers to completing age-appropriate recommended pneumococcal immunizations should be identified and addressed to further reduce invasive pneumococcal disease in this high-risk patient population.

  11. Cranial involvement in sickle cell disease

    International Nuclear Information System (INIS)

    Alkan, Ozlem; Kizilkilic, Ebru; Kizilkilic, Osman; Yildirim, Tulin; Karaca, Sibel; Yeral, Mahmut; Kasar, Mutlu; Ozdogu, Hakan

    2010-01-01

    Purpose: To evaluate cranial findings in patients with neurologically symptomatic sickle cell disease (SCD). Materials and methods: We studied 50 consecutive patients with SCD and neurologic symptoms. All patients underwent brain MR examinations: all 50 underwent classic MR imaging; 42, diffusion-weighted MR imaging; 10, MR angiography; four, MR venography; and three patients, digital subtraction angiography. Results: Of the 50 SCD patients, 19 (38%) had normal MR findings, and 31 (62%) showed abnormalities on brain MR images. Of the 50 patients, 16 (32%) had ischemic lesions; two (4%), subarachnoid hemorrhage; one (2%), moya-moya pattern; one (2%), posterior reversible encephalopathy; one (2%), dural venous sinus thrombosis; 12 (24%), low marrow signal intensity and thickness of the diploic space; 12 (24%), cerebral atrophy; and two (4%), osteomyelitis. Twenty-seven patients (54%) presented with headache, which was the most common clinical finding. Conclusions: The cranial involvement is one of the most devastating complications of SCD. Early and accurate diagnosis is important in the management of cranial complications of SCD.

  12. Cranial involvement in sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Alkan, Ozlem, E-mail: yalinozlem@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Ebru, E-mail: ebru90@yahoo.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Osman, E-mail: ebos90@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yildirim, Tulin, E-mail: ytulin@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Karaca, Sibel, E-mail: sibelkaraca@hotmail.com [Department of Neurology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yeral, Mahmut, E-mail: mahmutyeral@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kasar, Mutlu, E-mail: mutlukasar@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Ozdogu, Hakan, E-mail: hakanozdogu@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey)

    2010-11-15

    Purpose: To evaluate cranial findings in patients with neurologically symptomatic sickle cell disease (SCD). Materials and methods: We studied 50 consecutive patients with SCD and neurologic symptoms. All patients underwent brain MR examinations: all 50 underwent classic MR imaging; 42, diffusion-weighted MR imaging; 10, MR angiography; four, MR venography; and three patients, digital subtraction angiography. Results: Of the 50 SCD patients, 19 (38%) had normal MR findings, and 31 (62%) showed abnormalities on brain MR images. Of the 50 patients, 16 (32%) had ischemic lesions; two (4%), subarachnoid hemorrhage; one (2%), moya-moya pattern; one (2%), posterior reversible encephalopathy; one (2%), dural venous sinus thrombosis; 12 (24%), low marrow signal intensity and thickness of the diploic space; 12 (24%), cerebral atrophy; and two (4%), osteomyelitis. Twenty-seven patients (54%) presented with headache, which was the most common clinical finding. Conclusions: The cranial involvement is one of the most devastating complications of SCD. Early and accurate diagnosis is important in the management of cranial complications of SCD.

  13. Differences in pain management between hematologists and hospitalists caring for patients with sickle cell disease hospitalized for vasoocclusive crisis.

    Science.gov (United States)

    Shah, Nirmish; Rollins, Margo; Landi, Daniel; Shah, Radhika; Bae, Jonathan; De Castro, Laura M

    2014-03-01

    Sickle cell disease (SCD) is a chronic disease characterized by multiple vaso-occlusive complications and is increasingly cared for by hospitalists. The purpose of this study is to examine differences in pain management between hematologists and hospitalists. We performed a single-institution, retrospective review of pain management patterns and outcomes in adult SCD patients hospitalized for vaso-occlusive crisis. Over 26 months, we found a total of 298 patients (120 cared for by the hematologists and 178 by hospitalists), with a mean age of 32 (range 19-58). Patients cared for by hospitalists had a lower total number of hours on a patient controlled analgesia (PCA) device (171 vs. 212 hours, P=0.11). Hospitalists also were significantly more likely to utilize demand only PCA (42% vs. 23%, P=0.002) and had a significantly lower rate of using both continuous and demand PCA (54% vs. 67%, P=0.04). In addition, patients cared for by hospitalists had a significantly shorter hospitalization (8.4 days) compared to hematologists (10 days, P=0.04) with a non-significant difference in 7 and 30 day readmission rates (7.2% vs. 6.7% and 40% vs. 35% respectively). We found patients cared for by hospitalists more frequently utilized home oral pain medication during admission, had shorter lengths of hospitalization, and did not have a significant increase in readmission rates.

  14. Fever in children with sickle cell disease: are all fevers equal?

    Science.gov (United States)

    Shihabuddin, Bashar Sami; Scarfi, Catherine Ann

    2014-10-01

    Sepsis is the most common cause of mortality in sickle cell disease (SCD). Empiric antibiotic administration after obtaining blood cultures in febrile children with SCD has been a standard practice parameter. Our primary objective was to calculate the rate of bacteremia in febrile pediatric patients with SCD. Our secondary objective was to establish whether vital signs or diagnostics predict bacteremia in these patients. We conducted a retrospective chart review of patients with SCD who presented to an urban pediatric emergency department in Newark, NJ between January 1, 2001 and June 30, 2011 with the chief complaint of fever. Patients between the ages of 0 and 20 years with SCD who presented with the chief complaint of fever and who had a blood culture performed were included. Descriptive data, visit-specific data, and diagnostic data were collected. Charts of 307 patients were included. Six patients had a positive blood culture, one of which was considered a true pathogen (Streptococcus pneumoniae) (0.33%; 95% confidence interval 0.06%-1.86%). There was no statistical significance between the means of visit-specific and diagnostic data of patients with positive blood cultures and those with negative blood cultures. The incidence of bacteremia in febrile children with SCD presenting to the emergency department is low. Close follow-up within 24 hours and delayed antibiotic administration can be a plausible alternative treatment option in this population. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. The impact of depressive symptoms on health-related quality of life in patients with subjective cognitive decline, mild cognitive impairment, and Alzheimer's disease.

    Science.gov (United States)

    Pusswald, G; Moser, D; Pflüger, M; Gleiss, A; Auff, E; Stögmann, E; Dal-Bianco, P; Lehrner, J

    2016-12-01

    Health-related quality of life (HRQOL) is an important issue in the context of dementia care. The purpose of this study was to investigate the association between HRQOL and depressive symptoms in patients with subjective cognitive decline (SCD) and subtypes of mild cognitive impairment (MCI) and Alzheimer´s disease (AD). In this cross-sectional, observational study, a control group and four experimental groups (SCD, non-amnestic MCI, amnesticMCI, AD) were compared. Neuropsychological measurers (NTBV) and psychological questionnaires were used for data collection. The control group scored higher than patients with SCD, naMCI, aMCI, or AD for the Mental Health Component Score (MHCS) of the Short Form of the Health Survey (SF-36). The Physical Health Component Score (PHCS) of the SF-36 differed only between some groups. Furthermore, cognitive variables were more strongly associated with the physical aspects of HRQOL, whereas depressive symptoms were more strongly related with the mental aspects of HRQOL. HRQOL and depressive symptoms are closely related in patients with cognitive impairments. Therefore, it is of great importance to assess patients with subjective impairment carefully in terms of depressive symptoms.

  16. Relationship of the Content of Systemic and Endobronchial Soluble Molecules of CD25, CD38, CD8, and HLA-I-CD8 and Lung Function Parameters in COPD Patients

    Directory of Open Access Journals (Sweden)

    Nailya Kubysheva

    2017-01-01

    Full Text Available The definition of new markers of local and systemic inflammation of chronic obstructive pulmonary disease (COPD is one of the priority directions in the study of pathogenesis and diagnostic methods improvement for this disease. We investigated 91 patients with COPD and 21 healthy nonsmokers. The levels of soluble CD25, CD38, CD8, and HLA-I-CD8 molecules in the blood serum and exhaled breath condensate (EBC in moderate-to-severe COPD patients during exacerbation and stable phase were studied. An unidirectional change in the content of sCD25, sCD38, and sCD8 molecules with increasing severity of COPD was detected. The correlations between the parameters of lung function and sCD8, sCD25, and sHLA-I-CD8 levels in the blood serum and EBC were discovered in patients with severe COPD. The findings suggest a pathogenetic role of the investigated soluble molecules of the COPD development and allow considering the content of sCD8, sCD25, and sHLA-I-CD8 molecules as additional novel systemic and endobronchial markers of the progression of chronic inflammation of this disease.

  17. Soluble CD36 (sCD36) clusters with markers of insulin resistance, and high sCD36 is associated with increased type 2 diabetes risk

    DEFF Research Database (Denmark)

    Handberg, A; Norberg, M; Stenlund, H

    2010-01-01

    Soluble CD36 (sCD36) may be an early marker of insulin resistance and atherosclerosis. The objective of this prospective study was to evaluate sCD36 as a predictor of type 2 diabetes and to study its relationship with components of the metabolic syndrome (MetSy). DESIGN, SETTING, PARTICIPANTS......, AND OUTCOME MEASURES: We conducted a case-referent study nested within a population-based health survey. Baseline variables included sCD36, body mass index, blood pressure, blood lipids, adipokines, inflammatory markers, and beta-cell function. A total of 173 initially nondiabetic cohort members who developed...

  18. Chronic complications and quality of life of patients living with sickle cell disease and receiving care in three hospitals in Cameroon: a cross-sectional study.

    Science.gov (United States)

    Andong, Anne M; Ngouadjeu, Eveline D T; Bekolo, Cavin E; Verla, Vincent S; Nebongo, Daniel; Mboue-Djieka, Yannick; Choukem, Simeon-Pierre

    2017-01-01

    Sickle Cell Disease (SCD) is associated with chronic multisystem complications that significantly influence the quality of life (QOL) of patients early in their life. Although sub-Saharan Africa bears 75% of the global burden of SCD, there is a paucity of data on these complications and their effects on the QOL. We aimed to record these chronic complications, to estimate the QOL, and to identify the corresponding risk factors in patients with SCD receiving care in three hospitals in Cameroon. In this cross-sectional study, a questionnaire was used to collect data from consecutive consenting patients. Information recorded included data on the yearly frequency of painful crisis, the types of SCD, and the occurrence of chronic complications. A 36-Item Short Form (SF-36) standard questionnaire that examines the level of physical and mental well-being, was administered to all eligible participants. Data were analyzed with STATA® software. Of 175 participants included, 93 (53.1%) were female and 111 (aged ≥14 years) were eligible for QOL assessment. The median (interquartile range, IQR) age at diagnosis was 4.0 (2.0-8.0) years and the median (IQR) number of yearly painful crisis was 3.0 (1.0-7.0). The most frequent chronic complications reported were: nocturnal enuresis, chronic leg ulcers, osteomyelitis and priapism (30.9%, 24.6%, 19.4%, and 18.3% respectively). The prevalence of stroke and avascular necrosis of the hip were 8.0% and 13.1% respectively. The median (IQR) physical and mental scores were 47.3 (43.9-58.5) and 41.0 (38.8-44.6) respectively. Age and chronic complications such as stroke and avascular necrosis were independently associated with poor QOL. In this population of patients living with SCD, chronic complications are frequent and their QOL is consequently poor. Our results highlight the need for national guidelines for SCD control, which should include new-born screening programs and strategies to prevent chronic complications.

  19. Clinical Significance of Serum Soluble CD Molecules to Assess Disease Activity in Vitiligo.

    Science.gov (United States)

    Speeckaert, Reinhart; Lambert, Jo; van Geel, Nanja

    2016-11-01

    It is difficult to determine disease activity in vitiligo owing to the absence of inflammatory signs, such as erythema or scaling. A biomarker that could confirm active disease and indicate likely future disease progression would therefore be of considerable value. To investigate whether soluble CD27 (sCD27), sCD25, or sCD40L could be valuable biomarkers to determine disease activity in vitiligo and indicate likely future progression. A combined cross-sectional and prospective study was conducted at the department of dermatology at Ghent University Hospital between February 24, 2012, and December 12, 2015. Ninety-three patients with vitiligo were enrolled, including 83 individuals with nonsegmental vitiligo and 10 with segmental vitiligo. Blood sampling was performed, and sCD25, sCD27, and sCD40L were measured in serum. The associations between sCD levels, disease activity, and future progression were investigated. Of the 93 patients included in the study, 51 were women (55%); median (interquartile range) age was 36.5 (26.0-49.8) years. Both sCD27 (21.5 ng/mL [16.1-30.0 ng/mL] vs 18.4 ng/mL [12.5-22.1 ng/mL]; P = .006) and sCD25 (2.6 ng/mL [2.1-3.4 ng/mL] vs 2.2 ng/mL [1.7-2.4 ng/mL]; P = .002) levels were associated with active disease. Moreover, a statistically significant link with disease progression after 3 to 6 months was found for sCD27 (21.7 [17.0-29.1] vs 16.6 [13.5-23.7]; P = .02) but not for sCD25 (2.8 ng/mL [2.2-3.4 ng/mL] vs 2.3 [1.9-2.8 ng/mL]; P = .053). Further in vitro experiments showed a correlation between sCD25 and interferon γ (r = 0.562, P = .005), interleukin 10 (r = 0.453, P = .03), and sCD27 secretion (r = 0.549, P = .007). No associations were found for sCD40L levels. This study demonstrates increased levels of sCD27 and sCD25 in patients with active vitiligo. Moreover, these results provide the first evidence that these markers have a capacity to indicate the probability of future disease

  20. Situational analysis of sickle cell disease in Gujarat, India

    Directory of Open Access Journals (Sweden)

    Deepak Saxena

    2017-01-01

    Full Text Available Background: Sickle cell disease (SCD is a major public health concern in tribal community not only in Gujarat but also globally. Gujarat, a western state of India, has 89.12 lakh tribal populations and is expected to have at least 9,00,000 sickle cell trait and 70,000 SCD patients. The aim of the present review is to document the prevalence of SCD in various communities and various screening methods adapted. Methodology: An in-depth literature review was carried out using available search engines such as Cochrane Library, PubMed, Scopus etc. and published articles, and government reports/policy documents with reference to SCD were gathered. Results: A total of 17 original research articles and 2 policy/program documents are included in this review. The review suggests a prevalence of 0.6%–35% studies conducted among medical students, tribal schoolchildren, and tribal adolescents, with diverse screening methodologies. Conclusion: A diverse prevalence is observed in this review. Various screening methods such as dithionite turbidity test/hemoglobin/high-performance liquid chromatography methods were used to estimate the prevalence, citing the need for standardization. It was also found that not only tribal population, but also nontribal population have the risk of getting SCD that needs to be further investigated properly. Qualitative studies with SCD patients are required to understand the quality of life and morbidity pattern.

  1. Interim assessment of liver damage in patients with sickle cell disease using new non-invasive techniques

    Science.gov (United States)

    Drasar, Emma; Fitzpatrick, Emer; Gardner, Kate; Awogbade, Moji; Dhawan, Anil; Bomford, Adrian; Suddle, Abid; Thein, Swee Lay

    2016-01-01

    We explored transient elastography (TE) and enhanced liver fibrosis (ELF™) score with standard markers of liver function to assess liver damage in 193 well patients with sickle cell disease (SCD). Patients with HbSS or HbSβ0 thalassaemia (sickle cell anaemia, SCA; N=134), had significantly higher TE results and ELF scores than those with HbSC (N=49) disease (TE, 6.8 vs 5.3, p<0.0001 and ELF, 9.2 vs 8.6 p <0.0001). In SCA patients, TE and ELF correlated significantly with age and all serum liver function tests (LFTs). Additionally, (weak) positive correlation was found with lactate dehydrogenase (TE: r = 0.24, p=0.004; ELF: r = 0.26 p=0.002), and (weak) negative correlation with haemoglobin (TE: r= −0.25, p=0.002; ELF: r = −0.25 p=0.004). In HbSC patients, correlations were weaker or not significant between TE or ELF, and serum LFTs. All markers of iron loading correlated with TE values when corrected for sickle genotype (serum ferritin, β = 0.25, p <0.0001, total blood transfusion units, β = 0.25, p <0.0001 and LIC β = 0.32, p=0.046). The exploratory study suggests that, while TE could have a role, the utility of ELF score in monitoring liver damage in SCD, needs further longitudinal studies. PMID:27984631

  2. Role of hydroxycarbamide in prevention of complications in patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    NM Wiles

    2009-09-01

    Full Text Available NM Wiles, J HowardDepartment of Haematology, St Thomas’ Hospital, Westminster, Bridge Road, London, SE1 7EH, UKAbstract: Sickle cell disease (SCD is a genetically inherited condition caused by a point mutation in the beta globin gene. This results in the production of the abnormal hemoglobin, sickle hemoglobin (HbS. Hydroxycarbamide, is an antimetabolite/cytotoxic which works by inhibiting ribonucleotide reductase, blocking the synthesis of DNA and arresting cells in the S phase. In sickle cell anemia, it promotes fetal hemoglobin (HbF synthesis, improves red cell hydration, decreases neutrophil and platelet count, modifies red cell endothelial cell interactions and acts as a nitric oxide donor. Trials have shown the clinical benefit of hydroxycarbamide in a subpopulation of adult patients with SCD, with a 44% reduction in the median annual rate of painful crises, a decrease in the incidence of acute chest syndrome and an estimated 40% reduction in overall mortality over a 9-year observational period. Its use in pediatrics has also been well established; trials have shown it is well tolerated and does not impair growth or development. In addition it decreases the number and duration of hospital attendences. A number of emerging uses of hydroxycarbamide currently are being investigated, such as stroke prevention.Keywords: sickle cell anemia, hydroxycarbamide, hydroxyurea, maximum tolerated dose, vaso-occlusive crisis

  3. Seronegative coeliac disease: clearing the diagnostic dilemma.

    Science.gov (United States)

    Schiepatti, Annalisa; Sanders, David S; Biagi, Federico

    2018-05-01

    Seronegative coeliac disease is a poorly defined form of coeliac disease that poses an important challenge to clinicians particularly with regards to the differential diagnosis. This is probably because of lack of a consensus on its definition and incorrect use of specific coeliac serology. Seronegative coeliac disease (SCD) is uncommon and epidemiological data are scarce and contrasting. Therefore, the aim of this review is to provide a critical summary of the most recent work on this topic and a definition of SCD. SCD is rare among coeliac patients but conversely SCD remains one of the most common causes of seronegative villous atrophy. The diagnostic workup of seronegative villous atrophy (SNVA) must ensure exclusion of other enteropathies before starting patients on a lifelong gluten-free diet. This is crucial in order to ensure that patients are not given the wrong diagnosis, which in turn can have implications for their inappropriate treatment and long-term morbidity. Finally, there is some data to suggest that seronegative enteropathies have a higher mortality than conventional coeliac disease. Seronegative coeliac disease is a rare condition that accounts for a very small percentage of cases in the large population of coeliac patients. Strict criteria for the diagnosis of this condition need to be fulfilled and prompt identification of these patients is crucial in order to ensure the appropriate intervention on a case-by-case basis.

  4. Persistence and compliance of deferoxamine versus deferasirox in Medicaid patients with sickle-cell disease.

    Science.gov (United States)

    Jordan, L B; Vekeman, F; Sengupta, A; Corral, M; Guo, A; Duh, M S

    2012-04-01

    Patients with sickle-cell disease (SCD) receiving chronic transfusions of red blood cells are at risk of developing serious adverse effects. Iron chelation therapy (ICT) helps eliminate iron overload by binding with plasma iron to form a non-toxic conjugate that can be safely excreted from the body. Two iron chelating agents are currently available in the United States: Deferoxamine (DFO) is an injectable formulation, and deferasirox (Exjade(®) ) is an oral suspension. This study compared the frequency of hospitalizations, persistence and compliance of patients with SCD from Medicaid programmes treated with DFO vs. deferasirox. Health care claims from Medicaid Florida (1998-2007), Missouri (1993-2008) and New Jersey (1996-2008) were analysed. Patients with continuous enrolment for ≥6months prior to ICT initiation and ≥1 SCD diagnosis were included in the analysis. Patients were divided into four cohorts: patients treated with DFO (any-DFO group) and patients treated with deferasirox (any-deferasirox group); the latter was further divided into patients initiated on DFO and then switched to deferasirox (deferasirox switchers), and patients treated with deferasirox-only (deferasirox-only group). Frequency of hospitalization for crisis conditions related to SCD as well as length of stay pre- and post-ICT treatment initiation were assessed. Persistence was defined as time to drug discontinuation with ≥1 Rx gap, using Kaplan-Meier approach. Compliance was estimated using a medication possession ratio (MPR) based on the drug exposure approach. Adjusted analyses of persistence and compliance were also conducted. A total of 217 (mean age: 19·4years, 39·2 men), 275 (20·1years, 41·5% men), 105 (19·4years, 42·9% men) and 166 (20·4years, 41·6% men) patients were included in the any-DFO, any-deferasirox, deferasirox switchers and deferasirox-only groups, respectively. After ICT initiation, the any-deferasirox and deferasirox-only groups experienced a statistically

  5. Pathophysiology and treatment of pulmonary hypertension in sickle cell disease

    Science.gov (United States)

    Castro, Oswaldo L.; Machado, Roberto F.

    2016-01-01

    Pulmonary hypertension affects ∼10% of adult patients with sickle cell disease (SCD), particularly those with the homozygous genotype. An increase in pulmonary artery systolic pressure, estimated noninvasively by echocardiography, helps identify SCD patients at risk for pulmonary hypertension, but definitive diagnosis requires right-heart catheterization. About half of SCD-related pulmonary hypertension patients have precapillary pulmonary hypertension with potential etiologies of (1) a nitric oxide deficiency state and vasculopathy consequent to intravascular hemolysis, (2) chronic pulmonary thromboembolism, or (3) upregulated hypoxic responses secondary to anemia, low O2 saturation, and microvascular obstruction. The remainder have postcapillary pulmonary hypertension secondary to left ventricular dysfunction. Although the pulmonary artery pressure in SCD patients with pulmonary hypertension is only moderately elevated, they have a markedly higher risk of death than patients without pulmonary hypertension. Guidelines for diagnosis and management of SCD-related pulmonary hypertension were published recently by the American Thoracic Society. Management of adults with sickle-related pulmonary hypertension is based on anticoagulation for those with thromboembolism; oxygen therapy for those with low oxygen saturation; treatment of left ventricular failure in those with postcapillary pulmonary hypertension; and hydroxyurea or transfusions to raise the hemoglobin concentration, reduce hemolysis, and prevent vaso-occlusive events that cause additional increases in pulmonary pressure. Randomized trials have not identified drugs to lower pulmonary pressure in SCD patients with precapillary pulmonary hypertension. Patients with hemodynamics of pulmonary arterial hypertension should be referred to specialized centers and considered for treatments known to be effective in other forms of pulmonary arterial hypertension. There have been reports that some of these treatments

  6. Increased iron export by ferroportin induces restriction of HIV-1 infection in sickle cell disease

    Science.gov (United States)

    Kumari, Namita; Ammosova, Tatiana; Diaz, Sharmin; Lin, Xionghao; Niu, Xiaomei; Ivanov, Andrey; Jerebtsova, Marina; Dhawan, Subhash; Oneal, Patricia

    2016-01-01

    The low incidence of HIV-1 infection in patients with sickle cell disease (SCD) and inhibition of HIV-1 replication in vitro under the conditions of low intracellular iron or heme treatment suggests a potential restriction of HIV-1 infection in SCD. We investigated HIV-1 ex vivo infection of SCD peripheral blood mononuclear cells (PBMCs) and found that HIV-1 replication was inhibited at the level of reverse transcription (RT) and transcription. We observed increased expression of heme and iron-regulated genes, previously shown to inhibit HIV-1, including ferroportin, IKBα, HO-1, p21, and SAM domain and HD domain-containing protein 1 (SAMHD1). HIV-1 inhibition was less pronounced in hepcidin-treated SCD PBMCs and more pronounced in the iron or iron chelators treated, suggesting a key role of iron metabolism. In SCD PBMCs, labile iron levels were reduced and protein levels of ferroportin, HIF-1α, IKBα, and HO-1 were increased. Hemin treatment induced ferroportin expression and inhibited HIV-1 in THP-1 cells, mimicking the HIV-1 inhibition in SCD PBMCs, especially as hepcidin similarly prevented HIV-1 inhibition. In THP-1 cells with knocked down ferroportin, IKBα, or HO-1 genes but not HIF-1α or p21, HIV-1 was not inhibited by hemin. Activity of SAMHD1-regulatory CDK2 was decreased, and SAMHD1 phosphorylation was reduced in SCD PBMCs and hemin-treated THP-1 cells, suggesting SAMHD1-mediated HIV-1 restriction in SCD. Our findings point to ferroportin as a trigger of HIV-1 restriction in SCD settings, linking reduced intracellular iron levels to the inhibition of CDK2 activity, reduction of SAMHD1 phosphorylation, increased IKBα expression, and inhibition of HIV-1 RT and transcription. PMID:28203649

  7. Empowering Patients with Chronic Diseases

    DEFF Research Database (Denmark)

    Bestek, Mate; Meglič, Matic; Kurent, Blaž

    2012-01-01

    Background: Chronic diseases require most of the resources in todays healthcare systems. Healthcare systems, as such, are thus not sustainable in the long term. Solutions to this problem are needed and a lot of research is focused on finding new approaches to more sustainable healthcare systems...... himself to become empowered. The patient needs to see data about his health in order to start thinking about new decisions in life that can lead to change in his behaviour. Objective: We have approached the problem of empowering patients with chronic diseases from a biological, psychological, sociological....... We want to develop extensible technology to support even more new interventions for different chronic diseases. We want the technology to enable semantic interoperability with other systems. Methods: We have collaborated with doctors in order to model the care plans for different chronic diseases...

  8. Granulomas at initial diagnosis of Crohn's disease signal a poor ...

    African Journals Online (AJOL)

    CD patients (n=101) with uncomplicated non-stricturing, non-penetrating disease at diagnosis, and with follow-up >5 years, were retrospectively analysed using a predefined definition of severe CD (SCD) over the disease course. Clinical, demographic, laboratory and histological factors at diagnosis associated with SCD ...

  9. Perceptions about Sickle Cell Disease and its Prevention among ...

    African Journals Online (AJOL)

    SCD) patients per country in the world. Most of the studies that were carried out in Nigeria on awareness of sickle cell disease come from the southern part of the country. There is variation in the incidence of the disease within Nigeria with a ...

  10. SCD5 restored expression favors differentiation and epithelial-mesenchymal reversion in advanced melanoma.

    Science.gov (United States)

    Puglisi, Rossella; Bellenghi, Maria; Pontecorvi, Giada; Gulino, Alessandro; Petrini, Marina; Felicetti, Federica; Bottero, Lisabianca; Mattia, Gianfranco; Carè, Alessandra

    2018-01-26

    Our previous data supported a role for the Stearoyl-CoA desaturase (SCD5) in protection against malignancy, whereby it appears to functionally modify tumor stroma impairing tumor spread. SCD5 is significantly expressed in primary melanoma, but becomes barely detectable at tumor advanced stages. Looking for the regulatory mechanisms underlying SCD5 reduced expression during melanoma progression, we demonstrated a significantly lower stability of SCD5 protein as well as the direct targeting of SCD5 mRNA by the oncogenic miR-221&222 in metastatic cell lines. Moreover, our results indicated the existence of a negative feedback loop between SCD5 and miR-221&222, in good agreement with their opposite functions. Also, we showed how SCD5 re-expression and the direct supplementation of its main product oleic acid (OA) can drive advanced melanoma cell lines toward differentiation and reversion of the epithelial-mesenchymal (EMT)-like process, eventually inducing a less malignant phenotype. Indeed, SCD5 re-established the sensitivity to all-trans retinoic acid in A375M metastatic melanoma, associated with increased levels of Tyrosinase, melanin production and reduced proliferation. As evidenced by the correct modulation of some key transcription factors, SCD5 managed by favoring a partial mesenchymal-to-epithelial (MET) transition in in vitro studies. Interestingly, a more complete MET, including E-cadherin re-expression correctly localized at cell membranes, was obtained in in vivo xenograft models, thus indicating the requirement of direct contacts between tumor cells and the surrounding microenvironment as well as the presence of some essential factors for SCD5 complete function.

  11. Using Quality Improvement Methods to Implement an Electronic Medical Record (EMR) Supported Individualized Home Pain Management Plan for Children with Sickle Cell Disease.

    Science.gov (United States)

    Crosby, Lori E; Simmons, Kenya; Kaiser, Peggy; Davis, Blair; Boyd, Patricia; Eichhorn, Tiffany; Mahaney, Tracy; Joffe, Naomi; Morgan, Darice; Schibler, Kathy; Anderson, Viia; Quinn, Charles T; Kalinyak, Karen A

    2014-05-01

    Using quality improvement methodology, our goal was to develop and implement individualized home pain management plans (HPMP) that included pharmacologic as well as non-pharmacologic strategies for children with sickle cell disease (SCD). We hypothesized that successfully implemented HPMPs would have an impact on Emergency Department (ED) use, decreasing ED visits for uncomplicated SCD pain episodes. A multidisciplinary quality improvement team developed a questionnaire to assess the frequency, location and severity of a patient's pain during a routine, comprehensive visit in order to help the patient and family develop an effective pain management strategy using both pharmacologic and non-pharmacologic actions. Using plan do study act cycles (PDSAs), this team was able to build this process into the daily workflow for all SCD patients age 5 years to 21 years of age. Patients with comprehensive visits scheduled from January 2012 to May 2013 were included (N=188) in the intervention. By May of 2013, 88% of eligible patients had an individualized HPMP in place. There was a concomitant reduction in the percentage of SCD patients seen in the ED for uncomplicated SCD pain (6.9% vs. 1.1%). Using quality improvement methods, an individualized HPMP intervention was incorporated successfully into the daily workflow of a busy outpatient SCD clinic. This intervention has the potential to improve patient outcomes by decreasing avoidable ED visits as well as reducing overall healthcare costs.

  12. Apathy in Parkinson's disease patients

    OpenAIRE

    M. R. Nodel

    2014-01-01

    pathy in Parkinson's disease (PD) patients is one of the least studied manifestations of a broad range of neuropsychic disorders. According to numerous researchers, the rate of apathy in PD patients is 17–80%. The structural and neurochemical changes associated with PD have been considered to be the leading pathophysiological factors of apathy. The possible general pathophysiological mechanisms are discussed for apathy and hypokinesia, depression, executive (frontal) cognitive functions, and ...

  13. Changes in Soluble CD18 in Murine Autoimmune Arthritis and Rheumatoid Arthritis Reflect Disease Establishment and Treatment Response.

    Directory of Open Access Journals (Sweden)

    Tue Wenzel Kragstrup

    Full Text Available In rheumatoid arthritis (RA immune activation and presence of autoantibodies may precede clinical onset of disease, and joint destruction can progress despite remission. However, the underlying temporal changes of such immune system abnormalities in the inflammatory response during treat-to-target strategies remain poorly understood. We have previously reported low levels of the soluble form of CD18 (sCD18 in plasma from patients with chronic RA and spondyloarthritis. Here, we study the changes of sCD18 before and during treatment of early RA and following arthritis induction in murine models of rheumatoid arthritis.The level of sCD18 was analyzed with a time-resolved immunoflourometric assay in 1 plasma from early treatment naïve RA patients during a treat-to-target strategy (the OPERA cohort, 2 plasma from chronic RA patients, 3 serum from SKG and CIA mice following arthritis induction, and 4 supernatants from synovial fluid mononuclear cells (SFMCs and peripheral blood mononuclear cells (PBMCs from 6 RA patients cultured with TNFα or adalimumab.Plasma levels of sCD18 were decreased in chronic RA patients compared with early RA patients and in early RA patients compared with healthy controls. After 12 months of treatment the levels in early RA patients were similar to healthy controls. This normalization of plasma sCD18 levels was more pronounced in patients with very early disease who achieved an early ACR response. Plasma sCD18 levels were associated with radiographic progression. Correspondingly, the serum level of sCD18 was decreased in SKG mice 6 weeks after arthritis induction compared with healthy littermates. The sCD18 levels in both SKG and CIA mice exhibited a biphasic course after arthritis induction with an initial increase above baseline followed by a decline. Shedding of CD18 from RA SFMC and RA PBMC cultures was increased by TNFα and decreased by adalimumab.The plasma sCD18 levels were altered in patients with RA, in mice

  14. Changes in Soluble CD18 in Murine Autoimmune Arthritis and Rheumatoid Arthritis Reflect Disease Establishment and Treatment Response.

    Science.gov (United States)

    Kragstrup, Tue Wenzel; Jalilian, Babak; Keller, Kresten Krarup; Zhang, Xianwei; Laustsen, Julie Kristine; Stengaard-Pedersen, Kristian; Hetland, Merete Lund; Hørslev-Petersen, Kim; Junker, Peter; Østergaard, Mikkel; Hauge, Ellen-Margrethe; Hvid, Malene; Vorup-Jensen, Thomas; Deleuran, Bent

    2016-01-01

    In rheumatoid arthritis (RA) immune activation and presence of autoantibodies may precede clinical onset of disease, and joint destruction can progress despite remission. However, the underlying temporal changes of such immune system abnormalities in the inflammatory response during treat-to-target strategies remain poorly understood. We have previously reported low levels of the soluble form of CD18 (sCD18) in plasma from patients with chronic RA and spondyloarthritis. Here, we study the changes of sCD18 before and during treatment of early RA and following arthritis induction in murine models of rheumatoid arthritis. The level of sCD18 was analyzed with a time-resolved immunoflourometric assay in 1) plasma from early treatment naïve RA patients during a treat-to-target strategy (the OPERA cohort), 2) plasma from chronic RA patients, 3) serum from SKG and CIA mice following arthritis induction, and 4) supernatants from synovial fluid mononuclear cells (SFMCs) and peripheral blood mononuclear cells (PBMCs) from 6 RA patients cultured with TNFα or adalimumab. Plasma levels of sCD18 were decreased in chronic RA patients compared with early RA patients and in early RA patients compared with healthy controls. After 12 months of treatment the levels in early RA patients were similar to healthy controls. This normalization of plasma sCD18 levels was more pronounced in patients with very early disease who achieved an early ACR response. Plasma sCD18 levels were associated with radiographic progression. Correspondingly, the serum level of sCD18 was decreased in SKG mice 6 weeks after arthritis induction compared with healthy littermates. The sCD18 levels in both SKG and CIA mice exhibited a biphasic course after arthritis induction with an initial increase above baseline followed by a decline. Shedding of CD18 from RA SFMC and RA PBMC cultures was increased by TNFα and decreased by adalimumab. The plasma sCD18 levels were altered in patients with RA, in mice with

  15. First Ischemic Stroke in Sickle-Cell Disease: Are There Any Adult Specificities?

    Science.gov (United States)

    Calvet, David; Bernaudin, Françoise; Gueguen, Antoine; Hosseini, Hassan; Habibi, Anoosha; Galactéros, Frédéric; Bartolucci, Pablo

    2015-08-01

    There is little evidence about characteristics of ischemic stroke (IS) occurring in adults with sickle-cell disease (SCD). The objective of this study was to assess characteristics of first-ever IS in adults with SCD and to assess whether they differ from those occurring in child patients with SCD. Adult and child individuals with SCD who had a first-ever IS were identified from cohorts of patients followed up in an adult and a child sickle cell referral center. Mechanisms of IS were determined by consensus meeting from all available explorations using the following predefined classification: Vasculopathy, cardioembolism, other defined cause, and undetermined. Treatment and stroke recurrences were recorded from prospective follow-up performed in the referral centers. Twenty-nine adults and 26 children had a first-ever IS; mean age (SD) was 7.1 (4.3) and 32.3 (11.6), respectively. With regard to IS mechanism, vasculopathy was less often the cause of IS in adults (12/29, 41%) than in children (24/26, 92%; Pstroke (23.1% [7.0-39.2] at 5 years) compared with children (1 recurrence only; P log rank=0.046) despite exchange-blood transfusion in patients with vasculopathy. First-ever IS occurring in adults with SCD has specificities that justify further studies conducted in adults with SCD to improve understanding and management. © 2015 American Heart Association, Inc.

  16. Prospective radiological study concerning a series of patients suffering from conductive or mixed hearing loss due to superior semicircular canal dehiscence.

    Science.gov (United States)

    Martin, Christian; Chahine, Pierre; Veyret, Charles; Richard, Céline; Prades, Jean Michel; Pouget, Jean François

    2009-08-01

    The aim of this study is to appreciate the incidence of patients with isolated conductive hearing loss with normal drum due to superior semicircular canal dehiscence (SCD). It is a prospective radiological study. Two hundred and seventy-two patients with a normal drum suffering from isolated unilateral or bilateral conductive or mixed hearing loss were included in a prospective radiological study. A high resolution computerized tomography (HRCT) was performed in all the patients. Those who were found to have a unilateral or bilateral SCD underwent further etiological, clinical, audiologic evaluation. Ten patients with conductive or mixed hearing loss were found to have a unilateral or bilateral SCD. The disease was bilateral in five cases, and most often associated with a dehiscence of the tegmen tympani on both sides, supporting the theory of the congenital nature of the disease. There was no clear correlation between symptoms and the size of the SCD. Because patients were not suffering from incapacitating vestibular symptoms, they were not operated for surgical occlusion of the SCD, and were referred to a hearing aid specialist to improve hearing. Conductive or mixed hearing loss due to SCD is relatively frequent, justifying in our opinion that a systematic HRCT be carried out before surgery of any patient with conductive hearing loss.

  17. Kidney Disease among Patients with Sickle Cell Disease, Hemoglobin SS and SC.

    Science.gov (United States)

    Drawz, Paul; Ayyappan, Sabarish; Nouraie, Mehdi; Saraf, Santosh; Gordeuk, Victor; Hostetter, Thomas; Gladwin, Mark T; Little, Jane

    2016-02-05

    Sickle cell disease (SCD) is an inherited anemia that afflicts millions worldwide. Kidney disease is a major contributor to its morbidity and mortality. We examined contemporary and historical SCD populations to understand how renal disease behaved in hemoglobin SS (HbSS) compared with HbSC. Kidney function was examined in the multicentered Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy (Walk-PHaSST) Trial (HbSS=463; HbSC=127; years 2007-2009) and historical comparator populations from the Cooperative Study of Sickle Cell Disease (CSSCD; HbSS=708) and the Multicenter Study of Hydroxyurea in Sickle Cell Disease (MSH; HbSS=299). In adults with SCD, eGFR was lower among older individuals: -1.78 ml/min per 1.73 m(2) per year of age (95% confidence interval [95% CI], -2.06 to -1.50; Walk-PHaSST Trial), -1.75 ml/min per 1.73 m(2) per year of age (95% CI, -2.05 to -1.44; MSH), and -1.69 ml/min per 1.73 m(2) per year of age (95% CI, -2.00 to -1.38; CSSCD) in HbSS compared with -1.09 ml/min per 1.73 m(2) per year of age (95% CI, -1.39 to -0.75) in HbSC (Walk-PHaSST Trial). Macroalbuminuria was seen in 20% of participants with SCD (HbSS or HbSC; P=0.45; Walk-PHaSST Trial), but microalbuminuria was more prevalent in HbSS (44% versus 23% in HbSC; P<0.002). In the Walk-PHaSST Trial, albuminuria was associated with hemolysis (higher lactate dehydrogenase, P<0.001; higher absolute reticulocyte count, P<0.02; and lower Hb, P=0.07) and elevated systolic BP (P<0.001) in HbSS. One half of all participants with HbSS (20 of 39) versus one fifth without (41 of 228) elevated tricuspid regurgitant jet velocity (≥3 m/s; adverse prognostic indicator in SCD) had macroalbuminuria (P<0.001). In the CSSCD, overt proteinuria, detected (less sensitively) by urine dipstick, associated with higher 3-year mortality (odds ratio, 2.48; 95% CI, 1.07 to 5.77). Serum bicarbonate was lower in HbSS (23.8 versus 24.8 mEq/dl in HbSC; P<0.05) and associated with

  18. Controlling sickle cell disease in Ghana ethics and options

    African Journals Online (AJOL)

    raoul

    2011-10-03

    Oct 3, 2011 ... natural history of sickle cell disease, 3,578 patients ranging from newborns to those 66 years old were followed up for 18,356 patient-years [5]. The investigators ... indicate that hematopoietic stem cell transplantation in SCD is associated with an excellent outcome with overall and event-free survivals of.

  19. SCD1 Expression is dispensable for hepatocarcinogenesis induced by AKT and Ras oncogenes in mice.

    Directory of Open Access Journals (Sweden)

    Lei Li

    Full Text Available Increased de novo lipogenesis is one of the major metabolic events in cancer. In human hepatocellular carcinoma (HCC, de novo lipogenesis has been found to be increased and associated with the activation of AKT/mTOR signaling. In mice, overexpression of an activated form of AKT results in increased lipogenesis and hepatic steatosis, ultimately leading to liver tumor development. Hepatocarcinogenesis is dramatically accelerated when AKT is co-expressed with an oncogenic form of N-Ras. SCD1, the major isoform of stearoyl-CoA desaturases, catalyzing the conversion of saturated fatty acids (SFA into monounsaturated fatty acids (MUFA, is a key enzyme involved in de novo lipogenesis. While many studies demonstrated the requirement of SCD1 for tumor cell growth in vitro, whether SCD1 is necessary for tumor development in vivo has not been previously investigated. Here, we show that genetic ablation of SCD1 neither inhibits lipogenesis and hepatic steatosis in AKT-overexpressing mice nor affects liver tumor development in mice co-expressing AKT and Ras oncogenes. Molecular analysis showed that SCD2 was strongly upregulated in liver tumors from AKT/Ras injected SCD1(-/- mice. Noticeably, concomitant silencing of SCD1 and SCD2 genes was highly detrimental for the growth of AKT/Ras cells in vitro. Altogether, our study provides the evidence, for the first time, that SCD1 expression is dispensable for AKT/mTOR-dependent hepatic steatosis and AKT/Ras-induced hepatocarcinogenesis in mice. Complete inhibition of stearoyl-CoA desaturase activity may be required to efficiently suppress liver tumor development.

  20. Hematological profile of sickle cell disease from South Gujarat, India

    Directory of Open Access Journals (Sweden)

    Sanjeev Shyam Rao

    2012-05-01

    Full Text Available The aim of this study was to determine hematological profile of sickle cell disease (SCD from Surat, South Gujarat, India. This prospective cross-sectional study was conducted in the Department of Pediatrics and Sickle Cell Anemia Laboratory, Faculty of Pathology, Government Medical College, Surat, India, between July 2009 and December 2010. Patients included in this study were in their steady state for a long period of time without any symptoms related to SCD or other diseases which could affect the hematological parameters. Venous blood of all patients was collected in ethylenediaminetetraacetic acid and hematological indices were measured. Thirty-three subjects homozygous in all were studied for their hematological parameters for sickle cell anemia. Moderate to severe anemia, low mean cell volume and high foetal hemoglobin dominate the hematological profile of SCD children.

  1. [Pulmonary complications of sickle cell disease in children].

    Science.gov (United States)

    Pincez, T; Calamy, L; Germont, Z; Lemoine, A; Lopes, A-A; Massiot, A; Tencer, J; Thivent, C; Hadchouel, A

    2016-10-01

    Acute and chronic pulmonary complications are frequent in sickle cell disease (SCD), with different spectrum and characteristics in children and adults. Chronic hypoxia is frequent and plays a role in several respiratory complications in SCD. Furthermore, hypoxia has been associated with a higher risk of cerebral ischemia. Despite differing oxygen affinity between hemoglobin A and S, standard pulse oximetry was shown to be accurate in diagnosing hypoxia in SCD patients. Whereas acute hypoxia management is similar to non-SCD patients, chronic hypoxia treatment is mainly based on a transfusion program rather than long-term oxygen therapy. Acute chest syndrome (ACS) is the foremost reason for admission to the intensive care unit and the leading cause of premature death. Guidelines on its management have recently been published. Asthma appears to be a different comorbidity and may increase the risk of vaso-occlusive crisis, ACS, and early death. Its management is not specific in SCD, but systemic steroids must be used carefully. Pulmonary hypertension (PH) is a major risk factor of death in adult patients. In children, no association between PH and death has been shown. Elevated tricuspid regurgitant velocity was associated with lower performance on the 6-min walk test (6MWT) but its long-term consequences are still unknown. These differences could be due to different pathophysiology mechanisms. Systematic screening is recommended in children. Regarding lung functions, although obstructive syndrome appears to be rare, restrictive pattern prevalence increases with age in SCD patients. Adaptation to physical exercise is altered in SCD children: they have a lower walking distance at the 6MWT than controls and can experience desaturation during effort, but muscular blood flow regulation maintains normal muscular strength. Sleeping disorders are frequent in SCD children, notably Obstructive sleep apnea syndrome (OSAS). Because of the neurological burden of nocturnal hypoxia

  2. Turf wars: exploring splenomegaly in sickle cell disease in malaria-endemic regions.

    Science.gov (United States)

    Tubman, Venée N; Makani, Julie

    2017-06-01

    Sickle cell disease (SCD) is a group of recessively inherited disorders of erythrocyte function that presents an ongoing threat to reducing childhood and adult morbidity and mortality around the world. While decades of research have led to improved survival for SCD patients in wealthy countries, survival remains dismal in low- and middle-income countries. Much of the early mortality associated with SCD is attributed to increased risk of infections due to early loss of splenic function. In the West, bacterial infections with encapsulated organisms are a primary concern. In sub-Saharan Africa, where the majority of infants with SCD are born, the same is true. However malaria presents an additional threat to survival. The search for factors that define variability in sickle cell phenotypes should include environmental modifiers, such as malaria. Further exploration of this relationship could lead to novel strategies to reduce morbidity and mortality attributable to infections. In this review, we explore the interactions between SCD, malaria and the spleen to better understand how splenomegaly and splenic (dys)function may co-exist in patients with SCD living in malaria-endemic areas. © 2017 John Wiley & Sons Ltd.

  3. Apoptosis induction in Jurkat cells and sCD95 levels in women's sera are related with the risk of developing cervical cancer

    Directory of Open Access Journals (Sweden)

    Bravo-Cuellar Alejandro

    2008-04-01

    Full Text Available Abstract Background Currently, there is clear evidence that apoptosis plays an important role in the development and progression of tumors. One of the best characterized apoptosis triggering systems is the CD95/Fas/APO-1 pathway; previous reports have demonstrated high levels of soluble CD95 (sCD95 in serum of patients with some types of cancer. Cervical cancer is the second most common cancer among women worldwide. As a first step in an attempt to design a minimally invasive test to predict the risk of developing cervical cancer in patients with precancerous lesions, we used a simple assay based on the capacity of human serum to induce apoptosis in Jurkat cells. We evaluated the relationship between sCD95 levels and the ability to induce apoptosis in Jurkat cells in cervical cancer patients and controls. Methods Jurkat cells were exposed to serum from 63 women (20 healthy volunteers, 21 with cervical intraepithelial neoplasia grade I [CIN 1] and 22 with cervical-uterine carcinoma. The apoptotic rate was measured by flow cytometry using Annexin-V-Fluos and Propidium Iodide as markers. Serum levels of sCD95 and soluble CD95 ligand (sCD95L were measured by ELISA kits. Results We found that serum from almost all healthy women induced apoptosis in Jurkat cells, while only fifty percent of the sera from women with CIN 1 induced cell death in Jurkat cells. Interestingly, only one serum sample from a patient with cervical-uterine cancer was able to induce apoptosis, the rest of the sera protected Jurkat cells from this killing. We were able to demonstrate that elimination of Jurkat cells was mediated by the CD95/Fas/Apo-1 apoptotic pathway. Furthermore, the serum levels of sCD95 measured by ELISA were significantly higher in women with cervical cancer. Conclusion Our results demonstrate that there is a strong correlation between low levels of sCD95 in serum of normal women and higher apoptosis induction in Jurkat cells. We suggest that an analysis of

  4. Apoptosis induction in Jurkat cells and sCD95 levels in women's sera are related with the risk of developing cervical cancer

    International Nuclear Information System (INIS)

    Aguilar-Lemarroy, Adriana; Jave-Suarez, Luis F; Romero-Ramos, Jose E; Olimon-Andalon, Vicente; Hernandez-Flores, Georgina; Lerma-Diaz, Jose M; Ortiz-Lazareno, Pablo C; Morgan-Villela, Gilberto; Toro-Arreola, Susana del; Bravo-Cuellar, Alejandro

    2008-01-01

    Currently, there is clear evidence that apoptosis plays an important role in the development and progression of tumors. One of the best characterized apoptosis triggering systems is the CD95/Fas/APO-1 pathway; previous reports have demonstrated high levels of soluble CD95 (sCD95) in serum of patients with some types of cancer. Cervical cancer is the second most common cancer among women worldwide. As a first step in an attempt to design a minimally invasive test to predict the risk of developing cervical cancer in patients with precancerous lesions, we used a simple assay based on the capacity of human serum to induce apoptosis in Jurkat cells. We evaluated the relationship between sCD95 levels and the ability to induce apoptosis in Jurkat cells in cervical cancer patients and controls. Jurkat cells were exposed to serum from 63 women (20 healthy volunteers, 21 with cervical intraepithelial neoplasia grade I [CIN 1] and 22 with cervical-uterine carcinoma). The apoptotic rate was measured by flow cytometry using Annexin-V-Fluos and Propidium Iodide as markers. Serum levels of sCD95 and soluble CD95 ligand (sCD95L) were measured by ELISA kits. We found that serum from almost all healthy women induced apoptosis in Jurkat cells, while only fifty percent of the sera from women with CIN 1 induced cell death in Jurkat cells. Interestingly, only one serum sample from a patient with cervical-uterine cancer was able to induce apoptosis, the rest of the sera protected Jurkat cells from this killing. We were able to demonstrate that elimination of Jurkat cells was mediated by the CD95/Fas/Apo-1 apoptotic pathway. Furthermore, the serum levels of sCD95 measured by ELISA were significantly higher in women with cervical cancer. Our results demonstrate that there is a strong correlation between low levels of sCD95 in serum of normal women and higher apoptosis induction in Jurkat cells. We suggest that an analysis of the apoptotic rate induced by serum in Jurkat cells and the

  5. Multiple bone and joint disease in a sickle cell anaemia patient: a case report

    Directory of Open Access Journals (Sweden)

    John Ayodele Olaniyi

    2012-05-01

    Multidisciplinary approach was applied to her management and she was finally discharged home on a wheelchair. This case reflects not only the high susceptibility of SCD patients to infection, but also the morbidity and the attendant complications. It also highlights the need to forestall vaso-occlusive crisis (VOC which often predisposes them to developing osteomyelitis. There is a need to have a highly organized, well-equipped and highly subsidized Sickle Cell and rehabilitation Center in order to further improve the care of SCD patients.

  6. Hemoglobin and mean platelet volume predicts diffuse T1-MRI white matter volume decrease in sickle cell disease patients

    Directory of Open Access Journals (Sweden)

    Soyoung Choi

    2017-01-01

    Our findings suggest that there are diffuse white matter abnormalities in SCD patients, especially in the frontal, parietal and temporal lobes, that are associated with low hemoglobin levels and mean platelet volume. The pattern of brain loss suggests chronic microvascular insufficiency and tissue hypoxia as the causal mechanism. However, longitudinal studies of global and regional brain morphometry can help us give further insights on the pathophysiology of SCD in the brain.

  7. Deficiency of the melanin biosynthesis genes SCD1 and THR1 affects sclerotial development and vegetative growth, but not pathogenicity, in Sclerotinia sclerotiorum.

    Science.gov (United States)

    Liang, Yue; Xiong, Wei; Steinkellner, Siegrid; Feng, Jie

    2017-10-11

    The fungus Sclerotinia sclerotiorum is a necrotrophic plant pathogen causing significant damage on a broad range of crops. This fungus produces sclerotia that serve as the long-term survival structures in the life cycle and the primary inoculum in the disease cycle. Melanin plays an important role in protecting mycelia and sclerotia from ultraviolet radiation and other adverse environmental conditions. In this study, two genes, SCD1 encoding a scytalone dehydratase and THR1 encoding a trihydroxynaphthalene reductase, were disrupted by target gene replacement, and their roles in mycelial growth, sclerotial development and fungal pathogenicity were investigated. Phylogenetic analyses indicated that the deduced amino acid sequences of SCD1 and THR1 were similar to the orthologues of Botrytis cinerea. Expression of SCD1 was at higher levels in sclerotia relative to mycelia. THR1 was expressed at similar levels in mycelia and sclerotia at early stages, but was up-regulated in sclerotia at the maturation stage. Disruption of SCD1 or THR1 did not change the pathogenicity of the fungus, but resulted in slower radial growth, less biomass, wider angled hyphal branches, impaired sclerotial development and decreased resistance to ultraviolet light. © 2017 BSPP AND JOHN WILEY & SONS LTD.

  8. Priapism in paediatric patients with sickle cell disease - a report of ...

    African Journals Online (AJOL)

    Results: Of the 185 SCD cases, three (1.6%) had priapism. They were adolescents aged 17years, 11years and 10 years 9months respectively. Two patients had never attended a sickle cell clinic, never been on routine drugs nor received advice on oral liberal fluids intake. One patient had stuttering priapism, 24hours before ...

  9. Chronic diseases among older cancer patients.

    OpenAIRE

    Deckx, L.D.; Akker, M.A. van der; Metsemakers, J.M.; Knottnerus, A.K.; Schellevis, F.G.; Buntinx, F.B.

    2011-01-01

    Introduction: With the growing number of older cancer patients, the burden of chronic diseases among older cancer patients will become increasingly important. Chronic diseases often interfere with treatment decisions and prognosis for cancer patients. However, little is known about the occurrence of chronic diseases among older cancer patients. Aim: We aim to examine the frequency of pre-existing and subsequent chronic diseases among cancer patients above age 60 in comparison with non-cancer ...

  10. Aberrant monocyte responses predict and characterize dengue virus infection in individuals with severe disease.

    Science.gov (United States)

    Yong, Yean K; Tan, Hong Y; Jen, Soe Hui; Shankar, Esaki M; Natkunam, Santha K; Sathar, Jameela; Manikam, Rishya; Sekaran, Shamala D

    2017-05-31

    Currently, several assays can diagnose acute dengue infection. However, none of these assays can predict the severity of the disease. Biomarkers that predicts the likelihood that a dengue patient will develop a severe form of the disease could permit more efficient patient triage and allows better supportive care for the individual in need, especially during dengue outbreaks. We measured 20 plasma markers i.e. IFN-γ, IL-10, granzyme-B, CX3CL1, IP-10, RANTES, CXCL8, CXCL6, VCAM, ICAM, VEGF, HGF, sCD25, IL-18, LBP, sCD14, sCD163, MIF, MCP-1 and MIP-1β in 141 dengue patients in over 230 specimens and correlate the levels of these plasma markers with the development of dengue without warning signs (DWS-), dengue with warning signs (DWS+) and severe dengue (SD). Our results show that the elevation of plasma levels of IL-18 at both febrile and defervescence phase was significantly associated with DWS+ and SD; whilst increase of sCD14 and LBP at febrile phase were associated with severity of dengue disease. By using receiver operating characteristic (ROC) analysis, the IL-18, LBP and sCD14 were significantly predicted the development of more severe form of dengue disease (DWS+/SD) (AUC = 0.768, P dengue disease. Given that the elevation IL-18, LBP and sCD14 among patients with severe form of dengue disease, our findings suggest a pathogenic role for an aberrant inflammasome and monocyte activation in the development of severe form of dengue disease.

  11. The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease

    Directory of Open Access Journals (Sweden)

    F. Moreira Neto

    2006-10-01

    Full Text Available Sickle cell disease (SCD is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden, the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women, 29 with SS (sickle cell anemia; 28 years, range: 13-52 years and 24 with SC (sickle-hemoglobin C disease; 38.5 years, range: 17-72 years hemoglobinopathy. Factor V Leiden, MTHFR C677T polymorphism, and prothrombin G20210A variant were identified by PCR followed by further digestion of the PCR product with specific endonucleases. The following vascular complications were recorded: stroke, retinopathy, acute thoracic syndrome, and X-ray-documented avascular necrosis. Only one patient was heterozygous for factor V Leiden (1.8% and there was no prothrombin G20210A variant. MTHFR 677TT polymorphism was detected in 1 patient (1.8% and the heterozygous form 677TC was observed in 18 patients (34%, 9 with SS and 9 with SC disease, a prevalence similar to that reported by others. No association was detected between the presence of the MTHFR 677T allele and other genetic modulation factors, such as alpha-thalassemia, ß-globin gene haplotype and fetal hemoglobin. The presence of the MTHFR 677T allele was associated with the occurrence of vascular complications in SCD, although this association was not significant when each complication was considered separately. In conclusion, MTHFR C677T polymorphism might be a risk factor for vascular complications in SCD.

  12. Pharmacoeconomic considerations in treating iron overload in patients with β-thalassaemia, sickle cell disease and myelodysplastic syndromes in the US: a literature review.

    Science.gov (United States)

    Zhang, Bin; Donga, Prina Z; Corral, Mitra; Sasane, Medha; Miller, Jeffrey D; Pashos, Chris L

    2011-06-01

    Patients with β-thalassaemia, sickle cell disease (SCD) and myelodysplastic syndromes (MDS) require chronic blood transfusions, which can lead to iron overload and substantial morbidity and mortality. To reduce the excess iron and its deleterious effects, available iron chelation therapy (ICT) in the US includes oral deferasirox or infusional deferoxamine (DFO). The aim of this study was to review and synthesize the available pharmacoeconomic evidence on ICT in patients with β-thalassaemia, SCD and MDS in the US. We systematically identified and reviewed pharmacoeconomic studies of ICT in patients with β-thalassaemia, SCD and MDS that either were published in MEDLINE-indexed, English-language journals from 1999 to 2009, or appeared in medical society websites and scientific meeting abstracts. We assessed available cost-of-illness, cost-of-treatment, cost-consequence, cost-effectiveness, utility and patient-satisfaction studies. The majority of the 20 identified studies assessed cost of treatment, mainly focusing on acquisition and administration costs of ICTs. Gaps in the published literature include current data on direct medical costs for patients with MDS, direct medical costs associated with complications of iron overload, direct non-medical costs, indirect costs and patient utilities. Different underlying model assumptions, methodologies and comparators were found in the cost-effectiveness studies, which yielded a broad range of incremental cost-effectiveness ratios for different ICTs. Comprehensive cost-of-illness studies are needed to address data gaps in the published literature regarding the economic burden of iron overload. Comparative-effectiveness studies that evaluate clinical, economic and patient-reported outcomes would help the medical community to better understand the value of different ICTs.

  13. Ultrafine particles and platelet activation in patients with coronary heart disease – results from a prospective panel study

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    Wichmann H Erich

    2007-01-01

    Full Text Available Abstract Background Epidemiological studies on health effects of air pollution have consistently shown adverse cardiovascular effects. Toxicological studies have provided evidence for thrombogenic effects of particles. A prospective panel study in a susceptible population was conducted in Erfurt, Germany, to study the effects of daily changes in ambient particles on various blood cells and soluble CD40ligand (sCD40L, also known as CD154, a marker for platelet activation that can cause increased coagulation and inflammation. Blood cells and plasma sCD40L levels were repeatedly measured in 57 male patients with coronary heart disease (CHD during winter 2000/2001. Fixed effects linear regression models were applied, adjusting for trend, weekday and meteorological parameters. Hourly data on ultrafine particles (UFP, number concentration of particles from 0.01 to 0.1 μm, mass concentration of particles less than 10 and 2.5 μm in diameter (PM10, PM2.5, accumulation mode particle counts (AP, 0.1–1.0 μm, elemental and organic carbon, gaseous pollutants and meteorological data were collected at central monitoring sites. Results An immediate increase in plasma sCD40L was found in association with UFP and AP (% change from geometric mean: 7.1; CI: [0.1, 14.5] and 6.9; CI: [0.5, 13.8], respectively. Platelet counts decreased in association with UFP showing an immediate, a three days delayed (lag 3 and a 5-day average response (% change from the mean: -1.8; CI: [-3.4,-0.2]; -2.4; CI: [-4.5,-0.3] and -2.2; CI: [-4.0,-0.3] respectively. Conclusion The increased plasma sCD40L levels support the hypothesis that higher levels of ambient air pollution lead to an inflammatory response in patients with CHD thus providing a possible explanation for the observed association between air pollution and cardiovascular morbidity and mortality in susceptible parts of the population.

  14. Single-case synthesis tools I: Comparing tools to evaluate SCD quality and rigor.

    Science.gov (United States)

    Zimmerman, Kathleen N; Ledford, Jennifer R; Severini, Katherine E; Pustejovsky, James E; Barton, Erin E; Lloyd, Blair P

    2018-03-03

    Tools for evaluating the quality and rigor of single case research designs (SCD) are often used when conducting SCD syntheses. Preferred components include evaluations of design features related to the internal validity of SCD to obtain quality and/or rigor ratings. Three tools for evaluating the quality and rigor of SCD (Council for Exceptional Children, What Works Clearinghouse, and Single-Case Analysis and Design Framework) were compared to determine if conclusions regarding the effectiveness of antecedent sensory-based interventions for young children changed based on choice of quality evaluation tool. Evaluation of SCD quality differed across tools, suggesting selection of quality evaluation tools impacts evaluation findings. Suggestions for selecting an appropriate quality and rigor assessment tool are provided and across-tool conclusions are drawn regarding the quality and rigor of studies. Finally, authors provide guidance for using quality evaluations in conjunction with outcome analyses when conducting syntheses of interventions evaluated in the context of SCD. Copyright © 2018 Elsevier Ltd. All rights reserved.

  15. Age-related treatment patterns in sickle cell disease patients and the associated sickle cell complications and healthcare costs.

    Science.gov (United States)

    Blinder, Morey A; Vekeman, Francis; Sasane, Medha; Trahey, Alex; Paley, Carole; Duh, Mei Sheng

    2013-05-01

    This study explored the blood transfusion patterns, SCD complications, utilization of iron chelation therapies (ICT), healthcare resource use, and costs in pediatric, transitioning (18 years old) and adult patients with SCD. Data from Florida (1998-2009), New Jersey (1996-2009), Missouri (1997-2010), Kansas (2001-2009), and Iowa (1998-2010) state Medicaid were used. Patients with ≥2 SCD diagnoses and ≥1 transfusion event were included. Rates of transfusion events, SCD complications, and proportion of eligible patients receiving ICT were calculated. ICT eligibility was defined as receiving ≥10 transfusions over lifetime. SCD complications included pain, pulmonary event, infection event, renal, cardiovascular, stroke, leg ulcers, and avascular necrosis. Regressions were used to assess risk factors for transfusion and identify the main drivers of costs. The sample included 3,208 patients. The transfusion rate increased from 1-year-old to a peak at 16 years old, then dropped until age 26 and remained stable thereafter. In contrast the frequency of diagnoses for SCD complications increased markedly after age 16. Post-transition patients (≥18 years old) were significantly associated with fewer transfusions (odds ratio: 0.80, P = 0.002). Among eligible patients for ICT, there was no statistically significant difference in total cost between the ICT and no ICT groups (adjusted cost difference, $136, P = 0.114). Patients transitioning to adult care received less transfusions and hydroxyurea, less ICT when eligible for chelation therapy, had higher healthcare costs and suffered from more frequent SCD related complications than pediatric patients. These findings highlight the changes in treatment patterns corresponding to transition to adult care. Copyright © 2013 Wiley Periodicals, Inc.

  16. Practice patterns and clinical significance of use of capsule endoscopy in suspected and established Crohn's disease

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    Yonghyun Kim

    2017-10-01

    Full Text Available Background/Aims: Although the role of capsule endoscopy (CE in Crohn's disease (CD has expanded, CE is not used routinely for diagnosing and evaluating CD in Korea. We aimed to investigate current patterns of practice and evaluate the clinical significance of the use of CE in CD in Korean patients.Methods: Among 651 CE procedures performed for various indications, we retrospectively analyzed the medical records of patients who underwent CE in 57 cases of suspected CD (sCD and 14 cases of established CD (eCD.Results: In the sCD group, CE was most commonly used for the initial diagnosis of CD (54.4%. Capsule retention was found in only 1 patient in the eCD group (1/71, 1.4%. In the sCD group, 28.1% of patients were diagnosed with CD on the basis of CE findings; other diseases diagnosed included tuberculous enteritis (7.0%, non-steroidal anti-inflammatory drug-induced enteropathy (5.3%, and other enteritis (17.5%. Only 11.5% of patients with eCD (14/122 underwent CE. The indication for CE in the 14 patients with eCD was to assess disease extent and activity. The overall diagnostic yield of CE was 59.7%. Therapeutic strategies were changed in 70.2% of patients in the sCD group and 50% of those in the eCD group based on CE findings.Conclusions: In clinical practice, CE was most commonly indicated for the initial diagnosis of CD and was not generally performed in patients with eCD. CE appears to be an effective diagnostic modality for evaluating sCD and is useful for determining therapeutic strategies for patients with sCD and those with eCD.

  17. High prevalence of complementary and alternative medicine use among patients with sickle cell disease in a tertiary hospital in Lagos, South West, Nigeria.

    Science.gov (United States)

    Busari, A A; Mufutau, M A

    2017-06-07

    Attention and interest in the use of complementary and alternative medicine (CAM) has been reignited globally, most especially in patients with chronic diseases. Sickle cell disease (SCD) is one of such chronic diseases associated with devastating clinical and psychosocial consequences, thus leading those affected to seek alternative treatment apart from orthodox medicine. Hence, this study aimed to determine the prevalence, pattern and tolerability of the use of CAM in patients with SCD in the Lagos University Teaching Hospital (LUTH). This was a cross-sectional survey of 200 respondents with SCD attending the hematology clinics of the Lagos University Teaching Hospital over a period of 3 months. Data on socio-demographic characteristic, clinical profile, the types and sources of CAM used were collected using a well structured pretested questionnaire. The data obtained were analyzed using Statistical Package for Social Sciences (SPSS®) version 17. Of the 200 patients who participated in the study, 113; 56.5% were males and 87; 43.5% were females. Majority of the SCD patients were 1-10 years old and their mean age was 18.8 ± 14.39 years. CAM was reportedly used by 88.5% of the respondents. Biological (herbal) products 156; 62.9% were the most commonly used CAM, followed by alternative medical systems 52; 20.9% and mind-body interventions 30; 12.1%. Relations, friends and neighbors influenced 85.2% of CAM users by recommending CAM to them. Tolerability of CAM was perceived to be excellent as only 33 (18.6%) of the respondents abandoned the use of CAM. Comparing CAM users and CAM non-users, there was no statistical significant difference in the proportion of those >18 years (45.76% vs 52.17%; p = 0.658), those who experienced two or more crises (51.41% vs 34.78%; p = 0.183), and those with stable haemoglobin concentration of >7 g/dL (15.81% vs 8.69%; p = 0.539) More patients among CAM non-users (91.30%) significantly spend over 3000 Naira (USD 15) per

  18. Pro-Inflammatory Cytokines but Not Endotoxin-Related Parameters Associate with Disease Severity in Patients with NAFLD.

    Directory of Open Access Journals (Sweden)

    Johannie du Plessis

    Full Text Available Intestinal dysbiosis and elevated lipopolysaccharides (LPS levels have been implicated in the development of obesity, insulin resistance and non-alcoholic steatohepatitis (NASH. In order to determine if LPS levels are elevated in patients with NASH compared to patients with non-alcoholic fatty liver (NAFL and, if elevated LPS levels correlated with histological severity of non-alcoholic fatty liver disease (NAFLD we compared LPS, markers of LPS bioactivity and pro-inflammatory cytokines/chemokines in patients undergoing bariatric surgery. At the time of surgery a liver biopsy was taken allowing the stratification into well-delineated subgroups including: No NAFL/NAFL; NASH; NASH with fibrosis and NASH cirrhotics, using the NAFLD Activity Score (NAS. Anthropometric data and plasma were collected for assessment of LPS, lipopolysaccharide binding protein (LBP, soluble CD14 (sCD14, intestinal-type fatty acid binding protein (iFABP, Toll-like receptors 2 and 4 (TLR2, 4 and a panel of cytokines/chemokines. Similar analysis was performed on plasma from a cohort of healthy controls. Our data indicate elevated levels of LPS, LBP, sCD14, iFABP and TLR2,4 in obese patients compared to healthy controls, however, these parameters remained unaltered within patients with limited liver disease (NAFL compared to NASH/NASH with fibrosis subgroups. Hierarchic cluster analysis using endotoxin-related parameters failed to discriminate between lean controls, NAFLD. While similar cluster analysis implementing inflammation-related parameters clearly distinguished lean controls, NALFD subgroups and NASH cirrhotics. In addition, LPS levels was not associated with disease severity while TNFα, IL8, and CCL3 featured a clear correlation with transaminase levels and the histological severity of NALFD. In conclusion our data indicate a stronger correlation for circulating inflammatory- rather than endotoxin-related parameters in progression of NAFLD and highlights the need

  19. Approach to the asymptomatic patients with Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Minoru Yoshiyama

    2007-04-01

    Full Text Available Brugada syndrome is an arrhythmogenic disease characterized by an ECG pattern of coved-type ST segment elevation in the right precordial leads and an increased risk of sudden cardiac death (SCD as a result of polymorphic ventricular tachyarrhythmia or ventricular fibrillation (VF. Data from large patient studies and a meta-analysis of previous reports have shown that patients with a history of syncope or SCD and a spontaneous type 1 Brugada ECG are at high risk for SCD. However, risk stratification of asymptomatic patients with Brugada type ECG is still a challenge. In particular, the use of electrophysiological study (EPS for risk stratification remains controversial. Although some investigators have reported the possibility of use of EPS for distinguishing between high- and low-risk patients with Brugada type ECG, no precise predictor of risk for SCD in asymptomatic patients has yet been determined. The approach to treatment of these patients is thus still unclear. Large clinical prospective studies with uniform diagnostic criteria and protocols for EPS as well as extended follow-up periods of over ten years are required for prediction of SCD.

  20. A telephonic mindfulness-based intervention for persons with sickle cell disease: study protocol for a randomized controlled trial.

    Science.gov (United States)

    Williams, Hants; Silva, Susan; Simmons, Leigh Ann; Tanabe, Paula

    2017-05-15

    One of the most difficult symptoms for persons with sickle cell disease (SCD) to manage is chronic pain. Chronic pain impacts approximately one-third of persons with SCD and is associated with increased pain intensity, pain behavior, and frequency and duration of hospital visits. A promising category of nonpharmacological interventions for managing both physical and affective components of pain are mindfulness-based interventions (MBIs). The primary aim of this study is to conduct a randomized controlled study to evaluate the acceptability and feasibility, as well as to determine the preliminary efficacy, of a telephonic MBI for adults with SCD who have chronic pain. We will enroll 60 adult patients with SCD and chronic pain at an outpatient comprehensive SCD center in the southeastern United States. Patients will be randomized to either an MBI or a wait-listed control group. The MBI group will complete a six-session (60 minutes), telephonically delivered, group-based MBI program. The feasibility, acceptability, and efficacy of the MBI regarding pain catastrophizing will be assessed by administering questionnaires at baseline and weeks 1, 3, and 6. In addition, ten randomly selected MBI participants will complete semistructured interviews to help determine intervention acceptability. In this study protocol, we report detailed methods of the randomized controlled trial. Findings of this study will be useful to determine the acceptability, feasibility, and efficacy of an MBI for persons with SCD and chronic pain. ClinicalTrials.gov identifier: NCT02394587 . Registered on 9 February 2015.

  1. MANAGEMENT OF SICKLE CELL DISEASE

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    Rajesh

    2016-02-01

    Full Text Available Sickle cell disease (SCD is a genetically transmitted multisystem disease1 which includes a group of disorders that differs in severity sign and symptoms, The disease is not uniformly seen everywhere but it has some topographical distribution. In India, it is frequently seen in Central India, in and around the vicinity of Chhattisgarh in some religions in caste like kurmis, satnami, mahar, other backward caste and some tribes, it has great pathological significance considering the high morbidity and mortality resulting from the disease process. We have studied the cases of SCD from 2001 to 2015 series of such patients, since there is no cure of this disease, in regards to prevention of this genetic autosomal recessive disorder by marriage counseling, the incidence can be significantly reduced by avoiding consanguineous marriages in the susceptible community.

  2. Association of social-environmental factors with cognitive function in children with sickle cell disease.

    Science.gov (United States)

    Yarboi, Janet; Compas, Bruce E; Brody, Gene H; White, Desiree; Rees Patterson, Jenny; Ziara, Kristen; King, Allison

    2017-04-01

    The aim of this study was to examine the relationship between cognitive function in pediatric sickle cell disease (SCD) patients and mothers' reports of social-environmental stress, depressive symptoms, and parenting. A total of 65 children with SCD completed comprehensive neuropsychological testing to assess several domains of cognitive functioning, including general intellectual ability, academic achievement, and executive function. Mothers reported on demographics, social-environmental stress, depressive symptoms, and parenting. As predicted, children with SCD significantly underperformed relative to normative data on measures of cognitive function. Associations between maternal social-environmental stress, maternal depressive symptoms, and parenting were mixed. The results show partial support for the hypothesis that greater stress and depressive symptoms and less positive parenting are associated with poorer cognitive function in children with SCD. Linear regression analyses showed that maternal financial stress was the strongest predictor across all domains of cognitive function. The findings replicate and extend past research, reaffirming that children with SCD are at risk for cognitive impairment across multiple domains. Additionally, social-environmental stress, particularly financial strain, is linked to mothers' depressive symptoms and parenting behaviors as well as children's cognitive function. Future studies using direct observations of parenting behaviors are needed. These findings, along with recent research on parenting interventions, may inform the development of concrete, teachable parenting and coping skills to improve cognitive functioning in children with SCD.

  3. Long-term safety and efficacy of deferasirox (Exjade®) for up to 5 years in transfusional iron-overloaded patients with sickle cell disease

    Science.gov (United States)

    Vichinsky, Elliott; Bernaudin, Françoise; Forni, Gian Luca; Gardner, Renee; Hassell, Kathryn; Heeney, Matthew M; Inusa, Baba; Kutlar, Abdullah; Lane, Peter; Mathias, Liesl; Porter, John; Tebbi, Cameron; Wilson, Felicia; Griffel, Louis; Deng, Wei; Giannone, Vanessa; Coates, Thomas

    2011-01-01

    To date, there is a lack of long-term safety and efficacy data for iron chelation therapy in transfusion-dependent patients with sickle cell disease (SCD). To evaluate the long-term safety and efficacy of deferasirox (a once-daily oral iron chelator), patients with SCD completing a 1-year, Phase II, randomized, deferoxamine (DFO)-controlled study entered a 4-year extension, continuing to receive deferasirox, or switching from DFO to deferasirox. Average actual deferasirox dose was 19·4 ± 6·3 mg/kg per d. Of 185 patients who received at least one deferasirox dose, 33·5% completed the 5-year study. The most common reasons for discontinuation were withdrawal of consent (23·8%), lost to follow-up (9·2%) and adverse events (AEs) (7·6%). Investigator-assessed drug-related AEs were predominantly gastrointestinal [including nausea (14·6%), diarrhoea (10·8%)], mild-to-moderate and transient in nature. Creatinine clearance remained within the normal range throughout the study. Despite conservative initial dosing, serum ferritin levels in patients with ≥4 years deferasirox exposure significantly decreased by −591 μg/l (95% confidence intervals, −1411, −280 μg/l; P=0·027; n=67). Long-term deferasirox treatment for up to 5 years had a clinically acceptable safety profile, including maintenance of normal renal function, in patients with SCD. Iron burden was substantially reduced with appropriate dosing in patients treated for at least 4 years. PMID:21592110

  4. Long-term safety and efficacy of deferasirox (Exjade) for up to 5 years in transfusional iron-overloaded patients with sickle cell disease.

    Science.gov (United States)

    Vichinsky, Elliott; Bernaudin, Françoise; Forni, Gian Luca; Gardner, Renee; Hassell, Kathryn; Heeney, Matthew M; Inusa, Baba; Kutlar, Abdullah; Lane, Peter; Mathias, Liesl; Porter, John; Tebbi, Cameron; Wilson, Felicia; Griffel, Louis; Deng, Wei; Giannone, Vanessa; Coates, Thomas

    2011-08-01

    To date, there is a lack of long-term safety and efficacy data for iron chelation therapy in transfusion-dependent patients with sickle cell disease (SCD). To evaluate the long-term safety and efficacy of deferasirox (a once-daily oral iron chelator), patients with SCD completing a 1-year, Phase II, randomized, deferoxamine (DFO)-controlled study entered a 4-year extension, continuing to receive deferasirox, or switching from DFO to deferasirox. Average actual deferasirox dose was 19·4 ± 6·3 mg/kg per d. Of 185 patients who received at least one deferasirox dose, 33·5% completed the 5-year study. The most common reasons for discontinuation were withdrawal of consent (23·8%), lost to follow-up (9·2%) and adverse events (AEs) (7·6%). Investigator-assessed drug-related AEs were predominantly gastrointestinal [including nausea (14·6%), diarrhoea (10·8%)], mild-to-moderate and transient in nature. Creatinine clearance remained within the normal range throughout the study. Despite conservative initial dosing, serum ferritin levels in patients with ≥ 4 years deferasirox exposure significantly decreased by -591 μg/l (95% confidence intervals, -1411, -280 μg/l; P = 0·027; n = 67). Long-term deferasirox treatment for up to 5 years had a clinically acceptable safety profile, including maintenance of normal renal function, in patients with SCD. Iron burden was substantially reduced with appropriate dosing in patients treated for at least 4 years. © 2011 Blackwell Publishing Ltd.

  5. Assessing the Effect of an Educational Intervention on Nurses' and Patient Care Assistants' Comprehension and Documentation of Functional Ability in Pediatric Patients with Sickle Cell Disease.

    Science.gov (United States)

    Bernier, Katherine M; Strobel, Megan; Lucas, Ruth

    2018-04-13

    In 2014, the Youth Acute Pain Functional Ability Questionnaire (YAPFAQ) was developed to investigate patient's self-rated functional ability during times of acute pain in the inpatient clinical setting. Although it has great potential, the application of this tool has not been made a standard of care. The purpose of this multiple methods study was to determine if, through an educational intervention, hospital staff could consistently document the YAPFAQ in children with sickle cell disease (SCD) during a vaso-occlusive episode. Twenty-two staff members participated in an educational intervention and semi-structured group discussions. Pre/post surveys measured knowledge of the YAPFAQ before and after the intervention. Group discussions were recorded, transcribed verbatim, and analyzed for thematic clusters. Retrospective chart reviews of children with SCD were reviewed for YAPFAQ documentation frequency before and after the intervention. Staff knowledge of who completes the YAPFAQ increased after the intervention, (pcontinues to hold high potential for directing nursing care, but requires staff investment for clinical practice change. A seamless integration between nursing education and translation through EHR is recommended as technology continues to integrate into nursing practice. Copyright © 2018 Elsevier Inc. All rights reserved.

  6. Apathy in Parkinson's disease patients

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    M. R. Nodel

    2014-01-01

    Full Text Available pathy in Parkinson's disease (PD patients is one of the least studied manifestations of a broad range of neuropsychic disorders. According to numerous researchers, the rate of apathy in PD patients is 17–80%. The structural and neurochemical changes associated with PD have been considered to be the leading pathophysiological factors of apathy. The possible general pathophysiological mechanisms are discussed for apathy and hypokinesia, depression, executive (frontal cognitive functions, and sleep disorders in PD patients. The pathophysiological commonality of apathy, hypokinesia, and executive functions is probably based on bilateral disorders of functional links of the striatum and dorsolateral, medial parts of the prefrontal cortex. A combination of apathy and depression in PD patients may be due to dysfunction of the structures of the limbic system and medial orbital prefrontal cortex, which are responsible for the motivationally driven behavior. Variability of relationships of apathy with hypokinesia, depression, cognitive impairments, sleep disorders at different stages of PD may be associated with the phenomenological heterogeneity of apathy. Apathy reduces quality of life, makes a significant contribution to disturbances of both everyday and social adaptation of PD patients. A study of the possibility for apathy correction using dopaminergic therapy is rather promising. Twenty patients with PD (the middle stage according to the Hoehn and Yahr scale, 2.5 received pramipexole (1.5–3.0 mg/day to correct motor disorders. A statistically significant positive trend in the time course of apathy, according to the overall assessment by the Starkstein apathy scale (AS, was noted after 4–6 weeks of the therapy. Based on the results, no statistically significant correlation was observed between the dynamics of the overall apathy score and the dynamics of motor symptoms of PD on the unified rating scale for PD assessment («Motor functions». We

  7. Sporadic Creutzfeldt-Jakob disease in a native Puerto Rican patient.

    Science.gov (United States)

    Del Pilar-Morales, Esteban A; Cali, Ignazio; Chapas, Javier; Bertrán-Pasarell, Jorge; Puoti, Gianfranco; Gambetti, Pierluigi; Nobo, Ulises

    2015-03-01

    The diagnosis of Creutzfeldt-Jakob disease (CJD) is often a challenge for most physicians given its extremely low incidence and different clinico-pathological presentations. We report the case of a 56-year old patient native to Puerto Rico suspected of sporadic Creutzfeldt-Jakob disease (sCD). The symptoms at onset were notorious for bilateral cortical blindness followed by rapidly progressive cognitive decline, visual deficit, increased levels of CSF 14-3-3 and tau along with positive brain MRI and EEG, are highly indicative of CJD. The definite diagnosis was confirmed by the National Prion Disease Pathology Surveillance Center (NPDPSC), in Cleveland, Ohio, USA. Lack of genetic mutations in the prion protein (PrP) gene, widespread histopathological changes and the accumulation of scrapie PrP (PrPSc) in the brain confirmed the diagnosis of sCJD. The patient, admitted to our institution in 2011, represents the first detailed report of sCJD in a native Puerto Rican patient living in Puerto Rico.

  8. [PATIENT WITH PEPTIC ULCER DISEASE].

    Science.gov (United States)

    Quadranti, N Radošević; Diminić-Lisica, I; Marković, N Bašić; Popović, B

    2015-11-01

    Peptic ulcer disease is represented by a lesion in the mucosa of the digestive tract due to imbalance of its aggressive and protective mechanisms. The main external factors of the development of peptic ulcers are Helicobacter pylori infection and the use of non-steroidal anti inflammatory drugs (NSAIDs) and acetylsalicylic acid (ASA). Symptoms of peptic ulcer disease are a common reason for visiting the family physician. All patients with symptoms of dyspepsia under the age of 50 and without the alarm symptoms should be tested whether H. pylori is present by performing the Urea Breath Test or stool antigene testing, and infection, if found, should be treated. Endoscopic examination is obligatory in patients older than 50 years and those with alarm symptoms. „Sequential therapy“ is recommended in Croatia as the first-line treatment of H. pylori infection, or triple therapy that comprises applying a proton pump inhibitor (PPI) in combination with amoxicillin and metronidazole. Four weeks after eradication therapy the control testing for H. pylori should be performed.

  9. Prevalence of Priapism among Adult Male Sickle Cell Disease ...

    African Journals Online (AJOL)

    Priapism is a serious urological complication of sickle cell disease with adverse clinical and psychological implications. The study is aimed at determining the prevalence of priapism among adult male SCD patients seen at the university of Benin Teaching Hospital (UBTH), Benin City; to assess their knowledge of the ...

  10. Haematological and clinical profile in Nigerian sickle cell disease ...

    African Journals Online (AJOL)

    Results: The crises frequency and transfusion history (in males) together with the corrected reticulocyte count (in females) were significantly different in SCD patients with CKD, compared to those without (p values<0.05). Conclusion: Kidney disease significantly influences some clinical and haematological parameters in ...

  11. Sickle cell disease in Sierra Leone: a neglected problem | Roberts ...

    African Journals Online (AJOL)

    Eleven (2.4%) were Sickle Cell-HbC disease, median age 14 years. Patients demonstrated many of the typical features of SCD. The most common reason for hospital admission was bone pain crisis associated with an infection, followed by severe anemia. Aseptic necrosis of the femoral head, leg ulcers, septic osteomyelitis ...

  12. Pain management in children with sickle cell disease.

    Science.gov (United States)

    Stinson, Jennifer; Naser, Basem

    2003-01-01

    Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. The disease is characterized by chronic hemolytic anemia, as well as acute and chronic complications. One of the most intractable problems encountered by children with SCD is the painful episode that results from tissue ischemia due to vaso-occlusion. Pain related to SCD is unique among pain syndromes due to the unpredictable, recurrent, and often persistent nature of the disease, as well as the recurring and essential need for the use of opioids. Painful vaso-occlusive episodes (VOE) are a principal cause of morbidity and account for a significant number of emergency department and hospital admissions. When untreated or inadequately managed, the pain of VOE may cause both short- and long-term consequences. Despite the fact that pain is an almost universal feature of the disease, children with SCD may form one of the most undertreated and understudied populations. One of the factors contributing to poor pain management is conflicting perceptions between patients, their families, and healthcare professionals about pain that is reported and analgesia that is required. Pain management guidelines have recently been published in an effort to overcome barriers in the assessment and management of pain related to SCD. Although there is considerable variability in the way SCD pain is managed, the standard treatment protocol for painful episodes has been rest, rehydration, and analgesia. However, pain control for children with SCD is often a difficult and complex process, and one that requires frequent systematic pain assessments and continuous adjustment of comfort measures, especially analgesics. There are a variety of analgesic agents to choose from, such as acetaminophen (paracetamol), oral or parenteral nonsteroidal anti-inflammatory drugs, and oral or parenteral opioids. Each of these options has advantages and disadvantages to their use. Continuous infusions of analgesics and patient

  13. School Performance and Disease Interference in Adolescents with Sickle Cell Disease

    Science.gov (United States)

    Crosby, Lori E.; Joffe, Naomi E.; Irwin, Mary Kay; Strong, Heather; Peugh, James; Shook, Lisa; Kalinyak, Karen A.; Mitchell, Monica J.

    2015-01-01

    Sickle cell disease (SCD) results in neuropsychological complications that place adolescents at higher risk for limited educational achievement. A first step to developing effective educational interventions is to understand the impact of SCD on school performance. The current study assessed perceptions of school performance, SCD interference and…

  14. Soluble CD14 levels reflect liver inflammation in patients with nonalcoholic steatohepatitis.

    Directory of Open Access Journals (Sweden)

    Yuji Ogawa

    Full Text Available BACKGROUND AIMS: Liver inflammation is a risk factor for the progression of nonalcoholic fatty liver disease (NAFLD. However, the diagnosis of liver inflammation is very difficult and invasive liver biopsy is still the only method to reliably detect liver inflammation. We previously reported that overexpression of CD14 in Kupffer cells may trigger the progression to nonalcoholic steatohepatitis (NASH via liver inflammation following hyper-reactivity to low-dose lipopolysaccharide. Therefore, the aim of this study was to investigate the relationship between soluble type of CD14 (sCD14 and histological features in patients with NAFLD. METHODS: Our cohort consisted of 113 patients with liver biopsy-confirmed NAFLD and 21 age-matched healthy controls. Serum sCD14 levels were measured by an enzyme-linked immunosorbent assay. RESULTS: Serum sCD14 levels were significantly associated with diagnosis of NASH and the area under the receiver operator characteristic curve (AUROC to distinguish between not NASH and NASH was 0.802. Moreover, serum sCD14 levels were significantly associated with the disease activity based on NAFLD activity score and hepatic CD14 mRNA expression, which is correlated with membrane CD14 (mCD14 expression, in patients with NAFLD. In multiple regression analysis, the serum sCD14 levels were independently associated with liver inflammation. The AUROC to distinguish between mild and severe liver inflammation in patients with NAFLD was 0.752. CONCLUSIONS: We found that serum sCD14 levels increased significantly with increasing liver inflammation grade in patients with NAFLD, reflecting increased hepatic CD14 expression. Serum sCD14 is a promising tool to predict the worsening of liver inflammation, and may offer a potential biomarker for evaluation of therapeutic effects in NAFLD.

  15. Red blood cell alloimmunization in patients with sickle cell disease in Turkey: a single center retrospective cohort study

    Directory of Open Access Journals (Sweden)

    Soner Solmaz

    2016-12-01

    Results: Of 216 SCD patients included in the study. Alloimmunization was detected in 67 (31.0% out of 216 patients who underwent transfusion, and in 17 (30.4% out of 56 patients in Group 1 and in 50 (31.3% out of 160 patients in Group 2. When the patients were analyzed according to alloimmunization development, our study revealed that neither SCD complications are a risk factor for alloimmunization nor alloimmunization increases mortality rates. Conclusion: High alloimmunization frequency found in our study suggests the insufficient adherence of alloimmunization-prevention policies in RBC transfusions performed except experienced institutions. Therefore alloimmunization may be reduced or prevented through performing extended red cell typing among SCD patients. [Cukurova Med J 2016; 41(4.000: 622-627

  16. Health-related quality of life in sickle cell disease: past, present, and future.

    Science.gov (United States)

    Panepinto, Julie A; Bonner, Melanie

    2012-08-01

    Health-related quality of life (HRQL) is defined as the patient's appraisal of how his/her well being and level of functioning, compared to the perceived ideal, are affected by individual health. The study of HRQL in children and adults with sickle cell disease (SCD) has begun to flourish. Given the devastating complications of the disease and other co-morbid factors patients experience that influence HRQL, it is increasingly important to understand HRQL. The focus of this critical review was to examine past and current research in HRQL in SCD where a validated instrument was used. In addition, future directions for HRQL in SCD are explored. Copyright © 2012 Wiley Periodicals, Inc.

  17. A retrospective review of acupuncture use for the treatment of pain in sickle cell disease patients: Descriptive analysis from a single institution

    Science.gov (United States)

    Lu, Kit; Cheng, M. Jennifer; Ge, Xiaoying; Berger, Ann; Xu, Dihua; Kato, Gregory J.; Minniti, Caterina P

    2014-01-01

    Objectives This retrospective study describes the use of acupuncture for adult sickle cell patients in a single institution. Methods We identified 47 sickle cell disease (SCD) patients referred for acupuncture at the National Institutes of Health between January, 2005 and September, 2011. All patients were enrolled in a Study of the Natural History of SCD and signed consent. We reviewed patient demographics, location of acupuncture treatment sessions (inpatient versus outpatient), number of sessions received, sites of pain, patient pain reporting, and the use of other complementary therapies. Results Of the 47 patients (60% women, median age 36 years) referred for acupuncture, 42 had homozygous SS disease (89%) and 5 had SC disease (11%). Over half of the patients (51%) reported more than 3 sites of pain. Only 24 patients (51%) underwent acupuncture treatment. Of those who elected not to receive acupuncture, a majority (87%) accepted some other forms of complementary therapies. Nine patients underwent only inpatient acupuncture for acute vaso-occlusive crisis (VOC). Eleven patients received only outpatient acupuncture treatment for chronic pain, and four patients received both inpatient and outpatient treatments. For the patients who received inpatient acupuncture treatment for acute VOC, there was a significant reduction of reported pain score immediately after acupuncture treatment with an average pain reduction of 2.1 points on the numeric pain scale (ppain as improved compared to prior session. Discussion To our knowledge, this is the largest retrospective review of acupuncture use in the sickle cell population. This analysis describes the use of acupuncture and raises the possibility of its use as an adjuvant for pain management in this population. Future clinical trials are needed to evaluate acupuncture’s efficacy and effectiveness for pain management in different treatment settings and for various types of pain etiologies among the sickle cell population

  18. Reduced levels of SCD1 accentuate palmitate-induced stress in insulin-producing β-cells

    Directory of Open Access Journals (Sweden)

    Hovsepyan Meri

    2010-09-01

    Full Text Available Abstract Background Stearoyl-CoA desaturase 1 (SCD1 is an ER resident enzyme introducing a double-bond in saturated fatty acids. Global knockout of SCD1 in mouse increases fatty acid oxidation and insulin sensitivity which makes the animal resistant to diet-induced obesity. Inhibition of SCD1 has therefore been proposed as a potential therapy of the metabolic syndrome. Much of the work has focused on insulin target tissue and very little is known about how reduced levels of SCD1 would affect the insulin-producing β-cell, however. The aim of the present study was therefore to investigate how reduced levels of SCD1 affect the β-cell. Results Insulin-secreting MIN6 cells with reduced levels of SCD1 were established by siRNA mediated knockdown. When fatty acid oxidation was measured, no difference between cells with reduced levels of SCD1 and mock-transfected cells were found. Also, reducing levels of SCD1 did not affect insulin secretion in response to glucose. To investigate how SCD1 knockdown affected cellular mechanisms, differentially regulated proteins were identified by a proteomic approach. Cells with reduced levels of SCD1 had higher levels of ER chaperones and components of the proteasome. The higher amounts did not protect the β-cell from palmitate-induced ER stress and apoptosis. Instead, rise in levels of p-eIF2α and CHOP after palmitate exposure was 2-fold higher in cells with reduced levels of SCD1 compared to mock-transfected cells. Accordingly, apoptosis rose to higher levels after exposure to palmitate in cells with reduced levels of SCD1 compared to mock-transfected cells. Conclusions In conclusion, reduced levels of SCD1 augment palmitate-induced ER stress and apoptosis in the β-cell, which is an important caveat when considering targeting this enzyme as a treatment of the metabolic syndrome.

  19. A randomized controlled trial of acupuncture in stable ischemic heart disease patients.

    Science.gov (United States)

    Mehta, Puja K; Polk, Donna M; Zhang, Xiao; Li, Ning; Painovich, Jeannette; Kothawade, Kamlesh; Kirschner, Joan; Qiao, Yi; Ma, Xiuling; Chen, Yii-Der Ida; Brantman, Anna; Shufelt, Chrisandra; Minissian, Margo; Merz, C Noel Bairey

    2014-09-20

    Heart rate variability (HRV) is reduced in stable ischemic heart disease (SIHD) patients and is associated with sudden cardiac death (SCD). We evaluated the impact of traditional acupuncture (TA) on cardiac autonomic function measured by HRV in SIHD patients. We conducted a randomized controlled study of TA, sham acupuncture (SA), and waiting control (WC) in 151 SIHD subjects. The TA group received needle insertion at acupuncture sites, the SA group received a sham at non-acupuncture sites, while the WC group received nothing. The TA and SA groups received 3 treatments/week for 12 weeks. 24-Hour, mental arithmetic stress, and cold pressor (COP) HRV was collected at entry and exit, along with BP, lipids, insulin resistance, hs-CRP, salivary cortisol, peripheral endothelial function by tonometry (PAT), and psychosocial variables. Mean age was 63 ± 10; 50% had prior myocardial infarction. Comparison of WC and SA groups demonstrated differences consistent with the unblinded WC status; therefore by design, the control groups were not merged. Exit mental stress HRV was higher in TA vs. SA for markers of parasympathetic tone (p ≤ 0.025), including a 17% higher vagal activity (p=0.008). There were no differences in exit 24-hour or COP HRV, BP, lipids, insulin resistance, hs-CRP, salivary cortisol, PAT, or psychosocial variables. TA results in intermediate effects on autonomic function in SIHD patients. TA effect on HRV may be clinically relevant and should be explored further. These data document feasibility and provide sample size estimation for a clinical trial of TA in SIHD patients for the prevention of SCD. We conducted a randomized, single-blind trial of traditional acupuncture (TA) vs. sham acupuncture (SA) vs waiting control (WC) in stable ischemic heart disease (SIHD) patients to evaluate cardiac autonomic function measured by heart rate variability (HRV). Exit mental stress HRV was higher in the TA compared to SA group for time and frequency domain markers of

  20. The Clinical Significance of the MIF Homolog D-Dopachrome Tautomerase (MIF-2) and its Circulating Receptor (sCD74) in Burn Injury

    Science.gov (United States)

    Kim, Bong-Sung; Stoppe, Christian; Grieb, Gerrit; Leng, Lin; Sauler, Maor; Assis, David; Simons, David; Boecker, Arne Hendrick; Schulte, Wibke; Piecychna, Marta; Hager, Stephan; Bernhagen, Jürgen; Pallua, Norbert; Bucala, Richard

    2016-01-01

    Background We reported earlier that the cytokine macrophage migration inhibitory factor (MIF) is a potential biomarker in burn injury. In the present study, we investigated the clinical significance in severely burned patients of expression levels the newly discovered MIF family member D-dopachrome tautomerase (DDT or MIF-2) and their common soluble receptor CD74 (sCD74). Methods DDT and sCD74 serum levels were measured 20 severely burned patients and 20 controls. Serum levels were correlated to the abbreviated burn severity index (ABSI) and TBSA followed by receiver operating characteristic (ROC) analysis. Data were supported by gene expression dataset analysis of 31 burn patients and 28 healthy controls. Results CD74 and DDT were increased in burn patients. Furthermore, CD74 and DDT also were elevated in septic non-survivors when compared to survivors. Serum levels of DDT showed a positive correlation with the ABSI and TBSA in the early stage after burn injury, and the predictive character of DDT was strongest at 24 hrs. Serum levels of CD74 only correlated with the ABSI five days post-injury. Conclusions DDT may assist in the monitoring of clinical outcome and prediction of sepsis during the early post-burn period. sCD74 and MIF, by contrast, have limited value as an early predictor of death due to their delayed response to burn injury. PMID:27209369

  1. Alignment of single-case design (SCD) research with individuals who are deaf or hard of hearing with the what Works Clearinghouse standards for SCD research.

    Science.gov (United States)

    Wendel, Erica; Cawthon, Stephanie W; Ge, Jin Jin; Beretvas, S Natasha

    2015-04-01

    The authors assessed the quality of single-case design (SCD) studies that assess the impact of interventions on outcomes for individuals who are deaf or hard-of-hearing (DHH). More specifically, the What Works Clearinghouse (WWC) standards for SCD research were used to assess design quality and the strength of evidence of peer-reviewed studies available in the peer-reviewed, published literature. The analysis yielded four studies that met the WWC standards for design quality, of which two demonstrated moderate to strong evidence for efficacy of the studied intervention. Results of this review are discussed in light of the benefits and the challenges to applying the WWC design standards to research with DHH individuals and other diverse, low-incidence populations. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  2. Protector effect of α-thalassaemia on cholecystitis and cholecystectomy in sickle cell disease.

    Science.gov (United States)

    Pontes, Robéria M; Costa, Elaine S; Siqueira, Patrícia F R; Medeiros, Jussara F F; Soares, Andréa; de Mello, Fabiana V; Maioli, Maria C; Filho, Isaac L S; Alves, Liliane R; Land, Marcelo G P; Fleury, Marcos K

    2017-08-01

    Cholecystitis is one of the complications of symptomatic cholelithiasis responsible for high levels of morbidity of sickle cell disease (SCD) patients. Here, we investigated the possible protective role of single gene deletions of α-thalassaemia in the occurrence of cholelithiasis and cholecystitis in SCD patients, as well as the cholecystectomy requirements. The α-globin genotype was determined in 83 SCD patients using the multiplex-polymerase chain reaction and compared with clinical events. Overall, in 23% of patients, -α 3.7 deletion was found. α-Thalassaemia concomitant to SCD was an independent protective factor to cholecystitis (OR = 0.07; 95% CI: 0.01-0.66; p = 0.020) and cholecystectomy requirement (OR = 0.14; 95% CI: 0.03-0.60; p = 0.008). The risk of cholelithiasis was not affected by the α-thalassaemia concomitance. To the best our knowledge, our study is the first to show the protective effect of α-thalassaemia on cholecystitis and cholecystectomy requirements in SCD, which may be due to an improved splenic function.

  3. Sickle cell disease: reappraisal of the role of foetal haemoglobin ...

    African Journals Online (AJOL)

    Higher HbF levels were positively related to less frequent crisis and were significantly high in SCD patients than in controls. HbF effects on the clinical manifestations on SCD were variable. Conclusion: Threshold values of HbF play a role in reducing the frequency of vaso-occlusive crisis in SCD patients and this finding ...

  4. Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease.

    Science.gov (United States)

    Reid, Marion E; Halter Hipsky, Christine; Hue-Roye, Kim; Hoppe, Carolyn

    2014-04-01

    Red cell (RBC) blood group alloimmunization remains a major problem in transfusion medicine. Patients with sickle cell disease (SCD) are at particularly high risk for developing alloantibodies to RBC antigens compared to other multiply transfused patient populations. Hemagglutination is the classical method used to test for blood group antigens, but depending on the typing methods and reagents used may result in discrepancies that preclude interpretation based on serologic reactivity alone. Molecular methods, including customized DNA microarrays, are increasingly used to complement serologic methods in predicting blood type. The purpose of this study was to determine the diversity and frequency of RH alleles in African Americans and to assess the performance of a DNA microarray for RH allele determination. Two sets of samples were tested: (i) individuals with known variant Rh types and (ii) randomly selected African American donors and patients with SCD. Standard hemagglutination tests were used to establish the Rh phenotype, and cDNA- and gDNA-based analyses (sequencing, PCR-RFLP, and customized RHD and RHCE microarrays were used to predict the genotype). In a total of 829 samples (1658 alleles), 72 different alleles (40 RHD and 32 RHCE) were identified, 22 of which are novel. DNA microarrays detected all nucleotides probed, allowing for characterization of over 900 alleles. High-throughput DNA testing platforms provide a means to test a relatively large number of donors and potentially prevent immunization by changing the way antigen-negative blood is provided to patients. Because of the high RH allelic diversity found in the African American population, determination of an accurate Rh phenotype often requires DNA testing, in conjunction with serologic testing. Allele-specific microarrays offer a means to perform high-throughput donor Rh typing and serve as a valuable adjunct to serologic methods to predict Rh type. Because DNA microarrays test for only a fixed

  5. Chronic diseases among older cancer patients.

    NARCIS (Netherlands)

    Deckx, L.D.; Akker, M.A. van der; Metsemakers, J.M.; Knottnerus, A.K.; Schellevis, F.G.; Buntinx, F.B.

    2011-01-01

    Introduction: With the growing number of older cancer patients, the burden of chronic diseases among older cancer patients will become increasingly important. Chronic diseases often interfere with treatment decisions and prognosis for cancer patients. However, little is known about the occurrence of

  6. Expression and Association of SCD Gene Polymorphisms and Fatty Acid Compositions in Chicken Cross

    Directory of Open Access Journals (Sweden)

    A. Furqon

    2017-12-01

    Full Text Available Stearoyl-CoA desaturase (SCD is an integral membrane protein of endoplasmic reticulum (ER that catalyzes the rate limiting step in the monounsaturated fatty acids from saturated fatty acids. Selection for fatty acids traits based on molecular marker assisted selection is needed to increase a value of chicken meat. This study was designed to analyze expression and associations of SCD gene polymorphisms with fatty acid traits in F2 kampung-broiler chicken cross. A total of 62 F2 kampung-broiler chicken cross (29 males and 33 females were used in this study. Fatty acid traits were measured at 26 weeks of age. Samples were divided into two groups based on fatty acid traits (the highest and the lowest. Primers in exon 2 region were designed from the genomic chicken sequence. The SNP g.37284A>G was detected and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP method was then used to genotype. The expression of SCD gene was analyzed using quantitative real time PCR (qRT-PCR. The result showed that there were three genotypes (AA, AG, and GG found in this study. The SCD|AciI polymorphism was significantly associated with palmitoleic acid (C16:1, fatty acids total and saturated fatty acid in 26 weeks old of F2 kampung-broiler chicken cross (P<0.05. The SCD gene was expressed for polyunsaturated fatty acids in liver tissue in two groups of chickens. In conclusion, the SCD gene could be a candidate gene that affects fatty acids traits in F2 kampung-broiler chicken cross.

  7. Levels of high-density lipoprotein cholesterol (HDL-C among children with steady-state sickle cell disease

    Directory of Open Access Journals (Sweden)

    Seixas Magda O

    2010-08-01

    Full Text Available Abstract Background The search for sickle cell disease (SCD prognosis biomarkers is a challenge. These markers identification can help to establish further therapy, later severe clinical complications and with patients follow-up. We attempted to study a possible involvement of levels of high-density lipoprotein cholesterol (HDL-C in steady-state children with SCD, once that this lipid marker has been correlated with anti-inflammatory, anti-oxidative, anti-aggregation, anti-coagulant and pro-fibrinolytic activities, important aspects to be considered in sickle cell disease pathogenesis. Methods We prospectively analyzed biochemical, inflammatory and hematological biomarkers of 152 steady-state infants with SCD and 132 healthy subjects using immunochemistry, immunoassay and electronic cell counter respectively. Clinical data were collected from patient medical records. Results Of the 152 infants investigated had a significant positive association of high-density lipoprotein cholesterol with hemoglobin (P Conclusions We hypothesize that some SCD patients can have a specific dyslipidemic subphenotype characterized by low HDL-C with hypertriglyceridemia and high VLDL-C in association with other biomarkers, including those related to inflammation. This represents an important step toward a more reliable clinical prognosis. Additional studies are warranted to test this hypothesis and the probably mechanisms involved in this complex network of markers and their role in SCD pathogenesis.

  8. A randomized trial of artesunate-amodiaquine versus artemether-lumefantrine in Ghanaian paediatric sickle cell and non-sickle cell disease patients with acute uncomplicated malaria

    DEFF Research Database (Denmark)

    Adjei, George O; Goka, Bamenla Q; Enweronu-Laryea, Christabel C

    2014-01-01

    . However, there is no information to date, on the efficacy or safety of artemisinin combination therapy when used for malaria treatment in SCD patients. METHODS: Children with SCD and acute uncomplicated malaria (n = 60) were randomized to treatment with artesunate-amodiaquine (AA), or artemether......-lumefantrine (AL). A comparison group of non-SCD children (HbAA genotype; n = 59) with uncomplicated malaria were also randomized to treatment with AA or AL. Recruited children were followed up and selected investigations were done on days 1, 2, 3, 7, 14, 28, 35, and 42. Selected clinical and laboratory parameters...

  9. Family, Community, and Health System Considerations for Reducing the Burden of Pediatric Sickle Cell Disease in Uganda Through Newborn Screening

    Directory of Open Access Journals (Sweden)

    Nancy S. Green MD

    2016-04-01

    Full Text Available Sickle cell disease (SCD is associated with high mortality for children under 5 years of age in sub-Saharan Africa. Newborn sickle screening program and enhanced capacity for SCD treatment are under development to reduce disease burden in Uganda and elsewhere in the region. Based on an international stakeholder meeting and a family-directed conference on SCD in Kampala in 2015, and interviews with parents, multinational experts, and other key informants, we describe health care, community, and family perspectives in support of these initiatives. Key stakeholder meetings, discussions, and interviews were held to understand perspectives of public health and multinational leadership, patients and families, as well as national progress, resource needs, medical and social barriers to program success, and resources leveraged from HIV/AIDS. Partnering with program leadership, professionals, patients and families, multinational stakeholders, and leveraging resources from existing programs are needed for building successful programs in Uganda and elsewhere in sub-Saharan Africa.

  10. Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease

    DEFF Research Database (Denmark)

    Møller, Holger Jon; de Fost, Maaike; Aerts, Hans

    2004-01-01

    Recently, soluble CD163 (sCD163) has been identified as a macrophage/monocyte-specific plasma protein and increased concentrations have been measured in patients with infection and myeloid leukaemia. In the present study we investigated the levels of sCD163 in patients with Gaucher's disease......, an inherited lysosomal storage disorder characterised by hepato- and splenomegaly due to excessive accumulation of macrophages. The sCD163 plasma levels, median (25-75 percentiles), were far above the levels in normal subjects [7.1 mg/L (4.8-10.3) vs. 1.9 mg/L (1.5-2.4), P ... in monitoring disease with increased macrophage activity....

  11. Academic Attainment Findings in Children with Sickle Cell Disease

    Science.gov (United States)

    Epping, Amanda S.; Myrvik, Matthew P.; Newby, Robert F.; Panepinto, Julie A.; Brandow, Amanda M.; Scott, J. Paul

    2013-01-01

    Background: Children with sickle cell disease (SCD) demonstrate deficits in cognitive and academic functioning. This study compared the academic attainment of children with SCD relative to national, state, and local school district rates for African American students. Methods: A retrospective chart review of children with SCD was completed and…

  12. A systematic review of the association between depression and health care utilization in children and adults with sickle cell disease.

    Science.gov (United States)

    Jonassaint, Charles R; Jones, Victor L; Leong, Sharlene; Frierson, Georita M

    2016-07-01

    Patients with sickle cell disease (SCD) experience a disproportionately high use of health care resources. Several studies have examined depression and other negative mood states as risk factors for increased health care utilization; however, there have been no systematic reviews examining and summarizing this evidence in SCD. The aim of this systematic review, therefore, was to determine whether depression or depressive symptoms are associated with health care utilization among children and adults with SCD. We followed a quantitative systematic review protocol based on the Preferred Reporting Items for Systematic Reviews and Meta- Analyses guidelines and performed a literature search of records from January 1980 to April 2014 using six databases. Empirical studies were eligible if the sample was primarily composed of patients with SCD and included data on depression, mood disorder diagnosis or depressive symptoms and health care utilization. We included 12 studies involving 54 036 unique participants. The prevalence estimates for depression ranged from 2-57%. Seven studies found a significant, or marginally significant, association between depression and utilization while five did not. Patients reporting depression had an estimated 2·8 times greater relative risk of being a high utilizer, and 2·9 versus 1·8 hospitalizations per year on average compared to patients without depression. Overall, depressive symptoms are common in SCD and may increase risk for poor outcomes including health care utilization. The available studies on depression in SCD, however, are limited by small sample sizes, retrospective designs or short follow-up. This systematic review found a modest association between depression and health care utilization in SCD. © 2016 John Wiley & Sons Ltd.

  13. [Inpatients days in patients with respiratory diseases and periodontal disease].

    Science.gov (United States)

    Fernández-Plata, Rosario; Olmedo-Torres, Daniel; Martínez-Briseño, David; González-Cruz, Herminia; Casa-Medina, Guillermo; García-Sancho, Cecilia

    2017-01-01

    Periodontal disease is a chronic inflammatory gingival process that has been associated with the severity of respiratory diseases. In Mexico a prevalence of 78% was found in population with social security and > 60 years old. The aim of this study is to establish the association between periodontal disease and respiratory diseases according to the inpatient days. A cross-sectional study was conducted from January to December 2011. We included hospitalized patients, ≥ 18 years of age, without sedation or intubated. A dentist classified patients into two groups according to the severity of the periodontal disease: mild-to-moderate and severe. We estimated medians of inpatient days by disease and severity. Negative binomial models were adjusted to estimate incidence rate ratios and predicted inpatient days. 3,059 patients were enrolled. The median of observed and predicted inpatient days was higher in the group of severe periodontal disease (p disease, tuberculosis, and influenza had the highest incidence rates ratios of periodontal disease (p periodontal disease is positively -associated with inpatient days of patients with respiratory diseases.

  14. Associations among emergency room visits, parenting styles, and psychopathology among pediatric patients with sickle cell.

    Science.gov (United States)

    Latzman, Robert D; Shishido, Yuri; Latzman, Natasha E; Elkin, T David; Majumdar, Suvankar

    2014-10-01

    To examine associations between frequency of emergency room (ER) visits and various parenting styles, both conjointly and interactively, and psychopathological outcomes among pediatric patients with sickle cell disease (SCD). Ninety-eight parents/caregivers of 6- to 18-year-old patients with SCD completed instruments assessing parenting style, child psychopathology, and reported on the frequency of ER visits during the previous year. ER visits were found to significantly explain Withdrawn/Depressed problems and parenting styles were found to incrementally contribute to the explanation of all forms of psychopathology. Further, Permissive parenting was found to explain Rule Breaking Behavior for those patients with low ER visit frequency but not for those with high ER visit frequency. Results of the current study confirm the importance of considering both the frequency of ER visits and parenting style in the explanation of psychopathology among pediatric patients with SCD. Results have important implications for both research and treatment. © 2014 Wiley Periodicals, Inc.

  15. Radiotherapy in patients with connective tissue diseases.

    Science.gov (United States)

    Giaj-Levra, Niccolò; Sciascia, Savino; Fiorentino, Alba; Fersino, Sergio; Mazzola, Rosario; Ricchetti, Francesco; Roccatello, Dario; Alongi, Filippo

    2016-03-01

    The decision to offer radiotherapy in patients with connective tissue diseases continues to be challenging. Radiotherapy might trigger the onset of connective tissue diseases by increasing the expression of self-antigens, diminishing regulatory T-cell activity, and activating effectors of innate immunity (dendritic cells) through Toll-like receptor-dependent mechanisms, all of which could potentially lead to breaks of immune tolerance. This potential risk has raised some debate among radiation oncologists about whether patients with connective tissue diseases can tolerate radiation as well as people without connective tissue diseases. Because the number of patients with cancer and connective tissue diseases needing radiotherapy will probably increase due to improvements in medical treatment and longer life expectancy, the issue of interactions between radiotherapy and connective tissue diseases needs to be clearer. In this Review, we discuss available data and evidence for patients with connective tissue diseases treated with radiotherapy. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Suicide in patients with motor neuron disease

    DEFF Research Database (Denmark)

    Bak, Søren; Stenager, E N; Stenager, Egon

    1994-01-01

    The aim of the present study was to assess, through an epidemiological study, whether suicide risk is increased in patients with motor neuron disease (MND). The study involved 116 patients with MND. In the study period 92 patients died, 47 males and 45 females. No patients committed suicide...

  17. Hepatic disease in patients with Acquired Immunodeficiency ...

    African Journals Online (AJOL)

    Data and opinions from 5 general reviews and 31 original articles from MEDLINE on liver disease in patients with HIV infection regarding aetiology, pathology, presentation and patient evaluation are summarised. The liver is frequently affected in patients with AIDS. The majority of the patients have hepatomegaly and ...

  18. Development, Content Validity, and User Review of a Web-based Multidimensional Pain Diary for Adolescent and Young Adults With Sickle Cell Disease.

    Science.gov (United States)

    Bakshi, Nitya; Stinson, Jennifer N; Ross, Diana; Lukombo, Ines; Mittal, Nonita; Joshi, Saumya V; Belfer, Inna; Krishnamurti, Lakshmanan

    2015-06-01

    Vaso-occlusive pain, the hallmark of sickle cell disease (SCD), is a major contributor to morbidity, poor health-related quality of life, and health care utilization associated with this disease. There is wide variation in the burden, frequency, and severity of pain experienced by patients with SCD. As compared with health care utilization for pain, a daily pain diary captures the breadth of the pain experience and is a superior measure of pain burden and its impact on patients. Electronic pain diaries based on real-time data capture methods overcome methodological barriers and limitations of paper pain diaries, but their psychometric properties have not been formally established in patients with SCD. To develop and establish the content validity of a web-based multidimensional pain diary for adolescents and young adults with SCD and conduct an end-user review to refine the prototype. Following identification of items, a conceptual model was developed. Interviews with adolescents and young adults with SCD were conducted. Subsequently, end-user review with use of the electronic pain diary prototype was conducted. Two iterative cycles of in-depth cognitive interviews in adolescents and young adults with SCD informed the design and guided the addition, removal, and modification of items in the multidimensional pain diary. Potential end-users provided positive feedback on the design and prototype of the electronic diary. A multidimensional web-based electronic pain diary for adolescents and young adults with SCD has been developed and content validity and initial end-user reviews have been completed.

  19. Randomized Trial of Hypnosis as a Pain and Symptom Management Strategy in Adults with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Gwenyth R. Wallen

    2014-01-01

    Full Text Available Sickle cell disease (SCD is the most common genetic disease in African-Americans, characterized by recurrent painful vaso-occlusive crises. Medical therapies for controlling or preventing crises are limited because of efficacy and/or toxicity. This is a randomized, controlled, single-crossover protocol of hypnosis for managing pain in SCD patients. Participants receive hypnosis from a trained hypnosis therapist followed by six weeks of self-hypnosis using digital media. Those in the control arm receive SCD education followed by a six-week waiting period before crossing over to the hypnosis arm of the study. Outcome measures include assessments of pain (frequency, intensity and quality, anxiety, coping strategies, sleep, depression, and health care utilization. To date, there are no published randomized, controlled trials evaluating the efficacy of hypnosis on SCD pain modulation in adults. Self-hypnosis for pain management may be helpful in modulating chronic pain, improving sleep quality, and decreasing use of narcotics in patients with SCD. TRIAL REGISTRATION: ClinicalTrials.gov: NCT00393250

  20. Randomized Trial of Hypnosis as a Pain and Symptom Management Strategy in Adults with Sickle Cell Disease

    Science.gov (United States)

    Wallen, Gwenyth R; Middleton, Kimberly R; Ames, Nancy; Brooks, Alyssa T; Handel, Daniel

    2014-01-01

    Sickle cell disease (SCD) is the most common genetic disease in African-Americans, characterized by recurrent painful vaso-occlusive crises. Medical therapies for controlling or preventing crises are limited because of efficacy and/or toxicity. This is a randomized, controlled, single-crossover protocol of hypnosis for managing pain in SCD patients. Participants receive hypnosis from a trained hypnosis therapist followed by six weeks of self-hypnosis using digital media. Those in the control arm receive SCD education followed by a six-week waiting period before crossing over to the hypnosis arm of the study. Outcome measures include assessments of pain (frequency, intensity and quality), anxiety, coping strategies, sleep, depression, and health care utilization. To date, there are no published randomized, controlled trials evaluating the efficacy of hypnosis on SCD pain modulation in adults. Self-hypnosis for pain management may be helpful in modulating chronic pain, improving sleep quality, and decreasing use of narcotics in patients with SCD. TRIAL REGISTRATION ClinicalTrials.gov: NCT00393250 PMID:25520557

  1. Hemoglobin inhibits albumin uptake by proximal tubule cells: implications for sickle cell disease.

    Science.gov (United States)

    Eshbach, Megan L; Kaur, Amandeep; Rbaibi, Youssef; Tejero, Jesús; Weisz, Ora A

    2017-06-01

    Proximal tubule (PT) dysfunction, including tubular proteinuria, is a significant complication in young sickle cell disease (SCD) that can eventually lead to chronic kidney disease. Hemoglobin (Hb) dimers released from red blood cells upon hemolysis are filtered into the kidney and internalized by megalin/cubilin receptors into PT cells. The PT is especially sensitive to heme toxicity, and tubular dysfunction in SCD is thought to result from prolonged exposure to filtered Hb. Here we show that concentrations of Hb predicted to enter the tubule lumen during hemolytic crisis competitively inhibit the uptake of another megalin/cubilin ligand (albumin) by PT cells. These effects were independent of heme reduction state. The Glu7Val mutant of Hb that causes SCD was equally effective at inhibiting albumin uptake compared with wild-type Hb. Addition of the Hb scavenger haptoglobin (Hpt) restored albumin uptake in the presence of Hb, suggesting that Hpt binding to the Hb αβ dimer-dimer interface interferes with Hb binding to megalin/cubilin. BLAST searches and structural modeling analyses revealed regions of similarity between Hb and albumin that map to this region and may represent sites of Hb interaction with megalin/cubilin. Our studies suggest that impaired endocytosis of megalin/cubilin ligands, rather than heme toxicity, may be the cause of tubular proteinuria in SCD patients. Additionally, loss of these filtered proteins into the urine may contribute to the extra-renal pathogenesis of SCD. Copyright © 2017 the American Physiological Society.

  2. Peripheral arterial disease in patients with chronic obstructive pulmonary disease.

    Science.gov (United States)

    Pecci, R; De La Fuente Aguado, J; Sanjurjo Rivo, A B; Sanchez Conde, P; Corbacho Abelaira, M

    2012-10-01

    Cardiovascular disease (CV) is the second leading cause of morbidity and mortality in chronic obstructive pulmonary disease (COPD). Peripheral arterial disease (PAD) is associated with cardiovascular disease, and its risk factors are common to other atherosclerotic diseases. The objective is to determine the prevalence of PAD in a population of patients with COPD using the ankle / brachial index (ABI) and to investigate the relationship between PAD and lung disease severity. In a prospective cross-sectional study, 246 patients with COPD were recruited. Patients were enrolled consecutively according to their admission to Povisa hospital from September 1, 2008, until March 1, 2010, and were assessed by clinical history, spirometry and ABI. The COPD severity was graded by GOLD criteria in spirometry. Overall, 84 patients (36.8%) had abnormal ABI results and 59 (70.2%) were asymptomatic for PAD. COPD patients with PAD had a higher prevalence of moderate to severe COPD (61.9% vs. 41.7%, P=0.004), lower mean forced expiratory volume in 1 second (FEV1) values (46.7% ± 15 vs. 52.3±14%, P=0.001) and a higher prevalence of hypertension (69% vs. 54.3%, P=0.03) and previous cardiovascular disease (34.5% vs. 21.3%, P=0.03). There was a high prevalence of asymptomatic PAD in the COPD patients we examined. Abnormal ABI results were associated with a higher prevalence of cardiovascular risk factors and more severe lung disease. The diagnosis of peripheral arterial disease in COPD is important because this is an entity that limits the patient's physical activity and impairs their quality of life in addition to turn it into a high cardiovascular risk patient that requiring additional therapeutic measures.

  3. Heart valve disease among patients with hyperprolactinemia

    DEFF Research Database (Denmark)

    Steffensen, Maria Charlotte; Maegbaek, Merete Lund; Laurberg, Peter

    2012-01-01

    Increased risk of heart valve disease during treatment with certain dopamine agonists, such as cabergoline, has been observed in patients with Parkinson's disease. The same compound is used to treat hyperprolactinemia, but it is unknown whether this also associates with heart valve disease....

  4. Metabolic changes in skin caused by Scd1 deficiency: a focus on retinol metabolism.

    Directory of Open Access Journals (Sweden)

    Matthew T Flowers

    Full Text Available We previously reported that mice with skin-specific deletion of stearoyl-CoA desaturase-1 (Scd1 recapitulated the skin phenotype and hypermetabolism observed in mice with a whole-body deletion of Scd1. In this study, we first performed a diet-induced obesity experiment at thermoneutral temperature (33°C and found that skin-specific Scd1 knockout (SKO mice still remain resistant to obesity. To elucidate the metabolic changes in the skin that contribute to the obesity resistance and skin phenotype, we performed microarray analysis of skin gene expression in male SKO and control mice fed a standard rodent diet. We identified an extraordinary number of differentially expressed genes that support the previously documented histological observations of sebaceous gland hypoplasia, inflammation and epidermal hyperplasia in SKO mice. Additionally, transcript levels were reduced in skin of SKO mice for genes involved in fatty acid synthesis, elongation and desaturation, which may be attributed to decreased abundance of key transcription factors including SREBP1c, ChREBP and LXRα. Conversely, genes involved in cholesterol synthesis were increased, suggesting an imbalance between skin fatty acid and cholesterol synthesis. Unexpectedly, we observed a robust elevation in skin retinol, retinoic acid and retinoic acid-induced genes in SKO mice. Furthermore, SEB-1 sebocytes treated with retinol and SCD inhibitor also display an elevation in retinoic acid-induced genes. These results highlight the importance of monounsaturated fatty acid synthesis for maintaining retinol homeostasis and point to disturbed retinol metabolism as a novel contributor to the Scd1 deficiency-induced skin phenotype.

  5. Hodgkin's disease: Analysis of 75 patients

    International Nuclear Information System (INIS)

    Akram, M.; Cheema, M. H.; Sana, S.; Aziz, Z.

    2001-01-01

    Objective: To evaluate patients suffering from Hodgkin's disease to identify its epidemiological characteristics, modalities of treatment and features of survival. Place and Duration of Study: The study was conducted between July 1997 to June 1999 at the Oncology Department of Jinnah Hospital, Lahore. Subjects and Methods: A total 75 patient with Hodgkin's disease underwent Cotswold staging classification, complete hematological, renal and hepatic profile, LDH and uric acid. Chest radiograph abdominal and pelvic ultrasonography and CT scan/MRI bone marrow biopsies. All the patients received combination chemotherapy. Patients with bulky disease received field radiation. Results: Median age was eight ( 18 years). Male to female ratio was 3.5:1, advanced disease accounted for 68%, mixed cellularity was documented in 61% of patients. Eighty-two percent of patients belonged to lower socioeconomic strata. Forty-six patients (65.4%) achieved complete remission (CR) Major toxicities were hematological with febrile neutropenia in 14.6% patients. OS of patients achieving CR with good socioeconomic status was superior compared to patients with lower socioeconomic status (p<0.02). Treatment delays were due to economic constraints, illiteracy, malnutrition and co-morbid conditions. Conclusion: Advanced disease, mixed cellularity and male predominance was common. Socioeconomic status had a significant impact on the presentation of the disease. Poor tolerance to chemotherapy and enhanced toxicities are especially seen in the low socioeconomic group. (author)

  6. Degree of anemia, indirect markers of hemolysis, and vascular complications of sickle cell disease in Africa.

    Science.gov (United States)

    Dubert, Marie; Elion, Jacques; Tolo, Aissata; Diallo, Dapa Aly; Diop, Saliou; Diagne, Ibrahima; Sanogo, Ibrahima; Belinga, Suzanne; Guifo, Odette; Wamba, Guillaume; Ngo Sack, Françoise; Boidy, Kouakou; Kamara, Ismael; Traore, Youssouf; Diakite, Cheick Oumar; Gbonon, Valérie; Faye, Blaise Felix; Seck, Moussa; Deme Ly, Indou; Chelo, David; N'Guetta, Roland; Diop, Ibrahima Bara; Gaye, Bamba; Jouven, Xavier; Ranque, Brigitte

    2017-11-16

    The hyperhemolysis paradigm that describes overlapping "hyperhemolytic-endothelial dysfunction" and "high hemoglobin-hyperviscous" subphenotypes of sickle cell disease (SCD) patients is based on North American studies. We performed a transversal study nested in the CADRE cohort to analyze the association between steady-state hemolysis and vascular complications of SCD among sub-Saharan African patients. In Mali, Cameroon, and Ivory Coast, 2407 SCD patients (1751 SS or sickle β-zero-thalassemia [Sβ 0 ], 495 SC, and 161 sickle β + -thalassemia [Sβ + ]), aged 3 years old and over, were included at steady state. Relative hemolytic intensity was estimated from a composite index derived from principal component analysis, which included bilirubin levels or clinical icterus, and lactate dehydrogenase levels. We assessed vascular complications (elevated tricuspid regurgitant jet velocity [TRV], microalbuminuria, leg ulcers, priapism, stroke, and osteonecrosis) by clinical examination, laboratory tests, and echocardiography. After adjustment for age, sex, country, and SCD phenotype, a low hemoglobin level was significantly associated with TRV and microalbuminuria in the whole population and with leg ulcers in SS-Sβ 0 adults. A high hemolysis index was associated with microalbuminuria in the whole population and with elevated TRV, microalbuminuria, and leg ulcers in SS-Sβ 0 adults, but these associations were no longer significant after adjustment for hemoglobin level. In conclusion, severe anemia at steady state in SCD patients living in West and Central Africa is associated with elevated TRV, microalbuminuria, and leg ulcers, but these vascular complications are not independently associated with indirect markers of increased hemolysis. Other mechanisms leading to anemia, including malnutrition and infectious diseases, may also play a role in the development of SCD vasculopathy. © 2017 by The American Society of Hematology.

  7. [Self-perception of disease in patients with chronic diseases].

    Science.gov (United States)

    Adrián-Arrieta, L; Casas-Fernández de Tejerina, J M

    2017-11-18

    The aim of this study is to assess the self-perception of disease by patients with chronic diseases and determine factors related to their perception of disease. Cross-sectional descriptive study performed between September 2014 and April 2015 in nine (6 urban and 3 rural) Health Centres of Navarra, Spain. The participants were recruited by convenience sampling of 196 patients aged over 65 years with at least one chronic disease. The outcome variable was: Perception of disease evaluated through The Brief Illness Perception Questionnaire (9 items. Assessment of the cognitive and emotional representation of the disease. A higher total score indicates a greater threat of disease to the patient). Explanatory variables: Evaluation of the care received through the Patient Assessment of Chronic Illness Care, Katz index, Gijon's socio-family evaluation scale and quality of life using the EQ5D questionnaire. Other variables studied were: gender, age, education, Charlson index, and number of chronic diseases. The association between the total The Brief Illness Perception Questionnaire value and the rest of the variables was calculated. The self-perception of disease is more negative for a larger number of diseases (rho: 0.242; p=.001), greater patient dependence (rho: -0.193; P=.007), and a poorer self-perceived quality of life (EQ VAS rho: -0.484; Pdisease worsens as their diseases and their dependence increase, and also worsens their quality of life. Copyright © 2017 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Sickle Cell Disease: Management options and challenges in developing countries

    Directory of Open Access Journals (Sweden)

    Daniel Ansong

    2013-11-01

    Full Text Available Sickle Cell Disease (SCD is the most common genetic disorder of haemoglobin in sub-Saharan Africa. This commentary focuses on the management options available and the challenges that health care professionals in developing countries face in caring for patients with SCD. In developing countries like Ghana, newborn screening is now being implemented on a national scale.  Common and important morbidities associated with SCD are vaso-occlusive episodes, infections, Acute Chest Syndrome (ACS, Stroke and hip necrosis. Approaches to the management of these morbidities are far advanced in the developed countries. The differences in setting and resource limitations in developing countries bring challenges that have a major influence in management options in developing countries. Obviously clinicians in developing countries face challenges in managing SCD patients. However understanding the disease, its progression, and instituting the appropriate preventive methods are paramount in its management. Emphasis should be placed on newborn screening, anti-microbial prophylaxis, vaccination against infections, and training of healthcare workers, patients and caregivers. These interventions are affordable in developing countries.

  9. Myocardial ischaemia in children with sickle cell disease.

    Science.gov (United States)

    de Montalembert, M; Maunoury, C; Acar, P; Brousse, V; Sidi, D; Lenoir, G

    2004-04-01

    The heart may be involved in children affected with sickle cell disease (SCD) via several mechanisms. Principally, chronic anaemia increases cardiac output and may cause left ventricular enlargement and cardiac insufficiency. To investigate whether the heart also suffers from ischaemia in SCD, as has already been shown for other organs (bone, brain, etc), and to look for risk factors predisposing to this complication. Twenty two children with SCD, and chest pain or ECG or echocardiographic signs (left ventricle dilation or hypokinesis) suggesting myocardial ischaemia were subjected to thallium-201 (201Tl) single photon emission computed tomography (SPECT). Eight children had a normal SPECT, 14 an abnormal one. Myocardial perfusion defects were reversible in nine, fixed in five. Patients with perfusion defects tended to be older and have more severe disease. Five had had cardiac symptoms (episodes of cardiac failure in three, ventricular fibrillation in one, angina in one). Myocardial perfusion was reassessed after six months of hydroxyurea treatment in three patients, and was found to be improved. Myocardial perfusion defects are present in children with SCD and may be demonstrated using SPECT. Hydroxyurea improved perfusion in three patients.

  10. Cholestasis and hypercholesterolemia in SCD1-deficient mice fed a low-fat, high-carbohydrate diet

    NARCIS (Netherlands)

    Flowers, Matthew T.; Groen, Albert K.; Oler, Angie Tebon; Keller, Mark P.; Choi, YounJeong; Schueler, Kathryn L.; Richards, Oliver C.; Lan, Hong; Miyazaki, Makoto; Kuipers, Folkert; Kendziorski, Christina M.; Ntambi, James M.; Attie, Alan D.

    2006-01-01

    Stearoyl-coenzyme A desaturase 1-deficient (SCD1(-/-)) mice have impaired MUFA synthesis. When maintained on a very low-fat (VLF) diet, SCD1(-/-) mice developed severe hypercholesterolemia, characterized by an increase in apolipoprotein B (apoB)-containing lipoproteins and the appearance of

  11. Soluble CD163 levels in children with sickle cell disease

    DEFF Research Database (Denmark)

    Moller, Holger Jon; Nielsen, Marianne Jensby; Bartram, Jack

    2011-01-01

    Sickle cell disease (SCD) is characterized by vasculopathy, which has been causally linked to intravascular haemolysis and high levels of free plasma haemoglobin. Soluble CD163 (sCD163) is implicated in the clearance of free plasma haemoglobin and high plasma concentrations have been linked...... to arterial disease. We therefore investigated the value of sCD163 as a biomarker in children with SCD, and also measured haptoglobin levels in this population. We measured sCD163 in 25 control children with no haemoglobinopathy, 41 with sickle cell anaemia (HbSS) in the steady state, 27 with HbSS taking...

  12. Influence of βS-Globin Haplotypes and Hydroxyurea on Arginase I Levels in Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    J. A. Moreira

    2016-01-01

    Full Text Available Introduction. Sickle cell disease (SCD is characterized by hemoglobin S homozygosity, leading to hemolysis and vasoocclusion. The hemolysis releases arginase I, an enzyme that decreases the bioavailability of nitric oxide, worsening the symptoms. The different SCD haplotypes are related to clinical symptoms and varied hemoglobin F (HbF concentration. The aim of this study was to evaluate the impact of the βS gene haplotypes and HbF concentration on arginase I levels in SCD patients. Methods. Fifty SCD adult patients were enrolled in the study and 20 blood donors composed the control group. Arginase I was measured by ELISA. The βS haplotypes were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP. Statistical analyses were performed with GraphPad Prism program and the significance level was p<0.05. Results. Significant increase was observed in the arginase I levels in SCD patients compared to the control group (p<0.0001. The comparison between the levels of arginase I in three haplotypes groups showed a difference between the Bantu/Bantu × Bantu/Benin groups; Bantu/Bantu × Benin/Benin, independent of HU dosage. An inverse correlation with the arginase I levels and HbF concentration was observed. Conclusion. The results support the hypothesis that arginase I is associated with HbF concentration, also measured indirectly by the association with haplotypes.

  13. Intracranial 4D flow magnetic resonance imaging reveals altered haemodynamics in sickle cell disease.

    Science.gov (United States)

    Václavů, Lena; Baldew, Zelonna A V; Gevers, Sanna; Mutsaerts, Henri J M M; Fijnvandraat, Karin; Cnossen, Marjon H; Majoie, Charles B; Wood, John C; VanBavel, Ed; Biemond, Bart J; van Ooij, Pim; Nederveen, Aart J

    2018-02-01

    Stroke risk in children with sickle cell disease (SCD) is currently assessed with routine transcranial Doppler ultrasound (TCD) measurements of blood velocity in the Circle of Willis (CoW). However, there is currently no biomarker with proven prognostic value in adult patients. Four-dimensional (4D) flow magnetic resonance imaging (MRI) may improve risk profiling based on intracranial haemodynamics. We conducted neurovascular 4D flow MRI and blood sampling in 69 SCD patients [median age 15 years (interquartile range, IQR: 12-50)] and 14 healthy controls [median age 21 years (IQR: 18-43)]. We measured velocity, flow, lumen area and endothelial shear stress (ESS) in the CoW. SCD patients had lower haematocrit and viscosity, and higher velocity, flow and lumen area, with lower ESS compared to healthy controls. We observed significant age-related decline in haemodynamic 4D flow parameters; velocity (Spearman's ρ = -0·36 to -0·61), flow (ρ = -0·26 to -0·52) and ESS (ρ = -0·14 to -0·54) in SCD patients. Further analysis in only adults showed that velocity values were similar in SCD patients compared to healthy controls, but that the additional 4D flow parameters, flow and lumen area, were higher, and ESS lower, in the SCD group. Our data suggest that 4D flow MRI may identify adult patients with an increased stroke risk more accurately than current TCD-based velocity. © 2017 John Wiley & Sons Ltd.

  14. Blood transfusion and 30-day readmission rate in adult patients hospitalized with sickle cell disease crisis.

    Science.gov (United States)

    Nouraie, Mehdi; Gordeuk, Victor R

    2015-10-01

    Sickle cell disease (SCD) patients hospitalized with vasoocclusive pain crisis tend to have prolonged length of stay (LOS) and high 30-day readmission rates. We investigated the associations of demographic characteristics, comorbidities, and blood transfusion during hospitalization with these outcomes. Repeated regression analysis was used to analyze 39,324 admissions of 4348 adults with sickle cell crisis from 2007 to 2012 in the Truven Health MarketScan Medicaid Databases. The mean (95% range) LOS was 5.9 (1.0-19.0) days and the 30-day readmission rate was 39.6% (95% confidence interval [CI], 39.1%-40.0%). Older age; chronic cardiopulmonary, renal, or liver disease; and sepsis were associated with both longer LOS and greater 30-day readmission rate. Female sex, iron overload, acute chest syndrome, acute renal failure, and stroke were additional predictors of longer LOS. Simple red blood cell transfusion was administered in 31.8% of the admissions, and these patients tended to have more severe disease (chronic cardiopulmonary or kidney disease, acute chest syndrome, acute kidney or liver failure, sepsis). Nevertheless, transfusion was associated with a reduced estimated odds ratio (OR) of inpatient mortality of 0.75 (95% CI, 0.57-0.99) and a decreased OR of 30-day readmission of 0.78 (95% CI, 0.73-0.83). Our findings point to blood transfusion as a potential means to reduce the 30-day readmission rate among Medicaid patients hospitalized with sickle cell crisis. There is a need for a prospective study to examine the potential benefit and safety of simple blood transfusion for this purpose. © 2015 AABB.

  15. Cerebrovascular profile assessment in Parkinson's disease patients.

    Science.gov (United States)

    Perju-Dumbravă, Laura; Muntean, Maria-Lucia; Muresanu, Dafin Fior

    2014-01-01

    Parkinson's disease (PD) is one of the most common neurodegenerative diseases, and PD patients can present a variety of comorbidities that increase with age. Among them, cardiovascular and cerebrovascular diseases are the most prominent. To assess the cardiovascular and cerebrovascular profiles of PD patients. The cardiovascular risk factors of 126 PD patients were assessed according to laboratory tests (fasting blood sugar, serum cholesterol, triglycerides, and total lipids), Doppler ultrasound examinations and personal histories of cerebrovascular disease (ischemic/hemorrhagic), cardiovascular disease (myocardial infarct or angina confirmed by electrocardiogram), hypertension and diabetes. All patients underwent cerebral structural imaging procedures: computed tomography or magnetic resonance imaging. 58.73% of the patients presented with hypertension, with a slight predominance of female patients (65.38% vs 47.92%, P = 0.05). Carotid or vertebral atheromatosis was present in 39 (30.95%) and 28 (22.22%) of patients, respectively, and was statistically correlated with the presence of ischemic lesions on cerebral imaging. Regarding the computed tomography findings, 33 patients (28.21%) presented with cortical atrophy that was not correlated with any of the investigated cardiovascular factors. Our findings indicate that risk factors for cardiovascular and cerebrovascular diseases are common in PD patients, possibly due to their older age. The presence of atherosclerosis and its complications can be detected in cerebral imaging studies.

  16. Alloimmunization in multitransfused liver disease patients: Impact of underlying disease

    Directory of Open Access Journals (Sweden)

    Meenu Bajpai

    2016-01-01

    Full Text Available Introduction: Transfusion support is vital to the management of patients with liver diseases. Repeated transfusions are associated with many risks such as transfusion-transmitted infection, transfusion immunomodulation, and alloimmunization. Materials and Methods: A retrospective data analysis of antibody screening and identification was done from February 2012 to February 2014 to determine the frequency and specificity of irregular red-cell antibodies in multitransfused liver disease patients. The clinical and transfusion records were reviewed. The data was compiled, statistically analyzed, and reviewed. Results: A total of 842 patients were included in our study. Alloantibodies were detected in 5.22% of the patients. Higher rates of alloimmunization were seen in patients with autoimmune hepatitis, cryptogenic liver disease, liver damage due to drugs/toxins, and liver cancer patients. Patients with alcoholic liver disease had a lower rate of alloimmunization. The alloimmunization was 12.7% (23/181 in females and 3.17% (21/661 in males. Antibodies against the Rh system were the most frequent with 27 of 44 alloantibodies (61.36%. The most common alloantibody identified was anti-E (11/44 cases, 25%, followed by anti-C (6/44 cases, 13.63%. Conclusion: Our findings suggest that alloimmunization rate is affected by underlying disease. Provision of Rh and Kell phenotype-matched blood can significantly reduce alloimmunization.

  17. Multimorbidity in Older Patients with Cardiovascular Disease.

    Science.gov (United States)

    Dunlay, Shannon M; Chamberlain, Alanna M

    2016-01-01

    Multimorbidity affects more than two thirds of older individuals and the vast majority of patients with chronic cardiovascular disease. Patients with multimorbidity have high resource utilization, poor mobility, and poor health status and are at an increased risk for death. The presence of multimorbidity imposes numerous management challenges in caring for patients with chronic cardiovascular disease. It complicates decision-making, promotes fragmented care, and imposes an immense burden on the patient and their social support system. Novel models of care, such as the cardiovascular patient-centered medical home, are needed to provide high-quality, efficient, effective care to this growing population.

  18. Erythrocyte Aggregation and Blood Viscosity is Similar in Homozygous Sickle Cell Disease Patients with and without Leg Ulcers.

    Science.gov (United States)

    Bowers, Andre S A; Duncan, Walworth W; Pepple, D J

    2018-03-01

    Background  There is no consensus regarding the role of red blood cell (RBC) aggregation in the pathogenesis of leg ulcers (LUs) in sickle cell disease (SCD). Objectives  We sought to evaluate whether the cross-sectional determination of RBC aggregation and hematological indices were associated with the presence of LU in homozygous SCD. Methods  Twenty-seven patients with LU and 23 with no history of ulceration were recruited into the study. A laser-assisted rotational red cell analyzer (LoRRca) was used in the determination of the aggregation index (AI), aggregation half-time ( t 1/2 ), and the RBC aggregate strength (AMP). Hematological indices were determined using a CELL-DYN Ruby analyzer. Whole blood viscosity (WBV) and plasma viscosity (PV) were measured using a Vilastic bioprofiler. The data were presented as means ± standard deviation or median, interquartile range. Two-sample t -test was used to test for associations between the AIs, WBV, and PV in patients with and without LU. Statistical significance was taken as p  < 0.05. All analyses were conducted using Stata/SE v . 12.1 (StataCorp, College Station, TX). Results  The AI was comparable in the group with and without ulcers (68.6, 16.7 versus 67.7, 16.9; p  = 0.74); t 1/2 (1.7, 1.3 versus 1.8, 1.3; p  = 0.71); AMP (18.8, 14.5 versus 19.1, 13.3; p  = 0.84), WBV (3.8, 1.2 versus 3.8, 0.7; p  = 0.77); and the PV (1.3, 0.08 versus 1.4, 0.1; p  = 0.31) and were also not statistically different between the groups of participants. Conclusion  RBC aggregation and aggregate strength are not associated with leg ulceration in SCD.

  19. The Association between Monocyte Surface CD163 and Insulin Resistance in Patients with Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Reina Kawarabayashi

    2017-01-01

    Full Text Available Aim. To investigate the association between monocyte CD163 and insulin resistance in patients with type 2 diabetes. Methods. One hundred sixty-six patients with type 2 diabetes without inflammatory or chronic kidney disease were recruited. The monocyte CD163 levels were measured by flow cytometry and soluble CD163 (sCD163 by ELISA. Insulin resistance was evaluated by the index of the homeostasis model assessment (HOMA-R. Results. The median sCD163 and monocyte CD163 expression levels were 582.9 (472.4–720.0 ng/ml and 6061 (4486–7876 mean fluorescent intensity (MFI, respectively. In a simple regression analysis, monocyte CD163 was inversely correlated with log [HOMA-R] (r=–0.257, p=0.010, and sCD163 was positively correlated with log [HOMA-R] (r=0.198, p=0.042. In multiple regression analyses, monocyte CD163 was an independent contributor to log [HOMA-R] (β=–0.220, p=0.020 even after adjustment of various clinical factors for HOMA-R (R2=0.281, p=0.001, whereas sCD163 was not. Conclusions. Monocyte surface CD163 expression levels were more significantly associated with insulin resistance than sCD163 in patients with type 2 diabetes, suggesting a novel pathophysiological role of CD163.

  20. Nutritional modification of SCD, ACACA and LPL gene expressions in different ovine tissues

    Directory of Open Access Journals (Sweden)

    K. Ropka-Molik

    2017-07-01

    Full Text Available Fatty acid composition is one of the main factors affecting health benefits of food. Stearoyl-CoA desaturase 1 (SCD, acetyl-CoA carboxylase alpha (ACACA and lipoprotein lipase (LPL have been considered as the rate-limiting enzymes in the biosynthesis of different fatty acids critical in lipid metabolism. The aim of our study was the analysis of differences in expression profiles of three ovine genes related to lipid metabolism (LPL, ACACA, SCD depending on feeding system and tissue type. The gene expression measurement was performed using a real-time PCR method on 60 old-type Polish Merino Sheep, which were divided into three feeding groups (I – complete pellet mixture, n =  12; II – complete mixture with addition of fresh grass, n =  24; III – complete mixture with addition of fresh red clover, n =  24. From all lambs, tissue samples – subcutaneous fat, perirenal fat and liver – were collected immediately after slaughter and LPL, ACACA and SCD expression was estimated based on two endogenous controls (RPS2 – ribosomal protein S2; ATP5G2 – H(+-transporting ATP synthase. Our research indicated that supplementation of diet with an addition of fresh grass or red clover significantly (P < 0.05 decreased the expression of SCD, ACACA and LPL genes in fat tissue compared to standard complete pelleted mixture. On the other hand, the highest expression of ACACA was detected in liver tissue collected from sheep fed a diet with an addition of fresh red clover (P < 0.05. In turn, the highest expression of the SCD gene was detected in animals fed with grass supplementation (P < 0.05. Regardless of diet supplementation, the highest SCD transcript abundance was detected in perirenal fat, while LPL and ACACA expression was the highest in both perirenal and subcutaneous fat. The ability of nutrigenomic regulation of transcription of analyzed genes confirmed that these genes play a critical role in regulation of lipid

  1. Symptoms of Depression and Anxiety in Adolescents with Sickle Cell Disease: The Role of Intrapersonal Characteristics and Stress Processing Variables

    Science.gov (United States)

    Simon, Katherine; Barakat, Lamia P.; Patterson, Chavis A.; Dampier, Carlton

    2009-01-01

    Sickle cell disease (SCD) complications place patients at risk for poor psychosocial adaptation, including depression and anxiety symptoms. This study aimed to test a mediator model based on the Risk and Resistance model to explore the role of intrapersonal characteristics and stress processing variables in psychosocial functioning. Participants…

  2. Impairment of myocardial perfusion in children with sickle cell disease

    International Nuclear Information System (INIS)

    Maunoury, C.; Acar, P.; Montalembert, M. de

    2003-01-01

    While brain, bone and spleen strokes are well documented in children with sickle cell disease (SCD), impairment of myocardial perfusion is an unknown complication. Non invasive techniques such as exercise testing and echocardiography have a low sensitivity to detect myocardial ischemia in patients with SCD. We have prospectively assessed myocardial perfusion with Tl-201 SPECT in 23 patients with SCD (10 female, 13 male, mean age 12 ± 5 years). Myocardial SPECT was performed after stress and 3 hours later after reinjection on a single head gamma camera equipped with a LEAP collimator (64 x 64 matrix size format, 30 projections over 180 deg C, 30 seconds per step). Left ventricular ejection fraction (LVEF) was assessed by equilibrium radionuclide angiography at rest on the same day. Myocardial perfusion was impaired in 14/23 patients: 9 reversible defects and 5 fixed defects. The left ventricular cavity was dilated in 14/23 patients. The mean LVEF was 63 ± 9%. There was no relationship between myocardial perfusion and left ventricular dilation or function. The frequent impairment of myocardial perfusion in children with SCD could lead to suggest a treatment with hydroxyurea, an improvement of perfusion can be noted with hydroxyurea. (author)

  3. The spectrum of sickle hemoglobin-related nephropathy: from sickle cell disease to sickle trait.

    Science.gov (United States)

    Naik, Rakhi P; Derebail, Vimal K

    2017-12-01

    Renal dysfunction is among the most common complication of sickle cell disease (SCD), from hyposthenuria in children to progression to overt chronic kidney disease (CKD) in young adults. Emerging evidence now suggests that sickle hemoglobin-related nephropathy extends to individuals with sickle cell trait (SCT). Areas covered: This review will highlight the pathophysiology, epidemiology, and management recommendations for sickle hemoglobin-related nephropathy in both SCD and SCT. In addition, it will focus on the major demographic and genetic modifiers of renal disease in sickling hemoglobinopathies. Expert commentary: Studies have elucidated the course of renal disease in SCD; however, the scope and age of onset of renal dysfunction in SCT has yet to be determined. In SCD, several modifiers of renal disease - such as α-thalassemia, hemoglobin F, APOL1 and HMOX1 - have been described and provide an opportunity for a precision medicine approach to risk stratify patients who may benefit from early intervention. Extrapolating from this literature may also provide insight into the modifiers of renal disease in SCT. Further studies are needed to determine the optimal treatment for sickle hemoglobin-related nephropathy.

  4. Adult congenital heart disease: the patient's perspective.

    Science.gov (United States)

    Verstappen, Amy; Pearson, Disty; Kovacs, Adrienne H

    2006-11-01

    This article presents the adult congenital heart disease (ACHD) patient "voice" by high-lighting issues and challenges commonly identified in peer support forums but rarely addressed in the existing literature. Representative patient quotations are provided, and relevant research on patient education and psychosocial function is referenced. Issues discussed include the provision of overly pessimistic and overly optimistic prognoses, common patient misperceptions and knowledge gaps, frustrations and dangerous encounters in the medical system, and living with invisible disabilities. Patient self-perception of congenital heart disease, the gifts of congenital heart disease, and the role of patient associations are also discussed. For each issue identified, implications for the ACHD health professional are outlined and recommendations for best practices are made.

  5. Knowledge insufficient: the management of haemoglobin SC disease.

    Science.gov (United States)

    Pecker, Lydia H; Schaefer, Beverly A; Luchtman-Jones, Lori

    2017-02-01

    Although haemoglobin SC (HbSC) accounts for 30% of sickle cell disease (SCD) in the United States and United Kingdom, evidence-based guidelines for genotype specific management are lacking. The unique pathology of HbSC disease is complex, characterized by erythrocyte dehydration, intracellular sickling and increased blood viscosity. The evaluation and treatment of patients with HbSC is largely inferred from studies of SCD consisting mostly of haemoglobin SS (HbSS) patients. These studies are underpowered to allow definitive conclusions about HbSC. We review the pathophysiology of HbSC disease, including known and potential differences between HbSS and HbSC, and highlight knowledge gaps in HbSC disease management. Clinical and translational research is needed to develop targeted treatments and to validate management recommendations for efficacy, safety and impact on quality of life for people with HbSC. © 2016 John Wiley & Sons Ltd.

  6. Usefulness of microvolt T-wave alternans for predicting outcome in patients with Chagas disease with implantable cardioverter defibrillators.

    Science.gov (United States)

    Barbosa, Marco Paulo Tomaz; da Costa Rocha, Manoel Otávio; Neto, Elson Santos; Brandão, Fernando Vieira; Lombardi, Federico; Ribeiro, Antonio Luiz Pinho

    2016-11-01

    Chagas disease (ChD) may lead to life-threatening heart disease, including malignant ventricular arrhythmias. The use of implantable cardioverter defibrillators (ICDs) has become the main therapeutic strategy for secondary prevention of SCD in Chagas disease (ChD). Microvolt T-wave alternans (MTWA) is a direct measure of ventricular repolarization instability and has emerged as a potentially useful way of determining arrhythmia vulnerability. However, this methodology has not been evaluated in patients with ChD. To evaluate the predictive value of MTWA testing for appropriate therapy or death in ChD patients with ICDs. This prospective study included consecutive patients who received ICD implantations in a Brazilian tertiary referral center. Seventy-two patients were followed for a median time of 422 (range 294-642) days. Thirty-three patients had ChD. The MTWA was non-negative (positive or indeterminate) in 27 (81.8%) of ChD patients. The combined primary outcome (appropriate ICD therapy or death) occurred in 29 patients (40.3%); 17 out 33 ChD patients presented the primary outcome. There was a statistically significant difference in event-free survival between ChD patients with negative and non-negative MTWA results (p=0.02). Non-negative MTWA tests nearly triple the risk of appropriate ICD therapy or death (HR=2.7, 95% CI: 1.7-4.4, p=0.01) in patients with ChD and was the only variable associated with outcomes. The sensitivity and the negative predictive value was 100% in ChD patients. MTWA may be useful in recognizing high-risk ICD patients who may require adjunctive therapies with antiarrhythmic drugs or catheter ablation. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  7. The impact of preparation and support procedures for children with sickle cell disease undergoing MRI

    Energy Technology Data Exchange (ETDEWEB)

    Cejda, Katherine R. [St. Jude Children' s Research Hospital, Child Life Program, Memphis, TN (United States); Smeltzer, Matthew P. [St. Jude Children' s Research Hospital, Department of Biostatistics, Memphis, TN (United States); Hansbury, Eileen N. [Baylor International Hematology Center of Excellence and the Texas Children' s Center for Global Health, Houston, TX (United States); McCarville, Mary Elizabeth; Helton, Kathleen J. [St. Jude Children' s Research Hospital, Department of Radiological Sciences, Memphis, TN (United States); Hankins, Jane S. [St. Jude Children' s Research Hospital, Department of Hematology, Memphis, TN (United States)

    2012-10-15

    Children with sickle cell disease (SCD) often undergo MRI studies to assess brain injury or to quantify hepatic iron. MRI requires the child to lie motionless for 30-60 min, thus sedation/anesthesia might be used to facilitate successful completion of exams, but this poses additional risks for SCD patients. To improve children's ability to cope with MRI examinations and avoid sedation, our institution established preparation and support procedures (PSP). To investigate the impact of PSP in reducing the need for sedation during MRI exams among children with SCD. Data on successful completion of MRI testing were compared among 5- to 12-year-olds who underwent brain MRI or liver R2*MRI with or without receiving PSP. Seventy-one children with SCD (median age 9.85 years, range 5.57-12.99 years) underwent a brain MRI (n = 60) or liver R2*MRI (n = 11). Children who received PSP were more likely to complete an interpretable MRI exam than those who did not 30 of 33; 91% vs. 27 of 38; 71%, unadjusted OR = 4.1 (P = 0.04) and OR = 8.5 (P < 0.01) when adjusting for age. PSP can help young children with SCD complete clinically interpretable, nonsedated MRI exams, avoiding the risks of sedation/anesthesia. (orig.)

  8. Potential association between coronary artery disease and the inflammatory biomarker YKL-40 in asymptomatic patients with type 2 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Kim Hyun

    2012-07-01

    Full Text Available Abstract Background Inflammation plays an important role in coronary artery disease from the initiation of endothelial dysfunction to plaque formation to final rupture of the plaque. In this study, we investigated the potential pathophysiological and clinical relevance of novel cytokines secreted from various cells including adipocytes, endothelial cells, and inflammatory cells, in predicting coronary artery disease (CAD in asymptomatic subjects with type 2 diabetes mellitus. Methods We enrolled a total of 70 asymptomatic type 2 diabetic patients without a documented history of cardiovascular disease, and determined serum levels of chemerin, omentin-1, YKL-40, and sCD26. We performed coronary computed tomographic angiography (cCTA in all subjects, and defined coronary artery stenosis ≥ 50 % as significant CAD in this study. Results Subjects were classified into two groups: patients with suspected coronary artery stenosis on cCTA (group I, n = 41 and patients without any evidence of stenosis on cCTA (group II, n = 29. Group I showed significantly higher YLK-40 levels and lower HDL-C levels than group II (p = 0.038, 0.036, respectively. Levels of chemerin, omentin-1, and sCD26 were not significantly different between the two groups. Serum YKL-40 levels were positively correlated with systolic/diastolic BP, fasting/postprandial triglyceride levels, and Framingham risk score. Furthermore, YKL-40 levels showed moderate correlation with the degree of coronary artery stenosis and the coronary artery calcium score determined from cCTA. In multivariate logistic analysis, after adjusting for age, gender, smoking history, hypertension, and LDL-cholesterol, YLK-40 levels showed only borderline significance. Conclusions YKL-40, which is secreted primarily from inflammatory cells, was associated with several CVD risk factors and was elevated in type 2 diabetic patients with suspected coronary artery stensosis on cCTA. These results suggest

  9. Psychiatric Disorders in a Sample of Saudi Arabian Adolescents with Sickle Cell Disease

    Science.gov (United States)

    Amr, Mostafa Abdel-Monhem; Amin, Tarek Tawfik; Hablas, Hatem Refaat

    2010-01-01

    The objectives of this study were to determine the magnitude of psychiatric disorders and to define socio-demographic and disease-related risk factors in a sample of adolescents with SCD in Al-Hassa, Saudi Arabia. The sample consisted of 110 adolescents with SCD and a convenient sample of 202 adolescents without SCD as controls. Psychiatric…

  10. African American Adolescents with Sickle Cell Disease: Support Groups and Psychological Well-Being.

    Science.gov (United States)

    Gardner, Marilyn M.; Telfair, Joseph

    1999-01-01

    Studied the impact of support groups on the psychological well-being of adolescents with sickle cell disease (SCD). Response of 79 adolescent SCD group members show that psychological well-being was best predicted by fewer physical symptoms and greater satisfaction with the group. Findings suggest the beneficial effects of SCD support groups. (SLD)

  11. C-reactive Protein and Disease Outcome in Nigerian Sickle Cell ...

    African Journals Online (AJOL)

    Background: Evidence suggests that sickle cell disease (SCD) is associated with a chronic inflammatory state. C.reactive protein (CRP) is known to modulate inflammation. Its role in the chronic inflammation of SCD may make it valuable as a therapeutic target. Aim: The aim was to determine CRP levels in SCD subjects in ...

  12. Pentazocine dependence among sickle cell disease patients ...

    African Journals Online (AJOL)

    Introduction: Sickle cell disease is a chronic disease. Severe bone pain is commonly the hallmark of clinical features. This commonly necessitates the use of analgesics especially Opioids which unfortunately have a high potential to produce dependence. The complications of dependence in patients on any psychoactive ...

  13. Treatment options for patients with Gaucher disease

    African Journals Online (AJOL)

    Rabah M. Shawky

    2016-02-28

    Feb 28, 2016 ... treatment – was approved for Gaucher disease. Future therapeutic modalities will include pharmacological chaperon and possibly gene therapy. The aim of this review is to high light the current and future treatment options for patients with. Gaucher disease and to compare their effects and side effects.

  14. SCD1 Orbit Determination System: Pre-launch preparation, LEOP performance and routine operations

    Science.gov (United States)

    Kuga, Helio Koiti; Rao, Kondapalli Rama

    This paper presents a complete overview of the Orbit Determination System (ODS) software developed by the flight dynamics group of the Division of Space Mechanics and Control (DMC) of the Brazilian Institute for Space Research (INPE) for the first Brazilian satellite SCD1. The paper is divided into four parts. The first part explains in brief the SCD1 mission, its ground and space segments and the principal characteristics of its launch system. The second part, i.e. the pre-launch preparation of the software, describes the structure of the ODS adopted for SCD1, and includes a brief history of its development, of its testing with real data of foreign satellites, and of its assessment through the comparison of accuracies obtained. The third part, i.e. the Launch and Early Orbit Phase (LEOP) performance, narrates the experience of the flight dynamics group on the fateful day of the launch: all the odds against the process of orbit determination in terms of lack of enough tracking data, failure of the launch vehicle staff in providing the injection information, last minute modifications of the flight plan, and a few hours of anxiety which preceded the successful follow-up of the mission. The fourth part, i.e. the routine operations part, explains the methodology adopted for using the ODS in day-to-day operations, the accuracy in extended pass-predictions for the Brazilian tracking stations, and the overall performance of the ODS for SCD1. In addition, one also comments about the necessary modifications made during the routine operations along time and possible future improvements to be introduced in the software for the upcoming missions.

  15. Study of Seminal Fluid Parameters and Fertility of Male Sickle Cell Disease Patients and Potential Impact of Hydroxyurea Treatment.

    Science.gov (United States)

    Sahoo, Lulup Kumar; Kullu, Bipin Kishore; Patel, Siris; Patel, Nayan Kumar; Rout, Pragyan; Purohit, Prasanta; Meher, Satyabrata

    2017-06-01

    Male Sickle cell disease (SCD) patients often have moderate to severe hypogonadism resulting in abnormal seminal fluid parameters due to testicular dysfunction. Hydroxyurea (HU), the only drug found to be effective in preventing morbidity and mortality in sickle cell disease patients has been found to further aggravate the testicular dysfunction. This was a prospective study done at a tertiary care hospital over 26 months between September 2011 to October 2013. 100 male sickle cell disease patients of age group 15 to 45 years were recruited in the study. We evaluated seminal fluid indices in all patients and the effect of hydroxyurea on seminal fluid parameters. Hydroxyurea was given at low dose of 10mg/kg/day orally to patients with frequent vaso-occlusive crisis and frequent need of blood transfusion. Seminal fluid analysis was done according to WHO criteria before starting hydroxyurea and every 3 months after initiation of hydroxyurea. Patients with abnormal seminal parameters before hydroxyurea therapy were not given hydroxyurea therapy. Patients with abnormal sperm parameters were subjected for FNAC of testis. In sickle cell disease patients with hydroxyurea therapy, who developed abnormal seminal fluid parameters, hydroxyurea was stopped for 3 months and seminal fluid parameters were re-evaluated. Patients who had recovery of seminal indices after hydroxyurea cessation were restarted with hydroxyurea therapy at low dose. Among Sickle cell disease patients without hydroxyurea therapy, 18% of patients developed oligospermia and 4% developed azoospermia. Among sickle cell disease patients with hydroxyurea therapy, 20% of patients developed oligospermia and 10% developed azoospermia. Seminal fluid parameters reverted back to normal after stoppage of hydroxyurea for 3 months in 73% of patients. Alteration of sperm parameters is seen in a significant number of sickle cell disease patients. Also, alterations of seminal fluid parameters are exacerbated by hydroxyurea

  16. Inhibition of myeloperoxidase decreases vascular oxidative stress and increases vasodilatation in sickle cell disease mice.

    Science.gov (United States)

    Zhang, Hao; Xu, Hao; Weihrauch, Dorothee; Jones, Deron W; Jing, Xigang; Shi, Yang; Gourlay, David; Oldham, Keith T; Hillery, Cheryl A; Pritchard, Kirkwood A

    2013-11-01

    Activated leukocytes and polymorphonuclear neutrophils (PMN) release myeloperoxidase (MPO), which binds to endothelial cells (EC), is translocated, and generates oxidants that scavenge nitric oxide (NO) and impair EC function. To determine whether MPO impairs EC function in sickle cell disease (SCD), control (AA) and SCD mice were treated with N-acetyl-lysyltyrosylcysteine-amide (KYC). SCD humans and mice have high plasma MPO and soluble L-selectin (sL-selectin). KYC had no effect on MPO but decreased plasma sL-selectin and malondialdehyde in SCD mice. MPO and 3-chlorotyrosine (3-ClTyr) were increased in SCD aortas. KYC decreased MPO and 3-ClTyr in SCD aortas to the levels in AA aortas. Vasodilatation in SCD mice was impaired. KYC increased vasodilatation in SCD mice more than 2-fold, to ∼60% of levels in AA mice. KYC inhibited MPO-dependent 3-ClTyr formation in EC proteins. SCD mice had high plasma alanine transaminase (ALT), which tended to decrease in KYC-treated SCD mice (P = 0.07). KYC increased MPO and XO/XDH and decreased 3-ClTyr and 3-nitrotyrosine (3-NO₂Tyr) in SCD livers. These data support the hypothesis that SCD increases release of MPO, which generates oxidants that impair EC function and injure livers. Inhibiting MPO is an effective strategy for decreasing oxidative stress and liver injury and restoring EC function in SCD.

  17. Mortality in patients with Parkinson's disease

    DEFF Research Database (Denmark)

    Wermuth, L; Stenager, E; Stenager, E

    1995-01-01

    INTRODUCTION: After the introduction of L-dopa the mortality rate in Parkinson's disease (PD) patients has changed, but is still higher than in the background population. MATERIAL & METHODS: Mortality, age at death and cause of death in a group of PD patients compared with the background population...

  18. Wolman disease in patients with familial hemophagocytic ...

    African Journals Online (AJOL)

    Peculiar characteristics of these patients included absence of prominent fever, huge hepatomegaly and a severe failure to thrive. Conclusion: Wolman disease should be excluded in patients with clinical and laboratory characteristics of FHL and negative molecular testing especially if the fever is not prominent and is ...

  19. Retrograde amnesia in patients with Alzheimer's disease

    NARCIS (Netherlands)

    Meeter, M.; Eijsackers, E; Mulder, J

    2006-01-01

    Patients with mild to moderate Alzheimer's disease and normal controls were tested on two retrograde memory tests, one based on public events, and the other querying autobiographical memory. On both tests, patients showed strong decrements as compared to normal controls, pointing to retrograde

  20. Supporting communication for patients with neurodegenerative disease.

    Science.gov (United States)

    Fried-Oken, Melanie; Mooney, Aimee; Peters, Betts

    2015-01-01

    Communication supports, referred to as augmentative and alternative communication (AAC), are an integral part of medical speech-language pathology practice, yet many providers remain unfamiliar with assessment and intervention principles. For patients with complex communication impairments secondary to neurodegenerative disease, AAC services differ depending on whether their condition primarily affects speech and motor skills (ALS), language (primary progressive aphasia) or cognition (Alzheimer's disease). This review discusses symptom management for these three conditions, identifying behavioral strategies, low- and high-tech solutions for implementation during the natural course of disease. These AAC principles apply to all neurodegenerative diseases in which common symptoms appear. To present AAC interventions for patients with neurodegenerative diseases affecting speech, motor, language and cognitive domains. Three themes emerge: (1) timing of intervention: early referral, regular re-evaluations and continual treatment are essential; (2) communication partners must be included from the onset to establish AAC acceptance and use; and (3) strategies will change over time and use multiple modalities to capitalize on patients' strengths. AAC should be standard practice for adults with neurodegenerative disease. Patients can maintain effective, functional communication with AAC supports. Individualized communication systems can be implemented ensuring patients remain active participants in daily activities.

  1. [Hypothyroidism in patients with heart disease].

    Science.gov (United States)

    Jiskra, Jan

    Hypothyroidism is frequently found in patients with heart disease. It is a risk factor for atherosclerosis and ischemic heart disease and has a direct negative effect on both the left and right ventricular functions (hypothyroidism-induced cardiomyopathy). The confirmed manifest hypothyroidism is always a reason for replacement therapy with levothyroxine; regarding patients with heart disease, we always begin treatment with a small dose and increase it gradually. The treatment of subclinical hypothyroidism in patients with heart disease is disputable and its benefits probably depend on age. At a higher age, the therapy-related risks often outweigh its benefits, so we make do with the target levels of the thyroid stimulating hormone being within the upper band of the normal range, or even slightly above it, rather than overdosing the patient. To summarize in a simplified way, the treatment of subclinical hypothyroidism in patients with heart disease is the most effective in younger individuals, mainly those aged below 65, while at a higher age > 80 years the risk usually outweighs the benefit.Key words: cardiovascular risk - hypothyroidism - ischemic heart disease - left ventricular dysfunction - right ventricular dysfunction - subclinical hypothyroidism - thyroid peroxidase antibodies.

  2. Respect, trust, and the management of sickle cell disease pain in hospital: comparative analysis of concern-raising behaviors, preliminary model, and agenda for international collaborative research to inform practice.

    Science.gov (United States)

    Elander, James; Beach, Mary Catherine; Haywood, Carlton

    2011-01-01

    Qualitative interview studies suggest that adult patients' experiences of hospital treatment for sickle cell disease (SCD) pain reflect an absence of respect by providers for patients, and an absence or breakdown of trust. Systematic comparisons between treatment settings could help identify contextual influences on respect and trust. Quantitative comparison of concern-raising behaviors (pain treatment outcomes indicating breakdowns of trust) among adult SCD patients in Baltimore, Maryland, USA, and London, UK, followed by analysis of potential explanations for differences, including socio-cultural and behavioral factors, with a preliminary model of the processes leading to concern-raising behaviors. Rates of concern-raising behaviors were significantly higher in Baltimore than London. The model identifies respect and trust as key factors which could be targeted in efforts to improve the quality of SCD pain management in hospital. An agenda for international, interdisciplinary research to improve the treatment of SCD pain in hospital should include: comparative analyses between countries and treatment settings of factors that could influence respect and trust; research to test hypotheses derived from models about the roles of respect and trust in the treatment of pain; studies of the impact of healthcare structures and policy on patients' experiences of care; research focusing on developmental and interpersonal processes related to respect and trust; applications of attribution and other social psychology theories; and development and evaluation of interventions to improve the hospital treatment of SCD pain by increasing respect and trust.

  3. Effects of vaccines in patients with sickle cell disease: a systematic review protocol.

    Science.gov (United States)

    Wiyeh, Alison Beriliy; Abdullahi, Leila Hussein; Wonkam, Ambroise; Wiysonge, Charles Shey; Kaba, Mamadou

    2018-03-25

    Sickle cell disease (SCD) is an inherited haematological disorder caused by a single point mutation (Glub6Val) that promotes polymerisation of haemoglobin S and sickling of erythrocytes. Inflammation, haemolysis, microvascular obstruction and organ damage characterise the highly variable clinical expression of SCD. People with SCD are at increased risk of severe infections, hence the need for vaccination against common disease-causing organisms in this population. We aim to review the evidence on the efficacy and safety of vaccines in people with SCD. The present systematic review will examine the current data as indexed in PubMed, CENTRAL, EMBASE and EBSCOHost. We will consult Strategic Advisory Group of Experts practice statements, conference abstracts, reference lists of relevant articles, WHO ICTRP trial registry and experts in the field. Two authors will independently screen search outputs, select studies, extract data and assess risk of bias; resolving discrepancies by discussion and consensus between the two authors or arbitration by a third author when necessary. We will perform a meta-analysis for clinically homogenous studies. Evidence from clinically diverse studies will be aggregated using narrative synthesis of the findings. In either case, we will use the GRADE approach to assess the strength of the available evidence. The study draws on data that are readily available in the public domain, hence no formal ethical review and approval is required. The findings of this review will be disseminated through conference presentations and a publication in a peer-reviewed journal. CRD42018084051. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  4. [Dizziness in patients with heart disease].

    Science.gov (United States)

    Thuesen, Leif; May, Ole; Brorholt-Petersen, Jens Uffe; Christensen, Per Dahl

    2013-11-04

    In patients with heart disease, dizziness is primarily associated with syncope or pre-syncope and mandates further investigation to obtain a specific diagnosis, estimation of risk of sudden death and treatment options. After a focused history and physical examination, the cause of the problem may be determined in more than half of the patients. The reflex syncope is by far the most common form and may usually be handled by reassurance of the benign nature of the problem. Patients with syncope caused by brachy- or tachy-arrhythmia or structural or ischaemic heart disease should be referred to a cardiological department for specific diagnosis and treatment.

  5. Anxiety in Patients with Cardiac Disease

    Science.gov (United States)

    2005-01-01

    the patients were divided into high and low anxiety subgroups . As shown in Table 4.3, mean systolic blood pressure, diastolic blood pressure, and heart...rate were not statistically different for patients in the high and low anxiety subgroups , regardless of the presence or absence of cardiac disease...monitoring sleep and activity levels in patients with fibromyalgia and depression. JPsychosom Res. 2002;52:439-443. 19. Mason DJ, Redeker N. Measurement of

  6. Current treatments for patients with Alzheimer disease.

    Science.gov (United States)

    Osborn, Gerald G; Saunders, Amanda Vaughn

    2010-09-01

    There is neither proven effective prevention for Alzheimer disease nor a cure for patients with this disorder. Nevertheless, a spectrum of biopsychosocial therapeutic measures is available for slowing progression of the illness and enhancing quality of life for patients. These measures include a range of educational, psychological, social, and behavioral interventions that remain fundamental to effective care. Also available are a number of pharmacologic treatments, including prescription medications approved by the US Food and Drug Administration for Alzheimer disease, "off-label" uses of medications to manage target symptoms, and controversial complementary therapies. Physicians must make the earliest possible diagnosis to use these treatments most effectively. Physicians' goals should be to educate patients and their caregivers, to plan long-term care options, to maximally manage concurrent illnesses, to slow and ameliorate the most disabling symptoms, and to preserve effective functioning for as long as possible. The authors review the various current treatments for patients with Alzheimer disease.

  7. Birth month and longevity: birth month of victims of sudden (SCD, ≤1 h) and rapid (RCD, ≤24 h) cardiac deaths.

    Science.gov (United States)

    Stoupel, Eliyahu; Tamoshiunas, Abdonas; Radishauskas, Richardas; Abramson, Evgeny; Bernotiene, Gailute; Bacevichiene, Migle

    2013-01-01

    After a publication of a study in the Proceedings of the National Academy of Sciences USA in 2001, we published three studies related to birth month and morbidity of patients that can affect longevity. The aim of this study is to check two groups of cardiac deaths, consisting of more than 50% of cardiovascular mortality in the industrial world, to examine this paradigm. Patients suffering rapid cardiac death (RCD) (≤24 h) and sudden cardiac death (SCD) (≤1 h) in Lithuanian Medical Science University hospital, a tertiary 3000-bed facility, in 2000-2010 were studied. In total, 1239 RCDs and 324 SCDs were included in this study. Monthly, quarterly, trimester and half-year comparisons of the patients' birth month population were studied. A difference in birth month distribution of the study patients was observed. For RCDs (≤24 h), the highest numbers were found for January (11.0%) and May (10.3%), whereas for the SCDs (≤1 h), April (13.3%) and January (10.5%) dominated. The least numbers were in November (SCD, 5.6%; RCD, 6.2%) and December (5.2-6.1%). Those born in the first and second quarter and first trimester were significantly more than those born in the fourth quarter (I/IV, p=0.0023; I/III, p=0.0074; II/IV, p=0.047) or trimester [I/II, p=0.09 (trend); I/III p=0.014; II/III, p=0.079 (trend)]. In another study at the same location (number of newborns n=286,963), significant correlation between monthly newborn number and month of the year was not found. possible environmental effects related to the different monthly birth distributions of the studied group are discussed. Victims of SCD and RCD are unequally distributed according to month of birth. The highest numbers were found for January and March to May. The numbers are higher for the first and second quarter and first trimester in comparison with the months at the end of the year. The lowest numbers of study patients were born in November, December and October. This is in accord with the birth months of

  8. What is Sickle Cell Disease?

    Science.gov (United States)

    ... Congenital Anemias Including Sickle Cell Disease (SCD) and Beta-Thalassemia. Are you an adult with sickle cell disease ... Severe Congenital Anemias Including Sickle Cell Disease and Beta-Thalassemia. Are you 16 or older with sickle cell ...

  9. [Disease management for chronic heart failure patient].

    Science.gov (United States)

    Bläuer, Cornelia; Pfister, Otmar; Bächtold, Christa; Junker, Therese; Spirig, Rebecca

    2011-02-01

    Patients with chronic heart failure (HF) are limited in their quality of life, have a poor prognosis and face frequent hospitalisations. Patient self-management was shown to improve quality of life, reduce rehospitalisations and costs in patients with chronic HF. Comprehensive disease management programmes are critical to foster patient self-management. The chronic care model developed by the WHO serves as the basis of such programmes. In order to develop self-management skills a needs orientated training concept is mandatory, as patients need both knowledge of the illness and the ability to use the information to make appropriate decisions according to their individual situation. Switzerland has no established system for the care of patients with chronic diseases in particular those with HF. For this reason a group of Swiss experts for HF designed a model for disease management for HF patients in Switzerland. Since 2009 the Swiss Heart Foundation offers an education programme based on this model. The aim of this programme is to offer education and support for practitioners, patients and families. An initial pilot evaluation of the program showed mixed acceptance by practitioners, whereas patient assessed the program as supportive and in line with their requirements.

  10. Diagnostic value of soluble CD163 serum levels in patients suspected of meningitis: comparison with CRP and procalcitonin

    DEFF Research Database (Denmark)

    Knudsen, Troels Bygum; Larsen, Klaus; Kristiansen, Thomas Birk

    2007-01-01

    The aim of the study was to evaluate and compare the diagnostic value of sCD163 serum levels with CRP and PCT in meningitis and bacterial infection. An observational cohort study was conducted between February 2001 and February 2005. The study population comprised 55 patients suspected......-operating characteristic AUCs (areas under curves). Patients were classified by 2 sets of diagnostic criteria into: A) purulent meningitis, serous meningitis or non-meningitis, and B) systemic bacterial infection, local bacterial infection or non-bacterial disease. An elevated serum level of sCD163 was the most specific...... infection, the AUC of sCD163 (0.83) did not differ significantly from those of CRP or PCT. All markers had AUCs meningitis and other conditions. In conclusion, CRP and PCT had high diagnostic value and were superior as markers of bacterial infection compared to s...

  11. Associates of school absenteeism in adolescents with sickle cell disease.

    Science.gov (United States)

    Schwartz, Lisa A; Radcliffe, Jerilynn; Barakat, Lamia P

    2009-01-01

    Despite high rates of school absenteeism in adolescents with sickle cell disease (SCD), the issue remains understudied. Potential associates of school absenteeism in adolescents with SCD include demographic (age, income), psychosocial (IQ, self-efficacy, competence, internalizing symptoms, negative thinking), and health-related (hemoglobin, health-care utilization, pain, disease knowledge). Forty participants ages 12-18 completed measures of psychosocial functioning, IQ, and pain. Medical chart reviews identified other health-related variables. A subsample also completed an assessment of goals. Using school records, absenteeism was the percent of school days missed in the previous year. Correlations tested associates of absenteeism and linear regression tested a model of absenteeism. Participants missed an average of 12% of the school year and more than 35% missed at least 1 month of school. Health-related and psychosocial variables, but not demographic variables, correlated with absenteeism. Attendance at clinic appointments and parent-reported teen pain frequency were significant associates of absenteeism in the regression model. For those who completed goal assessment, over 40% of goals identified were academically focused. Absenteeism was positively related to current academic goals and health-related hindrance of academic goals, and negatively related to future-oriented academic goals. School absenteeism is a significant problem for adolescents with SCD despite the presence of academic goals. Collaboration between schools, parents, patients, and providers to understand and manage the impact of SCD on school attendance is recommended.

  12. Associates of School Absenteeism in Adolescents With Sickle Cell Disease

    Science.gov (United States)

    Schwartz, Lisa A.; Radcliffe, Jerilynn; Barakat, Lamia P.

    2009-01-01

    Background Despite high rates of school absenteeism in adolescents with sickle cell disease (SCD), the issue remains understudied. Potential associates of school absenteeism in adolescents with SCD include demographic (age, income), psychosocial (IQ, self-efficacy, competence, internalizing symptoms, negative thinking), and health-related (hemoglobin, health-care utilization, pain, disease knowledge). Procedure Forty participants ages 12–18 completed measures of psychosocial functioning, IQ, and pain. Medical chart reviews identified other health-related variables. A subsample also completed an assessment of goals. Using school records, absenteeism was the percent of school days missed in the previous year. Correlations tested associates of absenteeism and linear regression tested a model of absenteeism. Results Participants missed an average of 12% of the school year and more than 35% missed at least 1 month of school. Health-related and psychosocial variables, but not demographic variables, correlated with absenteeism. Attendance at clinic appointments and parent-reported teen pain frequency were significant associates of absenteeism in the regression model. For those who completed goal assessment, over 40% of goals identified were academically focused. Absenteeism was positively related to current academic goals and health-related hindrance of academic goals, and negatively related to future-oriented academic goals. Conclusions School absenteeism is a significant problem for adolescents with SCD despite the presence of academic goals. Collaboration between schools, parents, patients, and providers to understand and manage the impact of SCD on school attendance is recommended. PMID:19006248

  13. Cardiometabolic factors and disease duration in patients with Parkinson's disease.

    Science.gov (United States)

    Cassani, Erica; Cereda, Emanuele; Barichella, Michela; Madio, Carmen; Cancello, Raffaella; Caccialanza, Riccardo; Zini, Michela; Cilia, Roberto; Pezzoli, Gianni

    2013-01-01

    Previous studies have reported that patients with Parkinson's disease (PD) have a favorable cardiometabolic risk profile. The aim of this study was to investigate the relationship between cardiometabolic risk factors and the duration of disease. One hundred and fifty patients with PD (56.7% men) were studied, measuring body mass index (BMI), waist circumference (WC), body fat percentage (BF%) by impedance, fasting glucose, serum lipids, and transaminases. In sex- and age-adjusted correlation models, duration of PD was inversely related to BMI (r = -0.20; P HDL) levels were positively correlated with disease duration (P HDL-cholesterol ratio was also inversely associated with duration of PD (P HDL levels and total HDL-cholesterol ratio were favorably associated with duration of PD. This factor may contribute to cardiometabolic protection in PD. The mechanisms underlying this association deserve further investigation. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Clinical features and disease progression in moyamoya disease patients with Graves disease.

    Science.gov (United States)

    Chen, Jian-Bin; Lei, Ding; He, Min; Sun, Hong; Liu, Yi; Zhang, Heng; You, Chao; Zhou, Liang-Xue; Zhou, Ling-Xue

    2015-10-01

    The present study aimed to clarify the incidence and clinical features of disease progression in adult moyamoya disease (MMD) patients with Graves disease (GD) for better management of these patients. During the past 18 years, 320 adult Chinese patients at West China Hospital were diagnosed with MMD, and 29 were also diagnosed with GD. A total of 170 patients (25 with GD; 145 without GD) were included in this study and were followed up. The mean follow-up was 106.4 ± 48.6 months (range 6-216 months). The progression of the occlusive lesions in the major intracranial arteries was measured using cerebral angiography and was evaluated according to Suzuki's angiographic staging. Information about cerebrovascular strokes was obtained from the records of patients' recent clinical visits. Both angiographic progression and strokes were analyzed to estimate the incidences of angiographic progression and strokes using Kaplan-Meier analysis. A multivariate logistic regression model was used to test the effects of sex, age at MMD onset, disease type, strokes, and GD on the onset of MMD progression during follow-up. During follow-up, the incidence of disease progression in MMD patients with GD was significantly higher than in patients without GD (40.0% vs 20.7%, respectively; p = 0.036). The interval between initial diagnosis and disease progression was significantly shorter in MMD patients with GD than in patients without GD (p = 0.041). Disease progression occurred in both unilateral MMD and bilateral MMD, but the interval before disease progression in patients with unilateral disease was significantly longer than in patients with bilateral disease (p = 0.021). The incidence of strokes in MMD patients with GD was significantly higher than in patients without GD (48% vs 26.2%, respectively; p = 0.027). The Kaplan-Meier survival curve showed significant differences in the incidence of disease progression (p = 0.038, log-rank test) and strokes (p = 0.031, log-rank test) between

  15. Mortality in patients with pituitary disease.

    LENUS (Irish Health Repository)

    Sherlock, Mark

    2010-06-01

    Pituitary disease is associated with increased mortality predominantly due to vascular disease. Control of cortisol secretion and GH hypersecretion (and cardiovascular risk factor reduction) is key in the reduction of mortality in patients with Cushing\\'s disease and acromegaly, retrospectively. For patients with acromegaly, the role of IGF-I is less clear-cut. Confounding pituitary hormone deficiencies such as gonadotropins and particularly ACTH deficiency (with higher doses of hydrocortisone replacement) may have a detrimental effect on outcome in patients with pituitary disease. Pituitary radiotherapy is a further factor that has been associated with increased mortality (particularly cerebrovascular). Although standardized mortality ratios in pituitary disease are falling due to improved treatment, mortality for many conditions are still elevated above that of the general population, and therefore further measures are needed. Craniopharyngioma patients have a particularly increased risk of mortality as a result of the tumor itself and treatment to control tumor growth; this is a key area for future research in order to optimize the outcome for these patients.

  16. Psychosocial interventions for patients with chronic disease

    Directory of Open Access Journals (Sweden)

    Deter Hans-Christian

    2012-01-01

    Full Text Available Abstract Treatment of patients with chronic diseases will be one of the main challenges of medicine in the future. This paper presents an overview of different origins, mechanism, and symptoms necessary for understanding new and different interventions that include a psychosomatic view. In a psychosomatic therapeutic intervention there are very different targets, such as psychological symptoms, personality traits, attitudes toward disease and life, risk behaviour, and social isolation and as biological targets the change of autonomic imbalance and of the effects of the psycho-endocrinological or psycho-immunological stress responses. And there are also different psychosomatic measures that influence the individual biological, psychological and sociological targets. There is a need to give different answer to different questions in the field of psychosomatic and behavioral medicine. Comparative effectiveness research is an important strategy for solving some methodological issues. What is the target of treatment for different diseases: Symptom reduction, healing, or limiting progression to the worst case - the death of patients. We know that, the patient-physician relationship is important for every medical/therapeutic action for patients with chronic diseases. This volume of BioPsychoSocial Medicine will present four different psychosomatic treatment studies from the clinical field in the sense of phase 2 studies: Reports of patients with obesity, anorexia nervosa, chronic somatoform pain and coronary artery disease were presented

  17. 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

  18. Renal status of children with sickle cell disease in Accra, Ghana.

    Science.gov (United States)

    Osei-Yeboah, C T; Rodrigues, O

    2011-12-01

    In West Africa, the prevalence of sickle cell disease (SCD) is 2%. The disease adversely affects growth, development and organ function including the kidneys. There is however a dearth of information about the renal status of SCD children in Ghana. To assess the renal status of children with SCD in steady state. A cross-sectional case-control study. Paediatric Sickle Cell Clinic, Korle Bu Teaching Hospital, Accra. Cases-357 SCD cases and 70 of their HbAA siblings as controls. Documentation of their socio-demographic data, clinical data and dipstick urinalysis findings, and renal ultrasonography on selected participants. The mean [SD] age was 7.18 [3.15]yrs for cases and 5.16[3.28]yrs for controls. The genotypes were Hb SS (76.7%), Hb SC (21.8 %), and Hb Sβthal (1.4%). Urinalysis showed leucocyturia in 12.6% versus 5.7% (χ2=62.5 and the p=0.000)), isolated proteinuria in 2.8% versus 1.43% (χ2=10.01 and p=0.001) haematuria in 2.6% versus 0% (χ2=9.233, p=0.002) and nitrites in 2.2% versus 1.4% (χ2=16.3,p=0.02) of cases and controls respectively. The youngest SCD case with proteinuria was 2 yrs. old. Proteinuria prevalence increased with age, , occurring in 5.7% of cases aged 9-11yrs. and 20.6% of cases aged 12 yrs. Two-thirds of the proteinuria cases were aged 9-12 yrs., of whom 50% were aged 12 yrs. Renal ultrasound findings were normal in all those examined. Urinary abnormalities suggesting nephropathy occur early in SCD patients in Ghana. Routine dipstick screening at clinic visits countrywide would help early detection and prompt intervention to limit renal impairment.

  19. Neoplastic pericardial disease. Analysis of 26 patients

    Directory of Open Access Journals (Sweden)

    Helena Nogueira Soufen

    1999-01-01

    Full Text Available PURPOSE: To characterize patients with neoplastic pericardial disease diagnosed by clinical presentation, complementary test findings, and the histological type of tumor. METHODS: Twenty-six patients with neoplastic pericardial disease were retrospectively analyzed. RESULTS: Clinical manifestations and abnormalities in chest roentgenograms and electrocardiograms were frequent, but were not specific. Most patients underwent surgery. There was a high positivity of the pericardial biopsy when associated with the cytological analysis of the pericardial liquid used to determine the histological type of the tumor, particularly when the procedure was performed with the aid of pericardioscopy. CONCLUSION: The correct diagnosis of neoplastic pericardial disease involves suspicious but nonspecific findings during clinical examination and in screen tests. The suspicious findings must be confirmed through more invasive diagnostic approaches, in particular pericardioscopy with biopsy and cytological study.

  20. LOCAL ANESTHETICS IN PATIENTS WITH CARDIOVASCULAR DISEASES.

    Directory of Open Access Journals (Sweden)

    risto Daskalov

    2015-03-01

    Full Text Available A significant problem in the dental medicine is pain alleviation. Many studies in the dental anesthesiology result in the production of new agents for locoregional anesthesia. Objective: This article aim to present the results of the last studies on the effect of the local anesthetics used in the oral surgery on patients with cardiovascular diseases. Material: A general review of the existing literature on the effect of the adrenaline, included as vasoconstrictor in the local anesthetics, used in patients with cardiovascular diseases is made. The benefits of vasoconstrictors for the quality of the anesthetic effect are proven. Conclusion: A small amount of adrenaline in the anesthetic solution does not result in complications development in patients with controlled cardiovascular diseases. Articaine is recommended agent of first choice for local anesthesia in the oral surgery.

  1. Perioperative management of patients with Parkinson's disease.

    Science.gov (United States)

    Katus, Linn; Shtilbans, Alexander

    2014-04-01

    Parkinson's disease is the second most common neurodegenerative disease worldwide, leading to a wide range of disability and medical complications. Managing patients with Parkinson's disease in the perioperative hospital setting can be particularly challenging. Suboptimal management can lead to medical complications, prolonged hospital stays, and delayed recovery. This review aims to address the most important issues related to caring for patients with Parkinson's disease perioperatively who are undergoing emergent or planned general surgery. It also intends to help hospitalists, internists, and other health care providers mitigate potential in-hospital morbidity and prevent prolonged recovery. Challenges in managing patients with Parkinson's disease in the perioperative hospital setting include disruption of medication schedules, "nothing by mouth" status, reduced mobility, and medication interactions and their side effects. Patients with Parkinson's disease are more prone to immobility and developing dysphagia, respiratory dysfunction, urinary retention, and psychiatric symptoms. These issues lead to higher rates of pneumonia, urinary tract infections, deconditioning, and falls compared with patients without Parkinson's disease, as well as prolonged hospital stays and a greater need for post-hospitalization rehabilitation. Steps can be taken to decrease these complications, including minimizing nothing by mouth status duration, using alternative routes of drugs administration when unable to give medications orally, avoiding drug interactions and medications that can worsen parkinsonism, assessing swallowing ability frequently, encouraging incentive spirometry, performing bladder scans, avoiding Foley catheters, and providing aggressive physical therapy. Knowing and anticipating these potential complications allow hospital physicians to mitigate nosocomial morbidity and shorten recovery times and hospital stays. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Periodontal disease in the older patient.

    Science.gov (United States)

    Irwin, Chris R

    2011-03-01

    Population projections predict an increasing number of dentate older people who will require assessment and treatment of periodontal disease. Studies show that healthy, older patients show no increased risk of periodontal disease progression compared to younger individuals, while periodontal treatment can be equally successful in the older age group. However, co-morbidity can impact negatively on both the periodontal tissues and the dentition. These effects range from a reduced ability to maintain adequate plaque control, to the use of drug and other therapies directly affecting the periodontal tissues and salivary flow. An individualized treatment plan is required for older patients, taking account of all factors impacting on the periodontal tissues.

  3. [Metronome therapy in patients with Parkinson disease].

    Science.gov (United States)

    Enzensberger, W; Oberländer, U; Stecker, K

    1997-12-01

    We studied 10 patients with Parkinson's disease and 12 patients with Parkinson-plus-syndrome, trying to improve patients' gait by application of various external rhythmic stimuli, including metronome stimulation (96 beats per minute = middle andante). The test course of the patients was 4 x 10 meters and 3 U-turns. The patients' gait quality under stimulation was compared with their free walk (velocity, number of steps, number of freezing episodes). Metronome stimulation significantly reduced the time and number of steps needed for the test course and also diminished the number of freezing episodes. March music stimulation was less effective and tactile stimulation (rhythmically tapping on the patient's shoulder) even produced negative results. The positive effect of metronome stimulation was also found, when the tests were not performed inside the hospital building, but outside in the hospital parc. Metronome stimulation was comparably effective in both patient sub-groups examined in this study (M. Parkinson, Parkinson-plus-syndrome) and seems to be an important additional help in the treatment of these patients. Electronical metronomes are not expensive, easy in handling, and portable. A theoretical explanation of metronome stimulation effectivity in patients with Parkinson's disease still needs to be elucidated.

  4. Cushing's disease in the elderly patient

    Directory of Open Access Journals (Sweden)

    Maritza Cardosa Samón

    2012-05-01

    Full Text Available Introduction: Cushing's disease arises from increased ACTH secretion from a pituitary tumor that stimulates the area fasciculata of the adrenal cortex and produces hypersecretion of glucocorticoids. Objectives: To explain the clinical and humoral manifestations of Cushing's disease in elderly adults. Methods: The article is a descriptive and retrospective study of a case report on a 62 year old patient that is admitted to our Center with manifestations of facial plethora and centripetal obesity. Onset was characterized by hypertension and diabetes mellitus. Definitive diagnosis was Cushing's disease from a macroadenoma with increased ACTH secretion.

  5. Managing coeliac disease in patients with diabetes.

    Science.gov (United States)

    Leonard, M M; Cureton, P A; Fasano, A

    2015-01-01

    The association between coeliac disease and type 1 diabetes has long been established. The combination of genetic susceptibility along with a potential role for gluten in the pathogenesis of autoimmunity makes defining gluten's role in type 1 diabetes extremely important. Evidence supporting the role of a gluten-free diet to improve complications associated with type 1 diabetes is not robust. However there is evidence to support improved growth, bone density and potentially the prevention of additional autoimmune diseases in patients with coeliac disease and type 1 diabetes. The gluten free diet is expensive and challenging to adhere to in people already on a modified diet. Early identification of those who have coeliac disease and would benefit from a gluten-free diet is of utmost importance to prevent complications associated with type 1 diabetes and coeliac disease. © 2014 John Wiley & Sons Ltd.

  6. Inhibition of myeloperoxidase decreases vascular oxidative stress and increases vasodilatation in sickle cell disease mice1[S

    Science.gov (United States)

    Zhang, Hao; Xu, Hao; Weihrauch, Dorothee; Jones, Deron W.; Jing, Xigang; Shi, Yang; Gourlay, David; Oldham, Keith T.; Hillery, Cheryl A.; Pritchard, Kirkwood A.

    2013-01-01

    Activated leukocytes and polymorphonuclear neutrophils (PMN) release myeloperoxidase (MPO), which binds to endothelial cells (EC), is translocated, and generates oxidants that scavenge nitric oxide (NO) and impair EC function. To determine whether MPO impairs EC function in sickle cell disease (SCD), control (AA) and SCD mice were treated with N-acetyl-lysyltyrosylcysteine-amide (KYC). SCD humans and mice have high plasma MPO and soluble L-selectin (sL-selectin). KYC had no effect on MPO but decreased plasma sL-selectin and malondialdehyde in SCD mice. MPO and 3-chlorotyrosine (3-ClTyr) were increased in SCD aortas. KYC decreased MPO and 3-ClTyr in SCD aortas to the levels in AA aortas. Vasodilatation in SCD mice was impaired. KYC increased vasodilatation in SCD mice more than 2-fold, to ∼60% of levels in AA mice. KYC inhibited MPO-dependent 3-ClTyr formation in EC proteins. SCD mice had high plasma alanine transaminase (ALT), which tended to decrease in KYC-treated SCD mice (P = 0.07). KYC increased MPO and XO/XDH and decreased 3-ClTyr and 3-nitrotyrosine (3-NO2Tyr) in SCD livers. These data support the hypothesis that SCD increases release of MPO, which generates oxidants that impair EC function and injure livers. Inhibiting MPO is an effective strategy for decreasing oxidative stress and liver injury and restoring EC function in SCD. PMID:23956444

  7. HLA genotyping in pediatric celiac disease patients

    Science.gov (United States)

    Stanković, Biljana; Radlović, Nedeljko; Leković, Zoran; Ristić, Dragana; Radlović, Vladimir; Nikčević, Gordana; Kotur, Nikola; Vučićević, Ksenija; Kostić, Tatjana; Pavlović, Sonja; Zukić, Branka

    2014-01-01

    Celiac disease (CD) is a chronic inflammatory disease in the small intestine triggered by gluten uptake that occurs in genetically susceptible individuals. HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 90-95% of CD patients. All of the remaining patients carry HLA-DQ8 protein encoded by HLA-DQA1*03 and DQB1*03:02 alleles. Specific HLA-DQ genotypes define different risk for CD incidence. Presence of susceptible HLA-DQ genotypes does not predict certain disease development, but their absence makes CD very unlikely, close to 100%. Here we presented for the first time the distribution of HLA-DQ genotypes in the group of pediatric celiac patients from the University Children’s Hospital, Belgrade, Serbia and estimated risk for CD development that these genotypes confer. Seventy three celiac disease patients and 62 healthy individuals underwent genotyping for DQA1, DQB1 alleles and DRB1 allele. 94.5% of patients carried alleles that encode DQ2 protein variant and 2.7% carried alleles that encode DQ8 protein variant. Two patients carried single DQB1*02 allele. No patients were negative for all the alleles predisposing to CD. The highest HLA-DQ genotype risk for CD development was found in group of patients homozygous for DQ2.5 haplotype, followed by the group of heterozygous carriers of DQ2.5 haplotype in combination with DQB1*02 allele within the other haplotype. The lowest risk was observed in carriers of a single copy of DQB1*02 or DQA1*05 allele or other non-predisposing alleles. HLA genotyping, more informative than serological testing commonly used, proved to be a useful diagnostic tool for excluding CD development. PMID:25172978

  8. HLA genotyping in pediatric celiac disease patients

    Directory of Open Access Journals (Sweden)

    Biljana Stanković

    2014-08-01

    Full Text Available Celiac disease (CD is a chronic inflammatory disease in the small intestine triggered by gluten uptake that occurs in genetically susceptible individuals. HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 90-95% of CD patients. All of the remaining patients carry HLA-DQ8 protein encoded by HLA-DQA1*03 and DQB1*03:02 alleles. Specific HLA-DQ genotypes define different risk for CD incidence. Presence of susceptible HLA-DQ genotypes does not predict certain disease development, but their absence makes CD very unlikely, close to 100%. Here we presented for the first time the distribution of HLA-DQ genotypes in the group of pediatric celiac patients from the University Children’s Hospital, Belgrade, Serbia and estimated risk for CD development that these genotypes confer. Seventy three celiac disease patients and 62 healthy individuals underwent genotyping for DQA1, DQB alleles and DRB1 allele. 94.5% of patients carried alleles that encode DQ2 protein variant and 2.7% carried alleles that encode DQ8 protein variant. Two patients carried single DQB1*02 allele. No patients were negative for all the alleles predisposing to CD. The highest HLA-DQ genotype risk for CD development was found in group of patients homozygous for DQ2.5 haplotype, followed by the group of heterozygous carriers of DQ2.5 haplotype in combination with DQB1*02 allele within the other haplotype. The lowest risk was observed in carriers of a single copy of DQB1*02 or DQA1*05 allele or other non-predisposing alleles. HLA genotyping, more informative than serological testing commonly used, proved to be a useful diagnostic tool for excluding CD development.

  9. Reduced toxicity, myeloablative HLA-haploidentical hematopoietic stem cell transplantation with post-transplantation cyclophosphamide for sickle cell disease.

    Science.gov (United States)

    Wiebking, Volker; Hütker, Sebastian; Schmid, Irene; Immler, Stefanie; Feuchtinger, Tobias; Albert, Michael H

    2017-08-01

    Allogeneic hematopoietic stem cell transplantation (HSCT) offers the possibility of cure for sickle cell disease (SCD) patients. Unfortunately, the probability of finding an HLA-matched donor for SCD patients is low. HSCT from HLA-haploidentical donors using reduced intensity conditioning, unmanipulated bone marrow and post-transplantation cyclophosphamide (ptCy) has resulted in negligible toxicity but high rates of graft rejection. We hypothesized that combining ptCy with a myeloablative reduced toxicity conditioning including serotherapy to increase immune ablation would allow for better engraftment. In a pilot approach, we treated three patients with SCD (5, 8, and 20 years old) lacking a matched donor. All patients had severe disease-related complications despite standard treatment. They received unmanipulated bone marrow from parental HLA-haploidentical donors. Conditioning consisted of alemtuzumab 0.2 mg/kg/day on days -9 and -8, fludarabine 30 mg/m 2 /day on days -7 to -3, treosulfan 14 g/m 2 /day on days -7 to -5, thiotepa 2 × 5 mg/kg/day on day -4, and cyclophosphamide 14.5 mg/kg/day on days -3 and -2. GVHD prophylaxis was performed using cyclophosphamide 2 × 50 mg/kg on days +3 and +4 and mycophenolate mofetil, tacrolimus from day +5. After a follow-up of 11, 14, and 30 months, all three patients are alive and well, off immunosuppression, and without symptoms of SCD. One patient experienced mild skin GVHD grade I, none showed chronic GVHD. Asymptomatic CMV reactivation was seen in two patients. HLA-haploidentical HSCT can extend the donor pool for patients with SCD. Whether intensification of the conditioning regimen and intensive immunosuppression leads to improvement in engraftment rates while still allowing a favorable toxicity profile deserves further investigation.

  10. Learning disabilities in Darier's disease patients.

    Science.gov (United States)

    Dodiuk-Gad, R; Lerner, M; Breznitz, Z; Cohen-Barak, E; Ziv, M; Shani-Adir, A; Amichai, B; Zlotogorski, A; Shalev, S; Rozenman, D

    2014-03-01

    Neuropsychiatric features and intellectual difficulties have been reported in studies of Darier's disease. Learning disabilities have never been reported or evaluated systematically in these patients. To assess the prevalence of learning disabilities in 76 patients with Darier's disease, and cognitive functioning in 19 of them. The data were collected by two methods: a questionnaire, as part of a larger study on the clinical characteristics of 76 patients; and neuropsychological measures for the assessment of learning disabilities in 19 of them. Thirty-one of the 76 patients reported learning disabilities (41%) and 56 (74%) reported a family history of learning disabilities. Significant differences were found between the 19 patients evaluated on cognitive tasks and a control group of 42 skilled learners on subtraction and multiplication tasks. Six (32%) of the 19 were identified as having reading difficulties and five (26%) exhibited low performance on the Concentration Performance Test. All patients had general cognitive ability in the average range. Findings suggest an association between Darier's disease and learning disabilities, a heretofore unreported association, pointing to the need to obtain personal and family history of such disabilities in order to refer cases of clinical concern for further study. © 2013 The Authors Journal of the European Academy of Dermatology and Venereology © 2013 European Academy of Dermatology and Venereology.

  11. Perioperative management of patients with rheumatic diseases.

    Science.gov (United States)

    Bissar, Lina; Almoallim, Hani; Albazli, Khaled; Alotaibi, Manal; Alwafi, Samar

    2013-01-01

    This paper aims to explore the assessment of patients with rheumatologic diseases, especially rheumatoid arthritis (RA), before undergoing orthopedic surgery. Perioperative assessment ensures an early diagnosis of the patient's medical condition, overall health, medical co-morbidities, and the assessment of the risk factors associated with the proposed procedures. Perioperative assessment allows for proper postoperative management of complications and of the management of drugs such as disease-modifying anti-rheumatic drugs (DMARD) and anti-platelets, and corticosteroids. The assessment also supports follow up plans, and patient education. Perioperative assessment enables the discussion of the proposed treatment plans and the factors associated with them in each case among the different specialists involved to facilitate an appropriate early decision-making about the assessment and treatment of patients with rheumatologic diseases. It also enables the discussion of both condition and procedure with the patient to ensure a good postoperative care. The article identifies the components of perioperative medical evaluation, discusses perioperative management of co-morbidities and the management of specific clinical problems related to RA, systemic lupus erythematosus, the management of DMARDs, like methotrexate (MTX) and biologic therapies, prophylactic antibiotics, and postoperative follow up, including patient education and rehabilitation.

  12. Perioperative Management of Patients with Rheumatic Diseases

    Science.gov (United States)

    Bissar, Lina; Almoallim, Hani; Albazli, Khaled; Alotaibi, Manal; Alwafi, Samar

    2013-01-01

    This paper aims to explore the assessment of patients with rheumatologic diseases, especially rheumatoid arthritis (RA), before undergoing orthopedic surgery. Perioperative assessment ensures an early diagnosis of the patient's medical condition, overall health, medical co-morbidities, and the assessment of the risk factors associated with the proposed procedures. Perioperative assessment allows for proper postoperative management of complications and of the management of drugs such as disease-modifying anti-rheumatic drugs (DMARD) and anti-platelets, and corticosteroids. The assessment also supports follow up plans, and patient education. Perioperative assessment enables the discussion of the proposed treatment plans and the factors associated with them in each case among the different specialists involved to facilitate an appropriate early decision-making about the assessment and treatment of patients with rheumatologic diseases. It also enables the discussion of both condition and procedure with the patient to ensure a good postoperative care. The article identifies the components of perioperative medical evaluation, discusses perioperative management of co-morbidities and the management of specific clinical problems related to RA, systemic lupus erythematosus, the management of DMARDs, like methotrexate (MTX) and biologic therapies, prophylactic antibiotics, and postoperative follow up, including patient education and rehabilitation PMID:24062860

  13. Visual hallucinations in patients with retinal disease.

    Science.gov (United States)

    Scott, I U; Schein, O D; Feuer, W J; Folstein, M F

    2001-05-01

    To investigate the prevalence and phenomenologic nature of visual hallucinations among patients with retinal disease and to investigate whether presence of hallucinations is a significant predictor of functional status, quality of life, and/or emotional distress after adjusting for visual acuity. Cross-sectional study. Eighty-six consecutive patients at the Wilmer Ophthalmologic Institute Retinal Vascular Center were interviewed using the Sickness Impact Profile, Community Disability Scale, General Health Questionnaire, Visual Phenomena Interview, Eysenck Personality Questionnaire, and Telephone Interview for Cognitive Status. The prevalence of visual hallucinations was 15.1%. Most were formed hallucinations in clear consciousness that lasted for seconds to minutes. The majority of patients had been experiencing visual hallucinations for less than 1 year (61.5%) or for 1 to 2 years (23.1%). Only two of the 13 patients with hallucinations had informed a physician of their hallucinations. Univariate analyses revealed that variables significantly associated with experiencing hallucinations were female sex, worse visual acuity, bilateral visual impairment, emotional distress, decreased functional status, and decreased quality of life. Regression analysis demonstrated that among patients with relatively good vision, those who experienced hallucinations were more emotionally distressed and had a lower quality of life than patients without hallucinations. Visual hallucinations among patients with retinal disease are common, underdiagnosed, and not associated with cognitive deficits, abnormal personality traits, or a family or personal history of psychiatric morbidity. Among patients with relatively good vision, hallucinations are associated with increased emotional distress and decreased quality of life.

  14. The radiological manifestations of sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Madani, G. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom)]. E-mail: gittamadani@yahoo.com; Papadopoulou, A.M. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Holloway, B. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Robins, A. [Department of Paediatrics, Whittington Hospital NHS Trust, London (United Kingdom); Davis, J. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom); Murray, D. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom)

    2007-06-15

    Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD.

  15. The Association of CD81 Polymorphisms with Alloimmunization in Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Zohreh Tatari-Calderone

    2013-01-01

    Full Text Available The goal of the present work was to identify the candidate genetic markers predictive of alloimmunization in sickle cell disease (SCD. Red blood cell (RBC transfusion is indicated for acute treatment, prevention, and abrogation of some complications of SCD. A well-known consequence of multiple RBC transfusions is alloimmunization. Given that a subset of SCD patients develop multiple RBC allo-/autoantibodies, while others do not in a similar multiple transfusional setting, we investigated a possible genetic basis for alloimmunization. Biomarker(s which predicts (predict susceptibility to alloimmunization could identify patients at risk before the onset of a transfusion program and thus may have important implications for clinical management. In addition, such markers could shed light on the mechanism(s underlying alloimmunization. We genotyped 27 single nucleotide polymorphisms (SNPs in the CD81, CHRNA10, and ARHG genes in two groups of SCD patients. One group (35 of patients developed alloantibodies, and another (40 had no alloantibodies despite having received multiple transfusions. Two SNPs in the CD81 gene, that encodes molecule involved in the signal modulation of B lymphocytes, show a strong association with alloimmunization. If confirmed in prospective studies with larger cohorts, the two SNPs identified in this retrospective study could serve as predictive biomarkers for alloimmunization.

  16. Childhood and adolescent growth of patients with sickle cell disease in Aracaju, Sergipe, north-east Brazil.

    Science.gov (United States)

    Cipolotti, R; Caskey, M F; Franco, R P; Mello, E V; Dal Fabbro, A L; Gurgel, R Q; Cuevas, L E

    2000-06-01

    Sickle cell disease (SCD) is the most prevalent inherited monogenic pathology in South America. Although children with SCD have normal birthweight, weight deficit is often seen from early childhood. On the other hand, paradoxically, normal final height associated with delayed puberty has been reported from Brazil and Jamaica. This cross-sectional study describes the growth pattern by age and sex in 76 children and adolescents with SCD in Sergipe, north-east Brazil with a median age of 110 months. Median weights and heights for age were below the NCHS standards. The weight and height deficits were statistically significant for boys of all ages, except for 7-year-olds. Most girls have median weights and heights below the NCHS standards but this only becomes statistically significant at 15 years of age. Family channels were calculated from the parents' heights. The observed height was lower than the expected percentile value for the family in seven (41%) children, equal to expected family height in six (35%) and above expected family height in four (24%) of 17 teenagers. Our findings suggest that Brazilian children with SCD do not attain normal height and weight. It is therefore likely that, although maximum height and weight velocity occur significantly later than normal due to delayed puberty, the magnitude of this spurt is less than normal.

  17. Detection of arousals in Parkinson's disease patients

    DEFF Research Database (Denmark)

    Sørensen, Gertrud Laura; Kempfner, Jacob; Jennum, Poul

    2011-01-01

    suffering from Parkinson's disease (PD). The proposed algorithm uses features from EEG, EMG and the manual sleep stage scoring as input to a feed-forward artificial neural network (ANN). The performance of the algorithm has been assessed using polysomnographic (PSG) recordings from a total of 8 patients...

  18. Woman with Sickle Cell Disease with Current Sigmoid Sinus Thrombosis and History of Inadequate Warfarin Use during a Past Thrombotic Event

    Directory of Open Access Journals (Sweden)

    Asuman Çelikbilek

    2009-05-01

    Full Text Available We report a 20-year-old woman with sickle cell disease (SCD who presented with a severe pulsating headache, nausea, and vomiting. Her history was significant for a past thrombotic event during which she had not used anticoagulation therapy as prescribed. Her mental status was mildly confused. On funduscopic examination, papilledema and retinal hemorrhages were found. Results of a computed tomogram were normal. A lumbar puncture demonstrated increased intracranial pressure (60 cm H2O. Magnetic resonance venography demonstrated a right sigmoid sinus thrombosis. Although SCD has been reported as a cause of thrombotic dural venous sinus events, this case increases the knowledge about neurological complications of SCD. The patient was treated with low molecular weight heparin, blood transfusions, acetazolamide, and methylprednisolone, and her symptoms and signs resolved.

  19. Mortality in patients with Parkinson's disease

    DEFF Research Database (Denmark)

    Wermuth, L; Stenager, E; Stenager, E

    1995-01-01

    INTRODUCTION: After the introduction of L-dopa the mortality rate in Parkinson's disease (PD) patients has changed, but is still higher than in the background population. MATERIAL & METHODS: Mortality, age at death and cause of death in a group of PD patients compared with the background population....... In the background population the median age at death was 80.69 years for men and 84.37 years for women. The SMR for men was 1.92 and for women 2.47. Infections, in particular lung infections, and heart diseases were the most common causes of death. Seventy percent of the death certificates had PD as a diagnosis....... CONCLUSION: It is likely that several factors can influence the changed mortality of PD: more effective treatment, changing diagnostic practice, and inter-disease competition....

  20. Genetic modulators of sickle cell disease in French Guiana: Markers of the slave trade.

    Science.gov (United States)

    Simonnet, Christine; Elanga, Narcisse; Joly, Philippe; Vaz, Tania; Nacher, Mathieu

    2016-11-01

    Sickle cell disease (SCD) is the leading genetic disease in French Guiana, reflecting the predominantly African ancestry of the Guianese population. Our purpose was to characterize the genetic modulators of SCD in order to retrace the origin of the population in light of the slave trade. We have studied the sickle cell genotype, the βS haplotypes, the alpha and beta thalassemia and the UGT1A1 promoter polymorphisms in 224 Guianese patients with SCD. The genotypes of SCD were HbSS 65.6%, HbSC 24.5%, and HbS-beta thalassemia 9.4%. The most frequent βS haplotypes were the Benin haplotype (65.9% of the chromosomes) and the Bantu (20.5%). Alpha thalassemic deletions were present in 37% of the patients and homozygosity for the (TA)7 allele of the UGT1A1 promoter in 21.4%. When the patients' origins were considered, 3 groups, Noir Marron, Haitians and Creoles, displayed distinctive characteristics. The HbSC genotype, the Benin haplotype, and the homozygous UGT1A1 genotype TA7/TA7 were significantly more frequent in Noir Marron. The Haitian patients were characterized by the occurrence of alpha-thalassemia and beta-thalassemia and by a higher prevalence of the Bantu haplotype. In the group of Creole patients, the genotype HbSS was predominant but the other modulators of SCD were associated with intermediate risk. The results highlight the genetic diversity of the Guianese population and are concordant with historical data on the slave trade showing a West African origin for Noir Marron and a Central African origin for Haitians, while Guianese Creoles are highly admixed. Am. J. Hum. Biol. 28:811-816, 2016. © 2016Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  1. Chronic kidney disease in HIV patients

    Science.gov (United States)

    Bakri, S.; Rasyid, H.; Kasim, H.; Katu, S.

    2018-03-01

    Chronic kidney disease (CKD) is a health problem in human immunodeficiency virus (HIV) population. Prediction of CKD in HIV patients needsto have done. This study aimis to identify the prevalence of CKD in HIV patients.Thisis a cross-sectional studyofmale and female, age 18-60 years old, diagnosedHIVat Wahidin Sudirohusodo & Hasanuddin University Hospital Makassar. Diagnosed as CKD if estimated glomerular filtration rate (eGFR) HIV patients included in the analyses. Distribution of CKD, showed 3 (3.5%) subjects with eGFRHIV populations in Makassar is still quite low.

  2. [Stoma care in patients with malignant disease].

    Science.gov (United States)

    Egawa, Akiko; Suwa, Katsuhito

    2013-12-01

    The aim of stoma care and rehabilitation is improving the quality of life of the patient with a stoma. There are more than 1,700 stoma specialist nurses in Japan, eg, enterostomal therapists(ET)and wound, ostomy, and continence nurses(WOCN), who are involved in the care of patients with stomas. In this manuscript, we describe our role in the care of patients with temporary/permanent stomas created for emergency disease and/or palliative care, and the adverse effects of various current chemotherapies.

  3. Pain Management for Sickle Cell Disease in the Pediatric Emergency Department: Medications and Hospitalization Trends.

    Science.gov (United States)

    Cacciotti, Chantel; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

    2017-10-01

    The majority of emergency department (ED) visits and hospitalizations for patients with sickle cell disease (SCD) are pain related. Adequate and timely pain management may improve quality of life and prevent worsening morbidities. We conducted a retrospective chart review of pediatric patients with SCD seen in the ED, selected by sickle cell-related ICD-9 codes. A total of 176 encounters were reviewed from 47 patients to record ED pain management and hospitalization trends. Mean time to pain medication administration was 63 minutes. Patients received combination (nonsteroidal anti-inflammatory drug [NSAID] + narcotic) pain medications for initial treatment at a minority of ED encounters (19%). A higher percentage of patients who received narcotics alone as initial treatment were hospitalized as compared with those who received combination treatment initially ( P= 0.0085). Improved patient education regarding home pain management as well as standardized ED guidelines for assessment and treatment of sickle cell pain may result in superior and more consistent patient care.

  4. Dyslipidemia, Kidney Disease, and Cardiovascular Disease in Diabetic Patients

    Science.gov (United States)

    Chen, Szu-chi; Tseng, Chin-Hsiao

    2013-01-01

    This article reviews the relationship between dyslipidemia, chronic kidney disease, and cardiovascular diseases in patients with diabetes. Diabetes mellitus is associated with complications in the cardiovascular and renal system, and is increasing in prevalence worldwide. Modification of the multifactorial risk factors, in particular dyslipidemia, has been suggested to reduce the rates of diabetes-related complications. Dyslipidemia in diabetes is a condition that includes hypertriglyceridemia, low high-density lipoprotein levels, and increased small and dense low-density lipoprotein particles. This condition is associated with higher cardiovascular risk and mortality in diabetic patients. Current treatment guidelines focus on lowering the low-density lipoprotein cholesterol level; multiple trials have confirmed the cardiovascular benefits of treatment with statins. Chronic kidney disease also contributes to dyslipidemia, and dyslipidemia in turn is related to the occurrence and progression of diabetic nephropathy. Different patterns of dyslipidemia are associated with different stages of diabetic nephropathy. Some trials have shown that treatment with statins not only decreased the risk of cardiovascular events, but also delayed the progression of diabetic nephropathy. However, studies using statins as the sole treatment of hyperlipidemia in patients on dialysis have not shown benefits with respect to cardiovascular risk. Diabetic patients with nephropathy have a higher risk of cardiovascular events than those without nephropathy. The degree of albuminuria and the reduction in estimated glomerular filtration rate are also correlated with the risk of cardiovascular events. Treatment with angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers to reduce albuminuria in diabetic patients has been shown to decrease the risk of cardiovascular morbidity and mortality. PMID:24380085

  5. Othello syndrome in patients with Parkinson's disease.

    Science.gov (United States)

    Georgiev, Dejan; Danieli, Aljosa; Ocepek, Lidija; Novak, Dominika; Zupancic-Kriznar, Nina; Trost, Maja; Pirtosek, Zvezdan

    2010-03-01

    Othello syndrome (OS) is an organic delusional disorder with prevailing jealousy symptoms presumably appearing as side effect of antiparkinsonian therapy. The clinical spectrum of psychiatric symptoms in Parkinson's disease (PD) is very wide, including symptoms of depression and anxiety, hallucinations, delusions, with prevalent paranoid symptoms, agitation, delirium and sleep disorders. At our knowledge, just a few cases of patients with PD and OS were reported till now. three neurologists working in a tertiary referral centre were asked to report cases of pathological jealousy as defined by the DSM IV criteria (Kaplan et al. 1994). The following data were collected retrospectively: sex, age at PD onset, age at OS onset, duration of PD, duration of PD treatment, duration of treatment with dopamine agonists (DAs), treatment of OS, past history of alcoholism, premorbid personality disorder, family history of psychiatric disorders and data about general cognitive condition. Five PD patients (three males) with OS were investigated. The mean age of the patients at the PD onset was 46.80+/-8.87 (SD), the mean age at the OS onset was 56.40+/-8.76 (SD). Before the onset of OS, all of them were taking dopamine agonists. The first patient was treated with pramipexole, apomorphine infusion and levodopa/carbidopa, the second with apomorphine infusion plus levodopa/carbidopa/entacapone, the third with pramipexole, the fourth and fifth with ropinirole. Decrease of dopamine agonist led to clinical improvement in three patients (complete reduction of the symptoms in two, reduction of symptoms in one patients). In two patients, the symptoms remained the same. In three patients atypical neuroleptics had to be added: clozapine in two and quetiapine in one patient. We believe that OS is a more common psychiatric side effect in PD patients on treatment with dopamine agonists than usually believed, particulary in those with early disease onset. It is a very disturbing symptom for

  6. Electrocardiographic characteristics of patients with chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Warnier, Miriam J; Rutten, Frans H; Numans, Mattijs E

    2013-01-01

    Patients with chronic obstructive pulmonary disease (COPD) are at increased risk of cardiovascular disease. Electrocardiography (ECG) carries information about cardiac disease and prognosis, but studies comparing ECG characteristics between patients with and without COPD are lacking. We related ECG...

  7. Electrocardiographic Characteristics of Patients with Chronic Obstructive Pulmonary Disease

    NARCIS (Netherlands)

    Warnier, M.J.; Rutten, F.H.; Numans, M.E.; Kors, J.A.; Tan, H.L.; de Boer, A.; Hoes, A.W.; de Bruin, M.L.

    2013-01-01

    Patients with chronic obstructive pulmonary disease (COPD) are at increased risk of cardiovascular disease. Electrocardiography (ECG) carries information about cardiac disease and prognosis, but studies comparing ECG characteristics between patients with and without COPD are lacking. We related ECG

  8. Electrocardiographic characteristics of patients with chronic obstructive pulmonary disease

    NARCIS (Netherlands)

    Warnier, Miriam J.; Rutten, Frans H.; Numans, Mattijs E.; Kors, Jan A.; Tan, Hanno L.; de Boer, Anthonius; Hoes, Arno W.; de Bruin, Marie L.

    2013-01-01

    Patients with chronic obstructive pulmonary disease (COPD) are at increased risk of cardiovascular disease. Electrocardiography (ECG) carries information about cardiac disease and prognosis, but studies comparing ECG characteristics between patients with and without COPD are lacking. We related ECG

  9. Asymmetrical Pedaling Patterns in Parkinson's Disease Patients

    Science.gov (United States)

    Penko, Amanda L.; Hirsch, Joshua R.; Voelcker-Rehage, Claudia; Martin, Philip E.; Blackburn, Gordon; Alberts, Jay L.

    2015-01-01

    Background Approximately 1.5 million Americans are affected by Parkinson's disease [1] which includes the symptoms of postural instability and gait dysfunction. Currently, clinical evaluations of postural instability and gait dysfunction consist of a subjective rater assessment of gait patterns using items from the Unified Parkinson's Disease Rating Scale, and assessments can be insensitive to the effectiveness of medical interventions. Current research suggests the importance of cycling for Parkinson's disease patients, and while Parkinson's gait has been evaluated in previous studies, little is known about lower extremity control during cycling. The purpose of this study is to examine the lower extremity coordination patterns of Parkinson's patients during cycling. Methods Twenty five participants, ages 44-72, with a clinical diagnosis of idiopathic Parkinson's disease participated in an exercise test on a cycle ergometer that was equipped with pedal force measurements. Crank torque, crank angle and power produced by right and left leg were measured throughout the test to calculate Symmetry Index at three stages of exercise (20 Watt, 60 Watt, maximum performance). Findings Decreases in Symmetry Index were observed for average power output in Parkinson's patients as workload increased. Maximum power Symmetry Index showed a significant difference in symmetry between performance at both the 20 Watt and 60 Watt stage and the maximal resistance stage. Minimum power Symmetry Index did not show significant differences across the stages of the test. While lower extremity asymmetries were present in Parkinson's patients during pedaling, these asymmetries did not correlate to postural instability and gait dysfunction Unified Parkinson's Disease Rating Scale scores. Interpretation This pedaling analysis allows for a more sensitive measure of lower extremity function than the Unified Parkinson's Disease Rating Scale and may help to provide unique insight into current and

  10. RN-1, a potent and selective lysine-specific demethylase 1 inhibitor, increases γ-globin expression, F reticulocytes, and F cells in a sickle cell disease mouse model.

    Science.gov (United States)

    Rivers, Angela; Vaitkus, Kestis; Ruiz, Maria Armila; Ibanez, Vinzon; Jagadeeswaran, Ramasamy; Kouznetsova, Tatiana; DeSimone, Joseph; Lavelle, Donald

    2015-07-01

    Increased levels of fetal hemoglobin are associated with decreased symptoms and increased lifespan in patients with sickle cell disease (SCD). Hydroxyurea, the only drug currently approved for SCD, is not effective in a large fraction of patients, and therefore, new agents are urgently needed. Recently it was found that lysine demethylase 1, an enzyme that removes monomethyl and dimethyl residues from the lysine 4 residue of histone H3, is a repressor of γ-globin gene expression. In this article, we have compared the ability of tranylcypromine (TCP) and a more potent TCP derivative, RN-1, to increase γ-globin expression in cultured baboon erythroid progenitor cells and in the SCD mouse model. The results indicate that the ability of RN-1 to induce F cells and γ-globin mRNA in SCD mice is similar to that of decitabine, the most powerful fetal hemoglobin-inducing drug known, and greater than that of either TCP or hydroxyurea. We conclude that RN-1 and other lysine demethylase 1 inhibitors may be promising new γ-globin-inducing agents for the treatment of SCD that warrant further studies in other preclinical models, such as nonhuman primates. Copyright © 2015 ISEH - International Society for Experimental Hematology. Published by Elsevier Inc. All rights reserved.

  11. Educational levels in patients with stargardt disease.

    Science.gov (United States)

    Anastasakis, Anastasios; Thobani, Azzrah; Fishman, Gerald A; McAnany, J Jason

    2010-11-01

    To assess the highest educational level attained by patients with Stargardt disease and clinically significant visual impairment. Cross-sectional assessment. Patients with Stargardt disease and clinically significant visual impairment (documented best-corrected visual acuity of 20/70 or worse in each eye either before or up to the age of 22 years) were included in the study. Information concerning the highest level of education attained was obtained for all participants by an interview. Of the 33 participants, 32 completed high school. Either an associate's or bachelor's degree was attained by 21 patients (63.6%), whereas 3 patients (9.1%) were enrolled in college at the time of the interview. Further, a postgraduate degree (master's or doctorate) was attained by 7 patients (21.2%). Our findings document that the potential for attaining a higher degree of academic education beyond high school does not seem to be precluded by clinically significant visual impairment in Stargardt patients. This information can be useful for visual practitioners when counseling these patients and their families. Copyright © 2010 Elsevier Inc. All rights reserved.

  12. Oral Hygiene in Patients with Parkinson's Disease.

    Science.gov (United States)

    Batista, Leonardo M; Portela de Oliveira, Millena Teles; Magalhaes, Wilrama B; Bastos, Poliana Lima

    2015-11-02

    Parkinson's disease is a chronic progressive neurodegenerative disorder with a multifactorial etiology. The symptoms are characterized by motor disorders - tremor, rigidity, bradykinesia and postural instability, which hinder oral hygiene. Oral and dental health in Parkinson's disease has been under-documented and findings are conflicting. Moreover, a number of dentists have limited experience regarding the management of these patients. This article reviews literature published within the last fifteen years, to better understand the impact of this disease in oral health. A literature search (MEDLINE and PUBMED), using keywords Parkinson Disease and Oral Hygiene, yielded 27 articles, from which 20 were selected. All of the articles were published in English in the last 15 years.

  13. Hemoglobin to Hematocrit Ratio: The Strongest Predictor of Femoral Head Osteonecrosis in Children With Sickle Cell Disease.

    Science.gov (United States)

    Worrall, Douglas; Smith-Whitley, Kim; Wells, Lawrence

    2016-03-01

    Femoral head osteonecrosis (ON) secondary to sickle cell disease (SCD) often progresses to femoral head collapse, requiring total hip arthroplasty. However, this treatment has a limited durability and patients with SCD have higher rates of complications, requiring multiple revision operations. Identifying risk factors linked to ON in SCD can facilitate earlier precollapse diagnosis and surgical treatment aimed at preservation of the native hip joint. Fifty-nine children treated at our institution between January 2001 and April 2012 with SCD and ON, as diagnosed by magnetic resonance imaging or radiographic imaging, were compared with age-matched and sickle cell phenotype-matched (SS, SC, Sβ, Sβ) controls with no evidence of ON. Two sided t-tests assuming unequal variances determined statistically risk factors and threshold values were assigned to calculate odds ratios. Systolic blood pressure (P=1.2×10, OR=3.68), diastolic blood pressure (P=0.0084, OR=1.41), weight in the SCD-SS population (P=0.04, OR=1.85), and hemoglobin (Hb) in the SCD-SS population (P=0.036, OR=2.56) were elevated in cases. Curiously, dividing the Hb by the hematocrit to serve as a clinical proxy for the mean corpuscular Hb concentration (MCHC) produced an excellent predictor of ON (P=2.06×10, OR=5.17), which was especially pronounced in the SCD-SS subpopulation (P=2.28×10, OR=8.65). Among children with SCD, the overall prevalence of ON was 9% (59/658) and the phenotype with the highest prevalence of ON was Sβ thalassemia with an ON prevalence of 11.1%. There was no observed correlation between ON and height, body mass index, cholesterol, mean corpuscular volume, hematocrit, or glucocorticoid use. These data support a novel clinical marker, the MCHC proxy, as the strongest predictor of ON in children with SCD. High-risk children should receive hip magnetic resonance imaging to diagnose early ON and facilitate interventions focused on hip preservation, forestalling, or possibly preventing

  14. Wheezing in Children with Sickle Cell Disease

    Science.gov (United States)

    Glassberg, Jeffrey A.; Strunk, Robert

    2014-01-01

    Purpose of review The purpose of this article is to provide a comprehensive review of wheezing in sickle cell disease (SCD) including epidemiology, pathophysiology, associations between wheezing and SCD morbidity and finally the clinical approach to evaluation and management of individuals with SCD who wheeze. Recent findings Wheezing is common in SCD and in some individuals represents an intrinsic component of SCD related lung disease rather than asthma. Emerging data suggest that regardless of the etiology, individuals with SCD and with recurrent wheezing are at increased risk for subsequent morbidity and premature mortality. We believe Individuals that acutely wheeze and have respiratory symptoms should be managed with a beta agonist and short term treatment of oral steroids, typically less than 3 days to attenuate rebound vaso-occlusive disease. For those that wheeze and have a history or examination associated with atopy, we consider asthma treatment and monitoring per NHLBI asthma guidelines. Summary Wheezing in SCD should be treated aggressively in both the acute setting and with controller medications. Prospective SCD-specific clinical trials will be necessary to address whether anti-inflammatory asthma therapies (leukotriene antagonists, inhaled corticosteroids) can safely mitigate the sequelae of wheezing in SCD. PMID:24370489

  15. Working Memory in Children With Neurocognitive Effects From Sickle Cell Disease: Contributions of the Central Executive and Processing Speed

    Science.gov (United States)

    Smith, Kelsey E.; Schatz, Jeffrey

    2017-01-01

    Children with sickle cell disease (SCD) are at risk for working memory deficits due to multiple disease processes. We assessed working memory abilities and related functions in 32 school-age children with SCD and 85 matched comparison children using Baddeley’s working memory model as a framework. Children with SCD performed worse than controls for working memory, central executive function, and processing/rehearsal speed. Central executive function was found to mediate the relationship between SCD status and working memory, but processing speed did not. Cognitive remediation strategies that focus on central executive processes may be important for remediating working memory deficits in SCD. PMID:27759435

  16. Cardiomyopathies as a Cause of Sudden Cardiac Death (SCD in Egypt: Recognition and Preventive Strategies Needed

    Directory of Open Access Journals (Sweden)

    Nora Fnon

    2016-06-01

    Full Text Available This study aimed at evaluating the epidemiological characteristics and pathological features of different types of cardiomyopathies in Egypt, highlighting the role of the forensic pathologist in identifying cases of cardiomyopathies and initiating for their families a possible genetic study aiming at prevention of sudden death. All cases with sudden cardiac death (SCD due to cardiomyopathies during the period from the beginning of January 2010 until the end of December 2014 (5 years were included in this study. All hearts underwent detailed gross and histological examination. Circumstances of death, medical history, and post-mortem pathological findings were thoroughly  investigated. Out of 535 cases of sudden cardiac death, there were 22 cases (4.1% diagnosed as having cardiomyopathies; sudden death was their first presentation. Eighteen cases (81.8% were male, with the 4th decade (11 cases, 50% being the most affected age; severe physical activity and exertion were evident in death circumstances of 14 cases (63.6%; pathological evaluation revealed that hypertrophic cardiomyopathy was the most frequent type, being diagnosed in 10 cases (45%. Cardiomyopathies are an infrequent cause of sudden cardiac death. Most deaths are in children and adults, so cases are of high social impact that demands multidisciplinary research and resources. In all cases of SCD, forensic autopsy should be done. Forensic study is the key to identifying an affected family and the starting point regarding assessing them.

  17. Chronic Opioid Therapy and Central Sensitization in Sickle Cell Disease.

    Science.gov (United States)

    Carroll, C Patrick; Lanzkron, Sophie; Haywood, Carlton; Kiley, Kasey; Pejsa, Megan; Moscou-Jackson, Gyasi; Haythornthwaite, Jennifer A; Campbell, Claudia M

    2016-07-01

    Chronic opioid therapy (COT) for chronic non-cancer pain is frequently debated, and its effectiveness is unproven in sickle cell disease (SCD). The authors conducted a descriptive study among 83 adult SCD patients and compared the severity of disease and pain symptoms among those who were prescribed COT (n=29) with those who were not using COT. All patients completed baseline laboratory pain assessment and questionnaires between January 2010 and June 2014. Thereafter, participants recorded daily pain, crises, function, and healthcare utilization for 90 days using electronic diaries. Analyses were conducted shortly after the final diary data collection period. Patients on COT did not differ on age, sex, or measures of disease severity. However, patients on COT exhibited greater levels of clinical pain (particularly non-crisis); central sensitization; and depression and increased diary measures of pain severity, function, and healthcare utilization on crisis and non-crisis diary days, as well as a greater proportion of days in crisis. Including depressive symptoms in multivariate models did not change the associations between COT and pain, interference, central sensitization, or utilization. Additionally, participants not on COT displayed the expected positive relationship between central sensitization and clinical pain, whereas those on COT demonstrated no such relationship, despite having both higher central sensitization and higher clinical pain. Overall, the results point out a high symptom burden in SCD patients on COT, including those on high-dose COT, and suggest that nociceptive processing in SCD patients on COT differs from those who are not. Copyright © 2016 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

  18. Nonmotor symptoms in patients with Parkinson disease

    Science.gov (United States)

    Zhang, Tie-mei; Yu, Shu-yang; Guo, Peng; Du, Yang; Hu, Yang; Piao, Ying-shan; Zuo, Li-jun; Lian, Teng-hong; Wang, Rui-dan; Yu, Qiu-jin; Jin, Zhao; Zhang, Wei

    2016-01-01

    Abstract Parkinson disease (PD) is usually accompanied by numerous nonmotor symptoms (NMS), such as neuropsychiatric symptoms, sleep disorders, autonomic dysfunctions, and sensory disturbances. However, it is not clear that the factors influencing the occurrence of NMS and its sequence with motor symptoms (MS). We conducted comprehensive assessments of NMS by using 13 scales in 1119 PD patients. A total of 70.8% PD patients present NMS. Olfactory dysfunction tends to occur in PD patients with older age, more severe depression, sleep problems, and autonomic dysfunctions. Older patients are more likely to have olfactory dysfunction before MS than younger patients. Rapid eye movement behavior disorder is more prone to happen in patients with older age, older onset age, more severe depression, sleep problems, and autonomic dysfunctions. Patients with rapid eye movement behavior disorder before MS are older in onset age than after group. Olfactory dysfunction, constipation, rapid eye movement behavior disorder, and depression, as early warning NMSs of PD, connected to each other. There is a clinical heterogeneity that older patients are more likely to have NMS before MS, while younger patients are opposite. PMID:27977578

  19. Heart failure in patients with kidney disease.

    Science.gov (United States)

    Tuegel, Courtney; Bansal, Nisha

    2017-12-01

    Heart failure (HF) is a leading cause of morbidity and mortality in patients with chronic kidney disease (CKD), and the population of CKD patients with concurrent HF continues to grow. The accurate diagnosis of HF is challenging in patients with CKD in part due to a lack of validated imaging and biomarkers specifically in this population. The pathophysiology between the heart and the kidneys is complex and bidirectional. Patients with CKD have greater prevalence of traditional HF risk factors as well as unique kidney-specific risk factors including malnutrition, acid-base alterations, uraemic toxins, bone mineral changes, anemia and myocardial stunning. These risk factors also contribute to the decline of kidney function seen in patients with subclinical and clinical HF. More targeted HF therapies may improve outcomes in patients with kidney disease as current HF therapies are underutilised in this population. Further work is also needed to develop novel HF therapies for the CKD population. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  20. Articular manifestations in patients with Lyme disease.

    Science.gov (United States)

    Vázquez-López, María Esther; Díez-Morrondo, Carolina; Sánchez-Andrade, Amalia; Pego-Reigosa, Robustiano; Díaz, Pablo; Castro-Gago, Manuel

    To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed. Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  1. Behavioral impact of sickle cell disease in young children with repeated hospitalization

    Directory of Open Access Journals (Sweden)

    Mohamed H Bakri

    2014-01-01

    Full Text Available Background: Sickle cell disease (SCD in children with a history of repeated hospitalization is distressing for children as well as their parents leading to anxiety and has negative effects on the psychological state of children and their families. Objective: The aim of the study was to determine the overall effect of SCD on the behavior of young children age 1½ to 5 years old who had repeated history of hospitalization, compared to a control group of healthy children attended a vaccination clinic. Patients and Methods: Thirty-five children of age 1½ to 5 years who have SCD and repeated history of hospitalization were recruited from pediatric clinic as the study group and matched with same number of healthy children who attended vaccination clinic, as a control group. Both groups were administered the child behavior checklist (CBCL 1½ to 5 years and diagnostic and statistical (DSM-oriented scale. Behavior data were collected through a semi-structured questionnaire. Results: Children who have SCD had statistically significant behavioral changes on CBCL compared to the control group: Anxiety/depression (65.2 vs. 55.1; P < 0.001, somatic complaint (66.7 vs. 54.4; P < 0.001 withdrawn (63.4 vs. 53.2; P < 0.001, aggressive behavior (60.4 vs. 56; P=0.04, and internalizing symptoms (64.7 vs. 51.5; P < 0.001, respectively. The DSM scale showed that children with SCD scored significantly higher in pervasive developmental disorder compared to the control group (60.9 vs. 53.9; P < 0.001 respectively. Conclusion: Children with SCD who had history of repeated hospitalization are at an increased risk of developing behavioral problems. Psychological counseling, social support, and proper pain management could minimize these behavioral consequences.

  2. Sleep-disordered breathing and nocturnal hypoxemia in young adults with sickle cell disease.

    Science.gov (United States)

    Whitesell, P L; Owoyemi, O; Oneal, P; Nouraie, M; Klings, E S; Rock, A; Mellman, T A; Berihun, T; Lavella, J; Taylor, R E; Perrine, S P

    2016-06-01

    Sleep-disordered breathing (SDB) is reported in up to 69% of adolescents and children with sickle cell disease (SCD) [1], but data regarding the prevalence of SDB in adults with SCD are limited. In order to obtain a preliminary assessment of the frequency and degree of sleep-related hypoxemia and potential associations with cardiovascular function in adults with SCD, we conducted overnight sleep studies, 6-min walk tests, echocardiograms, and hematologic and chemistry panels, calculated the Pittsburgh sleep quality index (PSQI), and conducted fatigue- and health-related quality-of-life measurement in 20 young adults with SCD visiting a sickle cell clinic for routine care. Sleep apnea, defined as an apnea-hypopnea index (AHI) > 5 events/h, was found in 50% of patients. Traditional clinical indicators, such as obesity, the presence of snoring, and reported sleep complaints, did not reliably differentiate them. The patients with AHI > 5 had higher mean systolic blood pressure (p = 0.03), evidence of impaired left ventricular diastolic function (i.e., increased mitral valve E/A ratio, p = 0.05), a trend toward higher reduction in 6-min walk distances (p = 0.06), and lower health-related quality-of-life scores (p ≤ 0.01). Three of nine patients with more severe anemia (total Hb hypoxia and improve outcomes. Copyright © 2016 Elsevier B.V. All rights reserved.

  3. Overview of chelation recommendations for thalassaemia and sickle cell disease

    Directory of Open Access Journals (Sweden)

    Banu Kaya

    2014-12-01

    Full Text Available The long term consequences of iron toxicity are mostly reversible with effective iron chelation therapy. Recommendations for use of chelation therapy in transfusion dependent thalassaemia (TDT, sickle cell disease (SCD and non transfusion dependent thalassaemia (NTDT continue to evolve as our knowledge and clinical experience increases. Improved chelation options including drug combinations and a better understanding of condition specific factors may help to improve efficiency of chelation regimens and meet the needs of patients more effectively.

  4. Menopause in patients with autoimmune diseases.

    Science.gov (United States)

    Sammaritano, Lisa R

    2012-05-01

    Menopause represents a time of significant clinical and hormonal change. Given the incompletely understood interrelationship between gonadal hormones and the immune system, it is possible that menopause may affect, or be affected by, the presence of autoimmune disease. Menopause has significant effects on a number of organ systems including the cardiovascular, skeletal, central nervous and genitourinary systems. Premature ovarian failure is related to autoimmune factors in a proportion of cases, but is not generally associated with systemic autoimmune disorders unless secondary to treatment with alkylating agents such as cyclophosphamide. Gonadal hormones have been suggested to relate to both onset and activity in certain autoimmune diseases. For patients with systemic lupus erythematosus, disease activity is lower, and damage accrual higher, in the postmenopausal years, but the mechanisms responsible may relate to age, duration of disease, menopause changes, long-term effects of therapy, or some combination of these factors. Early menopause is a risk factor for rheumatoid arthritis, and post-menopausal status in RA is associated with greater damage and disability. Systemic sclerosis and giant cell arteritis may also be adversely affected by onset of menopause. Importantly, autoimmune disease and menopause may have an additive effect on risk for common comorbidities such as cardiovascular disease and osteoporosis. Copyright © 2011 Elsevier B.V. All rights reserved.

  5. Living With Prophylactic ICD Therapy and the Risk of Sudden Cardiac Death: How Patients Negotiate Solutions and Problems.

    Science.gov (United States)

    Grew, Julie Christina

    2017-12-01

    Prophylactic implantable cardioverter defibrillator (ICD) therapy treats potentially lethal cardiac arrhythmias in patients who have not previously experienced such but are at considerable risk due to underlying heart disease. Most patients are unaware of their risk of sudden cardiac death (SCD) until the ICD is introduced to them. Thus, the problem of risk of death and the solution of ICD therapy are presented simultaneously. Based on ethnographic fieldwork in Danish hospitals, this article illustrates how clinicians narrate prophylactic ICD therapy as a benign therapy preventing risk of death and providing the good life. However, risk of SCD is not the most pressing problem for the patients. The article argues that the solution of ICD therapy ignores patients' experience of living with severe heart disease and introduces the risk of shock therapy. For patients, a good life does not equal absence of risk of death but a life without heart disease.

  6. Proceedings of a Sickle Cell Disease Ontology workshop — Towards the first comprehensive ontology for Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Nicola Mulder

    2016-06-01

    The SCD community and H3ABioNet members joined forces at a recent SCD Ontology workshop to develop an ontology covering aspects of SCD under the classes: phenotype, diagnostics, therapeutics, quality of life, disease modifiers and disease stage. The aim of the workshop was for participants to contribute their expertise to development of the structure and contents of the SCD ontology. Here we describe the proceedings of the Sickle Cell Disease Ontology Workshop held in Cape Town South Africa in February 2016 and its outcomes. The objective of the workshop was to bring together experts in SCD from around the world to contribute their expertise to the development of various aspects of the SCD ontology.

  7. Circulating sCD36 is associated with unhealthy fat distribution and elevated circulating triglycerides in morbidly obese individuals

    DEFF Research Database (Denmark)

    Knøsgaard, L; Thomsen, S B; Støckel, M

    2014-01-01

    with the metabolic syndrome had a higher LF% and higher levels of the inflammatory biomarker YKL-40 (P=0.003 and P=0.014) as well as a tendency towards higher levels of sCD36. CONCLUSION: sCD36 was reduced by weight loss and associated with an unhealthy fat accumulation and circulating triglycerides, which support......BACKGROUND: The recently identified circulating sCD36 has been proposed to reflect tissue CD36 expression, and is upregulated in case of obesity, insulin resistance and hepatic steatosis. The aim of this study was to explore the effect of weight loss secondary to bariatric surgery in relation to s......CD36 among morbidly obese individuals. Furthermore, we investigated the levels of sCD36 in relation to obesity-related metabolic complications, low-grade inflammation and fat distribution. METHODS: Twenty morbidly obese individuals (body mass index (BMI) 43.0±5.4 kg m(-2)) with a referral to Roux...

  8. Isosorbide dinitrate in coronary diseases patients

    International Nuclear Information System (INIS)

    Savioli, R.M.; Federico, W.A.; Britto, F.S. de; Nassif, M.; Alonso, G.; Martins, L.R.F.; Del Nero Junior, E.

    1982-01-01

    Twelve patients with coronary artery disease and stable angina pectoris were studied. The patients were submited to radioisotopic cineventriculographic study with tecnecio-99m during isotonic exercise in supine position using adapted ergometric bycle. The tests were performed after 30 minutes of rest; 30 minutes after sub-lingual admnistration of 2,5 mg of isosorbide dinitrate and after 30 minutes of sub-lingual admnistration of 5 mg of isosorbide dinitrate. The following variables were analysed: a)ST segment variations; b)occurence of pain during exercise; c)wall ventricular motion; d)left ventricular ejection fraction and their variations. (M.A.C.) [pt

  9. Cardiovascular disease in patients with rheumatoid arthritis

    DEFF Research Database (Denmark)

    Naranjo, Antonio; Sokka, Tuulikki; Descalzo, Miguel

    2008-01-01

    hypertension, hyperlipidemia, diabetes mellitus, smoking, physical inactivity, and body mass index. Unadjusted and adjusted hazard ratios (HRs) (95% confidence interval [CI]) for CV morbidity were calculated using Cox proportional hazard regression models. RESULTS: Between January 2005 and October 2006......ABSTRACT: INTRODUCTION: We analyzed the prevalence of cardiovascular (CV) disease in patients with rheumatoid arthritis (RA) and its association with traditional CV risk factors, clinical features of RA, and the use of disease-modifying antirheumatic drugs (DMARDs) in a multinational cross......, the QUEST-RA project included 4,363 patients from 48 sites in 15 countries; 78% were female, more than 90% were Caucasian, and the mean age was 57 years. The prevalence for lifetime CV events in the entire sample was 3.2% for myocardial infarction, 1.9% for stroke, and 9.3% for any CV event. The prevalence...

  10. [Pathological gambling in patients with Parkinson disease].

    Science.gov (United States)

    Nadeau, Dominic; Giroux, Isabelle; Dufour, Julie; Simard, Martine

    2012-01-01

    Pathological gambling implies an inadequate, persistent and chronic practice of gambling which has major impact on affected individuals, their families and the society (APA, 2003). Many risk factors of social, psychological and biological nature contribute to the development of pathological gambling. New populations have been found to be at risk to develop pathological gambling : patients who suffer of Parkinson Disease's. Development of pathological gambling in those patients would mainly be related to the medication used to treat Parkinson Disease's, dopaminergic agonist. Numerous neurological studies have been conducted on the subject since recent years, but few psychologists know this problem and almost no studies have been made to understand the psychological aspect of this problem.

  11. Sudden Cardiac Death and Coronary Artery Disease —Pathophysiology and Risk Stratification

    Directory of Open Access Journals (Sweden)

    Nabil EI-Sherif, MD

    2009-01-01

    Full Text Available Management of Sudden Cardiac Death (SCD is undergoing a radical change in direction. It is becoming increasingly appreciated that besides depressed left ventricular systolic function and the conventional risk stratification tools, new markers for plaque vulnerability, enhanced thrombogenesis, specific genetic alterations of the autonomic nervous system, cardiac sarcolemmal and contractile proteins, and familial clustering may better segregate patients with atherosclerotic coronary artery disease who are at high risk for SCD from those who may suffer from nonfatal ischemic events. Better understanding of pathophysiological processes, such as postmyocardial infarction remodeling, the transition from compensated hypertrophy to heart failure, and the increased cardiovascular risk of coronary artery disease in the presence of diabetes or even a prediabetic state will help to improve both risk stratification and management. The rapidly developing fields of microchips technology and proteomics may allow rapid and cost-effective mass screening of multiple risk factors for SCD. The ultimate goal is to identify novel methods for risk stratification, risk modification, and prevention of SCD that could be applied to the general public at large.

  12. Computed tomography in Minamata disease

    Energy Technology Data Exchange (ETDEWEB)

    Imamura, Shigehiro (Kumamoto Univ. (Japan). School of Medicine)

    1983-03-01

    Nine cases of Minamata disease (MD) were examined by CT scan and the results were compared with those of 40 cases of spinocerebellar degenerations (SCD) and age-matched 70 controls. Forty cases of SCD were classified into 5 types; 9 OPCA, 14 LCCA, 9 cerebellospinal form, 4 hereditary spastic paraplegia, and 4 Friedreich's ataxia according to their clinical manifestations. CTs in MD, compared with those in SCD and normal controls, was characterized as follows; 1) All 9 cases of MD showed a symmetrical ''belt-like'' low density area in bilateral visual cortices with enlargement of posterior horns of the lateral ventricles, corresponding well with the severity of the concentric constriction of visual fields. 2) Three out of 9 MD patients showed a prominent enlargement of cerebral sulci localized around the central sulci. It is strongly suggested that sensory impairment in MD correlates not only with the lesion of the peripheral nerve, but also with that of the sensory cortex. 3) As well as OPCA and LCCA, all 9 cases of MD showed atrophy of the vermis and cerebellar hemispheres. However, prominent enlargement of the cerebellar vallecula was a characteristic pattern in MD. Correlation of cerebellar atrophy with the severity of clinical symptoms, such as dysarthria and incoordination, was not apparent. 4) Atrophy of the brain stem and cerebellar peduncle in MD was mild or slight, in contrast to OPCA which revealed a prominent atrophy of these portions.

  13. Spiritual Needs of Patients with Chronic Diseases

    Directory of Open Access Journals (Sweden)

    Harold G. Koenig

    2010-11-01

    Full Text Available For many patients confronted with chronic diseases, spirituality/religiosity is an important resource for coping. Patients often report unmet spiritual and existential needs, and spiritual support is also associated with better quality of life. Caring for spiritual, existential and psychosocial needs is not only relevant to patients at the end of their life but also to those suffering from long-term chronic illnesses. Spiritual needs may not always be associated with life satisfaction, but sometimes with anxiety, and can be interpreted as the patients’ longing for spiritual well-being. The needs for peace, health and social support are universal human needs and are of special importance to patients with long lasting courses of disease. The factor, Actively Giving, may be of particular importance because it can be interpreted as patients’ intention to leave the role of a `passive sufferer´ to become an active, self-actualizing, giving individual. One can identify four core dimensions of spiritual needs, i.e., Connection, Peace, Meaning/Purpose, and Transcendence, which can be attributed to underlying psychosocial, emotional, existential, and religious needs. The proposed model can provide a conceptual framework for further research and clinical practice. In fact, health care that addresses patients’ physical, emotional, social, existential and spiritual needs (referring to a bio-psychosocial-spiritual model of health care will contribute to patients’ improvement and recovery. Nevertheless, there are several barriers in the health care system that makes it difficult to adequately address these needs.

  14. [Psychopharmacotherapy in patients with cardiovascular diseases].

    Science.gov (United States)

    Cordes, J; Lange-Asschenfeldt, C; Hiemke, C; Kahl, K G

    2012-11-01

    Increased cardiometabolic morbidity and increased overall mortality has been observed in patients with severe mental disorders. Therefore, cardiometabolic safety is an important issue in the treatment of patients with psychiatric disorders, in particular in patients with comorbid cardiometabolic diseases. Frequent adverse side effects include disturbances of lipid and glucose metabolism, body weight changes and alterations of the QTc interval. Dependent on the particular substance used and on factors concerning individual vulnerability, these side effects vary in relative frequency. Therefore, regular monitoring is recommended including ECG. Furthermore, interactions between different medicaments may occur, either leading to enhanced or decreased drug concentrations. Prior to psychopharmacological treatment, proper cardiological treatment is recommended. The management of cardiovascular risks under psychopharmacology requires interdisciplinary cooperation between the cardiologist, general practitioner and psychiatrist.

  15. Sleepwalking in patients with Parkinson disease.

    Science.gov (United States)

    Poryazova, Rositsa; Waldvogel, Daniel; Bassetti, Claudio L

    2007-10-01

    To report the occurrence of adult-onset (de novo) sleepwalking in a series of 6 patients with idiopathic Parkinson disease (PD). Case series. Outpatient clinic for movement disorders. Of 165 consecutive patients with PD seen for 2 years, 6 patients with adult-onset sleepwalking were identified. These patients underwent a systematic clinical assessment of their extrapyramidal and sleep problems, which included standard questionnaires, clinical examination, and estimation of PD severity (motor score of the Unified PD Rating Scale and Hoehn and Yahr stage). Five of 6 patients had a video-polysomnography recording that was scored according to international criteria. Patients included 3 women and 3 men with a mean (+/-SD) age of 66 +/- 12 years (range, 46-78 years). The mean (+/-SD) Unified PD Rating Scale score was 25 +/- 9 (range, 10-35) and the mean (+/-SD) Hoehn and Yahr stage was 2.5 +/- 1.0 (range, 1.0-4.0). Medications in these patients included levodopa (n = 6), dopamine agonists (n = 4), selective serotonin reuptake inhibitor antidepressants (n = 3), and hypnotics (n = 3). All patients had at least 1 concomitant sleep-wake disorder, including rapid eye movement sleep behavior disorder (n = 4) and insomnia (n = 4). In 2 of 6 patients, the latency between onset of PD and appearance of sleepwalking was more than 4 years. Neurodegenerative changes associated with PD at the brainstem level can affect the "ascending" control of state transition (leading to dissociated arousals from non-rapid eye movement and/or rapid eye movement sleep) and the "descending" control of locomotion and muscle tone, together giving rise to various sleep-associated behavioral disturbances including sleepwalking, rapid eye movement sleep behavior disorder, and overlap parasomnia.

  16. [Osteopenia in patients with Crohn disease].

    Science.gov (United States)

    Cheour, Elhem; Hamdi, Wafa; Sahli, Héla; Landolsi, Faten; Fekih, Monia; Meddeb, Nihel; Boubaker, Jalel; Filali, Azza; Sellami, Slaheddine

    2007-11-01

    Osteoporosis and osteopenia are frequently reported during chronic inflammatory bowel diseases, particularly in Crohn disease (CD). To determine the frequency of osteoporosis and osteopenia of patients with CD and to study associated risk factors. A forward-looking study was performed about 56 cases of CD, 34 men and 22 women, aged 32 + 10.4 years (18-54 years), with no other disorders affecting osseous metabolism. A biphotonic X-rays absorptiometry densitometry (DEXA) was performed at femoral neck and lumbar spine. A multivariate statistical analysis was performed to check for risk factors in osseous mineral density. Osteoporosis and osteopenia are noticed with respective frequency of 35.7 % and 23.2 %. A statistically significant association is found between low osseous density on one hand and physical mass index (IMC), localisation on large bowel of the disease and corticotherapy on the other hand. The IMC was a risk factor independent from the two other factors. Under nutrition, with IMC 18 kg/m (p = 0.03, Odds ratio = 3.4). Among risk factors involved in the osteoporosis during CD, the nutritional status plays an important role which must be taken into account in the treatment of these patients.

  17. Auditory Dysfunction in Patients with Cerebrovascular Disease

    Directory of Open Access Journals (Sweden)

    Sadaharu Tabuchi

    2014-01-01

    Full Text Available Auditory dysfunction is a common clinical symptom that can induce profound effects on the quality of life of those affected. Cerebrovascular disease (CVD is the most prevalent neurological disorder today, but it has generally been considered a rare cause of auditory dysfunction. However, a substantial proportion of patients with stroke might have auditory dysfunction that has been underestimated due to difficulties with evaluation. The present study reviews relationships between auditory dysfunction and types of CVD including cerebral infarction, intracerebral hemorrhage, subarachnoid hemorrhage, cerebrovascular malformation, moyamoya disease, and superficial siderosis. Recent advances in the etiology, anatomy, and strategies to diagnose and treat these conditions are described. The numbers of patients with CVD accompanied by auditory dysfunction will increase as the population ages. Cerebrovascular diseases often include the auditory system, resulting in various types of auditory dysfunctions, such as unilateral or bilateral deafness, cortical deafness, pure word deafness, auditory agnosia, and auditory hallucinations, some of which are subtle and can only be detected by precise psychoacoustic and electrophysiological testing. The contribution of CVD to auditory dysfunction needs to be understood because CVD can be fatal if overlooked.

  18. Auditory dysfunction in patients with Huntington's disease.

    Science.gov (United States)

    Profant, Oliver; Roth, Jan; Bureš, Zbyněk; Balogová, Zuzana; Lišková, Irena; Betka, Jan; Syka, Josef

    2017-10-01

    Huntington's disease (HD) is an autosomal, dominantly inherited, neurodegenerative disease. The main clinical features are motor impairment, progressive cognitive deterioration and behavioral changes. The aim of our study was to find out whether patients with HD suffer from disorders of the auditory system. A group of 17 genetically verified patients (11 males, 6 females) with various stages of HD (examined by UHDRS - motor part and total functional capacity, MMSE for cognitive functions) underwent an audiological examination (high frequency pure tone audiometry, otoacoustic emissions, speech audiometry, speech audiometry in babble noise, auditory brainstem responses). Additionally, 5 patients underwent a more extensive audiological examination, focused on central auditory processing. The results were compared with a group of age-matched healthy volunteers. Our results show that HD patients have physiologic hearing thresholds, otoacoustic emissions and auditory brainstem responses; however, they display a significant decrease in speech understanding, especially under demanding conditions (speech in noise) compared to age-matched controls. Additional auditory tests also show deficits in sound source localization, based on temporal and intensity cues. We also observed a statistically significant correlation between the perception of speech in noise, and motoric and cognitive functions. However, a correlation between genetic predisposition (number of triplets) and function of inner ear was not found. We conclude that HD negatively influences the function of the central part of the auditory system at cortical and subcortical levels, altering predominantly speech processing and sound source lateralization. We have thoroughly characterized auditory pathology in patients with HD that suggests involvement of central auditory and cognitive areas. Copyright © 2017. Published by Elsevier B.V.

  19. Caring for Patients With Intractable Neurological Diseases

    Directory of Open Access Journals (Sweden)

    Masako Nagase

    2014-08-01

    Full Text Available This is a qualitative descriptive study examining nurses’ attitudes about caring for patients with intractable neurological diseases, with a focus on dedication and conflicts. Semistructured interviews were conducted on 11 nurses with more than 5 years of clinical experience in addition to more than 3 years of experience in neurology wards. Senior nursing officers from each hospital selected the participants. In general, these nurses expressed distress over the inevitable progression of disease. Nurses talked about the “basis of dedication,” “conflicts with dedication,” “reorganization for maintaining dedication,” and “the reason for the change from conflict to commitment.” “Reorganization for maintaining dedication” meant that nurses were able to handle the prospect of rededicating themselves to their patients. Furthermore, “the reason for the change from conflict to commitment” referred to events that changed nurses’ outlooks on nursing care, their pride as nurses, or their learning experiences. They felt dedicated and conflicted both simultaneously and separately. While committing to their patients’ physical care, nurses were empowered to think positively and treat patients with dignity in spite of the care taking much time and effort, as well as entailing considerable risk.

  20. Cardiovascular diseases among patients with schizophrenia.

    Science.gov (United States)

    Azad, Muhammad Chanchal; Shoesmith, Wendy Diana; Al Mamun, Mohammad; Abdullah, Ahmad Faris; Naing, Daw Khin Saw; Phanindranath, Mahadasa; Turin, Tanvir Chowdhury

    2016-02-01

    The presence of comorbid physical illnesses especially, cardiovascular diseases (CVD) in schizophrenia is a growing area of concern in recent years. In order to reduce disease burden, to improve quality of life and to provide holistic care, it is important to know about the relationship between schizophrenia and CVD. The objective of this review is to explore the extent of CVD problems, relevant risk factors and potential measures for early diagnosis and prevention of CVD among patients with schizophrenia. Worldwide studies show that patients with schizophrenia have a higher mortality and lower life expectancy than the general population. CVD is the leading cause of increased mortality in schizophrenia. Common CVD risk factors in schizophrenia include metabolic syndrome, sedentary behaviour, tobacco smoking, effects of antipsychotics, long chain omega-3 fatty acid deficiency and shared genetics between CVD and schizophrenia. The potential methods for early detection and prevention of CVD in schizophrenia are also discussed. Though the patients with schizophrenia form a high risk group for CVD, consensus guidelines for early detection and prevention of CVD in schizophrenia are lacking. Comorbidity of CVD in schizophrenia needs more serious attention by clinicians and researchers. Copyright © 2015 Elsevier B.V. All rights reserved.

  1. Minireview: Clinical severity in sickle cell disease: the challenges of definition and prognostication.

    Science.gov (United States)

    Quinn, Charles T

    2016-04-01

    Sickle cell disease (SCD) is a monogenic, yet highly phenotypically variable disease with multisystem pathology. This manuscript provides an overview of many of the known determinants, modifiers, and correlates of disease severity in SCD. Despite this wealth of data, modeling the variable and multisystem pathology of SCD continues to be difficult. The current status of prediction of specific adverse outcomes and global disease severity in SCD is also reviewed, highlighting recent successes and ongoing challenges. © 2016 by the Society for Experimental Biology and Medicine.

  2. Olfactory training in patients with Parkinson's disease.

    Directory of Open Access Journals (Sweden)

    Antje Haehner

    Full Text Available OBJECTIVE: Decrease of olfactory function in Parkinson's disease (PD is a well-investigated fact. Studies indicate that pharmacological treatment of PD fails to restore olfactory function in PD patients. The aim of this investigation was whether patients with PD would benefit from "training" with odors in terms of an improvement of their general olfactory function. It has been hypothesized that olfactory training should produce both an improved sensitivity towards the odors used in the training process and an overall increase of olfactory function. METHODS: We recruited 70 subjects with PD and olfactory loss into this single-center, prospective, controlled non-blinded study. Thirty-five patients were assigned to the olfactory training group and 35 subjects to the control group (no training. Olfactory training was performed over a period of 12 weeks while patients exposed themselves twice daily to four odors (phenyl ethyl alcohol: rose, eucalyptol: eucalyptus, citronellal: lemon, and eugenol: cloves. Olfactory testing was performed before and after training using the "Sniffin' Sticks" (thresholds for phenyl ethyl alcohol, tests for odor discrimination, and odor identification in addition to threshold tests for the odors used in the training process. RESULTS: Compared to baseline, trained PD patients experienced a significant increase in their olfactory function, which was observed for the Sniffin' Sticks test score and for thresholds for the odors used in the training process. Olfactory function was unchanged in PD patients who did not perform olfactory training. CONCLUSION: The present results indicate that olfactory training may increase olfactory sensitivity in PD patients.

  3. Splenectomy for hematological diseases: The Qatif Central HospitalExperience

    International Nuclear Information System (INIS)

    Al-Salem, Ahmed H.; Naserullah, Z.; Qaisaruddin, S.; Al-Dabbous, I.; Al-Abkari, H.; Al-Jama, A.; Al-Faraj, A.; Yassin, Yassin M.

    1999-01-01

    In the Eastern Province of Saudi Arabia, an area known for varioushemoglobinopathies, splenectomy is performed rather frequently. This study isan analysis of our experience with splenectomy performed for varioushematological disorders between 1988 and 1997, outlining the indications,complications and outcome. This is a retrospective analysis of all patientswho had splenectomy at our hospital during this period. One hundred andforty-three patients were treated for various hematological disorders at ourhospital. These disorders included sickle cell disease (SCD) (100 patients),sickle thalassemia (S-B-thalassemia) (13 ITP) (5 patients), Gaucher's disease(2 patients), hereditary spherocytosis (1 patient), autoimmune hemolyticanemia (1 patient), thalssemia intermediate (2 patients) and chronic myeloidleukemia (1 patient). The indications for splenectomy in those with SCD andthalassemia were: hypersplenism (26 patients), major splenic sequestrationcrisis (50 patients), splenic abscess (12 patients), and massive splenicinfarction (2 patients). Splenectomy in these patients was beneficial inreducing their transfusion requirements and its attendant risks, eliminatingthe discomfort from mechanical pressure of the enlarged spleen, avoiding therisks of acute splenic sequestration crisis, and managing splenic abscess.For those with Thalassemia, total splenectomy was beneficial in reducingtheir transfusion requirements, while partial splenectomy was beneficial onlyas a temporary measure, as regrowth of splenic remnant in these patientssubsequently led to increase in their transfusion requirements. Those withITP, hereditary spherocytosis, and autoimmune hemolytic anemia showedexcellent response following splenectomy. There was no mortality, and thepostoperative morbidity was 5.6%. With careful perioperative management,splenectomy is both safe and beneficial in a selected group of patients withhematological diseases. (author)

  4. Detection of arousals in Parkinson's disease patients

    DEFF Research Database (Denmark)

    Sørensen, Gertrud Laura; Kempfner, Jacob; Jennum, Poul

    2011-01-01

    suffering from Parkinson's disease (PD). The proposed algorithm uses features from EEG, EMG and the manual sleep stage scoring as input to a feed-forward artificial neural network (ANN). The performance of the algorithm has been assessed using polysomnographic (PSG) recordings from a total of 8 patients...... diagnosed with PD. The performance of the algorithm was validated using the leave-one-out method resulting in a sensitivity of 89.8 % and a positive predictive value (PPV) of 88.8 %. This result is high compared to previous presented arousal detection algorithms....

  5. Impairment of myocardial perfusion in children with sickle cell disease; Alteration de la perfusion myocardique chez l'enfant drepanocytaire

    Energy Technology Data Exchange (ETDEWEB)

    Maunoury, C. [Hopital Necker-Enfants-Malades, Service de Medecine Nucleaire, 75 - Paris (France); Acar, P. [Centre Hospitalier Universitaire, Hopital des Enfants, Service de Cardiologie Pediatrique, 31 - Toulouse (France); Montalembert, M. de [Hopital Necker-Enfants-Malades, Service de Pediatrie Generale, 75 - Paris (France)

    2003-10-01

    While brain, bone and spleen strokes are well documented in children with sickle cell disease (SCD), impairment of myocardial perfusion is an unknown complication. Non invasive techniques such as exercise testing and echocardiography have a low sensitivity to detect myocardial ischemia in patients with SCD. We have prospectively assessed myocardial perfusion with Tl-201 SPECT in 23 patients with SCD (10 female, 13 male, mean age 12 {+-} 5 years). Myocardial SPECT was performed after stress and 3 hours later after reinjection on a single head gamma camera equipped with a LEAP collimator (64 x 64 matrix size format, 30 projections over 180 deg C, 30 seconds per step). Left ventricular ejection fraction (LVEF) was assessed by equilibrium radionuclide angiography at rest on the same day. Myocardial perfusion was impaired in 14/23 patients: 9 reversible defects and 5 fixed defects. The left ventricular cavity was dilated in 14/23 patients. The mean LVEF was 63 {+-} 9%. There was no relationship between myocardial perfusion and left ventricular dilation or function. The frequent impairment of myocardial perfusion in children with SCD could lead to suggest a treatment with hydroxyurea, an improvement of perfusion can be noted with hydroxyurea. (author)

  6. Interventions in patients with thyroid disease

    International Nuclear Information System (INIS)

    Sisson, J.C.

    1985-01-01

    Because sodium iodide I 131 was the first radiopharmaceutical available for clinical use, and because thyroid hormonogenesis is dependent on iodide, the earliest tests in nuclear medicine were aimed at the diagnosis of thyroid diseases. Two types of the early thyroid tests required intervention - pharamacologic manipulation of the patient - to express diagnostic information: (1) the suppression test in which thyroid hormone was given, and (2) the stimulation test wherein thyrotropin (TSH) was injected. As happens in the evolution of medical practice, newer procedures replace the old, and both the suppression and stimulation tests of thyroid function now are rarely used; the data sought can usually be obtained by other safer or more accurate procedures. However, a suppression test or a stimulation test may still be of indispensible value in certain patients

  7. Sickle cell disease in childhood in Madina

    International Nuclear Information System (INIS)

    Hawasawi, Zakaria M.; Nabi, G.; Al-Magamci, M.S.F.; Awad, Khalid S.

    1998-01-01

    Sickle cell disease (SCD) is a common disease in Saudi Arabia, with ahigh prevalence in the Eastern and Southern regions. This study reports on 53cases of SCD encountered in the Madina area. In a retrospective study of 6000pediatric patients, 53 children (0.88%) with sickle cell disease wereadmitted in the Maternity and Children's Hospital Madina, between November1990 and October 1991. Of these, 39 patients (73.58%) were Saudis and 14(26.41%) were non-Saudis. Thirty-six patients were homozygous SS and 17 weresickle thalassemic. The main causes of admission were vaso-occlusive crisis(77.35%), infection (67.92%), acute chest syndrome (22.64%), anemia (12.6%)and cerebrovascular accident (9.43%). The lowest and highest age groupsrecorded in this study were six months and 12 years, respectively. About 70%of patients are still being followed-up, and none of the patients has died.This disease is one of the major causes of morbidity in this region of SaudiArabia. Measures required include neonatal screening programs for the earlydetection of the disease as well as research into new drugs to counter thedisease. (author)

  8. Elevated tricuspid regurgitant jet velocity, reduced forced expiratory volume in 1 second, and mortality in adults with sickle cell disease.

    Science.gov (United States)

    Chaturvedi, Shruti; Labib Ghafuri, Djamila; Kassim, Adetola; Rodeghier, Mark; DeBaun, Michael R

    2017-02-01

    Cardiopulmonary disease is the leading cause of mortality in adults with sickle cell disease (SCD). Elevated tricuspid regurgitant jet velocity (TRJV) and reduced forced expiratory volume in 1 second (FEV 1 ) %predicted are associated with early mortality in SCD; however their relationship and combined effect on survival is unknown. We investigated the relationship between TRJV and FEV 1 %predicted, and their combined effect on mortality, in a retrospective cohort of 189 adults with SCD who underwent both pulmonary function testing and echocardiography. Nineteen (9.9%) of 189 patients died over a median follow-up of 1.4 years; cardiopulmonary disease was the major cause of death in 52.6%. FEV 1 %predicted was negatively associated with TRJV (Spearman rho, -0.34, P 70% [45.8% versus 17.1%; odds ratio (OR) 4.1 (95% Confidence interval ([CI] 2.1-8.0); P = 0.001]. In a multivariable cox regression model, the combination of TRJV ≥2.5 m/second and FEV 1 %predicted ≤70% predicted earlier mortality [hazard ratio (HR) 4.97 (95% CI 1.30-18.91; P = 0.019)] after adjusting for age, sex, and nephropathy. Both FEV 1 %predicted ≤70% and TRJV ≥2.5 m/second were independently associated with nephropathy [OR 4.48 (95% CI 1.51-13.31); P = 0.004] and [OR 3.27 (95% CI 1.19-9.00); P = 0.017], respectively. In conclusion, pulmonary and cardiac impairment are associated with, and contribute to mortality in SCD. Therapies aimed at improving reduced FEV 1 %predicted and elevated TRJV could improve survival in patients with SCD. Am. J. Hematol. 92:125-130, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. Self-Reported Physical Activity and Exercise Patterns in Children With Sickle Cell Disease.

    Science.gov (United States)

    Omwanghe, Osarhiemen A; Muntz, Devin S; Kwon, Soyang; Montgomery, Simone; Kemiki, Opeyemi; Hsu, Lewis L; Thompson, Alexis A; Liem, Robert I

    2017-08-01

    Sickle cell disease (SCD) significantly affects physical functioning. We examined physical activity (PA) patterns in children with SCD versus a national sample and factors associated with PA and participation in physical education and organized sports. One hundred children with SCD completed a 58-item survey with questions from the 2009-2010 National Health and Nutrition Examination Survey (NHANES) Physical Activity Questionnaire and others on physical education and sports, disease impact, and physical functioning. Compared with NHANES participants, more children with SCD (67 vs 42%, p physical education and sports, respectively. Greater disease impact on PA and physical functioning were associated with lower participation. Children with SCD are active at moderate to vigorous intensity for shorter durations. Negative personal beliefs about disease impact and poor physical functioning represent barriers to PA in SCD.

  10. Disease-Related Knowledge and Information Needs Among Inflammatory Bowel Disease Patients in Korea.

    Science.gov (United States)

    Yoo, Yang-Sook; Cho, Ok-Hee; Cha, Kyeong-Sook

    2015-01-01

    The aim of this study was to identify disease-related knowledge and information needs of patients with inflammatory bowel disease. The 313 patients (Crohn disease: n = 169, colitis: n = 144) presenting to an outpatient gastroenterology clinic of a tertiary care hospital in Seoul, Republic of Korea, were scored on their knowledge of Crohn disease and colitis and their information needs were assessed in the questionnaire. Patients with Crohn disease obtained a higher mean knowledge score than patients with colitis. The patients with Crohn disease had significantly higher scores about complications than patients with colitis. The patients with Crohn disease showed significantly higher mean scores relating to the patients' information needs than patients with colitis. The favorite topics of information needed were disease, medication, and diagnosis/operations. The patients with Crohn disease wanted more information than patients with colitis about medications used for treatment, daily life, and pregnancy. The effectiveness of the training and education given to patients can be maximized in this education system when the information about disease and medications for Crohn disease patients or information about disease and diet for colitis patients is primarily provided according to the degree of the patients' need for information.

  11. Soluble CD40 ligand: a novel biomarker in the pathogenesis of periodontal disease.

    Science.gov (United States)

    Chaturvedi, Rashi; Gupta, Mili; Jain, Ashish; Das, Tarun; Prashar, Savita

    2015-01-01

    Periodontitis involves a complex interplay of micro-organisms and host immune response via numerous mediator molecules playing strategic roles in its pathogenesis. Soluble CD40L (sCD40L) is one such co-stimulatory molecule which is essential for T-helper cell activation and is a well-known risk indicator of cardiovascular diseases. The levels of this marker in crevicular fluid of patients of chronic periodontitis have been explored in the present study for the first time along with an analysis of its association with levels in serum in otherwise systemically healthy patients. Sixty patients 20 healthy and 40 of chronic periodontitis (18 moderate and 22 severe) participated in the study. Patients of the diseased group underwent non-surgical periodontal therapy. Clinical evaluation and collection of gingival crevicular fluid (GCF) and serum samples was done at baseline, and 6 weeks after phase I periodontal therapy. sCD40L levels were quantified in the fluids using ELISA. Levels of sCD40L in GCF were significantly higher in the diseased group (p ≤ 0.001) and strongly correlated not only with increasing severity of disease but also with levels in serum. In post-treatment, the levels decreased significantly in both the biological fluids (p ≤ 0.001). The present study brings to light the role of sCD40L as a novel marker in mediating periodontal destruction and disease progression. Evaluation of local treatment outcomes seems promising in minimizing these effects. Positive association of its local levels with those in serum further implicates the possibility of widespread systemic effects of this infection.

  12. Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice.

    Science.gov (United States)

    Baig, Shanat; Edward, Nicky C; Kotecha, Dipak; Liu, Boyang; Nordin, Sabrina; Kozor, Rebecca; Moon, James C; Geberhiwot, Tarekegn; Steeds, Richard P

    2017-10-17

    Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in FD, in particular as a result of heart failure and arrhythmia, with a significant proportion of events categorized as sudden. There are no clear models for risk prediction in FD. This systematic review aims to identify the risk factors for ventricular arrhythmia (VA) and sudden cardiac deaths (SCD) in FD. A systematic search was performed following PRISMA guidelines of EMBASE, Medline, PubMed, Web of Science, and Cochrane from inception to August 2016, focusing on identification of risk factors for the development of VA or SCD. Thirteen studies were included in the review (n = 4185 patients) from 1189 articles, with follow-up of 1.2-10 years. Weighted average age was 37.6 years, and 50% were male. Death from any cause was reported in 8.3%. Of these, 75% was due to CV problems, with the majority being SCD events (62% of reported deaths). Ventricular tachycardia was reported in 7 studies, with an average prevalence of 15.3%. Risk factors associated with SCD events were age, male gender, left ventricular hypertrophy, late gadolinium enhancement on CV magnetic resonance imaging, and non-sustained ventricular tachycardia. Although a multi-system disease, FD is a predominantly cardiac disease from a mortality perspective, with death mainly from SCD events. Limited evidence highlights the importance of clinical and imaging risk factors that could contribute to improved decision-making in the management of FD. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For Permissions, please email: journals.permissions@oup.com.

  13. Myocardial imaging in patients with Kawasaki disease

    International Nuclear Information System (INIS)

    Ono, Yasuo; Tanimoto, Takeshi; Kijima, Yoshitami; Kohata, Tohru; Suzuki, Atsuko

    1982-01-01

    Thallium-201 myocardial imaging was performed in 80 children with coronary arterial lesions due to Kawasaki disease in order to assess the value of serial and exercise myocardial imagings. In eight of these children, abnormalities of the image were noted. Twenty children had serial thallium studies with an interval of three to 18 months, and five of these showed changes in the image including appearance of a new perfusion defect in one patient and improvement of perfusion defects in four. These changes of the myocardial image were correlated well with coronary angiographic findings obtained within a few days of the isotope studies. It was noted that the changes of the myocardial image were more frequently observed at relatively recent period recovered from Kawasaki disease. Exercise myocardial imaging using a bicycle ergometer was performed in eight children with coronary arterial lesions. In three an evidence of improvement of the myocardial perfusion was noted immediately after exercise as well as on the delayed image. In one patient, a decrease of the perfusion in the apex and inferior wall was noted immediately after exercise. On the observed image, image of the apex improved but that of the inferior wall remained hypoperfused. Thus thallium-201 myocardial imaging was considered to permit the best noninvasive documentation imaging was found to be useful in differentiating the viable from nonviable myocardium. It was to be emphasized that quantitative evaluation by computer-assisted analysis was particularly valuable in detecting small areas and in a comparison of the myocardial images. (author)

  14. SCD1 Confers Temozolomide Resistance to Human Glioma Cells via the Akt/GSK3β/β-Catenin Signaling Axis

    Directory of Open Access Journals (Sweden)

    Shuang Dai

    2018-01-01

    Full Text Available Resistance to temozolomide (TMZ, the standard chemotherapy agent for glioblastoma (GBM, poses a major clinical challenge to GBM prognosis. Understanding the mechanisms of TMZ resistance can help to identify novel drug targets and more effective therapies. Recent studies suggest that bioenergetic alterations of cancer cells play important roles in drug resistance. In our study, the altered metabolism of cancer cells was observed using a metabolic PCR array. We found that stearoyl-coenzyme A desaturase 1 (SCD1, a key rate-limiting enzyme for synthesis of monounsaturated fatty acids, was significantly upregulated in TMZ-resistant GBM cells compared to their parental counterparts. Overexpression of SCD1 promoted resistance to TMZ in parental GBM cells, whereas SCD1 downregulation by siRNA could re-sensitize TMZ-resistant cells in vitro. Combinational treatment of TMZ and an SCD1-specific inhibitor showed a combined inhibitory effect on TMZ-resistant glioma cells. We also observed that overexpression of SCD1 promoted Akt/GSK3β/β-catenin signaling, while silencing of SCD1 inhibited the signaling. The combination of an Akt activator with exogenous SCD1 or the combined inhibition of Akt and enforced expression of SCD1 resulted in the most significant changes of Akt signaling. Functionally, significantly lower viability and mobility rates were observed in TMZ-resistant cells when treated with Akt inhibitors and an SCD1 inhibitor simultaneously compared to when treated individually. In conclusion, our study identified SCD1 along with its functional pathway as a novel target in the development of TMZ resistance. SCD1 inhibition used alone or in combination with Akt inhibition could effectively overcome TMZ resistance in gliomas.

  15. Phase 1 Study of a Sulforaphane-Containing Broccoli Sprout Homogenate for Sickle Cell Disease.

    Directory of Open Access Journals (Sweden)

    Jennifer F Doss

    Full Text Available Sickle cell disease (SCD is the most common inherited hemoglobinopathy worldwide. Our previous results indicate that the reduced oxidative stress capacity of sickle erythrocytes may be caused by decreased expression of NRF2 (Nuclear factor (erythroid-derived 2-like 2, an oxidative stress regulator. We found that activation of NRF2 with sulforaphane (SFN in erythroid progenitors significantly increased the expression of NRF2 targets HMOX1, NQO1, and HBG1 (subunit of fetal hemoglobin in a dose-dependent manner. Therefore, we hypothesized that NRF2 activation with SFN may offer therapeutic benefits for SCD patients by restoring oxidative capacity and increasing fetal hemoglobin concentration. To test this hypothesis, we performed a Phase 1, open-label, dose-escalation study of SFN, contained in a broccoli sprout homogenate (BSH that naturally contains SFN, in adults with SCD. The primary and secondary study endpoints were safety and physiological response to NRF2 activation, respectively. We found that BSH was well tolerated, and the few adverse events that occurred during the trial were not likely related to BSH consumption. We observed an increase in the mean relative whole blood mRNA levels for the NRF2 target HMOX1 (p = 0.02 on the last day of BSH treatment, compared to pre-treatment. We also observed a trend toward increased mean relative mRNA levels of the NRF2 target HBG1 (p = 0.10 from baseline to end of treatment, but without significant changes in HbF protein. We conclude that BSH, in the provided doses, is safe in stable SCD patients and may induce changes in gene expression levels. We therefore propose investigation of more potent NRF2 inducers, which may elicit more robust physiological changes and offer clinical benefits to SCD patients. Trial registration: ClinicalTrials.gov NCT01715480.

  16. Oxidative stress in sickle cell disease; pathophysiology and potential implications for disease management

    NARCIS (Netherlands)

    Nur, Erfan; Biemond, Bart J.; Otten, Hans-Martin; Brandjes, Dees P.; Schnog, John-John B.

    2011-01-01

    Sickle cell disease (SCD) is a hemoglobinopathy characterized by hemolytic anemia, increased susceptibility to infections and vaso-occlusion leading to a reduced quality of life and life expectancy. Oxidative stress is an important feature of SCD and plays a significant role in the pathophysiology

  17. INTESTINAL PERMEABILITY IN PATIENTS WITH CELIAC-DISEASE AND RELATIVES OF PATIENTS WITH CELIAC-DISEASE

    NARCIS (Netherlands)

    VANELBURG, RM; UIL, JJ; MULDER, CJJ; HEYMANS, HSA

    The functional integrity of the small bowel is impaired in coeliac disease. Intestinal permeability, as measured by the sugar absorption test probably reflects this phenomenon. In the sugar absorption test a solution of lactulose and mannitol was given to the fasting patient and the

  18. Exploring employment in consultation reports of patients with neuromuscular diseases

    NARCIS (Netherlands)

    Minis, M.A.H; Cup, E.H.C.; Heerkens, Y.H.; Engels, J.A.; Engelen, B.G.M. van; Oostendorp, R.A.B.

    2012-01-01

    Minis MA, Cup EH, Heerkens YF, Engels JA, van Engelen BG, Oostendorp RA. Exploring employment in consultation reports of patients with neuromuscular diseases. OBJECTIVES: To explore consultation reports for patient and employment characteristics and recommendations on employment regarding patients

  19. Cerebro vascular accident in sickle cell disease

    International Nuclear Information System (INIS)

    Alam, M.; Lodhi, M.A.; Khan, D.

    2003-01-01

    Sickle cell disease (SCD) is a common inherited hemoglobin disorder characterized by the presence of sickle shaped erythrocytes in the blood. It can cause stroke in around 10% of children. Repeated blood transfusions are often used in an attempt to dilute blood thus reducing the risk of vaso-occlusion and stroke. We report a case of an 11 years old girl, known patient of sickle cell disease, who did not follow regular blood transfusion protocol and as a result presented with recurrent stroke. (author)

  20. Evaluation of high performance liquid chromatography (HPLC) pattern and prevalence of beta-thalassaemia trait among sickle cell disease patients in Lagos, Nigeria.

    Science.gov (United States)

    Adeyemo, Titilope; Ojewunmi, Oyesola; Oyetunji, Ajoke

    2014-01-01

    Sickle cell disease (SCD) is the most common inherited disorder of haemoglobin worldwide. This study evaluated the chromatographic patterns and red blood cell indices of sickle cell patients to determine the co-inheritance of other haemoglobin(Hb) variants and β-thalassaemia trait. Red cell indices, blood film, sickle solubility test, Hb electrophoresis using alkaline cellulose acetate membrane, and chromatographic patterns using Bio Rad HPLC Variant II were evaluated for 180 subjects. Based on low MCV 4.0% on HPLC and Hb variants eluting outside the S and C windows, at least four haemoglobin phenotypes (SS: 87.7%; SC: 1.1%; SD Punjab: 0.6%; Sβ-thalassemia: 10.6%) were identified. Mean Hb F% was 8.1±5.1 (median 7.65) for Hb SS and 6.03±5.2 (median 3.9) for Hb Sβ-thalassemia trait. Majority of Hb SS (69.1%) had Hb F% less than 10 while 27.6% had 10-19.9 and 3.2% had ≥ 20. Mean Hb F% was higher in female Hb SS (9.55±5.09; mean age 7.4±3.8 years) than the males (7.63±4.80; mean age 6.9±3.8 years) (P=0.02). A borderline significant negative correlation between age and Hb F levels among Hb SS subjects (r= -0.169 P=0.038) was also observed. Our data suggests that α and β- thalassaemia traits, and other haemoglobin variants co-exist frequently with SCD in our population.

  1. Gender disparities in disease-specific health status in postoperative patients with peripheral arterial disease

    DEFF Research Database (Denmark)

    Mastenbroek, M H; Hoeks, S E; Pedersen, Susanne S.

    2012-01-01

    To investigate gender disparities in disease-specific health status (HS), 3- and 5-year post-intervention in peripheral arterial disease (PAD) patients.......To investigate gender disparities in disease-specific health status (HS), 3- and 5-year post-intervention in peripheral arterial disease (PAD) patients....

  2. Detection of contactin-2 in cerebrospinal fluid (CSF) of patients with Alzheimer's disease using Fluorescence Correlation Spectroscopy (FCS).

    Science.gov (United States)

    Chatterjee, Madhurima; Nöding, Bernd; Willemse, Eline A J; Koel-Simmelink, Marleen J A; van der Flier, Wiesje M; Schild, Detlev; Teunissen, Charlotte E

    2017-12-01

    Alzheimer's disease (AD) is the most common cause of dementia in the world. As many AD biomarkers occur at rather low abundances in CSF or blood, techniques of very high sensitivity and accuracy are important as diagnostic tools in the clinic. Here, we aimed to provide proof of concept of the use of a single molecule detection technique, Fluorescence Correlation Spectroscopy (FCS) for detection of novel candidate biomarkers for AD. FCS detects the diffusion times of the antigen-antibody complexes in highly diluted sample solutions, thus eliminating the need of large sample volumes and allows estimating the concentration of the target antigen. We developed a FCS set-up for contactin-2, a neuronal cell adhesion molecule and a ligand of beta-secretase 1 (BACE1) and amyloid precursor protein (APP), the latter proteins being important players in AD. With this method, we investigated whether contactin-2 concentrations are changed after delayed storage and in patients with Alzheimer's disease. The FCS set-up for measuring contactin-2 in CSF had a lower limit of quantification (LLOQ) of 0.2ng/ml and intra- and inter-assay coefficients of variation (CVs) of 12.2% and 14.6% respectively. Contactin-2 levels were stable up to one week storage of CSF (n=3) at RT and 4°C. Further, contactin-2 levels were similar in probable AD patients (n=34, p=0.27) compared to patients with subjective cognitive decline (SCD) (n=11). FCS is a sensitive tool, which can be used for detecting biomarkers in the clinical setting using very low sample volumes (10μl) and can measure proteins in their native conformations in the body fluid. Copyright © 2017. Published by Elsevier Inc.

  3. Technology innovation for patients with kidney disease.

    Science.gov (United States)

    Mitsides, Nicos; Keane, David F; Lindley, Elizabeth; Mitra, Sandip

    2014-01-01

    The loss of kidney function is a life-changing event leading to life-long dependence on healthcare. Around 5000 people are diagnosed with kidney failure every year. Historically, technology in renal medicine has been employed for replacement therapies. Recently, a lot of emphasis has been placed on technologies that aid early identification and prevent progression of kidney disease, while at the same time empowering affected individuals to gain control over their chronic illness. There is a shift in diversity of technology development, driven by collaborative innovation initiatives such the National Institute's for Health Research Healthcare Technology Co-operative for Devices for Dignity. This has seen the emergence of the patient as a key figure in designing technologies that are fit for purpose, while business involvement has ensured uptake and sustainability of these developments. An embodiment of this approach is the first successful Small Business Research Initiative in the field of renal medicine in the UK.

  4. Preoperative management in patients with Graves' disease.

    Science.gov (United States)

    Piantanida, Eliana

    2017-10-01

    Graves' disease is the most frequent cause of hyperthyroidism in iodine-sufficient geographical areas and is characterized by the presence in patients' serum of autoantibodies directed against the thyrotropin receptor (TRAb) that cause overproduction and release of thyroid hormones. Clinical presentation results from both hyperthyroidism and underlying autoimmunity. The diagnosis is based on characteristic clinical features and biochemical abnormalities. If serum thyrotropin (TSH) is low, serum free thyroxine (FT4) and free triiodothyronine (FT3) concentrations should be measured to distinguish between subclinical (with normal circulating thyroid hormones) and overt hyperthyroidism (with increased circulating thyroid hormones). Graves' disease is treated with any of three effective and relatively safe initial treatment options: antithyroid drugs (ATDs), radioactive iodine ablation (RAIU), and surgery. Total thyroidectomy is favored in several clinical situations, such as intolerance, ineffectiveness or recurrence after ATD treatment, radioiodine therapy contraindicated, documented or suspected thyroid malignancy, one or more large thyroid nodules, coexisting moderate-to-severe active Graves' orbitopathy, women planning a pregnancy within 6 months. Whenever surgery is selected as treatment, selection of an expert high-volume thyroid surgeons is fundamental and careful preoperative management is essential to optimize surgical outcomes. Pretreatment with ATDs in order to promptly achieve the euthyroid state is recommended to avoid the risk of precipitating thyroid storm during surgery. For the majority of patients, euthyroidism is achieved after few weeks of ATD treatment. Beta-blockers, such as propranolol, are often added effectively to control hyperthyroid symptoms. Saturated solution of potassium iodide (SSKI) or potassium iodine (Lugol's solution), given for a short period prior to surgery, in order to reduce both thyroid hormone release and thyroid gland

  5. Health-related quality of life and adherence to hydroxyurea in adolescents and young adults with sickle cell disease.

    Science.gov (United States)

    Badawy, Sherif M; Thompson, Alexis A; Lai, Jin-Shei; Penedo, Frank J; Rychlik, Karen; Liem, Robert I

    2017-06-01

    Complications related to sickle cell disease (SCD) result in significant declines in health-related quality of life (HRQOL). While hydroxyurea reduces SCD complications, adherence remains suboptimal. The study's objectives were to assess the feasibility of Internet-based electronic assessment of HRQOL in SCD clinic and to examine the relationship between HRQOL and hydroxyurea adherence in adolescents and young adults (AYAs) with SCD. A cross-sectional survey was administered on tablets to 34 AYAs (12-22 years old) in a SCD clinic from January through December 2015. Study measures included Patient Reported Outcomes Measurement Information System (PROMIS ® ) computerized adaptive testing and ©Modified Morisky Adherence Scale 8-items (©MMAS-8). Participants (59% male, 91% Black) had median age of 13.5 (range 12-18) years. Ninety-one percent completed PROMIS® measures electronically in the clinic, meeting our feasibility criterion of ≥85% completion rate. ©MMAS-8 scores positively correlated with fetal hemoglobin (HbF) (r s = 0.34, P = 0.04) and mean corpuscular volume (MCV) (r s = 0.42, P = 0.01) and inversely correlated with fatigue (r s = -0.45, P = 0.01), depression (r s = -0.3, P = 0.08), and social isolation (r s = -0.78, P = 0.02). Low ©MMAS-8 scores, indicating poor adherence, were associated with worse fatigue (P = 0.001) and trended toward significance for pain (P = 0.07) and depression (P = 0.06). Homozygous hemoglobin S disease patients with low HbF (hydroxyurea adherence and/or low HbF or MCV levels had worse HRQOL scores, particularly fatigue. Future prospective studies examining the relationship between HRQOL and hydroxyurea adherence are warranted. © 2016 Wiley Periodicals, Inc.

  6. Kleptomania in Patients with Neuro-Behçet's Disease

    OpenAIRE

    Shugaiv, Erkingül; Kıyat-Atamer, Aslı; Tüzün, Erdem; Kürtüncü, Murat; Baral-Kulaksızoğlu, Işın; Akman Demir, Gülşen

    2013-01-01

    Objective This study was conducted to characterize the prevalence and clinical features of kleptomania, an impulse control disorder, in patients with Behçet's disease involving the central nervous system. Subjects and Methods Medical records of 350 patients with neuro-Behçet's disease were evaluated, and clinical and neuropsychological features of patients with kleptomania were noted. Results Of the 350 neuro-Behçet's disease patients 6 (1.7%) had presented with symptoms that fulfilled the cr...

  7. Cellular normoxic biophysical markers of hydroxyurea treatment in sickle cell disease.

    Science.gov (United States)

    Hosseini, Poorya; Abidi, Sabia Z; Du, E; Papageorgiou, Dimitrios P; Choi, Youngwoon; Park, YongKeun; Higgins, John M; Kato, Gregory J; Suresh, Subra; Dao, Ming; Yaqoob, Zahid; So, Peter T C

    2016-08-23

    Hydroxyurea (HU) has been used clinically to reduce the frequency of painful crisis and the need for blood transfusion in sickle cell disease (SCD) patients. However, the mechanisms underlying such beneficial effects of HU treatment are still not fully understood. Studies have indicated a weak correlation between clinical outcome and molecular markers, and the scientific quest to develop companion biophysical markers have mostly targeted studies of blood properties under hypoxia. Using a common-path interferometric technique, we measure biomechanical and morphological properties of individual red blood cells in SCD patients as a function of cell density, and investigate the correlation of these biophysical properties with drug intake as well as other clinically measured parameters. Our results show that patient-specific HU effects on the cellular biophysical properties are detectable at normoxia, and that these properties are strongly correlated with the clinically measured mean cellular volume rather than fetal hemoglobin level.

  8. Relationship between Mixed Donor-Recipient Chimerism and Disease Recurrence after Hematopoietic Cell Transplantation for Sickle Cell Disease.

    Science.gov (United States)

    Abraham, Allistair; Hsieh, Matthew; Eapen, Mary; Fitzhugh, Courtney; Carreras, Jeanette; Keesler, Daniel; Guilcher, Gregory; Kamani, Naynesh; Walters, Mark C; Boelens, Jaap J; Tisdale, John; Shenoy, Shalini

    2017-12-01

    Mixed donor chimerism after hematopoietic cell transplantation for sickle cell disease (SCD) can result in resolution of disease symptoms, but symptoms recur when donor chimerism is critically low. The relationship between chimerism, hemoglobin S (HbS) level, and symptomatic disease was correlated retrospectively in 95 patients who had chimerism reports available at day 100 and at 1 and 2 years after transplantation. Recurrent disease was defined as recurrence of vaso-occlusive crises, acute chest syndrome, stroke, and/or HbS levels > 50%. Thirty-five patients maintained full donor chimerism (myeloid or whole blood) through 2 years. Donor chimerism was less than 10% (defined as graft failure) in 13 patients during this period. Mixed chimerism was reported in the remaining 47 patients (range, 10% to 94%). The lowest documented donor chimerism without symptomatic disease was 26%. Of 12 surviving patients with recurrent disease, 2 had recurrence of symptoms before documented graft failure (donor chimerism of 11% and 17%, respectively). Three patients underwent second transplantation for graft failure. None received donor leukocyte infusion to maintain mixed chimerism or prevent graft failure. We conclude stable donor chimerism greater than 25% is associated with resolution of SCD-related symptoms, and HbS levels in transplant recipients should be interpreted in context of the sickle trait status of the donors. Copyright © 2017 The American Society for Blood and Marrow Transplantation. All rights reserved.

  9. Nutrition management in the adult patient with Crohn's disease ...

    African Journals Online (AJOL)

    Malnutrition, nutrient deficiencies and osteoporosis are common in patients with Crohn's disease, regardless of disease activity. While the role of diet in the pathogenesis of the disease remains inconclusive, upon diagnosis, nutrition therapy plays an integral role in patient care. Successful nutrition intervention involves ...

  10. Huntington\\'s disease: Genetic heterogeneity in black African patients

    African Journals Online (AJOL)

    Huntington\\'s disease: Genetic heterogeneity in black African patients. D S Magazi, A Krause, V Bonev, M Moagi, Z Iqbal, M Dludla, C H van der Meyden. Abstract. Objective. Huntington's disease (HD) has been reported to occur rarely in black patients. A new genetic variant– Huntington's disease-like 2 (HDL2) – occurring ...

  11. Patients of Skin Diseases Hospital, Maiduguri, Borno State

    African Journals Online (AJOL)

    ADOWIE PERE

    Retrospective Study of Epidermal Parasitic Skin Diseases amongst Out- Patients of ... Epidermal Parasitic Skin Diseases (EPSD) among out-patients from the skin diseases hospital in Maiduguri, Borno state. ... accorded to the risk factors such as lack of adequate sanitation, poor hygiene and overcrowding which when.

  12. Modeling neurodegenerative diseases with patient-derived induced pluripotent cells

    DEFF Research Database (Denmark)

    Poon, Anna; Zhang, Yu; Chandrasekaran, Abinaya

    2017-01-01

    The rising prevalence of progressive neurodegenerative diseases coupled with increasing longevity poses an economic burden at individual and societal levels. There is currently no effective cure for the majority of neurodegenerative diseases and disease-affected tissues from patients have been...... the opportunity to model disease development, uncover novel mechanisms and test potential therapeutics. Here we review findings from iPSC-based modeling of selected neurodegenerative diseases, including Alzheimer's disease, frontotemporal dementia and spinocerebellar ataxia. Furthermore, we discuss...

  13. Cobalamin Related Parameters and Disease Patterns in Patients with Increased Serum Cobalamin Levels

    DEFF Research Database (Denmark)

    Arendt, Johan Frederik Berg; Nexø, Ebba

    2012-01-01

    Background: Measurement of serum cobalamin levels is routinely used to diagnose cobalamin deficiency. Surprisingly, approximately 15% of patients have high cobalamin levels and no consensus exists regarding the clinical implications. Methods: Hospital-treated patients above 18 years of age referred...... for serum cobalamin measurement were included in groups of patients [percentage cobalamin supplemented] with low (,200 pmol/L, n = 200 [6%]), normal (200–600, n = 202 [6%]) high (601–1000, n = 217 [27%]) and very high (.1000, n = 199 [53%]) cobalamin levels. Total and cobalamin-saturated (holo......) transcobalamin, total haptocorrin, soluble TC receptor, sCD320, and methylmalonic acid were analyzed. Data on diagnoses and medical prescriptions was obtained through medical files and the Aarhus University Prescription Database. Results: Among patients not cobalamin supplemented median total haptocorrin...

  14. Elective cholecystectomy reduces morbidity of cholelithiasis in pediatric sickle cell disease.

    Science.gov (United States)

    Goodwin, Emily F; Partain, Paige I; Lebensburger, Jeffrey D; Fineberg, Naomi S; Howard, Thomas H

    2017-01-01

    Cholelithiasis is a frequent complication in pediatric sickle cell disease (SCD). Though it is standard practice to perform a cholecystectomy in pediatric SCD patients with symptoms of cholelithiasis, the use of elective cholecystectomy for asymptomatic patients remains controversial. Records of 191 pediatric sickle cell patients with cholelithiasis who underwent cholecystectomy were retrospectively reviewed. Patients classified as follows: (i) elective-no preoperative symptoms, cholelithiasis on screening ultrasound, comprehensive preoperative plan; (ii) symptomatic-preoperative symptoms of cholelithiasis on diagnostic ultrasound, comprehensive preoperative plan; or (iii) emergent-hospitalization for acute cholecystitis symptoms, cholelithiasis on diagnostic ultrasound, limited preoperative preparation. We compared the morbidity of cholecystectomy by examining pre- and post-cholecystectomy hospital admission days, length of stay for cholecystectomy, and surgical complications. Patients with SCD underwent a total of 191 cholecystectomies over a 10-year period: 51 elective, 110 symptomatic, and 30 emergent. Patients who required emergent cholecystectomy had a longer postoperative hospitalization time than elective or symptomatic cholecystectomy (7.3 vs 4.3, P < 0.001). Baseline values for total bilirubin and aspartate aminotransferase (AST) were significantly elevated (P < 0.02 and P < 0.07, respectively) in patients requiring emergent cholecystectomy. This represents the largest reported retrospective review of pediatric cholelithiasis and cholecystectomy in SCD to date. These data strongly suggest that elective cholecystectomy decreases morbidity associated with emergent cholecystectomy. The overall outcomes for symptomatic and elective patients are favorable. However, our study indicates the need for prospective studies to identify clinical indicators for those emergent patients. © 2016 Wiley Periodicals, Inc.

  15. Disease profile, complications and outcome in patients on ...

    African Journals Online (AJOL)

    Objective: To determine the primary renal disease, acute complications and long term outcome of patients with end stage renal disease (ESRD) undergoing maintenance haemodialysis (MHD). Design: A prospective descriptive study. Setting: King Faisal Hospital of the University, Al-Khobar, Saudi Arabia. Patients: Patients ...

  16. Prevalence of mucocutaneous findings in Celiac disease patients

    Directory of Open Access Journals (Sweden)

    Derya Yayla

    2015-12-01

    Full Text Available Background and Design: Celiac disease is an immune-mediated enteropathy which develops as a result of exposure to gluten in food products in individuals with a genetic predisposition. Gastrointestinal and extra-gastrointestinal clinical findings can be seen in these patients. An increased frequence of autoimmune diseases has been reported in patients with celiac disease. Some dermatological diseases, such as dermatitis herpetiformis, vitiligo, psoriasis, alopecia areata and recurrent aphthous stomatitis have been reported to be more common among patients with celiac disease. However, there are no controlled studies on this subject. The aim of this study was to identify the mucocutaneous symptoms seen in celiac patients and to compare these findings with a control group. Materials and Methods: Forty-nine celiac patients and 54 age-and sex-matched healthy volunteers were included in the study. In the patient group, celiac disease history, height and weight parameters, the medications of the patients, compliance to a gluten-free diet, concomitant skin disorders and additional illnesses were questioned; height and weight parameters, diagnosed illnesses, and medications were questioned in the control group. Dermatological analyses were performed in all participants. Results: Mucocutaneous findings were found to be present in 38 patients (77.6% in the celiac patient group and in 31 (57.4% individuals in the control group. The presence of mucocutaneous findings in celiac patients was significantly more common than in the control group. While immune-mediated mucocutaneous diseases were detected in 8 celiac patients (16.3%, none of the individuals in the control group had immune-mediated mucocutaneous diseases and a statistically significant difference was found between the two groups. Conclusion: In celiac patients, the frequency of immune-mediated mucocutaneous diseases and all mucocutaneous diseases were found to be increased. Therefore, we suggest

  17. Lumbar Spine Surgery in Patients with Parkinson Disease.

    Science.gov (United States)

    Schroeder, Joshua E; Hughes, Alexander; Sama, Andrew; Weinstein, Joseph; Kaplan, Leon; Cammisa, Frank P; Girardi, Federico P

    2015-10-21

    Parkinson disease is the second most common neurodegenerative condition. The literature on patients with Parkinson disease and spine surgery is limited, but increased complications have been reported. All patients with Parkinson disease undergoing lumbar spine surgery between 2002 and 2012 were identified. Patients' charts, radiographs, and outcome questionnaires were reviewed. Parkinson disease severity was assessed with use of the modified Hoehn and Yahr staging scale. Complications and subsequent surgeries were analyzed. Risk for reoperation was assessed. Ninety-six patients underwent lumbar spine surgery. The mean patient age was 63.0 years. The mean follow-up duration was 30.1 months. The Parkinson disease severity stage was Parkinson disease severity stage of ≥3 (p Parkinson disease is good, with improvement of spine-related pain. A larger prospective study is warranted. Copyright © 2015 by The Journal of Bone and Joint Surgery, Incorporated.

  18. The effect of light deprivation in patients with Stargardt disease

    NARCIS (Netherlands)

    Teussink, M.M.; Lee, M.D.; Smith, R.T.; Huet, R.A.C. van; Klaver, C.C.; Klevering, B.J.; Theelen, T.; Hoyng, C.B.

    2015-01-01

    PURPOSE: To investigate whether long-term protection from light exposure affects the rate of disease progression in patients with autosomal recessive Stargardt disease (STGD1), measured using fundus autofluorescence imaging. DESIGN: Longitudinal, retrospective, interventional case series. METHODS:

  19. Dobutamine Stress Echocardiography Safety in Chagas Disease Patients

    Directory of Open Access Journals (Sweden)

    Daniela do Carmo Rassi

    Full Text Available Abstract Background: A few decades ago, patients with Chagas disease were predominantly rural workers, with a low risk profile for obstructive coronary artery disease (CAD. As urbanization has increased, they became exposed to the same risk factors for CAD of uninfected individuals. Dobutamine stress echocardiography (DSE has proven to be an important tool in CAD diagnosis. Despite being a potentially arrhythmogenic method, it is safe for coronary patients without Chagas disease. For Chagas disease patients, however, the indication of DSE in clinical practice is uncertain, because of the arrhythmogenic potential of that heart disease. Objectives: To assess DSE safety in Chagas disease patients with clinical suspicion of CAD, as well as the incidence of arrhythmias and adverse events during the exam. Methods: Retrospective analysis of a database of patients referred for DSE from May/2012 to February/2015. This study assessed 205 consecutive patients with Chagas disease suspected of having CAD. All of them had their serology for Chagas disease confirmed. Results: Their mean age was 64±10 years and most patients were females (65.4%. No patient had significant adverse events, such as acute myocardial infarction, ventricular fibrillation, asystole, stroke, cardiac rupture and death. Regarding arrhythmias, ventricular extrasystoles occurred in 48% of patients, and non-sustained ventricular tachycardia in 7.3%. Conclusion: DSE proved to be safe in this population of Chagas disease patients, in which no potentially life-threatening outcome was found.

  20. Stroke and cerebrovascular diseases in patients with chronic kidney disease.

    Science.gov (United States)

    Toyoda, Kazunori; Ninomiya, Toshiharu

    2014-08-01

    Chronic kidney disease, defined as a reduced glomerular filtration rate or increased urinary albumin excretion, is recognised as a rapidly growing global health burden, and increasing evidence suggests that it contributes to the risk and severity of cerebrovascular diseases. In particular, chronic kidney disease is an established risk factor for stroke and is also strongly associated with subclinical cerebrovascular abnormalities and cognitive impairment, partly because it shares several traditional and non-traditional risk factors, and sometimes uraemia-related and dialysis-related factors, with cerebrovascular diseases. The effect of chronic kidney disease on incident stroke differs among regions and races and is greater in Asian than in non-Asian people. Chronic kidney disease seems to be predictive of severe neurological deficits and poor vital and functional outcomes after both ischaemic and haemorrhagic strokes, which is partly due to the limitations of pharmacotherapies, including limited use and effects of novel oral anticoagulants, other antithrombotic treatments, and reperfusion treatment for hyperacute ischaemic stroke. In view of the strong two-way association between stroke and kidney disease, the pathophysiological interactions between the brain and kidney should be the subject of intensive study. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. Risk of premature cerebrovascular disease in patients with ankylosing spondylitis.

    Science.gov (United States)

    Zhang, Xingwen; Liu, Ruozhuo; Wang, Jing; Zhang, Yuqi; Liu, Yufei; Yu, Zhe; Yu, Shengyuan

    2016-01-01

    Patients with ankylosing spondylitis (AS) are at an elevated risk for the development of coronary artery disease, but the risk cerebrovascular disease among these patients remains incompletely understood. We investigated the cerebrovascular risk profiles of patients with a cerebrovascular disease and AS and compared these profiles to those of cerebrovascular disease patients without AS. We retrospectively analyzed 34 patients with ischemic cerebrovascular disease also diagnosed with AS and 597 controls without AS with respect to patient age, gender, cerebrovascular risk factors, and laboratory test results. AS patients were significantly younger than control patients in this study (56.2±13.5 years vs. 63.0±13.4 years, respectively; p=0.004). Logistic regression analysis did not indicate significant relationships between gender, cerebrovascular risk factors, and biochemical risk factors in AS patients, nor were any significant relationships found between erythrocyte sedimentation rate or C-reactive protein and biochemical risk factors. A low frequency of large-artery atherosclerosis and high frequency of small-vessel occlusion according to TOAST classification were found in AS patients with stroke. Among the patients included in this study, patients with AS sought treatment for cerebrovascular disease were at a younger age compared to control patients without AS. Thus, our results indicate that AS patients have an increased risk for the premature onset of cerebrovascular disease. And the premature atherosclerosis may associate with the patients with AS. Furthermore, the high frequency of the small-vessel stroke subtype in AS patients indicates that small-vessel inflammation may be involved in the pathogenesis of vascular diseases in AS patients. Further prospective study with more samples will be needed to confirm this point of view.

  2. The Cognitive and Academic Impact of Sickle Cell Disease

    Science.gov (United States)

    Day, Sara; Chismark, Elisabeth

    2006-01-01

    Sickle cell disease (SCD) affects over 30,000 students in the United States. Central nervous system complications are widespread among students with SCD and include stroke, silent cerebral infarction, and cognitive impairment. The effects of these complications may lead to academic failure, limited career options, and for some, total disability.…

  3. Psychopathology in Sickle Cell Disease | Alao | West African Journal ...

    African Journals Online (AJOL)

    Despite the well-known association between chronic medical conditions and psychiatric diagnoses, psychopathology among individuals with Sickle cell disease (SCD) is not well recognised. The purpose of this article is to examine the relationship between psychiatric symptoms and SCD. We reviewed the existing literature ...

  4. The orthodontic management of an adult with sickle cell disease ...

    African Journals Online (AJOL)

    Sickle cell disease (SCD) is a hereditary blood disorder characterized by abnormally shaped red cells. SCD frequently exhibits multisystemic manifestations including oral and craniofacial disorders. Craniofacial features such as maxillary protrusion and more forward growth of the mandible with significantly retruded ...

  5. Psychosocial impact of sickle cell disease in children seen at ...

    African Journals Online (AJOL)

    Background: The increased risk of psychological disorders constitutes one of the complications of sickle cell disease (SCD) in Nigeria. This subject has received insufficient attention. Objectives: To assess the psychosocial impact of SCD on affected children and two control samples. Design: A cross-sectional controlled ...

  6. Sickle cell disease, part 1: understanding the condition.

    OpenAIRE

    Addis, Gulen

    2012-01-01

    Sickle cell disease (SCD) is one of the most common genetic blood disorders in the world and affects 12, 500 individuals in the UK. This article looks at the definition of SCD, symptoms and treatments and practical tips to prevent sickle cell crises.

  7. Psychosocial impact of sickle cell disease in children seen at ...

    African Journals Online (AJOL)

    Psychosocial impact of sickle cell disease in children seen at University of Ilorin Teaching Hospital, Ilorin, Nigeria. ... On the Rutter Scale A2, the SCD children were more likely than the controls to report neurotic symptoms but less likely than controls to bully other children. SCD children (30%) were more likely to be identified ...

  8. Hydroxyurea therapy in adult Nigerian sickle cell disease: a ...

    African Journals Online (AJOL)

    Background: The clinical prospects of hydroxyurea therapy in the management of sickle cell disease (SCD) require evaluation in the Nigerian setting to develop indigenous guidelines. This survey examines the pattern of hydroxyurea therapy, its clinico-haematologic benefits and safety profile in Nigerian SCD subjects.

  9. Association between endothelial dysfunction and otoneurological symptoms in children with sickle cell disease.

    Science.gov (United States)

    Rissatto-Lago, Mara Renata; Salles, Cristina; Campos de Pinho, Fernando Gesteira; Menezes Lyra, Isa; Terse-Ramos, Regina; Teixeira, Rozana; Ladeia, Ana Marice

    2017-06-01

    To evaluate the association between endothelial dysfunction and otoneurological symptoms and vaso-occlusive phenomena in children with sickle cell disease (SCD). Cross-sectional study with 54 children, aged between 6 and19 years of age, of whom 28 had genotype SS and 26 apparently healthy (AA genotype) whose parents or guardians, or the children themselves, filled out a questionnaire designed to assess their otoneurological symptoms. All the individuals were submitted assessment of endothelial function by flow-mediated dilation (FMD) percentage with reactive hyperemia of brachial artery Doppler. Otoneurological symptoms (tinnitus and/or vertigo) predominated in the SCD group (46.4 vs. 15.4%; p = 0.006). A negative correlation was observed between FMD percentage and time of evolution of vertigo SCD (r = -0.432; p = 0.022) and the linear regression analysis demonstrated that for every reduction in FMD percentage there was an increase in time of evolution of vertigo of 1.79 months (β = -1.79; p = 0.022). The positive correlation between episodes of painful crisis and time of evolution of vertigo (r = 0.3; p = 0.04). The presence of vascular endothelial damage in the labyrinthine artery in patients with SCD is capable of compromising the semicircular canals, shown by clinical expression of otoneurological symptoms, such as vertigo. In the present study, an association was observed between endothelial dysfunction with otoneurological symptoms and otoneurological symptoms and vaso-occlusive phenomena in SCD.

  10. Antibody development in pediatric sickle cell patients undergoing erythrocytapheresis.

    Science.gov (United States)

    Godfrey, Gwendolyn J; Lockwood, William; Kong, Maiying; Bertolone, Salvatore; Raj, Ashok

    2010-12-01

    Erythrocytapheresis, or red blood cell exchange transfusion (RBCX), with donor red blood cell (RBC) units is now increasingly used in the treatment of acute and chronic complications of sickle cell disease (SCD). As in all transfusions, RCBX carries a risk of immunization against foreign antigen on transfused cells. However, by selecting donor units with RBC phenotypes similar to the patient, the risk of allo- and autoimmunization can be reduced. The formation of RBC alloantibodies and/or autoantibodies in 32 multitransfused pediatric SCD patients undergoing monthly RBCX over a 11-year period (12/1998 to 12/2009) was evaluated utilizing a retrospective patient chart review at Kosair Children's Hospital, Louisville, Kentucky. After starting C, E, K antigen-matched RBCX, the rate of clinically significant allo-immunization decreased from 0.189/100 to 0.053/100 U, with a relative risk of 27.9%. Likewise, the rate of autoimmunization decreased from 0.063/100 to 0.035/100 U, with a relative risk of 55.9%. After controlling for clinically insignificant antibodies, our auto- and alloimmunization rate was much less than previously reported values. In addition, the incidence of clinically significant allo- and autoimmunization decreased in our patient population after starting minor antigen-matched RBCX. These results suggest that by matching selected RBC phenotypes, there may be an association in the risk of allo- and autoimmunization of multi-transfused SCD patients.

  11. Malevolent ogbanje: recurrent reincarnation or sickle cell disease?

    Science.gov (United States)

    Nzewi, E

    2001-05-01

    The Igbo of Nigeria believe that everyone is ogbanje (reincarnates) but malevolent ogbanje differ from others in being revenge-driven, chronically ill and engaging in repeated cycles of birth, death and reincarnation. This study examined culturally defined symptoms of 100 children classified as malevolent ogbanje; and investigated their family history and child mortality experience. There was concordance between cultural descriptions of malevolent ogbanje and symptoms as manifested in sickle cell patients. Hemoglobin analysis showed that 70 of the 100 children had sickle cell disease (SCD); while 68 families had death-related names. The symptoms associated with Igbo cases of reincarnation, high child mortality rates, and the high prevalence of sickle cell disease among children classified as malevolent ogbanje all support the conclusion that the symptomatology and early mortality experience are related to sickle cell. Names with themes of death were prevalent in families of children described as malevolent ogbanje. The findings are discussed with reference to cultural resistance to SCD as an explanation for malevolent ogbanje and the implications for the health care of children with SCD in Nigeria.

  12. Factors associated with gastro-duodenal disease in patients ...

    African Journals Online (AJOL)

    use two weeks preceding endoscopic analysis and patients with oesophageal disease were excluded from further study. Korle-Bu receives out-patient referrals from sever- al primary and specialist centres across Southern Ghana. One hundred ...

  13. Soluble Co-Signaling Molecules Predict Long-Term Graft Outcome in Kidney-Transplanted Patients

    Science.gov (United States)

    Melendreras, Susana G.; Martínez-Camblor, Pablo; Menéndez, Aurora; Bravo-Mendoza, Cristina; González-Vidal, Ana; Coto, Eliecer; Díaz-Corte, Carmen; Ruiz-Ortega, Marta; López-Larrea, Carlos; Suárez-Álvarez, Beatriz

    2014-01-01

    Co-signaling molecules are responsible for full T-cell activation after solid organ transplantation. Their increased expression can lead to the release of a soluble form that can modulate the immune response post-transplantation. We analyzed the presence of co-signaling molecules (sCD30, sCD40, sCD137, sCTLA-4, sCD80, sCD28, sCD40L, sPD-1, and sPD-L1) in serum from kidney-transplanted patients (n = 59) obtained at different times (before transplantation, and 15 days, 3 months and 1 year post-transplantation) and their contribution to graft outcome was evaluated using principal component analysis. Before transplantation, high levels of soluble co-signaling molecules (mainly sCD30, sCD137 and sCD40) were detected in all patients. These molecules were modulated soon after receiving an allograft but never attained similar levels to those of healthy controls. A signature based on the determination of six soluble co-stimulatory (sCD30, sCD40, sCD137 and sCD40L) and co-inhibitory (sPD-1 and sPD-L1) molecules at 3 months post-transplantation allowed a group of patients to be identified (27.12%) with a worse long-term graft outcome. Patients with high levels of soluble molecules showed a progressive and gradual deterioration of kidney function (increased creatinine and proteinuria levels and decreased estimated glomerular filtration rate) over time and a higher risk of graft loss at 6 years post-transplantation than patients with low levels of these molecules (62.55% versus 5.14%, pmolecules in kidney-transplanted patients whose quantification at 3 months post-transplantation might be a useful biomarker of immune status and help to predict long-term graft evolution. PMID:25478957

  14. Ultrasonographic imaging of inflammatory bowel disease in pediatric patients

    Science.gov (United States)

    Chiorean, Liliana; Schreiber-Dietrich, Dagmar; Braden, Barbara; Cui, Xin-Wu; Buchhorn, Reiner; Chang, Jian-Min; Dietrich, Christoph F

    2015-01-01

    Inflammatory bowel disease (IBD) is one of the most common chronic gastrointestinal diseases in pediatric patients. Choosing the optimal imaging modality for the assessment of gastrointestinal disease in pediatric patients can be challenging. The invasiveness and patient acceptance, the radiation exposure and the quality performance of the diagnostic test need to be considered. By reviewing the literature regarding imaging in inflammatory bowel disease the value of ultrasound in the clinical management of pediatric patients is highlighted. Transabdominal ultrasound is a useful, noninvasive method for the initial diagnosis of IBD in children; it also provides guidance for therapeutic decisions and helps to characterize and predict the course of the disease in individual patients. Ultrasound techniques including color Doppler imaging and contrast-enhanced ultrasound are promising imaging tools to determine disease activity and complications. Comparative studies between different imaging methods are needed. PMID:25954096

  15. Sleep Disordered Breathing and Nocturnal Hypoxemia in Young Adults with Sickle Cell Disease

    OpenAIRE

    Whitesell, P. L.; Owoyemi, O.; Oneal, P.; Nouraie, M.; Klings, E.S.; Rock, A.; Mellman, T. A.; Berihun, T.; Lavella, J.; Taylor, R. E.; Perrine, S.P.

    2016-01-01

    Sleep disordered breathing (SDB) is reported in up to 69% of adolescents and children with sickle cell disease (SCD) [1], but data regarding the prevalence of SDB in adults with SCD are limited. To obtain a preliminary assessment of the frequency and degree of sleep-related hypoxemia and potential associations with cardiovascular function in adults with SCD, we performed overnight sleep studies, 6-minute walk tests, echocardiograms, hematologic and chemistry panels, and administered the Pitts...

  16. Psychotropic medication use among patients with celiac disease.

    Science.gov (United States)

    Zylberberg, Haley M; Ludvigsson, Jonas F; Green, Peter H R; Lebwohl, Benjamin

    2018-03-27

    Celiac disease is a multi-system disorder with manifestations that may result in psychiatric disorders. We assessed the prevalence of medication use to treat psychiatric disorders in celiac disease patients. We conducted a cross-sectional study of patients undergoing esophagogastroduodenoscopy over 9-years at a celiac disease referral center. We compared the prevalence of psychotropic medication use among celiac disease patients (n = 1293) to a control group (n = 1401) with abdominal pain or reflux. Among all patients the mean age was 48.4 years, most were female (69.5%), and 22.7% used any psychotropic medication. There was no difference between overall psychotropic medication use among celiac disease patients and controls (23.9% vs 21.8%, OR 1.16; 95% CI 0.96-1.39, p = 0.12). However, those with celiac disease were more likely to use antidepressants on univariate (16.4% vs 13.4%, p = 0.03) and multivariate analysis (OR 1.28; 95% CI 1.03-1.59; p = 0.03). Use of psychotropic medications was not associated with disease duration or mode of presentation of celiac disease. Celiac disease patients use psychotropic medications at similar rates as those with other gastrointestinal diseases, though subgroup analysis suggests they may use more antidepressants. Future studies should investigate whether celiac disease is associated with mood disorders that are not treated with medications.

  17. The spectrum of bone disease in Jordanian hemodialysis patients

    International Nuclear Information System (INIS)

    Younes, Nidal A.; Al-Mansour, M.; Sroujieh, Ahmad S.; Wahbeh, A.; Ailabouni, W.; Hamzah, Y.; Mahafzah, W.

    2006-01-01

    To evaluate the spectrum of mineral abnormalities and bone disease (BD) in hemodialysis patients at Jordan University Hospital (JUH), Amman, Jordan. A cross-sectional study was conducted among 63 patients (38 males and 25 females), mean age 44.19 years (range 17-76 years), with chronic kidney disease (CKD) on regular hemodialysis at JUH between November 2004 and April 2005. All patients have undergone complete blood count, chemistry profile, alkaline phosphatase, serum albumin, intact parathyroid hormone (iPTH) and plain x-rays. Bone disorders were identified in 45 patients on x-rays (70%). Osteopenia was found in 43 patients (68.3%), subperiosteal resorption in 24 patients (38.3%) and metastatic calcification in 22 patients (35%). Hypocalcemia was found in 28.6% and hypercalcemia in 7.9%. All patients were taking calcium carbonate, and 55.5% of patients were on vitamin D supplements. The calcium levels in 63.5% and the phosphorus levels in 50.8% of patients were within the recommended guidelines of the National Kidney Foundation Kidney Disease Outcomes Quality Initiative (K/DOQI). Serum i-PTH level was above 300 pg/ml high turnover bone disease in 24.6% of patients, 21.3% had iPTH of 150-300 pg/ml target, and 44.3% had i-PTH levels below 100 pg/mL suggesting a dynamic bone disease. Patients with severe bone disease had a statistically significant higher iPTH levels (p<0.005). Bone disease and mineral abnormalities are common in hemodialysis patients at JUH. Earlier detection of bone disease and better overall management strategy may reduce the frequency and severity of bone disease in CKD patients in Jordan. (author)

  18. Patient-centered care in Parkinson's disease

    NARCIS (Netherlands)

    Eijk, M. van der

    2015-01-01

    Patient centeredness means providing care that is respectful of and responsive to individual patient preferences, needs and values, and ensuring that patient values guide all clinical decisions’.The concept assumes that both physicians and patients are experts; physicians in diagnostic and

  19. Perceived injustice predicts stress and pain in adults with sickle cell disease.

    Science.gov (United States)

    Ezenwa, Miriam O; Molokie, Robert E; Wilkie, Diana J; Suarez, Marie L; Yao, Yingwei

    2015-06-01

    Research evidence shows that perceived injustice is a context-based unfair treatment that has negative influence on health outcomes. We examined the contribution of patients' perceived injustice regarding interactions with health care providers to stress and pain in adults with sickle cell disease (SCD). This study was a cross-sectional correlational pilot study. Included in the study were adults with SCD who received their care from a university-affiliated comprehensive sickle cell clinic. Participants were 52 adults whose mean age was 34 ± 11 years (minimum [min] 20 years, maximum [max] 70 years). Most of the patients were African American (n = 48, 92%) and female (n = 41, 79%). Forty-eight patients (92%) reported having a high school diploma or higher. Participants completed the perceived injustice questionnaire, perceived stress questionnaire, and the PAINReportIt, which includes questions to measure pain and demographics. We analyzed the data using the linear regression analyses. Perceived injustice from doctors was a significant predictor of perceived stress (p Perceived injustice from nurses also was a significant predictor of perceived stress (p perceived injustice attributed to both doctors and nurses consistently predicted patients' perceived stress, but only the procedural and distributive domains of perceived injustice consistently predicted patients' pain. Findings suggest that perceived injustice was negatively associated with stress and pain in adults with SCD and warrant further investigation in a larger sample. Published by Elsevier Inc.

  20. Growth and nutritional status of children with homozygous sickle cell disease

    NARCIS (Netherlands)

    Al-Saqladi, A.-W. M.; Cipolotti, R.; Fijnvandraat, K.; Brabin, B. J.

    2008-01-01

    Background: Poor growth and under-nutrition are common in children with sickle cell disease (SCD). This review summarises evidence of nutritional status in children with SCD in relation to anthropometric status, disease severity, body composition, energy metabolism, micronutrient deficiency and

  1. Celiac disease and other autoimmune diseases in patients with collagenous colitis.

    Science.gov (United States)

    Vigren, Lina; Tysk, Curt; Ström, Magnus; Kilander, Anders F; Hjortswang, Henrik; Bohr, Johan; Benoni, Cecilia; Larson, Lasse; Sjöberg, Klas

    2013-08-01

    Collagenous colitis (CC) is associated with autoimmune disorders. The aim of the present study was to investigate the relationship between CC and autoimmune disorders in a Swedish multicenter study. Patients with CC answered questionnaires about demographic data and disease activity. The patient's files were scrutinized for information about autoimmune diseases. A total number of 116 CC patients were included; 92 women, 24 men, median age 62 years (IQR 55-73). In total, 30.2% had one or more autoimmune disorder. Most common were celiac disease (CeD; 12.9%) and autoimmune thyroid disease (ATD, 10.3%), but they also had Sjögren's syndrome (3.4%), diabetes mellitus (1.7%) and conditions in skin and joints (6.0%). Patients with associated autoimmune disease had more often nocturnal stools. The majority of the patients with associated CeD or ATD got these diagnoses before the colitis diagnosis. Autoimmune disorders occurred in one-third of these patients, especially CeD. In classic inflammatory bowel disease (IBD), liver disease is described in contrast to CC where no cases occurred. Instead, CeD was prevalent, a condition not reported in classic IBD. Patients with an associated autoimmune disease had more symptoms. Patients with CC and CeD had an earlier onset of their colitis. The majority of the patients with both CC and CeD were smokers. Associated autoimmune disease should be contemplated in the follow-up of these patients.

  2. Stroke in patients with sickle cell disease: clinical and neurological aspects Acidente cerebrovascular em pacientes com anemia falciforme: aspectos clínicos e neurológicos

    Directory of Open Access Journals (Sweden)

    Carolina Camargo de Oliveira

    2008-03-01

    Full Text Available The aim of this study was to characterize a group of patients (n=8 with sickle cell disease (SCD and ischemic stroke concerning the clinical, neurological, imaging and progressive aspects. Data were collected from records and completed with an interview of patients and their parents. In this study there were 8 patients with ages ranging from 10 to 23 years old; SCD diagnosis was given between one and two years of age with clinical features of fatigue and anemia. The stroke was ischemic in all individuals and the first cerebrovascular event occurred before 6 years of age; 3 patients had recurrence of stroke despite prophylactic blood transfusion therapy and both cerebral hemispheres were affected in 4 patients. Clinical and neurological current features observed were: acute pain crises, sialorrhea, mouth breathing, motor, and neuropsychological impairments resulting from cortical-subcortical structure lesions.O objetivo deste estudo foi caracterizar um grupo de sujeitos (n=8 com antecedentes de anemia falciforme (AF e acidente vascular cerebral (AVC isquêmico, dos pontos de vista clínico, neurológico, radiológico e evolutivo, reavaliados através de exame neurológico e neuropsicológico. A partir de prontuários dos sujeitos com diagnóstico comprovado de AF e AVC, coletamos dados, complementados por entrevista com pacientes e responsáveis. Foram avaliados 8 pacientes; atualmente com idades entre 10 e 23 anos; diagnóstico da AF entre um e dois anos; quadro clínico de fraqueza e anemia. Em todos, o AVC foi isquêmico e o primeiro evento na maioria ocorreu antes dos 6 anos de idade; houve recorrência do AVC em 3, apesar da profilaxia com transfusão sanguínea; ambos os hemisférios afetados em 4; no quadro clínico e neurológico atual constatamos crises dolorosas, sialorréia, respiração oral e importante comprometimento motor e neuropsicológico, resultantes de lesões estruturais cortico-subcorticais.

  3. Chagas disease and systemic autoimmune diseases among Bolivian patients in Switzerland

    Directory of Open Access Journals (Sweden)

    Yves Jackson

    2018-02-01

    Full Text Available BACKGROUND Chronic cardiomyopathy occurs in 20-40% of the patients with Chagas disease. Autoimmune mechanisms may contribute to its pathogenesis. We diagnosed several cases of systemic autoimmune diseases among Bolivian migrants in Geneva with a high prevalence of Chagas disease. OBJECTIVES We tested the hypothesis of a clinical association between systemic autoimmune diseases and Chagas disease, particularly with the development of cardiomyopathy. METHODS We retrospectively searched the medical records of all Bolivian patients visiting Geneva University Hospitals between 2012 and 2015 for diagnosis of Chagas disease or systemic autoimmune diseases. FINDINGS Of the 2,189 eligible patients, 28 [1.3%; 95% confidence interval (CI = 0.9-1.9%] presented with systemic autoimmune disease. The Chagas status was known in 903 (41.3% patient, of whom 244 (27.0%; 95% CI = 24.2-30.0% were positive. Eight (28.6%; 95% CI = 15.3-47.1% of the 28 cases of systemic autoimmune disease had Chagas disease. We found no association between both entities (p = 1.000 or with Chagasic cardiomyopathy (p = 0.729. Moreover, there was no evidence of a temporal relationship between antiparasitic chemotherapy and the development of systemic autoimmune diseases. CONCLUSIONS Our results do not support a clinical association between chronic Chagas disease and systemic autoimmune diseases. However, prospective studies in areas endemic for Chagas disease should better assess the prevalence of systemic autoimmune diseases and thus a possible relationship with this infection.

  4. Chagas disease and systemic autoimmune diseases among Bolivian patients in Switzerland.

    Science.gov (United States)

    Jackson, Yves; Pula, Drenusha Vieira de Mello; Finckh, Axel; Chizzolini, Carlo; Chappuis, François

    2018-02-05

    Chronic cardiomyopathy occurs in 20-40% of the patients with Chagas disease. Autoimmune mechanisms may contribute to its pathogenesis. We diagnosed several cases of systemic autoimmune diseases among Bolivian migrants in Geneva with a high prevalence of Chagas disease. We tested the hypothesis of a clinical association between systemic autoimmune diseases and Chagas disease, particularly with the development of cardiomyopathy. We retrospectively searched the medical records of all Bolivian patients visiting Geneva University Hospitals between 2012 and 2015 for diagnosis of Chagas disease or systemic autoimmune diseases. Of the 2,189 eligible patients, 28 [1.3%; 95% confidence interval (CI) = 0.9-1.9%] presented with systemic autoimmune disease. The Chagas status was known in 903 (41.3%) patient, of whom 244 (27.0%; 95% CI = 24.2-30.0%) were positive. Eight (28.6%; 95% CI = 15.3-47.1%) of the 28 cases of systemic autoimmune disease had Chagas disease. We found no association between both entities (p = 1.000) or with Chagasic cardiomyopathy (p = 0.729). Moreover, there was no evidence of a temporal relationship between antiparasitic chemotherapy and the development of systemic autoimmune diseases. Our results do not support a clinical association between chronic Chagas disease and systemic autoimmune diseases. However, prospective studies in areas endemic for Chagas disease should better assess the prevalence of systemic autoimmune diseases and thus a possible relationship with this infection.

  5. The burden of diverticular disease on patients and healthcare systems.

    Science.gov (United States)

    Reddy, Vikram B; Longo, Walter E

    2013-01-01

    Diverticulitis is a debilitating complication of diverticular disease that affects approximately 2.5 million individuals in the United States. Compared to many other gastrointestinal conditions, diverticular disease is poorly understood in terms of its burden on patients and healthcare systems. This review examines the existing literature and discusses the current knowledge of the burden of diverticular disease. Literature confirmed that bothersome symptoms (such as abdominal pain and bloating) and potentially serious, disease-related complications (such as diverticulitis and diverticular bleeding) place a significant burden on patients. Broad-spectrum antibiotic therapy and surgery are the generally accepted mainstays of treatment for acute complications of diverticular disease. Despite these options, patients frequently experience substantially reduced quality of life (particularly in terms of social and emotional functioning) and increased mortality (predominantly due to disease-related complications) compared to healthy controls. Furthermore, diverticular disease accounted for 254,179 inpatient discharges and 1,493,865 outpatient clinic visits in the United States in 2002, at an estimated cost per hospitalization of $9,742-$11,729. Enhancing the quality of life of patients with diverticular disease and reducing disease exacerbations and complications will substantially benefit patients and healthcare systems. However, long-established treatment algorithms fall short of these therapeutic goals. Research into new treatment options for patients with diverticular disease should therefore be pursued.

  6. Depression and loneliness in Jamaicans with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Lewis Norma A

    2010-06-01

    Full Text Available Abstract Background Sickle cell disease (SCD is the commonest genetic disorder in Jamaica, and has life-long implications for those afflicted with it. It is well known that depression and loneliness may exist in those with chronic diseases, but the coexistence of depression and loneliness in people with sickle cell disease is not clear. The aim of this study is to determine the prevalence of and factors associated with depression and loneliness in the Jamaica Sickle Cell Cohort Study and its age and sex matched controls. Methods 277 patients with SCD and 65 controls were administered a questionnaire that studied demographics, disease severity, depression, and loneliness. Regression analyses were done to examine relationships between outcomes and associated variables. Results Depression was found in 21.6% of patients and 9.4% in controls. Loneliness scores were also significantly higher in patients (16.9 ± 5.1 than in controls (14.95 ± 4.69. Depression was significantly associated with unemployment [OR = 2.9, p-value: In patients with SCD, depression was significantly associated with being unemployed (OR 2.4, 95% CI 1.2,4.6, p-value:0.01, presence of a leg ulcer (OR = 3.8, 95% CI: 1.7, 8.4, p-value: 0.001, frequent visits (OR = 3.3, 95% CI: 1.2, 8.9, p-value: 0.019, and frequent painful crises (OR = 2.5, 95% CI: 1.1, 5.8, p-value: 0.035. Not being employed (Coef.: 2.0; p-value: 0.004 and higher educational attainment (tertiary vs. primary education, Coef.: -5.5; p-value: Conclusions Health workers need to actively look for and manage these problems to optimize their patients' total biopsychosocial care.

  7. Depression and loneliness in Jamaicans with sickle cell disease.

    Science.gov (United States)

    Asnani, Monika R; Fraser, Raphael; Lewis, Norma A; Reid, Marvin E

    2010-06-07

    Sickle cell disease (SCD) is the commonest genetic disorder in Jamaica, and has life-long implications for those afflicted with it. It is well known that depression and loneliness may exist in those with chronic diseases, but the coexistence of depression and loneliness in people with sickle cell disease is not clear. The aim of this study is to determine the prevalence of and factors associated with depression and loneliness in the Jamaica Sickle Cell Cohort Study and its age and sex matched controls. 277 patients with SCD and 65 controls were administered a questionnaire that studied demographics, disease severity, depression, and loneliness. Regression analyses were done to examine relationships between outcomes and associated variables. Depression was found in 21.6% of patients and 9.4% in controls. Loneliness scores were also significantly higher in patients (16.9 +/- 5.1) than in controls (14.95 +/- 4.69). Depression was significantly associated with unemployment [OR = 2.9, p-value: loneliness.In patients with SCD, depression was significantly associated with being unemployed (OR 2.4, 95% CI 1.2,4.6, p-value:0.01), presence of a leg ulcer (OR = 3.8, 95% CI: 1.7, 8.4, p-value: 0.001), frequent visits (OR = 3.3, 95% CI: 1.2, 8.9, p-value: 0.019), and frequent painful crises (OR = 2.5, 95% CI: 1.1, 5.8, p-value: 0.035). Not being employed (Coef.: 2.0; p-value: 0.004) and higher educational attainment (tertiary vs. primary education, Coef.: -5.5; p-value: loneliness after adjusting for genotype. Health workers need to actively look for and manage these problems to optimize their patients' total biopsychosocial care.

  8. Impaired hapten sensitization in patients with autoimmune disease

    DEFF Research Database (Denmark)

    Bangsgaard, N; Engkilde, K; Menné, T

    2011-01-01

    An inverse relation between contact allergy and autoimmune diseases is suggested from epidemiological studies. The aim of this study was to investigate susceptibility and reactivity in patients with psoriasis, patients with diabetes and healthy controls in an experimental sensitization study. We...... in individuals with autoimmune diseases such as psoriasis....

  9. Role of hepatic resection for patients with carcinoid heart disease

    DEFF Research Database (Denmark)

    Bernheim, A.M.; Connolly, H.M.; Rubin, J.

    2008-01-01

    OBJECTIVE: To evaluate the effects of resection of hepatic carcinoid metastases on progression and prognosis of carcinoid heart disease. PATIENTS AND METHODS: From our database of 265 consecutive patients diagnosed as having carcinoid heart disease from January 1, 1980, through December 31, 2005,...

  10. Lipid profile in sickle cell disease patients with chronic kidney ...

    African Journals Online (AJOL)

    Background: Dyslipidaemia is reported to occur in patients with sickle cell disease as well as patients with chronic kidney disease irrespective of the haemoglobin genotype. This study aimed at evaluating lipid profile in subjects with sickle cell anaemia (HbSS), sickle cell trait (HbAS) and normal haemoglobin genotype ...

  11. An investigation of diverticular disease among black patients ...

    African Journals Online (AJOL)

    Diverticular disease is an acquired condition of the colon, characterised by protrusions of the colonic mucosa and ... To determine the current prevalence and characteristics of diver- ticular disease in black South Africans, ... dietary and social circumstances of the patient, and did not indicate where the patient resides or was ...

  12. Profile of Ear Diseases among Elderly Patients in Sagamu, South ...

    African Journals Online (AJOL)

    The importance of screening for hearing impairment in the elderly patients was also stressed. KEYWORDS: Cerumen, Ear disease, Elderly, Otitis, Presbycusis. Erratum Note: Olusola AS on the article “Profile of Ear Diseases among Elderly Patients in Sagamu, South-Western Nigeria” on Page Nig. J. Med 2013. 143-147.

  13. Physical inactivity and associated factors in chronic disease patients ...

    African Journals Online (AJOL)

    Physical inactivity and associated factors in chronic disease patients in Cambodia, Myanmar and Vietnam. ... Several factors were identified which may assist in programmes to promote physical activity in this population. Keywords: Physical inactivity, risk factors, chronic disease patients, Cambodia, Myanmar, Vietnam ...

  14. Management of the acute painful crisis in sickle cell disease- a re-evaluation of the use of opioids in adult patients.

    Science.gov (United States)

    Telfer, Paul; Bahal, Nawal; Lo, Alice; Challands, Joanne

    2014-07-01

    Management of the acute painful crisis (APC) of sickle cell disease (SCD) remains unsatisfactory despite advances in the understanding and management of acute pain in other clinical settings. One reason for this is an unsophisticated approach to the use of opioid analgesics for pain management. This applies to haematologists who are responsible for developing acute sickle pain management protocols for their patients, and to health care staff in the acute care setting. The objective of this article is to evaluate the evidence for use of opioids in APC management. We have highlighted the possibilities for improving management by using alternatives to morphine, and intranasal (IN) or transmucosal routes of administration for rapid onset of analgesia in the emergency department (ED). We suggest how experience gained in managing acute sickle pain in children could be extrapolated to adolescents and young adults. We have also questioned whether patients given strong opioids in the acute setting are being safely monitored and what resources are required to ensure efficacy, safety and patient satisfaction. We also identify aspects of care where there are significant differences of opinion, which require further study by randomized controlled trial. © 2014 John Wiley & Sons Ltd.

  15. Obstructive Sleep Apnea in Patients with Chronic Obstructive Pulmonary Disease

    Directory of Open Access Journals (Sweden)

    Pantaree Aswanetmane

    2014-07-01

    Full Text Available Obstructive sleep apnea (OSA and chronic obstructive pulmonary disease (COPD are common disorders in clinical practice and are associated with significant cardiovascular morbidity. The simultaneous occurrence of OSA and COPD happens frequently and is referred to as an overlap syndrome. These patients often have very poor quality sleep and more nocturnal hypoxemia. This combination may increase the severity of metabolic complications and cardiovascular disease, and these patients have increased mortality when compared to patients with either COPD or OSA alone. The treatment of overlap syndrome should focus on both coexisting diseases and includes continuous positive airway pressure, oxygen supplementation, and medications for chronic lung disease.

  16. New strategy in diagnostic, preventive and following way in osteonecrosis of sickle-cell disease in Cote d'Ivoire with bone scintigraphy

    International Nuclear Information System (INIS)

    Kouame-Koutouan, A.; Aboukoua-Kouassi, N.; Koffi, D.; Sery, J.M.; Meite, M.; Sanogo, I.

    2009-01-01

    Osteonecrosis is the most frequent complications of sickle-cell disease (S.C.D.) whose prevalence in Cote d'Ivoire is 21%. The main of this study was to compare scintigraphy, clinical and radiological observations to assess earlier diagnosis in S.C.D. osteonecrosis. It was a prospective study about 45 S.C.D. patients who presented coxopathy and had radio-labelled di phosphonates bone scintigraphy. The results revealed 49% of lesions whose 48% appeared with homogeneous hyper fixation, 11% homogeneous hypo fixation, 5% of hypo fixation got round by hyper fixation. Eighty-one percent of lesions concerned femoral head, 6% femoral condyle and 3% humoral head. Fifty percent of osteonecrosis was not visible in radiology and corresponded to the earlier stage. These invisible radiology aspects were observed in 100% hips without lameness, and in 43% permanent lameness. Scintigraphy (sensitive in 100%) isolated 38% more than conventional radiography. In main to improve S.C.D. osteonecrosis prognostic in Cote d'Ivoire, this preliminary study outline that scintigraphy is fundamental in management. (authors)

  17. The pattern of communicable disease in patients admitted into the ...

    African Journals Online (AJOL)

    Patients were divided into those with communicable and non-communicable disease and those with communicable diseases analysed for this study. Results: A total of two thousand four hundred and fourteen (2414) children were admitted during the period of study. Of these 1935 (80.2%) had communicable diseases and ...

  18. Factors associated with gastro-duodenal disease in patients ...

    African Journals Online (AJOL)

    Background: There is a high prevalence of gastro-duodenal disease in sub Saharan Africa. Peptic ulcer disease in dyspeptic patients, 24.5%, was comparable to prevalence of gastro-duodenal disease among symptomatic individuals in developed countries (12 – 25%). Limited data exists regarding its associated risk ...

  19. 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.

  20. Hormones and arterial stiffness in patients with chronic kidney disease.

    Science.gov (United States)

    Gungor, Ozkan; Kircelli, Fatih; Voroneanu, Luminita; Covic, Adrian; Ok, Ercan

    2013-01-01

    Cardiovascular disease constitutes the major cause of mortality in patients with chronic kidney disease. Arterial stiffness is an important contributor to the occurrence and progression of cardiovascular disease. Various risk factors, including altered hormone levels, have been suggested to be associated with arterial stiffness. Based on the background that chronic kidney disease predisposes individuals to a wide range of hormonal changes, we herein review the available data on the association between arterial stiffness and hormones in patients with chronic kidney disease and summarize the data for the general population.

  1. Anorectal Complications During Neutropenic Period in Patients with Hematologic Diseases

    Science.gov (United States)

    Solmaz, Soner; Korur, Aslı; Gereklioğlu, Çiğdem; Asma, Süheyl; Büyükkurt, Nurhilal; Kasar, Mutlu; Yeral, Mahmut; Kozanoğlu, İlknur; Boğa, Can; Ozdoğu, Hakan

    2016-01-01

    Background Neutropenic patients are susceptible to any anorectal disease, and symptomatic anorectal disease afflicts 2–32% of oncology patients. Perianal infections are the most feared complication, considering the lack of natural defense against infectious microorganisms. When septic complications develop, the anorectal disease is potentially fatal, especially in neutropenic patients in whom mortality rates range between 11–57%. Although anorectal diseases are a frequent complication with potentially fatal outcomes among patients with hematologic diseases, sufficient data are not available in the literature. In this study, we aimed to investigate the anorectal complications developing during the neutropenic period in patients with hematologic diseases. Methods A total of 79 patients whose neutropenic period (absolute neutrophil count <500/mcL) continued for 7 days, or longer were included in the study. Results A total of 34 patients out of 79 (43%) were detected to develop anorectal complications, of them 6 (7.6%) developed an anorectal infection. The patients were characterized according to the hematological disease and its status (active or not), the type of treatment and the presence of a history of an anorectal pathology before the onset of the hematologic disease. Nineteen (24.1%) patients had the history of anorectal disturbances before diagnosis of the hematologic disease, and recurrence of an anorectal pathology was found in 14 out of 19 patients(73.7%). In addition, the overall mortality rate was higher among the patients who developed anorectal complications compared to another group (41.2% vs. 22.2%, p=0.059). Conclusion Anorectal pathology is a common complication with high recurrence rate in neutropenic patients. Perianal infections are important as they can cause life-threatening outcomes although they are relatively rare among all anorectal complications. Therefore perianal signs and symptoms should be meticulously evaluated concerning early

  2. Anorectal Complications During Neutropenic Period in Patients with Hematologic Diseases.

    Science.gov (United States)

    Solmaz, Soner; Korur, Aslı; Gereklioğlu, Çiğdem; Asma, Süheyl; Büyükkurt, Nurhilal; Kasar, Mutlu; Yeral, Mahmut; Kozanoğlu, İlknur; Boğa, Can; Ozdoğu, Hakan

    2016-01-01

    Neutropenic patients are susceptible to any anorectal disease, and symptomatic anorectal disease afflicts 2-32% of oncology patients. Perianal infections are the most feared complication, considering the lack of natural defense against infectious microorganisms. When septic complications develop, the anorectal disease is potentially fatal, especially in neutropenic patients in whom mortality rates range between 11-57%. Although anorectal diseases are a frequent complication with potentially fatal outcomes among patients with hematologic diseases, sufficient data are not available in the literature. In this study, we aimed to investigate the anorectal complications developing during the neutropenic period in patients with hematologic diseases. A total of 79 patients whose neutropenic period (absolute neutrophil count <500/mcL) continued for 7 days, or longer were included in the study. A total of 34 patients out of 79 (43%) were detected to develop anorectal complications, of them 6 (7.6%) developed an anorectal infection. The patients were characterized according to the hematological disease and its status (active or not), the type of treatment and the presence of a history of an anorectal pathology before the onset of the hematologic disease. Nineteen (24.1%) patients had the history of anorectal disturbances before diagnosis of the hematologic disease, and recurrence of an anorectal pathology was found in 14 out of 19 patients(73.7%). In addition, the overall mortality rate was higher among the patients who developed anorectal complications compared to another group (41.2% vs. 22.2%, p=0.059). Anorectal pathology is a common complication with high recurrence rate in neutropenic patients. Perianal infections are important as they can cause life-threatening outcomes although they are relatively rare among all anorectal complications. Therefore perianal signs and symptoms should be meticulously evaluated concerning early diagnosis and treatment.

  3. Factors contributing to malnutrition in patients with Parkinson's disease.

    Science.gov (United States)

    Kim, Sung R; Chung, Sun J; Yoo, Sung-Hee

    2016-04-01

    Our objective in this study was to evaluate the nutritional status and to identify clinical, psychosocial, and nutritional factors contributing to malnutrition in Korean patients with Parkinson's disease. We used a descriptive, cross-sectional study design. Of 102 enrolled patients, 26 (25.5%) were malnourished and 27 (26.5%) were at risk of malnutrition based on Mini-Nutritional Assessment scores. Malnutrition was related to activity of daily living score, Hoehn and Yahr stage, duration of levodopa therapy, Beck Depression Inventory and Spielberger's Anxiety Inventory scores, body weight, body weight at onset of Parkinson's disease, and body mass index. On multiple logistic regression analysis, anxiety score, duration of levodopa therapy, body weight at onset of Parkinson's disease, and loss of body weight were significant factors predicting malnutrition in Parkinson's disease patients. Therefore, nutritional assessment, including psychological evaluation, is required for Parkinson's disease patients to facilitate interdisciplinary nutritional intervention for malnourished patients. © 2014 John Wiley & Sons Australia, Ltd.

  4. Soluble CD44 concentration in the serum and peritoneal fluid samples of patients with different stages of endometriosis.

    Science.gov (United States)

    Mashayekhi, Farhad; Aryaee, Hadis; Mirzajani, Ebrahim; Yasin, Ashraf Ale; Fathi, Abdolsatar

    2015-09-01

    Endometriosis is a gynecological disease defined by the histological presence of endometrial glands and stroma outside the uterine cavity, most commonly implanted over visceral and peritoneal surface within the female pelvis. CD44 is a membrane protein expressed by human endometrial cells, and it has been shown to promote the adhesion of endometrial cells. The aim of this study was to determine the levels of soluble CD44 (sCD44) in the serum and peritoneal fluid (PF) samples of patients with different stages of endometriosis. 39 PF and serum samples from normal healthy and 130 samples from different stages of patients with endometriosis (33 cases of stage I, 38 stage II, 30 stage III and 29 stage IV) were included in this study. Total protein concentration (TPC) and the level of s-cMet in the serum were determined by Bio-Rad protein assay based on the Bradford dye procedure and enzyme-linked immunosorbent assay, respectively. No significant change in the TPC was seen in the serum of patients with endometriosis when compared to normal controls. Results obtained demonstrated that all serum and peritoneal fluid samples, presented sCD44 expression, whereas, starting from stages I to IV endometriosis, a significant increase of sCD44 expression was observed as compared to control group. The results of this study show that a high expression of sCD44 is correlated with advanced stages of endometriosis. It is also concluded that the detection of serum and/or peritoneal fluid sCD44 may be useful in classifying endometriosis.

  5. Cardiovascular disease in patients with osteogenesis imperfecta

    DEFF Research Database (Denmark)

    Folkestad, Lars; Hald, Jannie Dahl; Gram, Jeppe

    2016-01-01

    BACKGROUND: Osteogenesis imperfecta (OI) is a hereditary connective tissue disease often due to mutations in genes coding for type 1 collagen. Collagen type 1 is important in the development of the heart and vasculature. Little is known about the risk of cardiovascular disease (CVD) in OI...

  6. Osteoporosis in chronic obstructive pulmonary disease patients

    DEFF Research Database (Denmark)

    Jørgensen, Niklas Rye; Schwarz, Peter

    2008-01-01

    The purpose of this review is to examine the state of knowledge and clinical practice in the association of chronic obstructive pulmonary disease to osteoporosis and fracture incidence.......The purpose of this review is to examine the state of knowledge and clinical practice in the association of chronic obstructive pulmonary disease to osteoporosis and fracture incidence....

  7. Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients

    DEFF Research Database (Denmark)

    Chondrou, Vasiliki; Kolovos, Petros; Sgourou, Argyro

    2017-01-01

    -transfusion-dependent β-thalassemia patients, β-thalassemia major patients, compound heterozygous sickle cell disease/β-thalassemia patients receiving hydroxyurea as fetal hemoglobin augmentation treatment, and non-thalassemic individuals indicated that VEGFA genomic variants were associated with disease severity in β-thalassemia...... patients and hydroxyurea treatment efficacy in SCD/β-thalassemia compound heterozygous patients. Conclusions: Our findings suggest that VEGFA may act as a modifier gene of human globin gene expression and, at the same time, serve as a genomic biomarker in β-type hemoglobinopathy disease severity...

  8. Epiretinal membrane removal in patients with Stargardt disease

    Directory of Open Access Journals (Sweden)

    Muna Bhende

    2015-01-01

    Full Text Available Epiretinal membranes (ERMs in Stargardt disease have been known to undergo spontaneous separation in children. Results of surgical intervention in adult patients with Stargardt disease have rarely been reported. A retrospective review of results of surgical intervention for ERM causing visual impairment in two adult patients of Stargardt disease was carried out. Both patients developed ERM in one eye during their follow-up period with the resultant drop in their preexisting visual acuity. Postsurgery, restoration of foveal contour with some improvement in visual acuity was observed in both patients. No adverse effect of surgery was noted.

  9. Medications Used for Cognitive Enhancement in Patients With Schizophrenia, Bipolar Disorder, Alzheimer's Disease, and Parkinson's Disease.

    Science.gov (United States)

    Hsu, Wen-Yu; Lane, Hsien-Yuan; Lin, Chieh-Hsin

    2018-01-01

    Cognitive impairment, which frequently occurs in patients with schizophrenia, bipolar disorder, Alzheimer's disease, and Parkinson's disease, has a significant impact on the daily lives of both patients and their family. Furthermore, since the medications used for cognitive enhancement have limited efficacy, the issue of cognitive enhancement still remains a clinically unsolved challenge. We reviewed the clinical studies (published between 2007 and 2017) that focused on the efficacy of medications used for enhancing cognition in patients with schizophrenia, bipolar disorder, Alzheimer's disease, and Parkinson's disease. Acetylcholinesterase inhibitors and memantine are the standard treatments for Alzheimer's disease and Parkinson's disease. Some studies have reported selective cognitive improvement in patients with schizophrenia following galantamine treatment. Newer antipsychotics, including paliperidone, lurasidone, aripiprazole, ziprasidone, and BL-1020, have also been reported to exert cognitive benefits in patients with schizophrenia. Dopaminergic medications were found to improve language function in patients with Parkinson's disease. However, no beneficial effects on cognitive function were observed with dopamine agonists in patients with schizophrenia. The efficacies of nicotine and its receptor modulators in cognitive improvement remain controversial, with the majority of studies showing that varenicline significantly improved the cognitive function in schizophrenic patients. Several studies have reported that N -methyl-d-aspartate glutamate receptor (NMDAR) enhancers improved the cognitive function in patients with chronic schizophrenia. NMDAR enhancers might also have cognitive benefits in patients with Alzheimer's disease or Parkinson's disease. Raloxifene, a selective estrogen receptor modulator, has also been demonstrated to have beneficial effects on attention, processing speed, and memory in female patients with schizophrenia. Clinical trials with

  10. Hypoxia and inflammation in children with sickle cell disease: implications for hippocampal functioning and episodic memory.

    Science.gov (United States)

    Iampietro, Mary; Giovannetti, Tania; Tarazi, Reem

    2014-06-01

    Children with sickle cell disease (SCD) suffer from systemic processes (e.g., chronic anemia, recurrent hypoxic-ischemic events, chronic inflammation) that have been associated with neurocognitive impairment in a range of clinical populations, but which have been largely understudied in relation to specific domains of cognitive functioning in children with SCD. This review focuses on episodic memory, as the hippocampus may be especially vulnerable to the systemic processes associated with SCD. The first part of the paper outlines the pathophysiology of SCD and briefly reviews the extant literature on academic and cognitive functioning in children with SCD, emphasizing the dearth of research on episodic memory. Next, the complex systemic processes of hypoxia and inflammation associated with SCD are reviewed, along with research that has associated these processes with hippocampal damage and memory impairment. The paper concludes with suggestions for future research that are informed, in part, by the literature on developmental amnesia.