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Sample records for cell disease patients

  1. Collection of hematopoietic stem cells from patients with autoimmune diseases

    NARCIS (Netherlands)

    Burt, RK; Fassas, A; Snowden, JA; Kozak, T; Wulffraat, NM; Nash, RA; Dunbar, CE; Arnold, R; Prentice, G; Bingham, S; Marmont, AM; McSweeney, PA; van Laar, J.M.

    2001-01-01

    We reviewed data from 24 transplant centers in Asia, Australia, Europe, and North America to determine the outcomes of stem cell collection including methods used, cell yields, effects on disease activity, and complications in patients with autoimmune diseases. Twenty-one unprimed bone marrow harves

  2. Systemic lupus erythematosus in patients with sickle cell disease.

    Science.gov (United States)

    Appenzeller, Simone; Fattori, Andre; Saad, Sarita T; Costallat, Lilian T L

    2008-03-01

    Sickle cell disease (SCD) is a prevalent genetic disorder that includes sickle cell anemia (hemoglobin SS), hemoglobin SC, and hemoglobin Sb-thalassemia. Patients with SCD present with a defective activation of the alternate pathway of the complement system that increases the risk of capsulate bacteria infection and failure to eliminate antigens, predisposing these patients to autoimmune diseases. The authors describe three patients with SCD that developed systemic lupus erythematosus (SLE). In all patients, SLE diagnosis was delayed because symptoms were initially attributable to SCD. Physicians should be alerted to the possible development of SLE in patients with SCD to not delay the diagnosis and start appropriate treatment. PMID:18000698

  3. Management of the patient with sickle cell disease.

    Science.gov (United States)

    Rausch, M; Pollard, D

    1998-01-01

    Sickle cell disease is a group of genetic disorders of hemoglobin synthesis, of which sickle cell anemia is the most severe. In the United States, sickle cell disease primarily affects persons of African-American and Hispanic origin. An estimated 50,000 Americans have the disease, and approximately 2.5 million persons carry the sickle cell trait. The primary pathophysiologic features are chronic hemolysis and vaso-occlusion. This disease is recurrent and unpredictable, causing considerable physiologic and psychologic stress. This article provides an overview of the disease and addresses the role of the infusion nurse in the care and support of the patient with sickle cell disease in the hospital and home setting. PMID:9515479

  4. Towards safer surgery in patients with sickle cell disease

    International Nuclear Information System (INIS)

    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)

  5. 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.

  6. Cardiac stem cells in patients with heart disease

    OpenAIRE

    Zhao, Xiaohui; Huang, Lan

    2013-01-01

    The heart has been regarded as a terminally differentiated organ for decades. There are numerous indicators for the potency of myocardial regeneration, which opens up new avenues for the treatment of heart disease. Cardiac stem cells (CSCs) have been discovered in the human heart and they play a vital role in myocardial regeneration. This review discusses the distribution, properties and proliferation of CSCs in the myocardium of patients with heart disease. Additionally, the potency of myoca...

  7. 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.

  8. 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.

  9. Acquired cystic disease and renal cell carcinoma in hemodialysis patients: A case report on three patients

    Directory of Open Access Journals (Sweden)

    Mijušković Mirjana

    2015-01-01

    Full Text Available Introduction. Renal cell carcinoma (RCC is derived from renal tubular epithelial cells and represents approximately 3.8% of all malignancies in adults. The incidence of renal cell carcinoma has been growing steadily and ranging from 0.6 to 14.7 for every 100,000 inhabitants. Patients with end-stage renal disease and acquired cystic kidney disease are at increased risk of developing RCC while undergoing dialysis treatment or after renal transplantation. Case report. We presented 3 patients undergoing hemodialysis, with acquired cystic kidney disease accompanied by the development of RCC. In all the patients tumor was asymptomatic and discovered through ultrasound screening in 2 patients and in 1 of the patients by post-surgery pathohistological analysis of the tissue of the kidney excised using nephrectomy. All the three patients had organ-limited disease at the time of the diagnosis and they did not require additional therapy after surgical treatment. During the follow- up after nephrectomy from 6 months to 7 years, local recurrence or metastasis of RCC were not diagnosed. Conclusion. Acquired cystic kidney disease represents a predisposing factor for the development of renal cell carcinoma in dialysis patients and requires regular ultrasound examinations of the abdomen aimed at early diagnosis of malignancies. Prognosis for patients with endstage renal disease and RCC is mostly good because these tumors are usually of indolent course.

  10. Risk factors for alloimmunization by patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    M. Murao

    2005-05-01

    Full Text Available Blood transfusion in patients with sickle cell disease (SCD is limited by the development of alloantibodies to erythrocytes. In the present study, the frequency and risk factors for alloimmunization were determined. Transfusion records and medical charts of 828 SCD patients who had been transfused and followed at the Belo Horizonte Blood Center, Belo Horizonte, MG, Brazil, were retrospectively reviewed. Alloimmunization frequency was 9.9% (95% CI: 7.9 to 11.9% and 125 alloantibodies were detected, 79% of which belonged to the Rhesus and Kell systems. Female patients developed alloimmunization more frequently (P = 0.03. The median age of the alloimmunized group was 23.3 years, compared to 14.6 years for the non-alloimmunized group (P < 0.0001. Multivariate analyses were applied to the data for 608 hemoglobin (Hb SS or SC patients whose number of transfusions was recorded accurately. Number of transfusions (P = 0.00006, older age (P = 0.056 and Hb SC (P = 0.02 showed independent statistical associations with alloimmunization. Hb SC patients older than 14 years faced a 2.8-fold higher (95% CI: 1.3 to 6.0 risk of alloimmunization than Hb SS patients. Female Hb SC patients had the highest risk of developing alloantibodies. In patients younger than 14 years, only the number of transfusions was significant. We conclude that an increased risk of alloimmunization was associated with older patients with Hb SC, specially females, even after adjustments were made for the number of transfusions received, the most significant variable.

  11. Relationship between pulmonary and cardiac abnormalities in sickle cell disease: implications for the management of patients

    OpenAIRE

    Maria Christina Paixão Maioli; Andrea Ribeiro Soares; Ricardo Bedirian; Ursula David Alves; Cirlene de Lima Marinho; Agnaldo José Lopes

    2016-01-01

    ABSTRACT Objective: To evaluate the association between clinical, pulmonary, and cardiovascular findings in patients with sickle cell disease and, secondarily, to compare these findings between sickle cell anemia patients and those with other sickle cell diseases. Methods: Fifty-nine adults were included in this cross-sectional study; 47 had sickle cell anemia, and 12 had other sickle cell diseases. All patients underwent pulmonary function tests, chest computed tomography, and echocardiogr...

  12. Relationship between pulmonary and cardiac abnormalities in sickle cell disease: implications for the management of patients

    OpenAIRE

    Maioli, Maria Christina Paixão; Soares, Andrea Ribeiro; Bedirian, Ricardo; Alves, Ursula David; de Lima Marinho, Cirlene; Lopes, Agnaldo José

    2015-01-01

    Objective To evaluate the association between clinical, pulmonary, and cardiovascular findings in patients with sickle cell disease and, secondarily, to compare these findings between sickle cell anemia patients and those with other sickle cell diseases. Methods Fifty-nine adults were included in this cross-sectional study; 47 had sickle cell anemia, and 12 had other sickle cell diseases. All patients underwent pulmonary function tests, chest computed tomography, and echocardiography. Results...

  13. Relationship between pulmonary and cardiac abnormalities in sickle cell disease: implications for the management of patients

    OpenAIRE

    Maria Christina Paixão Maioli; Andrea Ribeiro Soares; Ricardo Bedirian; Ursula David Alves; Cirlene de Lima Marinho; Agnaldo José Lopes

    2015-01-01

    ABSTRACT Objective: To evaluate the association between clinical, pulmonary, and cardiovascular findings in patients with sickle cell disease and, secondarily, to compare these findings between sickle cell anemia patients and those with other sickle cell diseases. Methods: Fifty-nine adults were included in this cross-sectional study; 47 had sickle cell anemia, and 12 had other sickle cell diseases. All patients underwent pulmonary function tests, chest computed tomography, and echocardiogr...

  14. Molecular matching of red blood cells is superior to serological matching in sickle cell disease patients

    Directory of Open Access Journals (Sweden)

    Daiane Cobianchi da Costa

    2013-01-01

    Full Text Available OBJECTIVE: To evaluate the usefulness of DNA methods to provide a means to precisely genotypically match donor blood units for the antigen-negative type of 35 sickle cell disease patients<. METHODS: Red blood cell units were investigated for ABO, D, C, c, E, e, K, Fyª, Fy b, Jkª, Jk b, S, s, Diª and RH variants by performing a molecular array (Human Erythrocyte Antigen BeadChipTM, BioArray Solutions, polymerase chain reaction followed by restriction fragment length polymorphism analysis and sequencing of patient samples and donor units that had been serologically matched based on the ABO, Rh and K phenotypes and the presence of antibodies. RESULTS: Matches for 21 of 35 sickle cell disease patients presented discrepancies or mismatches for multiple antigens between the genotype profile and the antigen profile of their serologically-matched blood units. The main discrepancies or mismatches occurred in the RH, FY, JK and MNS systems. Eight Rh alloimmunized patients presented RHD and RHCE variants that had not been serologically identified. According to these results better matches were found for the patients with genotyped units and the patients benefited as shown by better in vivo red blood cell survival. CONCLUSION: Molecular matching is superior to serological matching in sickle cell disease patients, decreasing the risk of transfusion reactions, especially delayed transfusion reactions to existing alloantibodies and preventing alloimmunization.

  15. GVHD (Graft-Versus-Host Disease): A Guide for Patients and Families After Stem Cell Transplant

    Science.gov (United States)

    ... Disease): A guide for patients and families after stem cell transplant The immune system is the body's tool ... and attacking them. When you receive a donor's stem cells (the “graft”), the stem cells recreate the donor's ...

  16. Patient-derived stem cells: pathways to drug discovery for brain diseases

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    Alan Mackay-Sim

    2013-03-01

    Full Text Available The concept of drug discovery through stem cell biology is based on technological developments whose genesis is now coincident. The first is automated cell microscopy with concurrent advances in image acquisition and analysis, known as high content screening (HCS. The second is patient-derived stem cells for modelling the cell biology of brain diseases. HCS has developed from the requirements of the pharmaceutical industry for high throughput assays to screen thousands of chemical compounds in the search for new drugs. HCS combines new fluorescent probes with automated microscopy and computational power to quantify the effects of compounds on cell functions. Stem cell biology has advanced greatly since the discovery of genetic reprogramming of somatic cells into induced pluripotent stem cells (iPSCs. There is now a rush of papers describing their generation from patients with various diseases of the nervous system. Although the majority of these have been genetic diseases, iPSCs have been generated from patients with complex diseases (schizophrenia and sporadic Parkinson’s disease. Some genetic diseases are also modelled in embryonic stem cells generated from blastocysts rejected during in vitro fertilisation. Neural stem cells have been isolated from post-mortem brain of Alzheimer’s patients and neural stem cells generated from biopsies of the olfactory organ of patients is another approach. These “olfactory neurosphere-derived” cells demonstrate robust disease-specific phenotypes in patients with schizophrenia and Parkinson’s disease. High content screening is already in use to find small molecules for the generation and differentiation of embryonic stem cells and induced pluripotent stem cells. The challenges for using stem cells for drug discovery are to develop robust stem cell culture methods that meet the rigorous requirements for repeatable, consistent quantities of defined cell types at the industrial scale necessary for high

  17. Circulating activated T cell subsets in autoimmune thyroid diseases: differences between untreated and treated patients.

    Science.gov (United States)

    Ohashi, H; Okugawa, T; Itoh, M

    1991-11-01

    To investigate the relationships between lymphocyte subsets and thyroid function, peripheral blood lymphocytes were analysed with cell surface antigens of activated (HLA-DR+) T, helper T (CD4+ 2H4-, CD4+ 4B4+) and suppressor-inducer T (CD4+ 2H4+, CD4+ 4B4-) cells subsets in 56 patients with Graves' disease, 16 patients with Hashimoto's thyroiditis, 7 patients with typical subacute thyroiditis and 2 patients with the thyrotoxic phase of autoimmune thyroiditis. Both patients with Graves' disease and Hashimoto's thyroiditis had increased percentages of HLA-DR+ T (Ia+ CD3+) cells as well as HLA-DR+ helper-inducer T (Ia+ CD4+) cells, which seemed to be independent of treatments. The percentage of HLA-DR+ suppressor-cytotoxic T (Ia+ CD8+) cells was increased in euthyroid or hypothyroid patients with Graves' disease following treatment, but was normal in hyperthyroid patients. The percentages of Ia+ CD4+ cells and Ia+ CD8+ were also increased in patients with thyroiditis, whereas these abnormal values normalized in the remission phase. These findings suggest that an increase in Ia+ CD4+ cells characteristically occurs during immune system activation in patients with hyperthyroid Graves' disease, Hashimoto's thyroiditis and the thyrotoxic phase of subacute thyroiditis, whereas the activated CD8+ cells in Graves' disease are induced by antithyroidal therapy. PMID:1684685

  18. Relationship between pulmonary and cardiac abnormalities in sickle cell disease: implications for the management of patients

    Directory of Open Access Journals (Sweden)

    Maria Christina Paixão Maioli

    2016-02-01

    Full Text Available ABSTRACT Objective: To evaluate the association between clinical, pulmonary, and cardiovascular findings in patients with sickle cell disease and, secondarily, to compare these findings between sickle cell anemia patients and those with other sickle cell diseases. Methods: Fifty-nine adults were included in this cross-sectional study; 47 had sickle cell anemia, and 12 had other sickle cell diseases. All patients underwent pulmonary function tests, chest computed tomography, and echocardiography. Results: Abnormalities on computed tomography, echocardiography, and pulmonary function tests were observed in 93.5%, 75.0%; and 70.2% of patients, respectively. A higher frequency of restrictive abnormalities was observed in patients with a history of acute chest syndrome (85% vs. 21.6%; p-value < 0.0001 and among patients with increased left ventricle size (48.2% vs. 22.2%; p-value = 0.036, and a higher frequency of reduced respiratory muscle strength was observed in patients with a ground-glass pattern (33.3% vs. 4.3%; p-value = 0.016. Moreover, a higher frequency of mosaic attenuation was observed in patients with elevated tricuspid regurgitation velocity (61.1% vs. 24%; p-value = 0.014. Compared to patients with other sickle cell diseases, sickle cell anemia patients had suffered increased frequencies of acute pain episodes, and acute chest syndrome, and exhibited mosaic attenuation on computed tomography, and abnormalities on echocardiography. Conclusion: A significant interrelation between abnormalities of the pulmonary and cardiovascular systems was observed in sickle cell disease patients. Furthermore, the severity of the cardiopulmonary parameters among patients with sickle cell anemia was greater than that of patients with other sickle cell diseases.

  19. Squamous cell carcinoma of hypopharynx in a patient with history of celiac disease

    Institute of Scientific and Technical Information of China (English)

    A Akhavan; A Seifadini

    2012-01-01

    Celiac disease is a gluten-related malabsorption in small intestine occurring in genetically susceptible patients. In this disease the risk of many malignancies is increased the most important of which being non-Hodgkin lymphoma of small intestine. Other malignancies include adenocarcinoma of small intestine and squamous cell carcinoma of esophagus and melanoma. As to our knowledge so far only one case of celiac disease associated with hypopharyngeal squamous cell carcinoma has been reported. In this article we presented a patient suffering from celiac disease with squamous cell carcinoma of hypopharynx. She underwent chemotherapy and radiation therapy, unfortunately however she died because of progress of disease. So, in patients with celiac disease we should pay attention to various malignancies and when cases of cancers are accompanied by malabsorption we must think of celiac disease involvement.

  20. Pichia anomala (Candida pelliculosa) Fungemia in a Patient with Sickle Cell Disease

    OpenAIRE

    Chan, Austin W.; Cartwright, Emily J.; Reddy, Sujan C.; Kraft, Colleen S.; Wang, Yun F. (Wayne)

    2013-01-01

    This case report discusses a patient with sickle cell disease who presented with fungemia from Pichia anomala (teleomorph: Candida pelliculosa). The organism was identified as P. anomala by MALDI-TOF VITEK mass spectrometry and VITEK 2 yeast identification card. Pichia anomala should be considered in sickle cell patients with recurrent fungemia.

  1. Surgical management of osteonecrosis of the femoral head in patients with sickle cell disease.

    Science.gov (United States)

    Kamath, Atul F; McGraw, Michael H; Israelite, Craig L

    2015-11-18

    Sickle cell disease is a known risk factor for osteonecrosis of the hip. Necrosis within the femoral head may cause severe pain, functional limitations, and compromise quality of life in this patient population. Early stages of avascular necrosis of the hip may be managed surgically with core decompression with or without autologous bone grafting. Total hip arthroplasty is the mainstay of treatment of advanced stages of the disease in patients who have intractable pain and are medically fit to undergo the procedure. The management of hip pathology in sickle cell disease presents numerous medical and surgical challenges, and the careful perioperative management of patients is mandatory. Although there is an increased risk of medical and surgical complications in patients with sickle cell disease, total hip arthroplasty can provide substantial relief of pain and improvement of function in the appropriately selected patient. PMID:26601059

  2. 78 FR 66747 - Sickle Cell Disease Public Meeting on Patient-Focused Drug Development

    Science.gov (United States)

    2013-11-06

    ...The Food and Drug Administration (FDA) is announcing a public meeting and an opportunity for public comment on Patient-Focused Drug Development for sickle cell disease. Patient-Focused Drug Development is part of FDA's performance commitments in the fifth authorization of the Prescription Drug User Fee Act (PDUFA V). The public meeting is intended to allow FDA to obtain patients' perspectives......

  3. Sensorineural Hearing Affection In Sickle Cell Disease Patients With Chronic Renal Failure Under Dialysis

    Directory of Open Access Journals (Sweden)

    Saeed Abdelwhab Saeed MD*, Magdy M El Sharkawy

    2002-09-01

    Full Text Available Objective: to study the problem of hearing loss in patients of chronic renal failure on regular haemodialysis and The factors which affect it. And to study the effect of sickle cell disease on hearing loss. we studied hearing loss in dialysis patients, sickle cell disease patients and patients of sickle cell disease with chronic renal failure under dialysis compared to normal control subjects. Design: !"",include sickle cell disease patients with chronic renal fa"# $%& ' ", i ,nclude ( # #"# $%&'", , ,( #&'", i 9nclude the normal *+&*+' All groups are subjected to full history, thorough clinical examination including neurological and ENT examination, investigations includes Hb, s. creatinine, s.albumen, s.calcium and calculation of kt/v for dialysis patients. Full audiological assessment, using #,-GSI audiometer was done for all groups with special concentration at frequency of - .Results: hearing loss was found in patients with chronic renal failure more than normal control. Patient with sickle cell disease have hearing disorders significantly higher than $/%- .% 0( # #cell disease have significantly. Marked degree of SNHL than those with SCD only. Hearing loss in patients with 12( # * 3 &4 !4! '#"#"patients with chronic renal failure with or without SCD correlate with duration of dialysis , presence of peripheral neuropathy, s. calcium level, efficiency of dialysis marked by kt/v. Conclusion and recommendation: hearing disorder is common in patients with chronic renal failure under regular haemodialysis and it increase with duration of dialysis it should be suspected if there is Peripheral neuropathy. It can be reduced with efficient dialysis, correction of anemia, adjustment of calcium level. Patients with SCD suffer also some degree of hearing loss especially at higher frequency and this degree of hearing loss

  4. Oral magnesium supplements reduce erythrocyte dehydration in patients with sickle cell disease.

    OpenAIRE

    de Franceschi, L; Bachir, D; Galacteros, F.; Tchernia, G; Cynober, T; Alper, S; Platt, O; Beuzard, Y.; BRUGNARA, C

    1997-01-01

    Intracellular polymerization and sickling depend markedly on the cellular concentration of sickle hemoglobin (Hb S). A possible therapeutic strategy for sickle cell disease is based on reducing the cellular concentration of Hb S through prevention of erythrocyte dehydration. The K-Cl cotransporter is a major determinant of sickle cell dehydration and is inhibited by increasing erythrocyte Mg content. We studied 10 patients with sickle cell disease before treatment and after 2 and 4 wk of trea...

  5. Successful disease-specific induced pluripotent stem cell generation from patients with kidney transplantation

    OpenAIRE

    Thatava, Tayaramma; Armstrong, Adam S.; De Lamo, Josep Genebriera; Edukulla, Ramakrishna; Khan, Yulia Krotova; Sakuma, Toshie; Ohmine, Seiga; Sundsbak, Jamie L; Harris, Peter C.; Kudva, Yogish C.; Ikeda, Yasuhiro

    2011-01-01

    Introduction End-stage renal disease (ESRD) is a major public health problem. Although kidney transplantation is a viable therapeutic option, this therapy is associated with significant limitations, including a shortage of donor organs. Induced pluripotent stem (iPS) cell technology, which allows derivation of patient-specific pluripotent stem cells, could provide a possible alternative modality for kidney replacement therapy for patients with ESRD. Methods The feasibility of iPS cell generat...

  6. Frequency of red cell, leukocytic and platelet alloantibodies in patients with hematological diseases

    OpenAIRE

    N. V. Mineeva; S. V. Gavrovskaya; I. I. Krobinets; I. A. Pashkova; N. N. Bodrova; E. A. Sysoeva

    2013-01-01

    History of multiple transfusions in patients with hematological diseases increases the likelihood of immunization to donor blood cells antigensand immunological complications development. Incidence of alloantibodies development in this patients was assessed in this work. Alloantibodies detection was performed in patients with aplastic anemia, acute leukemia, chronic lymphocytic leukemia, and autoimmune thrombocytopenia. 9696 patients were included in this study. Frequency of alloantibodies to...

  7. The Effectiveness of self management program on quality of life in patients with sickle cell disease

    OpenAIRE

    Ahmadi, M; Jahani, S; Poormansouri, S; Shariati, A. (MSc); Tabesh, H.

    2015-01-01

    Background Sickle cell patients suffer from many physical, psychological, and social problems that can affect their quality of life. To deal with this chronic condition and manage their disease and prevent complications associated with the disease, they must learn skills and behaviours. The aim of this study was to determine the effectiveness of self-management programs on quality of life in these patients. Material and Methods Samples of this quasi-experimental study, which included 69 patie...

  8. Lactate dehydrogenase as a biomarker for early renal damage in patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Mohammad S Alzahri

    2015-01-01

    Full Text Available Among many complications of sickle cell disease, renal failure is the main contributor to early mortality. It is present in up to 21% of patients with sickle cell disease. Although screening for microalbuminuria and proteinuria is the current acceptable practice to detect and follow renal damage in patients with sickle cell disease, there is a crucial need for other, more sensitive biomarkers. This becomes especially true knowing that those biomarkers start to appear only after more than 60% of the kidney function is lost. The primary purpose of this study is to determine whether lactate dehydrogenase (LDH correlates with other, direct and indirect bio-markers of renal insufficiency in patients with sickle cell disease and, therefore, could be used as a biomarker for early renal damage in patients with sickle cell disease. Fifty-five patients with an established diagnosis of sickle cell disease were recruited to in the study. Blood samples were taken and 24-h urine collection samples were collected. Using Statcrunch, a data analysis tool available on the web, we studied the correlation between LDH and other biomarkers of kidney function as well as the distribution and relationship between the variables. Regression analysis showed a significant negative correlation between serum LDH and creatinine clearance, R (correlation coefficient = -0.44, P = 0.0008. This correlation was more significant at younger age. This study shows that in sickle cell patients LDH correlates with creatinine clearance and, therefore, LDH could serve as a biomarker to predict renal insufficiency in those patients.

  9. Decrease in Circulating Dendritic Cell Precursors in Patients with Peripheral Artery Disease

    OpenAIRE

    Daniel Kretzschmar; Ilonka Rohm; Sebastian Schäller; Stefan Betge; Rudin Pistulli; Yevgeniya Atiskova; Hans-R. Figulla; Atilla Yilmaz

    2015-01-01

    Peripheral artery disease (PAD) is a common manifestation of atherosclerosis. Inflammation is important for initiation and progression of the disease. Dendritic cells (DCs) as antigen-presenting cells play an important role in the immune system. Therefore, we hypothesize that, in patients with PAD, DCPs might be reduced in blood due to their recruitment into the vascular wall and induce a proinflammatory response. The numbers of myeloid DCPs, plasmacytoid DCPs, and total DCPs were analyzed by...

  10. Peripheral Blood Mononuclear Cell Membrane Fluidity and Disease Outcome in Patients with Multiple Sclerosis

    OpenAIRE

    Gloudina M Hon; Hassan, Mogamat S.; van Rensburg, Susan J.; Abel, Stefan; Erasmus, Rajiv T; Matsha, Tandi

    2011-01-01

    Immune cell membrane lipids are important determinants of membrane fluidity, eicosanoid production and phagocytosis and fatty acid metabolic abnormalities have been reported in immune cells from patients with multiple sclerosis. The aim of this study was to investigate the relationship between peripheral blood mononuclear cell membrane fluidity, permeability status, and disease outcome as measured by the Kurtzke expanded disability status scale. Phospholipids, fatty acids and cholesterol comp...

  11. Nursing Diagnoses and Caring for Patients with Sickle Cell Disease.

    Science.gov (United States)

    London, Fran

    1990-01-01

    This continuing education article is designed to teach nurses to describe sickle cell anemia, identify complications, specify signs and symptoms, and describe nursing interventions. It concludes with a multiple-choice test. (SK)

  12. EXPRESSION OF T CELL RECEPTOR Vα GENE FAMILIES IN INTRATHYROIDAL T CELLS OF CHINESE PATIENTS WITH GRAVES' DISEASE

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective. Patients with Graves' disease (GD) have marked lymphocytic infiltration in their thyroid glands. We examined the gene for the variable regions of the α-chain of the Chinese T-cell receptor( Vα gene) in intrathyroidal Tcells to determine the role of T cells in the pathogenesis of GD and offer potential for the development of immunothera-peutic remedies for GD. Methods. We used the reverse transcription and polymerase chain reaction(RT-PCR) to amplify complementary DNA(cDNA) for the 18 known families of the Vα gene in intrathyroidal T cells from 5 patients with Graves' disease.The findings were compared with the results of peripheral blood T cells in the same patients as well as those in normalsubjects. Results. We found that marked restriction in the expression of T cell receptor Vα genes by T cells from the thyroidtissue of Chinese patients with GD(P < 0.001). An average of only 4.6 ± 1.52 of the 18 Vα genes were expressed insuch samples, as compared with 10.4 ± 2.30Vα genes expressed in peripheral blood T cells from the same patients.The pattem of expressed Vα genes differed from patient to patient with no clear predominance. Condusions. Expression of intrathyroidal T cell receptor Vα genes in GD is highly restricted suggesting the prima-cy of T cells in causing the disorders.

  13. Constitutive STAT3 activation in intestinal T cells from patients with Crohn's disease

    DEFF Research Database (Denmark)

    Lovato, Paola; Brender, Christine; Agnholt, Jørgen;

    2003-01-01

    Via cytoplasmic signal transduction pathways, cytokines induce a variety of biological responses and modulate the outcome of inflammatory diseases and malignancies. Crohn's disease is a chronic inflammatory bowel disease of unknown etiology. Perturbation of the intestinal cytokine homeostasis is...... believed to play a pivotal role, but the pathogenesis of Crohn's disease is not fully understood. Here, we study intestinal T cells from Crohn's disease and healthy volunteers. We show that STAT3 and STAT4 are constitutively activated in Crohn's patients but not in healthy volunteers. The activation is...... specific, because other STAT proteins are not constitutively activated. Furthermore, the STAT3 regulated protein, SOCS3, is also constitutively expressed in Crohn's patients but not in healthy volunteers. Taken together, these data provide evidence of abnormal STAT/SOCS signaling in Crohn's disease. This...

  14. Nonblack patients with sickle cell disease have African. beta. sup s gene cluster haplotypes

    Energy Technology Data Exchange (ETDEWEB)

    Rogers, Z.R.; Powars, D.R.; Williams, W.D. (Univ. of Southern California School of Medicine, Los Angeles (USA)); Kinney, T.R. (Duke Univ., Durham, NC (USA)); Schroeder, W.A. (California Institute of Technology, Pasadena (USA))

    1989-05-26

    Of 18 nonblack patients with sickle cell disease, 14 had sickle cell anemia, 2 had hemoglobin SC disease, and 2 had hemoglobin S-{beta}{sup o}-thalassemia. The {beta}{sup s} gene cluster haplotypes that were determined in 7 patients were of African origin and were identified as Central African Republic, Central African Republic minor II, Benin, and Senegal. The haplotype Central African Republic minor II was present on the {beta}{sup o}-thalassemia chromosome in 2 patients. None of 10 patients whose {alpha}-gene status was determined had {alpha}-thalassemia-2. These data strongly support the concept that the {beta}{sup s} gene on chromosome 11 of these individuals is of African origin and that the {alpha}-gene locus on chromosome 16 is of white or native American origin. The clinical severity of the disease in these nonblack patients is appropriate to their haplotype without {alpha}-thalassemia-2 and is comparable with that of black patients. All persons with congenital hemolytic anemia should be examined for the presence of sickle cell disease regardless of physical appearance or ethnic background.

  15. Low-dose cyclophosphamide effectively mobilizes peripheral blood stem cells in patients with autoimmune disease.

    Science.gov (United States)

    Blank, Norbert; Lisenko, Katharina; Pavel, Petra; Bruckner, Thomas; Ho, Anthony D; Wuchter, Patrick

    2016-07-01

    For patients with severe and refractory autoimmune diseases, high-dose chemotherapy and autologous hematopoietic stem cell transplantation has been established as a considerable therapeutic option in recent years. In this retrospective single-center analysis, we assessed the feasibility and efficacy of peripheral blood stem cells (PBSC) mobilization and collection in 35 patients with refractory autoimmune disease (AID). The mobilization data of 15 patients with systemic sclerosis (SSc), 11 patients with multiple sclerosis (MS), and 9 patients with other AID were analyzed. Stem cell mobilization with cyclophosphamide chemotherapy 2 × 2 g/m(2) (n = 16) or 1 × 2 g/m(2) (n = 17) and G-CSF followed by PBSC collection was performed between 1999 and 2015. Leukapheresis was performed in 16 inpatients and 19 outpatients. All patients reached their collection goal and no collection failures were observed. The median PBSC collection result was 12.2 (SSc), 8.0 (MS), and 8.2 (other AID) × 10(6) CD34+ cells/kg, respectively. Twenty-five of 35 (71%) patients achieved a sufficient collection with one leukapheresis session, while 6 patients (17%) required two and 4 patients (11%) required three or more leukapheresis sessions. No correlation of the collected PBSC number was observed regarding age, body weight, diagnosis, disease duration, skin sclerosis, or previous cyclophosphamide. Mobilization chemotherapy with cyclophosphamide 2 × 2 g/m(2) and 1 × 2 g/m(2) delivered comparable mobilization results with leukapheresis on day 13 or 14. In summary, we demonstrate that PBSC collection is safe and feasible in patients with AID. Mobilization chemotherapy with cyclophosphamide 1 × 2 g/m(2) and 2 × 2 g/m(2) is equally effective in those patients. PMID:26381040

  16. Management of Patients with Sickle Cell Disease Using Transfusion Therapy: Guidelines and Complications.

    Science.gov (United States)

    Chou, Stella T; Fasano, Ross M

    2016-06-01

    Red blood cell (RBC) transfusion therapy is a key component of comprehensive management of patients with sickle cell disease (SCD) and has increased over time as a means of primary and secondary stroke prevention. RBC transfusions also prove to be lifesaving for many acute sickle cell-related complications. Although episodic and chronic transfusion therapy has significantly improved the morbidity and mortality of patients with SCD, transfusions are not without adverse effects. This review addresses RBC transfusion methods, evidence-based and/or expert panel-based consensus on indications for chronic and episodic transfusion indications, and strategies to prevent and manage transfusion-related complications. PMID:27112998

  17. Endothelial cell markers reflecting endothelial cell dysfunction in patients with mixed connective tissue disease

    OpenAIRE

    Soltész Pál (1961-) (belgyógyász, kardiológus); Bereczki Dániel (1960-) (neurológus); Szodoray Péter (1973-) (belgyógyász, orvos); Magyar Mária Tünde (1970-) (neurológus); Dér Henrietta (1977-) (orvos); Csípő István (1953-) (vegyész); Hajas Ágota Helga (1985-) (orvos); Paragh György (1953-) (belgyógyász, kardiológus, endokrinológus, lipidológus, sürgősségi orvostani szakorvos, belgyógyászati angiológiai minősített orvos); Szegedi Gyula (1936-2013) (belgyógyász, immunológus); Bodolay Edit (1950-) (belgyógyász, allergológus és klinikai immunológus)

    2010-01-01

    Introduction The aim of the present study was to investigate the association between cardiovascular risk factors and endothelial dysfunction in patients with mixed connective tissue disease (MCTD) and to determine which biomarkers are associated with atherosclerotic complications, such as cardiovascular disease. Methods Fifty MCTD patients and 38 healthy age-matched and sex-matched controls were enrolled in this study. In order to describe endothelial dysfunction, we assessed flow-mediated di...

  18. Histamine release from gut mast cells from patients with inflammatory bowel diseases

    DEFF Research Database (Denmark)

    Nolte, Hendrik; Spjeldnæs, Nikolaj; Kruse, Aksel; Nielsen, Bent Windelborg

    1990-01-01

    macroscopically inflamed and normal tissue. Mast cells and corresponding basophils were challenged with anti-IgE, anti-IgG, subclass anti-IgG4, and formyl-methionyl-leucyl-phenylalanine (FMLP) and results were compared with those from nine patient control subjects. The mast cell count in patients with ulcerative...... histamine per sample at anti-IgG4 challenge; however, the corresponding basophils did not respond to anti-IgG4. In addition, the anti-IgG4 mediated histamine release was primarily confined to patients with inflammatory bowel disease. This study substantiates previous histopathological findings that mast...... cells may play a functional role in the inflammatory process of inflammatory bowel diseases and provides evidence for a possible role of subclass IgG4 as a reaginic antibody....

  19. Beta-adrenoceptor antagonists enhance white blood cell aggregation in patients with ischaemic heart disease.

    OpenAIRE

    Bridges, A B; Pringle, T. H.; McNeill, G P; Tavendale, R; Belch, J J

    1992-01-01

    The effects of beta-adrenoceptor antagonists, calcium channel blockers and long acting nitrates on white blood cell (WBC) aggregation were studied in patients with ischaemic heart disease. WBC aggregation was significantly increased by beta-adrenoceptor antagonists (P = 0.011) but was unaffected by either calcium channel blockers or long acting nitrates. Enhanced WBC aggregation promotes microvascular occlusion and damage.

  20. Decreased circulating endothelial progenitor cell levels and function in patients with nonalcoholic fatty liver disease.

    Directory of Open Access Journals (Sweden)

    Chia-Hung Chiang

    Full Text Available OBJECTIVES: Nonalcoholic fatty liver disease (NAFLD is associated with advanced atherosclerosis and a higher risk of cardiovascular disease. Increasing evidence suggests that injured endothelial monolayer is regenerated by circulating bone marrow derived-endothelial progenitor cells (EPCs, and levels of circulating EPCs reflect vascular repair capacity. However, the relation between NAFLD and EPC remains unclear. Here, we tested the hypothesis that patients with nonalcoholic fatty liver disease (NAFLD might have decreased endothelial progenitor cell (EPC levels and attenuated EPC function. METHODS AND RESULTS: A total of 312 consecutive patients undergoing elective coronary angiography because of suspected coronary artery disease were screened and received examinations of abdominal ultrasonography between July 2009 and November 2010. Finally, 34 patients with an ultrasonographic diagnosis of NAFLD, and 68 age- and sex-matched controls without NAFLD were enrolled. Flow cytometry with quantification of EPC markers (defined as CD34(+, CD34(+KDR(+, and CD34(+KDR(+CD133(+ in peripheral blood samples was used to assess circulating EPC numbers. The adhesive function, and migration, and tube formation capacities of EPCs were also determined in NAFLD patients and controls. Patients with NAFLD had a significantly higher incidence of metabolic syndrome, previous myocardial infarction, hyperuricemia, and higher waist circumference, body mass index, fasting glucose and triglyceride levels. In addition, patients with NAFLD had significantly decreased circulating EPC levels (all P<0.05, attenuated EPC functions, and enhanced systemic inflammation compared to controls. Multivariate logistic regression analysis showed that circulating EPC level (CD34(+KDR(+ [cells/10(5 events] was an independent reverse predictor of NAFLD (Odds ratio: 0.78; 95% confidence interval: 0.69-0.89, P<0.001. CONCLUSIONS: NAFLD patients have decreased circulating EPC numbers and

  1. Anesthetic management of a patient with sickle cell disease for common bile duct exploration

    Directory of Open Access Journals (Sweden)

    Sarika Subhash Ingle

    2011-01-01

    Full Text Available Patients with sickle cell disease (SCD may present to the anesthetist in different clinical settings like perioperative care, management of acute painful crisis and intensive therapy for acute respiratory failure. We describe the successful management of a 34-year-old female patient with SCD, posted for cholecystectomy with common bile duct exploration under general and epidural anesthesia. The importance of preoperative stabilization and careful anesthetic strategy is emphasized.

  2. Cytogenetic alterations in peripheral cells of Alzheimer’s disease patients

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    Plećaš-Solarović Bosiljka

    2014-01-01

    Full Text Available Alzheimer’s disease (AD is the most frequent progressive neurodegenerative disorder in elderly associated with irreversible cognitive impairment and dementia. The vast majority of AD patients are sporadic (SAD in which the disease develops after age of 65. Despite of century of research, we lack understanding of the SAD etiology and pathogenesis. Several hypotheses try to explain the main causes of brain degeneration in SAD, one of them assuming that genomic instability and the reentry of certain neurons into the incomplete cell cycle may be the pathogenic basis of the disease. Although the brain is the most affected organ in AD, numerous studies showed structural and functional alterations in peripheral tissues, suggesting that AD is a generalized systemic disorder. Diverse changes in peripheral cells from AD patients are described in literature including cell cycle aberration and chromosome instability, alterations in cell viability, proliferation and apoptosis, oxidative metabolism, amyloid precursor protein and amyloid β protein metabolism, and other cellular processes. The aim of this paper was to summarize and review the results of our investigations and the growing literature data concerning the multiple chromosomal alterations in peripheral cells of AD patients and to consider their possible role in the disease pathogenesis as well as the importance of such investigations. [Projekat Ministarstva nauke Republike Srbije, br. 173034

  3. Littoral Cell Angioma in a Patient with Crohn’s Disease

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    Joel Johansson

    2015-01-01

    Full Text Available Littoral cell angioma is a rare vascular tumor of the spleen. The pathogenesis is unknown but the lesion is associated with several malignancies and immunological disorders. The diagnosis requires histopathological examination. The malignant potential of this lesion is unknown, which is why splenectomy is recommend for all cases. Symptomatic cases generally suffer from hypersplenism and pyrexia. A previously healthy 20-year-old female was diagnosed with colonic Crohn’s disease; as part of the work-up a magnetic resonance enterography was performed which showed multiple signal changes of the spleen. The patient reported chronic abdominal pain in the left upper quadrant, malaise, and fever. The unknown splenic lesions prompted a laparoscopic splenectomy; pathology revealed a littoral cell angioma. The abdominal pain and malaise remitted but the fever persisted one year despite adequate treatment of the patient’s Crohn’s disease. Littoral cell angioma is associated with immune-dysregulation including Crohn’s disease with several reported cases. Signs and symptoms of hypersplenism and splenic lesions on imaging should raise suspicion of littoral cell angioma in patients with Crohn’s disease. Magnetic resonance enterography to assess disease severity in Crohn’s disease may provide an opportunity to study the prevalence and natural history of this rare splenic tumor.

  4. Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease

    Science.gov (United States)

    Chrysostomou, Alexia; Grady, John P.; Laude, Alex; Taylor, Robert W.; Turnbull, Doug M.

    2015-01-01

    Aims Cerebellar ataxia is common in patients with mitochondrial disease, and despite previous neuropathological investigations demonstrating vulnerability of the olivocerebellar pathway in patients with mitochondrial disease, the exact neurodegenerative mechanisms are still not clear. We use quantitative quadruple immunofluorescence to enable precise quantification of mitochondrial respiratory chain protein expression in Purkinje cell bodies and their synaptic terminals in the dentate nucleus. Methods We investigated NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 protein expression in 12 clinically and genetically defined patients with mitochondrial disease and ataxia and 10 age‐matched controls. Molecular genetic analysis was performed to determine heteroplasmy levels of mutated mitochondrial DNA in Purkinje cell bodies and inhibitory synapses. Results Our data reveal that complex I deficiency is present in both Purkinje cell bodies and their inhibitory synapses which surround dentate nucleus neurons. Inhibitory synapses are fewer and enlarged in patients which could represent a compensatory mechanism. Mitochondrial DNA heteroplasmy demonstrated similarly high levels of mutated mitochondrial DNA in cell bodies and synapses. Conclusions This is the first study to use a validated quantitative immunofluorescence technique to determine complex I expression in neurons and presynaptic terminals, evaluating the distribution of respiratory chain deficiencies and assessing the degree of morphological abnormalities affecting synapses. Respiratory chain deficiencies detected in Purkinje cell bodies and their synapses and structural synaptic changes are likely to contribute to altered cerebellar circuitry and progression of ataxia. PMID:26337858

  5. Pain measurement as part of primary healthcare of adult patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Andreza Aparecida Felix Signorelli

    2013-01-01

    Full Text Available OBJECTIVE: The aim of this exploratory, cross-sectional study was to evaluate pain in sickle cell disease patients and aspects related to primary healthcare. METHODS: Data were obtained through home interviews. The assessment instruments (body diagram, Numerical Pain Scale, McGill Pain Questionnaire collected information on the underlying disease and on pain. Data were analyzed using the Statistical Package for Social Sciences program for Windows. Associations between the subgroups of sickle cell disease patients (hemoglobin SS, hemoglobin SC, sickle β-thalassemia and others and pain were analyzed using contingency tables and non-parametric tests of association (classic chi-square, Fisher's and Kruskal-Wallis with a level of 5% (p-value < 0.05 being set for the rejection of the null hypothesis. RESULTS: Forty-seven over 18-year-old patients with sickle cell disease were evaluated. Most were black (78.7% and female (59.6% and the mean age was 30.1 years. The average number of bouts of pain annually was 7.02; pain was predominantly reported by individuals with sickle cell anemia (hemoglobin SS. The intensity of pain (Numeric Pain Scale was 5.5 and the quantitative index (McGill was 35.9. This study also shows that patients presented a high frequency of moderately painful crises in their own homes. CONCLUSION: According to these facts, it is essential that pain related to sickle cell disease is properly identified, quantified, characterized and treated at the three levels of healthcare. In primary healthcare, accurate measurement of pain combined with better care may decrease acute painful episodes and consequently minimize tissue damage, thus improving the patient's overall health.

  6. Regulatory B and T cell responses in patients with autoimmune thyroid disease and healthy controls.

    Science.gov (United States)

    Kristensen, Birte

    2016-02-01

    Autoimmune diseases occur due to faulty self-tolerance. Graves' disease (GD) and Hashimoto's thyroiditis (HT) are classic examples of organ-specific autoimmune diseases. GD is an auto-antibody-mediated disease where autoantibodies are produced against the thyroid stimulating hormone receptor (TSHR). HT is primarily a T-cell mediated disease, and whether B cells play a pathogenic role in the pathogenesis is still unclear. Both GD and HT are characterized by infiltration of the thyroid gland by self-reactive T cells and B cells. In the first paper of this thesis, the role of regulatory B cells (Bregs) and regulatory T cells (Tregs) were investigated in the context of GD and HT. First, we studied the role of the thyroid self-antigen, thyroglobulin (TG) in healthy donors. The self-antigen TG, but not the foreign recall antigen tetanus toxoid (TT), was able to induce interleukin 10 (IL-10) secretion by B cells and CD4+ T cells. These IL-10 producing B cells (B10 cells) from healthy donors were enriched with the CD5+ and CD24hi phenotype. In addition, TG was able to induce IL-6 production by B cells. In contrast, TT induced production of Th1-type pro-inflammatory cytokines including interferon-gamma (IFN-γ) and IL-2. In the second paper, the frequency and phenotype of B10 was investigated in healthy donors and patients with GD or HT.  The frequencies of B10 cells were similar in the three groups, irrespective of whether IL-10 was induced by a combination of phorbol 12-myristate 13-acetate (PMA) and ionomycin, by CpG oligodeoxynucletodies (ODN) 2006, or by TG. Several phenotypes have been associated with B10 cells such as CD5+, CD25+, TIM-1+, CD24hiCD38hi and CD27+CD43+. We found that larger proportions of B10 cells in patients with GD or HT were CD25+ and TIM-1+ than B10 cells in healthy donors. In healthy donors, B10 cells were CD24hiCD38-, whereas for HT patients these cells were primarily CD24intCD38int. For GD patients, we found lower proportions of B10 cells

  7. Interleukin 8 as a vaso-occlusive marker in Brazilian patients with sickle cell disease.

    Science.gov (United States)

    Gonçalves, M S; Queiroz, I L; Cardoso, S A; Zanetti, A; Strapazoni, A C; Adorno, E; Albuquerque, A; Sant'Ana, A; dos Reis, M G; Barral, A; Barral Netto, M

    2001-10-01

    Sickle cell disease has a worldwide distribution and is a public health problem in Brazil. Although vaso-occlusive crisis (VOC) is one of the most important clinical features of the disease, there are still several steps of its pathogenesis which are unknown. The increase of the chemotactic factor interleukin 8 (IL-8) has been reported to be involved in sickle cell disease crisis, but this has not been demonstrated conclusively. In the present study we analyzed serum IL-8 levels by ELISA and hematological parameters and hemoglobin patterns by standard techniques in 23 (21 SS and 2 SC) Brazilian patients with sickle cell syndromes during VOC caused by different inducing factors, 22 (21 SS and 1 SC) sickle cell patients out of crisis, and 11 healthy controls. Increased IL-8 levels were observed in 19 of 23 VOC patients (79.2%), 3 of them with more than 1,000 pg/ml. Seventeen of 22 (77.3%) non-crisis patients showed low IL-8 levels (less than 15 pg/ml). Healthy controls had low IL-8 levels. A significant difference in serum IL-8 levels was observed between crisis and non-crisis sickle cell patients (P<0.0001). There was no correlation between IL-8 levels and hematological data or hemoglobin patterns. High serum IL-8 levels were observed in VOC patients independently of the crisis-inducing factor. We conclude that in the studied population, IL-8 concentration may be a useful VOC marker, although the mechanism of the pathogenic process of sickle cell VOC syndromes remains unclear. PMID:11593306

  8. Comparison of mesenchymal stromal cells from young healthy donors and patients with severe chronic coronary artery disease

    DEFF Research Database (Denmark)

    Friis, Tina; Haack-Sørensen, Mandana; Hansen, Susanne Kofoed;

    2011-01-01

    It has been questioned whether bone marrow-derived mesenchymal stromal cells (MSCs) from patients with ischemic heart disease are suitable for use in regenerative stem cell therapy. We compared MSCs from patients with chronic coronary artery disease (CAD) and MSCs from young healthy donors with r...

  9. Kidney dysfunction and beta S-haplotypes in patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Lilianne Brito da Silva Rocha

    2013-06-01

    Full Text Available Objective: To investigate the association between kidney dysfunction and haplotypes in sickle cell disease. Methods: A cohort of 84 sickle cell disease patients, treated in a public health service in Fortaleza, Brazil, was studied. Hemoglobin S haplotypes were obtained from 57 patients as they had recently received blood transfusions with 18 of them agreeing to undertake urinary concentrating ability and acidification tests. The glomerular filtration rate was estimated using the Modification of Diet in Renal Disease Study equation. Urinary concentration was evaluated utilizing the urinary and serum osmolality ratio (U/Posm after 12 hours of water deprivation. Urinary acidification was evaluated by measuring the urinary pH before and after the administration of oral CaCl2. The analysis of the haplotypes of the beta S gene cluster was carried out by polymerase chain reaction-restriction fragment length polymorphism. The analysis of variance (ANOVA test was used for multiple comparisons of means and the Newman-Keuls test was used to identify which groups were significantly different. Results: The mean age of the patients was 33 ± 13 years with 64.2% being females. The glomerular filtration rate was normal in 25 cases (30% and a rate > 120 mL/min was seen in 52 cases (62%. Urinary concentration deficit was found in all patients who underwent the test and urinary acidification in 22%. There was no significant difference when comparing patients with the Bantu/Bantu and Benin/Benin haplotypes. On comparing patients with the Central African Republic-haplotype however, a higher number had glomerular filtration rates between 60 and 120 mL/min. Conclusion: There was no significant difference among sickle cell disease patients regarding the haplotypes and kidney dysfunction.

  10. Decrease in Circulating Dendritic Cell Precursors in Patients with Peripheral Artery Disease

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    Daniel Kretzschmar

    2015-01-01

    Full Text Available Peripheral artery disease (PAD is a common manifestation of atherosclerosis. Inflammation is important for initiation and progression of the disease. Dendritic cells (DCs as antigen-presenting cells play an important role in the immune system. Therefore, we hypothesize that, in patients with PAD, DCPs might be reduced in blood due to their recruitment into the vascular wall and induce a proinflammatory response. The numbers of myeloid DCPs, plasmacytoid DCPs, and total DCPs were analyzed by flow cytometry in blood of patients with PAD (n=52 compared to controls (n=60. Femoralis plaques (n=12 of patients who underwent surgery were immunostained for CD209 and CD83 (mDCs as well as CD304, CD123 (pDCs, and HLA-DR. In patients with PAD, a significant decrease in mDCPs, pDCPs, and tDCPs was observed. In immunostaining, markers indicative for mDCs (CD209: 16 versus 8 cells/0.1 mm2, P=0.02; CD83: 19 versus 5 cells/0.1 mm2, P=0.03 were significantly elevated in femoralis plaques compared to control vessels. We show for the first time that mDCPs, pDCPs, and tDCPs are significantly reduced in patients with PAD. Immunohistochemical analysis unraveled that the decrease in DCPs might be due to their recruitment into atherosclerotic plaques.

  11. Generation and characterization of integration-free induced pluripotent stem cells from patients with autoimmune disease

    Science.gov (United States)

    Son, Mi-Young; Lee, Mi-Ok; Jeon, Hyejin; Seol, Binna; Kim, Jung Hwa; Chang, Jae-Suk; Cho, Yee Sook

    2016-01-01

    Autoimmune diseases (AIDs), a heterogeneous group of immune-mediated disorders, are a major and growing health problem. Although AIDs are currently treated primarily with anti-inflammatory and immunosuppressive drugs, the use of stem cell transplantation in patients with AIDs is becoming increasingly common. However, stem cell transplantation therapy has limitations, including a shortage of available stem cells and immune rejection of cells from nonautologous sources. Induced pluripotent stem cell (iPSC) technology, which allows the generation of patient-specific pluripotent stem cells, could offer an alternative source for clinical applications of stem cell therapies in AID patients. We used nonintegrating oriP/EBNA-1-based episomal vectors to reprogram dermal fibroblasts from patients with AIDs such as ankylosing spondylitis (AS), Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE). The pluripotency and multilineage differentiation capacity of each patient-specific iPSC line was validated. The safety of these iPSCs for use in stem cell transplantation is indicated by the fact that all AID-specific iPSCs are integrated transgene free. Finally, all AID-specific iPSCs derived in this study could be differentiated into cells of hematopoietic and mesenchymal lineages in vitro as shown by flow cytometric analysis and induction of terminal differentiation potential. Our results demonstrate the successful generation of integration-free iPSCs from patients with AS, SS and SLE. These findings support the possibility of using iPSC technology in autologous and allogeneic cell replacement therapy for various AIDs, including AS, SS and SLE. PMID:27174201

  12. Mycobacterium avium Complex Infection in a Patient with Sickle Cell Disease and Severe Iron Overload

    Directory of Open Access Journals (Sweden)

    Kamal Shemisa

    2014-01-01

    Full Text Available A 34-year-old female with sickle cell anemia (hemoglobin SS disease and severe iron overload presented to our institution with the subacute presentation of recurrent pain crisis, fever of unknown origin, pancytopenia, and weight loss. A CT scan demonstrated both lung and liver nodules concerning for granulomatous disease. Subsequent biopsies of the liver and bone marrow confirmed the presence of noncaseating granulomas and blood cultures isolated Mycobacterium avium complex MAC. Disseminated MAC is considered an opportunistic infection typically diagnosed in the immunocompromised and rarely in immunocompetent patients. An appreciable number of mycobacterial infection cases have been reported in sickle cell disease patients without immune dysfunction. It has been reported that iron overload is known to increase the risk for mycobacterial infection in vitro and in vivo studies. While iron overload is primarily known to cause end organ dysfunction, the clinical relationship with sickle cell disease and disseminated MAC infection has not been reported. Clinical iron overload is a common condition diagnosed in the sub-Saharan African population. High dietary iron, genetic defects in iron trafficking, as well as hemoglobinopathy are believed to be the etiologies for iron overload in this region. Patients with iron overload in this region were 17-fold more likely to die from Mycobacterium tuberculosis. Both experimental and clinical evidence suggest a possible link to iron overload and mycobacterial infections; however larger observational studies are necessary to determine true causality.

  13. Treatment with adipose stem cells in a patient with moderate Alzheimer's disease: case report

    Directory of Open Access Journals (Sweden)

    Tsolaki M

    2015-10-01

    Full Text Available Magda Tsolaki,1,2 Stelios Zygouris,1,3 Vassilis Tsoutsikas,2 Doxakis Anestakis,2,4,5 George Koliakos6,7 1Third Department of Neurology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece; 2Greek Association of Alzheimer's Disease and Related Disorders, Thessaloniki, Greece; 3CND+, 4Laboratory of Forensic Medicine and Toxicology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece; 5Laboratory of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece; 6Biohellenika Stem Cells Bank, Thessaloniki, Greece; 7Department of Biological Chemistry, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece Objective: This article presents the case of a female patient with Alzheimer's disease (AD. The patient was treated with cholinesterase inhibitors and also with intravenous administration of autologous adipose stem cells.Methods: The patient was assessed with a neuropsychological battery including measures of general cognition, functional problems, neuropsychiatric issues, memory (verbal, visual and episodic, verbal learning and visuospatial abilities. Magnetic resonance imaging (MRI scans were conducted before and after the treatment with stem cells.Results: A transient and mild improvement of scores in measures of general cognition and neuropsychiatric issues was evident. A rapid deterioration followed the initial improvement. The first MRI scan showed ischemic areas in periventricular white matter of both hemispheres, as well as in both temporal and parietal lobes. The second MRI scan revealed the same picture with no significant changes.Conclusion: This case report indicates that the administration of stem cells is feasible in a clinical setting however its effectiveness in the treatment of AD is uncertain. The improvement of the patient's condition highlights the potential therapeutic action of stem cells, however the rapid deterioration poses

  14. Nerve cell loss in the thalamic centromedian-parafascicular complex in patients with Huntington's disease.

    Science.gov (United States)

    Heinsen, H; Rüb, U; Gangnus, D; Jungkunz, G; Bauer, M; Ulmar, G; Bethke, B; Schüler, M; Böcker, F; Eisenmenger, W; Götz, M; Strik, M

    1996-01-01

    The centromedian-parafascicular complex represents a nodal point in the neuronal loop comprising striatum--globulus pallidus--thalamus--striatum. Striatal neurone degeneration is a hallmark in Huntington's disease and we were interested in estimating total neurone and glial number in this thalamic nuclear complex. Serial 500-microns-thick gallocyanin-stained frontal sections of the left hemisphere from six cases of Huntington's disease patients (three females, three males) and six age- and sex-matched controls were investigated applying Cavalieri's principle and the optical disector. Mean neurone number in the controls was 646,952 +/- 129,668 cells versus 291,763 +/- 60,122 in Huntington's disease patients (Mann-Whitney U-test, P < 0.001). Total glial cell number (astrocytes, oligodendrocytes, microglia, and unclassifiable glial profiles) was higher in controls with 9,544,191 +/- 3,028,944 versus 6,961,989 +/- 2,241,543 in Huntington's disease patients (Mann-Whitney U-test, P < 0.021). Considerable increase of fibrous astroglia within the centromedian-parafascicular complex could be observed after Gallyas' impregnation. Most probably this cell type enhanced the numerical ratio between glial number and neurone number (glial index: Huntington's disease patients = 24.4 +/- 8.1; controls = 15.0 +/- 5.2; Mann-Whitney U-test, P < 0.013). The neurone number in the centromedian-parafascicular complex correlated negatively, although statistically not significantly, with the striatal neurone number. This lack of correlation between an 80% neuronal loss in the striatum and a 55% neurone loss in the centromedian-parafascicular complex points to viable neuronal circuits connecting the centromedian-parafascicular complex with cortical and subcortical regions that are less affected in Huntington's disease. PMID:8787149

  15. Red blood cell calcium homeostasis in patients with end-stage renal disease

    International Nuclear Information System (INIS)

    Low cell calcium level is essential for preservation of red blood cell (RBC) membrane deformability and survival. RBCs from patients with end-stage renal disease (ESRD) demonstrate reduction in membrane deformability, possibly as a result of increased RBC cellular calcium level. To evaluate calcium homeostasis in RBCs from patients with ESRD, we measured cell calcium level, basal and calmodulin-stimulated calcium-stimulated Mg-dependent ATPase (CaATPase) activity, and calcium 45 efflux were measured before and after hemodialysis. The in vitro effect of uremic plasma and of urea on CaATPase activity of normal RBCs was tested, and 45Ca influx into RBCs of patients undergoing hemodialysis also was determined. A morphologic evaluation of red cells from patients with ESRD was performed with a scanning electron microscope. RBC calcium level in patients (mean +/- SEM 21.2 +/- 2.8 mumol/L of cells; n = 28) was higher than in controls (4.9 +/- 0.3 mumol/L of cells; n = 24; p less than 0.001). Hemodialysis had no effect on cell calcium level. Both basal and calmodulin-stimulated RBC CaATPase activities in patients with ESRD (n = 9) were reduced by approximately 50% (p less than 0.01), but after hemodialysis, enzyme activity returned to normal. 45Ca efflux from calcium-loaded cells, which was 2574.0 +/- 217.0 mumol/L of cells per 0.5 hours before hemodialysis, increased to 3140.7 +/- 206.8 mumol/L of cells per 0.5 hours after hemodialysis (p less than 0.005). In vitro incubation of normal RBCs with uremic plasma depressed CaATPase activity, but incubation with urea had no effect. RBCs of patients with ESRD revealed increased 45Ca influx, 7.63 +/- 1.15 mumol/L of cells per hour versus 4.61 +/- 0.39 mumol/L of cells per hour (p less than 0.025). RBCs of patients revealed a high incidence of spherocytosis and echynocytosis, which correlated with a high cell calcium level (r = 0.894, p less than 0.01)

  16. Renal Cell Protection of Erythropoietin beyond Correcting The Anemia in Chronic Kidney Disease Patients

    OpenAIRE

    Hamid Nasri

    2013-01-01

    Currently many patients with chronic renal failure have profited from the use of erythropoietin to correct anemia (1,2). In chronic kidney disease, anemia is believed to be a surrogate index for tissue hypoxia that continues preexisting renal tissue injury (1-3). Erythropoietin is an essential glycoprotein that accelerates red blood cell maturation from erythroid progenitors and facilitates erythropoiesis. It is a 30.4 kD glycoprotein and class I cytokine containing 165 amino acids (3,4). App...

  17. Pattern and prevelence of alloimmunization in multiply transfused patients with sickle cell disease in Nigeria

    OpenAIRE

    Kangiwa, Umar; Ibegbulam, Obike; Ocheni, Sunday; Madu, Anazoeze; Mohammed, Ndakosu

    2015-01-01

    Background and study objectives Blood transfusion is central in the prevention and treatment of certain chronic complications of sickle cell disease. It is indispensible in correcting anaemias as well as in the practice of exchange blood transfusion. These gains are largely limited by formation of allo-antibodies. Several studies demonstrated varying frequencies of allo-immunization in various patient groups. The effect of the racial differences between the donor and recipient pool, which has...

  18. Long-chain PUFA in Granulocytes, Mononuclear Cells, and RBC in Patients With Cystic Fibrosis: Relation to Liver Disease

    DEFF Research Database (Denmark)

    Jorgensen, Marianne H.; Ott, Peter; Michaelsen, Kim F.;

    2012-01-01

    regulator protein (CFTR)-regulated tissues such as granulocytes, monocytes, and lymphocytes. The aim of the present study was to investigate whether patients with CF-related liver disease have lower n-3 LCPUFA level than patients with CF without liver disease.Methods: Twenty patients with known CF...... liver disease was negatively associated with LCPUFA n-3 levels in CFTR-expressing white blood cells but unrelated to those levels in CFTR-negative RBC....

  19. Endothelin receptor antagonists for pulmonary hypertension in adult patients with sickle cell disease

    OpenAIRE

    Minniti, Caterina P.; Machado, Roberto F.; Coles, Wynona A.; Sachdev, Vandana; Gladwin, Mark T.; Kato, Gregory J.

    2009-01-01

    Pulmonary Hypertension is a serious complication of sickle cell disease (SCD), with a high risk of morbidity and mortality. Endothelin-1, a potent vasoconstrictor peptide known to be elevated in SCD, acts through two receptors: ETR-A and ETR-B. Bosentan and ambrisentan are ETR blockers approved for use in primary pulmonary hypertension. We report on the use of ETR blocking agents in a cohort of 14 high-risk adult patients with SCD and pulmonary hypertension. Patients underwent right heart cat...

  20. Mutagenicity of hydroxyurea in lymphocytes from patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Khayat André Salim

    2004-01-01

    Full Text Available Hydroxyurea is commonly used in the treatment of myeloproliferative diseases and in patients with sickle cell disease (SCD. The use of this antineoplastic agent in patients with SCD is justified because of the drug's ability to increase fetal hemoglobin levels, thereby decreasing the severity of SCD. However, high doses or prolonged treatment with hydroxyurea can be cytotoxic or genotoxic for these patients, with an increased risk of developing acute leukemia. This danger can be avoided by monitoring the lymphocytes of patients treated with hydroxyurea. Cytogenetic tests are important endpoints for monitoring the physiological effects of physical and chemical agents, including drugs. In this work, we assessed the genotoxicity of hydroxyurea in short-term cultures of lymphocytes from SCD patients. Hydroxyurea was not cytotoxic or genotoxic at the concentrations tested in the G2 phase of the cell cycle. These results support the use of hydroxyurea in the treatment of SCD, although further work is necessary to understand the effects of this drug in vivo.

  1. Endothelin receptor antagonists for pulmonary hypertension in adult patients with sickle cell disease.

    Science.gov (United States)

    Minniti, Caterina P; Machado, Roberto F; Coles, Wynona A; Sachdev, Vandana; Gladwin, Mark T; Kato, Gregory J

    2009-12-01

    Pulmonary Hypertension is a serious complication of sickle cell disease (SCD), with high morbidity and mortality. Endothelin (ET)-1, a potent vasoconstrictor elevated in SCD, acts through the ET receptors (ETR), ETR-A and ETR-B. Bosentan and ambrisentan are ETR blockers used in primary pulmonary hypertension. We report on the use of ETR blocking agents in a cohort of 14 high-risk SCD adult patients with pulmonary hypertension. Patients underwent right heart catheterization, 6-min walk test, echocardiogram, physical examination and blood work-up before starting ETR blockers. Eight patients received ETR blockers as initial therapy; six patients were already taking sildenafil. Over more than 6 months of therapy, sequential measurements of 6-min walk distance increased significantly (baseline 357 +/- 22 to 398 +/- 18 m at 5-6 months, P bosentan and ambrisentan in pulmonary hypertension in SCD. PMID:19775299

  2. Morbidity and mortality of sickle cell disease patients starting intermittent haemodialysis: a comparative cohort study with non- Sickle dialysis patients.

    Science.gov (United States)

    Nielsen, Louise; Canouï-Poitrine, Florence; Jais, Jean-Philippe; Dahmane, Djamal; Bartolucci, Pablo; Bentaarit, Bouteina; Gellen-Dautremer, Justine; Remy, Philippe; Kofman, Tomek; Matignon, Marie; Suberbielle, Caroline; Jacquelinet, Christian; Wagner-Ballon, Orianne; Sahali, Dil; Lang, Philippe; Damy, Thibaud; Galactéros, Frédéric; Grimbert, Philippe; Habibi, Anoosha; Audard, Vincent

    2016-07-01

    We performed a retrospective study to assess the changes in clinical, biological and heart echocardiographic parameters in 32 sickle cell disease (SCD) patients beginning haemodialysis. Acute SCD-related complications were similar at 6 months before and 6 months after the initiation of haemodialysis. Median haemoglobin level did not change significantly, but the need for blood transfusions increased (P < 0·001). The 5-year incidence of death was higher in SCD patients (P < 0·0001). The 5-year likelihood of receiving a renal graft was lower in SCD patients (P = 0·022). Our findings suggest that SCD patients have poorer survival and a lower likelihood of receiving a renal graft. PMID:26992059

  3. Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India.

    Science.gov (United States)

    Nishank, Sudhansu Sekhar; Singh, Mendi Prema Shyam Sunder; Yadav, Rajiv; Gupta, Rasik Bihari; Gadge, Vijay Sadashiv; Gwal, Anil

    2013-12-01

    Patients with sickle cell disease (SCD) produce significantly low levels of plasma nitric oxide (NO) during acute vaso-occlusive crisis. In transgenic sickle cell mice, NO synthesized by endothelial nitric oxide synthase (eNOS) enzyme of vascular endothelial cells has been found to protect the mice from vaso-occlusive events. Therefore, the present study aims to explore possible association of eNOS gene polymorphism as a potential genetic modifier in SCD patients. A case control study involving 150 SCD patients and age- and ethnicity-matched 150 healthy controls were genotyped by PCR-restriction fragment length polymorphism techniques for three important eNOS gene polymorphisms-eNOS 4a/b, eNOS 894G>T and eNOS -786T>C. It was observed that SCD patients had significantly higher frequencies of mutant alleles besides heterozygous and homozygous mutant genotypes of these three eNOS gene polymorphisms and low levels of plasma nitrite (NO2) as compared with control groups. The SCD severe group had significantly lower levels of plasma NO2 and higher frequencies of mutant alleles of these three SNPs of eNOS gene in contrast to the SCD mild group of patients. Haplotype analysis revealed that frequencies of one mutant haplotype '4a-T-C' (alleles in order of eNOS 4a/b, eNOS 894G>T and eNOS -786T>C) were significantly high in the severe SCD patients (Phaplotype '4b-G-T' was found to be significantly high (P<0.0001) in the SCD mild patients, which indicates that eNOS gene polymorphisms are associated with SCD patients in India and may act as a genetic modifier of the phenotypic variation of SCD patients. PMID:24088668

  4. Mitochondrial Alterations in Peripheral Mononuclear Blood Cells from Alzheimer's Disease and Mild Cognitive Impairment Patients.

    Science.gov (United States)

    Delbarba, A; Abate, G; Prandelli, C; Marziano, M; Buizza, L; Arce Varas, N; Novelli, A; Cuetos, F; Martinez, C; Lanni, C; Memo, M; Uberti, D

    2016-01-01

    It is well recognized that mitochondrial dysfunction contributes to neurodegeneration occurring in Alzheimer's disease (AD). However, evidences of mitochondrial defects in AD peripheral cells are still inconclusive. Here, some mitochondrial-encoded and nuclear-encoded proteins, involved in maintaining the correct mitochondria machine, were investigated in terms of protein expression and enzymatic activity in peripheral blood mononuclear cells (PBMCs) isolated from AD and Mild Cognitive Impairment (MCI) patients and healthy subjects. In addition mitochondrial DNA copy number was measured by real time PCR. We found some differences and some similarities between AD and MCI patients when compared with healthy subjects. For example, cytochrome C and cytochrome B were decreased in AD, while MCI showed only a statistical reduction of cytochrome C. On the other hand, both AD and MCI blood cells exhibited highly nitrated MnSOD, index of a prooxidant environment inside the mitochondria. TFAM, a regulator of mitochondrial genome replication and transcription, was decreased in both AD and MCI patients' blood cells. Moreover also the mitochondrial DNA amount was reduced in PBMCs from both patient groups. In conclusion these data confirmed peripheral mitochondria impairment in AD and demonstrated that TFAM and mtDNA amount reduction could be two features of early events occurring in AD pathogenesis. PMID:26881032

  5. Disease signatures for schizophrenia and bipolar disorder using patient-derived induced pluripotent stem cells.

    Science.gov (United States)

    Watmuff, Bradley; Berkovitch, Shaunna S; Huang, Joanne H; Iaconelli, Jonathan; Toffel, Steven; Karmacharya, Rakesh

    2016-06-01

    Schizophrenia and bipolar disorder are complex psychiatric disorders that present unique challenges in the study of disease biology. There are no objective biological phenotypes for these disorders, which are characterized by complex genetics and prominent roles for gene-environment interactions. The study of the neurobiology underlying these severe psychiatric disorders has been hindered by the lack of access to the tissue of interest - neurons from patients. The advent of reprogramming methods that enable generation of induced pluripotent stem cells (iPSCs) from patient fibroblasts and peripheral blood mononuclear cells has opened possibilities for new approaches to study relevant disease biology using iPSC-derived neurons. While early studies with patient iPSCs have led to promising and intriguing leads, significant hurdles remain in our attempts to capture the complexity of these disorders in vitro. We present here an overview of studies to date of schizophrenia and bipolar disorder using iPSC-derived neuronal cells and discuss potential future directions that can result in the identification of robust and valid cellular phenotypes that in turn can lay the groundwork for meaningful clinical advances. PMID:26777134

  6. Expression of integrin alphavbeta6 in the intestinal epithelial cells of patients with inflammatory bowel disease

    Directory of Open Access Journals (Sweden)

    Bai-Sui Feng

    2009-09-01

    Full Text Available Background and aims: The prevalence of inflammatory bowel disease (IBD is about 0.05% in industrialized countries. The pathogenesis of IBD remains to be further understood. The present study aims to elucidate the expression of integrin αvβ6 in the intestinal mucosa of patients with IBD. Materials and Methods: Colonic biopsy was obtained from a group of IBD patients. The expression of αvβ6 in the intestinal mucosa was detected by Western blotting. Human colonic epithelial cell line T84 cells were stimulated by microbial antigen flagellin. The expression of αvβ6 in T84 cells was evaluated by quantitative RT-PCR and Western blotting. Results: The levels of αvβ6 in the intestinal mucosa were much lower than it in normal control subjects. The serum levels of myeloperoxidase (MPO were higher in IBD patients that were negatively correlated with the levels of αvβ6 in the intestinal mucosa. The expression of αvβ6 was detectable in T84 cells at naïve status that could be upregulated by exposure to microbial antigen flagellin. Pretreatment with MPO dramatically suppressed the expression of αvβ6 in T84 cells. Conclusions: We conclude that the expression of αvβ6 was suppressed in IBD intestinal mucosa, which could be resulted from the high levels of MPO.

  7. Impact of Ambient Air Pollution on the Differential White Blood Cell Count in Patients with Chronic Pulmonary Disease

    OpenAIRE

    Brüske, Irene; Hampel, Regina; Socher, Martin M.; Rückerl, Regina; Schneider, Alexandra; Heinrich, Joachim; Oberdörster, Günter; Wichmann, H.-Erich; Peters, Annette

    2010-01-01

    Epidemiologic studies report associations between particulate air pollution and increased mortality from pulmonary diseases.To examine whether the exposure to ambient gaseous and particulate air pollution leads to an alteration of the differential white blood cell count in patients with chronic pulmonary diseases like chronic bronchitis, chronic obstructive pulmonary disease, and asthma.

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

    International Nuclear Information System (INIS)

    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

  9. Regulatory T cells in patients with inflammatory bowel diseases treated with adacolumn granulocytapheresis

    Institute of Scientific and Technical Information of China (English)

    Emilio Cuadrado; Marta Alonso; Maria Dolores de Juan; Pilar Echaniz; Juan Ignacio Arenas

    2008-01-01

    AIM:To investigate if the clinical efficacy of granulocytes and monocytes by adsorption (GMA) is associated with an increased frequency of peripheral regulatory T cells (Tregs),as these cells have proven to be successful in suppressing inflammatory bowel disease (IBD) in animal models.METHODS:We report four cases of corticosteroiddependent ulcerative colitis (UC) and two Crohn's disease (CD) cases with severe cutaneous lesions who received GMA therapy.The frequency of CD4+ CD25high(Tregs)in peripheral blood was analyzed by flow cytometry and the expression of FoxP3 and TGF beta in purified CD4+T cells was determined by real time PCR prior to and one month after the last apheresis session,and at the time of endoscopic and clinical assessing.RESULTS:Increased expression of Fox P3 mRNA was found in all five patients who responded to cytapheresis with remission of clinical symptoms,mucosal inflammation and cutaneous lesions,and an increased frequency of circulating Tregs was found in four patients.These changes were not observed in the patient with UC who did no respond to GMA.Variations in TGF-β(mRNA)did not parallel that of FoxP3 mRNA.CONCLUSION:The clinical efficacy of GMA on IBD and related extra intestinal manifestations was associated with an expansion of circulating CD4+CD25+Treqs and higher expression of FoxP3 in CD4+T cells.Accordingly,an elevated CD4+CD25+FoxP3 may be a valuable index of remission in patients with IBD and other chronic relapsing-remitting inflammatory conditions during treatment with GMA.

  10. Heart valve surgery in patients with homozygous sickle cell disease: A management strategy

    Directory of Open Access Journals (Sweden)

    El Mehdi Moutaouekkil

    2015-01-01

    Full Text Available Background: Patients with the homozygous sickle cell disease have increased perioperative mortality. Some indications like heart valve surgery, may justify an exchange blood transfusion to reduce the proportion of hemoglobin S (HbS and complications. Subjects and Methods: We report two female cases aged 20 and 27, of African origin with homozygous sickle cell anemia who underwent heart valve surgery to treat mitral valve regurgitation. This presentation describes the perioperative considerations including anesthesia and postoperative care. Results: A partial exchange blood transfusion decreased HbS levels from respectively, 90% and 84%, 9% to 27% and 34%, and simultaneously treated the anemia. Neither sickling crisis nor acidosis occurred in any patient, and no special postoperative complication occurred. Average hospital stay was 10 days. Currently, the two patients remain alive and free of cardiac symptoms. Discussion: Although the presence of sickle cell disorders is associated with increased risk of sickling and thus vaso-occlusive complications, they should not be taken as a contraindication for heart valve surgery. Nevertheless, monitoring of certain parameters such as venous, arterial oxygen content, pH, and body temperature is mandatory for a better outcome. Furthermore, preoperative exchange transfusion has a positive influence on the outcome of surgery and on the survival of patients undergoing heart valves surgery. Avoiding intraoperative hypoxia, hypothermia, and vaso-constrictive agents, minimizing HbS levels with preoperative exchange transfusion, and ensuring a stress-free environment with the judicious use of sedatives made surgery relatively safe in these cases.

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

    International Nuclear Information System (INIS)

    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. Abscess formation mimicking disease progression, in a patient with metastatic renal cell carcinoma during sunitinib treatment

    Directory of Open Access Journals (Sweden)

    Gennatas Constantine

    2010-05-01

    Full Text Available Abstract Background Renal cell carcinoma (RCC represents approximately 3% of all adult cancers and is more common in males. Systemic treatment for RCC has improved following the introduction of tyrosine kinase inhibitors, such as sunitinib. The molecular targets of sunitinib are receptor tyrosine kinases (RTKs. Moreover, sunitinib has an additional anti-angiogenic effect through its inhibition of the vascular endothelial growth factor receptor activation. Case presentation We present a case of intra-abdominal abscess formation mimicking disease progression, in a patient with metastatic renal cell carcinoma during sunitinib treatment. Conclusion In the advancing era of molecular therapy of solid tumours, sunitinib has demonstrated significant efficacy in the post-cytokine setting treatment of metastatic renal cancer. Concurrently, however, increasing evidence has emerged to indicate that this class of drugs exert profound immunomodulatory effects on T cells and play major roles in immune tumor surveillance.

  13. 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

  14. Renal cell carcinomas of chronic kidney disease patients harbor the mutational signature of carcinogenic aristolochic acid.

    Science.gov (United States)

    Jelaković, Bojan; Castells, Xavier; Tomić, Karla; Ardin, Maude; Karanović, Sandra; Zavadil, Jiri

    2015-06-15

    Aristolochic acid (AA) is a potent dietary cytotoxin and carcinogen, and an established etiological agent underlying severe human nephropathies and associated upper urinary tract urothelial cancers, collectively designated aristolochic acid nephropathy (AAN). Its genome-wide mutational signature, marked by predominant A:T > T:A transversions occurring in the 5'-CpApG-3' trinucleotide context and enriched on the nontranscribed gene strand, has been identified in human upper urinary tract urothelial carcinomas from East Asian patients and in experimental systems. Here we report a whole-exome sequencing screen performed on DNA from formalin-fixed, paraffin-embedded renal cell carcinomas (RCC) arising in chronic renal disease patients from a Balkan endemic nephropathy (EN) region. In the EN regions, the disease results from the consumption of bread made from wheat contaminated by seeds of Aristolochia clematitis, an AA-containing plant. In five of eight (62.5%) tested RCC tumor specimens, we observed the characteristic global mutational signature consistent with the mutagenic effects of AA. This signature was absent in the control RCC samples obtained from patients from a nonendemic, metropolitan region. By identifying a new tumor type associated with the AA-driven genome-wide mutagenic process in the context of renal disease, our results suggest new epidemiological and public health implications for the RCC incidence worldwide, particularly for the high-risk regions with unregulated use of AA-containing traditional herbal medicines. PMID:25403517

  15. Induced Pluripotent Stem Cells from Familial Alzheimer's Disease Patients Differentiate into Mature Neurons with Amyloidogenic Properties

    OpenAIRE

    Mahairaki, Vasiliki; Ryu, Jiwon; PETERS, ANN; Chang, Qing; Li, Tong; Park, Tea Soon; Burridge, Paul W; Talbot, Conover C.; Asnaghi, Laura; Lee J Martin; Zambidis, Elias T.; Koliatsos, Vassilis E.

    2014-01-01

    Although the majority of Alzheimer's disease (AD) cases are sporadic, about 5% of cases are inherited in an autosomal dominant pattern as familial AD (FAD) and manifest at an early age. Mutations in the presenilin 1 (PSEN1) gene account for the majority of early-onset FAD. Here, we describe the generation of virus-free human induced pluripotent stem cells (hiPSCs) derived from fibroblasts of patients harboring the FAD PSEN1 mutation A246E and fibroblasts from healthy age-matched controls usin...

  16. Frequency of red cell, leukocytic and platelet alloantibodies in patients with hematological diseases

    Directory of Open Access Journals (Sweden)

    N. V. Mineeva

    2014-07-01

    Full Text Available History of multiple transfusions in patients with hematological diseases increases the likelihood of immunization to donor blood cells antigensand immunological complications development. Incidence of alloantibodies development in this patients was assessed in this work. Alloantibodies detection was performed in patients with aplastic anemia, acute leukemia, chronic lymphocytic leukemia, and autoimmune thrombocytopenia. 9696 patients were included in this study. Frequency of alloantibodies to red cell antigens was 3.8 %, with 0.9 % of the antibody belong to the immunoglobulin G, and 2.9 % of the cases – to immunoglobulin M. Most of the IgG antibodies had following specificity:monospecific anti-D antibody (21 cases, anti-DC and anti-DE antibodies (4 cases, anti-C (8 cases, anti-E (15, anti-c (13, and anti-K (11. Anti-e (1, anti-Fya (2, anti-Lea (4, anti-S (2, anti-s (2, anti-Jka (2 antibodies were less common. Granulocytes antibodies were found in 66.7 % of 384 patients, with results dependent on the detection method used. The presence of antiplatelet alloantibodies studied in 285 serum samples, of which antibodies were detected in 99 patients (34.7 %. Specificity of platelet antibodies was determined in three serum samples only: anti-2b, anti-1a, anti-1b. In other patients, probably present antibodies to several antigens simultaneously, and to identify them was not possible.

  17. 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.

  18. Nomograms for Prediction of Disease Recurrence in Patients with Primary Ta, T1 Transitional Cell Carcinoma of the Bladder

    OpenAIRE

    Hong, Sung Joon; Cho, Kang Su; Han, Mooyoung; Rhew, Hyun Yul; Kim, Choung-Soo; Ryu, Soo Bang; Sul, Chong Koo; Chung, Moon Kee; Park, Tong Choon; Kim, Hyung Jin; ,

    2008-01-01

    We developed nomograms to predict disease recurrence in patients with Ta, T1 transitional cell carcinoma of the bladder. Thirty-eight training hospitals participated in this retrospective multicenter study. Between 1998 and 2002, a total of 1,587 patients with newly diagnosed non-muscle invasive bladder cancer were enrolled in this study. Patients with prior histories of bladder cancer, non-transitional cell carcinoma, or a follow-up duration of less than 12 months were excluded. With univari...

  19. Patients with pancreatic adenocarcinoma exhibit elevated levels of myeloid-derived suppressor cells upon progression of disease

    OpenAIRE

    Markowitz, Joseph; Brooks, Taylor R.; Duggan, Megan C.; Paul, Bonnie K.; Pan, Xueliang; Wei, Lai; Abrams, Zachary; Luedke, Eric; Lesinski, Gregory B; Mundy-Bosse, Bethany; Bekaii-Saab, Tanios; Carson, William E

    2014-01-01

    Elevated levels of myeloid-derived suppressor cells (MDSCs) induced by tumor-derived factors are associated with inhibition of immune responses in patients with gastrointestinal malignancies. We hypothesized that pro-MDSC cytokines and levels of MDSC in the peripheral blood would be elevated in pancreatic adenocarcinoma patients with progressive disease. Peripheral blood mononuclear cells (PBMCs) were isolated from 16 pancreatic cancer patients undergoing chemotherapy and phenotyped for MDSC ...

  20. CD8 positive T cells express IL-17 in patients with chronic obstructive pulmonary disease

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    Eidelman David H

    2011-04-01

    Full Text Available Abstract Background Chronic obstructive pulmonary disease (COPD is a progressive and irreversible chronic inflammatory disease of the lung. The nature of the immune reaction in COPD raises the possibility that IL-17 and related cytokines may contribute to this disorder. This study analyzed the expression of IL-17A and IL-17F as well as the phenotype of cells producing them in bronchial biopsies from COPD patients. Methods Bronchoscopic biopsies of the airway were obtained from 16 COPD subjects (GOLD stage 1-4 and 15 control subjects. Paraffin sections were used for the investigation of IL-17A and IL-17F expression in the airways by immunohistochemistry, and frozen sections were used for the immunofluorescence double staining of IL-17A or IL-17F paired with CD4 or CD8. In order to confirm the expression of IL-17A and IL-17F at the mRNA level, a quantitative RT-PCR was performed on the total mRNA extracted from entire section or CD8 positive cells selected by laser capture microdissection. Results IL-17F immunoreactivity was significantly higher in the bronchial biopsies of COPD patients compared to control subjects (P P P P Conclusion These findings support the notion that Th17 cytokines could play important roles in the pathogenesis of COPD, raising the possibility of using this mechanism as the basis for novel therapeutic approaches.

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

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    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

  2. Osteoporosis and Vitamin D Deficiency in Patients with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Zeynep Ozdemir

    2014-12-01

    Full Text Available Aim: Bone disorders such as osteopenia or osteoporosis are the most common clinical manifestations seen in sickle cell disease (SCD with a high of morbidity. There are many reasons, including vitamin D deficiency for the appearance of bone problems. In the present study we aimed to evaluate osteopathy in patients with SCD using bone mineral densitometry (BMD and biochemical indices. Material and Method: 61 patients (29 female, 32 male were included in the study. The age, gender, and biochemical parameters with BMD were evaluated using dual energy X-ray absorptiometry from lumbar vertebrae. According to Z scores, [-2] was considered as osteoporosis. Multivariate analysis was performed to determine the factors influencing BMD. Results: There were a total of 61 SCD patients. The average age was 21.06±5.06 (15-27 years and the mean BMI was 19.15±2.98 kg/m2. 23 patients were osteopenic (11 female, 12 male (37.7% and 26 were osteoporotic (12 female, 13 male (44.3%. Twelve patients (6 female and 6 male (18% had normal Z scores. Vitamin D was found severely deficient (

  3. Determination of B-Cell Epitopes in Patients with Celiac Disease: Peptide Microarrays.

    Directory of Open Access Journals (Sweden)

    Rok Seon Choung

    Full Text Available Most antibodies recognize conformational or discontinuous epitopes that have a specific 3-dimensional shape; however, determination of discontinuous B-cell epitopes is a major challenge in bioscience. Moreover, the current methods for identifying peptide epitopes often involve laborious, high-cost peptide screening programs. Here, we present a novel microarray method for identifying discontinuous B-cell epitopes in celiac disease (CD by using a silicon-based peptide array and computational methods.Using a novel silicon-based microarray platform with a multi-pillar chip, overlapping 12-mer peptide sequences of all native and deamidated gliadins, which are known to trigger CD, were synthesized in situ and used to identify peptide epitopes.Using a computational algorithm that considered disease specificity of peptide sequences, 2 distinct epitope sets were identified. Further, by combining the most discriminative 3-mer gliadin sequences with randomly interpolated3- or 6-mer peptide sequences, novel discontinuous epitopes were identified and further optimized to maximize disease discrimination. The final discontinuous epitope sets were tested in a confirmatory cohort of CD patients and controls, yielding 99% sensitivity and 100% specificity.These novel sets of epitopes derived from gliadin have a high degree of accuracy in differentiating CD from controls, compared with standard serologic tests. The method of ultra-high-density peptide microarray described here would be broadly useful to develop high-fidelity diagnostic tests and explore pathogenesis.

  4. Protein Z polymorphisms associated with vaso-occlusive crisis in young sickle cell disease patients.

    Science.gov (United States)

    Mahdi, Najat; Abu-Hijleh, Tala M; Abu-Hijleh, Farah M; Sater, Mai S; Al-Ola, Khadija; Almawi, Wassim Y

    2012-08-01

    We investigated the association of protein Z (PZ) promoter (rs3024718, rs3024719, and rs3024731) and intron (rs3024735; G79A) SNPs with sickle cell disease (SCD) vaso-occlusive crisis (VOC). Study subjects included 239 SCD patients with VOC and 138 pain-free SCD control patients. PZ genotyping was done by allelic discrimination (real-time PCR) assays. The minor allele frequency of rs3024718 (P=0.03), rs3024719 (P=0.02), rs3024731 (Phaplotypes analysis demonstrated increased frequency of GAAA (P=0.024), AGAA (P=0.011), and GGTG (P=0.002), and reduced frequency of AGTG haplotype (P=0.001) in VOC than in steady-state control patients, thereby conferring disease susceptibility and protective nature to these haplotypes, respectively. Of these, only AGTG (P(c)=0.001) and GGTG (P(c)=0.018) remained significant after applying the Bonferroni correction. In conclusion, specific PZ variants and haplotypes are significantly associated with SCD VOC. PMID:22576309

  5. Genomic profiling of renal cell carcinoma in patients with end-stage renal disease.

    Science.gov (United States)

    Inoue, Toru; Matsuura, Keiko; Yoshimoto, Taichiro; Nguyen, Lam Tung; Tsukamoto, Yoshiyuki; Nakada, Chisato; Hijiya, Naoki; Narimatsu, Takahiro; Nomura, Takeo; Sato, Fuminori; Nagashima, Yoji; Kashima, Kenji; Hatakeyama, Shingo; Ohyama, Chikara; Numakura, Kazuyuki; Habuchi, Tomonori; Nakagawa, Masayuki; Seto, Masao; Mimata, Hiromitsu; Moriyama, Masatsugu

    2012-03-01

    The purpose of the present study was to determine the genomic profile of renal cell carcinoma (RCC) in end-stage renal disease (ESRD) by analyzing genomic copy number aberrations. Seventy-nine tumor samples from 63 patients with RCC-ESRD were analyzed by array comparative genomic hybridization using the Agilent Whole Human Genome 4 × 44K Oligo Micro Array (Agilent Technologies Inc., Palo Alto, CA, USA). Unsupervised hierarchical clustering analysis revealed that the 63 cases could be divided into two groups, Clusters A and B. Cluster A was comprised mainly of clear cell RCC (CCRCC), whereas Cluster B was comprised mainly of papillary RCC (PRCC), acquired cystic disease (ACD)-associated RCC, and clear cell papillary RCC. Analysis of the averaged frequencies revealed that the genomic profiles of Clusters A and B resembled those of sporadic CCRCC and sporadic PRCC, respectively. Although it has been proposed on the basis of histopathology that ACD-associated RCC, clear cell papillary RCC and PRCC-ESRD are distinct subtypes, the present data reveal that the genomic profiles of these types, categorized as Cluster B, resemble one another. Furthermore, the genomic profiles of PRCC, ACD-associated RCC and clear cell papillary RCC admixed in one tissue tended to resemble one another. On the basis of genomic profiling of RCC-ESRD, we conclude that the molecular pathogenesis of CCRCC-ESRD resembles that of sporadic CCRCC. Although various histologic subtypes of non-clear cell RCC-ESRD have been proposed, their genomic profiles resemble those of sporadic PRCC, suggesting that the molecular pathogenesis of non-CCRCC-ESRD may be related to that of sporadic PRCC. PMID:22145865

  6. Encephaloduroarteriosynangiosis and encephalomyoarteriosynangiosis for treatment of moyamoya syndrome in pediatric patients with sickle cell disease.

    Science.gov (United States)

    Griessenauer, Christoph J; Lebensburger, Jeffrey D; Chua, Michelle H; Fisher, Winfield S; Hilliard, Lee; Bemrich-Stolz, Christina J; Howard, Thomas H; Johnston, James M

    2015-07-01

    OBJECT Pediatric patients with sickle cell disease (SCD) and moyamoya syndrome (MMS) are at significant risk for cerebrovascular accidents despite chronic transfusion therapy. Encephaloduroarteriosynangiosis (EDAS) and encephalomyoarteriosynangiosis (EMAS) are additional therapeutic options for these patients. To date, the incidence of complications after and efficacy of EDAS and EMAS in stroke prevention in this population have been described in several institutional case series reports, but no randomized prospective trials have been reported. METHODS The authors retrospectively reviewed the cases of all pediatric patients at the University of Alabama at Birmingham with a history of homozygous hemoglobin S (HbS) and sickle cell/β-thalassemia (SB0 thalassemia) and on chronic transfusion therapy, including 14 patients with MMS who underwent EDAS or EMAS. RESULTS Sixty-two patients with SCD and on chronic transfusion therapy were identified. After exclusion of patients on chronic transfusion therapy for indications other than stroke prevention, 48 patients (77.4%) remained. Of those patients, 14 (29.1%) underwent EDAS or EMAS. Nine (18.8%) and 25 (52.1%) patients were on chronic transfusion therapy for primary or secondary stroke prevention, respectively, but did not undergo EDAS or EMAS. The 14 patients with SCD and radiological evidence of MMS and on chronic transfusion therapy for primary or secondary stroke prevention underwent 21 EDAS or EMAS procedures for progressive vascular disease (92.9% of patients), stroke (71.4%), and/or seizure (7.1%). The mean (± SD) time from initiation of chronic transfusion therapy to EDAS or EMAS was 76.8 ± 58.8 months. Complications included 1 perioperative stroke, 1 symptomatic subdural hygroma, 1 postoperative seizure, and 1 case of intraoperative cerebral edema that required subsequent cranioplasty. Before EDAS or EMAS, the stroke rate was calculated to be 1 stroke per 7.8 patient-years. One additional stroke occurred during

  7. Serum soluble IL-2 receptor as a reliable and noninvasive marker of disease activity in patients with hairy cell leukemia

    International Nuclear Information System (INIS)

    Hairy cell leukemia is a chronic lymphoproliferative disorder of B-cell lineage. Malignant cells express the interleukin-2 receptor (IL-2R) which is released in vitro as well as in vivo. The sera of patients with hairy cell leukemia contain elevated levels of this soluble receptor (sIL-2R). Sere of 24 patients with hairy cell leukemia were tested for sIL-2R. In 9 patients treated with 2-chloro-deoxyadenosine an improved clinical status was associated with decreasing serum sIL-2R. The maximal rate of decrease of sIL-2R level was observed within the second and the third week after the therapy initiation. Patients with disease progression had an increase in serum sIL-2R level. Our results suggest that serial can be used as a reliable, noninvasive means to assess the disease activity and its response to therapy. (author)

  8. Sickle Cell Disease (SCD)

    Science.gov (United States)

    ... disease (SCD) Email this page Print this page Sickle cell disease (SCD) Sickle cell disease (SCD) is a disease of the hemoglobin. ... and form a sickle or a cresent. Tweet Sickle cell disease (SCD) Symptoms of SCD How transplant can ...

  9. Effects of aspirin-triggered resolvin D1 on peripheral blood mononuclear cells from patients with Chagas' heart disease.

    Science.gov (United States)

    Ogata, Haline; Teixeira, Maxelle Martins; de Sousa, Rodrigo Cunha; da Silva, Marcos Vinícius; Correia, Dalmo; Rodrigues Junior, Virmondes; Levy, Bruce David; de Paula Rogério, Alexandre

    2016-04-15

    Chagas disease is caused by Trypanosoma cruzi (T. cruzi). In some patients with Chagas disease, symptoms progress to chronic chagasic cardiomyopathy. Endogenously, inflammation is resolved in the presence of lipid mediators such as aspirin-triggered RvD1 (AT-RvD1) which has anti-inflammatory and pro-resolution effects. Here, we demonstrated, for the first time, the effects of AT-RvD1 on T. cruzi antigen-stimulated peripheral blood mononuclear cells (PBMCs) from patients with Chagas heart disease. The levels of IFN-γ, TNF-α, IL-10, and IL-13 increased in PBMCs from cardiac-form Chagas patients in stage B1 (patients with fewer heart abnormalities) stimulated with T. cruzi antigen compared to those in non-stimulated PBMCs. AT-RvD1 reduced the IFN-γ concentrations in PBMCs from patients with Chagas disease stimulated with T. cruzi antigen compared to stimulated with T. cruzi antigen cells. AT-RvD1 treatment resulted in no observable changes in TNF-α, IL-10, and IL-13 levels. AT-RvD1 significantly decreased the percentage of necrotic cells and caused a significant reduction in the proliferation rate of T. cruzi antigen-stimulated PBMCs from patients with Chagas disease. These findings demonstrate that AT-RvD1 modulates the immune response in Chagas disease patients and might have potential to be used as an alternative approach for slowing the development of further heart damage. PMID:26927755

  10. Patient-specific induced pluripotent stem cells in neurological disease modeling: the importance of nonhuman primate models

    Directory of Open Access Journals (Sweden)

    Qiu Z

    2013-07-01

    Full Text Available Zhifang Qiu,1,2 Steven L Farnsworth,2 Anuja Mishra,1,2 Peter J Hornsby1,21Geriatric Research Education and Clinical Center, South Texas Veterans Health Care System, San Antonio, TX, USA; 2Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center, San Antonio, TX, USAAbstract: The development of the technology for derivation of induced pluripotent stem (iPS cells from human patients and animal models has opened up new pathways to the better understanding of many human diseases, and has created new opportunities for therapeutic approaches. Here, we consider one important neurological disease, Parkinson's, the development of relevant neural cell lines for studying this disease, and the animal models that are available for testing the survival and function of the cells, following transplantation into the central nervous system. Rapid progress has been made recently in the application of protocols for neuroectoderm differentiation and neural patterning of pluripotent stem cells. These developments have resulted in the ability to produce large numbers of dopaminergic neurons with midbrain characteristics for further study. These cells have been shown to be functional in both rodent and nonhuman primate (NHP models of Parkinson's disease. Patient-specific iPS cells and derived dopaminergic neurons have been developed, in particular from patients with genetic causes of Parkinson's disease. For complete modeling of the disease, it is proposed that the introduction of genetic changes into NHP iPS cells, followed by studying the phenotype of the genetic change in cells transplanted into the NHP as host animal, will yield new insights into disease processes not possible with rodent models alone.Keywords: Parkinson's disease, pluripotent cell differentiation, neural cell lines, dopaminergic neurons, cell transplantation, animal models

  11. Multiple skin cancers in a single patient: Multiple pigmented Bowen′s disease, giant basal cell carcinoma, squamous cell carcinoma

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    Ravi Saini

    2015-01-01

    Full Text Available Basal cell carcinoma (BCC and squamous cell carcinoma are the most common type of nonmelanoma skin cancers (NMSCs. Bowen′s disease (BD, a premalignant condition, has a marginal potential (3-5% to progress to invasive carcinoma. We report here a rarest of a rare case of multiple pigmented BD with overlying squamous cell cancer along with a giant neglected BCC on the scalp of a 76-year-old man. The occurrence of multiple BD and NMSC in a single patient compelled us to explore the following hypothesis: (1 The multiple precancerous and cancerous lesions can be due to common etiopathogenesis. Chronic ultraviolet exposure, immunosupresssion, human papillomavirus infection, dietary factors, and environmental factors including arsenic exposure were probed in to. (2 There is evolution of precancerous lesions into a different type of cancers in different time frame. (3 The new cancerous lesions are subsequent cancers that developed after neglected untreated primary cancer.

  12. Responsibilities of Health Care Professionals in Counseling and Educating Patients With Incurable Neurological Diseases Regarding "Stem Cell Tourism": Caveat Emptor.

    Science.gov (United States)

    Bowman, Michelle; Racke, Michael; Kissel, John; Imitola, Jaime

    2015-11-01

    "Stem cell tourism" is a rising Internet-based industry that aims to offer unproven procedures to patients with incurable diseases. This unregulated activity is reaching the neurologist's office as well as across the world, as patients request information or clearance for such procedures. Herein, we posit the need for medical societies and licensing boards to bring this issue to the forefront of neurology because it has the potential to affect patient care with risk of morbidity and mortality, as well as to undermine public confidence in legitimate stem cell research for incurable neurological diseases such as multiple sclerosis and amyotrophic lateral sclerosis. PMID:26322563

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

    Energy Technology Data Exchange (ETDEWEB)

    Gillams, A.R. [Department of Radiology, Boston City Hospital Imaging Foundation, Boston, MA (United States)]|[Academic Department of Medical Imaging, Middlesex Hospital, London (United Kingdom); McMahon, L.; Weinberg, G. [Boston City Hospital Sickle Cell Centre, Boston, MA (United States); Carter, A.P. [Department of Radiology, Boston City Hospital Imaging Foundation, Boston, MA (United States)

    1998-05-01

    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.) With 3 figs., 1 tab., 24 refs.

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

    International Nuclear Information System (INIS)

    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.)

  15. Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease

    DEFF Research Database (Denmark)

    Cooper, Oliver; Seo, Hyemyung; Andrabi, Shaida;

    2012-01-01

    of reactive oxygen species, mitochondrial respiration, proton leakage, and intraneuronal movement of mitochondria. Cellular vulnerability associated with mitochondrial dysfunction in iPSC-derived neural cells from familial PD patients and at-risk individuals could be rescued with coenzyme Q(10), rapamycin......Parkinson's disease (PD) is a common neurodegenerative disorder caused by genetic and environmental factors that results in degeneration of the nigrostriatal dopaminergic pathway in the brain. We analyzed neural cells generated from induced pluripotent stem cells (iPSCs) derived from PD patients...... and mitochondrial dysfunction in this neurodegenerative disease....

  16. Mechanisms of antibody-dependent cellular cytotoxicity: the use of effector cells from chronic granulomatous disease patients as investigative probes.

    OpenAIRE

    Katz, P.; Simone, C B; Henkart, P A; Fauci, A S

    1980-01-01

    The present study characterized the antibody-dependent cellular cytoxicity (ADCC) of leukocyte effector cells (neutrophils, lymphocytes, and monocytes) from normal subjects and from chronic granulomatous disease (CGD) patients. CGD phagocytic cells (neutrophils and monocytes) had depressed ADCC activity against antibody-coated human erythrocyte (HRBC) targets in suspension cultures indicative of abnormal intracellular postphagocytic killing. However, when phagocytosis was prevented by using a...

  17. 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. PMID:26611755

  18. Peripheral blood and intrathyroidal T cell clones from patients with thyroid autoimmune diseases.

    Science.gov (United States)

    Massart, C; Caroff, G; Maugendre, D; Genetet, N; Gibassier, J

    1999-01-01

    For a better understanding of the pathogenesis of thyroid autoimmune diseases, we have studied morphological and functional properties of T clones from peripheral blood lymphocytes (PBL) and from intrathyroidal lymphocytes (ITL) obtained from 3 patients with Graves' disease or 1 Hashimoto's thyroiditis. Investigations were carried out on clones cultured alone or cocultured with autologous thyrocytes. Clonage efficiency ranged from 30% to 33% for PBL and 10% to 36% for ITL. A predominance of CD4-positive clones was observed whatever the origin of the lymphocytes or the autoimmune pathology. Gamma interferon (IFN-gamma) was detected in the majority (17/19) of the clones tested. Intracytoplasmic interleukin (IL-4) was secreted in 7/19 clones and both cytokines were produced in 5/19 clones. In coculture a proliferative response and tumour necrosis factor (TNF-alpha) production were observed with 6 clones (4 from Graves thyrocytes and 2 from thyroiditis). No cytotoxic clone was derived from Graves or thyroiditis tissues. These data demonstrate that the large majority of T clones are principally CD4-T cells; all the clones secreted TNF-alpha and a large majority produced IFN-gamma. Only a few clones produced IL-4 alone or associated with IFN-gamma. Six T clones induced proliferative response and of TNF-alpha secretion in coculture. Further investigations must be performed on these antigen-reactive T clones to analyse their role in the pathogenesis of the human thyroid autoimmune diseases. PMID:10739333

  19. Laquinimod dampens hyperactive cytokine production in Huntington's disease patient myeloid cells.

    Science.gov (United States)

    Dobson, Lucianne; Träger, Ulrike; Farmer, Ruth; Hayardeny, Liat; Loupe, Pippa; Hayden, Michael R; Tabrizi, Sarah J

    2016-06-01

    Huntington's disease (HD) is a neurodegenerative condition characterized by pathology in the brain and peripheral tissues. Hyperactivity of the innate immune system, due in part to NFκB pathway dysregulation, is an early and active component of HD. Evidence suggests targeting immune disruption may slow disease progression. Laquinimod is an orally active immunomodulator that down-regulates proinflammatory cytokine production in peripheral blood mononuclear cells, and in the brain down-regulates astrocytic and microglial activation by modulating NFκB signalling. Laquinimod had beneficial effects on inflammation, brain atrophy and disease progression in multiple sclerosis (MS) in two phase III clinical trials. This study investigated the effects of laquinimod on hyperactive proinflammatory cytokine release and NFκB signalling in HD patient myeloid cell cultures. Monocytes from manifest (manHD) and pre-manifest (preHD) HD gene carriers and healthy volunteers (HV) were treated with laquinimod and stimulated with lipopolysaccharide. After 24 h pre-treatment with 5 μM laquinimod, manHD monocytes released lower levels of IL-1β, IL-5, IL-8, IL-10, IL-13 and TNFα in response to stimulation. PreHD monocytes released lower levels of IL-8, IL-10 and IL-13, with no reduction observed in HV monocytes. The effects of laquinimod on dysfunctional NFκB signalling in HD was assessed by inhibitor of kappa B (IκB) degradation kinetics, nuclear translocation of NFκB and interactions between IκB kinase (IKK) and HTT, in HD myeloid cells. No differences were observed between laquinimod-treated and untreated conditions. These results provide evidence that laquinimod dampens hyper-reactive cytokine release from manHD and preHD monocytes, with a much reduced effect on HV monocytes. Evidence suggests targeting CNS and peripheral immune disruption may slow Huntington's disease (HD) neurodegenerative processes. The effects of laquinimod, an orally active immunomodulator, on

  20. Hydroxyurea Therapy Mobilises Arachidonic Acid from Inner Cell Membrane Aminophospholipids in Patients with Homozygous Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    A. A. Daak

    2011-01-01

    Full Text Available The cytotoxic compound hydroxyurea (HU is effective therapy for sickle cell disease. However, its effect on unsaturated membrane lipids is unknown. Red cell fatty acids were investigated in HU-treated (n=19 and HU-untreated (n=17 sickle cell patients and controls (n=20. The HU-treated compared with the HU-untreated patients had lower arachidonic (AA acid level in ethanolamine, physphoglycerids (EPG (22.9±1.2   versus   24.0±1.1%,  P<0.05 serine SPG (22.13±2.2   versus   24.9±2.3%,  P<0.01 phosphoglycerides. The treated patients and controls had comparable levels of docosahexaenoic (DHA and total n-3 fatty acids in EPG and choline phosphoglycerides (CPG. In contrast, the untreated group had significantly (P<0.05 lower DHA and total n-3 compared with the controls in EPG (2.7±0.4   versus   3.2±0.6% and 4.6±0.5   versus   5.2±0.7% and CPG (0.7±0.2   versus   1.0±0.2% and 1.2±0.2   versus   1.4±0.3. HU is known to activate cytosolic phospholipase A2 and cyclooxygenase 2, and from this study, it appears to induce mobilisation of AA from the inner cell membrane EPG and SPG. Hence, eicosanoids generated from the released AA may play a role in clinical improvements which occur in HU-treated patients.

  1. Study on the relationship between red blood cell immunity and lipid peroxidation in patients with hand-foot-mouth disease

    International Nuclear Information System (INIS)

    Objective: To study the relationship between red blood cell immunity and lipid peroxidation in patients with hand-foot-mouth disease. Methods: The red blood cell C3b receptor (RBC-C3bR) and red blood cell immune complex rosette (RBC-ICR) were measured in 42 patients with hand-foot-mouth disease as well as in 35 controls. The serum levels of MDA, SOD and GSH-PX were also measured with colorimetry in these subjects. Results: RBC-ICRR and MDA levels were significantly higher in patients with hand-foot-mouth disease than those in controls(P<0.01), while the RBC-C3bR, SOD, GSH-PX levels were significantly lower in patients with hand-foot-mouth disease than those in controls (P<0.01). RBC-C3bR was negatively correlated with MDA (r=-0.5014, P<0.05), but RBC-ICR was positively correlated with MDA (r=0.5942, P<0.01). Conclusion: The lowered red cell immune function was closely associated with the lipid peroxidation injury in patients with hand-foot-mouth disease. (authors)

  2. Decreased pre-surgical CD34+/CD144+ cell number in patients undergoing coronary artery bypass grafting compared to coronary artery disease-free valvular patients

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    Redondo Santiago

    2012-01-01

    Full Text Available Abstract Background Cardiovascular disease has been linked to endothelial progenitor cell (EPC depletion and functional impairment in atherosclerosis and aortic stenosis. EPCs may play a pivotal role in vascular grafting. However, the EPC depletion in coronary artery bypass grafting (CABG patients has not been compared to coronary artery disease-free valvular replacement patients with aortic stenosis. Methods We aimed to assess the basal number of CD34+/KDR+ and CD34+/CD144+ cells in CABG patients, compared to aortic stenosis valvular replacement patients. 100 patients (51 CABG and 49 valvular surgery ones were included in the present study. All CABG or valvular patients had angiographic demonstration of the presence or the absence of coronary artery disease, respectively. Numbers of CD34+/KDR+ and CD34+/CD144+ were assessed by flow cytometry of pre-surgical blood samples. Results We found a lower number of CD34+/CD144+ cells in CABG patients compared to valvular patients (0.21 ± 0.03% vs. 0.47 ± 0.08%, and this difference remained statistically significant after the P was adjusted for multiple comparisons (P = 0.01428. Both groups had more EPCs than healthy controls. Conclusions Pre-surgical CD34+/CD144+ numbers are decreased in CABG patients, compared to valvular patients with absence of coronary disease.

  3. Successful orthotopic liver transplantation in an adult patient with sickle cell disease and review of the literature

    Directory of Open Access Journals (Sweden)

    Morey Blinder

    2013-05-01

    Full Text Available Sickle cell disease can lead to hepatic complications ranging from acute hepatic crises to chronic liver disease including intrahepatic cholestasis, and iron overload. Although uncommon, intrahepatic cholestasis may be severe and medical treatment of this complication is often ineffective. We report a case of a 37 year-old male patient with sickle cell anemia, who developed liver failure and underwent successful orthotopic liver transplantation. Both pre and post-operatively, he was maintained on red cell transfusions. He remains stable with improved liver function 42 months post transplant. The role for orthotopic liver transplantation is not well defined in patients with sickle cell disease, and the experience remains limited. Although considerable challenges of post-transplant graft complications remain, orthotopic liver transplantation should be considered as a treatment option for sickle cell disease patients with end-stage liver disease who have progressed despite conventional medical therapy. An extended period of red cell transfusion support may lessen the post-operative complications.

  4. A disease risk index for patients undergoing allogeneic stem cell transplantation

    OpenAIRE

    Armand, Philippe; Gibson, Christopher J.; Cutler, Corey; Ho, Vincent T.; Koreth, John; Alyea, Edwin P.; Ritz, Jerome; Sorror, Mohamed L.; Lee, Stephanie J.; Deeg, H. Joachim; Storer, Barry E.; Appelbaum, Frederick R.; Antin, Joseph H.; Soiffer, Robert J.; Kim, Haesook T.

    2012-01-01

    The outcome of allogeneic HSCT varies considerably by the disease and remission status at the time of transplantation. Any retrospective or prospective HSCT study that enrolls patients across disease types must account for this heterogeneity; yet, current methods are neither standardized nor validated. We conducted a retrospective study of 1539 patients who underwent transplantation at Dana-Farber Cancer Institute/Brigham and Women's Hospital from 2000 to 2009. Using multivariable models for ...

  5. Red blood cell deformability and aggregation in chronic venous disease patients with varicose veins

    OpenAIRE

    Karolina Słoczyńska; Mariusz Kózka; Henryk Marona

    2013-01-01

    Introduction: Red blood cells’ (RBC) rheological properties are disturbed in chronic venous disease (CVD). The aim of the study was to compare deformability and aggregation of erythrocytes taken from the varicose vein and the antecubital vein of patients with chronic venous disease.Materials and Methods: Blood samples were taken from twelve CVD patients presenting clinical, aetiological, anatomical and pathological elements (CEAP) stages II and III. Blood was sampled from varicose veins and a...

  6. Tuberculous spondylodiscitis in a patient with a sickle-cell disease: CT findings

    International Nuclear Information System (INIS)

    Although sickle-cell anemia (SCA) is common in black Americans, Sub-Saharan Africa and in the Mediterranean area, the disease is rare in the temperate climate zone. The manifestations of the disease are related mainly to the production of abnormal hemoglobin that leads to organ ischemia and increased susceptibility to infection caused by functional asplenia. The authors present CT findings in a 39-year-old black woman diagnosed due to abdominal pain, lymphadenopathy and fever. CT of the thorax and abdomen demonstrated changes in the liver, spleen, and skeletal system suggestive of SCA complicated with spondylodiscitis in the thoracic spine. Hepatomegaly and small calcified spleen are typical findings in older homozygotic patients with SCA. The lesions in the skeleton may be related either to intramedullary hematopoiesis or osteonecrosis and osteomyelitis. In the latter case, diffuse osteosclerosis and H-shaped vertebrae are most typical. Tuberculous spondylodiscitis is characterized by the location in the thoracic region, preferential involvement of anterior elements, relative sparing of intervertebral discs, and cold abscesses

  7. Altered pattern of Naïve and memory B cells and B1 cells in patients with chronic granulomatous disease.

    OpenAIRE

    2014-01-01

    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder characterized by a greatly increased susceptibility to severe fungal and bacterial infections caused by defects in NADPH oxidase of phagocytic cells. We aimed to investigate immunophenotype alterations of naïve and memory B cells and B1a cells in peripheral whole blood from Iranian patients with CGD. Flow cytometric analysis was performed on peripheral blood samples from 31 CGD patients and 23 healthy controls (HC...

  8. Hypersensitivity to X-rays in cells from patients with the neuropathology of Alzheimer disease

    International Nuclear Information System (INIS)

    The neuropathologic features of premature death of neurons in Alzheimer disease (AD) are also present in virtually all Down syndrome (DS) patients over 35 years of age. The authors studied the survival of cultured AD and DS lymphoblastoid lines after irradiation with X rays. The cells, grown in RPMI medium 1640 supplemented with 20% fetal bovine serum, were irradiated with 100 rads. A line's post-X-ray viability ratio was calculated by dividing the number of viable (trypan blue-excluding) cells in an irradiated culture on the third postirradiation day by the number of viable cells in an unirradiated culture of the same line on that day. The 5 AD and 4 DS lines had mean post-X-ray viability ratios (+-SE) of 0.48 (+-0.012) and 0.42 (+-0.016), respectively, which were significantly less (one-sided P values of 0.018 and < 10/sup -4/, respectively) than the ratio of 0.54 (+-0.010) of the 28 normal lines. The AD and DS lines were not hypersensitive to 254-nm UV radiation. The hypersensitivity to X rays in the AD and DS lines may result from an abnormal accumulation of unrepaired damage induced in DNA by the X rays. Since neuronal DNA is constantly being damaged in vivo by deamination, endogenous metabolites, and spontaneous hydrolysis, the premature death of neurons which is common to both AD and DS may be due to the accumulation of DNA damage due to defective DNA repair mechanisms

  9. Antibody Reactivity of B Cells in Lupus Patients with Increased Disease Activity and ARID3a Expression

    Directory of Open Access Journals (Sweden)

    Julie M. Ward

    2015-11-01

    Full Text Available Earlier studies showed that the DNA-binding protein, Bright/ARID3a bound to a subset of human and mouse immunoglobulin heavy chain promoters where it enhanced expression. Indeed, mice with transgenic expression of ARID3a in all B lymphocytes have expanded MZ B cells and produce anti-nuclear antibodies (ANAs. Consistent with our findings in mice, we observed that human systemic lupus erythematosus (SLE patients had expanded numbers of peripheral blood ARID3a+ B cells that were associated with increased disease activity (p = 0.0038. We hypothesized that ARID3a+ naïve B cells would eventually produce autoantibodies, explaining associations between ARID3a expression and disease activity in lupus. Unlike healthy controls, ARID3a was expressed in the naïve B cell population in SLE patients, and we hypothesized that these might represent expansions of autoreactive cells. Therefore, monoclonal antibodies were generated from single-sorted naïve B cells derived from patients with normal (ARID3aN and high (ARID3aH numbers of ARID3a+ B cells. We found that ARID3a expression did not correlate with autoantibody expression. Furthermore, measures of antigen specificities of autoreactive antibodies did not reveal skewing toward particular proteins. These data suggest that the association of increased disease activity in SLE with numbers of ARID3a+ B lymphocytes may be mediated by an antibody-independent mechanism.

  10. Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases

    Science.gov (United States)

    2005-06-23

    Purpura, Schoenlein-Henoch; Graft Versus Host Disease; Anemia, Hemolytic, Autoimmune; Rheumatoid Arthritis; Churg-Strauss Syndrome; Hypersensitivity Vasculitis; Wegener's Granulomatosis; Systemic Lupus Erythematosus; Giant Cell Arteritis; Pure Red Cell Aplasia; Juvenile Rheumatoid Arthritis; Polyarteritis Nodosa; Autoimmune Thrombocytopenic Purpura; Takayasu Arteritis

  11. Cardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem Cells

    Directory of Open Access Journals (Sweden)

    Atsushi Tanaka

    2015-08-01

    Full Text Available The generation of induced pluripotent stem cells (iPSCs has opened up a new scientific frontier in medicine. This technology has made it possible to obtain pluripotent stem cells from individuals with genetic disorders. Because iPSCs carry the identical genetic anomalies related to those disorders, iPSCs are an ideal platform for medical research. The pathophysiological cellular phenotypes of genetically heritable heart diseases such as arrhythmias and cardiomyopathies, have been modeled on cell culture dishes using disease-specific iPSC-derived cardiomyocytes. These model systems can potentially provide new insights into disease mechanisms and drug discoveries. This review focuses on recent progress in cardiovascular disease modeling using iPSCs, and discusses problems and future perspectives concerning their use.

  12. Sickle Cell Disease

    Science.gov (United States)

    ... in Sickle Cell Disease New supplement from the American Journal of Preventive Medicine describes the state of sickle cell disease related care in the United States. Read Supplement » ... are affected by sickle cell disease. More WEBINAR ...

  13. Sickle Cell Disease

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Sickle Cell Disease? Español The term sickle cell disease (SCD) ... common forms of SCD. Some Forms of Sickle Cell Disease Hemoglobin SS Hemoglobin SC Hemoglobin Sβ 0 thalassemia ...

  14. Autologous Bone Marrow Mononuclear Cell Transplantation in Patients with Decompensated Alcoholic Liver Disease: A Randomized Controlled Trial

    OpenAIRE

    Spahr, Laurent François Joséph; Chalandon, Yves; Terraz, Sylvain; Kindler, Vincent Lucien; Rubbia-Brandt, Laura; Frossard, Jean-Louis; Breguet, Romain; Lanthier, Nicolas; Farina, Annarita; Passweg, Jakob; Becker, Christoph; Hadengue, Antoine

    2013-01-01

    Objective Impaired liver regeneration is associated with a poor outcome in patients with decompensated alcoholic liver disease (ALD). We assessed whether autologous bone marrow mononuclear cell transplantation (BMMCT) improved liver function in decompensated ALD. Design 58 patients (mean age 54 yrs; mean MELD score 19, all with cirrhosis, 81% with alcoholic steatohepatitis at baseline liver biopsy) were randomized early after hospital admission to standard medical therapy (SMT) alone (n = 30)...

  15. Treatment of Priapism with Automated Red Cell Exchange and Hyperbaric Oxygen in an 11-year-old Patient with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Fatih Mehmet Azık

    2012-09-01

    Full Text Available Priapism affects up to 50% of all males with sickle cell disease, and there is no standard treatment. Delayed and unsuccessful treatment leads to corporal fibrosis and impotence. It is therefore necessary to determine the best treatment methods for this complication in order to offer effective interventions to all affected patients. Herein we report an 11-year-old patient with sickle cell disease that presented with priapism 72 h after onset, and was successfully treated with automated red cell exchange and hyperbaric oxygen following unsuccessful surgical and conventional interventions.

  16. Loss of T Follicular Helper Cells in the Peripheral Blood of Patients with Chronic Graft-versus-Host Disease.

    Science.gov (United States)

    Knorr, David A; Wang, Hongbo; Aurora, Mukta; MacMillan, Margaret L; Holtan, Shernan G; Bergerson, Rachel; Cao, Qing; Weisdorf, Daniel J; Cooley, Sarah; Brunstein, Claudio; Miller, Jeffery S; Wagner, John E; Blazar, Bruce R; Verneris, Michael R

    2016-05-01

    B cell antihost antibody production plays a central role in chronic graft-versus-host disease (cGVHD). T follicular helper (TFH) cells drive B cell responses and are implicated in this process. Given differences in cGVHD incidence between umbilical cord blood (UCB) and adult donor transplant recipients, we evaluated TFH cell reconstitution kinetics to define graft source differences and their potential pathogenic role in cGVHD. Although we observed significantly fewer TFH cells in the blood of UCB recipients (versus matched related donors [MRD]) early after transplantation, by 1 year the numbers of TFH cells were similar. Additionally, at both early (day 60) and late (1 year) time points, TFH cell phenotype was predominantly central memory cells in both cohorts. TFH cells were functional and able to produce multiple cytokines (INF-γ, TNF-α, IL-2, IL-17, and IL-21) after stimulation. In contrast to mouse models, where an enhanced frequency of splenic TFH cells contributes to cGVHD, patients with cGVHD showed significantly depleted circulating TFH cells after both UCB and MRD transplantation. Low numbers of TFH cells early after UCB transplantation could directly contribute to less cGVHD in this cohort. Additionally, systemic therapy (including steroids and calcineurin inhibitors) may contribute to decreases in TFH cells in patients with cGVHD. These data provide further evidence supporting the importance of TFH cells in cGVHD pathogenesis. PMID:26806586

  17. Aplastic crisis caused by parvovirus B19 in an adult patient with sickle-cell disease

    OpenAIRE

    Setúbal Sérgio; Gabriel Adelmo H.D.; Nascimento Jussara P.; Oliveira Solange A.

    2000-01-01

    We describe a case of aplastic crisis caused by parvovirus B19 in an adult sickle-cell patient presenting with paleness, tiredness, fainting and dyspnea. The absence of reticulocytes lead to the diagnosis. Anti-B19 IgM and IgG were detected. Reticulocytopenia in patients with hereditary hemolytic anemia suggests B19 infection.

  18. Steady state hemoglobin concentration and packed cell volume in homozygous sickle cell disease patients in Lagos, Nigeria

    OpenAIRE

    Akinbami, Akinsegun; Dosunmu, Adedoyin; Adediran, Adewumi; Oshinaike, Olajumoke; Phillip, Adebola; Vincent, Osunkalu; Olanrewaju, Arogundade; Oluwaseun, Adelekan

    2012-01-01

    Background: Sickle cell disease is a genetic disorder of hemoglobin causing myriad of pathology including anemia. The purpose of this study was to evaluate the baseline values of steady state hemoglobin and packed cell volume as a guide to managing the early recognition of hemolytic crises in sickle cell anemia.

  19. CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease

    Science.gov (United States)

    2016-03-10

    Bone Marrow Failure Syndrome; Severe Aplastic Anemia; Severe Congenital Neutropenia; Amegakaryocytic Thrombocytopenia; Diamond-Blackfan Anemia; Schwachman Diamond Syndrome; Primary Immunodeficiency Syndromes; Acquired Immunodeficiency Syndromes; Histiocytic Syndrome; Familial Hemophagocytic Lymphocytosis; Lymphohistiocytosis; Macrophage Activation Syndrome; Langerhans Cell Histiocytosis (LCH); Hemoglobinopathies; Sickle Cell Disease; Sickle Cell-beta-thalassemia

  20. Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Suha Mustafa Hassan

    2015-05-01

    Full Text Available Despite the fact that patients homozygous for the sickle cell disease (SCD mutation have an identical genotype, the severity of the disease can be extremely variable. The hemoglobin (Hb S mutation has been described on five different haplotypes with different clinical expression. Identifying the genotypes, haplotypes and sub-haplotypes of the β gene cluster in Oman needs to be studied in more details to establish a correlation between the genotype/haplotype and phenotype diversity observed in SCD patients for prognostic purposes, accurate diagnosis and thus planning for the best tailored treatment. We have investigated 125 HbS homozygotes from different parts of Oman and determined their haplotypes and sub-haplotypes and correlated this to the hematological and clinical expression. We have found 11 haplotype combinations differently distributed in the country, with the Asian/Asian HbS haplotype being the most predominant. Sub-haplotypes was only found among patients with CAR/OmanI haplotype. As expected, the correlation between haplotypes, sub-haplotypes and disease severity was mainly associated with HbF expression. Our study on haplotype/phenotype correlation has shown which major haplotypes occur in the different regions of Oman. Furthermore, neither the haplotype or sub-haplotype nor the HbF alone appeared to be fully associable with the variable clinical phenotypes. External factors do occur and are associated with the expression of the disease.  尽管镰状细胞突变病(SCD)患者拥有相同的基因类型,但患者的病患程度却大相径庭。血红蛋白(Hb)S突变有五种不同的单体型,各种类型在临床表现上也不相同。为了识别在阿曼地区β基因簇的基因型、单体型,亚单体型,需要研究更多以SCD患者预后为目的,关于其观察到的基因型、单体型,表型多样性之间联系的更多细节,以便作出准确的诊断,为各

  1. Altered pattern of Naïve and memory B cells and B1 cells in patients with chronic granulomatous disease.

    Science.gov (United States)

    Mohsenzadegan, Monireh; Fattahi, Fahimeh; Fattahi, Fatemeh; Mirshafiey, Abbas; Fazlollahi, Mohammad Reza; Naderi Beni, Fariba; Movahedi, Masoud; Pourpak, Zahra

    2014-06-01

    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder characterized by a greatly increased susceptibility to severe fungal and bacterial infections caused by defects in NADPH oxidase of phagocytic cells. We aimed to investigate immunophenotype alterations of naïve and memory B cells and B1a cells in peripheral whole blood from Iranian patients with CGD. Flow cytometric analysis was performed on peripheral blood samples from 31 CGD patients and 23 healthy controls (HC) to study naïve (IgD+/CD27-), memory (CD27+) B and B1a (CD5+) cells. Soluble CD27 (sCD27) and immunoglobulins were also measured by ELISA and the nephelometric method, respectively. We found significantly higher levels of naïve B cells and B1a cells but lower levels of memory B cells in CGD patients compared to HC.. There was no significant difference in soluble CD27 (sCD27) alteration between CGD patients and HC. Our findings suggested a role for NADPH oxidase in process of B cell differentiation and impairing conversion of naïve B cells to memory B cells and altered B1a cells in CGD patients. Increased susceptibility of CGD patients to opportunistic infections and autoimmune disorders could be partly explained by the altered phenotype of B lymphocytes in these patients. PMID:24659119

  2. Altered pattern of Naïve and memory B cells and B1 cells in patients with chronic granulomatous disease.

    Directory of Open Access Journals (Sweden)

    Monireh Mohsenzadegan

    2014-06-01

    Full Text Available Chronic granulomatous disease (CGD is a rare primary immunodeficiency disorder characterized by a greatly increased susceptibility to severe fungal and bacterial infections caused by defects in NADPH oxidase of phagocytic cells. We aimed to investigate immunophenotype alterations of naïve and memory B cells and B1a cells in peripheral whole blood from Iranian patients with CGD. Flow cytometric analysis was performed on peripheral blood samples from 31 CGD patients and 23 healthy controls (HC to study naïve (IgD+/CD27-, memory (CD27+ B and B1a (CD5+ cells. Soluble CD27 (sCD27 and immunoglobulins were also measured by ELISA and the nephelometric method, respectively. We found significantly higher levels of naïve B cells and B1a cells but lower levels of memory B cells in CGD patients compared to HC.. There was no significant difference in soluble CD27 (sCD27 alteration between CGD patients and HC. Our findings suggested a role for NADPH oxidase in process of B cell differentiation and impairing conversion of naïve B cells to memory B cells and altered B1a cells in CGD patients. Increased susceptibility of CGD patients to opportunistic infections and autoimmune disorders could be partly explained by the altered phenotype of B lymphocytes in these patients.

  3. Stem Cell Transplant Patients and Fungal Infections

    Science.gov (United States)

    ... Zoonotic Infectious Disease Division of Foodborne, Waterborne, and Environmental Diseases Mycotic Diseases Branch Stem Cell Transplant Patients and ... Zoonotic Infectious Disease Division of Foodborne, Waterborne, and Environmental Diseases Mycotic Diseases Branch File Formats Help: How do ...

  4. Regulatory B and T cell responses in patients with autoimmune thyroid disease and healthy controls

    DEFF Research Database (Denmark)

    Kristensen, Birte

    2016-01-01

    ionomycin, by CpG oligodeoxynucletodies (ODN) 2006, or by TG. Several phenotypes have been associated with B10 cells such as CD5+, CD25+, TIM-1+, CD24hiCD38hi and CD27+CD43+. We found that larger proportions of B10 cells in patients with GD or HT were CD25+ and TIM-1+ than B10 cells in healthy donors. In...

  5. Study on T lymphocyte subsets and NK cells in patients with Graves disease combined with type 2 diabetes

    Institute of Scientific and Technical Information of China (English)

    魏枫; 杜婧; 苏秀兰; 乌兰; 王津京; 霍晓静

    2008-01-01

    Objective To investigate changes in T lymphocyte subsets and NK cells in patients with simple Graves' disease(GD)and Graves' disease combined with type 2 diabetes mellitus(GD/T2DM).Methods Fifteen cases of GD/T2DM were selected from our hospital from November 2001 to November 2004.Before and after therapy thyroid function,thyroglobulin antibody(TGA),thyroid microsomal antibody(TMA)and blood glucose level were measured,and T lymphocyte subsets(CD3,CD4,CD8,CD4/CD8)and NK cells(CD56)were measured by immunofluo...

  6. FOXP3+ T Regulatory Cell Modifications in Inflammatory Bowel Disease Patients Treated with Anti-TNFα Agents

    Directory of Open Access Journals (Sweden)

    Luisa Guidi

    2013-01-01

    Full Text Available Treg modulation has been hypothesized as one of the mechanisms by which antitumor necrosis factor α (TNFα agents exert their action in rheumatoid arthritis (RA and inflammatory bowel disease (IBD. However, data in IBD are still conflicting. We evaluated CD4+CD25+FOXP3+ (Tregs by flow cytometry in peripheral blood from 32 adult IBD patient before (T0 and after the induction of anti-TNFα therapy (T1. Eight healthy controls (HCs were included. We also evaluated the number of FOXP3+ cells in the lamina propria (LP in biopsies taken in a subset of patients and controls. Treg frequencies were significantly increased in peripheral blood from our patients after anti-TNFα therapy compared to T0. T1 but not T0 levels were higher than HC. The increase was detectable only in clinical responders to the treatment. A negative correlation was found among delta Treg levels and the age of patients or disease duration and with the activity score of Crohn’s disease (CD. No significant differences were found in LP FOXP3+ cells. Our data suggest the possibility that in IBD patients the treatment with anti-TNFα may affect Treg percentages and that Treg modifications may correlate with clinical response, but differently in early versus late disease.

  7. Low Frequency of Circulating CD8+ T Stem Cell Memory Cells in Chronic Chagasic Patients with Severe Forms of the Disease

    Science.gov (United States)

    Mateus, Jose; Lasso, Paola; Pavia, Paula; Rosas, Fernando; Roa, Nubia; Valencia-Hernández, Carlos Andrés; González, John Mario; Puerta, Concepción J.; Cuéllar, Adriana

    2015-01-01

    Background CD8+ T cells have been shown to play a crucial role in Trypanosoma cruzi infection. Memory CD8+ T cells can be categorised based on their distinct differentiation stages and functional activities as follows: stem cell memory (TSCM), central memory (TCM), transitional memory (TTM), effector memory (TEM) and terminal effector (TTE) cells. Currently, the immune mechanisms that control T. cruzi in the chronic phase of the infection are unknown. Methodology/Principal Findings To characterise the CD8+ T cell subsets that could be participating in the control of T. cruzi infection, in this study, we compared total and T. cruzi-specific circulating CD8+ T cells with distinctive phenotypic and functional features in chronic chagasic patients (CCPs) with different degrees of cardiac dysfunction. We observed a decreased frequency of total TSCM along with an increased frequency of TTE in CCPs with severe disease. Antigen-specific TSCM cells were not detectable in CCPs with severe forms of the disease. A functional profile of CD8+ T cell subsets among CCPs revealed a high frequency of monofunctional CD8+ T cells in the most severe patients with IFN-γ+- or TNF-α+-producing cells. Conclusions/Significance These findings suggest that CD8+ TSCM cells may be associated with the immune response to T. cruzi and outcome of Chagas disease, given that these cells may be involved in repopulating the T cell pool that controls infection. PMID:25569149

  8. Combined analysis of circulating epithelial cells and serum thyroglobulin for distinguishing disease status of the patients with papillary thyroid carcinoma

    Science.gov (United States)

    Lin, Hung-Chih; Liou, Miaw-Jene; Hsu, Hsung-Ling; Hsieh, Jason Chia-Hsun; Chen, Yi-An; Tseng, Ching-Ping; Lin, Jen-Der

    2016-01-01

    Papillary thyroid carcinoma (PTC) accounts for about 80% of the cases in thyroid cancer. Routine surveillance by serum thyroglobulin (Tg) and medical imaging is the current practice to monitor disease progression of the patients. Whether enumeration of circulating epithelial cells (CECs) helps to define disease status of PTC patients was investigated. CECs were enriched from the peripheral blood of the healthy control subjects (G1, n = 17) and the patients at disease-free status (G2, n = 26) or with distant metastasis (G3, n = 22). The number of CECs expressing epithelial cell adhesion molecule (EpCAM) or thyroid-stimulating hormone receptor (TSHR) was determined by immunofluorescence microscopy analyses. The medium number of EpCAM+-CECs was 6 (interquartile range 1-11), 12 (interquartile range 7-16) and 91 (interquartile range 31-206) cells/ml of blood for G1, G2 and G3, respectively. EpCAM+-CEC counts were significantly higher in G3 than in G1 (p < 0.05) and G2 (p < 0.05). The medium number of TSHR+-CECs was 9 (interquartile range 3-13), 16 (interquartile range 10-24) and 100 (interquartile range 31-226) cells/ml of blood for G1, G2 and G3, respectively. The TSHR+-CEC counts also distinguished G3 from G1 (p < 0.05) and G2 (p < 0.05). With an appropriate cut off value of CEC count, the disease status for 97.9% (47/48) of the cases was clearly defined. Notably, the metastatic disease for all patients in G3 (22/22) was revealed by combined analysis of serum Tg and CEC. This study implicates that CEC testing can supplement the current standard methods for monitoring disease status of PTC. PMID:26684026

  9. Oligoarray comparative genomic hybridization of renal cell tumors that developed in patients with acquired cystic renal disease.

    Science.gov (United States)

    Kuntz, Eva; Yusenko, Maria V; Nagy, Anetta; Kovacs, Gyula

    2010-09-01

    Renal cell carcinoma occurs at higher frequency in acquired cystic renal disease than in the general population. We have analyzed 4 tumors obtained from the kidneys of 2 patients with acquired cystic renal disease, including 2 conventional renal cell carcinomas and 2 acquired cystic renal disease-associated tumors, for genetic alterations. DNA changes were established by applying the 44K Agilent Oligonucleotide Array-Based CGH (Agilent Technologies, Waldbronn, Germany), and mutation of VHL gene was detected by direct sequencing of the tumor genome. DNA losses and mutation of the VHL gene, which are characteristic for conventional renal cell carcinomas, were seen in 2 of the tumors. The acquired cystic renal disease-associated eosinophilic-vacuolated cell tumor showed gain of chromosomes 3 and 16. No DNA alterations occurred in the papillary clear cell tumor. We suggest that not only the morphology but also the genetics of renal cell tumors associated with acquired cystic renal disease may differ from those occurring in the general population. PMID:20646738

  10. In silico mutation analysis of human beta globin gene in sickle cell disease patients

    Directory of Open Access Journals (Sweden)

    Hira Mubeen

    2016-05-01

    Conclusion: Studies suggested that there is need to maintain a primary prevention program to detect sickle cell disease at earlier stages despite having a large high risk. Preventive diagnosis and follow-up would reduce infant mortality by preventing the development of severe anemia as well as dangerous complications. In short, sickle cell disease surveillance would avert loss of life, measured as the number of years lost due to ill-health, disability or early death. [Int J Res Med Sci 2016; 4(5.000: 1673-1677

  11. Isolation of Enteric Nervous System Progenitor Cells from the Aganglionic Gut of Patients with Hirschsprung’s Disease

    Science.gov (United States)

    Wilkinson, David J.; Bethell, George S.; Shukla, Rajeev; Kenny, Simon E.; Edgar, David H.

    2015-01-01

    Enteric nervous system progenitor cells isolated from postnatal human gut and cultured as neurospheres can then be transplanted into aganglionic gut to restore normal patterns of contractility. These progenitor cells may be of future use to treat patients with Hirschprung’s disease, a congenital condition characterized by hindgut dysmotility due to the lack of enteric nervous system ganglia. Here we demonstrate that progenitor cells can also be isolated from aganglionic gut removed during corrective surgery for Hirschsprung’s disease. Although the enteric nervous system marker calretinin is not expressed in the aganglionic gut region, de novo expression is initiated in cultured neurosphere cells isolated from aganglionic Hirschsprung bowel. Furthermore, expression of the neural markers NOS, VIP and GFAP also increased during culture of aganglionic gut neurospheres which we show can be transplantation into cultured embryonic mouse gut explants to restore a normal frequency of contractility. To determine the origin of the progenitor cells in aganglionic region, we used fluorescence-activated cell sorting to demonstrate that only p75-positive neural crest-derived cells present in the thickened nerve trunks characteristic of the aganglionic region of Hirschsprung gut gave rise to neurons in culture. The derivation of enteric nervous system progenitors in the aganglionic gut region of Hirschprung’s patients not only means that this tissue is a potential source of cells for future autologous transplantation, but it also raises the possibility of inducing the differentiation of these endogenous cells in situ to compensate for the aganglionosis. PMID:25992739

  12. Severe hemolytic transfusion reaction due to anti-D in a D+ patient with sickle cell disease

    OpenAIRE

    Ipe, Tina S.; Wilkes, Jennifer J.; Hartung, Helge D.; Westhoff, Connie M.; Chou, Stella T.; Friedman, David F.

    2015-01-01

    A 5-year-old male with sickle cell disease presented with pain, dark urine, and fatigue 10 days after a red blood cell (RBC) transfusion. Laboratory evaluation demonstrated severe anemia, blood type O+, and anti-D in the serum. Anti-D in a D+ patient led to RH genotyping which revealed homozygosity for RHD*DAU4 that encodes partial D antigen. Anti-D in this patient whose RBCs exclusively express partial D caused a delayed hemolytic transfusion reaction after exposure to D+ RBCs. The finding o...

  13. Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.

    Directory of Open Access Journals (Sweden)

    Haifeng Geng

    Full Text Available Small molecules have been identified as potential therapeutic agents for lysosomal storage diseases (LSDs, inherited metabolic disorders caused by defects in proteins that result in lysosome dysfunctional. Some small molecules function assisting the folding of mutant misfolded lysosomal enzymes that are otherwise degraded in ER-associated degradation. The ultimate result is the enhancement of the residual enzymatic activity of the deficient enzyme. Most of the high throughput screening (HTS assays developed to identify these molecules are single-target biochemical assays. Here we describe a cell-based assay using patient cell lines to identify small molecules that enhance the residual arylsulfatase A (ASA activity found in patients with metachromatic leukodystrophy (MLD, a progressive neurodegenerative LSD. In order to generate sufficient cell lines for a large scale HTS, primary cultured fibroblasts from MLD patients were transformed using SV40 large T antigen. These SV40 transformed (SV40t cells showed to conserve biochemical characteristics of the primary cells. Using a specific colorimetric substrate para-nitrocatechol sulfate (pNCS, detectable ASA residual activity were observed in primary and SV40t fibroblasts from a MLD patient (ASA-I179S cultured in multi-well plates. A robust fluorescence ASA assay was developed in high-density 1,536-well plates using the traditional colorimetric pNCS substrate, whose product (pNC acts as "plate fluorescence quencher" in white solid-bottom plates. The quantitative cell-based HTS assay for ASA generated strong statistical parameters when tested against a diverse small molecule collection. This cell-based assay approach can be used for several other LSDs and genetic disorders, especially those that rely on colorimetric substrates which traditionally present low sensitivity for assay-miniaturization. In addition, the quantitative cell-based HTS assay here developed using patient cells creates an

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

    OpenAIRE

    NM Wiles; Howard, J.

    2009-01-01

    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. ...

  15. 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)

    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.)

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

    Energy Technology Data Exchange (ETDEWEB)

    Verlhac, S. [Service de Radiologie, Centre Hospitalier Intercommunal, 94 - Creteil (France); Bernaudin, F. [Service de Pediatrie, Centre Hospitalier Intercommunal, 94 - Creteil (France); Tortrat, D. [Association Claude Bernard, 75 - Paris (France); Brugieres, P. [Service de Neuroradiologie, Hopital Henri Mondor, 94 - Creteil (France); Mage, K. [Service de Radiologie, Centre Hospitalier Intercommunal, 94 - Creteil (France); Gaston, A. [Service de Neuroradiologie, Hopital Henri Mondor, 94 - Creteil (France); Reinert, P. [Service de Pediatrie, Centre Hospitalier Intercommunal, 94 - Creteil (France)

    1995-11-01

    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.)

  17. Prospective Evaluation of Procalcitonin, Soluble Triggering Receptor Expressed on Myeloid Cells-1 and C-Reactive Protein in Febrile Patients with Autoimmune Diseases

    OpenAIRE

    Lin, Chou-Han; Hsieh, Song-Chou; Keng, Li-Ta; Lee, Ho-Sheng; Chang, Hou-Tai; Liao, Wei-Yu; Ho, Chao-Chi; Yu, Chong-Jen

    2016-01-01

    Background Both procalcitonin (PCT) and soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) have been investigated separately as indicators of infection in patients with autoimmune diseases. Our study simultaneously evaluated both PCT and sTREM-1 along with C-reactive protein (CRP) in febrile patients with autoimmune diseases. Methods Fifty-nine patients were enrolled in the study. The patients were categorized into the infection group (n = 24) or the disease flare group (n = 3...

  18. Increased Numbers of NK Cells, NKT-Like Cells, and NK Inhibitory Receptors in Peripheral Blood of Patients with Chronic Obstructive Pulmonary Disease

    Directory of Open Access Journals (Sweden)

    Ying Tang

    2013-01-01

    Full Text Available T cells and B cells participate in the pathogenesis of COPD. Currently, NK cells and NKT cells have gained increasing attention. In the present study, 19 COPD patients and 12 healthy nonsmokers (HNS were recruited, and their pulmonary function was assessed. The frequencies of CD3+ T, CD4+ T, CD8+ T, B, NK, and NKT-like cells were determined using flow cytometry. The frequencies of spontaneous and inducible IFN-γ+ or CD107a+ NK and NKT-like cells as well as activating or inhibitory receptors were also detected. The potential association of lymphocyte subsets with disease severity was further analyzed. Significantly decreased numbers of CD3+ and CD4+ T cells, and the CD4+/CD8+ ratio, but increased numbers of CD3−CD56+ NK and CD3+CD56+ NKT-like cells were observed in COPD patients compared to HNS. The frequencies of inducible IFN-γ-secreting NK and NKT-like cells were less in COPD patients. The frequencies of CD158a and CD158b on NK cells and CD158b on NKT-like cells were greater. The frequency of CD158b+ NK cells was negatively correlated with FEV1% prediction and FEV1/FVC. Our data indicate that COPD patients have immune dysfunction, and higher frequencies of inhibitory NK cells and NKT-like cells may participate in the pathogenesis of COPD.

  19. Use of continuous flow erythrocytapheresis in pregnant patients with sickle cell disease.

    Science.gov (United States)

    Morrison, J C; Morrison, F S; Floyd, R C; Roberts, W E; Hess, L W; Wiser, W L

    1991-01-01

    The role of partial prophylactic red cell exchange transfusion in the management of pregnant patients with major sickle hemoglobinopathies is unclear. Over a 10-year period, 131 pregnant patients with major hemoglobinopathies (HbS 101, HbS-C 30) were managed by the same group of physicians. Of these, 103 received partial prophylactic exchange transfusion early during prenatal care while 28 received blood only when serious complications developed (control group). Patients treated with exchange transfusion received continuous flow erythrocytapheresis on an outpatient basis. The results indicate that there were fewer crises (P = .0001), a reduction in other significant medical complications (P = .002), and a decrease in maternal hospital days (P = .05) in those receiving prophylactic transfusions compared to women in the control group. The number of preterm deliveries (P = .004), the prevalence of low birthweight infants (P = .01), and the perinatal death rate (P = .01) were significantly lower among those who were routinely transfused. Two patients developed hepatitis, five had transfusion reactions, and 11 were found to have alloantibodies among those receiving prophylactic transfusions versus one, two, and five patients, respectively, in the control group. The results indicate a benefit of this methodology in the treatment of pregnant sickle cell patients in our population. However, a national collaborative randomized study is needed to adequately address the controversy regarding the use of red cell exchange in the pregnant sickler. PMID:1816244

  20. Prognostic factors for patients with inoperable non-small cell lung cancer, limited disease

    International Nuclear Information System (INIS)

    In a prospective controlled clinical trial, 102 patients with inoperable non-small lung cancer (NSCLC), limited disease, stage II and III were treated with combination chemotherapy, cisplatin 70 mg/m2 i.v. on day one and etoposide 100 mg/m2 i.v. on day one, and etoposide 200 mg/m2 orally on days 2 and 3, or radiotherapy given in 15 fractions of 2.8 Gy with two anterior/posterior fields during a period of three weeks. The patients completed a validated self-administered questionnaire before the start of treatment that assessed their psychosocial well-being, disease-related symptoms, personal functioning, and every day activity. These subjective varibles were evaluated together with treatment modality, WHO performance status, weight loss, and stage of disease, with regard to their value in predicting survival. Univariate survival analyses were undertaken for each individual factor, median survival was calculated according to life-table analyses. A step-wise multiple regression analysis was used to measure the prognostic value of the various factors. In the univariate analysis, general symptons (p=0.0006) psychosocial well-being (p=0.0002) and stage of disease (p=0.007) were the best predictive factors. In the multiple regression analyses the subjective variables, general symptons (p<0.01) and psychosocial well-being (p<0.05) were shown to have the best predictive value for the patients' survival. (author). 20 refs.; 4 figs.; 3 tabs

  1. CTSH regulates β-cell function and disease progression in newly diagnosed type 1 diabetes patients

    DEFF Research Database (Denmark)

    Fløyel, Tina; Brorsson, Caroline; Nielsen, Lotte B;

    2014-01-01

    (CTSH) affects disease mechanisms and progression in T1D. The T allele of rs3825932 was associated with lower CTSH expression in human lymphoblastoid cell lines and pancreatic tissue. Proinflammatory cytokines decreased the expression of CTSH in human islets and primary rat β-cells, and overexpression...... of CTSH protected insulin-secreting cells against cytokine-induced apoptosis. Mechanistic studies indicated that CTSH exerts its antiapoptotic effects through decreased JNK and p38 signaling and reduced expression of the proapoptotic factors Bim, DP5, and c-Myc. CTSH overexpression also up...... between the experimental and clinical data. In line with these observations, healthy human subjects carrying the T allele have lower β-cell function, which was evaluated by glucose tolerance testing. The data provide strong evidence that CTSH is an important regulator of β-cell function during progression...

  2. Analysis of T cells bearing different isotypic forms of the gamma/delta T cell receptor in patients with systemic autoimmune diseases.

    Science.gov (United States)

    Gerli, R; Agea, E; Bertotto, A; Tognellini, R; Flenghi, L; Spinozzi, F; Velardi, A; Grignani, F

    1991-10-01

    The expression of gamma/delta T cell receptor (TCR) on peripheral blood CD3+ cells circulating in 74 patients with different systemic autoimmune diseases was evaluated. There was a significant increase in the gamma/delta T cell number only in patients with primary Sjögren's syndrome (SS) and in untreated patients with systemic lupus erythematosus (SLE). Unlike healthy subjects, a subgroup of patients with SLE and SS displayed a marked increase in gamma/delta T cells. Immunosuppressive treatment of patients with active SLE led to a normalization of the gamma/delta T cell number. Analysis of surface phenotype showed that when patient gamma/delta T cells were expanded in the peripheral blood, they were not activated but bore "memory" markers. In addition, they preferentially expressed the disulfide linked form of the TCR, except in progressive systemic sclerosis where the nondisulfide form was displayed. Serial determinations in single patients demonstrated that the gamma/delta T cell increase is a persistent immunological feature in these patient subgroups. PMID:1837314

  3. MR marrow signs of iron overload in transfusion-dependent patients with sickle cell disease

    International Nuclear Information System (INIS)

    Magnetic resonance (MR) marrow signal in the axial and appendicular skeleton of 13 transfusion-dependent and chelated pediatric patients with sickle cell anemia (SSD) was compared with marrow signal in six non-transfusion-dependent patients with SSD. Hepatic, pancreatic, and renal MR signal were also evaluated. Indication for hypertransfusion therapy was primarily prior history of stroke. Transfusion-dependent patients had evidence of iron deposition throughout the imaged marrow and the liver, despite deferoxamine chelation therapy. Non-transfusion-dependent patients did not demonstrate grossly apparent signs of iron overload. Red marrow restoration was present in the spine, pelvis, and long bones and, in some patients, within the epiphyses. Marrow edema secondary to vaso-occlusive crises was evident in the metaphyses and diaphyses of long bones in areas of both red and fatty marrow and was best seen using fat-saturated T2-weighted imaging techniques. (orig.). With 4 figs., 2 tabs

  4. MR marrow signs of iron overload in transfusion-dependent patients with sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Levin, T.L. [Department of Pediatric Radiology, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, New York, NY (United States); Sheth, S.S. [Department of Pediatrics, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, 3959 Broadway, New York, NY 10032 (United States); Hurlet, A. [Department of Pediatrics, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, 3959 Broadway, New York, NY 10032 (United States); Comerci, S.C. [Department of Pediatric Radiology, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, New York, NY (United States); Ruzal-Shapiro, C. [Department of Pediatric Radiology, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, New York, NY (United States); Piomelli, S. [Department of Pediatrics, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, 3959 Broadway, New York, NY 10032 (United States); Berdon, W.E. [Department of Pediatric Radiology, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, New York, NY (United States)

    1995-11-01

    Magnetic resonance (MR) marrow signal in the axial and appendicular skeleton of 13 transfusion-dependent and chelated pediatric patients with sickle cell anemia (SSD) was compared with marrow signal in six non-transfusion-dependent patients with SSD. Hepatic, pancreatic, and renal MR signal were also evaluated. Indication for hypertransfusion therapy was primarily prior history of stroke. Transfusion-dependent patients had evidence of iron deposition throughout the imaged marrow and the liver, despite deferoxamine chelation therapy. Non-transfusion-dependent patients did not demonstrate grossly apparent signs of iron overload. Red marrow restoration was present in the spine, pelvis, and long bones and, in some patients, within the epiphyses. Marrow edema secondary to vaso-occlusive crises was evident in the metaphyses and diaphyses of long bones in areas of both red and fatty marrow and was best seen using fat-saturated T2-weighted imaging techniques. (orig.). With 4 figs., 2 tabs.

  5. Orbital wall infarction mimicking periorbital cellulitis in a patient with sickle cell disease

    International Nuclear Information System (INIS)

    Orbital wall infarction and subperiosteal haematomas are unusual manifestations of sickling disorders. Here we report an 11-year-old girl with sickle cell anaemia having multiple skull infarctions including the orbital bony structures associated with subperiosteal haematomas. The diagnosis was made by MRI, which showed bone marrow changes and associated haemorrhagic collections. The patient was successfully managed without surgical intervention. (orig.)

  6. Orbital wall infarction mimicking periorbital cellulitis in a patient with sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Ozkavukcu, Esra; Fitoz, Suat; Erden, Ilhan [Ankara University School of Medicine, Department of Radiology, Ankara (Turkey); Yagmurlu, Banu [Kirikkale University School of Medicine, Department of Radiology, Kirikkale (Turkey); Ciftci, Ergin [Ankara University School of Medicine, Department of Paediatric Infectious Diseases, Ankara (Turkey); Ertem, Mehmet [Ankara University School of Medicine, Department of Paediatric Haematology, Ankara (Turkey)

    2007-04-15

    Orbital wall infarction and subperiosteal haematomas are unusual manifestations of sickling disorders. Here we report an 11-year-old girl with sickle cell anaemia having multiple skull infarctions including the orbital bony structures associated with subperiosteal haematomas. The diagnosis was made by MRI, which showed bone marrow changes and associated haemorrhagic collections. The patient was successfully managed without surgical intervention. (orig.)

  7. Adiponectin levels are associated with the number and activity of circulating endothelial progenitor cells in patients with coronary artery disease

    Institute of Scientific and Technical Information of China (English)

    Zhi-qiang YING; Dan-dan ZHONG; Geng XU; Miao-yan CHEN; Qing-yu CHEN

    2009-01-01

    Objective: To study the relationship between plasma adiponectin concentration and the functional activities of circulating endothelial progenitor cells (EPCs) in patients with coronary artery disease (CAD). Methods: Circulating EPCs were enumerated as AC133+/KDR+ cells via flow cytometry and identified by co-staining with Dii-acLDL and fluorescein isothiocy-anate (FITC)-conjugated lectin under a fluorescent microscope. The migratory capacity of EPCs was measured by modified Boyden chamber assay. Adhesion capacity was performed to count adherent cells after replating EPCs on six-well culture dishes coated with fibronectin. Results: The number of circulating EPCs (AC133+/KDR+ cells) decreased significantly in CAD patients, compared with control subjects [(74.2±12.3) vs (83.5±12.9) cells/ml blood, P<0.0\\]. In addition, the number of EPCs also decreased in CAD patients after ex vivo cultivation [(54.4±8.6) vs (71.9±11.6) EPCs/field, P<0.01]. Both circulating EPCs and differentiated EPCs were positively correlated with plasma adiponectin concentration. The functional activities of EPCs from CAD patients, such as migratory and adherent capacities, were also impaired, compared with control subjects, and positively correlated with plasma adiponectin concentration. Conclusion: The study demonstrates that the impairment of the number and functional activities of EPCs in CAD patients is correlated with their lower plasma adiponectin concentrations.

  8. Sickle cell disease complications

    Directory of Open Access Journals (Sweden)

    Ersi Voskaridou

    2014-12-01

    Full Text Available Sickle cell disease (SCD is an inherited, lifelong condition. The sickle mutation consists a single nucleotide change (GAT->GTT in the sixth codon of exon 1 of the β-globin gene coding for the β-globin polypeptide of hemoglobin (Hb (a2β2. This change results in replacement of the wild type glutamic acid residue by a valine residue in β-globin chain and the formation of the sickle Hb (HbS in homozygotes for this mutation. Heterozygotes live a normal life. In SCD patients, sickle erythrocytes are rigid with decreased deformability and reduced life span resulting in hemolysis, vaso-occlusive disease, vasculopathy and subsequent inflammation and end organ damage. Sickle cell disease affects millions of people worldwide. Today, with proper health care, many SCD patients have a good quality of life (QoL and are in fairly good health most of the time. These people can live up to their forties or fifties, or longer. Despite the ‘common’ underlying genetic basis and a similar pathophysiology, patients with SCD present a highly variable clinical phenotype due to Single Nucleotide Polymorphisms (SNPs variability throughout the genome. Patients with SCD are at high risk for developing multisystem acute and chronic complications associated with significant morbidity and mortality.

  9. Correlation of transcranial Doppler ultrasonography with MRI and MRA in the evaluation of sickle cell disease patients with prior stroke

    International Nuclear Information System (INIS)

    We prospectively evaluated a group of patients with sickle cell disease and a clinical history of prior stroke, comparing transcranial Doppler sonography (TCD) to both magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) to determine its efficacy for the detection of flow abnormalities associated with prior cerebral infarction. Using MRI as the standard examination, there was 94 % sensitivity and 30 % specificity, and using MRA as the standard examination, there was 91 % sensitivity and 22 % specificity. We concur with other reports that the transcranial Doppler examination is a highly sensitive study. In our group of sickle cell disease patients with prior stroke, TCD reliably detected flow abnormalities that correlated to areas of prior cerebral infarction. (orig.)

  10. Host cell reactivation of sunlamp-exposed adenovirus in fibroblasts from patients with Bloom's syndrome, ataxia telangiectasia, and Huntington's disease

    International Nuclear Information System (INIS)

    In this study, a sensitive host cell reactivation (HCR) technique was used to examine the repair capacity for DNA damaged by sunlamp exposure in fibroblast strains derived from 5 normal individuals and 8 patients representing three different diseases associated with DNA repair deficiencies. Adenovirus type 2 (Ad 2) was exposed to radiation from a GE 275 W sunlamp and subsequently used to infect fibroblast monolayers. At 48 hr after infection, cells were scored for the presence of viral structural antigens (Vag) using indirect immunofluorescent staining. Previous reports using this technique showed a substantial reduction in the HCR of sunlamp-exposed Ad 2 for infection of excision repair deficient fibroblasts from patients with xeroderma pigmentosum. In contrast, the HCR of Vag synthesis for sunlamp-exposed Ad 2 was in the normal range for the three ataxia telangiectasia, three Bloom's syndrome, and two Huntington's disease fibroblasts strains

  11. Extent of silent cerebral infarcts in adult sickle-cell disease patients on magnetic resonance imaging: is there a correlation with the clinical severity of disease?

    Directory of Open Access Journals (Sweden)

    Ekaterini Solomou

    2013-02-01

    Full Text Available The aim of this paper is to correlate the extent of silent cerebral infarcts (SCIs on magnetic resonance imaging (MRI with the clinical severity of sickle cell disease (SCD in adult patients. Twenty-four consecutive adult asymptomatic SCD patients (11 male and 13 female with a mean age of 38.4 years (range 20-59 were submitted to brain MRI on a 1 Tesla Gyroscan Intera, Philips MR scanner with a dedicated head coil. The protocol consisted of TSE T2-weighted and FLAIR images on the axial and coronal planes. MRI readings were undertaken by two radiologists and consensus readings. Patients were compound heterozygotes (HbS/β-thal. The extent of SCIs was classified from 0-2 with 0 designating no lesions. Clinical severity was graded as 0-2 by the hematologist, according to the frequency and severity of vaso-occlusive crises. There was no statistically significant correlation between the severity of clinical disease and the extent of SCIs on MR imaging. The extent of SCI lesions did not differ statistically between younger and older patients. Patients receiving hydroxyurea had no statistically significant difference in the extent of SCI lesions. The extent of SCIs in heterozygous (HbS/β-thal SCD patients is not age related and may be quite severe even in younger (<38.4 years patients. However the extent of SCIs is not correlated with the severity of clinical disease.

  12. Regulatory Cell Populations in Relapsing-Remitting Multiple Sclerosis (RRMS) Patients: Effect of Disease Activity and Treatment Regimens.

    Science.gov (United States)

    Rodi, Maria; Dimisianos, Nikolaos; de Lastic, Anne-Lise; Sakellaraki, Panagiota; Deraos, George; Matsoukas, John; Papathanasopoulos, Panagiotis; Mouzaki, Athanasia

    2016-01-01

    Multiple sclerosis (MS) is a demyelinating disease of the central nervous system (CNS) of autoimmune etiology that results from an imbalance between CNS-specific T effector cells and peripheral suppressive mechanisms mediated by regulatory cells (RC). In this research, we collected blood samples from 83 relapsing remitting MS (RRMS) patients and 45 healthy persons (HC), to assess the sizes of their RC populations, including CD4⁺CD25(high)Foxp3⁺ (nTregs), CD3⁺CD4⁺HLA(-)G⁺, CD3⁺CD8⁺CD28(-), CD3⁺CD56⁺, and CD56(bright) cells, and how RC are affected by disease activity (acute phase or remission) and types of treatment (methylprednisolone, interferon, or natalizumab). In addition, we isolated peripheral blood mononuclear cells (PBMC) and cultured them with peptides mapping to myelin antigens, to determine RC responsiveness to autoantigens. The results showed decreased levels of nTregs in patients in the acute phase ± methylprednisolone and in remission + natalizumab, but HC levels in patients in remission or receiving interferon. Patients + interferon had the highest levels of CD3⁺CD4⁺HLA(-)G⁺ and CD3⁺CD8⁺CD28(-) RC, and patients in the acute phase + methylprednisolone the lowest. Patients in remission had the highest levels of CD3⁺CD56⁺, and patients in remission + natalizumab the highest levels of CD56(bright) cells. Only nTregs responded to autoantigens in culture, regardless of disease activity or treatment. The highest suppressive activity was exhibited by nTregs from patients in remission. In conclusion, in RRMS disease activity and type of treatment affect different RC populations. nTregs respond to myelin antigens, indicating that it is possible to restore immunological tolerance through nTreg induction. PMID:27571060

  13. Reactive oxygen species–independent activation of the IL-1β inflammasome in cells from patients with chronic granulomatous disease

    OpenAIRE

    Van De Veerdonk, Frank L.; Smeekens, Sanne P.; Joosten, Leo A. B.; Kullberg, Bart Jan; Dinarello, Charles A.; van der Meer, Jos W.M.; Netea, Mihai G.

    2010-01-01

    Humans with chronic granulomatous diseases (CGDs) due to mutations in p47-phox have defective NADPH activity and thus cannot generate NADPH-dependent reactive oxygen species (ROS). The role of ROS in inflammation is controversial; some in vitro studies suggest that ROS are crucial for secretion of IL-1β via inflammasome activation, whereas mice defective for ROS and patients with CGD have a proinflammatory phenotype. In this study, we evaluated activation of the IL-1β inflammasome in cells fr...

  14. Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.

    OpenAIRE

    Fink, J K; Correll, P H; Perry, L K; Brady, R O; S. Karlsson

    1990-01-01

    Retroviral gene transfer has been used successfully to correct the glucocerebrosidase (GCase) deficiency in primary hematopoietic cells from patients with Gaucher disease. For this model of somatic gene therapy, we developed a high-titer, amphotropic retroviral vector designated NTG in which the human GCase gene was driven by the mutant polyoma virus enhancer/herpesvirus thymidine kinase gene (tk) promoter (Py+/Htk). NTG normalized GCase activity in transduced Gaucher fibroblasts and efficien...

  15. Monocyte/macrophage and T-cell infiltrates in peritoneum of patients with ovarian cancer or benign pelvic disease

    OpenAIRE

    Ma Qing; Mueller Peter; Bassett Roland L; Patenia Rebecca; Deavers Michael; Wang Xipeng; Wang Ena; Freedman Ralph S

    2006-01-01

    Abstract Background We previously showed that tumor-free peritoneum of patients with epithelial ovarian cancer (EOC) exhibited enhanced expression of several inflammatory response genes compared to peritoneum of benign disease. Here, we examined peritoneal inflammatory cell patterns to determine their concordance with selected enhanced genes. Methods Expression patterns of selected inflammatory genes were mined from our previously published data base. Bilateral pelvic peritoneal and subjacent...

  16. Spur cell anaemia and hepatic iron stores in patients with alcoholic liver disease undergoing orthotopic liver transplantation

    OpenAIRE

    Pascoe, A; Kerlin, P; Steadman, C; Clouston, A; Jones, D.; Powell, L; Jazwinska, E; Lynch, S; Strong, R

    1999-01-01

    BACKGROUND—Following orthotopic liver transplantation (OLT) histological examination of explant livers from patients with alcoholic liver disease (ALD) sometimes shows extensive iron deposits in a distribution suggestive of homozygous haemochromatosis.
AIMS—To use haemochromatosis gene (HFE) assays to distinguish between ALD with notable siderosis and hereditary haemochromatosis. To evaluate the possible influence of spur cell haemolytic anaemia on hepatic iron loading.
PATIENTS—Thirty seven ...

  17. Exome Sequencing of Cell-Free DNA from Metastatic Cancer Patients Identifies Clinically Actionable Mutations Distinct from Primary Disease.

    Directory of Open Access Journals (Sweden)

    Timothy M Butler

    Full Text Available The identification of the molecular drivers of cancer by sequencing is the backbone of precision medicine and the basis of personalized therapy; however, biopsies of primary tumors provide only a snapshot of the evolution of the disease and may miss potential therapeutic targets, especially in the metastatic setting. A liquid biopsy, in the form of cell-free DNA (cfDNA sequencing, has the potential to capture the inter- and intra-tumoral heterogeneity present in metastatic disease, and, through serial blood draws, track the evolution of the tumor genome. In order to determine the clinical utility of cfDNA sequencing we performed whole-exome sequencing on cfDNA and tumor DNA from two patients with metastatic disease; only minor modifications to our sequencing and analysis pipelines were required for sequencing and mutation calling of cfDNA. The first patient had metastatic sarcoma and 47 of 48 mutations present in the primary tumor were also found in the cell-free DNA. The second patient had metastatic breast cancer and sequencing identified an ESR1 mutation in the cfDNA and metastatic site, but not in the primary tumor. This likely explains tumor progression on Anastrozole. Significant heterogeneity between the primary and metastatic tumors, with cfDNA reflecting the metastases, suggested separation from the primary lesion early in tumor evolution. This is best illustrated by an activating PIK3CA mutation (H1047R which was clonal in the primary tumor, but completely absent from either the metastasis or cfDNA. Here we show that cfDNA sequencing supplies clinically actionable information with minimal risks compared to metastatic biopsies. This study demonstrates the utility of whole-exome sequencing of cell-free DNA from patients with metastatic disease. cfDNA sequencing identified an ESR1 mutation, potentially explaining a patient's resistance to aromatase inhibition, and gave insight into how metastatic lesions differ from the primary tumor.

  18. Osteoblastic response as a healing reaction to chemotherapy mimicking progressive disease in patients with small cell lung cancer

    International Nuclear Information System (INIS)

    The osteoblastic response (OR) phenomenon as a healing reaction during effective chemotherapy - defined by the appearance of new osteoblastic bone lesions while disease response in other tumor sites was well documented - has previously been described for breast and prostate cancer. The purpose of this study was to investigate this phenomenon that could erroneously be interpreted as progressive disease in patients with small cell lung cancer (SCLC) and to establish guidelines for interpretation of follow-up computed tomography (CT) examinations in this situation. Twenty-four patients with newly diagnosed SCLC and bone metastases were retrospectively included in this study. The characteristics of bone lesions in CT examinations were correlated with bone scintigraphy and magnetic resonance imaging, if available. In target lesions the CT density quantified in Hounsfield units (HU) was evaluated at baseline and during follow-up. New osteoblastic lesions occurred during follow-up in 17 of 24 patients. OR was proven in 4 patients and considered most likely in 11 patients; mean density increase in target lesions was 153 HU. The study indicates that osteoblastic response as a healing reaction seems to occur in the majority of patients with SCLC and bone metastases and should not be misinterpreted as progressive disease. (orig.)

  19. Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease

    International Nuclear Information System (INIS)

    Retroviral gene transfer has been used successfully to correct the glucocerebrosidase (GCase) deficiency in primary hematopoietic cells from patients with Gaucher disease. For this model of somatic gene therapy, the authors developed a high-titer, amphotropic retroviral vector designated NTG in which the human GCase gene was driven by the mutant polyoma virus enhancer/herpesvirus thymidine kinase gene (tk) promoter (Py+/Htk). NTG normalized GCase activity in transduced Gaucher fibroblasts and efficiently infected human monocytic and erythroleukemic cell lines. RNA blot-hybridization (Northern blot) analysis of these hemaptopoietic cell lines showed unexpectedly high-level expression from the Moloney murine leukemia virus long terminal repeat (Mo-MLV LTR) and levels of Py+/Htk enhancer/promoter-initiated human GCase RNA that approximated endogenous GCase RNA levels. Furthermore, NTG efficiently infected human hematopoietic progenitor cells. Detection of the provirus in approximately one-third of NTG-infected progenitor colonies that had not been selected in G418-containing medium indicates that relative resistance to G418 underestimated the actual gene transfer efficiency. Northern blot analysis of NTG-infected, progenitor-derived cells showed expression from both the Mo-MLV LTR and the Py+/Htk enhancer/promoter. NTG-transduced hematopoietic progenitor cells from patients with Gaucher disease generated progeny in which GCase activity has been normalized

  20. Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease

    Energy Technology Data Exchange (ETDEWEB)

    Fink, J.K.; Correll, P.H.; Perry, L.K.; Brady, R.O.; Karlsson, S. (National Institutes of Health, Bethesda, MD (USA))

    1990-03-01

    Retroviral gene transfer has been used successfully to correct the glucocerebrosidase (GCase) deficiency in primary hematopoietic cells from patients with Gaucher disease. For this model of somatic gene therapy, the authors developed a high-titer, amphotropic retroviral vector designated NTG in which the human GCase gene was driven by the mutant polyoma virus enhancer/herpesvirus thymidine kinase gene (tk) promoter (Py{sup +}/Htk). NTG normalized GCase activity in transduced Gaucher fibroblasts and efficiently infected human monocytic and erythroleukemic cell lines. RNA blot-hybridization (Northern blot) analysis of these hemaptopoietic cell lines showed unexpectedly high-level expression from the Moloney murine leukemia virus long terminal repeat (Mo-MLV LTR) and levels of Py{sup +}/Htk enhancer/promoter-initiated human GCase RNA that approximated endogenous GCase RNA levels. Furthermore, NTG efficiently infected human hematopoietic progenitor cells. Detection of the provirus in approximately one-third of NTG-infected progenitor colonies that had not been selected in G418-containing medium indicates that relative resistance to G418 underestimated the actual gene transfer efficiency. Northern blot analysis of NTG-infected, progenitor-derived cells showed expression from both the Mo-MLV LTR and the Py{sup +}/Htk enhancer/promoter. NTG-transduced hematopoietic progenitor cells from patients with Gaucher disease generated progeny in which GCase activity has been normalized.

  1. The Fc Receptor Polymorphisms and Expression of Neutrophil Activation Markers in Patients with Sickle Cell Disease from Western India

    Directory of Open Access Journals (Sweden)

    Harshada K. Kangne

    2013-01-01

    Full Text Available Objective. Sickle cell disease has variable clinical manifestations. Activation of neutrophils plays an important role in the initiation and propagation of vaso occlusive crises which can be analysed by determining the expression of neutrophil antigens such as CD16, CD32, and CD62L. The common FcγR polymorphisms (FcγRIIA and FcγRIIIB are considered to influence clinical presentation. This study focuses on distribution of FcγR polymorphisms and their association with neutrophil activity among the patients from western India. Methods. In this paper 127 sickle cell anemia patients and 58 patients with sickle-β-thalassemia (median age 12±8.58 years with variable clinical phenotypes along with 175 normals were investigated. FcγRs polymorphisms were analysed by RFLP and AS-PCR. Activation of neutrophils was measured by flow cytometry. Results. The genotypic frequency of the H/R genotype of FcγRIIA and the NA1/NA1 genotype of FcγRIIIB was significantly decreased in patients compared to normals (P-0.0074, P-0.0471, resp.. We found a significant difference in the expression of CD32 and CD62L among the patients as against normals. A significantly higher expression of CD32 was seen in the milder patients with the H/H genotype (P-0.0231, whereas the expression of CD16 was higher in severe patients with the NA2/NA2 genotype (P-0.0312. Conclusion. The two FcγR polymorphisms had significant association with variable phenotypes of sickle cell disease. The expression of CD62L decreased in our patients indicating activation of neutrophils.

  2. Programmed cell death 5 correlates with disease activity and interleukin-17 in serum and synovial fluid of rheumatoid arthritis patients

    Institute of Scientific and Technical Information of China (English)

    WANG Jun-feng; GUAN Zhen-peng; ZHANG Shao-long; PEI Zheng; CHEN Ying-yu; PAN Huan

    2013-01-01

    Background Programmed cell death 5 (PDCD5) is a novel apoptotic regulatory gene that promotes apoptosis in various tumor cells.Studies have shown that PDCD5 accelerates the apoptosis of synoviocytes in vitro,implying a potential role in rheumatoid arthritis (RA) pathogenesis.This study examined the expression of PDCD5 in serum and synovial fluid of RA patients,its effect on the expression of inflammatory cytokine,interleukin-17 (IL-17),and the assessment of disease activity in RA.Methods PDCD5 and IL-17 levels in serum and synovial fluid from 18 patients with RA and 22 patients with osteoarthritis (OA) were detected using enzyme-linked immunosorbent assay (ELISA).Concentrations of serum PDCD5 in 40 healthy people were also detected as controls.As disease activity indices,C-reactive protein (CRP),erythrocyte sedimentation rate (ESR),rheumatoid factor (RF),and X-ray grading scale were also evaluated.Results Serum and synovial fluid PDCD5 levels in RA patients were significantly higher than those in OA and healthy controls.Serum PDCD5 level was inversely correlated to CRP and ESR,and was significantly higher in the RF negative group than in the positive group.PDCD5 level was also negatively correlated with IL-17 levels both in serum and synovial fluid of RA patients.However,differences in synovial fluid PDCD5 level from RA patients at different Larsen stages were not detectable.Conclusions PDCD5 affects RA pathogenesis.Insufficient apoptosis of fibroblast-like synoviocytes and inflammatory cells in RA could increase the expression of PDCD5 protein.As PDCD5 levels correlated negatively with disease activity indices and IL-17 level,PDCD5 could become a target in the diagnosis and treatment of RA.

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

    International Nuclear Information System (INIS)

    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 Sβ0 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 Sβ0 patient and impaired splenic function in five SS patients and six Sβ0 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.)

  4. 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.)

  5. Spontaneous increase of transforming growth factor beta production by bronchoalveolar mononuclear cells of patients with systemic autoimmune diseases affecting the lung.

    OpenAIRE

    Deguchi, Y.

    1992-01-01

    The spontaneous increase in the transcription of the transforming growth factor beta (TGF beta) gene in bronchoalveolar mononuclear cells of patients with autoimmune diseases affecting the lung has been shown by northern blot assay and a nuclear run on transcription assay. Transcription of the TGF beta gene in bronchoalveolar mononuclear cells of patients with autoimmune diseases affecting the lung was increased 10 times compared with normal healthy subjects or patients with bronchial asthma ...

  6. Sickle Cell Disease

    Science.gov (United States)

    ... sickle cell disease? Sickle cell disease, also called sickle cell anemia, is a hereditary condition (which means it runs ... or blocks blood and oxygen reaching nearby tissues. Sickle cell disease ... the whites of the eyes) Anemia (the decreased ability of the blood to carry ...

  7. Severe hemolytic transfusion reaction due to anti-D in a D+ patient with sickle cell disease.

    Science.gov (United States)

    Ipe, Tina S; Wilkes, Jennifer J; Hartung, Helge D; Westhoff, Connie M; Chou, Stella T; Friedman, David F

    2015-03-01

    A 5-year-old male with sickle cell disease presented with pain, dark urine, and fatigue 10 days after a red blood cell (RBC) transfusion. Laboratory evaluation demonstrated severe anemia, blood type O+, and anti-D in the serum. Anti-D in a D+ patient led to RH genotyping, which revealed homozygosity for RHD*DAU4 that encodes partial D antigen. Anti-D in this patient whose RBCs exclusively express partial D caused a delayed hemolytic transfusion reaction after exposure to D+ RBCs. The finding of anti-D in a D+patient should be investigated by molecular methods to help distinguish an alloantibody from an autoantibody. PMID:25171447

  8. 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.

  9. Differential expression of NK receptors CD94 and NKG2A by T cells in rheumatoid arthritis patients in remission compared to active disease.

    LENUS (Irish Health Repository)

    Walsh, Ceara E

    2011-01-01

    TNF inhibitors (TNFi) have revolutionised the treatment of rheumatoid arthritis (RA). Natural killer (NK) cells and Natural Killer Cell Receptor+ T (NKT) cells comprise important effector lymphocytes whose activity is tightly regulated through surface NK receptors (NKRs). Dysregulation of NKRs in patients with autoimmune diseases has been shown, however little is known regarding NKRs expression in patients with TNFi-induced remission and in those who maintain remission vs disease flare following TNFi withdrawal.

  10. Decreased numbers of peripheral blood dendritic cells in patients with coronary artery disease are associated with diminished plasma Flt3 ligand levels and impaired plasmacytoid dendritic cell function

    OpenAIRE

    Van Brussel, Ilse; Van Vré, Emily A; De Meyer, Guido RY; Vrints, Christiaan J.; Bosmans, Johan M; Bult, Hidde

    2011-01-01

    Abstract Background: We investigate whether activation of circulating DCs or levels of FMS-like tyrosine kinase 3 ligand (Flt3L) and granulocyte-macrophage colony stimulating factor (GM-CSF), haematopoietic growth factors important for dendritic cell (DC) differentiation, could account for reduced blood DC numbers in coronary artery disease (CAD) patients. Methods: Concentrations of Flt3L and GM-CSF were measured in plasma from CAD patients (n=15) and controls (n=12). Frequenc...

  11. Adherent Invasive Escherichia coli Strains from Patients with Crohn's Disease Survive and Replicate within Macrophages without Inducing Host Cell Death

    OpenAIRE

    Glasser, Anne-Lise; Boudeau, Jerome; Barnich, Nicolas; Perruchot, Marie-Helene; Colombel, Jean-Frederic; Darfeuille-Michaud, Arlette

    2001-01-01

    Escherichia coli strains recovered from Crohn's disease (CD) lesions are able to adhere to and invade cultured intestinal epithelial cells. We analyzed the behavior within macrophages of adherent invasive E. coli (AIEC) strains isolated from patients with CD. All the 15 AIEC strains tested were able to replicate extensively within J774-A1 cells: the numbers of intracellular bacteria increased 2.2- to 74.2-fold at 48 h over that at 1 h postinfection. By use of murine peritoneal macrophages and...

  12. [Perception and assessment of pain by caregiver and adolescent with sickle cell disease: The impact of the patient's anxiety].

    Science.gov (United States)

    Josset-Raffet, E; Duparc-Alegria, N; Thiollier, A-F; Dugue, S; Faye, A; Ithier, G; Holvoet-Vermaut, L; Missud, F; Abdoul, H; Benkerrou, M

    2016-02-01

    Pain is the main symptom in sickle cell disease and is a major issue in its management. Its complexity often makes assessment difficult for both patients and caregivers. This study looks for a link between anxiety in children with sickle cell disease at the beginning of their hospital stay and the difficulties experienced by caregivers to assess their pain. Forty teenagers hospitalized for a vaso-occlusive crisis were included in this prospective study. To determine which patients were "difficult to assess," a self-assessment of pain combined with a nursing assessment were proposed to patients (NS [numerical scale] and FLACC [Face Legs Activity Cry Consolability]). Feedback from specialized physicians was collected. In this study, no objective criteria allowed us to determine whether patients were "difficult to assess." At the beginning of the hospital stay, self-assessment for pain and nurse assessment with the NS matched. In this context, the FLACC scale did not assist in determining the pain score accurately. Patients identified as difficult to assess by physicians are more anxious than others. PMID:26702488

  13. Exome Sequencing of Cell-Free DNA from Metastatic Cancer Patients Identifies Clinically Actionable Mutations Distinct from Primary Disease

    Science.gov (United States)

    Butler, Timothy M.; Johnson-Camacho, Katherine; Peto, Myron; Wang, Nicholas J.; Macey, Tara A.; Korkola, James E.; Koppie, Theresa M.; Corless, Christopher L.; Gray, Joe W.; Spellman, Paul T.

    2015-01-01

    The identification of the molecular drivers of cancer by sequencing is the backbone of precision medicine and the basis of personalized therapy; however, biopsies of primary tumors provide only a snapshot of the evolution of the disease and may miss potential therapeutic targets, especially in the metastatic setting. A liquid biopsy, in the form of cell-free DNA (cfDNA) sequencing, has the potential to capture the inter- and intra-tumoral heterogeneity present in metastatic disease, and, through serial blood draws, track the evolution of the tumor genome. In order to determine the clinical utility of cfDNA sequencing we performed whole-exome sequencing on cfDNA and tumor DNA from two patients with metastatic disease; only minor modifications to our sequencing and analysis pipelines were required for sequencing and mutation calling of cfDNA. The first patient had metastatic sarcoma and 47 of 48 mutations present in the primary tumor were also found in the cell-free DNA. The second patient had metastatic breast cancer and sequencing identified an ESR1 mutation in the cfDNA and metastatic site, but not in the primary tumor. This likely explains tumor progression on Anastrozole. Significant heterogeneity between the primary and metastatic tumors, with cfDNA reflecting the metastases, suggested separation from the primary lesion early in tumor evolution. This is best illustrated by an activating PIK3CA mutation (H1047R) which was clonal in the primary tumor, but completely absent from either the metastasis or cfDNA. Here we show that cfDNA sequencing supplies clinically actionable information with minimal risks compared to metastatic biopsies. This study demonstrates the utility of whole-exome sequencing of cell-free DNA from patients with metastatic disease. cfDNA sequencing identified an ESR1 mutation, potentially explaining a patient’s resistance to aromatase inhibition, and gave insight into how metastatic lesions differ from the primary tumor. PMID:26317216

  14. [Contractile reaction of the myocardium of patients with heart diseases to chemical scarification of cell membranes].

    Science.gov (United States)

    Shumakov, V I; Tsyv'ian, P B; Markhasin, V S; Shtengol'd, E Sh

    1978-03-01

    Strips of the myocardium from the auricula atria of patients suffering from mitral stenosis (MS) and septal defects of the heart (SDH) removed during the operation were treated with ethylenediaminetetraacetic acid (DETA)--3mM--to increase the cell membrane permeability (scarification). The mechanical response of the contractile proteins to the change in the Ca2+ was recorded in the ethylene-hexaaminetetraacetic acid (EHTA)--3mM--against the background of increased membrane permeability to the Ca-EHTA complex permitting to regulate Ca2+ concentration in myofibrillae from 10(-9) to 10(-4)M. As shown, with the same threshold concentrations (5.10(-8)M) and saturation concentrations (10(-4)M) of Ca2+ the strips from the patients with MS developed the maximal tension per cross section unit of the strip half as great as the preparations from patients with SDH, this indicating a possible affection of the contractile proteins in the hearts of patients with MS. The ratio between the tension amplitudes under conditions of a complete calcium activation of the contractile proteins and a single isometric contraction for the preparations obtained from the patients with MS was 8 to 10, and with SDH--from 4 to 5. It is supposed that this was the result of more pronounced changes in the apparatus of electromechanical conjugation of the myocardium of patients suffering from MS. PMID:96886

  15. Natural history of neck disease in patients with squamous cell carcinoma of oropharynx and pharyngolarynx

    International Nuclear Information System (INIS)

    1666 patients with squamous cell carcinoma of oropharynx and pharyngolarynx, were evaluated on admission regarding the characteristic metastases patterns to their cervical lymph nodes. Preliminary therapeutic implications are derived from this nodal distribution. Comparisons are established between the 1978 UICC and 1976 AJC classifications, showing a good correlation despite multiple differences in staging criteria. It is shown that assessment combining both the multiplicity and the volume of cervical metastases allows to evaluate more accurately the aggressiveness of the primary. (Auth.)

  16. D-D dimer levels in patients with sickle cell disease during bone pain crises and in the steady state

    Directory of Open Access Journals (Sweden)

    Fakunle EE

    2012-05-01

    Full Text Available Eyitayo Emmanuel Fakunle,1 Kapoona Iwara Ibiang Eteng,2 Wuraola Adebola Shokunbi21Department of Pathology, King Edward VII Memorial Hospital, Bermuda; 2Department of Hematology, University College Hospital, Ibadan, NigeriaObjective: To determine the presence of ongoing thrombosis by measuring the D-D dimer levels in bone pain crises (BPCs and in the steady state of patients with sickle cell disease, comparing these levels with those in individuals with normal hemoglobin (HbAA in southwest Nigeria.Study design, patients, and methods: The study design involved 38 patients with homozygous sickle cell anemia (HbSS and 78 adults with the HbAA phenotype, seen at the Hematology Day Care and Accident and Emergency units of the University College Hospital, Ibadan, Nigeria. The TintElize kit was used to quantitatively determine human D-D dimer levels in the plasma with enzyme immunoassay.Results: The mean D-D dimer level measured of the 78 individuals with HbAA was 73.59 ng/mL. The mean D-D dimer level of the patients with HbSS during BPCs was 4002.40 ng/mL, while the mean level in the same patients in the steady state measured 6 weeks after their BPCs, with no other painful crisis episode before the sample was collected, was 1320.00 ng/mL.Conclusion: This study demonstrated a significant increase in the D-D dimer levels of patients with HbSS in the steady state, when compared with those of individuals with HbAA of the same age and sex distribution. There was also an approximate threefold increase in the D-D dimer levels in the same patients with HbSS during BPCs. This confirms the activation of coagulation and fibrinolytic systems in patients with HbSS in the steady state, which is further escalated during BPCs. A multicenter study on the use of anticoagulants in BPCs in patients with sickle cell disease is required.Keywords: anticoagulant, dimer, sickle cell disease, BPC, Nigeria, chronic hemolytic anemia

  17. Sickle Cell Disease Quiz

    Science.gov (United States)

    ... About Us Information For... Media Policy Makers Sickle Cell Disease Quiz Language: English Español (Spanish) Recommend on ... True or False: Only African Americans get sickle cell disease. A True B False 2. True or ...

  18. Intrathoracic manifestations of sickle cell disease

    International Nuclear Information System (INIS)

    A retrospective analysis of 50 patients with sickle cell disease was performed. The majority of patients was admitted because of sickle cell crisis, pneumonia or congestive heart failure. Global casdiomegaly, pulmonary vascular engorgement, pneumonia and infiltrative lung parenchymal abnormalities were encountered. Our study shows a very high prevalence of intrathoracic abnormalities in patients afflicted with sickle cell disease. (orig.)

  19. Autologous bone marrow mononuclear cell transplantation in patients with decompensated alcoholic liver disease: a randomized controlled trial.

    Directory of Open Access Journals (Sweden)

    Laurent Spahr

    Full Text Available OBJECTIVE: Impaired liver regeneration is associated with a poor outcome in patients with decompensated alcoholic liver disease (ALD. We assessed whether autologous bone marrow mononuclear cell transplantation (BMMCT improved liver function in decompensated ALD. DESIGN: 58 patients (mean age 54 yrs; mean MELD score 19, all with cirrhosis, 81% with alcoholic steatohepatitis at baseline liver biopsy were randomized early after hospital admission to standard medical therapy (SMT alone (n = 30, including steroids in patients with a Maddrey's score ≥32, or combined with G-CSF injections and autologous BMMCT into the hepatic artery (n = 28. Bone marrow cells were harvested, isolated and reinfused the same day. The primary endpoint was a ≥3 points decrease in the MELD score at 3 months, corresponding to a clinically relevant improvement in liver function. Liver biopsy was repeated at week 4 to assess changes in Ki67+/CK7+ hepatic progenitor cells (HPC compartment. RESULTS: Both study groups were comparable at baseline. After 3 months, 2 and 4 patients died in the BMMCT and SMT groups, respectively. Adverse events were equally distributed between groups. Moderate alcohol relapse occurred in 31% of patients. The MELD score improved in parallel in both groups during follow-up with 18 patients (64% from the BMMCT group and 18 patients (53% from the SMT group reaching the primary endpoint (p = 0.43 (OR 1.6, CI 0.49-5.4 in an intention to treat analysis. Comparing liver biopsy at 4 weeks to baseline, steatosis improved (p<0.001, and proliferating HPC tended to decrease in both groups (-35 and -33%, respectively. CONCLUSION: Autologous BMMCT, compared to SMT is a safe procedure but did not result in an expanded HPC compartment or improved liver function. These data suggest either insufficient regenerative stimulation after BMMCT or resistance to liver regenerative drive in patients with decompensated alcoholic cirrhosis. TRIAL REGISTRATION

  20. Diseases of Elderly Patient

    Directory of Open Access Journals (Sweden)

    Eulália Maria Martins da SILVA

    2007-03-01

    Full Text Available Introduction: With the population aging, the number of chronic and degenerative illnesses, own of the old age, it will appear more frequently. Objective: The objective of this study was to do a literature revision in order to approach the illnesses that more they attack the patients of the third age (from the chronic diseases even the degenerative chronic diseases. Para that, a description will be accomplished as the concept and the signs and symptoms of the illnesses observed more frequently in the senior patients that will be depression, stress, loss of the memory, aterosclerose, osteoporosis, arthritis reumatóide and disorder temporomandibular, arterial hypertension, vascular diseases, heart diseases, obesity, diabetes mellitus, urinary incontinence, hearing and visual disturbances, disease of Parkinson and still the disease of Alzheimer. Conclusion: Based on the literature revision, we ended that, not only the professionals of the health, as well as all those that work with the seniors in general, they should have the concern of treating him with larger attention, patience and perseverance, to the point of to minimize the limitations that each one presents.

  1. The Impact of Coexisting Asthma, Chronic Obstructive Pulmonary Disease and Tuberculosis on Survival in Patients with Lung Squamous Cell Carcinoma.

    Directory of Open Access Journals (Sweden)

    Jing-Yang Huang

    Full Text Available Pulmonary diseases [asthma, chronic obstructive pulmonary disease (COPD, and tuberculosis (TB] are associated with lung cancer mortality. However, the relationship between coexisting pulmonary diseases and survival in patients with lung squamous cell carcinoma (SqCC has not been well defined.Patients newly diagnosed with SqCC between 2003 and 2008 were identified by linking the National Health Insurance Research Database and Taiwan Cancer Registry Database. Cases with SqCC were followed up until death, loss to follow-up, or study end in 2010. Information on health status, date of death and the main causes of death was ascertained from the National Death Registry Database. Cox proportional hazard regression was used to calculate the hazard ratio (HR of coexisting asthma, COPD and/or TB.During the study period, a total of 5406 cases with SqCC were enrolled. For all cause-mortality, HRs were 1.08 [95% confidence interval (CI, 0.99-1.18], 1.04 (95% CI, 0.97-1.12, and 1.14 (95% CI, 1.00-1.31 for individuals with asthma, COPD, and TB, respectively. Specifically, among men with coexisting pulmonary diseases, the HRs were 1.56 (95% CI, 1.23-1.97 and 1.11 (95% CI, 1.00-1.24 for individuals with asthma+COPD+TB and asthma+COPD, respectively. Among male patients with stage III SqCC, HRs were 3.41 (95%CI, 1.27-9.17 and 1.65 (95%CI, 1.10-2.47 for individuals with asthma+TB and asthma+COPD+TB, respectively. Among male patients with stage IV SqCC, HRs were 1.40 (95%CI, 1.00-1.97 and 1.25 (95%CI, 1.03-1.52 for individuals with asthma+ COPD+TB and asthma. Among female patients with stage I and II, HR was 0.19 (95%CI, 005-0.77 for individuals with asthma.Coexisting pulmonary diseases increased the risk of mortality from SqCC in male patients. For female patients with early stage SqCC, pre-existing asthma decreased mortality. These patients deserve greater attention while undergoing cancer treatment.

  2. Regional cerebral blood flow in patients with sickle cell disease: study with single photon emission computed tomography

    International Nuclear Information System (INIS)

    Neurological complications have been reported in patients with sickle-cell disease (SCD) using positron emission tomography (PET), magnetic resonance imaging (MRI), and computed tomography (CT), but not with single photon emission computed tomography (SPECT). The objective of this study was to investigate brain perfusion in the patients with SCD using SPECT after technetium-99m hexamethylpropylene amine oxime (99mTc-HMPAO), was administered and compare the findings with those of demography, physical examination, MRI and hematological profile. The study involved 21 patients (12 males, 9 females, age at study 8-45 years) who were known to be having SCD for a duration of at least 5 years. The patients were not in acute crisis and had normal neurological assessments with no known history of stroke or transient ischemic episode or previous abnormal CT or MRI brain scan, and were right-handed. The brain SPECT was performed after intravenous injection of 740 MBq (20 mCi) 99mTc-HMPAO in adults or an appropriate dose in pediatric patients. The scans were visually interpreted by two nuclear medicine physicians and a decision was reached by consensus. An MRI done 3 months later was interpreted by a radiologist. The demographic data and hematological profile were obtained from the medical records of the patients. Of the 21 patients, 7 (age 11-22 years) had brain perfusion deficit mostly in the frontal lobe either alone or in combination with temporal and/or parietal lobe. The MRI was abnormal in 2 patients. The brain perfusion deficit was not associated with the demographic data of the patients or hematological profiles. The findings show that SPECT was useful in detecting brain perfusion deficit in SCD patients, and such an early detection may be clinically useful in the subsequent follow-up of such patients, since it is known that cerebral perfusion deficit can lead to silent infarct and/or overt stroke, and affect cognitive skills. (author)

  3. SRXRF imaging of a single brain cell from a patient with Parkinson's disease

    Science.gov (United States)

    Takada, K.; Ektessabi, A. M.; Yoshida, S.

    1999-06-01

    Synchrotron radiation X-ray fluorescence spectroscopy (SRXRF) is a potential imaging technique with regard to minimum detection limit, measuring time and being non-destructive on biological samples. These advantages are important for measuring trace elements in biological samples. In this paper, we investigated the distribution of trace elements in the cerebral neurons of the brains of patients with Parkinson's disease (PD), using SRXRF spectroscopy. The cause of PD is unknown but many researchers consider that excessive accumulation of trace metal elements (mainly iron) has strong influence on the generative process of PD. Micro beam imaging (mapping of the elements) with a beam size of 6×8 μm2, and the energy of 13.5 keV was carried out in a single neuron. The distribution of trace elements in the neurons was successfully obtained in an area of about 100×100 μm2. The same sample was histologically studied with an optical microscope.

  4. SRXRF imaging of a single brain cell from a patient with Parkinson's disease

    International Nuclear Information System (INIS)

    Synchrotron radiation X-ray fluorescence spectroscopy (SRXRF) is a potential imaging technique with regard to minimum detection limit, measuring time and being non-destructive on biological samples. These advantages are important for measuring trace elements in biological samples. In this paper, we investigated the distribution of trace elements in the cerebral neurons of the brains of patients with Parkinson's disease (PD), using SRXRF spectroscopy. The cause of PD is unknown but many researchers consider that excessive accumulation of trace metal elements (mainly iron) has strong influence on the generative process of PD. Micro beam imaging (mapping of the elements) with a beam size of 6x8 μm2, and the energy of 13.5 keV was carried out in a single neuron. The distribution of trace elements in the neurons was successfully obtained in an area of about 100x100 μm2. The same sample was histologically studied with an optical microscope

  5. 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

  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. Monocyte/macrophage and T-cell infiltrates in peritoneum of patients with ovarian cancer or benign pelvic disease

    Directory of Open Access Journals (Sweden)

    Ma Qing

    2006-07-01

    Full Text Available Abstract Background We previously showed that tumor-free peritoneum of patients with epithelial ovarian cancer (EOC exhibited enhanced expression of several inflammatory response genes compared to peritoneum of benign disease. Here, we examined peritoneal inflammatory cell patterns to determine their concordance with selected enhanced genes. Methods Expression patterns of selected inflammatory genes were mined from our previously published data base. Bilateral pelvic peritoneal and subjacent stromal specimens were obtained from 20 women with EOC and 7 women with benign pelvic conditions. Sections were first stained by indirect immunoperoxidase and numbers of monocytes/macrophages (MO/MA, T cells, B cells, and NK cells counted. Proportions of CD68+ cells and CD3+ cells that coexpressed MO/MA differentiation factors (CD163, CCR1, CXCR8, VCAM1, and phosphorylated cytosolic phospholipase A2 [pcPLA2], which had demonstrated expression in EOC peritoneal samples, were determined by multicolor immunofluorescence. Results MO/MA were present on both sides of the pelvic peritoneum in EOC patients, with infiltration of the subjacent stroma and mesothelium. CD68+ MO/MA, the most commonly represented population, and CD3+ T cells were present more often in EOC than in benign pelvic tumors. NK cells, B cells, and granulocytes were rare. CXCL8 (IL-8 and the chemokine receptor CCR1 were coexpressed more frequently on MO/MA than on CD3+ cells contrasting with CD68+/CD163+ cells that coexpressed CXCL8 less often. An important activated enzyme in the eicosanoid pathway, pcPLA2, was highly expressed on both CD68+ and CD163+ cells. The adherence molecule Vascular Cell Adhesion Molecule-1 (VCAM1 was expressed on CD31+ endothelial cells and on a proportion of CD68+ MO/MA but rarely on CD3+ cells. Conclusion The pelvic peritoneum in EOC exhibits a general pattern of chronic inflammation, represented primarily by differentiated MO/MA, and distinct from that in benign

  8. Bilateral septic arthritis of the knee in a seven-year old sickle cell disease patient: a case report

    Directory of Open Access Journals (Sweden)

    Shobowale E.O

    2015-10-01

    Full Text Available Background: Septic arthritis is an inflammatory process in the joints associated with isolation of pathogens or a positive Gram stain of the synovial fluid. It is a disease condition with significant complications such as joint destruction and immobility. Individual cases are difficult to manage and frequently necessitate prolonged courses of antibiotics. Aim: The aim of the study was to present our findings with the view towards improving treatment outcomes in similar clinical scenarios. Findings: Septic arthritis in the index patient developed insidiously and was diagnosed after multiple arthrocentesis were performed. It was bilateral and associated with recurrent bouts of fever, joint tenderness reduced mobility and swelling. The predisposing factor in the index patient, a seven year old male was sickle cell disease. Multiple antimicrobial regimens were instituted in the patient with unsatisfactory results. Initial treatment regimens did not appear to be based on bacteriological statistics which resulted in prolonged hospital stay. Culture of the synovial fluid was initially onto brain heart infusion both and subsequently subcultured onto chocolate and MacConkey agar. The isolate recovered was Serratia rubideae which was identified using the Microbact 12A kit. Susceptibility studies showed the isolate to be susceptible to only meropenem. The patient was subsequently placed on meropenem for forty two days and recovered with radiologic and clinical evidence of improvement and thereafter discharged home. Conclusion: Close collaboration between the orthopedic surgeon and microbiologist will help to improve treatment outcomes. The Microbact12A kit is recommended in the routine identification of gram negative pathogens.

  9. Progenitor Hematopoietic Cells Implantation Improves Functional Capacity of End Stage Coronary Artery Disease Patients with Advanced Heart Failure

    Directory of Open Access Journals (Sweden)

    Yoga Yuniadi

    2016-01-01

    Full Text Available Background. Proangiogenic Hematopoietic Cells (PHC which comprise diverse mixture of cell types are able to secrete proangiogenic factors and interesting candidate for cell therapy. The aim of this study was to seek for benefit in implantation of PHC on functional improvement in end stage coronary artery disease patients with advanced heart failure. Methods. Patients with symptomatic heart failure despite guideline directed medical therapy and LVEF less than 35% were included. Peripheral blood mononuclear cells were isolated, cultivated for 5 days, and then harvested. Flow cytometry and cell surface markers were used to characterize PHC. The PHC were delivered retrogradely via sinus coronarius. Echocardiography, myocardial perfusion, and clinical and functional data were analyzed up to 1-year observation. Results. Of 30 patients (56.4±7.40 yo preimplant NT proBNP level is 5124.5±4682.50 pmol/L. Harvested cells characterized with CD133, CD34, CD45, and KDR showed 0.87±0.41, 0.63±0.66, 99.00±2.60, and 3.22±3.79%, respectively. LVEF was improved (22±5.68 versus 26.8±7.93, p<0.001 during short and long term observation. Myocardial perfusion significantly improved 6 months after treatment. NYHA Class and six-minute walk test are improved during short term and long term follow-up. Conclusion. Expanded peripheral blood PHC implantation using retrograde delivery approach improved LV systolic function, myocardial perfusion, and functional capacity.

  10. [The immune status changes in patients with inflammatory bowel disease under the influence of mesenchymal stromal cells and infliximab therapy].

    Science.gov (United States)

    Lazebnik, L B; Sagynbaeva, V É; Knyazev, O V; Parfenov, A I; Efremov, L I; Guseĭnzade, M D; Ruchkina, I N; Konopliannikov, A G; Iakovleva, M V; Astrelina, T A

    2011-01-01

    Out of 28 patients with inflammatory bowel disease in 11 (39.3%) revealed the presence of autoantibodies to gastric parietal cells. Appointment of MSC and infliximab did not lead to a reduction in antibody levels, in fact, in 6 (21.4%) patients had a further increase in the content of mentioned autoantibodies. Identification of autoantibodies to gastric parietal cells is considered as adherence to IBD autoimmune gastritis (formation of a systemic process) that requires use of corticosteroids. Transplantation of mesenchymal stromal cells in IBD reduces enhanced circulation of autoantibodies against antigens of neutrophils cytoplasmic structures, thereby reducing the severity of autoimmune reactions. Transplantation of MSCs reduces autoaggression in patients with ulcerative colitis, reducing the autoreactive clone of B lymphocytes (CD19+CD5+). Analysis effectiveness of the therapy. Transplantation of MSCs in IBD has a systemic immunoregulatory effect: on the one hand, stimulates oppressed cytokine synthesis, on the other--reduses the intensity of the autoimmune reactions and activity of pathological processes. Infliximab selectively blocks TNF-alpha, without affecting other proinflammatory cytokines. PMID:22629769

  11. Pulmonary complications of sickle cell disease.

    Science.gov (United States)

    Khoury, Ruby A; Musallam, Khaled M; Mroueh, Salman; Abboud, Miguel R

    2011-01-01

    The pulmonary complications of sickle cell disease are a major cause of morbidity and mortality in affected patients. The acute chest syndrome (ACS) is a leading cause of death in patients with sickle cell disease and has a multifactorial etiology. Hydroxyurea (HU), stem cell transplantation (SCT) and chronic transfusions are known to prevent the recurrence of ACS. Careful management of patients admitted for pain crises and surgery including use of incentive spirometry is critical in preventing this complication. Pulmonary hypertension is well known to be associated with sickle cell disease and patients with pulmonary hypertension have increased mortality. Asthma is also commonly seen in patients with sickle cell disease and is associated with a more complicated course. Chronic lung disease develops in a significant proportion of patients with sickle cell disease. PMID:21973051

  12. Adherent invasive Escherichia coli strains from patients with Crohn's disease survive and replicate within macrophages without inducing host cell death.

    Science.gov (United States)

    Glasser, A L; Boudeau, J; Barnich, N; Perruchot, M H; Colombel, J F; Darfeuille-Michaud, A

    2001-09-01

    Escherichia coli strains recovered from Crohn's disease (CD) lesions are able to adhere to and invade cultured intestinal epithelial cells. We analyzed the behavior within macrophages of adherent invasive E. coli (AIEC) strains isolated from patients with CD. All the 15 AIEC strains tested were able to replicate extensively within J774-A1 cells: the numbers of intracellular bacteria increased 2.2- to 74.2-fold at 48 h over that at 1 h postinfection. By use of murine peritoneal macrophages and human monocyte-derived-macrophages, the reference AIEC strain LF82 was confirmed to be able to survive intracellularly. Transmission electron micrographs of AIEC LF82-infected macrophages showed that at 24 h postinfection, infected cells harbored large vacuoles containing numerous bacteria, as a result of the fusion of several vacuoles occurring after 8 h postinfection. No lactate dehydrogenase (LDH) release, no sign of DNA fragmentation or degradation, and no binding to fluorescein isothlocyanate-labeled annexin V were observed with LF82-infected J774-A1 cells, even after 24 h postinfection. LF82-infected J774-A1 cells secreted 2.7-fold more tumor necrosis factor alpha (TNF-alpha) than cells stimulated with 1 microg of lipopolysaccharide (LPS)/ml. No release of interleukin-1beta was observed with LPS-prestimulated J774-A1 cells infected with AIEC LF82. These findings showed that (i) AIEC strains are able to survive and to replicate within macrophages, (ii) AIEC LF82 replication does not induce any cell death of the infected cells, and (iii) LF82-infected J774-A1 cells release high levels of TNF-alpha. These properties could be related to some features of CD and particularly to granuloma formation, one of the hallmarks of CD lesions. PMID:11500426

  13. Stem cell treatment for patients with autoimmune disease by systemic infusion of culture-expanded autologous adipose tissue derived mesenchymal stem cells

    Directory of Open Access Journals (Sweden)

    Ra Jeong Chan

    2011-10-01

    Full Text Available Abstract Prolonged life expectancy, life style and environmental changes have caused a changing disease pattern in developed countries towards an increase of degenerative and autoimmune diseases. Stem cells have become a promising tool for their treatment by promoting tissue repair and protection from immune-attack associated damage. Patient-derived autologous stem cells present a safe option for this treatment since these will not induce immune rejection and thus multiple treatments are possible without any risk for allogenic sensitization, which may arise from allogenic stem cell transplantations. Here we report the outcome of treatments with culture expanded human adipose-derived mesenchymal stem cells (hAdMSCs of 10 patients with autoimmune associated tissue damage and exhausted therapeutic options, including autoimmune hearing loss, multiple sclerosis, polymyotitis, atopic dermatitis and rheumatoid arthritis. For treatment, we developed a standardized culture-expansion protocol for hAdMSCs from minimal amounts of fat tissue, providing sufficient number of cells for repetitive injections. High expansion efficiencies were routinely achieved from autoimmune patients and from elderly donors without measurable loss in safety profile, genetic stability, vitality and differentiation potency, migration and homing characteristics. Although the conclusions that can be drawn from the compassionate use treatments in terms of therapeutic efficacy are only preliminary, the data provide convincing evidence for safety and therapeutic properties of systemically administered AdMSC in human patients with no other treatment options. The authors believe that ex-vivo-expanded autologous AdMSCs provide a promising alternative for treating autoimmune diseases. Further clinical studies are needed that take into account the results obtained from case studies as those presented here.

  14. Escherichia coli isolated from a Crohn's disease patient adheres, invades, and induces inflammatory responses in polarized intestinal epithelial cells.

    Science.gov (United States)

    Eaves-Pyles, Tonyia; Allen, Christopher A; Taormina, Joanna; Swidsinski, Alexander; Tutt, Christopher B; Jezek, G Eric; Islas-Islas, Martha; Torres, Alfredo G

    2008-07-01

    Inflammatory diseases of the intestinal tract are a major health concern both in the United States and around the world. Evidence now suggests that a new category of Escherichia coli, designated Adherent Invasive E. coli (AIEC) is highly prevalent in Crohn's Disease (CD) patients. AIEC strains have been shown to colonize and adhere to intestinal epithelial cells (IEC). However, the role AIEC strains play in the induction of an inflammatory response is not known. Therefore, we examined several E. coli strains (designated LF82, O83:H1, 6604 and 6655) that were isolated from CD patients for their ability to induce inflammation in two IEC, Caco-2BBe and T-84 cells. Results showed that each strain had varying abilities to adhere to and invade IEC as well as induced cytokine secretion from polarized IEC. However, E. coli O83:H1 displayed the best characteristics of AIEC strains as compared to the prototype AIEC strain LF82, inducing cytokine secretion from IEC and promoting immune cell migration through IEC. Upon further analysis, E. coli O83:H1 did not harbor virulence genes present in known pathogenic intestinal organisms. Further characterization of E. coli O83:H1 virulence determinants showed that a non-flagellated O83:H1 strain significantly decreased the organism's ability to adhere to and invade both IEC and elicit IEC cytokine secretion compared to the wild type and complemented strains. These findings demonstrate that E. coli O83:H1 possesses the characteristics of the AIEC LF82 strain that may contribute to the low-grade, chronic inflammation observed in Crohn's disease. PMID:17900983

  15. Impact of chronic obstructive pulmonary disease on postoperative recurrence in patients with resected non-small-cell lung cancer

    Directory of Open Access Journals (Sweden)

    Qiang GL

    2015-12-01

    Full Text Available Guangliang Qiang, Chaoyang Liang, Fei Xiao, Qiduo Yu, Huanshun Wen, Zhiyi Song, Yanchu Tian, Bin Shi, Yongqing Guo, Deruo Liu Department of Thoracic Surgery, China–Japan Friendship Hospital, Beijing, People’s Republic of China Purpose: This study aimed to determine whether the severity of chronic obstructive pulmonary disease (COPD affects recurrence-free survival in non-small-cell lung cancer (NSCLC patients after surgical resection.Patients and methods: A retrospective study was performed on 421 consecutive patients who had undergone lobectomy for NSCLC from January 2008 to June 2011. Classification of COPD severity was based on guidelines of the Global Initiative for Chronic Obstructive Lung Disease (GOLD. Characteristics among the three subgroups were compared and recurrence-free survivals were analyzed.Results: A total of 172 patients were diagnosed with COPD (124 as GOLD-1, 46 as GOLD-2, and two as GOLD-3. The frequencies of recurrence were significantly higher in patients with higher COPD grades (P<0.001. Recurrence-free survival at 5 years was 78.1%, 70.4%, and 46.4% in non-COPD, mild COPD, and moderate/severe COPD groups, respectively (P<0.001. By univariate analysis, the age, sex, smoking history, COPD severity, tumor size, histology, and pathological stage were associated with recurrence-free survival. Multivariate analysis showed that older age, male, moderate/severe COPD, and advanced stage were independent risk factors associated with recurrence-free survival.Conclusion: NSCLC patients with COPD are at high risk for postoperative recurrence, and moderate/severe COPD is an independent unfavorable prognostic factor. Keywords: lung neoplasms, surgery, pulmonary function test, prognosis

  16. 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

    BACKGROUND: Sickle cell disease (SCD) is a genetic disorder common in malaria endemic areas. In endemic areas, malaria is a major cause of morbidity and mortality among SCD patients. This suggests the need for prompt initiation of efficacious anti-malarial therapy in SCD patients with acute malaria....... 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....../57) in the SCD group and 96.4% (53/55) in the non-SCD group. The fractional changes in haemoglobin, platelets and white blood cell counts between baseline (day 0) and endpoint (day 42) were 16.9, 40.6 and 92.3%, respectively, for the SCD group, and, 12.3, 48.8 and 7.5%, respectively, for the non...

  17. Neurological PRESentations in Sickle Cell Patients Are Not Always Stroke: A Review of Posterior Reversible Encephalopathy Syndrome in Sickle Cell Disease.

    Science.gov (United States)

    Solh, Ziad; Taccone, Michael S; Marin, Samantha; Athale, Uma; Breakey, Vicky R

    2016-06-01

    Acute neurological changes in sickle cell disease (SCD) patients often raise the suspicion for stroke. Posterior reversible encephalopathy syndrome (PRES) can mimic stroke in its clinical presentation. We aimed to (i) review the PRES literature in SCD patients including clinical presentation, risk factors, pathophysiology, and management and (ii) elucidate the distinction between PRES and stroke in SCD. The exact pathophysiology of PRES in SCD remains elusive but is likely multifactorial and related to sickling, ischemia, and chronic anemia predisposing to vasogenic edema. PRES and stroke in SCD are distinguishable conditions. Our review may help elucidate a clinical approach to this distinction. PMID:26871763

  18. Living with Sickle Cell Disease

    Science.gov (United States)

    ... sickle cell disease, go to the Health Topics Sickle Cell Anemia article. Living With and Managing Sickle Cell Disease ( ... the most severe form of sickle cell disease, sickle cell anemia, Tiffany has lived with the symptoms and complications ...

  19. What Causes Sickle Cell Disease?

    Science.gov (United States)

    ... sickle cell disease, go to the Health Topics Sickle Cell Anemia article. Living With and Managing Sickle Cell Disease ( ... the most severe form of sickle cell disease, sickle cell anemia, Tiffany has lived with the symptoms and complications ...

  20. Erythropoietin production in renal cell carcinoma and renal cysts in autosomal dominant polycystic kidney disease in a chronic dialysis patient with polycythemia: A case report

    OpenAIRE

    Ito, Keiichi; Asano, Takako; TOMINAGA, SUSUMU; Yoshii, Hidehiko; SAWAZAKI, HARUTAKE; ASANO, TOMOHIKO

    2014-01-01

    In patients undergoing chronic hemodialysis (HD), erythropoietin (EPO) production from the kidney generally decreases and renal anemia develops. Patients without anemia, but with high serum EPO (sEPO) levels are rare among HD patients. The current study presents the case of a 67-year-old female HD patient with autosomal dominant polycystic kidney disease (ADPKD) and renal cell carcinoma (RCC), manifesting polycythemia with elevated sEPO levels. A radical nephrectomy was performed, which dimin...

  1. S1 nuclease analysis of α-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells

    International Nuclear Information System (INIS)

    The loss of α-globin gene transcriptional activity rarely occurs as an acquired abnormality during the evolution of myeloproliferative disease or preleukemia. To test whether the mutation responsible for the loss of α-globin gene expression (hemoglobin H disease) in these patients is linked with the α-globin genes on chromosome 16, the authors transferred chromosome 16 from preleukemic patients with acquired hemoglobin H disease to mouse erythroleukemia cells and measured the transcriptional activity of the human α-globin genes. After transfer to mouse erythroleukemia cells, the expression of human α-globin genes from the peripheral blood or marrow cells of preleukemic patients with acquired hemoglobin H disease was similar to that of human α-globin genes transferred to mouse erythroleukemia cells from normal donors. These data showed that factor(s) in the mouse erythroleukemia cell can genetically complement the α-globin gene defect in these preleukemia patients with acquired hemoglobin H disease and suggest that altered expression of a gene in trans to the α-globin gene may be responsible for the acquisition of hemoglobin H disease in these patients

  2. Challenging complications of treatment – human herpes virus 6 encephalitis and pneumonitis in a patient undergoing autologous stem cell transplantation for relapsed Hodgkin's disease: a case report

    Directory of Open Access Journals (Sweden)

    Pauls Sandra

    2009-07-01

    Full Text Available Abstract Background Reactivation of human herpesvirus 6 (HHV-6 occurs frequently in patients after allogeneic stem cell transplantation and is associated with bone-marrow suppression, enteritis, pneumonitis, pericarditis and also encephalitis. After autologous stem cell transplantation or intensive polychemotherapy HHV-6 reactivation is rarely reported. Case report This case demonstrates a severe symptomatic HHV-6 infection with encephalitis and pneumonitis after autologous stem cell transplantation of a patient with relapsed Hodgkin's disease. Conclusion Careful diagnostic work up in patients with severe complications after autologous stem cell transplantation is mandatory to identify uncommon infections.

  3. A Mismatch Between Patient Education Materials About Sickle Cell Disease and the Literacy Level of Their Intended Audience

    Science.gov (United States)

    Ng, Jared; Vitzthum, Kelly; Rudd, Rima

    2016-01-01

    Introduction Despite the first goal of the 2010 National Action Plan to Improve Health Literacy, the literacy demands of much health information exceeds the reading skills of most US adults. The objective of this study was to assess the health literacy level of publicly available patient education materials for people with sickle cell disease (SCD). Methods We used 5 validated tools to evaluate 9 print and 4 online patient education materials: the simple measure of gobbledygook (SMOG) to assess reading grade level, the Peter Mosenthal and Irwin Kirsch readability formula (PMOSE/IKIRSCH) to assess structure and density, the Patient Education Materials Assessment Tool (PEMAT) to assess actionability (how well readers will know what to do after reading the material) and understandability, the Centers for Disease Control and Prevention’s (CDC’s) Clear Communication Index (Index) to obtain a comprehensive literacy demand score, and the Printed Cancer Education Materials for African Americans Cultural Sensitivity Assessment Tool. Results Materials’ scores reflected high reading levels ranging from 8th grade to 12th grade, appropriate (low) structural demand, and low actionability relative to understandability. CDC suggests that an appropriate Index score should fall in or above the 90th percentile. The scores yielded by materials evaluated in this assessment ranged from the 44th to the 76th percentiles. Eight of the 13 materials scored within the acceptable range for cultural sensitivity. Conclusion Reading levels of available patient education materials exceed the documented average literacy level of the US adult population. Health literacy demands should be a key consideration in the revision and development of patient education materials for people with SCD. PMID:27172259

  4. Characterization of Peripheral Immune Cell Subsets in Patients with Acute and Chronic Cerebrovascular Disease: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Peter Kraft

    2015-10-01

    Full Text Available Immune cells (IC play a crucial role in murine stroke pathophysiology. However, data are limited on the role of these cells in ischemic stroke in humans. We therefore aimed to characterize and compare peripheral IC subsets in patients with acute ischemic stroke/transient ischemic attack (AIS/TIA, chronic cerebrovascular disease (CCD and healthy volunteers (HV. We conducted a case-control study of patients with AIS/TIA (n = 116 or CCD (n = 117, and HV (n = 104 who were enrolled at the University Hospital Würzburg from 2010 to 2013. We determined the expression and quantity of IC subsets in the three study groups and performed correlation analyses with demographic and clinical parameters. The quantity of several IC subsets differed between the AIS/TIA, CCD, and HV groups. Several clinical and demographic variables independently predicted the quantity of IC subsets in patients with AIS/TIA. No significant changes in the quantity of IC subsets occurred within the first three days after AIS/TIA. Overall, these findings strengthen the evidence for a pathophysiologic role of IC in human ischemic stroke and the potential use of IC-based biomarkers for the prediction of stroke risk. A comprehensive description of IC kinetics is crucial to enable the design of targeted treatment strategies.

  5. Protein degradation in a LAMP-2-deficient B-lymphoblastoid cell line from a patient with Danon disease.

    Science.gov (United States)

    Sánchez-Lanzas, Raul; Alvarez-Castelao, Beatriz; Bermejo, Teresa; Ayuso, Teresa; Tuñón, Teresa; Castaño, José G

    2016-08-01

    Danon disease, a condition characterized by cardiomyopathy, myopathy, and intellectual disability, is caused by mutations in the LAMP-2 gene. Lamp-2A protein, generated by alternative splicing from the Lamp-2 pre-mRNA, is reported to be the lysosomal membrane receptor essential for the chaperone-mediated autophagic pathway (CMA) aimed to selective protein targeting and translocation into the lysosomal lumen for degradation. To study the relevance of Lamp-2 in protein degradation, a lymphoblastoid cell line was obtained by EBV transformation of B-cells from a Danon patient. The derived cell line showed no significant expression of Lamp-2 protein. The steady-state mRNA and protein levels of alpha-synuclein, IΚBα, Rcan1, and glyceraldehyde-3-phosphate dehydrogenase, four proteins reported to be selective substrates of the CMA pathway, were similar in control and Lamp-2-deficient cells. Inhibition of protein synthesis showed that the half-life of alpha-synuclein, IΚBα, and Rcan1 was similar in control and Lamp-2-deficient cells, and its degradation prevented by proteasome inhibitors. Both in control and Lamp-2-deficient cells, induction of CMA and macroautophagy by serum and aminoacid starvation of cells for 8h produced a similar decrease in IΚBα and Rcan1 protein levels and was prevented by the addition of lysosome and autophagy inhibitors. In conclusion, the results presented here showed that Lamp-2 deficiency in human lymphoblastoid cells did not modify the steady-state levels or the degradation of several protein substrates reported as selective substrates of the CMA pathway. PMID:27130438

  6. Cocaine Enhances HIV-1–Induced CD4+ T-Cell Apoptosis: Implications in Disease Progression in Cocaine-Abusing HIV-1 Patients

    OpenAIRE

    Pandhare, Jui; Addai, Amma B.; Mantri, Chinmay K.; Hager, Cynthia; Smith, Rita M.; Barnett, Louis; Villalta, Fernando; Kalams, Spyros A.; Dash, Chandravanu

    2014-01-01

    Substance abuse is a major barrier in eradication of the HIV epidemic because it serves as a powerful cofactor for viral transmission, disease progression, and AIDS-related mortality. Cocaine, one of the commonly abused drugs among HIV-1 patients, has been suggested to accelerate HIV disease progression. However, the underlying mechanism remains largely unknown. Therefore, we tested whether cocaine augments HIV-1–associated CD4+ T-cell decline, a predictor of HIV disease progression. We exami...

  7. Quantitative sensory testing and pain-evoked cytokine reactivity: comparison of patients with sickle cell disease to healthy matched controls.

    Science.gov (United States)

    Campbell, Claudia M; Carroll, C Patrick; Kiley, Kasey; Han, Dingfen; Haywood, Carlton; Lanzkron, Sophie; Swedberg, Lauren; Edwards, Robert R; Page, Gayle G; Haythornthwaite, Jennifer A

    2016-04-01

    Sickle cell disease (SCD) is an inherited blood disorder associated with significant morbidity, which includes severe episodic pain, and, often, chronic pain. Compared to healthy individuals, patients with SCD report enhanced sensitivity to thermal detection and pain thresholds and have altered inflammatory profiles, yet no studies to date have examined biomarker reactivity after laboratory-induced pain. We sought to examine this relationship in patients with SCD compared to healthy control participants. We completed quantitative sensory testing in 83 patients with SCD and sequential blood sampling in 27 of them, whom we matched (sex, age, race, body mass index, and education) to 27 healthy controls. Surprisingly, few quantitative sensory testing differences emerged between groups. Heat pain tolerance, pressure pain threshold at the trapezius, thumb, and quadriceps, and thermal temporal summation at 45°C differed between groups in the expected direction, whereas conditioned pain modulation and pain ratings to hot water hand immersion were counterintuitive, possibly because of tailoring the water temperature to a perceptual level; patients with SCD received milder temperatures. In the matched subsample, group differences and group-by-time interactions were observed in biomarkers including tumor necrosis factor alpha, interleukin-1ß, interleukin-4, and neuropeptide Y. These findings highlight the utility of laboratory pain testing methods for understanding individual differences in inflammatory cytokines. Our findings suggest amplified pain-evoked proinflammatory cytokine reactivity among patients with SCD relative to carefully matched controls. Future research is warranted to evaluate the impact of enhanced pain-related cytokine response and whether it is predictive of clinical characteristics and the frequency/severity of pain crises in patients with SCD. PMID:26713424

  8. Role of integrin-linked kinase for functional capacity of endothelial progenitor cells in patients with stable coronary artery disease

    International Nuclear Information System (INIS)

    Number and function of endothelial progenitor cells (EPCs) are down-regulated in patients with coronary artery disease (CAD). Integrin-linked kinase (ILK) is a signal and adaptor protein that regulates survival of mature endothelial cells and vascular development. Here we show that EPC dysfunction in patients with CAD is paralleled by down-regulation of ILK while restoration of ILK expression rescues the migratory defect of CAD-EPCs. Human EPCs transduced with dominant-negative ILK (DN-ILK) display significantly reduced expression of CD34+/VEGFR-2+, DiI-Ac-LDL uptake, and Ulex europaeus lectin binding. Mechanistically, DN-ILK-transfected EPCs are characterized by decreased proliferation, while proliferation is increased in wild-type ILK-transfected EPCs. These effects are paralleled by changes in cyclin D1 expression, colony forming units, and cytoskeletal rearrangement. Functionally, ILK is necessary and sufficient for SDF-1-triggered migration and adhesion in EPCs. These data extend current knowledge about the role of ILK in EPC biology and implicate ILK as a therapeutic target in CAD.

  9. Diffuse large B-cell lymphoma patient-derived xenograft models capture the molecular and biological heterogeneity of the disease.

    Science.gov (United States)

    Chapuy, Bjoern; Cheng, Hongwei; Watahiki, Akira; Ducar, Matthew D; Tan, Yuxiang; Chen, Linfeng; Roemer, Margaretha G M; Ouyang, Jing; Christie, Amanda L; Zhang, Liye; Gusenleitner, Daniel; Abo, Ryan P; Farinha, Pedro; von Bonin, Frederike; Thorner, Aaron R; Sun, Heather H; Gascoyne, Randy D; Pinkus, Geraldine S; van Hummelen, Paul; Wulf, Gerald G; Aster, Jon C; Weinstock, David M; Monti, Stefano; Rodig, Scott J; Wang, Yuzhuo; Shipp, Margaret A

    2016-05-01

    Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous disease defined by transcriptional classifications, specific signaling and survival pathways, and multiple low-frequency genetic alterations. Preclinical model systems that capture the genetic and functional heterogeneity of DLBCL are urgently needed. Here, we generated and characterized a panel of large B-cell lymphoma (LBCL) patient-derived xenograft (PDX) models, including 8 that reflect the immunophenotypic, transcriptional, genetic, and functional heterogeneity of primary DLBCL and 1 that is a plasmablastic lymphoma. All LBCL PDX models were subjected to whole-transcriptome sequencing to classify cell of origin and consensus clustering classification (CCC) subtypes. Mutations and chromosomal rearrangements were evaluated by whole-exome sequencing with an extended bait set. Six of the 8 DLBCL models were activated B-cell (ABC)-type tumors that exhibited ABC-associated mutations such as MYD88, CD79B, CARD11, and PIM1. The remaining 2 DLBCL models were germinal B-cell type, with characteristic alterations of GNA13, CREBBP, and EZH2, and chromosomal translocations involving IgH and either BCL2 or MYC Only 25% of the DLBCL PDX models harbored inactivating TP53 mutations, whereas 75% exhibited copy number alterations of TP53 or its upstream modifier, CDKN2A, consistent with the reported incidence and type of p53 pathway alterations in primary DLBCL. By CCC criteria, 6 of 8 DLBCL PDX models were B-cell receptor (BCR)-type tumors that exhibited selective surface immunoglobulin expression and sensitivity to entospletinib, a recently developed spleen tyrosine kinase inhibitor. In summary, we have established and characterized faithful PDX models of DLBCL and demonstrated their usefulness in functional analyses of proximal BCR pathway inhibition. PMID:26773040

  10. Squamous Cell Carcinoma and Multiple Bowen's Disease in a Patient with a History of Consumption of Traditional Chinese Herbal Balls

    Directory of Open Access Journals (Sweden)

    Joon Seok

    2015-07-01

    Full Text Available Arsenic has been classified as a class I human carcinogen, meaning that there is sufficient evidence of carcinogenicity to humans. Arsenic, however, remains a common contaminant in a number of traditional Chinese herbal balls. A 64-year-old man presented with an erythematous erosive patch on the left palm, multiple yellowish scaly patches on the right palm and an erythematous hyperkeratotic patch with bleeding on the left foot dorsum. He also had similar skin lesions on the back and buttock. He had a past medical history of chronic exposure to arsenic through consumption of traditional Chinese herbal balls. Skin biopsy revealed Bowen's disease on the left palm and squamous cell carcinoma on left foot dorsum. We report this case to emphasize that we should investigate patient's history thoroughly, including the use of Chinese herbal balls to find out arsenicism.

  11. Langerhans cells in periodontal disease of HIV- and HIV+ patients undergoing highly active antiretroviral therapy

    OpenAIRE

    Takeshi Kato Segundo; Giovanna Ribeiro Souto; Ricardo Alves Mesquita; Fernando Oliveira Costa

    2011-01-01

    The aim of this study was to assess and compare quantitatively the presence of S100+ Langerhans cells (LC) by immunochemistry techniques in HIV+ and HIV- gingivitis and periodontitis subjects. Additionally, it aimed to evaluate the correlation among densities of these cells with CD4+ and CD8+ T cells, and viral load levels in HIV+ subjects, all using Highly Active Antiretroviral Therapy (HAART). The samples were allocated into four groups: 1) 15 subjects with moderate chronic periodontitis (M...

  12. Patient-Specific Induced Pluripotent Stem-Cell Models of Cardiac Disease

    OpenAIRE

    Jung, Christian Billy

    2012-01-01

    Stem cells, despite being the subject of ethical and political debates, provide fascinating prospects for biomedical applications by both their ability to renew themselves and to differentiate into specialized cell types in vitro. Since the first isolation of murine embryonic stem cells in 1981, remarkable advances and groundbreaking findings were observed. During the past five years, the field gained further momentum by the discovery of a new platform technology (induced pluripotent stem cel...

  13. TALEN-mediated functional correction of X-linked chronic granulomatous disease in patient-derived induced pluripotent stem cells.

    Science.gov (United States)

    Dreyer, Anne-Kathrin; Hoffmann, Dirk; Lachmann, Nico; Ackermann, Mania; Steinemann, Doris; Timm, Barbara; Siler, Ulrich; Reichenbach, Janine; Grez, Manuel; Moritz, Thomas; Schambach, Axel; Cathomen, Toni

    2015-11-01

    X-linked chronic granulomatous disease (X-CGD) is an inherited disorder of the immune system. It is characterized by a defect in the production of reactive oxygen species (ROS) in phagocytic cells due to mutations in the NOX2 locus, which encodes gp91phox. Because the success of retroviral gene therapy for X-CGD has been hampered by insertional activation of proto-oncogenes, targeting the insertion of a gp91phox transgene into potential safe harbor sites, such as AAVS1, may represent a valid alternative. To conceptually evaluate this strategy, we generated X-CGD patient-derived induced pluripotent stem cells (iPSCs), which recapitulate the cellular disease phenotype upon granulocytic differentiation. We examined AAVS1-specific zinc-finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs) for their efficacy to target the insertion of a myelo-specific gp91phox cassette to AAVS1. Probably due to their lower cytotoxicity, TALENs were more efficient than ZFNs in generating correctly targeted iPSC colonies, but all corrected iPSC clones showed no signs of mutations at the top-ten predicted off-target sites of both nucleases. Upon differentiation of the corrected X-CGD iPSCs, gp91phox mRNA levels were highly up-regulated and the derived granulocytes exhibited restored ROS production that induced neutrophil extracellular trap (NET) formation. In conclusion, we demonstrate that TALEN-mediated integration of a myelo-specific gp91phox transgene into AAVS1 of patient-derived iPSCs represents a safe and efficient way to generate autologous, functionally corrected granulocytes. PMID:26295532

  14. Intracardiac Thrombosis in Sickle Cell Disease

    OpenAIRE

    Marzieh Nikparvar; Mohammad Reza Evazi; Tasnim Eftekhari; Farzaneh Moosavi

    2016-01-01

    In patients with sickle cell disease, thrombotic microangiopathy is a rare complication. Also in sickle cell disease, intracardiac thrombus formation without structural heart diseases or atrial arrhythmias is a rare phenomenon. We herein describe a 22-year-old woman, who was a known case of sickle cell-βthalassemia, had a history of recent missed abortion, and was admitted with a vaso-occlusive crisis. The patient had manifestations of microangiopathic hemolytic anemia, including laboratory e...

  15. Nationwide Survey of Patient Knowledge and Attitudes towards Human Experimentation Using Stem Cells or Bee Venom Acupuncture for Parkinson’s Disease

    OpenAIRE

    ,; Chung, Sun Ju; Koh, Seong Beom; Ju, Young-Su; Kim, Jae Woo

    2014-01-01

    Objective Stem cell treatment is a well-recognized experimental treatment among patients with Parkinson’s disease (PD), for which there are high expectations of a positive impact. Acupuncture with bee venom is one of the most popular complementary and alternative treatments for PD. Patient knowledge and attitudes towards these experimental treatments are unknown. Methods Using a 12-item questionnaire, a nationwide survey was conducted of 963 PD patients and 267 caregivers in 44 Korean Movemen...

  16. Lack of functional relevance of isolated cell damage in transplants of Parkinson's disease patients

    DEFF Research Database (Denmark)

    Cooper, Oliver; Astradsson, Arnar; Hallett, Penny;

    2009-01-01

    -like structures. In this review, we discuss why this isolated cell damage is unlikely to affect the overall graft function and how we can use these observations to help us to understand age-related neurodegeneration and refine our future cell replacement therapies....

  17. Transcranial Doppler, MRA, and MRI as a screening examination for cerebrovascular disease in patients with sickle cell anemia: an 8-year study

    International Nuclear Information System (INIS)

    Objective. The authors previously reported five transcranial Doppler ultrasonography (TCD) findings as significant in detecting clinical cerebrovascular disease in a 4-year study in patients with sickle cell disease. This is a follow-up to evaluate the validity of the original findings over another 4-year period during which the study population doubled. A clinical follow-up of the original asymptomatic sickle cell patients with positive TCD, MRA, and MRI was also made. Results. Of the 4 out of original 46 control patients in 1992 who had positive MRA and TCD, 3 have subsequently had clinical stroke. None of the 9 original patients with positive TCD and positive MRI but negative MRA have developed stroke. All five original TCD indicators of disease were still significant (P35 cm/s, mean velocity in middle cerebral artery (MCA) >170 cm/s, resistive index (RI) in OA200 cm/s. (orig.)

  18. Imaging of sickle cell disease

    International Nuclear Information System (INIS)

    Sickle cell disease is an important health care issue in the United States and in certain areas in Africa, the Middle East and India. Although a great deal of progress has been made in understanding the disease at the molecular and pathophysiologic level, specific treatment which is safe and accessible for most patients is still elusive. Going into the next millennium, the management of this disease is still largely dependent on early diagnosis and the treatment of complications with supportive care. Thus, diagnosis and evaluation of the complications of the disease are crucial in directing clinical care at the bedside. Modern imaging modalities have greatly improved, and their application in the patient with the sickling disorders has enhanced the decision - making process. The purpose of this article is to review the clinical aspects of common complications of the disease and to discuss imaging approaches which are useful in their evaluation. (orig.)

  19. Imaging of sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Crowley, J.J. [Department of Pediatric Imaging, Children`s Hospital of Michigan, Detroit (United States); Sarnaik, S. [Sickle Cell Center, Children`s Hospital of Michigan, Detroit (United States)

    1999-09-01

    Sickle cell disease is an important health care issue in the United States and in certain areas in Africa, the Middle East and India. Although a great deal of progress has been made in understanding the disease at the molecular and pathophysiologic level, specific treatment which is safe and accessible for most patients is still elusive. Going into the next millennium, the management of this disease is still largely dependent on early diagnosis and the treatment of complications with supportive care. Thus, diagnosis and evaluation of the complications of the disease are crucial in directing clinical care at the bedside. Modern imaging modalities have greatly improved, and their application in the patient with the sickling disorders has enhanced the decision - making process. The purpose of this article is to review the clinical aspects of common complications of the disease and to discuss imaging approaches which are useful in their evaluation. (orig.) With 15 figs., 102 refs.

  20. Langerhans cells in periodontal disease of HIV- and HIV+ patients undergoing highly active antiretroviral therapy

    Directory of Open Access Journals (Sweden)

    Takeshi Kato Segundo

    2011-06-01

    Full Text Available The aim of this study was to assess and compare quantitatively the presence of S100+ Langerhans cells (LC by immunochemistry techniques in HIV+ and HIV- gingivitis and periodontitis subjects. Additionally, it aimed to evaluate the correlation among densities of these cells with CD4+ and CD8+ T cells, and viral load levels in HIV+ subjects, all using Highly Active Antiretroviral Therapy (HAART. The samples were allocated into four groups: 1 15 subjects with moderate chronic periodontitis (MCP, HIV+; 2 15 subjects with MCP, HIV-; 3 10 subjects with gingivitis (G, HIV+; and 4 10 subjects with G, HIV-. The S100+ cells were assessed in the pocket epithelium, gingival epithelium, and lamina propria. A statistically significant increase of total S100+ cells in HIV+ periodontitis subjects was observed in relation to HIV- periodontitis subjects. No increase of S100+ cells with increased inflammation was observed. No statistically significant correlation among S100+ cells and blood levels of CD4, CD8, and viral load was observed. In conclusion, the use of HAART can aid in achieving viral loads, and it is suggested that it may prevent the destruction of the LC.

  1. Cutoff Values of Serum IgG4 and Histopathological IgG4+ Plasma Cells for Diagnosis of Patients with IgG4-Related Disease

    Directory of Open Access Journals (Sweden)

    Yasufumi Masaki

    2012-01-01

    Full Text Available IgG4-related disease is a new disease classification established in Japan in the 21st century. Patients with IgG4-related disease display hyper-IgG4-gammaglobulinemia, massive infiltration of IgG4+ plasma cells into tissue, and good response to glucocorticoids. Since IgG4 overexpression is also observed in other disorders, it is necessary to diagnose IgG4-related disease carefully and correctly. We therefore sought to determine cutoff values for serum IgG4 and IgG4/IgG and for IgG4+/IgG+ plasma cells in tissue diagnostic of IgG4-related disease. Patients and Methods. We retrospectively analyzed serum IgG4 concentrations and IgG4/IgG ratio and IgG4+/IgG+ plasma cell ratio in tissues of 132 patients with IgG4-related disease and 48 patients with other disorders. Result. Serum IgG4 >135  mg/dl demonstrated a sensitivity of 97.0% and a specificity of 79.6% in diagnosing IgG4-related disease, and serum IgG4/IgG ratios >8% had a sensitivity and specificity of 95.5% and 87.5%, respectively. IgG4+cell/IgG+ cell ratio in tissues >40% had a sensitivity and specificity of 94.4% and 85.7%, respectively. However, the number of IgG4+ cells was reduced in severely fibrotic parts of tissues. Conclusion. Although a recent unanimous consensus of all relevant researchers in Japan recently established the diagnostic criteria for IgG4-related disease, findings such as ours indicate that further discussion is needed.

  2. Clinical disease due to enterovirus D68 in adult hematologic malignancy patients and hematopoietic cell transplant recipients

    OpenAIRE

    Waghmare, Alpana; Pergam, Steven A.; Jerome, Keith R.; Englund, Janet A.; Boeckh, Michael; Kuypers, Jane

    2015-01-01

    Enterovirus D68 can infect adult patients with hematologic malignancy and HCT recipients and lead to severe respiratory disease.Current diagnostic assays for enterovirus D68 are limited, and further studies on improved rapid diagnostic tools are needed.

  3. Calcified pulmonary thromboembolism in a child with sickle cell disease: value of multidetector CT in patients with acute chest syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Staser, Jonathan A. [Indiana University Medical Center, Department of Radiology, Indianapolis, IN (United States); Alam, Tariq [Medical College of Ohio, Department of Radiology, Toledo, OH (United States); Applegate, Kimberly [Indiana University Medical Center, Sections of Pediatric Radiology and Health Services Research, Indianapolis, IN (United States); Indiana University Medical Center, Department of Radiology, Riley Hospital for Children, Indianapolis, IN (United States)

    2006-06-15

    The incidence of pulmonary embolism in children is not clearly known, but is believed to be low. Risk factors for pulmonary thromboembolism include central venous catheter, malignancy, surgery, infection, trauma, and congenital hypercoagulable disorders. Children with sickle cell disease are prothrombotic and are at an increased risk of thromboembolism. The incidence of this event is unknown because these children are often not thoroughly imaged. We report here a case of a calcified pulmonary thromboembolism in a child with sickle cell disease and emphasize the use of multidetector CT in detection of pulmonary thromboembolism in children with sickle cell disease. (orig.)

  4. Calcified pulmonary thromboembolism in a child with sickle cell disease: value of multidetector CT in patients with acute chest syndrome

    International Nuclear Information System (INIS)

    The incidence of pulmonary embolism in children is not clearly known, but is believed to be low. Risk factors for pulmonary thromboembolism include central venous catheter, malignancy, surgery, infection, trauma, and congenital hypercoagulable disorders. Children with sickle cell disease are prothrombotic and are at an increased risk of thromboembolism. The incidence of this event is unknown because these children are often not thoroughly imaged. We report here a case of a calcified pulmonary thromboembolism in a child with sickle cell disease and emphasize the use of multidetector CT in detection of pulmonary thromboembolism in children with sickle cell disease. (orig.)

  5. Learning about Sickle Cell Disease

    Science.gov (United States)

    ... genetic terms used on this page Learning About Sickle Cell Disease What do we know about heredity and ... Information What do we know about heredity and sickle cell disease? Sickle cell disease is the most common ...

  6. Liver Cirrhosis in a Patient with Sickle Cell Trait (Hb Sβ+ Thalassemia) without Other Known Causes of Hepatic Disease

    OpenAIRE

    Santi, Luca; Montanari, Giancarlo; Berardi, Sonia; Patti, Corrado; Frigerio, Marta; Sama, Claudia; Caraceni, Paolo; Bernardi, Mauro

    2009-01-01

    Liver involvement in patients with sickle cell anemia/trait includes a wide range of alterations, from mild liver function test abnormalities to cirrhosis and acute liver failure. Approximately 15–30% of patients with sickle cell anemia present cirrhosis at autopsy. The pathogenesis of cirrhosis is usually related to chronic hepatitis B or C infection or to iron overload resulting from the many transfusions received by these patients in their lifetime. Thus, cirrhosis has been described almos...

  7. Precision of SPECT/CT allows the diagnosis of a hidden Brodie's abscess of the talus in a patient with sickle cell disease

    International Nuclear Information System (INIS)

    Brodie's abscess is a rare subacute osteomyelitis that can be found in sickle cell disease along with other bone complications. A 21-year-old female with sickle cell disease was presenting frequently to the medical casualty department for painful vasoocclusive crises and for persistent ankle pain and swelling. Hybrid imaging with single-photon emission computed tomography-computed tomography (SPECT-CT) incidentally revealed Brodie's abscess in the talus bone of the ankle, causing persisting long-standing pain. SPECT-CT is a modern technology used to scan bone to detect both anatomical and functional abnormalities with high specificity. Brodie's abscess is a rare bone inflammation that could be a hidden cause of pain and infection in sickle cell disease. Although rare, this lesion requires more attention in patients with sickle cell disease because their immunocompromised status renders them prone to this infection

  8. Precision of SPECT/CT allows the diagnosis of a hidden Brodie's abscess of the talus in a patient with sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Al jafar, Hassan [Dept. of Hematology, Amiri Hospital, Kuwait (Kuwait); Al Shemmeri, Eman [Dept. of Nuclear Medicine, Farwaniya Hospital, Al-Farwania (Kuwait); Al Shemmeri, Jehan; Al Enizi, Saud [Faculty of Medicine, Nuclear Medicine Dept, Kuwait University, Kuwait (Kuwait); Aytglu, Leena [Molecular Imaging Center, Jaber Al-Ahmad Center, Kuwait (Kuwait); Afzai, Uzma [Dept. of Nuclear Medicine, Farwaniya Hospital, Al-Farwania (Kuwait)

    2015-06-15

    Brodie's abscess is a rare subacute osteomyelitis that can be found in sickle cell disease along with other bone complications. A 21-year-old female with sickle cell disease was presenting frequently to the medical casualty department for painful vasoocclusive crises and for persistent ankle pain and swelling. Hybrid imaging with single-photon emission computed tomography-computed tomography (SPECT-CT) incidentally revealed Brodie's abscess in the talus bone of the ankle, causing persisting long-standing pain. SPECT-CT is a modern technology used to scan bone to detect both anatomical and functional abnormalities with high specificity. Brodie's abscess is a rare bone inflammation that could be a hidden cause of pain and infection in sickle cell disease. Although rare, this lesion requires more attention in patients with sickle cell disease because their immunocompromised status renders them prone to this infection.

  9. Inhibitor treatment of peripheral mononuclear cells from Parkinson’s disease patients further validates LRRK2 dephosphorylation as a pharmacodynamic biomarker

    Science.gov (United States)

    Perera, G.; Ranola, M.; Rowe, D. B.; Halliday, G. M.; Dzamko, N.

    2016-01-01

    Activating mutations in leucine-rich repeat kinase 2 (LRRK2) are strongly associated with increased risk of Parkinson’s disease (PD). Thus, LRRK2 kinase inhibitors are in development as potential Parkinson’s disease therapeutics. A reduction in the constitutive levels of phosphorylation on leucine-rich repeat kinase 2 (LRRK2) is currently used to measure target engagement of LRRK2 kinase inhibitors in cell and animal models. We aimed to determine if reduced phosphorylation of LRRK2 following inhibitor treatment is also a valid measure of target engagement in peripheral mononuclear cells from Parkinson’s disease patients. Peripheral mononuclear cells from idiopathic Parkinson’s disease patients and controls were treated ex vivo with two structurally distinct inhibitors of LRRK2, at four different doses, and immunoblotting was used to assess the reduction in LRRK2 phosphorylation at Ser910, Ser935, Ser955 and Ser973. Both inhibitors showed no acute toxicity in primary cells and both inhibitors reduced the constitutive phosphorylation of LRRK2 at all measured residues equally in both control and Parkinson’s disease groups. Measuring the reduction in LRRK2 phosphorylation resulting from LRRK2 kinase inhibition, is thus a valid measure of acute peripheral target engagement in Parkinson’s disease patients. This is important if LRRK2 kinase inhibitors are to be used in a clinical setting. PMID:27503089

  10. Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder.

    Science.gov (United States)

    Humeau, Camille; Monjanel, Hélène; Schellenberg, François

    2016-06-01

    Gamma-heavy chains disease is a rare disease, with very few cases described in the literature. It is characterized by the presence of a monoclonal gamma-heavy chain without associated light chain. Its prevalence and prognosis are unknown. We report here the accidental discovery of a case of gamma-heavy chain disease during a pancytopenia exploration, performed in the hospital, in a patient known since 2002 for a lymphoplasmacytic type lymphoma first localized in bone marrow. PMID:27237805

  11. Fetal Hemoglobin in Tunisian Sickle Cell Disease Patient: Relationship with Polymorphic Sequences Cis to the β-Globin Gene.

    Science.gov (United States)

    Moumni, Imen; Ben Mustapha, Maha; Ben Mansour, Ikbel; Zoraï, Amine; Douzi, Kaïs; Sassi, Sarah; Chaouachi, Dorra; Mellouli, Fethi; Bejaoui, Mohamed; Abbes, Salem

    2016-03-01

    Fetal hemoglobin (HbF) plays a dominant role in ameliorating morbidity and mortality of hemoglobinopathies. We evaluated the effects of polymorphic markers within the β-globin gene cluster to identify the genetic mechanics that influence HbF on Tunisian sickling patients (n = 242). Haplotype analysis was carried out by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the framework polymorphism was established by PCR-sequencing, four independent regions of interest were identified: the 5' region of β-LCR-HS2 site, the intervening sequence II (IVSII) region of two fetal (Gγ and Aγ) genes and the 5' region of β-globin gene. The correlation of these various Haplotypes and SNPs with HbF expression and clinical data was studied. Our data showed that among the various polymorphic markers analyzed, only the sequence (AT)xN12(AT)y in LCR HS2 region was significantly associated (p sickle cell patients. This study can improve understanding of the physiopathology of the disease and aid to increase our ability to predict clinical severity. PMID:26855518

  12. Inhibitory Effect of Natural Anti-Inflammatory Compounds on Cytokines Released by Chronic Venous Disease Patient-Derived Endothelial Cells

    Directory of Open Access Journals (Sweden)

    Veronica Tisato

    2013-01-01

    Full Text Available Large vein endothelium plays important roles in clinical diseases such as chronic venous disease (CVD and thrombosis; thus to characterize CVD vein endothelial cells (VEC has a strategic role in identifying specific therapeutic targets. On these bases we evaluated the effect of the natural anti-inflammatory compounds α-Lipoic acid and Ginkgoselect phytosome on cytokines/chemokines released by CVD patient-derived VEC. For this purpose, we characterized the levels of a panel of cytokines/chemokines (n=31 in CVD patients’ plasma compared to healthy controls and their release by VEC purified from the same patients, in unstimulated and TNF-α stimulated conditions. Among the cytokines/chemokines released by VEC, which recapitulated the systemic profile (IL-8, TNF-α, GM-CSF, INF-α2, G-CSF, MIP-1β, VEGF, EGF, Eotaxin, MCP-1, CXCL10, PDGF, and RANTES, we identified those targeted by ex vivo treatment with α-Lipoic acid and/or Ginkgoselect phytosome (GM-CSF, G-CSF, CXCL10, PDGF, and RANTES. Finally, by investigating the intracellular pathways involved in promoting the VEC release of cytokines/chemokines, which are targeted by natural anti-inflammatory compounds, we documented that α-Lipoic acid significantly counteracted TNF-α-induced NF-κB and p38/MAPK activation while the effects of Ginkgo biloba appeared to be predominantly mediated by Akt. Our data provide new insights into the molecular mechanisms of CVD pathogenesis, highlighting new potential therapeutic targets.

  13. Apoptosis of Alveolar Wall Cells in Chronic Obstructive Pulmonary Disease Patients with Pulmonary Emphysema Is Involved in Emphysematous Changes

    Institute of Scientific and Technical Information of China (English)

    Hongmei LIU; Lijun MA; Jizhen WU; Kai WANG; Xianliang CHEN

    2009-01-01

    s of alveolar wall cells, espe-cially apoptosis of type-Ⅱ cells, may take part in the pathogenesis of emphysema. Up-regulation of Bax expression may be responsible for the apoptosis of alveolar wall cells in the COPD patients with pulmonary emphysema.

  14. Markers of endothelial cell activation and immune activation are increased in patients with severe leptospirosis and associated with disease severity

    Science.gov (United States)

    Objectives: Previous studies concluded that haemorrhage is one of the most accurate prognostic factors of mortality in leptospirosis. Therefore, endothelial cell activation was investigated in relation to disease severity in severe leptospirosis. Methods: Prospective cohort study of severe leptospi...

  15. Cutoff Values of Serum IgG4 and Histopathological IgG4+ Plasma Cells for Diagnosis of Patients with IgG4-Related Disease

    OpenAIRE

    Hisanori Umehara; Susumu Sugai; Toshihiro Fukushima; Katumi Eguchi; Miyuki Miki; Masao Tanaka; Yoshimasa Fujita; Tomoyuki Sakai; Akio Nakajima; Haruka Iwao; Takafumi Kawanami; Takuji Nakamura; Hiroshi Minato; Naoto Umeda; Akira Hirabayashi

    2012-01-01

    IgG4-related disease is a new disease classification established in Japan in the 21st century. Patients with IgG4-related disease display hyper-IgG4-gammaglobulinemia, massive infiltration of IgG4+ plasma cells into tissue, and good response to glucocorticoids. Since IgG4 overexpression is also observed in other disorders, it is necessary to diagnose IgG4-related disease carefully and correctly. We therefore sought to determine cutoff values for serum IgG4 and IgG4/IgG and for IgG4+/IgG+ plas...

  16. T Cells in Predicting Acute Graft-Versus-Host Disease in Patients Undergoing Donor Stem Cell Transplant

    Science.gov (United States)

    2016-06-22

    Breast Cancer; Chronic Myeloproliferative Disorders; Gestational Trophoblastic Tumor; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Neuroblastoma; Ovarian Cancer; Testicular Germ Cell Tumor

  17. Sickle cell disease and pregnancy: analysis of 34 patients followed at the Regional Blood Center of Ribeirão Preto, Brazil

    Directory of Open Access Journals (Sweden)

    Ana Cristina Silva-Pinto

    2014-10-01

    Full Text Available Objective: The objective of this study was to verify the evolution of pregnancies in sickle cell patients followed at one institution over a period of 12 years (January 2000 to June 2012. Methods: The study evaluated 34 pregnant women with sickle cell disease with a mean age of 23.9 ± 5.3 years. The incidence of obstetric complications, non-obstetric complications linked to sickle cell disease and complications in the newborn were analyzed. Results: A total of 26% of the cases reported previous miscarriages, 20% had preterm labor, 10% had pre-eclampsia, and 5% had gestational diabetes. Forty-one percent of the deliveries were cesarean sections and 29% of patients required blood transfusions. In respect to sickle cell disease, 62% of patients had vaso-occlusive crises, 29% had acute chest syndrome, 23% had urinary tract infection, 15% had impaired cardiac function and 6% developed pulmonary hypertension. Only one patient died in the postnatal period due to acute chest syndrome. The mean gestational age was 37.8 ± 2.63 weeks, and mean newborn weight was 2.809 ± 643.8 g. There were seven fetal losses, including three stillbirths and four miscarriages. The impact of transfusion therapy on the incidence of maternal–fetal complications during pregnancy was evaluated. Conclusions: Pregnancy in sickle cell patients is still associated with complications. Although no statistical difference was observed between transfused and non-transfused women, there were no deaths (fetal or maternal in transfused patients whereas one maternal death and three stillbirths occurred in non-transfused women. A larger study of sickle cell pregnant women will be necessary to elucidate the actual role of transfusion during pregnancy in sickle cell disease.

  18. Liver Cirrhosis in a Patient with Sickle Cell Trait (Hb Sβ+ Thalassemia without Other Known Causes of Hepatic Disease

    Directory of Open Access Journals (Sweden)

    Luca Santi

    2009-09-01

    Full Text Available Liver involvement in patients with sickle cell anemia/trait includes a wide range of alterations, from mild liver function test abnormalities to cirrhosis and acute liver failure. Approximately 15–30% of patients with sickle cell anemia present cirrhosis at autopsy. The pathogenesis of cirrhosis is usually related to chronic hepatitis B or C infection or to iron overload resulting from the many transfusions received by these patients in their lifetime. Thus, cirrhosis has been described almost exclusively in patients with sickle cell anemia, while only mild liver abnormalities have been associated with the sickle cell trait. In the present case study, we describe a young Mediterranean man carrying a sickle cell trait (Hb Sβ+ thalassemia who developed liver cirrhosis being negative for hepatitis C and B viruses or for other causes of cirrhosis and not receiving chronic blood transfusions.

  19. Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.

    Science.gov (United States)

    Kano, S; Yuan, M; Cardarelli, R A; Maegawa, G; Higurashi, N; Gaval-Cruz, M; Wilson, A M; Tristan, C; Kondo, M A; Chen, Y; Koga, M; Obie, C; Ishizuka, K; Seshadri, S; Srivastava, R; Kato, T A; Horiuchi, Y; Sedlak, T W; Lee, Y; Rapoport, J L; Hirose, S; Okano, H; Valle, D; O'Donnell, P; Sawa, A; Kai, M

    2015-01-01

    Methodologies for generating functional neuronal cells directly from human fibroblasts [induced neuronal (iN) cells] have been recently developed, but the research so far has only focused on technical refinements or recapitulation of known pathological phenotypes. A critical question is whether this novel technology will contribute to elucidation of novel disease mechanisms or evaluation of therapeutic strategies. Here we have addressed this question by studying Tay-Sachs disease, a representative lysosomal storage disease, and Dravet syndrome, a form of severe myoclonic epilepsy in infancy, using human iN cells with feature of immature postmitotic glutamatergic neuronal cells. In Tay-Sachs disease, we have successfully characterized canonical neuronal pathology, massive accumulation of GM2 ganglioside, and demonstrated the suitability of this novel cell culture for future drug screening. In Dravet syndrome, we have identified a novel functional phenotype that was not suggested by studies of classical mouse models and human autopsied brains. Taken together, the present study demonstrates that human iN cells are useful for translational neuroscience research to explore novel disease mechanisms and evaluate therapeutic compounds. In the future, research using human iN cells with well-characterized genomic landscape can be integrated into multidisciplinary patient-oriented research on neuropsychiatric disorders to address novel disease mechanisms and evaluate therapeutic strategies. PMID:25732146

  20. Expression Profile of Human Fc Receptor-Like 1, 2, and 4 Molecules in Peripheral Blood Mononuclear Cells of Patients with Hashimoto's Thyroiditis and Graves' Disease.

    Science.gov (United States)

    Rostamzadeh, D; Dabbaghmanesh, M H; Shabani, M; Hosseini, A; Amirghofran, Z

    2015-08-01

    Recently identified Fc receptor-like (FCRL) molecules are new members of the immunoglobulin superfamily dominantly expressed by B cells. Although FCRL expression patterns have been studied in normal and malignant cells, their biological functions and roles remain to be clearly identified in humans. Research has particularly focused on FCRL gene polymorphisms in autoimmune diseases, however, their involvement in the pathogenesis of autoimmune diseases is an interesting field for investigation. In the present study, we have investigated the gene expression profiles of FCRL1, 2, and 4 in 2 common thyroid diseases, Hashimoto's thyroiditis (HT) and Graves' disease (GD). FCRL1, 2, and 4 expressions were determined in peripheral blood samples of 55 HT patients, 40 GD patients and equal numbers of normal subjects by quantitative real-time PCR. Our results showed downregulation of FCRL1 and upregulation of FCRL2 transcripts in both HT and GD groups compared to healthy counterparts. Overexpression of FCRL4 was observed only in GD patients compared to controls. A significant correlation was observed between all FCRL gene expression levels in HT patients. Only FCRL2 and 4 had a correlation in GD patients. In addition, FCRL1, 2, and 4 gene expressions showed no correlations with the level of anti-thyroid peroxidase antibody (anti-TPO) or anti-thyroglobulin (anti-Tg) antibody from patients' sera. In conclusion, expressions of activating or inhibitory FCRL1, 2, and 4 showed significant alterations in HT and GD patients compared to healthy subjects. PMID:25738996

  1. Fluctuations in anti-nRNP levels in patients with mixed connective tissue disease are related to disease activity as part of a polyclonal B cell response.

    OpenAIRE

    Houtman, P M; Kallenberg, C. G.; Limburg, P C; Leeuwen, M.A. van; van Rijswijk, M H; The, T H

    1986-01-01

    In a follow up study of 11 patients with mixed connective tissue disease the levels of antibodies to nuclear ribonucleoprotein (nRNP) as measured by an enzyme linked immunosorbent assay (ELISA) were related to clinical activity of disease. To assess the relation between anti-nRNP levels and disease activity the levels of total immunoglobulin G, IgM rheumatoid factor (IgM RF), and antibodies to an unrelated antigen (tetanus toxoid) were determined simultaneously. No significant changes in anti...

  2. Low Rate of Detection of Mucosal High-Risk-Type Human Papillomavirus in Korean Patients with Extragenital Bowen's Disease and Squamous Cell Carcinoma, Especially in Digital Cases

    OpenAIRE

    Hye-Rim Park; Kwang Ho Kim; Soo Kee Min; Jinwon Seo; Dong Hoon Kim; Mi Jung Kwon

    2013-01-01

    Human papillomavirus (HPV) infection has been demonstrated in some of the nonmelanoma skin cancers as well as in precancerous lesions. Multiple infections of mucosal high-risk HPV may contribute to the onset of digital Bowen's disease through, if any, digital-genital transmission. We screened for the presence of the mucosal HPV DNA in patients with extragenital Bowen's disease (n = 30), squamous cell carcinoma (n = 11), bowenoid papulosis (n = 9), verrucous carcinoma (n = 1), actinic keratosi...

  3. SUPPLEMENTATION OF PATIENTS WITH HOMOZYGOUS SICKLE-CELL DISEASE WITH ZINC, ALPHA-TOCOPHEROL, VITAMIN-C, SOYBEAN OIL, AND FISH OIL

    NARCIS (Netherlands)

    MUSKIET, FAJ; MUSKIET, FD; MEIBORG, G; SCHERMER, JG

    1991-01-01

    Thirteen patients (aged 0.7-17.9 y) with homozygous sickle cell disease were supplemented with alpha-tocopherol, vitamin C, zinc, and soybean oil (suppl 1; for 8 mo) and alpha-tocopherol, vitamin C, and fish oil (suppl 2; for 7 mo). Urinary zinc (suppl 1), plasma vitamin C, plasma cholesterol ester

  4. Impact of cervical disease and its definitive radiotherapeutic management on survival: Experience in 2013 patients with squamous cell carcinomas of the oropharynx and pharyngolarynx

    Energy Technology Data Exchange (ETDEWEB)

    Bataini, J.P.; Bernier, J.; Jaulerry, C.; Brunin, F.; Pontvert, D. (Institut Curie, Paris (France))

    1990-07-01

    Two thousand thirteen patients with squamous cell carcinoma of oropharynx and pharyngolarynx were reviewed with regard to neck disease presentation and disease-free survival after radical radiotherapy. All patients were staged according to both the AJCC 1976 and the UICC 1978 classifications. Causes of failure, disease-free survival, and complication rates were assessed. Sixty percent had a clinically positive neck. The 3-year disease-free survival rates were 58%, 44%, 38%, and 25% for AJCC N0, N1, N2, and N3 cases, respectively. Corresponding UICC figures were 58%, 46%, 26%, and 29%. Analyzed parameters were nodal stage, size, site and fixity, and location of primary. Complications attributed to neck disease did not exceed 3%. A critical appraisal of the nodal staging systems is derived from these sets of data.

  5. Impact of cervical disease and its definitive radiotherapeutic management on survival: Experience in 2013 patients with squamous cell carcinomas of the oropharynx and pharyngolarynx

    International Nuclear Information System (INIS)

    Two thousand thirteen patients with squamous cell carcinoma of oropharynx and pharyngolarynx were reviewed with regard to neck disease presentation and disease-free survival after radical radiotherapy. All patients were staged according to both the AJCC 1976 and the UICC 1978 classifications. Causes of failure, disease-free survival, and complication rates were assessed. Sixty percent had a clinically positive neck. The 3-year disease-free survival rates were 58%, 44%, 38%, and 25% for AJCC N0, N1, N2, and N3 cases, respectively. Corresponding UICC figures were 58%, 46%, 26%, and 29%. Analyzed parameters were nodal stage, size, site and fixity, and location of primary. Complications attributed to neck disease did not exceed 3%. A critical appraisal of the nodal staging systems is derived from these sets of data

  6. Clofarabine Combined with Busulfan Provides Excellent Disease Control in Adult Patients with Acute Lymphoblastic Leukemia Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

    OpenAIRE

    Kebriaei, P.; Basset, Roland; Ledesma, C.; Ciurea, S; Parmar, S.; Shpall, EJ; Hosing, C.; Khouri, Issa; Qazilbash, M; Popat, U; Alousi, A.; Nieto, Y; Jones, RB; Lima, M.; Champlin, RE

    2012-01-01

    We investigated the safety and early disease-control data obtained with intravenous busulfan (Bu) combined with clofarabine (Clo) in patients with acute lymphoblastic leukemia (ALL) undergoing allogeneic hematopoietic stem cell transplantation (SCT). Fifty-one patients with median age 36 years (range 20–64) received a matched sibling (n=24), syngeneic (n=2) or matched unrelated donor transplant (n=25) for ALL in first complete remission (n=30), second complete remission (n=13), or with active...

  7. Cocaine enhances HIV-1-induced CD4(+) T-cell apoptosis: implications in disease progression in cocaine-abusing HIV-1 patients.

    Science.gov (United States)

    Pandhare, Jui; Addai, Amma B; Mantri, Chinmay K; Hager, Cynthia; Smith, Rita M; Barnett, Louis; Villalta, Fernando; Kalams, Spyros A; Dash, Chandravanu

    2014-04-01

    Substance abuse is a major barrier in eradication of the HIV epidemic because it serves as a powerful cofactor for viral transmission, disease progression, and AIDS-related mortality. Cocaine, one of the commonly abused drugs among HIV-1 patients, has been suggested to accelerate HIV disease progression. However, the underlying mechanism remains largely unknown. Therefore, we tested whether cocaine augments HIV-1-associated CD4(+) T-cell decline, a predictor of HIV disease progression. We examined apoptosis of resting CD4(+) T cells from HIV-1-negative and HIV-1-positive donors in our study, because decline of uninfected cells plays a major role in HIV-1 disease progression. Treatment of resting CD4(+) T cells with cocaine (up to 100 μmol/L concentrations) did not induce apoptosis, but 200 to 1000 μmol/L cocaine induced apoptosis in a dose-dependent manner. Notably, treatment of CD4(+) T cells isolated from healthy donors with both HIV-1 virions and cocaine significantly increased apoptosis compared with the apoptosis induced by cocaine or virions alone. Most important, our biochemical data suggest that cocaine induces CD4(+) T-cell apoptosis by increasing intracellular reactive oxygen species levels and inducing mitochondrial depolarization. Collectively, our results provide evidence of a synergy between cocaine and HIV-1 on CD4(+) T-cell apoptosis that may, in part, explain the accelerated disease observed in HIV-1-infected drug abusers. PMID:24486327

  8. Partial exchange transfusion in a patient with homozygous sickle cell disease undergoing heart surgery with cardiopulmonary bypass: a case report

    OpenAIRE

    Deyvis Cruz

    2012-01-01

    In patients with sickle cell anemia, the extracorporeal circulation circuit promotes the polymerization of hemoglobin and sickle cell formation. Exchange transfusion reduces circulating levels of hemoglobin S. We report the management of a child with homozygous sickle cell anemia who required surgical closure of atrial septal defect. Partial intraoperative exchange transfusion was performed that decreased hemoglobin S levels from 89% to 23%. Cardiopulmonary bypass was conducted at normothermi...

  9. Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.

    Science.gov (United States)

    Turan, Soeren; Farruggio, Alfonso P; Srifa, Waracharee; Day, John W; Calos, Michele P

    2016-04-01

    Limb girdle muscular dystrophies types 2B (LGMD2B) and 2D (LGMD2D) are degenerative muscle diseases caused by mutations in the dysferlin and alpha-sarcoglycan genes, respectively. Using patient-derived induced pluripotent stem cells (iPSC), we corrected the dysferlin nonsense mutation c.5713C>T; p.R1905X and the most common alpha-sarcoglycan mutation, missense c.229C>T; p.R77C, by single-stranded oligonucleotide-mediated gene editing, using the CRISPR/Cas9 gene-editing system to enhance the frequency of homology-directed repair. We demonstrated seamless, allele-specific correction at efficiencies of 0.7-1.5%. As an alternative, we also carried out precise gene addition strategies for correction of the LGMD2B iPSC by integration of wild-type dysferlin cDNA into the H11 safe harbor locus on chromosome 22, using dual integrase cassette exchange (DICE) or TALEN-assisted homologous recombination for insertion precise (THRIP). These methods employed TALENs and homologous recombination, and DICE also utilized site-specific recombinases. With DICE and THRIP, we obtained targeting efficiencies after selection of ~20%. We purified iPSC corrected by all methods and verified rescue of appropriate levels of dysferlin and alpha-sarcoglycan protein expression and correct localization, as shown by immunoblot and immunocytochemistry. In summary, we demonstrate for the first time precise correction of LGMD iPSC and validation of expression, opening the possibility of cell therapy utilizing these corrected iPSC. PMID:26916285

  10. Retinal nerve fiber layer and ganglion cell complex thickness assessment in patients with Alzheimer disease and mild cognitive impairment. Preliminary results

    Directory of Open Access Journals (Sweden)

    A. S. Tiganov

    2014-07-01

    Full Text Available Purpose: to investigate the retinal nerve fiber layer (RNFL and the macular ganglion cell complex (GCC in patients with Alzheimer`s disease and mild cognitive impairment.Methods: this study included 10 patients (20 eyes with Alzheimer`s disease, 10 patients with mild cognitive impairment and 10 age- and sex-matched healthy controls that had no history of dementia. All the subjects underwent psychiatric examination, including the Mini-Mental State Examination (MMSE, and complete ophthalmological examination, comprising optical coherence tomography and scanning laser polarimetry.Results: there was a significant decrease in GCC thickness in patients with Alzheimer`s disease compared to the control group, global loss volume of ganglion cells was higher than in control group. there was no significant difference among the groups in terms of RNFL thickness. Weak positive correlation of GCC thickness and MMSE results was observed.Conclusion: Our data confirm the retinal involvement in Alzheimer`s disease, as reflected by loss of ganglion cells. Further studies will clear up the role and contribution of dementia in pathogenesis of optic neuropathy.

  11. Increased percentage of CD8 CD28– suppressor lymphocytes in peripheral blood and skin infiltrates correlates with advanced disease in patients with cutaneous T-cell lymphomas

    OpenAIRE

    Donata Urbaniak-Kujda; Katarzyna Kapelko-Słowik; Dariusz Wołowiec; Jarosław Dybko; Agnieszka Hałoń; Bo��ena Jaźwiec; Joanna Maj; Alina Jankowska-Konsur; Kazimierz Kuliczkowski

    2009-01-01

    Introduction: T cells with the CD8 CD28– phenotype are CD8 lymphocytes with regulatory function. Their increased numbers were observed in infections, autoimmune and neoplastic diseases, and in elderly healthy individuals. CD8 CD28– lymphocyte levels in patients with cutaneous T-cell lymphoma (CTCL) has not yet been described. The aim of the study was to determine their levels in these patients’ peripheral blood and cutaneous infiltrates and their relation to the clinical stage of disease.Mat...

  12. Does thyroidectomy, radioactive iodine therapy, or antithyroid drug treatment alter reactivity of patients` T cells to epitopes of thyrotropin receptor in autoimmune thyroid diseases?

    Energy Technology Data Exchange (ETDEWEB)

    Soliman, M.; Kaplan, E.; Abdel-Latif, A. [Univ. of Chicago, IL (United States)] [and others

    1995-08-01

    The effect of treatment on thyroid antibody production and T cell reactivity to thyroid antigens was studied in 15 patients with Graves` disease (GD) before and after thyroidectomy, 19 patients with GD before and after radioactive iodine (RAI) therapy, and 9 patients maintained euthyroid on antithyroid drugs (ATD). In GD patients, the responses of peripheral blood mononuclear cells (PBMC) and TSH receptor (TSHR)-specific T cell lines to recombinant human TSHR extracellular domain, thyroglobulin, and TSHR peptides were examined on the day of surgery or RAI therapy (day 0) and also 6-8 weeks and 3-6 months thereafter. Reactivity to TSHR peptides before surgery was heterogeneous and spanned the entire extracellular domain. Six to 8 weeks after subtotal thyroidectomy, the number of patients` PBMC responding to any peptide and the average number of recognized peptides decreased. A further decrease in the T cell reactivity to TSHR peptides was observed 3-6 months after surgery. The responses of PBMC from Graves` patients before RAI therapy were less than those in the presurgical group. Six to 8 weeks after RAI therapy, the number of patients responding to any peptide and the average number of recognized peptides increased. Three to 6 months after RAI, T cell responses to TSHR peptides were less than those 6-8 weeks after RAI therapy, but still higher than the values on day 0. Responses of PBMC from patients with GD, maintained euthyroid on ATD, were lower than those before surgery or RAI therapy. The reactivity of T cell lines in different groups reflected a pattern similar to PBMC after treatment. TSHR antibody and microsomal antibody levels decreased after surgery, but increased after RAI therapy. The difference in the number of recognized peptides by patients` PBMC before RAI and surgery may reflect the effect of long term therapy with ATD in the patients before RAI vs. the shorter period in patients before surgery. 38 refs., 2 figs., 5 tabs.

  13. Does thyroidectomy, radioactive iodine therapy, or antithyroid drug treatment alter reactivity of patients' T cells to epitopes of thyrotropin receptor in autoimmune thyroid diseases?

    International Nuclear Information System (INIS)

    The effect of treatment on thyroid antibody production and T cell reactivity to thyroid antigens was studied in 15 patients with Graves' disease (GD) before and after thyroidectomy, 19 patients with GD before and after radioactive iodine (RAI) therapy, and 9 patients maintained euthyroid on antithyroid drugs (ATD). In GD patients, the responses of peripheral blood mononuclear cells (PBMC) and TSH receptor (TSHR)-specific T cell lines to recombinant human TSHR extracellular domain, thyroglobulin, and TSHR peptides were examined on the day of surgery or RAI therapy (day 0) and also 6-8 weeks and 3-6 months thereafter. Reactivity to TSHR peptides before surgery was heterogeneous and spanned the entire extracellular domain. Six to 8 weeks after subtotal thyroidectomy, the number of patients' PBMC responding to any peptide and the average number of recognized peptides decreased. A further decrease in the T cell reactivity to TSHR peptides was observed 3-6 months after surgery. The responses of PBMC from Graves' patients before RAI therapy were less than those in the presurgical group. Six to 8 weeks after RAI therapy, the number of patients responding to any peptide and the average number of recognized peptides increased. Three to 6 months after RAI, T cell responses to TSHR peptides were less than those 6-8 weeks after RAI therapy, but still higher than the values on day 0. Responses of PBMC from patients with GD, maintained euthyroid on ATD, were lower than those before surgery or RAI therapy. The reactivity of T cell lines in different groups reflected a pattern similar to PBMC after treatment. TSHR antibody and microsomal antibody levels decreased after surgery, but increased after RAI therapy. The difference in the number of recognized peptides by patients' PBMC before RAI and surgery may reflect the effect of long term therapy with ATD in the patients before RAI vs. the shorter period in patients before surgery. 38 refs., 2 figs., 5 tabs

  14. Invariant Natural Killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C

    OpenAIRE

    Speak, Anneliese O; Platt, Nicholas; Salio, Mariolina; te Vruchte, Danielle Taylor; Smith, David A.; Shepherd, Dawn; Veerapen, Natacha; Besra, Gurdyal; Yanjanin, Nicole M.; Simmons, Louise; Imrie, Jackie; Wraith, James E.; Lachmann, Robin; Hartung, Ralf; Runz, Heiko

    2012-01-01

    Invariant Natural Killer T (iNKT) cells are a specialised subset of T cells that are restricted to the MHC class I like molecule, CD1d. The ligands for iNKT cells are lipids, with the canonical superagonist being α-galactosylceramide, a non-mammalian glycosphingolipid. Trafficking of CD1d through the lysosome is required for the development of murine iNKT cells. Niemann-Pick type C (NPC) disease is a lysosomal storage disorder caused by dysfunction in either of two lysosomal proteins, NPC1 or...

  15. Exome Sequencing of Cell-Free DNA from Metastatic Cancer Patients Identifies Clinically Actionable Mutations Distinct from Primary Disease

    OpenAIRE

    Butler, Timothy M.; Johnson-Camacho, Katherine; Peto, Myron; Wang, Nicholas J.; Macey, Tara A.; Korkola, James E.; Koppie, Theresa M.; Corless, Christopher L.; Joe W. Gray; Spellman, Paul T

    2015-01-01

    The identification of the molecular drivers of cancer by sequencing is the backbone of precision medicine and the basis of personalized therapy; however, biopsies of primary tumors provide only a snapshot of the evolution of the disease and may miss potential therapeutic targets, especially in the metastatic setting. A liquid biopsy, in the form of cell-free DNA (cfDNA) sequencing, has the potential to capture the inter- and intra-tumoral heterogeneity present in metastatic disease, and, thro...

  16. Derivation, Characterization, and Neural Differentiation of Integration-Free Induced Pluripotent Stem Cell Lines from Parkinson's Disease Patients Carrying SNCA, LRRK2, PARK2, and GBA Mutations

    DEFF Research Database (Denmark)

    Momcilovic, Olga; Sivapatham, Renuka; Oron, Tal Ronnen;

    2016-01-01

    We report generation of induced pluripotent stem cell (iPSC) lines from ten Parkinson's disease (PD) patients carrying SNCA, PARK2, LRRK2, and GBA mutations, and one age-matched control. After validation of pluripotency, long-term genome stability, and integration-free reprogramming, eight of these...... lines (one of each SNCA, LRRK2 and GBA, four PARK2 lines, and the control) were differentiated into neural stem cells (NSC) and subsequently to dopaminergic cultures. We did not observe significant differences in the timeline of neural induction and NSC derivation between the patient and control line...

  17. Sensitivity of whole-body CT and MRI versus projection radiography in the detection of osteolyses in patients with monoclonal plasma cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Wolf, Maya B., E-mail: m.mueller-wolf@dkfz.de [Department of Diagnostic and Interventional Radiology, University Hospital Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg Germany (Germany); Department of Radiology, German Cancer Research Center (Dkfz), Im Neuenheimer Feld 280, 69120 Heidelberg (Germany); Murray, Fritz, E-mail: fritz.murray@hotmail.de [Department of Diagnostic and Interventional Radiology, University Hospital Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg Germany (Germany); Kilk, Kerstin, E-mail: k_fechtner@hotmail.com [Department of Diagnostic and Interventional Radiology, University Hospital Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg Germany (Germany); Hillengass, Jens, E-mail: jens.hillengass@med.uni-heidelberg.de [Department of Haematology, Oncology, Rheumatology, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg (Germany); Delorme, Stefan, E-mail: s.delorme@dkfz-heidelberg.de [Department of Radiology, German Cancer Research Center (Dkfz), Im Neuenheimer Feld 280, 69120 Heidelberg (Germany); Heiss, Christiane, E-mail: c.heiss@dkfz-heidelberg.de [Department of Biostatistics, German Cancer Research Center (Dkfz), Im Neuenheimer Feld 280, 69120 Heidelberg (Germany); Neben, Kai, E-mail: k.neben@klinikum-mittelbaden.de [Department of Haematology, Oncology, Rheumatology, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg (Germany); Goldschmidt, Hartmut, E-mail: hartmut.goldschmidt@med.uni-heidelberg.de [Department of Haematology, Oncology, Rheumatology, University Hospital Heidelberg and National Center for Tumour Diseases, Im Neuenheimer Feld 410, 69120 Heidelberg (Germany); Kauczor, Hans-Ulrich, E-mail: hu.kauczor@med.uni-heidelberg.de [Department of Diagnostic and Interventional Radiology, University Hospital Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg Germany (Germany); and others

    2014-07-15

    Purpose: To compare sensitivity of whole-body Computed Tomography (wb-CT) and whole-body Magnetic Resonance Imaging (wb-MRI) with Projection Radiography (PR) regarding each method's ability to detect osteolyses in patients with monoclonal plasma cell disease. Patients and methods: The bone status of 171 patients was evaluated. All patients presented with multiple myeloma (MM) of all stages, monoclonal gammopathy of unknown significance (MGUS) or solitary plasmacytoma. Two groups were formed. Group A consisted of 52 patients (26 females, 26 males) with an average age of 62 years (range, 45–89 years) who received, both, PR and wb-CT as part of their diagnostic work-up. Group B comprised 119 patients (58 females, 61 males) averaging 57 years of age (range, 20–80 years) who received, both, PR and wb-MRI. Two experienced radiologists were blinded regarding the disease status and assessed the number and location of osteolyses in consensus. A distinction was made between axial and extra-axial lesions. Results: In group A, wb-CT revealed osteolyses in 12 patients (23%) that were not detected in PR. CT was superior in detecting lesions in patients with osteopenia and osteoporosis. Compared with PR, wb-CT was significantly more sensitive in detecting osteolyses than PR (p < 0.001). This was particularly true for axial lesions. Additionally, CT revealed clinically relevant incidental findings in 33 patients (63%). In group B, wb-MRI revealed lesions in 19 patients (16%) that were not detected in PR. All lesions detected by PR were also detected by wb-MRI and wb-CT. Wb-MRI and wb-CT are each superior to PR in detecting axial lesions. Conclusion: Wb-CT can detect 23% more focal lesions than PR, especially in the axial skeleton. Therefore, this imaging method should be preferred over PR in the diagnostic work-up and staging of patients with monoclonal plasma cell disease.

  18. Sensitivity of whole-body CT and MRI versus projection radiography in the detection of osteolyses in patients with monoclonal plasma cell disease

    International Nuclear Information System (INIS)

    Purpose: To compare sensitivity of whole-body Computed Tomography (wb-CT) and whole-body Magnetic Resonance Imaging (wb-MRI) with Projection Radiography (PR) regarding each method's ability to detect osteolyses in patients with monoclonal plasma cell disease. Patients and methods: The bone status of 171 patients was evaluated. All patients presented with multiple myeloma (MM) of all stages, monoclonal gammopathy of unknown significance (MGUS) or solitary plasmacytoma. Two groups were formed. Group A consisted of 52 patients (26 females, 26 males) with an average age of 62 years (range, 45–89 years) who received, both, PR and wb-CT as part of their diagnostic work-up. Group B comprised 119 patients (58 females, 61 males) averaging 57 years of age (range, 20–80 years) who received, both, PR and wb-MRI. Two experienced radiologists were blinded regarding the disease status and assessed the number and location of osteolyses in consensus. A distinction was made between axial and extra-axial lesions. Results: In group A, wb-CT revealed osteolyses in 12 patients (23%) that were not detected in PR. CT was superior in detecting lesions in patients with osteopenia and osteoporosis. Compared with PR, wb-CT was significantly more sensitive in detecting osteolyses than PR (p < 0.001). This was particularly true for axial lesions. Additionally, CT revealed clinically relevant incidental findings in 33 patients (63%). In group B, wb-MRI revealed lesions in 19 patients (16%) that were not detected in PR. All lesions detected by PR were also detected by wb-MRI and wb-CT. Wb-MRI and wb-CT are each superior to PR in detecting axial lesions. Conclusion: Wb-CT can detect 23% more focal lesions than PR, especially in the axial skeleton. Therefore, this imaging method should be preferred over PR in the diagnostic work-up and staging of patients with monoclonal plasma cell disease

  19. [Central diabetes insipidus in adult patients--the first sign of Langerhans cell histiocytosis and Erdheim-Chester disease. Three case studies and literature review].

    Science.gov (United States)

    Adam, Z; Balsíková, K; Krejcí, M; Pour, L; Stĕpánková, S; Svacina, P; Hermanová, M; Vanícek, J; Krupa, P; Stanícek, J; Koukalová, R; Neubauer, J; Krivanová, A; Mayer, J; Hájek, R

    2010-02-01

    Central diabetes insipidus with an onset in adulthood is very rare. Unlike in children, central diabetes insipidus in adults is more frequently caused by inflammatory processes and neoplastic infiltrations that do not originate from the neuronal tissue than primary neuronal tissue tumours. Rare histiocytic neoplasias (Langerhans cell histiocytosis, xanthogranulomatosis and Erdheim-Chester disease) have a specific affinity to hypothalamus and the pituitary stalk not only in paediatric patients but also when occurring in adults. We describe 3 cases of central diabetes insipidus with an onset in adulthood. Diabetes insipidus was the first sign of Langerhans cell histiocytosis in 2 patients, and it was the first sign of Erdheim-Chester disease in one patient. MR imaging showed pathological infiltration and dilated pituitary stalks in all 3 patients. PET-CT proved useful in differential diagnosis, showing further extracranial pathological changes either on the basis of significant glucose accumulation or on the basis of CT imaging. The Langerhans cell histiocytosis in the first patient has also manifested itself as an infiltration of the perianal area with intensive accumulation of fluorodeoxyglucose (FDG) - SUV 8.6 and gingival inflammation indistinguishable from parodontosis. Histology of the perianal infiltrate confirmed Langerhans cell histiocytosis. Infiltration of the pituitary stalk disappeared from the MR image after 4 cycles of 2-chlordeoxyadenosin (5 mg/m2 5 consecutive days). The PET-CT of the 2nd patient showed only borderline accumulation of FDG in the ENT area, while simultaneously performed CT imaging showed cystic restructuring of the pulmonary parenchyma and nodulations consistent with pulmonary Langerhans cell histiocytosis. Bronchoalveolar lavage identified higher number of CD1 and S100 positive elements, consistent, once again, with pulmonary LCH also affecting pituitary stalk and ear canal. The PET-CT of the third patient showed increased activity

  20. Mitochondrial Alterations in Peripheral Mononuclear Blood Cells from Alzheimer’s Disease and Mild Cognitive Impairment Patients

    OpenAIRE

    Delbarba, A.; Abate, G; Prandelli, C; Marziano, M.; Buizza, L.; Arce Varas, N.; Novelli, A.; Cuetos, F.; Martinez, C.; C. Lanni; Memo, M.; Uberti, D.

    2016-01-01

    It is well recognized that mitochondrial dysfunction contributes to neurodegeneration occurring in Alzheimer's disease (AD). However, evidences of mitochondrial defects in AD peripheral cells are still inconclusive. Here, some mitochondrial-encoded and nuclear-encoded proteins, involved in maintaining the correct mitochondria machine, were investigated in terms of protein expression and enzymatic activity in peripheral blood mononuclear cells (PBMCs) isolated from AD and Mild Cognitive Impair...

  1. Mast cells in rheumatic disease.

    Science.gov (United States)

    Suurmond, Jolien; van der Velden, Daniël; Kuiper, Johan; Bot, Ilze; Toes, René E M

    2016-05-01

    Rheumatoid Arthritis is a chronic autoimmune disease with a complex disease pathogenesis leading to inflammation and destruction of synovial tissue in the joint. Several molecules lead to activation of immune pathways, including autoantibodies, Toll-Like Receptor ligands and cytokines. These pathways can cooperate to create the pro-inflammatory environment that results in tissue destruction. Each of these pathways can activate mast cells, inducing the release of a variety of inflammatory mediators, and in combination can markedly enhance mast cell responses. Mast cell-derived cytokines, chemokines, and proteases have the potential to induce recruitment of other leukocytes able to evoke tissue remodeling or destruction. Likewise, mast cells can secrete a plethora of factors that can contribute to tissue remodeling and fibroblast activation. Although the functional role of mast cells in arthritis pathogenesis in mice is not yet elucidated, the increased numbers of mast cells and mast cell-specific mediators in synovial tissue of rheumatoid arthritis patients suggest that mast cell activation in rheumatoid arthritis may contribute to its pathogenesis. PMID:25943290

  2. DNA damage and apoptosis in blood neutrophils of inflammatory bowel disease patients and in Caco-2 cells in vitro exposed to betanin.

    Science.gov (United States)

    Zielińska-Przyjemska, Małgorzata; Olejnik, Anna; Dobrowolska-Zachwieja, Agnieszka; Łuczak, Michał; Baer-Dubowska, Wanda

    2016-01-01

    Inflammatory bowel diseases (IBD) are chronic, relapsing, inflammatory disorders of the gastrointestinal tract, and continuing colonic inflammation is considered an important risk factor in the development of colorectal cancer. Our previous studies showed that beetroot (Beta vulgaris var. rubra) products and their major component betanin modulate the reactive oxygen species (ROS) production and DNA damage in 12-O-tetradecanoylphorbol 13-acetate (TPA) stimulated human polymorphonuclear neutrophils of healthy volunteers. The aim of the present study was to evaluate the effects of betanin on the oxidative DNA damage and apoptosis in neutrophils isolated from blood of patients with inflammatory bowel disease--ulcerative colitis (UC) and Crohn's disease (CD). The results were compared with those obtained in colon carcinoma-derived Caco-2 cells. Betanin treatment at the concentration of 100 μM for 24 h increased DNA damage assessed by comet assay in IBD patients' neutrophils. A similar effect although less pronounced was observed in Caco-2 cells. Treatment of Caco-2 cells with H2O2 caused a 4-fold increase of DNA strand breaks in comparison to untreated cells, but pre-treatment with betanin reduced DNA damage in these cells. Betanin also induced procaspase-3 cleavage and caspase-3 activity accompanied by the loss of mitochondrial transmembrane potential, indicating its pro-apoptotic activity. These results suggest that betanin may support mechanisms that lead to the release of ROS and apoptotic cell death. In this way betanin may exert anti-inflammatory and potentially cancer preventive activity. PMID:27117102

  3. Iron overload in sickle cell disease.

    Science.gov (United States)

    Raghupathy, Radha; Manwani, Deepa; Little, Jane A

    2010-01-01

    In sickle cell disease transfusions improve blood flow by reducing the proportion of red cells capable of forming sickle hemoglobin polymer. This limits hemolysis and the endothelial damage that result from high proportions of sickle polymer-containing red cells. Additionally, transfusions are used to increase blood oxygen carrying capacity in sickle cell patients with severe chronic anemia or with severe anemic episodes. Transfusion is well-defined as prophylaxis (stroke) and as therapy (acute chest syndrome and stroke) for major complications of sickle cell disease and has been instituted, based on less conclusive data, for a range of additional complications, such as priapism, vaso-occlusive crises, leg ulcers, pulmonary hypertension, and during complicated pregnancies. The major and unavoidable complication of transfusions in sickle cell disease is iron overload. This paper provides an overview of normal iron metabolism, iron overload in transfused patients with sickle cell disease, patterns of end organ damage, diagnosis, treatment, and prevention of iron overload. PMID:20490352

  4. Eliminating Hairy Cell Leukemia Minimal Residual Disease

    Science.gov (United States)

    In this trial, patients with hairy cell leukemia who have disease-related symptoms that require treatment will be randomly assigned to receive cladribine with either concurrent rituximab or rituximab at least 6 months after completing cladribine therapy.

  5. Transcranial Doppler, MRA, and MRI as a screening examination for cerebrovascular disease in patients with sickle cell anemia: an 8-year study

    Energy Technology Data Exchange (ETDEWEB)

    Seibert, J.J.; Glasier, C.M.; Allison, J.W.; James, C.A.; Kinder, D.L.; Cox, K.S.; Lairry, F.; Graves, R.A. [Arkansas Children`s Hospital, Little Rock, AR (United States). Dept. of Radiology; Kirby, R.S.; Flick, E.L. [Center for Ambulatory Research, Univ. of Arkansas for Medical Sciences, Little Rock, AR (United States); Becton, D.L.; Jackson, F.J. [Dept. of Hematology, Univ. of Arkansas for Medical Sciences, Little Rock, AR (United States)

    1998-03-01

    Objective. The authors previously reported five transcranial Doppler ultrasonography (TCD) findings as significant in detecting clinical cerebrovascular disease in a 4-year study in patients with sickle cell disease. This is a follow-up to evaluate the validity of the original findings over another 4-year period during which the study population doubled. A clinical follow-up of the original asymptomatic sickle cell patients with positive TCD, MRA, and MRI was also made. Results. Of the 4 out of original 46 control patients in 1992 who had positive MRA and TCD, 3 have subsequently had clinical stroke. None of the 9 original patients with positive TCD and positive MRI but negative MRA have developed stroke. All five original TCD indicators of disease were still significant (P<0.05) for detecting clinical disease: maximum velocity in ophthalmic artery (OA)>35 cm/s, mean velocity in middle cerebral artery (MCA) >170 cm/s, resistive index (RI) in OA<50, velocity in OA greater than in MCA, and velocity in posterior cerebral (PCA), vertebral, or basilar arteries greater than in MCA. Four additional factors were also significant: turbulence, PCA or ACA without MCA, RI<30, and maximum velocity in MCA>200 cm/s. (orig.)

  6. Efficacy of Rapamycin as Inducer of Hb F in Primary Erythroid Cultures from Sickle Cell Disease and β-Thalassemia Patients.

    Science.gov (United States)

    Pecoraro, Alice; Troia, Antonio; Calzolari, Roberta; Scazzone, Concetta; Rigano, Paolo; Martorana, Adriana; Sacco, Massimiliano; Maggio, Aurelio; Di Marzo, Rosalba

    2015-01-01

    Phenotypic improvement of hemoglobinopathies such as sickle cell disease and β-thalassemia (β-thal) has been shown in patients with high levels of Hb F. Among the drugs proposed to increase Hb F production, hydroxyurea (HU) is currently the only one proven to improve the clinical course of these diseases. However, Hb F increase and patient's response are highly variable, indicating that new pharmacological agents could be useful for patients not responding to HU or showing a reduction of response during long-term therapy. In this study we evaluated the efficacy of rapamycin, a lypophilic macrolide used for the prevention of acute rejection in renal transplant recipients, as an inducer of Hb F production. The analyses were performed in cultured erythroid progenitors from 25 sickle cell disease and 25 β-thal intermedia (β-TI) patients. The use of a quantitative Real-Time-polymerase chain reaction ReTi-PCR technique and high performance liquid chromatography (HPLC) allowed us to determine the increase in γ-globin mRNA expression and Hb F production in human erythroid cells treated with rapamycin. The results of our study demonstrated an increase in vitro of γ-globin mRNA expression in 15 sickle cell disease and 14 β-TI patients and a corresponding Hb F increase. The induction by rapamycin, even if lower or similar in most of samples analyzed, in some cases was higher than HU. These data suggest that rapamycin could be a good candidate to be used in vivo for the treatment of hemoglobinopathies. PMID:26016899

  7. Prospective Evaluation of Procalcitonin, Soluble Triggering Receptor Expressed on Myeloid Cells-1 and C-Reactive Protein in Febrile Patients with Autoimmune Diseases

    Science.gov (United States)

    Lin, Chou-Han; Hsieh, Song-Chou; Keng, Li-Ta; Lee, Ho-Sheng; Chang, Hou-Tai; Liao, Wei-Yu; Ho, Chao-Chi; Yu, Chong-Jen

    2016-01-01

    Background Both procalcitonin (PCT) and soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) have been investigated separately as indicators of infection in patients with autoimmune diseases. Our study simultaneously evaluated both PCT and sTREM-1 along with C-reactive protein (CRP) in febrile patients with autoimmune diseases. Methods Fifty-nine patients were enrolled in the study. The patients were categorized into the infection group (n = 24) or the disease flare group (n = 35). sTREM-1, PCT and CRP concentrations at fever onset were compared between the two groups of patients. Results sTREM-1 and CRP did not differ between the two groups. PCT [median (range), ng/ml] was higher in the infection group than in the disease flare group [0.53 (0.02–12.85) vs. 0.12 (0.02–19.23), p = 0.001]. The area under the receiver-operating characteristic (ROC) for diagnosis of infection was 0.75 for PCT (p = 0.001), 0.63 for CRP (p = 0.09) and 0.52 for sTREM-1 (p = 0.79). Using 0.2 ng/ml as the cutoff value for PCT, sensitivity was 0.75 and specificity was 0.77. Negative predictive values for PCT were 92%, 87% and 82% for a prevalence of infection of 20%, 30%, and 40%, respectively. Neither immunosuppressants nor biomodulators affected the level of the three biomarkers. However, in patients treated with corticosteroids, the levels of sTREM-1 and CRP were significantly decreased compared with the untreated patients. Conclusions Setting PCT at a lower cutoff value could provide useful information on excluding infection in febrile patients with autoimmune diseases. The possible effect of corticosteroids on the level of sTREM-1 as an infection marker deserves further study. PMID:27096761

  8. Stem cells and neurodegenerative diseases

    Institute of Scientific and Technical Information of China (English)

    HOU LingLing; HONG Tao

    2008-01-01

    Neurodegenerative diseases are characterized by the neurodegenerative changes or apoptosis of neurons involved in networks, which are important to specific physiological functions. With the development of old-aging society, the incidence of neurodegenerative diseases is on the increase. However, it is difficult to diagnose for most of neurodegenerative diseases. At present, there are too few effective therapies. Advances in stem cell biology have raised the hope and possibility for the therapy of neurodegenerative diseases. Recently, stem cells have been widely attempted to treat neurodegenerative diseases of animal model. Here we review the progress and prospects of various stem cells,including embryonic stem cells, mesenchymal stem cell and neural stem cells and so on, for the treatments of neurodegenerative diseases, such as Parkinson's disease, Alzheimer's disease, Huntington's disease and Amyotrophic lateral sclerosis/Lou Gehrig's disease.

  9. Stem cells and neurodegenerative diseases

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Neurodegenerative diseases are characterized by the neurodegenerative changes or apoptosis of neurons involved in networks, which are important to specific physiological functions. With the de-velopment of old-aging society, the incidence of neurodegenerative diseases is on the increase. How-ever, it is difficult to diagnose for most of neurodegenerative diseases. At present, there are too few effective therapies. Advances in stem cell biology have raised the hope and possibility for the therapy of neurodegenerative diseases. Recently, stem cells have been widely attempted to treat neurodegen-erative diseases of animal model. Here we review the progress and prospects of various stem cells, including embryonic stem cells, mesenchymal stem cell and neural stem cells and so on, for the treatments of neurodegenerative diseases, such as Parkinson’s disease, Alzheimer’s disease, Hunt-ington’s disease and Amyotrophic lateral sclerosis/Lou Gehrig’s disease.

  10. 18F-FDG PET/CT for detection and localization of residual or recurrent disease in patients with multiple myeloma after stem cell transplantation

    International Nuclear Information System (INIS)

    The aim of the study was to determine the diagnostic performance of 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/CT for the detection and localization of residual or recurrent disease in patients with multiple myeloma (MM) after stem cell transplantation. A total of 197 whole-body 18F-FDG PET/CT scans were performed in 99 patients with MM at different time points in the course of disease after autologous or allogeneic stem cell transplantation. Post-transplant PET/CT scans and clinical remission status as determined by the clinical gold standard (Uniform Response Criteria) were analysed and compared. A total of 576 focal osseous and extramedullary lesions were detected in 79 scans. Additional diffuse bone marrow involvement was detected in 17 patients. 18F-FDG PET/CT had a sensitivity of 54.6%, a specificity of 82.1%, a positive predictive value of 82.3%, a negative predictive value of 54.2% and an overall accuracy of 65.5%. The sensitivity of 18F-FDG PET/CT was shown to depend on the disease category according to the Uniform Response Criteria for myeloma. In patients with MM in the post-transplant setting, 18F-FDG PET/CT may (1) contribute to the detection and localization of disease, (2) provide information about the extent of distinct myeloma manifestations and the total disease burden and (3) add information about the metabolic activity of disease, but (4) has substantially lower sensitivity for this purpose compared to the pretreatment setting. (orig.)

  11. {sup 18}F-FDG PET/CT for detection and localization of residual or recurrent disease in patients with multiple myeloma after stem cell transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Derlin, Thorsten; Wisotzki, Christian; Klutmann, Susanne [University Medical Center Hamburg-Eppendorf, Department of Nuclear Medicine, Hamburg (Germany); Weber, Christoph; Habermann, Christian R.; Herrmann, Jochen [University Medical Center Hamburg-Eppendorf, Department of Diagnostic and Interventional Radiology, Hamburg (Germany); Ayuk, Francis; Wolschke, Christine; Kroeger, Nicolaus [University Medical Center Hamburg-Eppendorf, Clinic for Stem Cell Transplantation, Hamburg (Germany)

    2012-03-15

    The aim of the study was to determine the diagnostic performance of {sup 18}F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/CT for the detection and localization of residual or recurrent disease in patients with multiple myeloma (MM) after stem cell transplantation. A total of 197 whole-body {sup 18}F-FDG PET/CT scans were performed in 99 patients with MM at different time points in the course of disease after autologous or allogeneic stem cell transplantation. Post-transplant PET/CT scans and clinical remission status as determined by the clinical gold standard (Uniform Response Criteria) were analysed and compared. A total of 576 focal osseous and extramedullary lesions were detected in 79 scans. Additional diffuse bone marrow involvement was detected in 17 patients. {sup 18}F-FDG PET/CT had a sensitivity of 54.6%, a specificity of 82.1%, a positive predictive value of 82.3%, a negative predictive value of 54.2% and an overall accuracy of 65.5%. The sensitivity of {sup 18}F-FDG PET/CT was shown to depend on the disease category according to the Uniform Response Criteria for myeloma. In patients with MM in the post-transplant setting, {sup 18}F-FDG PET/CT may (1) contribute to the detection and localization of disease, (2) provide information about the extent of distinct myeloma manifestations and the total disease burden and (3) add information about the metabolic activity of disease, but (4) has substantially lower sensitivity for this purpose compared to the pretreatment setting. (orig.)

  12. Cell Therapies for Liver Diseases

    OpenAIRE

    Yu, Yue; Fisher, James E.; Lillegard, Joseph B.; Rodysill, Brian; Amiot, Bruce; Nyberg, Scott L.

    2012-01-01

    Cell therapies, which include bioartificial liver support and hepatocyte transplantation, have emerged as potential treatments for a variety of liver diseases. Acute liver failure (ALF), acute-on-chronic liver failure, and inherited metabolic liver diseases are examples of liver diseases that have been successfully treated with cell therapies at centers around the world. Cell therapies also have the potential for wide application in other liver diseases, including non-inherited liver diseases...

  13. Merkel Cell Carcinoma Concurrent with Bowen's Disease

    OpenAIRE

    Park, Hyun Chul; Kang, Ho Song; Park, Kyoung Tae; Oh, Young Ha; Yu, Hee Joon; Kim, Joung Soo

    2012-01-01

    Merkel cell carcinoma (MCC) is a rare, aggressive cutaneous malignancy of the elderly and immunocompromised patients. It is occasionally found coexisting with other diseases, such as squamous cell carcinoma, basal cell carcinoma, actinic keratosis, miscellaneous adnexal tumors, and rarely Bowen disease. A 75-year-old woman presented with a 6-month history of an irregularly shaped erythematous patch on the left mandibular angle. Three months later, a 1.5×1.0 cm sized painless and rapidly growi...

  14. Epidural anesthesia for laparoscopic cholecystectomy in a patient with sickle cell anemia, beta thalassemia, and Crohn's disease -A case report-

    OpenAIRE

    Baş, Sema Şanal; Özlü, Onur

    2012-01-01

    A 37-year-old woman diagnosed with sickle cell anemia (SCA), beta (+) thalassemia, Crohn's disease, and liver dysfunction was scheduled for laparoscopic cholecystectomy (LC) due to acute cholecystitis with gall bladder. Regional anesthesia was performed. An epidural catheter was inserted into the 9-10 thoracal epidural space and then 15 ml of 0.5% bupivacaine was injected through the catheter. The level of sensorial analgesia tested with pinprick test reached up to T4. Here we describe the fi...

  15. Rituximab in Preventing Acute Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer

    Science.gov (United States)

    2014-05-28

    Accelerated Phase Chronic Myelogenous Leukemia; Adult Acute Lymphoblastic Leukemia in Remission; Adult Acute Myeloid Leukemia in Remission; Adult Nasal Type Extranodal NK/T-cell Lymphoma; Blastic Phase Chronic Myelogenous Leukemia; Contiguous Stage II Adult Burkitt Lymphoma; Contiguous Stage II Adult Diffuse Large Cell Lymphoma; Contiguous Stage II Adult Diffuse Mixed Cell Lymphoma; Contiguous Stage II Adult Diffuse Small Cleaved Cell Lymphoma; Contiguous Stage II Adult Immunoblastic Large Cell Lymphoma; Contiguous Stage II Adult Lymphoblastic Lymphoma; Contiguous Stage II Grade 1 Follicular Lymphoma; Contiguous Stage II Grade 2 Follicular Lymphoma; Contiguous Stage II Grade 3 Follicular Lymphoma; Contiguous Stage II Mantle Cell Lymphoma; Contiguous Stage II Marginal Zone Lymphoma; Contiguous Stage II Small Lymphocytic Lymphoma; de Novo Myelodysplastic Syndromes; Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue; Graft Versus Host Disease; Nodal Marginal Zone B-cell Lymphoma; Noncontiguous Stage II Adult Burkitt Lymphoma; Noncontiguous Stage II Adult Diffuse Large Cell Lymphoma; Noncontiguous Stage II Adult Diffuse Mixed Cell Lymphoma; Noncontiguous Stage II Adult Diffuse Small Cleaved Cell Lymphoma; Noncontiguous Stage II Adult Immunoblastic Large Cell Lymphoma; Noncontiguous Stage II Adult Lymphoblastic Lymphoma; Noncontiguous Stage II Grade 1 Follicular Lymphoma; Noncontiguous Stage II Grade 2 Follicular Lymphoma; Noncontiguous Stage II Grade 3 Follicular Lymphoma; Noncontiguous Stage II Mantle Cell Lymphoma; Noncontiguous Stage II Marginal Zone Lymphoma; Noncontiguous Stage II Small Lymphocytic Lymphoma; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Adult Burkitt Lymphoma; Recurrent Adult Diffuse Large Cell Lymphoma; Recurrent Adult Diffuse Mixed Cell Lymphoma; Recurrent Adult Diffuse Small Cleaved Cell Lymphoma; Recurrent Adult Grade III

  16. Normal inhibition of DNA synthesis following γ-irradiation of radiosensitive cell lines from patients with Down's syndrome and Alzheimer's disease

    International Nuclear Information System (INIS)

    Inhibition of DNA synthesis was studied in γ-iradiated lymphoblastoid cells from patients with Alzheimer's disease and Down's syndrome. A normal biphasic pattern of inhibition was observed over a dose range of 0-4 krad of γ-rays in all of the cell lines 3 out of 4 Down's and all the Alzheimer's cell lines were shown to be hypersensitive to ionizing radiation based on induced chromosomal aberrations. Increased G2 phase delay, comparable to that occurring in ataxia-telangiectasia cells, was observed for some of the cell lines, after exposure to γ-rays. Contrary to other data in the literature these results demonstrate that radioresistand DNA synthesis is not an intrinsic feature of all disorders characterized by radiosensitivitey. (author).; 25 refs.; 2 figs.; 1 tab

  17. Ingestion of oats and barley in patients with celiac disease mobilizes cross-reactive T cells activated by avenin peptides and immuno-dominant hordein peptides.

    Science.gov (United States)

    Hardy, Melinda Y; Tye-Din, Jason A; Stewart, Jessica A; Schmitz, Frederike; Dudek, Nadine L; Hanchapola, Iresha; Purcell, Anthony W; Anderson, Robert P

    2015-01-01

    Celiac disease (CD) is a common CD4(+) T cell mediated enteropathy driven by gluten in wheat, rye, and barley. Whilst clinical feeding studies generally support the safety of oats ingestion in CD, the avenin protein from oats can stimulate intestinal gluten-reactive T cells isolated from some CD patients in vitro. Our objective was to establish whether ingestion of oats or other grains toxic in CD stimulate an avenin-specific T cell response in vivo. We fed participants a meal of oats (100 g/day over 3 days) to measure the in vivo polyclonal avenin-specific T cell responses to peptides contained within comprehensive avenin peptide libraries in 73 HLA-DQ2.5(+) CD patients. Grain cross-reactivity was investigated using oral challenge with wheat, barley, and rye. Avenin-specific responses were observed in 6/73 HLA-DQ2.5(+) CD patients (8%), against four closely related peptides. Oral barley challenge efficiently induced cross-reactive avenin/hordein-specific T cells in most CD patients, whereas wheat or rye challenge did not. In vitro, immunogenic avenin peptides were susceptible to digestive endopeptidases and showed weak HLA-DQ2.5 binding stability. Our findings indicate that CD patients possess T cells capable of responding to immuno-dominant hordein epitopes and homologous avenin peptides ex vivo, but the frequency and consistency of these T cells in blood is substantially higher after oral challenge with barley compared to oats. The low rates of T cell activation after a substantial oats challenge (100 g/d) suggests that doses of oats commonly consumed are insufficient to cause clinical relapse, and supports the safety of oats demonstrated in long-term feeding studies. PMID:25457306

  18. Feasibility and efficacy of simultaneous integrated boost intensity-modulated radiation therapy in patients with limited-disease small cell lung cancer

    OpenAIRE

    Han, Dan; QIN, Qin; Hao, Shaoyu; Huang, Wei; Wei, Yumei; Zhang, Zicheng; Wang, Zhongtang; LI, BAOSHENG

    2014-01-01

    Purpose To evaluate the feasibility and efficacy of simultaneous integrated boost intensity-modulated radiation therapy (SIB-IMRT) in patients with limited-disease small-cell lung cancer (LD-SCLC). Methods Patients with LD-SCLC were treated with SIB-IMRT within 1 week after completion of 2 cycles of induction chemotherapy. Then 2-4 cycles of adjuvant chemotherapy were administered within 1 week after SIB-IMRT. Irradiation was given accelerated hyper-fractionated with the prescribed dose 57Gy ...

  19. Improvement of myocardial perfusion reserve detected by cardiovascular magnetic resonance after direct endomyocardial implantation of autologous bone marrow cells in patients with severe coronary artery disease

    Directory of Open Access Journals (Sweden)

    Lau Chu-Pak

    2010-01-01

    Full Text Available Abstract Background Recent studies suggested that bone marrow (BM cell implantation in patients with severe chronic coronary artery disease (CAD resulted in modest improvement in symptoms and cardiac function. This study sought to investigate the functional changes that occur within the chronic human ischaemic myocardium after direct endomyocardial BM cells implantation by cardiovascular magnetic resonance (CMR. Methods and Results We compared the interval changes of left ventricular ejection fraction (LVEF, myocardial perfusion reserve and the extent of myocardial scar by using late gadolinium enhancement CMR in 12 patients with severe CAD. CMR was performed at baseline and at 6 months after catheter-based direct endomyocardial autologous BM cell (n = 12 injection to viable ischaemic myocardium as guided by electromechanical mapping. In patients randomized to receive BM cell injection, there was significant decrease in percentage area of peri-infarct regions (-23.6%, P = 0.04 and increase in global LVEF (+9.0%, P = 0.02, the percentage of regional wall thickening (+13.1%, P= 0.04 and MPR (+0.25%, P = 0.03 over the target area at 6-months compared with baseline. Conclusions Direct endomyocardial implantation of autologous BM cells significantly improved global LVEF, regional wall thickening and myocardial perfusion reserve, and reduced percentage area of peri-infarct regions in patients with severe CAD.

  20. Diminished production of interleukin-6 in chronic lymphocytic leukaemia (B-CLL) cells from patients at advanced stages of disease. Tampere CLL Group.

    Science.gov (United States)

    Hulkkonen, J; Vilpo, J; Vilpo, L; Hurme, M

    1998-03-01

    The production of the cytokines interleukin-6 (IL-6) and tumour necrosis factor-alpha (TNF-alpha) in B-CLL cells from 24 patients at different stages of chronic lymphocytic B-cell leukaemia (B-CLL) was investigated in vitro. In the majority of these cases, low spontaneous IL-6 production was measured. Mitogenic stimulation with phorbol 12-myristate 13-acetate (PMA) or PMA plus interleukin-2 (IL-2) resulted in a tremendous increase in TNF-alpha and IL-6 production in cells representing early stage (Binet A) disease. In contrast, very little, if any, production took place in cells from patients with advanced stage (Binet C) B-CLL. The results from stage B patients were intermediate. The most remarkable difference was recorded in PMA-stimulated (1 ng/ml) IL-6 production. In stimulated 72 h cultures, IL-6 concentrations were 1280 +/- 1080 pg/ml for Binet A (n = 11), 757 +/- 597 pg/ml for Binet B (n = 8) and 46.0 +/- 84.0 pg/ml for Binet C (n = 5). The differences in IL-6 production between stage C v B and stage C v A were both statistically significant (P=0.025). Similar effects, but to a lesser extent, were observed in TNF-alpha production. These results suggest that the varying capacity to produce IL-6 and TNF-alpha may play a role in B-CLL progression and in clinical manifestations of the disease. PMID:9504629

  1. Analysis of the T-cell receptor repertoire of human T-cell leukemia virus type 1 (HTLV-1) Tax-specific CD8+ cytotoxic T lymphocytes from patients with HTLV-1-associated disease: evidence for oligoclonal expansion.

    Science.gov (United States)

    Utz, U; Banks, D; Jacobson, S; Biddison, W E

    1996-02-01

    Human T-cell leukemia virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic, progressive neurological disease characterized by marked degeneration of the spinal cord and the presence of antibodies against HTLV-1. Patients with HAM/TSP, but not asymptomatic carriers, show very high precursor frequencies of HTLV-1-specific CD8+ T cells in peripheral blood and cerebrospinal fluid, suggestive of a role of these T cells in the pathogenesis of the disease. In HLA-A2+ HAM/TSP patients, HTLV-1-specific T cells were demonstrated to be directed predominantly against one HTLV-1 epitope, namely, Tax11-19. In the present study, we analyzed HLA-A2-restricted HTLV-1 Tax11-19-specific cytotoxic T cells from three patients with HAM/TSP. An analysis of the T-cell receptor (TCR) repertoire of these cells revealed an absence of restricted variable (V) region usage. Different combinations of TCR V alpha and V beta genes were utilized between, but also within, the individual patients for the recognition of Tax11-19. Sequence analysis of the TCR showed evidence for an oligoclonal expansion of few founder T cells in each patient. Apparent structural motifs were identified for the CDR3 regions of the TCR beta chains. One T-cell clone could be detected within the same patient over a period of 3 years. We suggest that these in vivo clonally expanded T cells might play a role in the pathogenesis of HAM/TSP and provide information on HTLV-1-specific TCR which may elucidate the nature of the T cells that infiltrate the central nervous system in HAM/TSP patients. PMID:8551623

  2. In vitro regulation of immunoglobulin synthesis after marrow transplantation. I. T-cell and B-cell deficiencies in patients with and without chronic graft-versus-host disease

    International Nuclear Information System (INIS)

    Twenty-four patients with aplastic anemia or acute leukemia were treated by marrow grafts from HLA-identical donors after conditioning with high doses of cyclophosphamide and/or today body irradiation. They were studied between 4 and 63 mo (median 14.2) after transplantation. Seventeen patients had chronic graft-versus-host disease (C-GVHD) and 7 were healthy. They were studied for defects in their T- and B-cell function using and indirect hemolytic plaque assay for Ig production after 6 days of culture in the presence of pokeweek mitogen. T or B cells from the patients with or without C-GVHD were cocultured with T or B cells from their HLA-identical marrow donors or unrelated normal controls. Intrinsic B-cell defects, lack of helper T-cell activity, and suppressor T-cell activity were more frequently found in patients with C-GVHD than in healthy patients. Fifteen of the 17 patients with C-GVHD showed on or more defects in their T-and B-cell function compared to only 3 of the 7 patients without C-GVHD. None of the healthy controls, including the marrow donors, showed defects in their T- and B-cell functions. These in vitro findings may be helpful in assessing the process of immune reconstitution and the immunologic aberration found after human marrow transplantation

  3. Binding of immunoglobulin G from patients with autoimmune thyroid diseases to solubilized guinea pig fat cell membranes crosslinked with 125I-TSH

    International Nuclear Information System (INIS)

    Binding of immunoglobulin G (IgG) to Triton-solubilized fat cell membranes crosslinked with 125I-TSH was studied by an indirect immunoprecipitation method. Guinea pig fat cell membranes (FCM) containing TSH receptors with an association constant of 1.92 x 109 M-1 were first reacted with 125I-TSH, then treated with a crosslinker, dissuccinimidyl suberate. The dissociation of 125I-TSH from the crosslinked 125I-TSH-FCM complexes due to the addition of 100 mU/ml unlabeled TSH was 9.0 %, while it was 33 % without the treatment. To the Triton-solubilized FCM crosslinked with 125I-TSH, 50 μg each of IgG from 20 normal controls, 20 patients with Graves' disease and 20 with Hashimoto's disease was added and precipitation was effected by adding antihuman IgG. In patients with Graves' disease, 125I-TSH-FCM complexes immunoprecipitated ranged from 1.10 to 4.18 % with an average of 2.4 ± 0.99 (S. D.) % which was significantly higher than those in normal controls (1.6 ± 0.29 %). The values in the patients with Hashimoto's disease averaged 1.7 ± 0.53 (S. D.) which did not differ significantly from those of controls. The value did not correlate with either TSH-binding inhibiting activities or titers of anti-microsomal antibodies. These data suggest the presence of TSH-receptor antibodies which react with antigens other than TSH-binding sites in the patients with Graves' disease. (author)

  4. Cell Therapies for Liver Diseases

    Science.gov (United States)

    Yu, Yue; Fisher, James E.; Lillegard, Joseph B.; Rodysill, Brian; Amiot, Bruce; Nyberg, Scott L.

    2011-01-01

    Cell therapies, which include bioartificial liver support and hepatocyte transplantation, have emerged as potential treatments for a variety of liver diseases. Acute liver failure (ALF), acute-on-chronic liver failure, and inherited metabolic liver diseases are examples of liver diseases that have been successfully treated with cell therapies at centers around the world. Cell therapies also have the potential for wide application in other liver diseases, including non-inherited liver diseases and liver cancer, and in improving the success of liver transplantation. Here we briefly summarize current concepts of cell therapy for liver diseases. PMID:22140063

  5. 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 ...

  6. Nationwide Survey of Patient Knowledge and Attitudes towards Human Experimentation Using Stem Cells or Bee Venom Acupuncture for Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    2014-10-01

    Full Text Available ObjectiveStem cell treatment is a well-recognized experimental treatment among patients with Parkinson’s disease (PD, for which there are high expectations of a positive impact. Acupuncture with bee venom is one of the most popular complementary and alternative treatments for PD. Patient knowledge and attitudes towards these experimental treatments are unknown. MethodsUsing a 12-item questionnaire, a nationwide survey was conducted of 963 PD patients and 267 caregivers in 44 Korean Movement Disorders Society member hospitals from April 2013 to June 2013. The survey was performed by trained interviewers using conventional methods. ResultsRegarding questions on experimental treatments using stem cells or bee venom acupuncture, 5.1–17.7% of PD patients answered questions on safety, efficacy, and evidence-based practice incorrectly; however, more than half responded that they did not know the correct answer. Although safety and efficacy have not been established, 55.5% of PD patients responded that they were willing to receive stem cell treatment. With regard to participating in experimental treatments, there was a strong correlation between stem cell treatment and bee venom acupuncture (p < 0.0001, odds ratio = 5.226, 95% confidence interval 3.919–6.969. Younger age, higher education, and a longer duration of PD were all associated with a correct understanding of experimental treatments. ConclusionsOur data suggest that relatively few PD patients correctly understand the safety and efficacy of experimental treatments and that PD patients are greatly interested in new treatments. We hope that our data will be used to educate or to plan educational programs for PD patients and caregivers.

  7. Nationwide Survey of Patient Knowledge and Attitudes towards Human Experimentation Using Stem Cells or Bee Venom Acupuncture for Parkinson’s Disease

    Science.gov (United States)

    Chung, Sun Ju; Koh, Seong Beom; Ju, Young-Su; Kim, Jae Woo

    2014-01-01

    Objective Stem cell treatment is a well-recognized experimental treatment among patients with Parkinson’s disease (PD), for which there are high expectations of a positive impact. Acupuncture with bee venom is one of the most popular complementary and alternative treatments for PD. Patient knowledge and attitudes towards these experimental treatments are unknown. Methods Using a 12-item questionnaire, a nationwide survey was conducted of 963 PD patients and 267 caregivers in 44 Korean Movement Disorders Society member hospitals from April 2013 to June 2013. The survey was performed by trained interviewers using conventional methods. Results Regarding questions on experimental treatments using stem cells or bee venom acupuncture, 5.1–17.7% of PD patients answered questions on safety, efficacy, and evidence-based practice incorrectly; however, more than half responded that they did not know the correct answer. Although safety and efficacy have not been established, 55.5% of PD patients responded that they were willing to receive stem cell treatment. With regard to participating in experimental treatments, there was a strong correlation between stem cell treatment and bee venom acupuncture (p < 0.0001, odds ratio = 5.226, 95% confidence interval 3.919–6.969). Younger age, higher education, and a longer duration of PD were all associated with a correct understanding of experimental treatments. Conclusions Our data suggest that relatively few PD patients correctly understand the safety and efficacy of experimental treatments and that PD patients are greatly interested in new treatments. We hope that our data will be used to educate or to plan educational programs for PD patients and caregivers. PMID:25360232

  8. Induced Pluripotent Stem Cells: From Product-Focused Disease Modeling to Process-Focused Disease Discovery

    OpenAIRE

    Campbell, Katherine A; Terzic, Andre; Nelson, Timothy J

    2015-01-01

    Induced pluripotent stem (iPS) cell technology offers an unprecedented opportunity to study patient-specific disease. This biotechnology platform enables recapitulation of individualized disease signatures in a dish through differentiation of patient-derived iPS cells. Beyond disease modeling, the in vitro process of differentiation toward genuine patient tissue offers a blueprint to inform disease etiology and molecular pathogenesis. Here, we highlight recent advances in patient-specific car...

  9. CHANGES IN LEVELS OF SOLUBLE T-CELL ACTIVATION MARKERS, SIL-2R, SCD4 AND SCD8, IN RELATION TO DISEASE EXACERBATIONS IN PATIENTS WITH SYSTEMIC LUPUS-ERYTHEMATOSUS - A PROSPECTIVE-STUDY

    NARCIS (Netherlands)

    SPRONK, P.E.; TERBORG, E.J.; HUITEMA, M.G.; Limburg, Piet; Kallenberg, Cees

    1994-01-01

    Objectives-To assess serial activation of T-cell subsets in relation to auto-antibody production and the occurrence of disease exacerbations in patients with systemic lupus erythematosus (SLE). Methods-To study the possible role of T-cells in the pathophysiology of the disease, 16 consecutive exacer

  10. Papillary renal cell carcinoma with a somatic mutation in MET in a patient with autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Zhang, Wanying; Tan, Adrian Y; Blumenfeld, Jon; Liu, Genyan; Michaeel, Alber; Zhang, Tuo; Robinson, Brian D; Salvatore, Steven P; Kapur, Sandip; Donahue, Stephanie; Bobb, Warren O; Rennert, Hanna

    2016-01-01

    Autosomal-dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2 and is characterized by proliferation of renal tubular epithelium and progressive chronic kidney disease. Derangements in similar cellular signaling pathways occur in ADPKD and renal malignancies, although an association of these disorders has not been established. Herein, we present a case of papillary RCC (pRCC) incidentally discovered in a patient with ADPKD following bilateral native nephrectomy during renal transplantation. Whole exome sequencing of the pRCC found a somatic missense mutation in MET proto-oncogene, p.Val1110Ile, not present in kidney cyst epithelium or non-cystic tissue. RNA sequencing demonstrated increased mRNA expression of MET and pathway-related genes, but no significant copy number variation of MET was detected. Genetic analysis of PKD genes from peripheral blood lymphocytes and renal cyst epithelium identified a constitutional PKD1 germline mutation, p.Trp1582Ser, predicted to be pathogenic. Unique somatic mutations in PKD1 were also detected in 80% of the renal cysts analyzed, but not in the pRCC. These results suggest that, in this patient, the pRCC utilized a signaling pathway involving MET that was distinct from the pathogenesis of ADPKD. This is the first report of PKD1 mutations and a somatic mutation of the MET oncogene in a pRCC in ADPKD. PMID:26718059

  11. Iron Overload in Sickle Cell Disease

    OpenAIRE

    Little, Jane A.; Deepa Manwani; Radha Raghupathy

    2010-01-01

    In sickle cell disease transfusions improve blood flow by reducing the proportion of red cells capable of forming sickle hemoglobin polymer. This limits hemolysis and the endothelial damage that result from high proportions of sickle polymer-containing red cells. Additionally, transfusions are used to increase blood oxygen carrying capacity in sickle cell patients with severe chronic anemia or with severe anemic episodes. Transfusion is well-defined as prophylaxis (stroke) and as therapy (acu...

  12. Cell Therapy in Chagas Disease

    Directory of Open Access Journals (Sweden)

    Antonio C. Campos de Carvalho

    2009-01-01

    Full Text Available Chagas disease which is caused by the parasite Trypanosoma cruzi is an important cause of cardiomyopathy in Latin America. In later stages chagasic cardiomyopathy is associated with congestive heart failure which is often refractory to medical therapy. In these individuals heart transplantation has been attempted. However, this procedure is fraught with many problems attributable to the surgery and the postsurgical administration of immunosuppressive drugs. Studies in mice suggest that the transplantation of bone-marrow-derived cells ameliorates the inflammation and fibrosis in the heart associated with this infection. Cardiac magnetic resonance imaging reveals that bone marrow transplantation ameliorates the infection induced right ventricular enlargement. On the basis of these animal studies the safety of autologous bone marrow transplantation has been assessed in patients with chagasic end-stage heart disease. The initial results are encouraging and more studies need to be performed.

  13. Overexpression of GRß in colonic mucosal cell line partly reflects altered gene expression in colonic mucosa of patients with inflammatory bowel disease.

    Science.gov (United States)

    Nagy, Zsolt; Acs, Bence; Butz, Henriett; Feldman, Karolina; Marta, Alexa; Szabo, Peter M; Baghy, Kornelia; Pazmany, Tamas; Racz, Karoly; Liko, Istvan; Patocs, Attila

    2016-01-01

    The glucocorticoid receptor (GR) plays a crucial role in inflammatory responses. GR has several isoforms, of which the most deeply studied are the GRα and GRß. Recently it has been suggested that in addition to its negative dominant effect on GRα, the GRß may have a GRα-independent transcriptional activity. The GRß isoform was found to be frequently overexpressed in various autoimmune diseases, including inflammatory bowel disease (IBD). In this study, we wished to test whether the gene expression profile found in a GRß overexpressing intestinal cell line (Caco-2GRß) might mimic the gene expression alterations found in patients with IBD. Whole genome microarray analysis was performed in both normal and GRß overexpressing Caco-2 cell lines with and without dexamethasone treatment. IBD-related genes were identified from a meta-analysis of 245 microarrays available in online microarray deposits performed on intestinal mucosa samples from patients with IBD and healthy individuals. The differentially expressed genes were further studied using in silico pathway analysis. Overexpression of GRß altered a large proportion of genes that were not regulated by dexamethasone suggesting that GRß may have a GRα-independent role in the regulation of gene expression. About 10% of genes differentially expressed in colonic mucosa samples from IBD patients compared to normal subjects were also detected in Caco-2 GRß intestinal cell line. Common genes are involved in cell adhesion and cell proliferation. Overexpression of GRß in intestinal cells may affect appropriate mucosal repair and intact barrier function. The proposed novel role of GRß in intestinal epithelium warrants further studies. PMID:26480216

  14. Pulmonary function changes after radiotherapy in non-small-cell lung cancer patients with long-term disease-free survival

    International Nuclear Information System (INIS)

    Purpose: To evaluate the changes in pulmonary function after high-dose radiotherapy (RT) for non-small-cell lung cancer in patients with a long-term disease-free survival. Methods and Materials: Pulmonary function was measured in 34 patients with inoperable non-small-cell lung cancer before RT and at 3 and 18 months of follow-up. Thirteen of these patients had a pulmonary function test (PFT) 36 months after RT. The pulmonary function parameters (forced expiratory volume in 1 s [FEV1], diffusion capacity [Tlcoc], forced vital capacity, and alveolar volume) were expressed as a percentage of normal values. Changes were expressed as relative to the pre-RT value. We evaluated the impact of chronic obstructive pulmonary disease, radiation pneumonitis, mean lung dose, and PFT results before RT on the changes in pulmonary function. Results: At 3, 18, and 36 months, a significant decrease was observed for the Tlcoc (9.5%, 14.6%, and 22.0%, respectively) and the alveolar volume (5.8%, 6.6%, and 15.8%, respectively). The decrease in FEV1 was significant at 18 and 36 months (8.8% and 13.4%, respectively). No recovery of any of the parameters was observed. Chronic obstructive pulmonary disease was an important risk factor for larger PFT decreases. FEV1 and Tlcoc decreases were dependent on the mean lung dose. Conclusion: A significant decrease in pulmonary function was observed 3 months after RT. No recovery in pulmonary function was seen at 18 and 36 months after RT. The decrease in pulmonary function was dependent on the mean lung dose, and patients with chronic obstructive pulmonary disease had larger reductions in the PFTs

  15. Induced Pluripotent Stem Cells: From Product-Focused Disease Modeling to Process-Focused Disease Discovery

    Science.gov (United States)

    Campbell, Katherine A.; Terzic, Andre; Nelson, Timothy J.

    2016-01-01

    Summary Induced pluripotent stem (iPS) cell technology offers an unprecedented opportunity to study patient-specific disease. This biotechnology platform enables recapitulation of individualized disease signatures in a dish through differentiation of patient-derived iPS cells. Beyond disease modeling, the in vitro process of differentiation toward genuine patient tissue offers a blueprint to inform disease etiology and molecular pathogenesis. Here, we highlight recent advances in patient-specific cardiac disease modeling and outline the future promise of iPS cell-based disease discovery applications. PMID:26439809

  16. Stem Cells and Niemann Pick Disease

    OpenAIRE

    Andolina, Marino

    2014-01-01

    Background and Objectives: Niemann Pick A disease causes a progressive accumulation of sphyngomyelin in several organs and the survival of the patients is usually limited to three years. We describe the outcome of a patient suffering from Niemann Pick A disease, who first underwent an haploidentical bone marrow transplantation, and then intrathecal and I.V injections of mesenchymal cells. Methods and Results: While the outcome of bone marrow transplantation was a complete failure, one month a...

  17. Calibrating Sickle Cell Disease.

    Science.gov (United States)

    Yosmanovich, Donna; Rotter, Maria; Aprelev, Alexey; Ferrone, Frank A

    2016-04-24

    Sickle cell disease is fundamentally a kinetic disorder, in which cells containing the mutated hemoglobin (hemoglobin S; HbS) will cause occlusion if they sickle in the microvasculature, but have minimal (or no) consequences if they sickle in the venous return. Physiologically, sickling always occurs when some ligands are present; nonetheless, the kinetics in the presence of ligands are virtually unstudied. Sickling arises from nucleation-controlled polymer formation, triggered when the HbS loses ligands (e.g., oxygen). Thus, understanding how nucleation responds to the presence of oxygen is the key to understanding how sickling proceeds in a physiological context. We have measured the rate of nucleus formation in HbS partially liganded with NO or CO, which we find have equivalent effects in reducing the nucleation rates. We find that hemoglobin must be in the T (tense) quaternary structure for nucleation, but the presence of ligands inhibits nucleus formation even when the correct quaternary structure is present. From these results, we can predict the fraction of cells that will sickle at any given partial ligand saturations. The ability to make such predictions may prove especially useful in designing future therapies, particularly those where the oxygen affinity is perturbed. PMID:26975885

  18. Identification of a High-Risk Group Among Patients With Oral Cavity Squamous Cell Carcinoma and pT1–2N0 Disease

    International Nuclear Information System (INIS)

    Purpose: In the American Joint Committee on Cancer 2010 classification system, pT1–2N0 oral cavity squamous cell carcinoma (OSCC) is considered an early-stage cancer treatable with surgery alone (National Comprehensive Cancer Network 2010 guidelines). Our aim was to evaluate the feasibility of surgery alone for pT1–2N0 OSCC patients. Methods and Materials: Among 1279 previously untreated OSCC patients referred to our hospital between January 1996 and May 2008, we identified 457 consecutive patients with pT1–2N0 disease. All had radical tumor excision with neck dissection. A total of 387 patients showing pathologic margins greater than 4 mm and treated by surgery alone were included in the final analysis. All were followed up for at least 24 months after surgery or until death. The 5-year rates of control, distant metastasis, and survival were the main outcome measures. Results: The 5-year rates in the entire group of pT1–2N0 patients were as follows: local control, 91%; neck control, 92%; distant metastases, 1%; disease-free survival, 85%; disease-specific survival, 93%; and overall survival, 84%. Multivariate analysis identified poor differentiation and pathologic tumor depth of 4 mm or greater as independent risk factors for neck control, disease-free survival, and disease-specific survival. A scoring system using poor differentiation and tumor depth was formulated to define distinct prognostic groups. The presence of both poorly differentiated tumors and a tumor depth of 4 mm or greater resulted in significantly poorer 5-year neck control (p < 0.0001), disease-free (p < 0.0001), disease-specific (p < 0.0001), and overall survival (p = 0.0046) rates. Conclusion: The combination of poor differentiation and pathologic tumor depth of 4 mm or greater identified a subset of pT1–2N0 OSCC patients with poor outcome, who may have clinical benefit from postoperative adjuvant radiotherapy.

  19. Alzheimer's Disease and Stem Cell Therapy

    OpenAIRE

    Choi, Sung S.; Lee, Sang-Rae; Kim, Seung U.; Lee, Hong J.

    2014-01-01

    The loss of neuronal cells in the central nervous system may occur in many neurodegenerative diseases. Alzheimer's disease is a common senile disease in people over 65 years, and it causes impairment characterized by the decline of mental function, including memory loss and cognitive impairment, and affects the quality of life of patients. However, the current therapeutic strategies against AD are only to relieve symptoms, but not to cure it. Because there are only a few therapeutic strategie...

  20. Mast Cell and Autoimmune Diseases

    OpenAIRE

    Yunzhi Xu; Guangjie Chen

    2015-01-01

    Mast cells are important in innate immune system. They have been appreciated as potent contributors to allergic reaction. However, increasing evidence implicates the important role of mast cells in autoimmune disease like rheumatoid arthritis and multiple sclerosis. Here we review the current stage of knowledge about mast cells in autoimmune diseases.

  1. Monitoring nonresponsive patients who have celiac disease.

    Science.gov (United States)

    Krauss, Norbert; Schuppan, Detlef

    2006-04-01

    Because of the wide variations in the clinical presentation of celiac disease and because treatment exists that is effective in most cases, screening of the general population for celiac disease has been considered. There is still no evidence that patients who have symptom-free celiac disease are at increased risk of small intestinal lymphoma or other complications. Prevention of osteoporosis seems to be the strongest indicator for widespread screening today [22]. The major cause of failure to respond to a gluten-free diet is continuing ingestion of gluten, but other underlying diseases must be considered. Many different drugs (eg, anti-tumor necrosis factor [TNF]-alpha) have been used in patients who have RCD [23]. Steroid treatment has been reported to be effective even in patients who have underlying early EATL. Histologic recovery in patients who have celiac disease usually takes several months but can take up to 1 year, even if the patient remains on a strict gluten-free diet. Some patients report celiac-related symptoms for months after a single gluten intake. The definitions for RCD in literature vary. The authors consider the definition give by Daum and colleagues [24] suitable. They defined true RCD as villous atrophy with crypt hyperplasia and increased IELs persisting for more than 12 months in spite of a strict gluten-free diet. If a patient is not responding well to a gluten-free diet, three considerations are necessary: (1) the initial diagnosis of celiac disease must be reassessed;(2) the patient should be sent to a dietician to check for errors in diet or compliance problems, because problems with the gluten-free diet are the most important cause for persisting symptoms; (3) other reasons for persisting symptoms (eg, pancreatic insufficiency, irritable bowel syndrome, bacterial overgrowth, lymphocytic colitis, collagenous colitis, ulcerative jejunitis, protein-losing enteropathy,T-cell lymphoma, fructose intolerance, cavitating lymphadenopathy, and

  2. Radiosensitivity of lymphocytes from patients with Alzheimer's disease

    International Nuclear Information System (INIS)

    The response after γ-irradiation of lymphocytes from 8 patients with Alzheimer's disease (AD), 3 patients with Huntington's disease and 13 normal subjects to stimulation by photohaemagglutinin (PHA) was assayed by incorporation of (3 H) thymidine. The response of non-irradiated cells was found to be significantly lower in AD cells than in age-matched normals but not significantly lower in old normals than in young normals. However, the response of irradiated cells to PHA, expressed as a percentage of that in non-irradiated cells, was found to be similar in AD patients, young and old normals and in HD patients. (author). 17 refs.; 8 figs

  3. Phase I study of temozolomide in combination with thiotepa and carboplatin with autologous hematopoietic cell rescue in patients with malignant brain tumors with minimal residual disease.

    Science.gov (United States)

    Egan, G; Cervone, K A; Philips, P C; Belasco, J B; Finlay, J L; Gardner, S L

    2016-04-01

    Recurrence of malignant brain tumors results in a poor prognosis with limited treatment options. High-dose chemotherapy with autologous hematopoietic cell rescue (AHCR) has been used in patients with recurrent malignant brain tumors and has shown improved outcomes compared with standard chemotherapy. Temozolomide is standard therapy for glioblastoma and has also shown activity in patients with medulloblastoma/primitive neuro-ectodermal tumor (PNET), particularly those with recurrent disease. Temozolomide was administered twice daily on days -10 to -6, followed by thiotepa 300 mg/m(2) per day and carboplatin dosed using the Calvert formula or body surface area on days -5 to -3, with AHCR day 0. Twenty-seven patients aged 3-46 years were enrolled. Diagnoses included high-grade glioma (n=12); medulloblastoma/PNET (n=9); central nervous system (CNS) germ cell tumor (n=4); ependymoma (n=1) and spinal cord PNET (n=1). Temozolomide doses ranged from 100 mg/m(2) per day to 400 mg/m(2) per day. There were no toxic deaths. Prolonged survival was noted in several patients including those with recurrent high-grade glioma, medulloblastoma and CNS germ cell tumor. Increased doses of temozolomide are feasible with AHCR. A phase II study using temozolomide, carboplatin and thiotepa with AHCR for children with recurrent malignant brain tumors is being conducted through the Pediatric Blood and Marrow Transplant Consortium. PMID:26726947

  4. Effect of mobilization of bone marrow stem cells by granulocyte colony stimulating factor on clinical symptoms, left ventricular perfusion and function in patients with severe chronic ischemic heart disease

    DEFF Research Database (Denmark)

    Wang, Yongzhong; Tägil, Kristina; Ripa, Rasmus S.;

    2005-01-01

    OBJECTIVES: A phase I safety and efficacy study with granulocyte colony stimulating factor (G-CSF) mobilization of bone marrow stem cells to induce vasculogenesis in patients with severe ischemic heart disease (IHD) was conducted. DESIGN, PATIENTS AND RESULTS: 29 patients with IHD participated in...

  5. [Prophylaxis against respiratory viral disease in pediatric and adult patients undergoing solid organ and hematopoietic stem cells transplantation].

    Science.gov (United States)

    Álvarez, Ana M; Catalán, Paula; Alba, Andrea; Zubleta, Marcela

    2012-09-01

    Respiratory viruses have been identified as a cause of morbidity and mortality in patients undergoing SOT and HSCT, specially in children. The most frequent are respiratory syncytial virus (RSV), influenza (FLU), parainfluenza (PI) and adenovirus (ADV). These infections are associated with progression to severe lower respiratory tract infections in up to 60% of the cases. It is advised to apply universal protection recommendations for respiratory viruses (A2) and some specific measures for FLU and AD. FLU: Annual anti-influenza vaccination (from 4-6 months post-transplantation in SOT, 6 months in HSCT (A2)); post- exposure prophylaxis in FLU (oseltamivir for 10 days (B2)). In lung transplantion, the prophylaxis should last as long as the risk period (B2). ADV: There is no vaccine nor valid chemoprophylaxis strategy to prevent ADV disease. In some specific HSCT recipients, weekly PCR monitoring is recommended until day+100 (A3). PMID:23282554

  6. How Is Sickle Cell Disease Treated?

    Science.gov (United States)

    ... sickle cell disease, go to the Health Topics Sickle Cell Anemia article. Living With and Managing Sickle Cell Disease ( ... the most severe form of sickle cell disease, sickle cell anemia, Tiffany has lived with the symptoms and complications ...

  7. How Is Sickle Cell Disease Diagnosed?

    Science.gov (United States)

    ... sickle cell disease, go to the Health Topics Sickle Cell Anemia article. Living With and Managing Sickle Cell Disease ( ... the most severe form of sickle cell disease, sickle cell anemia, Tiffany has lived with the symptoms and complications ...

  8. Modelling Neurodegenerative Diseases Using Human Pluripotent Stem Cells

    DEFF Research Database (Denmark)

    Hall, Vanessa Jane

    2016-01-01

    Neurodegenerative diseases are being modelled in-vitro using human patient-specific, induced pluripotent stem cells and transgenic embryonic stem cells to determine more about disease mechanisms, as well as to discover new treatments for patients. Current research in modelling Alzheimer’s disease...... these diseases, but will lead to even more findings in the future as gene and cell culture technology continues to develop....

  9. Pneumococcal Vaccine and Patients with Pulmonary Diseases

    OpenAIRE

    Mirsaeidi, Mehdi; Ebrahimi, Golnaz; Allen, Mary Beth; Aliberti, Stefano

    2014-01-01

    Chronic pulmonary diseases describe chronic diseases that affect the airways and lung parenchyma. Examples of common chronic pulmonary diseases include asthma, bronchiectasis, chronic obstructive lung disease, lung fibrosis, sarcoidosis, pulmonary hypertension and cor pulmonale. Pulmonary infection is considered a significant cause of mortality in patients with chronic pulmonary diseases. Streptococcus pneumoniae is the leading isolated bacteria from adult patients with community-acquired pne...

  10. Peripheral Tc17 and Tc17/Interferon-γ Cells are Increased and Associated with Lung Function in Patients with Chronic Obstructive Pulmonary Disease

    Directory of Open Access Journals (Sweden)

    Wei-Han Xu

    2016-01-01

    Conclusions: Peripheral Tc17 cells are increased and more likely to convert to Tc17/IFN-γ cells in COPD, suggesting that Tc17 cell plasticity may be involved in persistent inflammation of the disease.

  11. Pilot randomized controlled trial to evaluate the effect of aquatic and land physical therapy on musculoskeletal dysfunction of sickle cell disease patients

    Directory of Open Access Journals (Sweden)

    Camila Tatiana Zanoni

    2015-04-01

    Full Text Available Objective: To compare the effect of aquatic and land-based physiotherapy in reducing musculoskeletal hip and lower back pain and increasing overall physical capabilities of sickle cell disease patients. Methods: Informed written consent was obtained from all volunteers who were submitted to evaluations using different functional scales: Lequesne's Algofunctional Questionnaire and Oswestry Disability Index, trunk and hip range of motion, goniometry, trunk and hip muscle strength assessment using load cell, and surface electromyography of the iliocostalis, long dorsal (longissimus, gluteus maximus, gluteus medius and tensor fasciae latae muscles. Ten patients were randomized into two groups: aquatic physiotherapy with a mean age of 42 years (range: 25-67 and conventional physiotherapy with a mean age of 49 years (range: 43-59. Both groups were submitted to a twelve-week program of two sessions weekly. Results: After the intervention, significant improvements were observed regarding the Lequesne index (p-value = 0.0217, Oswestry Disability Index (p-value = 0.0112, range of motion of trunk extension (p-value = 0.0320, trunk flexion muscle strength (p-value = 0.0459, hip extension and abduction muscle strength (p-value = 0.0062 and p-value = 0.0257, respec- tively. Range of motion of trunk and hip flexion, extension, adduction and abduction, trunk extensor muscle strength and all surface electromyography variables showed no significant statistical difference. Conclusion: Physical therapy is efficient to treat musculoskeletal dysfunctions in sickle cell disease patients, irrespective of the technique; however, aquatic therapy showed a trend toward improvement in muscle strength. Further studies with a larger patient sample and longer periods of therapy are necessary to confirm these results.

  12. Morphometric study of cervical anterior horn cells and pyramidal tracts in medulla oblongata and the spinal cord in patients with cerebrovascular diseases.

    Science.gov (United States)

    Qiu, Y; Wada, Y; Otomo, E; Tsukagoshi, H

    1991-04-01

    To clarify the effect of damage to the upper motor neurons on lower motor neurons, quantitative studies were made regarding the cross-sectional area and the number of the individual anterior horn cells in the lateral nuclear cell groups of the 5th segment of the cervical spinal cord (C5), and regarding the cross-sectional areas of the pyramidal tract in the medulla, and in the spinal cord at the C5 and L2 levels. The subjects included 45 patients with cerebrovascular disease (CVD), and 50 age-matched controls without neurological disease. The medullary pyramid (MP) and the ventral funiculus (VF), ipsilateral to the hemispheric lesion, were compared with the MP and VF of the other, unaffected, side. The ventro-lateral funiculus (VLF), anterior horn (AH) and C5 anterior horn cell (AHC), contralateral to the lesion, were also compared with the VLF, AH, and AHC of the other, unaffected, side. The AHC area (mean cross-sectional area of anterior horn cells) and the MP area, VF area, VLF area, AH area (mean cross-sectional areas of MP, VF, VLF and AH) associated with the hemispheric lesional side were significantly decreased, compared with those of the unaffected sides and the controls. However, there was no significant difference in AHC number between the affected and unaffected sides in patients with CVD, nor between the affected side and the controls. In order to examine the relationship between a decrease in AHC area and degree of paralysis, CVD patients were divided into two groups according to degree of muscle strength: the severe and mild paralysis groups.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:2072114

  13. Asthma: Eosinophil Disease, Mast Cell Disease, or Both?

    OpenAIRE

    Bradding Peter

    2008-01-01

    Although there is much circumstantial evidence implicating eosinophils as major orchestrators in the pathophysiology of asthma, recent studies have cast doubt on their importance. Not only does anti-interleukin-5 treatment not alter the course of the disease, but some patients with asthma do not have eosinophils in their airways, whereas patients with eosinophilic bronchitis exhibit a florid tissue eosinophilia but do not have asthma. In contrast, mast cells are found in all airways and loca...

  14. MicroRNA-related polymorphisms in apoptosis pathway genes are predictive of clinical outcome in patients with limited disease small cell lung cancer

    Science.gov (United States)

    Jiang, Wei; Bi, Nan; Zhang, Wen-Jue; Wu, Li-Hong; Liu, Li-Pin; Men, Yu; Wang, Jing-Bo; Liang, Jun; Hui, Zhou-Guang; Zhou, Zong-Mei; Wang, Lu-Hua

    2016-01-01

    We examined the impact of single nucleotide polymorphisms (SNPs) at miRNA binding sites in the 3′-UTRs of genes in the apoptosis pathway on the prognosis of patients with limited disease-small cell lung cancer (LD-SCLC). Twelve tagSNPs in seven genes were genotyped using blood samples from 146 LD-SCLC patients treated with chemoradiotherapy. Cox proportional hazard regression models and recursive partitioning analysis were performed to identify SNPs significantly associated with overall survival. Three SNPs, CASP8: rs1045494 (C > T), PIK3R1: rs3756668 (A > G) and CASP7: rs4353229 (T > C), were associated with longer overall survival in LD-SCLC patients after chemoradiotherapy. The adjusted hazard ratios (95% confidence intervals) were 0.480 (0.258–0.894), 0.405 (0.173–0.947) and 0.446 (0.247–0.802), respectively, and remained significant after multiple comparison correction. Moreover, subset analysis showed these SNPs were still predictive of overall survival in stage III patients. Recursive partitioning analysis enabled patients to be classified into three risk subgroups based on unfavorable genotype combinations of the rs1045494 and rs4353229 SNPs. These findings suggest miRNA-related polymorphisms in the apoptosis pathway may be useful biomarkers for selection of LD-SCLC patients likely to benefit from chemoradiotherapy. PMID:26988918

  15. Bevacizumab Demonstrates Prolonged Disease Stabilization in Patients with Heavily Pretreated Metastatic Renal Cell Carcinoma: A Case Series and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Nicole M. Agostino

    2010-01-01

    Full Text Available There are now a variety of therapies approved for the treatment of metastatic renal cell carcinoma (RCC. These include the immunotherapeutics, alfa-interferon, and interleukin-2, and agents that target the vascular endothelial growth factor receptor (VEGFR via its tyrosine kinase, such as sorafenib, sunitinib, and pazopanib, or the mammalian target of rapamycin (mTOR, such as temsirolimus and everolimus. Bevacizumab, a monoclonal antibody directed against the ligand, VEGF, has shown activity against RCC as a single agent in patients who had failed prior cytokine therapy and as first line therapy in combination with interferon. The activity of bevacizumab in patients who had received and failed prior therapy has not been described. We report our experience in 4 patients with metastatic RCC who had failed prior cytokine, TKI, and mTOR inhibitors who were treated with bevacizumab as single agent therapy. These heavily pretreated patients sustained very prolonged periods of stable disease (median of 12 months with very little toxicity and excellent quality of life. The activity of this agent in patients who had failed prior therapies directed against the VEGFR and mTOR suggests that therapy targeting the ligand, VEGF, is still a viable approach in these patients and deserves further study.

  16. Transport of radiolabelled glycoprotein to cell surface and lysosome-like bodies of absorptive cells in cultured small-intestinal tissue from normal subjects and patients with a lysosomal storage disease

    International Nuclear Information System (INIS)

    The transport of 3H-fucose and 3H-glucosamine-labelled glycoproteins in the absorptive cells of cultured human small-intestinal tissue was investigated with light- and electron-microscopical autoradiography. The findings showed that these glycoproteins were completed in the Golgi apparatus and transported in small vesicular structures to the apical cytoplasm of these cells. Since this material arrived in the cell coat on the microvilli and in the lysosome-like bodies simultaneously, a crinophagic function of these organelles in the regulation of the transport or secretion of cell-coat material was supported. In the absorptive cells of patients with fucosidosis or Hunter's type of lysosomal storage disease, a similar transport of cell-coat material to the lysosome-like bodies and a congenital defect of a lysosomal hydrolase normally involved in the degradation of cell-coat material, can explain the accumulation of this material in the dense bodies. (orig.)

  17. Interstitial lung disease in gefitinib-treated Japanese patients with non-small cell lung cancer – a retrospective analysis: JMTO LC03-02

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    Tada Harue

    2009-08-01

    Full Text Available Abstract Background In Japan, high incidences of interstitial lung disease (ILD and ILD-related deaths have been reported among gefitinib-treated patients with non-small cell lung cancer (NSCLC. We investigated the efficacy of gefitinib, the incidence of ILD and risk factors for ILD in these patients. Findings We obtained patient data retrospectively using questionnaires sent to 22 institutions. We asked for demographic and clinical data on NSCLC patients for whom gefitinib treatment had begun between July 2002 and February 2003. Data from a total of 526 patients were analyzed. The patient characteristics were as follows: 64% male, 69% with adenocarcinoma, 61% with a performance score of 0–1, and 5% with concurrent interstitial pneumonitis. The objective response proportion was 80/439 (18.2%; 95% CI: 14.7–22.0. ILD developed in 17 patients (3.2%; 95% CI 1.9–5.1%, of whom 7 died. According to multivariate analysis, female sex, history of prior chemotherapy, low absolute neutrophil count before gefitinib treatment, and adenocarcinoma histology were associated with response to gefitinib treatment. None of the factors we evaluated were associated with the development of ILD. Conclusion The results of this study are consistent with previously published values for treatment response proportions and incidence of ILD during gefitinib treatment in Japanese patients. Future studies should be aimed at identifying factors indicating that a patient has a high probability of receiving benefit from gefitinib and a low risk of developing ILD.

  18. Immune restoration disease and changes in CD4+ T-cell count in HIV- infected patients during highly active antiretroviral therapy at Zewditu memorial hospital, Addis Ababa, Ethiopia

    Directory of Open Access Journals (Sweden)

    Kassu Afework

    2010-12-01

    Full Text Available Abstract Background Highly active antiretroviral therapy (HAART improves the immune function and decreases morbidity, mortality and opportunistic infections (OIs in HIV-infected patients. However, since the use of HAART, immune restoration disease (IRD has been described in association with many OIs. Our objective was to determine the proportion of IRD, changes in CD4+ T-cell count and possible risk factors of IRD in HIV-infected patients. Methods A retrospective study of all HIV- infected patients starting HAART between September 1, 2005 and August 31, 2006 at Zewditu memorial hospital HIV clinic, Addis Ababa, Ethiopia was conducted. All laboratory and clinical data were extracted from computerized clinic records and patient charts. Results A total of 1166 HIV- infected patients with mean ± SD age of 36 ± 9.3 years were on HAART. IRD was identified in 170 (14.6% patients. OIs diagnosed in the IRD patients were tuberculosis (66.5%, 113/170, toxoplasmosis (12.9%, 22/170, herpes zoster rash (12.9%, 22/170, Pneumocystis jirovecii pneumonia (4.1%, 7/170, and cryptococcosis (3.5%, 6/170. Of the 170 patients with IRD, 124 (72.9% patients developed IRD within the first 3 months of HAART initiation. Low baseline CD4+ T-cell count (odds ratio [OR], 3.16, 95% confidence interval [CI], 2.19-4.58 and baseline extra pulmonary tuberculosis (OR, 7.7, 95% CI, 3.36-17.65 were associated with development of IRD. Twenty nine (17.1% of the IRD patients needed to use systemic anti-inflammatory treatment where as 19(11.2% patients required hospitalization associated to the IRD occurrence. There was a total of 8 (4.7% deaths attributable to IRD. Conclusions The proportion and risk factors of IRD and the pattern of OIs mirrored reports from other countries. Close monitoring of patients during the first three months of HAART initiation is important to minimize clinical deterioration related to IRD.

  19. Noninfectious lung pathology in patients with Crohn's disease.

    Science.gov (United States)

    Casey, Mary B; Tazelaar, Henry D; Myers, Jeffrey L; Hunninghake, Gary W; Kakar, Sanjay; Kalra, Sanjay X; Ashton, Rendell; Colby, Thomas V

    2003-02-01

    Lung involvement in Crohn's disease is not well characterized. We reviewed our experience with 11 lung biopsies (seven wedge and four transbronchial) from patients with Crohn's disease to study this association further. Negative cultures, special stains for organisms Gomori-methenamine-silver [GMS], acid fast), and polymerase chain reaction for (four cases) were required for inclusion. The group included five women and six men with a mean age of 47 years (range 13-84 years). A diagnosis of Crohn's disease preceded the lung disease in nine patients. In two patients the diagnosis of Crohn's disease followed the diagnosis of their pulmonary disease 1 and 15 months later. Radiologically, eight patients had diffuse infiltrates, two had bilateral nodular infiltrates, and one had a mass. Chronic bronchiolitis with nonnecrotizing granulomatous inflammation was present in four patients, one of whom was taking mesalamine. Two patients had an acute bronchiolitis associated with a neutrophil-rich bronchopneumonia with suppuration and vague granulomatous features. One patient on mesalamine had cellular interstitial pneumonia with rare giant cells. Four patients demonstrated organizing pneumonia with focal granulomatous features, two of whom were taking mesalamine, and one of these two responded to infliximab (anti-tumor necrosis factor) monoclonal antibody therapy. Noninfectious pulmonary disease in patients with Crohn's disease has variable histologic appearances, including granulomatous inflammation and airway-centered disease resembling that seen in patients with ulcerative colitis. Drugs may contribute to pulmonary disease in some patients. PMID:12548168

  20. Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC lines from Rett syndrome patients as in vitro disease model.

    Directory of Open Access Journals (Sweden)

    Gene Ananiev

    Full Text Available Rett syndrome (RTT is an autism spectrum developmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2 gene. Excellent RTT mouse models have been created to study the disease mechanisms, leading to many important findings with potential therapeutic implications. These include the identification of many MeCP2 target genes, better understanding of the neurobiological consequences of the loss- or mis-function of MeCP2, and drug testing in RTT mice and clinical trials in human RTT patients. However, because of potential differences in the underlying biology between humans and common research animals, there is a need to establish cell culture-based human models for studying disease mechanisms to validate and expand the knowledge acquired in animal models. Taking advantage of the nonrandom pattern of X chromosome inactivation in female induced pluripotent stem cells (iPSC, we have generated isogenic pairs of wild type and mutant iPSC lines from several female RTT patients with common and rare RTT mutations. R294X (arginine 294 to stop codon is a common mutation carried by 5-6% of RTT patients. iPSCs carrying the R294X mutation has not been studied. We differentiated three R294X iPSC lines and their isogenic wild type control iPSC into neurons with high efficiency and consistency, and observed characteristic RTT pathology in R294X neurons. These isogenic iPSC lines provide unique resources to the RTT research community for studying disease pathology, screening for novel drugs, and testing toxicology.

  1. R-CHOP regimen can significantly decrease the risk of disease relapse and progression in patients with non-germinal center B-cell subtype diffuse large B-cell lymphoma

    Institute of Scientific and Technical Information of China (English)

    Xiao-Hui He; Mei Dong; Sheng-Yu Zhou; Jian-Liang Yang; Peng Liu; Chang-Gong Zhang; Yan Qin; Feng-Yi Feng; Yuan-Kai Shi; Bo Li; Sheng Yang; Ning Lu; Xun Zhang; Shuang-Mei Zou; Ye-Xiong Li; Yong-Wen Song; Shan Zheng

    2012-01-01

    To further explore the role of rituximab when added to the CHOP-like regimen in the treatment of immunohistochemically defined non-germinal center B-cell subtype (non-GCB) diffuse large B-cell lymphoma (DLBCL),159 newly diagnosed DLBCL patients were studied retrospectively based on the immunohistochemical evaluation of CD10,Bcl-6,MUM-1,and Bcl-2.Altogether,110 patients underwent the CHOP-like regimen,and rituximab was added for the other 49 patients.Cox regression analysis showed that compared with the CHOP-like regimen,the rituximab-based regimen (R-CHOP regimen)significantly decreased the risk of disease relapse and progression in CD10-negative patients (P =0.001),Bcl-6-negative patients (P =0.01),and MUM-1-positive patients (P =0.003).The risk of disease relapse in patients with non-GCB subtype (P =0.002) also decreased.In contrast,patients with the opposite immunohistochemical marker expression profile and GCB subtype did not benefit from treatment with the R-CHOP regimen.In addition,non-GCB subtype patients had a significantly higher expression rate of Bcl-2than GCB subtype patients (P =0.042).Although univariate analysis found that both Bcl-2-positive and -negative patients had significantly higher event-free survival rates with the R-CHOP regimen,only Bcl-2positivity (P =0.004) maintained significance in the Cox regression analysis.We conclude that the addition of rituximab can significantly improve the prognosis of patients with non-GCB subtype DLBCL,which is closely related to the expression of CD10,Bcl-6,MUM-1,and Bcl-2.

  2. When Blood Cells Bend: Understanding Sickle Cell Disease

    Science.gov (United States)

    ... please review our exit disclaimer . Subscribe When Blood Cells Bend Understanding Sickle Cell Disease For people who don’t suspect they ... Cells Bend Wise Choices Links Living with Sickle Cell Disease See a sickle cell disease expert regularly. ...

  3. Regulatory T cell frequency in patients with melanoma with different disease stage and course, and modulating effects of high-dose interferon-α 2b treatment

    Directory of Open Access Journals (Sweden)

    Ascierto Paolo A

    2010-08-01

    Full Text Available Abstract Background High-dose interferon-alpha 2b (IFN-α 2b is the only approved systemic therapy in the United States for the adjuvant treatment of melanoma. The study objective was to explore the immunomodulatory mechanism of action for IFN-α 2b by measuring serum regulatory T cell (Treg, serum transforming growth factor-β (TGF-β, interleukin (IL-10, and autoantibody levels in patients with melanoma treated with the induction phase of the high-dose IFN-α 2b regimen. Methods Patients with melanoma received IFN-α 2b administered intravenously (20 MU/m2 each day from day 1 to day 5 for 4 consecutive weeks. Serum Treg levels were measured as whole lymphocytes in CD4+ cells using flow cytometry while TGF-β, IL-10, and autoantibody levels were measured using enzyme-linked immunosorbent assays. Results Twenty-two patients with melanoma received IFN-α 2b treatment and were evaluated for Treg levels. Before treatment, Treg levels were significantly higher in patients with melanoma when compared with data from 20 healthy subjects (P = 0.001; Mann-Whitney test. Although a trend for reduction of Treg levels following IFN-α 2b treatment was observed (average decrease 0.29% per week, statistical significance was not achieved. Subgroup analyses indicated higher baseline Treg levels for stage III versus IV disease (P = 0.082, early recurrence versus no recurrence (P = 0.017, deceased versus surviving patients (P = 0.021, and preoperative neoadjuvant versus postoperative adjuvant treatment groups (not significant. No significant effects were observed on the levels of TGF-β, IL-10, and autoantibodies in patients with melanoma treated with IFN-α 2b. Conclusions Patients with melanoma in this study showed increased basal levels of Treg that may be relevant to their disease and its progression. Treg levels shifted in patients with melanoma treated with IFN-α 2b, although no firm conclusions regarding the role of Tregs as a marker of treatment response

  4. CONTENTS OF THYROID HORMONES, CYTOKINES AND α2-MACROGLOBULIN IN BLOOD SERA AND IN CULTURE SUPERNATES OF BLOOD CELLS FROM THE GRAVES DISEASE PATIENTS

    Directory of Open Access Journals (Sweden)

    V. N. Zorina

    2015-03-01

    Full Text Available We had investigated levels of TTG, T4, TNFα, IL-6, IFNγ, and α2-MG in blood serum and supernates of short-term blood cultures in the patients with verified Graves disease before treatment and after reaching of euthyroid status, as compared with healthy controls. We have revealed that initial blood concentrations of free Т4 in the patients were increased, along with decrease in TSH, higher IL-6, IFNγ levels, as well as concentrations of α2-MG which participates in cytokine transport and synthesis. Thiamazole treatment normalized the hormonal profile and reduced blood levels of IL-6, IFNγ and α2-MG, however, without complete normalization, along with increase of serum TNFα contents. It was shown, that the patients before treatment had decreased in vitro response of cells to the mitogenic stimulation as shown by decreased induction of TNFα and IFNγ production, along with, increased spontaneous IFNγ levels. When reaching euthyroid state after Thiamazole administration, we observed an increased spontaneous IFNγ synthesis, decreased IL-6 production in resting cultures. In mitogen-stimulated cell cultures from the treated patients, IFNγ contents became normal, however, TNFα secretion remained lower than in controls. The α2-MG levels in supernates were stable and significantly lower, than in serum. We may presume that thyrotoxicosis treatment with Thiamazole causes stabilization of the endocrine state, however, being not sufficient for normalized production of cytokines, as well as α2-MG, with its regulatory and transporter functions, thus promoting recurrence of disease and reactivation of autoimmune events. 

  5. CD4CD8αα lymphocytes, a novel human regulatory T cell subset induced by colonic bacteria and deficient in patients with inflammatory bowel disease.

    Science.gov (United States)

    Sarrabayrouse, Guillaume; Bossard, Céline; Chauvin, Joe-Marc; Jarry, Anne; Meurette, Guillaume; Quévrain, Elodie; Bridonneau, Chantal; Preisser, Laurence; Asehnoune, Karim; Labarrière, Nathalie; Altare, Frédéric; Sokol, Harry; Jotereau, Francine

    2014-04-01

    How the microbiota affects health and disease is a crucial question. In mice, gut Clostridium bacteria are potent inducers of colonic interleukin (IL)-10-producing Foxp3 regulatory T cells (Treg), which play key roles in the prevention of colitis and in systemic immunity. In humans, although gut microbiota dysbiosis is associated with immune disorders, the underlying mechanism remains unknown. In contrast with mice, the contribution of Foxp3 Treg in colitis prevention has been questioned, suggesting that other compensatory regulatory cells or mechanisms may exist. Here we addressed the regulatory role of the CD4CD8 T cells whose presence had been reported in the intestinal mucosa and blood. Using colonic lamina propria lymphocytes (LPL) and peripheral blood lymphocytes (PBL) from healthy individuals, and those with colon cancer and irritable bowel disease (IBD), we demonstrated that CD4CD8αα (DP8α) T lymphocytes expressed most of the regulatory markers and functions of Foxp3 Treg and secreted IL-10. Strikingly, DP8α LPL and PBL exhibited a highly skewed repertoire toward the recognition of Faecalibacterium prausnitzii, a major Clostridium species of the human gut microbiota, which is decreased in patients with IBD. Furthermore, the frequencies of DP8α PBL and colonic LPL were lower in patients with IBD than in healthy donors and in the healthy mucosa of patients with colon cancer, respectively. Moreover, PBL and LPL from most patients with active IBD failed to respond to F. prausnitzii in contrast to PBL and LPL from patients in remission and/or healthy donors. These data (i) uncover a Clostridium-specific IL-10-secreting Treg subset present in the human colonic LP and blood, (ii) identify F. prausnitzii as a major inducer of these Treg, (iii) argue that these cells contribute to the control or prevention of colitis, opening new diagnostic and therapeutic strategies for IBD, and (iv) provide new tools to address the systemic impact of both these Treg and the

  6. Protective mechanism against cancer found in progeria patient cells

    Science.gov (United States)

    NCI scientists have studied cells of patients with an extremely rare genetic disease that is characterized by drastic premature aging and discovered a new protective cellular mechanism against cancer. They found that cells from patients with Hutchinson Gi

  7. Thioredoxin is involved in endothelial cell extracellular transglutaminase 2 activation mediated by celiac disease patient IgA.

    Directory of Open Access Journals (Sweden)

    Cristina Antonella Nadalutti

    Full Text Available PURPOSE: To investigate the role of thioredoxin (TRX, a novel regulator of extracellular transglutaminase 2 (TG2, in celiac patients IgA (CD IgA mediated TG2 enzymatic activation. METHODS: TG2 enzymatic activity was evaluated in endothelial cells (HUVECs under different experimental conditions by ELISA and Western blotting. Extracellular TG2 expression was studied by ELISA and immunofluorescence. TRX was analysed by Western blotting and ELISA. Serum immunoglobulins class A from healthy subjects (H IgA were used as controls. Extracellular TG2 enzymatic activity was inhibited by R281. PX12, a TRX inhibitor, was also employed in the present study. RESULTS: We have found that in HUVECs CD IgA is able to induce the activation of extracellular TG2 in a dose-dependent manner. Particularly, we noted that the extracellular modulation of TG2 activity mediated by CD IgA occurred only under reducing conditions, also needed to maintain antibody binding. Furthermore, CD IgA-treated HUVECs were characterized by a slightly augmented TG2 surface expression which was independent from extracellular TG2 activation. We also observed that HUVECs cultured in the presence of CD IgA evinced decreased TRX surface expression, coupled with increased secretion of the protein into the culture medium. Intriguingly, inhibition of TRX after CD IgA treatment was able to overcome most of the CD IgA-mediated effects including the TG2 extracellular transamidase activity. CONCLUSIONS: Altogether our findings suggest that in endothelial cells CD IgA mediate the constitutive activation of extracellular TG2 by a mechanism involving the redox sensor protein TRX.

  8. Diagnostic values for the viral load in peripheral blood mononuclear cells of patients with chronic active Epstein-Barr virus disease.

    Science.gov (United States)

    Ito, Yoshinori; Suzuki, Michio; Kawada, Jun-Ichi; Kimura, Hiroshi

    2016-04-01

    Chronic active Epstein-Barr virus disease (CAEBV) is a distinct EBV-associated lymphoproliferative disease with a poor prognosis. Although the viral load in blood samples has been widely used for diagnosing CAEBV, well-defined viral load thresholds to guide clinicians are currently lacking. The aim of the present study was to determine standardized diagnostic values for EBV load in blood samples of CAEBV patients using the World Health Organization international standard for reporting. Levels of EBV DNA in 103 peripheral blood mononuclear cells (PBMCs) and 95 plasma/serum samples from 107 cases with CAEBV were quantified and expressed in international units. Receiver operating characteristic curves were analyzed to assess the most appropriate cut-off values for levels of EBV DNA to distinguish CAEBV from EBV-associated infectious mononucleosis (IM) and controls with past EBV infection. Levels of EBV DNA in PBMCs were significantly higher in the CAEBV group (median, 10(4.2) IU/μgDNA) compared to the IM (median, 10(2.1) IU/μgDNA) and control groups. An inconsistent qualitative result was seen in 13 of 86 CAEBV patients; in these, EBV-DNA was positive in PBMCs, but negative in plasma. Diagnostic cut-off values for viral load in PBMCs from CAEBV patients, as compared to those of healthy controls and IM patients, were 10(2.0) IU/μgDNA and 10(3.2) IU/μgDNA, respectively. For diagnostic purposes, the viral load of PBMCs was better than of plasma/serum. A diagnostic cut-off EBV load for CAEBV may be useful for the management of CAEBV patients. PMID:26712582

  9. The Injection of Air/Oxygen Bubble into the Anterior Chamber of Rabbits as a Treatment for Hyphema in Patients with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Emre Ayintap

    2014-01-01

    Full Text Available Purpose. To investigate the changes of partial oxygen pressure (PaO2 in aqueous humour after injecting air or oxygen bubble into the anterior chamber in sickle cell hyphema. Methods. Blood samples were taken from the same patient with sickle cell disease. Thirty-two rabbits were divided into 4 groups. In group 1 (n=8, there was no injection. Only blood injection constituted group 2 (n=8, both blood and air bubble injection constituted group 3 (n=8, and both blood and oxygen bubble injection constituted group 4 (n=8. Results. The PaO2 in the aqueous humour after 10 hours from the injections was 78.45 ± 9.9 mmHg (Mean ± SD for group 1, 73.97 ± 8.86 mmHg for group 2, 123.35 ± 13.6 mmHg for group 3, and 306.47 ± 16.5 mmHg for group 4. There was statistically significant difference between group 1 and group 2, when compared with group 3 and group 4. Conclusions. PaO2 in aqueous humour was increased after injecting air or oxygen bubble into the anterior chamber. We offer to leave an air bubble in the anterior chamber of patients with sickle cell hemoglobinopathies and hyphema undergoing an anterior chamber washout.

  10. Erythropoietin production in renal cell carcinoma and renal cysts in autosomal dominant polycystic kidney disease in a chronic dialysis patient with polycythemia: A case report.

    Science.gov (United States)

    Ito, Keiichi; Asano, Takako; Tominaga, Susumu; Yoshii, Hidehiko; Sawazaki, Harutake; Asano, Tomohiko

    2014-11-01

    In patients undergoing chronic hemodialysis (HD), erythropoietin (EPO) production from the kidney generally decreases and renal anemia develops. Patients without anemia, but with high serum EPO (sEPO) levels are rare among HD patients. The current study presents the case of a 67-year-old female HD patient with autosomal dominant polycystic kidney disease (ADPKD) and renal cell carcinoma (RCC), manifesting polycythemia with elevated sEPO levels. A radical nephrectomy was performed, which diminished the polycythemia, but the sEPO levels remained high. To determine the origin of the EPO production, immunohistochemistry was performed to detect EPO in the RCC and the renal cysts of the surgically resected kidney. In addition, the sEPO and EPO levels in a renal cyst were determined by enzyme immunoassay. EPO expression was demonstrated in RCC and cyst epithelial cells using immunohistochemistry, revealing extremely high EPO levels in the cyst fluid. Due to the remission of polycythemia following the nephrectomy, EPO production from the resected kidney appeared to have been the cause of the polycythemia. Positive EPO staining of the renal cysts in the resected polycystic kidney and sustained sEPO elevation following nephrectomy led to the hypothesis of EPO production in the renal cysts of the contralateral polycystic kidney. Although the postoperative EPO level was higher than the normal range, the hematocrit (Hct) level gradually decreased and recombinant human EPO was required again three months following the nephrectomy. Eight months after the nephrectomy, the Hct level was 30.2% with the use of rHuEPO. In conclusion, EPO production from RCC and renal cysts in ADPKD appeared to cause polycythemia in the HD patient. PMID:25295086

  11. Alterações hemostáticas em pacientes com doença falciforme Changes in hemostasis in sickle cell disease patients

    Directory of Open Access Journals (Sweden)

    Jaíne B. Stypulkowski

    2010-02-01

    Full Text Available A doença falciforme (DF é uma doença hereditária que tem uma fisiopatologia complexa e diversificada. Além da falcização dos eritrócitos, responsável pelos fenômenos de vaso-oclusão e hemólise, alterações no sistema de coagulação parecem ter papel importante nas várias manifestações clínicas desta doença. Aproximadamente todos os componentes da hemostasia, incluindo função plaquetária, mecanismos procoagulantes, anticoagulantes e sistema fibrinolítico, estão alterados nesta patologia, mesmo em pacientes clinicamente estáveis. A presença da fosfatidilserina (FS na superfície externa da membrana do eritrócito e o aumento dos anticorpos antifosfolipídeos e do fator tecidual (FT marcam o início da ativação da coagulação nestes pacientes. Também a destruição dos eritrócitos diminui a biodisponibilidade do óxido nítrico (NO e, como consequência, modifica a hemostasia vascular, aumentando a ativação plaquetária e a adesão de moléculas ao endotélio. Assim, o objetivo deste trabalho foi abordar as diferentes alterações hemostáticas que ocorrem nos pacientes com doença falciforme, a fim de melhor compreender o estado "hipercoagulável" como é descrito nesta doença.Sickle cell disease is an inherited disease characterized by a complex and varied physiopathology. Apart from the sickle red blood cells, responsible for vascular occlusion and hemolytic anemia, changes in the coagulation system seem to play an important role in the clinical manifestations of this disorder. Nearly every component of hemostasis, including platelet function and the procoagulant, anticoagulant, and fibrinolytic systems, are altered in sickle Cell Disease even in non-crisis steady-state patients. The presence of phosphatidylserine on the external membrane of the red blood cell and the increase in antiphosphatidylserine antibodies and tissue factor mark the beginning of coagulation activation in these patients. Moreover, red

  12. Graft-Versus-Host Disease Prophylaxis in Treating Patients With Hematologic Malignancies Undergoing Unrelated Donor Peripheral Blood Stem Cell Transplant

    Science.gov (United States)

    2016-08-18

    Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia; Aggressive Non-Hodgkin Lymphoma; Chronic Lymphocytic Leukemia; Diffuse Large B-Cell Lymphoma; Hematopoietic and Lymphoid Cell Neoplasm; Indolent Non-Hodgkin Lymphoma; Mantle Cell Lymphoma; Myelodysplastic Syndrome; Myeloproliferative Neoplasm; Prolymphocytic Leukemia; Recurrent Chronic Lymphocytic Leukemia; Recurrent Plasma Cell Myeloma; Refractory Chronic Lymphocytic Leukemia; Refractory Chronic Myelogenous Leukemia, BCR-ABL1 Positive; Refractory Hodgkin Lymphoma; Small Lymphocytic Lymphoma; T-Cell Chronic Lymphocytic Leukemia; Waldenstrom Macroglobulinemia

  13. ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases.

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    Gandhi Damaj

    Full Text Available Systemic mastocytosis with associated hematologic clonal non-mast cell disease (SM-AHNMD is a rare and heterogeneous subtype of SM and few studies on this specific entity have been reported. Sixty two patients with Systemic mastocytosis with associated hematologic clonal non-mast cell disease (SM-AHNMD were presented. Myeloid AHNMD was the most frequent (82% cases. This subset of patients were older, had more cutaneous lesions, splenomegaly, liver enlargement, ascites; lower bone mineral density and hemoglobin levels and higher tryptase level than lymphoid AHNMD. Defects in KIT, TET2, ASXL1 and CBL were positive in 87%, 27%, 14%, and 11% of cases respectively. The overall survival of patients with SM-AHNMD was 85.2 months. Within the myeloid group, SM-MPN fared better than SM-MDS or SM-AML (p = 0.044,. In univariate analysis, the presence of C-findings, the AHNMD subtypes (SM-MDS/CMML/AML versus SM-MPN/hypereosinophilia (p = 0.044, Neutropenia (p = 0.015, high monocyte level (p = 0.015 and the presence of ASXL1 mutation had detrimental effects on OS (p = 0.007. In multivariate analysis and penalized Cox model, only the presence of ASXL1 mutation remained an independent prognostic factor that negatively affected OS (p = 0.035. SM-AHNMD is heterogeneous with variable prognosis according to the type of the AHNMD. ASXL1 is mutated in a subset of myeloid AHNMD and adversely impact on OS.

  14. Usefulness of resistive index on spectral Doppler ultrasonography in the detection of renal cell carcinoma in patients with end-stage renal disease

    International Nuclear Information System (INIS)

    The aim of this study was to explore the usefulness of the resistive index (RI) on spectral Doppler ultrasonography (US) in the detection of renal cell carcinoma (RCC) in patients with end-stage renal disease (ESRD). Seventeen ESRD patients with kidneys in which renal masses were suspected in routine US were subjected. They underwent computed tomography scans and additional Doppler US for the characterization of the detected lesions. All underwent radical nephrectomy with the suspicion of RCC. Fourteen patients finally were included. RI measurements were conducted in the region of the suspected renal mass and the background renal parenchyma. The intra class correlation coefficient was used to assess the reproducibility of the RI measurement. A paired t-test was used to compare the RI values between the renal mass and the background renal parenchyma (P<0.05). The RI values measured at the RCCs were significantly lower than those measured at the background renal parenchyma (0.41-0.65 vs. 0.75-0.89; P<0.001). The intrareader reproducibility proved to be excellent and good for the renal masses and the parenchyma, respectively (P<0.001). RI on spectral Doppler US is useful in detecting RCC in patients with ESRD. The RI values measured at the RCCs were significantly lower than those measured at the background renal parenchyma.

  15. Usefulness of resistive index on spectral Doppler ultrasonography in the detection of renal cell carcinoma in patients with end-stage renal disease

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sang Youn; Woo, Sung Min; Cho, Jeong Yeon; Kim, Seung Hyup [Dept. of Radiology, Seoul National University Hospital, Seoul (Korea, Republic of); Hwang, Sung Il; Lee, Hak Jong [Dept. of Radiology, Seoul National University Bundang Hospital, Seongnam (Korea, Republic of); Moon, Min Hoan; Sung, Chang Kyu [Dept. of adiology, Seoul National University Boramae Hospital, Seoul (Korea, Republic of)

    2014-04-15

    The aim of this study was to explore the usefulness of the resistive index (RI) on spectral Doppler ultrasonography (US) in the detection of renal cell carcinoma (RCC) in patients with end-stage renal disease (ESRD). Seventeen ESRD patients with kidneys in which renal masses were suspected in routine US were subjected. They underwent computed tomography scans and additional Doppler US for the characterization of the detected lesions. All underwent radical nephrectomy with the suspicion of RCC. Fourteen patients finally were included. RI measurements were conducted in the region of the suspected renal mass and the background renal parenchyma. The intra class correlation coefficient was used to assess the reproducibility of the RI measurement. A paired t-test was used to compare the RI values between the renal mass and the background renal parenchyma (P<0.05). The RI values measured at the RCCs were significantly lower than those measured at the background renal parenchyma (0.41-0.65 vs. 0.75-0.89; P<0.001). The intrareader reproducibility proved to be excellent and good for the renal masses and the parenchyma, respectively (P<0.001). RI on spectral Doppler US is useful in detecting RCC in patients with ESRD. The RI values measured at the RCCs were significantly lower than those measured at the background renal parenchyma.

  16. Cilostazol Enhances Mobilization of Circulating Endothelial Progenitor Cells and Improves Endothelium-Dependent Function in Patients at High Risk of Cardiovascular Disease.

    Science.gov (United States)

    Chao, Ting-Hsing; Chen, I-Chih; Lee, Cheng-Han; Chen, Ju-Yi; Tsai, Wei-Chuan; Li, Yi-Heng; Tseng, Shih-Ya; Tsai, Liang-Miin; Tseng, Wei-Kung

    2016-08-01

    This is the first study to investigate the vasculoangiogenic effects of cilostazol on endothelial progenitor cells (EPCs) and flow-mediated dilatation (FMD) in patients at high risk of cardiovascular disease (CVD). This double-blind, placebo-controlled study included 71 patients (37 received 200 mg/d cilostazol and 34 received placebo for 12 weeks). Use of cilostazol, but not placebo, significantly increased circulating EPC (kinase insert domain receptor(+)CD34(+)) counts (percentage changes: 149.0% [67.9%-497.8%] vs 71.9% [-31.8% to 236.5%], P = .024) and improved triglyceride and high-density lipoprotein cholesterol levels (P = .002 and P = .003, respectively). Plasma levels of vascular endothelial growth factor (VEGF)-A165 and FMD significantly increased (72.5% [32.9%-120.4%] vs -5.8% [-46.0% to 57.6%], P = .001; 232.8% ± 83.1% vs -46.9% ± 21.5%, P = .003, respectively) in cilostazol-treated patients. Changes in the plasma triglyceride levels significantly inversely correlated with the changes in the VEGF-A165 levels and FMD. Cilostazol significantly enhanced the mobilization of EPCs and improved endothelium-dependent function by modifying some metabolic and angiogenic markers in patients at high risk of CVD. PMID:27401788

  17. Celiac disease markers in patients with liver diseases: A single center large scale screening study

    Institute of Scientific and Technical Information of China (English)

    Pavel Drastich; Eva Honsová; Alena Lodererová; Marcela Jare(s)ová; Aneta Pekáriková; Iva Hoffmanová; Ludmila Tu(c)ková

    2012-01-01

    AIM:To study the coincidence of celiac disease,we tested its serological markers in patients with various liver diseases.METHODS:Large-scale screening of serum antibodies against tissue transglutaminase (tTG),and deamidated gliadin using enzyme-linked immunosorbent assay and serum antibodies against endomysium using immunohistochemistry,in patients with various liver diseases (n =962) and patients who underwent liver transplantation (OLTx,n =523) was performed.The expression of tTG in liver tissue samples of patients simultaneously suffering from celiac disease and from various liver diseases using immunohistochemistry was carried out.The final diagnosis of celiac disease was confirmed by histological analysis of small-intestinal biopsy.RESULTS:We found that 29 of 962 patients (3%) with liver diseases and 5 of 523 patients (0.8%) who underwent OLTx were seropositive for IgA and IgG anti-tTG antibodies.However,celiac disease was biopsy-diagnosed in 16 patients:4 with autoimmune hepatitis type Ⅰ,3 with Wilson's disease,3 with celiac hepatitis,2 with primary sclerosing cholangitis,1with primary biliary cirrhosis,1 with Budd-Chiari syndrome,1 with toxic hepatitis,and 1 with non-alcoholic steatohepatitis.Unexpectedly,the highest prevalence of celiac disease was found in patients with Wilson's disease (9.7%),with which it is only rarely associated.On the other hand,no OLTx patients were diagnosed with celiac disease in our study.A pilot study of the expression of tTG in liver tissue using immunohistochemistry documented the overexpression of this molecule in endothelial cells and periportal hepatocytes of patients simultaneously suffering from celiac disease and toxic hepatitis,primary sclerosing cholangitis or autoimmune hepatitis type Ⅰ.CONCLUSION:We suggest that screening for celiac disease may be beneficial not only in patients with associated liver diseases,but also in patients with Wilson's disease.

  18. Sickle cell disease in childhood in Madina

    International Nuclear Information System (INIS)

    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)

  19. Isolation of Mycobacterium avium subspecies paratuberculosis Reactive T-cells from Intestinal Biopsies of Crohn's Disease Patients

    Science.gov (United States)

    Crohn’s disease (CD) is a chronic granulomatous inflammation of the intestine. The etiology is still unknown. One hypothesis is that CD is caused by infection with Mycobacterium avium subspecies paratuberculosis (MAP) in genetically predisposed individuals. MAP causes a similar disease in ruminants,...

  20. Celiac disease: Diagnosis of celiac disease in pediatric patients

    OpenAIRE

    Murray, Joseph A.; Rashtak, Shadi; Rubio-Tapia, Alberto

    2009-01-01

    Children and adolescents with untreated celiac disease display disease-related, histological alterations in the duodenal bulb, according to a new study. In 16 of the 665 patients enrolled in the study, lesions were confined to the duodenal bulb.

  1. Pulmonary disease in patients with hematologic malignancies.

    Science.gov (United States)

    Poletti, Venerino; Trisolini, Rocco; Tura, Sante

    2002-03-01

    Patients with hematologic neoplasms frequently experience pulmonary disease. The possibility of a malignant involvement of the lung parenchyma is a well recognized and not unusual event, secondary spread due to lymphoproliferative disorders being the most common situation. Furthermore, the development and the advances in treatment options such as hematopoietic stem cell transplantation, radiation therapy and/or combined drug regimen use have significantly widened the spectrum of non-neoplastic pulmonary complications that can crop up in these patients. Infections, drug/radiation-induced toxicity, and graft-versus-host disease (GVHD)-related complications account by now for most pulmonary problems in hematologic patients and represent a difficult challenge both in diagnostic and in therapeutic terms for the clinician. The aim of this review is to highlight the clinicopathologic spectrum of lung diseases which can occur in the setting of hematologic malignancies. A particular emphasis is devoted to the diagnostic approach, high-resolution computed tomography (HRCT) assuming a key role since different patterns of CT abnormalities are associated with a different yield of the available diagnostic tools and may help in narrowing the differential diagnosis. PMID:12002382

  2. Cell transplantation for Parkinson's disease

    Institute of Scientific and Technical Information of China (English)

    Jia Liu; Hongyun Huang

    2006-01-01

    OBJECTIVE: The motor symptoms of Parkinson's disease (PD) can be improved by cell transplantation,which has caught general attention from the field of the therapy for PD recently. In this paper, we summarize the cell-based therapy for PD.DATA SOURCES: A search for English literature related to the cellular transplantation of PD from January 1979to July 2006 was conducted in Medline with the key words of "Parkinson's disease, cell transplantation,embryonic stem cells, neural stem cells".STUDY SELECTTON: Data were checked in the first trial, and literatures about PD and cell transplantation were selected. Inclusive criteria: ① PD; ② Cell transplantation. Exclusive criteria: repetitive researches.DATA EXTRACTTON: A total of 100 papers related to cellular transplant and PD were collected and 41literatures were in accordance with the inclusive criteria.DATA SYNTHESIS: PD is a neural degeneration disease that threatens the health of the aged people, and most traditional therapeusis cannot delay its pathological proceeding. Cell transplantation is becoming popular as a new therapeutic tool, and the cells used to transplant mainly included dopamine-secreting cells, fetal ventral mesencephalic cells, embryonic stem cells and neural stem cells up to now. Animal experiment and clinical test demonstrate that cell transplantation can relieve the motor symptoms of Parkinson's disease obviously, but there are some problems need to be solved.CONCLUSTON: Cell transplantation has visible therapeutic efficacy on PD. Following the improvement of technique, and we have enough cause to credit that cell therapy may cure PD in the future.

  3. Studies on erythrocyte membranes of patients with Huntington's disease

    OpenAIRE

    Dubbelman, Thomas Mar; Bruijne, Adriaan W DE; Steveninck, Johnny Van; Bruyn, George W

    1981-01-01

    Several red cell membrane properties and activities of membrane-bound enzymes were investigated in blood samples of patients with Huntington's disease. (Na++K+) ATPase activity and cell deformability appeared to be normal, in contradiction to preceding reports from other laboratories. With other techniques sensitive to relatively small changes in membrane structure, no abnormalities were found in Huntington's disease red cell membranes. These investigations do not support the concept that a g...

  4. The mitochondrial DNA Northeast Asia CZD haplogroup is associated with good disease-free survival among male oral squamous cell carcinoma patients.

    Directory of Open Access Journals (Sweden)

    Chih-Hsiung Lai

    Full Text Available Reprogramming of energy metabolism in cancer cells has been directly/indirectly linked to mitochondria and mitochondrial functional defects and these changes seem to contribute to the development and progression of cancer. Studies have indicated that mitochondrial DNA haplogroups are associated with risk in relation to various diseases including cancer. However, few studies have examined the effect of haplogroups on cancer prognosis outcome. In order to explore the role of haplogroups on oral squamous cell carcinoma (OSCC prognosis, the mitochondrial genomes of 300 male OSCC patients were comprehensively analyzed by direct sequencing. They were then haplotyped and grouped into four major geographic haplogroups, namely the East Asia AN, Southeast Asia RBF, East Asia MGE and Northeast Asia CZD groups. The Kaplan-Meier plot analysis indicated that individuals who were members of the CZD haplogroup showed a significant association with better disease-free survival (DFS than the other three haplogroups and this phenomenon still existed after adjusting for tumor stage, differentiation and age at diagnosis (hazard ratio=0.55; 95% CI=0.36-0.84. In addition, an interaction between membership of the RBF haplogroup and radiotherapy/chemo-radiotherapy in DFS was also identified. The results strongly support the hypothesis that an individual's haplogroup, by defining their genomic background, plays an important role in tumor behavior and mitochondrially-targeted anticancer drugs are promising future therapeutic approaches.

  5. Lithium Carbonate in Treating Patients With Acute Intestinal Graft-Versus-Host-Disease After Donor Stem Cell Transplant

    Science.gov (United States)

    2011-01-04

    Accelerated Phase Chronic Myelogenous Leukemia; Adult Acute Lymphoblastic Leukemia in Remission; Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With T(15;17)(q22;q12); Adult Acute Myeloid Leukemia With T(16;16)(p13;q22); Adult Acute Myeloid Leukemia With T(8;21)(q22;q22); Atypical Chronic Myeloid Leukemia, BCR-ABL Negative; Blastic Phase Chronic Myelogenous Leukemia; Childhood Acute Lymphoblastic Leukemia in Remission; Childhood Acute Myeloid Leukemia in Remission; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Eosinophilic Leukemia; Chronic Myelomonocytic Leukemia; Chronic Neutrophilic Leukemia; Chronic Phase Chronic Myelogenous Leukemia; De Novo Myelodysplastic Syndromes; Disseminated Neuroblastoma; Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue; Gastrointestinal Complications; Juvenile Myelomonocytic Leukemia; Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Nodal Marginal Zone B-cell Lymphoma; Noncontiguous Stage II Adult Burkitt Lymphoma; Noncontiguous Stage II Adult Diffuse Large Cell Lymphoma; Noncontiguous Stage II Adult Diffuse Mixed Cell Lymphoma; Noncontiguous Stage II Adult Diffuse Small Cleaved Cell Lymphoma; Noncontiguous Stage II Adult Immunoblastic Large Cell Lymphoma; Noncontiguous Stage II Adult Lymphoblastic Lymphoma; Noncontiguous Stage II Grade 1 Follicular Lymphoma; Noncontiguous Stage II Grade 2 Follicular Lymphoma; Noncontiguous Stage II Grade 3 Follicular Lymphoma; Noncontiguous Stage II Mantle Cell Lymphoma; Noncontiguous Stage II Marginal Zone Lymphoma; Noncontiguous Stage II Small Lymphocytic Lymphoma; Poor Prognosis Metastatic Gestational Trophoblastic Tumor; Previously Treated Childhood Rhabdomyosarcoma; Primary Myelofibrosis; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent

  6. Pretreatment metabolic tumour volume is predictive of disease-free survival and overall survival in patients with oesophageal squamous cell carcinoma

    International Nuclear Information System (INIS)

    It has been suggested that FDG PET has predictive value for the prognosis of treated oesophageal carcinoma. However, the studies reported in the literature have shown discordant results. The aim of this study was to determine whether pretherapy quantitative metabolic parameters correlate with patient outcomes. Included in the study were 67 patients with a histological diagnosis of oesophageal squamous cell carcinoma. Each patient underwent 18F-FDG PET (4.5 MBq/kg) before chemoradiotherapy. Quantitative analysis was performed using the following parameters: age, weight loss, location, N stage, OMS performance status, MTVp and MTVp' (metabolic tumour volume determined by two different physicians), MTV40% (volume for a threshold of 40 % of SUVmax), MTVa (volume automatically determined with a contrast-based adaptive threshold method), SUVmax, SUVmean and TLG (total lesion glycolysis). MTVp and MTV40% were highly correlated (Pearson's index 0.92). SUVmeanp and SUVmean40% were also correlated (Pearson's index 0.86), as were TLGp and TLG40% (Pearson's index 0.98). Similarly, the parameters obtained with the adaptive threshold method (MTVa, SUVmeana and TLGa) were correlated with those obtained manually (MTVp, SUVmeanp and TLGp). The manual metabolic tumour volume determination (MTVp and MTVp') was reproducible. Multivariate analysis for disease-free survival (DFS) showed that a larger MTVp was associated with a shorter DFS (p = 0.004) and that a higher SUVmax was associated with a longer DFS (p = 0.02). Multivariate analysis for overall survival (OS) showed that a larger MTVp was associated with a shorter OS (p = 0.01) and that a tumour in the distal oesophagus was associated with a longer OS (p = 0.005). The associations among the other parameters were not statistically significant. Metabolic tumour volume is a major prognostic factor for DFS and OS in patients with oesophageal squamous cell carcinoma. Higher SUVmax values were paradoxically associated with longer

  7. A high proportion of bone marrow T cells with regulatory phenotype (CD4+CD25hiFoxP3+) in Ewing sarcoma patients is associated with metastatic disease.

    Science.gov (United States)

    Brinkrolf, Peter; Landmeier, Silke; Altvater, Bianca; Chen, Christiane; Pscherer, Sibylle; Rosemann, Annegret; Ranft, Andreas; Dirksen, Uta; Juergens, Heribert; Rossig, Claudia

    2009-08-15

    Immunosuppressive CD4+CD25(hi)FoxP3+ T cells (T(reg) cells) have been found at increased densities within the tumor microenvironment in many malignancies and interfere with protective antitumor immune responses. Osseous Ewing sarcomas (ESs) are thought to derive from a bone marrow (BM) mesenchymal cell of origin, and microscopic marrow involvement defines a subpopulation of patients at a high risk of relapse. We hypothesized that BM-resident T cells may contribute to a permissive milieu for immune escape of ESs. Using 6-color-flow cytometry, we investigated the pattern of immune cell subset distribution including NK cells, gammadelta T cells, central and effector memory CD8+ and CD4+ T cells as well as T cells with regulatory phenotype (T(reg) cells) in BM obtained at diagnosis from 45 primary or relapsed ES patients treated within standardized protocols. Although patients at relapse had an inverted CD4:CD8 T-cell ratio, neither CD8+ effector/memory T-cell subsets nor T(reg) cells significantly differed from patients at diagnosis. No significant associations of innate and effector/memory T-cell subpopulations with known risk factors were found, including age, gender, tumor site, primary metastases and histological tumor response. By contrast, T(reg) cells were found at significantly higher frequencies in patients with primary metastatic disease compared with localized ESs (5.0 vs. 3.3%, p = 0.01). Thus, increased BM T(reg) cells in patients with metastasized ES may reflect an immune escape mechanism that contributes to the development of metastatic disease. Immunotherapeutic strategies will have to adequately consider the regulatory milieu within areas of Ewing tumor-immune interactions. PMID:19480009

  8. Stem cells and liver disease

    Directory of Open Access Journals (Sweden)

    Javed Akhter

    2011-07-01

    Full Text Available Liver transplantation is the primary treatment for various end-stage hepatic diseases but is hindered by the lack of donor organs, complications associated with rejection and immunosuppression. An increasingly unbridgeable gap exists between the supply and demand of transplantable organs. Hence stem cell research and regenerative medicine have the potential to revolutionize the future of medicine with the ability to regenerate damaged and diseased organs. Stem cells serving as a repair system for the body, can theoretically divide without limit to replenish other cells. These cells could relieve the symptoms of liver disease or the genetic error could potentially be corrected by gene therapy. In cases of acute liver failure in adults, stem cell therapies might be used to support the liver, allowing it time to recover.

  9. Accumulation of neutral lipids in peripheral blood mononuclear cells as a distinctive trait of Alzheimer patients and asymptomatic subjects at risk of disease

    OpenAIRE

    Palmas Manuela; Zaru Cristina; Barberini Luigi; Saba Antonio; Pais Maria; Muçaka Nico; Brundu Annalisa; Angius Fabrizio; Cocco Pier; Abete Claudia; Diaz Giacomo; Mandas Antonella; Pani Alessandra; Putzu Paolo F; Mocali Alessandra

    2009-01-01

    Abstract Background Alzheimer's disease is the most common progressive neurodegenerative disease. In recent years, numerous progresses in the discovery of novel Alzheimer's disease molecular biomarkers in brain as well as in biological fluids have been made. Among them, those involving lipid metabolism are emerging as potential candidates. In particular, an accumulation of neutral lipids was recently found by us in skin fibroblasts from Alzheimer's disease patients. Therefore, with the aim to...

  10. Defective mitochondrial respiration, altered dNTP pools and reduced AP endonuclease 1 activity in peripheral blood mononuclear cells of Alzheimer's disease patients

    DEFF Research Database (Denmark)

    Maynard, Scott; Hejl, Anne-Mette; Dinh, Tran Thuan Son;

    2015-01-01

    AIMS: Accurate biomarkers for early diagnosis of Alzheimer's disease (AD) are badly needed. Recent reports suggest that dysfunctional mitochondria and DNA damage are associated with AD development. In this report, we measured various cellular parameters, related to mitochondrial bioenergetics and...... as possible. We measured glycolysis and mitochondrial respiration fluxes using the Seahorse Bioscience flux analyzer, mitochondrial ROS production using flow cytometry, dNTP levels by way of a DNA polymerization assay, DNA strand breaks using the Fluorometric detection of Alkaline DNA Unwinding (FADU......) assay, and APE1 incision activity (in cell lysates) on a DNA substrate containing an AP site (to estimate DNA repair efficiency). RESULTS: In the PBMCs of AD patients, we found reduced basal mitochondrial oxygen consumption, reduced proton leak, higher dATP level, and lower AP endonuclease 1 activity...

  11. Biochemical assessment of liver in sickle cell disease patients at a tertiary care hospital of north India

    Directory of Open Access Journals (Sweden)

    Pankaj Tripathi

    2016-01-01

    Conclusions: Steady state SCD patients had elevation of Transaminases and remaining liver function parameters compared to age matched controls. It is advisable that liver function tests be interpreted with caution in these patients. [Int J Res Med Sci 2016; 4(1.000: 57-60

  12. Cerebro vascular accident in sickle cell disease

    International Nuclear Information System (INIS)

    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)

  13. Acute liver function decompensation in a patient with sickle cell disease managed with exchange transfusion and endoscopic retrograde cholangiography

    OpenAIRE

    Papafragkakis, Haris; Mel A. Ona; Changela, Kinesh; Sadanandan, Swayamprabha; Jelin, Abraham; Anand, Sury; Duddempudi, Sushil

    2014-01-01

    Sickle cell intrahepatic cholestasis is a relatively uncommon complication of homozygous sickle cell anemia, which may lead to acute hepatic failure and death. Treatment is mainly supportive, but exchange transfusion is used as salvage therapy in life threatening situations. We describe a case of a 16-year-old female with homozygous sickle cell anemia who presented to the emergency room with fatigue, malaise, dark urine, lower back pain, scleral icterus and jaundice. She was found to have mar...

  14. Inflammatory Stress on Autophagy in Peripheral Blood Mononuclear Cells from Patients with Alzheimer's Disease during 24 Months of Follow-Up.

    Directory of Open Access Journals (Sweden)

    Arnaud François

    Full Text Available Recent findings indicate that microglia in Alzheimer's disease (AD is senescent whereas peripheral blood mononuclear cells (PBMCs could infiltrate the brain to phagocyte amyloid deposits. However, the molecular mechanisms involved in the amyloid peptide clearance remain unknown. Autophagy is a physiological degradation of proteins and organelles and can be controlled by pro-inflammatory cytokines. The purpose of this study was to evaluate the impact of inflammation on autophagy in PBMCs from AD patients at baseline, 12 and 24 months of follow-up. Furthermore, PBMCs from healthy patients were also included and treated with 20 μM amyloid peptide 1-42 to mimic AD environment. For each patient, PBMCs were stimulated with the mitogenic factor, phytohaemagglutin (PHA, and treated with either 1 μM C16 as an anti-inflammatory drug or its vehicle. Autophagic markers (Beclin-1, p62/sequestosome 1 and microtubule-associated protein-light chain 3: LC3 were quantified by western blot and cytokines (Interleukin (IL-1β, Tumor necrosis Factor (TNF-α and IL-6 by Luminex X-MAP® technology. Beclin-1 and TNF-α levels were inversely correlated in AD PBMCs at 12 months post-inclusion. In addition, Beclin-1 and p62 increased in the low inflammatory environment induced by C16. Only LC3-I levels were inversely correlated with cognitive decline at baseline. For the first time, this study describes longitudinal changes in autophagic markers in PBMCs of AD patients under an inflammatory environment. Inflammation would induce autophagy in the PBMCs of AD patients while an anti-inflammatory environment could inhibit their autophagic response. However, this positive response could be altered in a highly aggressive environment.

  15. Treatment of severe neutropenia with high-dose pyridoxine in a patient with chronic graft versus host disease and squamous cell carcinoma: a case report

    Directory of Open Access Journals (Sweden)

    Rauf Mariam

    2011-08-01

    Full Text Available Abstract Introduction The differential diagnosis of neutropenia includes medications, infections, autoimmune diseases, and deficiencies of Vitamin B12 and folate. The association of Vitamin B6 deficiency with severe neutropenia is a rare finding. Case presentation A 51-year-old Caucasian woman presented with fever and profound neutropenia (48 neutrophils/uL. Her clinical history included non-Hodgkin lymphoma, in remission following treatment with allogeneic bone marrow transplantation, quiescent chronic graft-versus-host disease, and squamous cell carcinoma of the skin metastatic to cervical lymph nodes. Medications included atenolol, topical clobetasol, Ditropan (oxybutynin, prophylactic voriconazole, prophylactic valganciclovir, Soriatane (acitretin, and Carac (fluorouracil cream. The bone marrow was hypocellular without metastatic cancer or myelodysplasia. Neutropenia did not respond to stopping medications that have been associated with neutropenia (valganciclovir, voriconazole and Soriatane or treatment with antibiotics or granulocyte colony stimulating factor. Blood tests revealed absence of antineutrophil antibodies, normal folate and B12 levels, moderate zinc deficiency and severe Vitamin B6 deficiency. Replacement therapy with oral Vitamin B6 restored blood vitamin levels to the normal range and corrected the neutropenia. Her cervical adenopathy regressed clinically and became negative on scintography following Vitamin B6 therapy and normalization of the blood neutrophil count. Conclusion Severe pyridoxine deficiency can lead to neutropenia. Screening for Vitamin B6 deficiency, along with folate and Vitamin B12 levels, is recommended in patients with refractory neutropenia, especially those with possible malabsorption syndromes, or a history of chronic-graft-versus host disease. Severe neutropenia may facilitate progression of squamous cell carcinoma.

  16. Simultaneous measurement of TSH-binding inhibitor immunoglobulin and thyroid stimulating autoantibody activities using cultured FRTL-5 cells in patients with untreated Graves' disease

    International Nuclear Information System (INIS)

    A new and practical assay was developed using cultured FRTL-5 cells for simultaneous assessment of TS-ab and TSH-binding inhibitor immunoglobulin, allowing direct comparison of these two activities under the same conditions. Subsequent to the TS-ab assay in which extracellular cAMP concentration in Hanks' medium without NaCl was determined, [125I]bTSH in this medium was added to observe the ability of serum Ig to inhibit the binding of [125I]bTSH to FRTL-5 cells. We found a much higher specific binding of [125I]bTSH to FRTL-5 cells and a much greater inhigition of [125I]bTSH binding to the cells exposed to Greves' Ig in hypotonic NaCl-free than in NaCl containing Hanks' medium, indicating that the binding of both TSH and Graves' Ig to the TSH receptor was salt-sensitive. The inhibitory activity of [125I]bTSH binding to the cells was 0.2±4.6% (mean ±SD) in 45 normals. Inter-assay coefficients of variation in two positive controls with the mean values of 18.0 and 65.8% were 15.8 and 16.5%, respectively. Among 46 patients with untreated hyperthyroidism owing to Graves' disease, 45 (97.8%) were positive for TS-ab; 35 (76.1%) and 40 (87.0%) were positive for TSH-binding inhibitor in Ig assays using FRTL-5 cells and solubilized porcine thyroid membranes, respectively. TS-ab activities correlated less closely with TSH-binding inhibitory activities determined using FRTL-5 cells (r=0.576, p<0.001) than with those determined using porcine thyroid membranes (r=0.745, p<0.001). The correlation between TSH-binding inhibitory activities determined by the two methods, although statistically significant (r=0.537, p<0.001) was rather rough. Some patients clearly demonstrated discrepant results, suggesting the existence of heterogeneous populations of TSH receptor antibodies. (author)

  17. Facts about Sickle Cell Disease

    Science.gov (United States)

    ... Us Information For... Media Policy Makers Facts About Sickle Cell Disease Language: English Español (Spanish) Recommend on Facebook ... severity of these rarer types of SCD varies. Sickle Cell Trait (SCT) HbAS People who have SCT inherit ...

  18. Pulse oximetry in sickle cell disease.

    Science.gov (United States)

    Weston Smith, S G; Glass, U H; Acharya, J; Pearson, T C

    1989-01-01

    The place of pulse oximetry in monitoring arterial oxygen saturation in sickle cell disease has been evaluated. In four admissions of patients with sickle cell anaemia with varying degrees of arterial haemoglobin oxygen desaturation, pulse oximetry was compared with a simultaneous assessment of oxygen saturation by arterial blood gas measurement and oxygen dissociation curve (ODC) analysis. Close agreement was found between the oxygen saturation measured by pulse oximetry and that calculated from the measured arterial partial pressure of oxygen (PaO2) with reference to the patient's own ODC. Calculation of oxygen saturation by the blood gas analyser assuming a normal ODC was erroneous. Pulse oximetry is an accurate and effective non-invasive method for monitoring the arterial oxygen saturation in sickle cell disease. PMID:2591150

  19. Modelling Neurodegenerative Diseases Using Human Pluripotent Stem Cells

    DEFF Research Database (Denmark)

    Hall, Vanessa J.

    2016-01-01

    Neurodegenerative diseases are being modelled in-vitro using human patient-specific, induced pluripotent stem cells and transgenic embryonic stem cells to determine more about disease mechanisms, as well as to discover new treatments for patients. Current research in modelling Alzheimer’s disease......, frontotemporal dementia and Parkinson’s disease using pluripotent stem cells is described, along with the advent of gene-editing, which has been the complimentary tool for the field. Current methods used to model these diseases are predominantly dependent on 2D cell culture methods. Outcomes reveal that only...... includes studying more complex 3D cell cultures, as well as accelerating aging of the neurons, may help to yield stronger phenotypes in the cultured cells. Thus, the use and application of pluripotent stem cells for modelling disease have already shown to be a powerful approach for discovering more about...

  20. Pain management in sickle cell disease.

    Science.gov (United States)

    Jacob, E

    2001-12-01

    The unpredictable, recurrent, intense, and frequently persistent nature of pain associated with sickle cell disease poses a difficult challenge in terms of management. A wide variability exists in the way painful episodes are managed. Variations in practice reflect different views about the suitability of opioids, the efficacy of parenteral administration, and the risk of dependence on opioids. Consequently, the acute and chronic pain associated with sickle cell disease often is undertreated or inappropriately managed. Although medical staff fear that patients might abuse pain medication and become psychologically dependent, patients are more concerned about the side effects associated with analgesics. Some patients may persuade staff to give them more analgesics, engage in clock-watching, and request specific medications or dosages; these patients often are perceived as manipulative or demanding. However, these patients are knowledgeable about their medications and doses that have worked in the past. Requests for specific medications and dosages should not be interpreted as indications of drug-seeking behavior, but clinicians should communicate with these patients, make accurate assessments, and provide adequate doses of opioid analgesics. The American Pain Society recognized that the undertreatment of pain and inappropriate management of pain in sickle cell disease seem to be common. A Clinical Practice Guideline was developed to provide evidence-based recommendations that could potentially improve pain management. The purpose of this report is to describe the pharmacologic strategies used to manage pain associated with sickle cell disease, examine issues and challenges related to pain management as well as concerns and fears related to addiction, and explain the administration of opioids as recommended by the American Pain Society. PMID:11748547

  1. Asthma: Eosinophil Disease, Mast Cell Disease, or Both?

    Directory of Open Access Journals (Sweden)

    Bradding Peter

    2008-06-01

    Full Text Available Although there is much circumstantial evidence implicating eosinophils as major orchestrators in the pathophysiology of asthma, recent studies have cast doubt on their importance. Not only does anti-interleukin-5 treatment not alter the course of the disease, but some patients with asthma do not have eosinophils in their airways, whereas patients with eosinophilic bronchitis exhibit a florid tissue eosinophilia but do not have asthma. In contrast, mast cells are found in all airways and localize specifically to key tissue structures such as the submucosal glands and airway smooth muscle within asthmatic bronchi, irrespective of disease severity or phenotype. Here they are activated and interact exclusively with these structural cells via adhesive pathways and through the release of soluble mediators acting across the distance of only a few microns. The location of mast cells within the airway smooth muscle bundles seems particularly important for the development and propagation of asthma, perhaps occurring in response to, and then serving to aggravate, an underlying abnormality in asthmatic airway smooth muscle function. Targeting this mast cell-airway smooth muscle interaction in asthma offers exciting prospects for the treatment of this common disease.

  2. Bone Marrow Stem Cell Treatment for Ischemic Heart Disease in Patients with No Option of Revascularization: A Systematic Review and Meta-Analysis.

    Directory of Open Access Journals (Sweden)

    Sheila A Fisher

    Full Text Available To evaluate bone marrow stem cell treatment (BMSC in patients with ischemic heart disease (IHD and no option of revascularization.Autologous BMSC therapy has emerged as a novel approach to treat patients with acute myocardial infarction or chronic ischemia and heart failure following percutaneous or surgical revascularization, respectively. However, the effect of the treatment has not been systematic evaluated in patients who are not eligible for revascularization.MEDLINE (1950-2012, EMBASE (1980-2012, CENTRAL (The Cochrane Library 2012, Issue 8 and ongoing trial databases were searched for relevant randomized controlled trials. Trials where participants were diagnosed with IHD, with no option for revascularization and who received any dose of stem cells by any delivery route were selected for inclusion. Study and participant characteristics, details of the intervention and comparator, and outcomes measured were recorded by two reviewers independently. Primary outcome measures were defined as mortality and measures of angina; secondary outcomes were heart failure, quality of life measures, exercise/performance and left ventricular ejection fraction (LVEF.Nine trials were eligible for inclusion. BMSC treatment significantly reduced the risk of mortality (Relative Risk 0.33; 95% Confidence Interval 0.17 to 0.65; P = 0.001. Patients who received BMSC showed a significantly greater improvement in CCS angina class (Mean Difference -0.55; 95% Confidence Interval -1.00 to -0.10; P = 0.02 and significantly fewer angina episodes per week at the end of the trial (Mean Difference -5.21; 95% Confidence Interval -7.35 to -3.07; P<0.00001 than those who received no BMSC. In addition, the treatment significantly improved quality of life, exercise/performance and LVEF in these patients.BMSC treatment has significant clinical benefit as stand-alone treatment in patients with IHD and no other treatment option. These results require confirmation in large

  3. CD4 T Cells From Intestinal Biopsies of Crohn's Disease Patients React to Mycobacterium avium subspecies paratuberculosis

    Science.gov (United States)

    The role of Mycobacterium avium subspecies paratuberculosis (MAP) in Crohn’s disease (CD) remains controversial. One issue that has been raised is the lack of data showing a cellular immune response to MAP. Earlier studies have mostly focused on responses in peripheral blood which have several limit...

  4. The determination of lymphocyte transformation in patients of various diseases

    International Nuclear Information System (INIS)

    The synthesis of DNA, RNA and protein during the transformation of human lymphocytes induced by mitogen PHA and LPS was investigated by quantitation of 3H-TdR, 14C-UR and 14C-valine incorporation method. 1666 tests were carried out in patients with various diseases and 424 tests in normal subjects. It was found that immunocompetence was closely related with the progress and prognosis in patients with leukemia. Impairment of the cell-mediated immunity in patients with squamous cell carcinoma and with encephlitis was observed. There was no difference in immunity between patients with adenocarcinoma and the normal subjects. The ionizing irradiation mainly exerts its effect on cell-mediated immunity. The cell-mediated immunity was found to be impaired while the humoral immune regulation was enhanced in tuberculosis and leprosy, indicating that these diseases were caused by impairment of cell-mediated immunity. Both humoral and cell-mediated immunity return to normal levels at convalescence. The uptake of 14C-UR by lymphocytes in patients with hepatitis increased significantly. Lymphocytes reactivity was elevated in patients with vernal conjunctivities and normal in patients with uveitis. Low reactivity was observed in patients with keratitis. The immunity in various diseases was discussed

  5. Reprogramming therapeutics: iPS cell prospects for neurodegenerative disease

    OpenAIRE

    Abeliovich, Asa; Doege, Claudia A.

    2009-01-01

    The recent description of somatic cell reprogramming to an embryonic stem (ES) cell-like phenotype, termed induced pluripotent stem (iPS) cell technology, presents an exciting potential venue towards cell-based therapeutics and disease models for neurodegenerative disorders Two recent studies from Dimos et al. (Dimos et al., 2008) and Ebert et al. (Ebert et al., 2008) describe the initial characterization of neurodegenerative disease patient-derived iPS cell cultures as proof-of-concept for t...

  6. Improving Cultural Competency and Disease Awareness among Oncology Nurses Caring for Adult T-Cell Leukemia and Lymphoma Patients

    Science.gov (United States)

    Cortese-Peske, Marisa A.

    2013-01-01

    Foreign-born residents face significant challenges accessing and receiving quality healthcare in the U.S. These obstacles include a lack of information on how to access care, fear, as well as communication and cultural barriers (Portes, Fernandez-Kelly & Light, 2012). Increasing healthcare providers' knowledge regarding a patient's…

  7. Intratumoral Metabolic Heterogeneity for Prediction of Disease Progression After Concurrent Chemoradiotherapy in Patients with Inoperable Stage III Non-Small-Cell Lung Cancer

    International Nuclear Information System (INIS)

    We evaluated the value of variable 18F-FDG PET/CT parameters for the prediction of disease progression after concurrent chemoradiotherapy (CCRT) in patients with inoperable stage III non-small-cell lung cancer (NSCLC). One hundred sixteen pretreatment FDG PET/CT scans of inoperable stage III NSCLC were retrospectively reviewed (stage IIIA: 51; stage IIIB: 65). The volume of interest was automatically drawn for each primary lung tumor, and PET parameters were assessed as follows: maximum standardized uptake value (SUVmax), metabolic tumor volume (MTV) using the boundaries presenting SUV intensity exceeding 3.0, and the area under the curve of the cumulative SUV-volume histograms (AUC-CSH), which is known to reflect the tumor heterogeneity. Progression-free survival (PFS), locoregional recurrence-free survival (LRFS), and distant metastasis-free survival (DMFS) were compared with each PET and clinical parameters by univariate and multivariate survival analysis.In the ROC analysis, the optimal cutoff values of SUVmax, MTV (cm3), and AUC-CSH for prediction of PFS were determined as 21.5, 27.7, and 4,800, respectively. In univariate analysis, PFS was statistically significantly reduced in those with AUC-CSHmax were statistically significant independent prognostic factors (HR 3.35, 95 % CI 1.79.6.28, p 18F-FDG PET/CT can predict disease progression after CCRT in inoperable stage III NSCLC

  8. Feasibility and efficacy of simultaneous integrated boost intensity-modulated radiation therapy in patients with limited-disease small cell lung cancer

    International Nuclear Information System (INIS)

    To evaluate the feasibility and efficacy of simultaneous integrated boost intensity-modulated radiation therapy (SIB-IMRT) in patients with limited-disease small-cell lung cancer (LD-SCLC). Patients with LD-SCLC were treated with SIB-IMRT within 1 week after completion of 2 cycles of induction chemotherapy. Then 2-4 cycles of adjuvant chemotherapy were administered within 1 week after SIB-IMRT. Irradiation was given accelerated hyper-fractionated with the prescribed dose 57Gy at 1.9Gy twice daily to the gross tumor volume (GTV) , 51Gy at 1.7Gy twice daily to the clinical tumor volume (CTV) and 45Gy at 1.5Gy twice daily to the planning target volume (PTV). The chemotherapy regimen consisted of platinum plus etoposide. Prophylactic cranial radiation (25Gy in 10 fractions) was administered to patients who got complete response (CR) or near complete response (nCR). The primary endpoint of this study was the frequency of grade 3 or higher acute non-hematologic treatment-related toxicities. Secondary end points included objective response, overall survival (OS), progression-free survival (PFS), locoregional recurrence-free survival (LRFS). A cohort of 35 patients were enrolled in the study, the biological equivalent dose (BED) of the GTV in the SIB-IMRT was 59.16Gy. Grade 1, 2, and 3 esophagitis were observed in 11 (31%), 12 (34%), and 6 (17%) patients, respectively; Grade 1 and 2 pneumonitis were observed in 8 (23%) and 4 (11%) patients, respectively. The median OS and PFS of the whole group were 37.7 months and 29.3 months, respectively. The 1- and 2-year OS was 94.1% and 68.5%, respectively. The 1- and 2-year PFS was 76.8% and 40.7%, respectively. The 1- and 2-year LRFS was 87.7% and 73.8%, respectively. SIB-IMRT was feasible and well-tolerated in patients with LD-SCLC, and worth further evaluating in a large prospective clinical trial

  9. 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. The...

  10. Mesenchymal stem cells and inflammatory lung diseases.

    Science.gov (United States)

    Iyer, S S; Co, C; Rojas, M

    2009-03-01

    Mesenchymal stem cells (MSCs) are emerging as a therapeutic modality in various inflammatory disease states. A number of ongoing randomized Phase I/II clinical trials are evaluating the effects of allogeneic MSC infusion in patients with multiple sclerosis, graft-versus-host disease, Crohn's disease, and severe chronic myocardial ischemia. MSCs are also being considered as a potential therapy in patients with inflammatory lung diseases. Several studies, including our own, have demonstrated compelling benefits from the administration of MSCs in animal models of lung injury. These studies are leading to growing interest in the therapeutic use of MSCs in inflammatory lung diseases. In this Review, we describe how the immunoregulatory effects of MSCs can confer substantial protection in the setting of lung diseases such as acute lung injury, chronic obstructive pulmonary disease, asthma, and pulmonary hypertension. We also address potential pitfalls related to the therapeutic use of MSCs in fibrotic lung diseases such as idiopathic pulmonary fibrosis. In addition, we identify emerging areas for MSC- based therapies in modulating oxidative stress and in attenuating inflammation in alcohol-related acute lung injury. PMID:19352305

  11. Comparison of Two Different Methods of Stem Cell Therapy of Critical Limb Ischemia in Patients with Diabetic Foot Disease

    Czech Academy of Sciences Publication Activity Database

    Dubský, M.; Jirkovská, A.; Bém, R.; Pagacová, L.; Fejfarová, V.; Varga, M.; Skibová, J.; Langkramer, S.; Lesný, Petr; Syková, Eva

    2010-01-01

    Roč. 59, Suppl.1 (2010), A323-A324. ISSN 0012-1797. [Annual Meeting of the American Diabetes Association /70./. 25.07.2010-29.07.2010, Orlando] Institutional research plan: CEZ:AV0Z50390703 Keywords : stem cell * endocrinology Subject RIV: FH - Neurology

  12. Depressive symptoms and white blood cell count in coronary heart disease patients : Prospective findings from the Heart and Soul Study

    NARCIS (Netherlands)

    Duivis, Hester E.; Kupper, Nina; Penninx, Brenda W.; Na, Beeya; de Jonge, Peter; Whooley, Mary A.

    2013-01-01

    Background: Depression has been associated with elevated white blood cell (WBC) count - indicative of systemic inflammation - in cross-sectional studies, but no longitudinal study has evaluated whether depressive symptoms predict subsequent WBC count or vice versa. We sought to evaluate the bidirect

  13. Autologous stem cell transplantation in the treatment of Hodgkin's disease

    OpenAIRE

    Tarabar Olivera; Tukić Ljiljana; Stamatović Dragana; Balint Bela; Elez Marija; Ostojić Gordana; Tatomirović Željka; Marjanović Slobodan

    2009-01-01

    Background/Aim. High-dose chemotherapy with autologous stem cell transplantacion (ASCT) has shown to produce long-term disease-free survival in patients with chemotherapysensitive Hodgkin disease. The aim of the study was to evaluate efficacy of ASCT in the treatment of Hodgkin's disease. Methods. Between May 1997 and September 2008, 34 patients with Hodgkin's disease in median age of 25 (range 16-60) years, underwent ASCT. Autologous SCT were performed as consolidation therapy in one poor-ri...

  14. Skeletal MR imaging in sickle cell disease

    International Nuclear Information System (INIS)

    The authors evaluated eight patients with sickle cell disease (mean age, 15.75 years; range 5-19 years) using MR imaging performed 24-72 hours after hospital admission for crisis. Coronal images of the lower extremities were obtained with a General Electric 1.5-T system and pulse sequences of TR/TE = 500/25 msec and 2,000/40, 80 msec. In three patients a mild decrease in signal intensity was seen on both T1- and T2-weighted images, probably secondary to marrow hyperplasia. In two patients a marked decrease in signal intensity was seen on both T1- and T2-weighted images, probably secondary to the diamagnetic effects of marrow iron. Six patients had bone infarct(s) which appeared as well-defined areas with prolonged T2 relaxation times. MR imaging appears promising for the evaluation of bone marrow in sickle cell anemia

  15. Rituximab therapy in a patient with low grade B-cell lymphoproliferative disease and concomitant acquired angioedema

    Directory of Open Access Journals (Sweden)

    Kaur R

    2014-12-01

    Full Text Available Ravdeep Kaur, Aerik Anthony Williams, Catherine Baker Swift, Jason W Caldwell Wake Forest University School of Medicine, Wake Forest University, Winston-Salem, NC, USA Abstract: Acquired angioedema is often associated with significant morbidity. An underlying lymphatic malignancy, autoimmune disorder, adenocarcinoma, or other malignancy may be present. Screening for these disorders should occur in all patients with acquired angioedema as treatment may result in resolution of angioedema. Keywords: complement, C1-INH deficiency, ecallantide, hemopathy

  16. Transcription Factor NFIB Is a Driver of Small Cell Lung Cancer Progression in Mice and Marks Metastatic Disease in Patients.

    Science.gov (United States)

    Semenova, Ekaterina A; Kwon, Min-Chul; Monkhorst, Kim; Song, Ji-Ying; Bhaskaran, Rajith; Krijgsman, Oscar; Kuilman, Thomas; Peters, Dennis; Buikhuisen, Wieneke A; Smit, Egbert F; Pritchard, Colin; Cozijnsen, Miranda; van der Vliet, Jan; Zevenhoven, John; Lambooij, Jan-Paul; Proost, Natalie; van Montfort, Erwin; Velds, Arno; Huijbers, Ivo J; Berns, Anton

    2016-07-19

    Small cell lung cancer (SCLC) is an aggressive neuroendocrine tumor, and no effective treatment is available to date. Mouse models of SCLC based on the inactivation of Rb1 and Trp53 show frequent amplifications of the Nfib and Mycl genes. Here, we report that, although overexpression of either transcription factor accelerates tumor growth, NFIB specifically promotes metastatic spread. High NFIB levels are associated with expansive growth of a poorly differentiated and almost exclusively E-cadherin (CDH1)-negative invasive tumor cell population. Consistent with the mouse data, we find that NFIB is overexpressed in almost all tested human metastatic high-grade neuroendocrine lung tumors, warranting further assessment of NFIB as a tumor progression marker in a clinical setting. PMID:27373156

  17. Transcription Factor NFIB Is a Driver of Small Cell Lung Cancer Progression in Mice and Marks Metastatic Disease in Patients

    Directory of Open Access Journals (Sweden)

    Ekaterina A. Semenova

    2016-07-01

    Full Text Available Small cell lung cancer (SCLC is an aggressive neuroendocrine tumor, and no effective treatment is available to date. Mouse models of SCLC based on the inactivation of Rb1 and Trp53 show frequent amplifications of the Nfib and Mycl genes. Here, we report that, although overexpression of either transcription factor accelerates tumor growth, NFIB specifically promotes metastatic spread. High NFIB levels are associated with expansive growth of a poorly differentiated and almost exclusively E-cadherin (CDH1-negative invasive tumor cell population. Consistent with the mouse data, we find that NFIB is overexpressed in almost all tested human metastatic high-grade neuroendocrine lung tumors, warranting further assessment of NFIB as a tumor progression marker in a clinical setting.

  18. Calcitonin stimulation tests for the early diagnosis and follow-up of patients with C cell disease: a descriptive analysis

    OpenAIRE

    Vainas, I; Marthopoulos, A; Chrisoulidou, A; Raptou, K; Tziomalos, K; Pazaitou-Panayiotou, K

    2013-01-01

    Background/Aim: Residual or recurrent medullary thyroid carcinoma (MTC) after thyroidectomy is diagnosed by elevated serum calcitonin (CT) levels. However, in minimal residual MTC or C-cell hyperplasia (CCH), where imaging studies are often negative, basal CT levels are frequently normal and CT stimulation tests are required. We aimed to compare CT stimulation tests with calcium, pentagastrin and their combination in identifying minimal residual MTC and CCH.

  19. Sickle Cell Disease and Pulmonary Hypertension

    Science.gov (United States)

    Sickle Cell Disease Pulmonary & PH Hypertension Did you know that if you have Sickle Cell Disease you are at risk for Pulmonary ... or PH, is a complex and often misunderstood disease. Pulmonary hypertension means high blood pressure that is located ...

  20. Isolation of Mallory bodies and an attempt to demonstrate cell mediated immunity to Mallory body isolate in patients with alcoholic liver disease

    DEFF Research Database (Denmark)

    Gluud, C; Hardt, F; Aldershvile, J;

    1981-01-01

    Mallory bodies were isolated from necropsy livers from patients with alcoholic hepatitis with and without cirrhosis with a Ficoll viscosity barrier. The purity of Mallory bodies in the isolate varied between 70 and 90%, estimated by counting Mallory bodies and non-Mallory body structures in haema...... found between controls and patients with alcoholic hepatitis, alcoholic steatosis, alcoholic cirrhosis and miscellaneous liver diseases....

  1. Alkylator-Induced and Patient-Derived Xenograft Mouse Models of Therapy-Related Myeloid Neoplasms Model Clinical Disease and Suggest the Presence of Multiple Cell Subpopulations with Leukemia Stem Cell Activity

    Science.gov (United States)

    Johnson, Carl; Gratzinger, Dita; Majeti, Ravindra

    2016-01-01

    Acute myeloid leukemia (AML) is a heterogeneous group of aggressive bone marrow cancers arising from transformed hematopoietic stem and progenitor cells (HSPC). Therapy-related AML and MDS (t-AML/MDS) comprise a subset of AML cases occurring after exposure to alkylating chemotherapy and/or radiation and are associated with a very poor prognosis. Less is known about the pathogenesis and disease-initiating/leukemia stem cell (LSC) subpopulations of t-AML/MDS compared to their de novo counterparts. Here, we report the development of mouse models of t-AML/MDS. First, we modeled alkylator-induced t-AML/MDS by exposing wild type adult mice to N-ethyl-N-nitrosurea (ENU), resulting in several models of AML and MDS that have clinical and pathologic characteristics consistent with human t-AML/MDS including cytopenia, myelodysplasia, and shortened overall survival. These models were limited by their inability to transplant clinically aggressive disease. Second, we established three patient-derived xenograft models of human t-AML. These models led to rapidly fatal disease in recipient immunodeficient xenografted mice. LSC activity was identified in multiple HSPC subpopulations suggesting there is no canonical LSC immunophenotype in human t-AML. Overall, we report several new t-AML/MDS mouse models that could potentially be used to further define disease pathogenesis and test novel therapeutics. PMID:27428079

  2. Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient.

    Science.gov (United States)

    Gonc, Nazli; Engiz, Ozlem; Neumann, Hartmut P H; Demirbilek, Huseyin; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun

    2011-01-01

    Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor susceptibility disease characterized by the development of hemangioblastomas of the brain, spinal cord and retina; pheochromocytomas and renal cell carcinoma. The disease is caused by mutations in the VHL tumor suppressor gene located on chromosome 3p26-p25. In this paper, we present two patients with VHL disease type 2B confirmed by genetic analysis. Diagnosis in the first patient was based on demonstration of retinal hemangioblastoma in association with bilateral pheochromocytoma. Family screening revealed renal cell carcinoma in her father and uncle. The second patient was discovered during family screening of another index case in adult age. VHL disease should be clinically suspected in any individual with a pheochromocytoma especially when there is bilateral and/or multifocal disease or family history. Screening of patients and at-risk family members for VHL-associated tumors should be essential in management of VHL. PMID:21528828

  3. Mechanisms Linking Red Blood Cell Disorders and Cardiovascular Diseases

    Directory of Open Access Journals (Sweden)

    Ioana Mozos

    2015-01-01

    Full Text Available The present paper aims to review the main pathophysiological links between red blood cell disorders and cardiovascular diseases, provides a brief description of the latest studies in this area, and considers implications for clinical practice and therapy. Anemia is associated with a special risk in proatherosclerotic conditions and heart disease and became a new therapeutic target. Guidelines must be updated for the management of patients with red blood cell disorders and cardiovascular diseases, and targets for hemoglobin level should be established. Risk scores in several cardiovascular diseases should include red blood cell count and RDW. Complete blood count and hemorheological parameters represent useful, inexpensive, widely available tools for the management and prognosis of patients with coronary heart disease, heart failure, hypertension, arrhythmias, and stroke. Hypoxia and iron accumulation cause the most important cardiovascular effects of sickle cell disease and thalassemia. Patients with congenital chronic hemolytic anemia undergoing splenectomy should be monitored, considering thromboembolic and cardiovascular risk.

  4. Tibial and fibular angles in homozygous sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Akamaguna, A.I.; Odita, J.C.; Ugbodaga, C.I.; Okafor, L.A.

    1986-05-01

    Measurements of the tibial and fibular angles made on ankle radiographs of 34 patients with sickle cell disease were compared with those of 36 normal Nigerians. Widening of the fibular angle, which is an indication of tibiotalar slant, was demonstrated in about 79% of sickle cell disease patients. By using fibular angle measurements as an objective method of assessing subtle tibiotalar slant, it is concluded that the incidence of this deformity is much higher among sickle cell disease patients than previously reported. The mean values of tibial and fibular angles in normal Nigerians are higher than has been reported amongst Caucasians.

  5. Tibial and fibular angles in homozygous sickle cell disease

    International Nuclear Information System (INIS)

    Measurements of the tibial and fibular angles made on ankle radiographs of 34 patients with sickle cell disease were compared with those of 36 normal Nigerians. Widening of the fibular angle, which is an indication of tibiotalar slant, was demonstrated in about 79% of sickle cell disease patients. By using fibular angle measurements as an objective method of assessing subtle tibiotalar slant, it is concluded that the incidence of this deformity is much higher among sickle cell disease patients than previously reported. The mean values of tibial and fibular angles in normal Nigerians are higher than has been reported amongst Caucasians. (orig.)

  6. Retrospective analysis of a B cell depletion therapy with rituximab in patients with systemic rheumatic autoimmune diseases refractory to standard therapy

    OpenAIRE

    Haasler, Nadja

    2016-01-01

    Objective: To assess the efficacy of rituximab (a chimeric monoclonal anti-CD20 antibody, RTX) in patients with 3 different rheumatic diseases: systemic lupus erythematodes (SLE), granulomatosis with polyangiitis (GPA, Wegener granulomatosis), scleroderma/polymyositis overlap syndrome. Methods: This is a retrospective study of case series of patients and the effects of RTX on clinical, serological and immunological parameters. Therefore we analysed data from 21 patients who had been treate...

  7. Pretreatment metabolic tumour volume is predictive of disease-free survival and overall survival in patients with oesophageal squamous cell carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Lemarignier, Charles; Gouel, Pierrick [Centre Henri Becquerel and Rouen University Hospital, Department of Nuclear Medicine, Rouen (France); Di Fiore, Frederic [Rouen University Hospital, Department of Gastroenterology, Rouen (France); Centre Henri Becquerel, Department of Medical oncology, Rouen (France); Marre, Charline; Michel, Pierre [Rouen University Hospital, Department of Gastroenterology, Rouen (France); Hapdey, Sebastien; Modzelewski, Romain; Vera, Pierre [Centre Henri Becquerel and Rouen University Hospital, Department of Nuclear Medicine, Rouen (France); University of Rouen, QuantIF (Litis EA 4108 - FR CNRS 3638), Rouen (France); Dubray, Bernard [University of Rouen, QuantIF (Litis EA 4108 - FR CNRS 3638), Rouen (France); Centre Henri Becquerel and Rouen University Hospital, Department of Radiotherapy and Medical Physics, Rouen (France)

    2014-11-15

    It has been suggested that FDG PET has predictive value for the prognosis of treated oesophageal carcinoma. However, the studies reported in the literature have shown discordant results. The aim of this study was to determine whether pretherapy quantitative metabolic parameters correlate with patient outcomes. Included in the study were 67 patients with a histological diagnosis of oesophageal squamous cell carcinoma. Each patient underwent {sup 18}F-FDG PET (4.5 MBq/kg) before chemoradiotherapy. Quantitative analysis was performed using the following parameters: age, weight loss, location, N stage, OMS performance status, MTV{sub p} and MTV{sub p'} (metabolic tumour volume determined by two different physicians), MTV{sub 40%} (volume for a threshold of 40 % of SUVmax), MTV{sub a} (volume automatically determined with a contrast-based adaptive threshold method), SUVmax, SUVmean and TLG (total lesion glycolysis). MTV{sub p} and MTV{sub 40%} were highly correlated (Pearson's index 0.92). SUVmean{sub p} and SUVmean{sub 40%} were also correlated (Pearson's index 0.86), as were TLG{sub p} and TLG{sub 40%} (Pearson's index 0.98). Similarly, the parameters obtained with the adaptive threshold method (MTV{sub a}, SUVmean{sub a} and TLG{sub a}) were correlated with those obtained manually (MTV{sub p}, SUVmean{sub p} and TLG{sub p}). The manual metabolic tumour volume determination (MTV{sub p} and MTV{sub p'}) was reproducible. Multivariate analysis for disease-free survival (DFS) showed that a larger MTV{sub p} was associated with a shorter DFS (p = 0.004) and that a higher SUVmax was associated with a longer DFS (p = 0.02). Multivariate analysis for overall survival (OS) showed that a larger MTV{sub p} was associated with a shorter OS (p = 0.01) and that a tumour in the distal oesophagus was associated with a longer OS (p = 0.005). The associations among the other parameters were not statistically significant. Metabolic tumour volume is a major

  8. Myogenic differentiation of FSHD patient specific induced pluripotent stem cells

    OpenAIRE

    Bosnakovski, Darko

    2012-01-01

    Human induced pluripotent stem (IPS) cells overcome several disadvantages of human embryonic stem cells, including host specificity and ethical issues. Patient-specific IPS cells can be generated from every donor by using different cell types, making them a suitable tool for autologous cell therapy and tissue engineering. IPS cells generated from patients with genetic disorders capture the disease genotype in the cell, making them a good model for studying the pathology of the diseas...

  9. Heart Valve Disease among Patients with Hyperprolactinaemia

    DEFF Research Database (Denmark)

    Steffensen, 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....

  10. Orbital infarction in sickle cell disease

    International Nuclear Information System (INIS)

    Bone infarction is common in sickle cell disease; however, involvement of the orbit is not. Only four cases have been reported in the English literature. We describe a patient who presented with headache, proptosis and lid edema due to infarction of the sphenoid bone. The combination of radionuclide bone imaging and computed tomography (CT) of the orbit were useful in differentiating bone infarction from other etiologies of proptosis. (orig.)

  11. Stem Cell Therapy for Heart Disease

    OpenAIRE

    Puliafico, Shannon B.; Penn, Marc S.; Silver, Kevin H.

    2013-01-01

    Coronary artery disease is the leading cause of death in Americans. After myocardial infarction, significant ventricular damage persists despite timely reperfusion and pharmacological management. Treatment is limited, as current modalities do not cure this damage. In the past decade, stem cell therapy has emerged as a promising therapeutic solution to restore myocardial function. Clinical trials have demonstrated safety and beneficial effects in patients suffering from acute myocardial infarc...

  12. Cytometric evaluation of intracellular IFN-γ and IL-4 levels in thyroid follicular cells from patients with autoimmune thyroid diseases

    Directory of Open Access Journals (Sweden)

    Bossowski Artur

    2011-09-01

    Full Text Available Abstract Background In recent few years is underlined that altered balance of pro- and anti-inflammatory cytokines play an important role in the pathogenesis of AITD. The aim of this study was to estimate intracellular INF-γ and IL-4 levels in thyroid-infiltrating lymphocytes and thyrocytes isolated from thyroid tissues in 54 adolescent patients aged 8-21 years, with Graves' disease (GD; n = 18, Hashimoto's thyroiditis (HT; n = 18 and non-toxic multinodular goiter (NTMG; n = 18. Methods Fresh thyroid tissues were taken on culture medium RPMI -1640, it was mechanically prepared. In next step were added cell activators -12- myristate 13- the acetate (PMA and Ionomycin as well as the inhibitor of transportation of proteins - Breferdin A. They were cultured 24 hours in 50 ml flasks at 37°C in a 5-95% CO2-air water-saturated atmosphere. After that, thyrocytes were identified by mouse mAb directed against human TPO epitope 64 conjugated with rabbit anti-mouse antibodies IgG (Fab'2 labeled by FITC. After incubation at room temperature to each of samples added reagent A fixative the cellular membrane. In next step into the cell suspensions were added reagent B to permeabilization of cellular membrane and specific anti-IL-4-PE or anti-IFN-γ-PE mAbs. Identification of intracellular cytokines in T lymphocytes was performed in the same procedure with application of anti-CD4-PerCP and anti-CD8-PerCP mAbs specific for T lymphocytes. The cells were analyzed in a flow cytometry (Coulter EPICS XL. Results In examined group of patients with GD we observed statistically significant higher mean percentage of cells with phenotype CD4+IL-4 (p Conclusions We conclude that human thyrocytes in autoimmune thyroid disorders could be a source of cytokine production and that their activation influences local interaction with T lymphocytes inflowing to the thyroid gland.

  13. Obstructive lung disease in acute medical patients.

    OpenAIRE

    Seemungal, T.; Harrinarine, R.; Rios, M.; Abiraj, V.; Ali, A.; Lacki, N.; Mahabir, N.; Ramoutar, V.; King, C. P.; Bhowmik, A.; Wedzicha, J A

    2008-01-01

    OBJECTIVES: To determine the proportion of adult medical patients who have chronic obstructive pulmonary disease (COPD), using the Global initiative for Chronic Obstructive Lung Disease guidelines (GOLD), and its relation to vascular disease. METHODS: This is a prospective cross-sectional study of adult patients admitted to acute medical wards. Interviewer administered questionnaire, anthropometric and spirometric measurements were done. RESULTS: Spirometry was performed in 720 acute admissio...

  14. Motility-related protein-1 (MRP-1/CD9) expression can predict disease-free survival in patients with squamous cell carcinoma of the head and neck.

    Science.gov (United States)

    Mhawech, P; Dulguerov, P; Tschanz, E; Verdan, C; Ares, C; Allal, A S

    2004-01-26

    CD9 is a transmembrane protein that has been implicated in cell adhesion, motility and proliferation, and numerous studies have demonstrated the prognostic value of its expression in different solid tumours. The purpose of this study is to determine the predictive value of CD9 in squamous cell carcinoma (SCC) of the head and neck. A total of 153 cases were examined for CD9 expression using immunohistochemistry applied on formalin-fixed, paraffin-embedded tissue. Cases were stratified in two categories depending on CD9 expression, as positive (>/=50% positive cells) or reduced (<50%). In all, 108 cases were positive for CD9 (85 cases with membranous, and 23 with both membranous and cytoplasmic staining) and 45 reduced expression. Reduced CD9 expression was significantly associated with high grade (P=0.0007) and lower disease-free survival (DFS) (P=0.017). The latter retained its significance in the multivariate analysis. When the 23 cases with both membranous and cytoplasmic patterns were studied as a separate subgroup, there were significant associations between CD9 expression and tumour grade (P=0.025) (95% CI 11-68), tumour stage (P=0.08) (95% CI 3.5-86) and the occurrence of any failure (P=0.083) (95% CI -1.7-57). Immunohistochemical CD9 expression proved to be an independent prognostic factor in SCC of the head and neck, and it may detect patients at a high risk of recurrence. In addition, the cytoplasmic pattern seems to have an even more significant value. However, this finding is limited to the small number of cases with this pattern. PMID:14735195

  15. Intracardiac Thrombosis in Sickle Cell Disease.

    Science.gov (United States)

    Nikparvar, Marzieh; Evazi, Mohammad Reza; Eftekhari, Tasnim; Moosavi, Farzaneh

    2016-03-01

    In patients with sickle cell disease, thrombotic microangiopathy is a rare complication. Also in sickle cell disease, intracardiac thrombus formation without structural heart diseases or atrial arrhythmias is a rare phenomenon. We herein describe a 22-year-old woman, who was a known case of sickle cell-βthalassemia, had a history of recent missed abortion, and was admitted with a vaso-occlusive crisis. The patient had manifestations of microangiopathic hemolytic anemia, including laboratory evidence of hemolytic anemia, thrombocytopenia, respiratory distress, fever, jaundice, and abnormal liver function and coagulation tests, accompanied by clot formation on the Eustachian valve of the inferior vena cava in the right atrium and also a long and worm-like thrombus in the right ventricle. Therapeutic plasma exchange improved her clinical condition, and her intracardiac thrombus was completely resolved after 1 week. Echocardiography, as a simple and inexpensive imaging modality, had a significant role in the diagnosis and follow-up of this patient. PMID:26989287

  16. Intracardiac Thrombosis in Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Marzieh Nikparvar

    2016-03-01

    Full Text Available In patients with sickle cell disease, thrombotic microangiopathy is a rare complication. Also in sickle cell disease, intracardiac thrombus formation without structural heart diseases or atrial arrhythmias is a rare phenomenon. We herein describe a 22-year-old woman, who was a known case of sickle cell-βthalassemia, had a history of recent missed abortion, and was admitted with a vaso-occlusive crisis. The patient had manifestations of microangiopathic hemolytic anemia, including laboratory evidence of hemolytic anemia, thrombocytopenia, respiratory distress, fever, jaundice, and abnormal liver function and coagulation tests, accompanied by clot formation on the Eustachian valve of the inferior vena cava in the right atrium and also a long and worm-like thrombus in the right ventricle. Therapeutic plasma exchange improved her clinical condition, and her intracardiac thrombus was completely resolved after 1 week. Echocardiography, as a simple and inexpensive imaging modality, had a significant role in the diagnosis and follow-up of this patient.

  17. Peripheral artery disease in patients with coronary artery disease.

    Science.gov (United States)

    Atmer, B; Jogestrand, T; Laska, J; Lund, F

    1995-03-01

    The prevalence of peripheral vascular disease in patients with coronary artery disease has been investigated in many different ways and depends on the diagnostic methods and the definition of the atherosclerotic manifestations in the different vascular beds. In this study we used the non-invasive methods digital volume pulse plethysmography and ankle and toe blood pressure measurements to identify arterial abnormalities in the lower limbs in 58 patients (49 males and 9 females; age 37-72 years) examined with coronary angiography. The prevalence of peripheral artery disease was 22%, in agreement with the results of most previous investigations. There was a tendency towards increasing prevalence of peripheral artery disease with more advanced coronary artery disease: 14% of the patients with no or minimal coronary atheromotous lesions, 18% of the patients with moderate coronary atheromotous lesions and 32% of the patients with marked coronary atheromotous disease. For this reason a non-invasive investigation of the peripheral arterial circulation should be included early in the clinical consideration of patients with chest pain or similar symptoms suggesting coronary heart disease. Toe pressure measurement appears to be the most appropriate technique being rather simple in management and also in evaluation of results. PMID:7658111

  18. New concepts in assessing sickle cell disease severity

    NARCIS (Netherlands)

    Schnog, JJB; Lard, LR; Rojer, RA; Van der Dijs, FPL; Muskiet, FAJ; Duits, AJ

    1998-01-01

    Vasoocclusion leads to pain, chronic organ damage, and a decreased life expectancy in patients with sickle cell disease. Therapeutic options for sickle cell disease have usually been evaluated according to their capacity for reducing the frequency of vasoocclusive crises requiring clinical attention

  19. Treatment Of Sickle Cell Disease

    KAUST Repository

    Essack, Magbubah

    2014-12-04

    The present invention includes embodiments for treatment and/or prevention of sickle cell disease that employ Hydroxyfasudil or Isocoronarin D alone or either in conjunction with each other or an inducer of HbF production. The compounds may act synergistically, and the compounds employed circumvent the side effects seen with Hydroxyurea.

  20. Reduced numbers of mucosal DR(int) macrophages and increased numbers of CD103(+) dendritic cells during anti-TNF-α treatment in patients with Crohn's disease.

    Science.gov (United States)

    Dige, Anders; Magnusson, Maria K; Öhman, Lena; Hvas, Christian Lodberg; Kelsen, Jens; Wick, Mary Jo; Agnholt, Jørgen

    2016-06-01

    Objective Anti-TNF-α treatment constitutes a mainstay in the treatment of Crohn's disease (CD), but its mechanisms of action are not fully understood. We aimed to investigate the effects of adalimumab, a human monoclonal TNF-α antibody, on macrophage (MQ) and dendritic cell (DC) subsets in mucosal biopsies and peripheral blood. Material and methods Intestinal biopsies and blood samples were obtained from 12 different CD patients both before and 4 weeks after the initiation of the induction of adalimumab treatment. Endoscopic disease activity was estimated by the Simple Endoscopic Score for Crohn's Disease. Biopsies were obtained from inflamed and non-inflamed areas. The numbers of lamina propria CD14 (+) DR(int) and CD14 (+) DR(hi) MQs, CD141(+), CD141(-) and CD103(+ )DCs subsets, and circulating monocytes and DCs were analyzed using flow cytometry. Results At baseline, we observed higher numbers of DR(int) MQs and lower numbers of CD103(+ )DCs in inflamed versus non-inflamed mucosa [843 vs. 391/10(5) lamina propria mononuclear cells (LPMCs) (p < 0.05) and 9 vs. 19 × 10(5) LPMCs (p = 0.01), respectively]. After four weeks of adalimumab treatment, the numbers of DR(int) MQs decreased [843 to 379/10(5) LPMCs (p = 0.03)], whereas the numbers of CD103(+ )DCs increased [9-20 × 10(5) LPMCs (p = 0.003)] compared with baseline. In peripheral blood, no alterations were observed in monocyte or DC numbers between baseline and week 4. Conclusions In CD, mucosal inflammation is associated with high numbers of DR(int) MQs and low numbers of CD103(+ )DCs. This composition of intestinal myeloid subsets is reversed by anti-TNF-α treatment. These results suggest that DR(int) MQs play a pivotal role in CD inflammation. PMID:26784676

  1. In Patients with Coronary Artery Disease and Type 2 Diabetes, SIRT1 Expression in Circulating Mononuclear Cells Is Associated with Levels of Inflammatory Cytokines but Not with Coronary Lesions

    OpenAIRE

    Yuanmin Li; Jing Ni; Rong Guo; Weiming Li

    2016-01-01

    While SIRT1 is significantly associated with atherosclerosis and diabetic complications, its relevance to coronary lesions in patients with coronary artery disease and type 2 diabetes has not been specifically investigated. Thus, we assessed SIRT1 expression in peripheral blood mononuclear cells in these patients. We found that SIRT1 expression did not significantly correlate with syntax scores from coronary angiography (p > 0.05). Notably, plasma levels of the inflammatory cytokines tumor ne...

  2. Persistent γδ T large granular lymphocytosis in a patient with refractory pure red cell aplasia, celiac disease, and chronic hepatitis B infection

    Science.gov (United States)

    Sreedharanunni, S; Sachdeva, MUS; Prakash, G; Das, R

    2016-01-01

    The disorders of large granular lymphocytes include reactive proliferation as well as indolent or aggressive neoplasms of cytotoxic T cells, γδ T cells, and natural killer (NK) cells. They are associated with autoimmune and infectious disorders and have varied immunophenotypic features. We report a case, which highlights this complex association of autoimmune and infectious diseases with large granular lymphocytosis, the overlapping spectrum of large granular lymphocyte leukemias, and γδ T cell lymphomas as well as the difficulties in the diagnosis and management of these indolent T cell lymphomas in the usual clinical settings. PMID:26515990

  3. Stem Cells Applications in Regenerative Medicine and Disease Therapeutics

    OpenAIRE

    Mahla, Ranjeet Singh

    2016-01-01

    Regenerative medicine, the most recent and emerging branch of medical science, deals with functional restoration of tissues or organs for the patient suffering from severe injuries or chronic disease. The spectacular progress in the field of stem cell research has laid the foundation for cell based therapies of disease which cannot be cured by conventional medicines. The indefinite self-renewal and potential to differentiate into other types of cells represent stem cells as frontiers of regen...

  4. Synaptic Cell Adhesion Molecules in Alzheimer's Disease

    Science.gov (United States)

    Leshchyns'ka, Iryna

    2016-01-01

    Alzheimer's disease (AD) is a neurodegenerative brain disorder associated with the loss of synapses between neurons in the brain. Synaptic cell adhesion molecules are cell surface glycoproteins which are expressed at the synaptic plasma membranes of neurons. These proteins play key roles in formation and maintenance of synapses and regulation of synaptic plasticity. Genetic studies and biochemical analysis of the human brain tissue, cerebrospinal fluid, and sera from AD patients indicate that levels and function of synaptic cell adhesion molecules are affected in AD. Synaptic cell adhesion molecules interact with Aβ, a peptide accumulating in AD brains, which affects their expression and synaptic localization. Synaptic cell adhesion molecules also regulate the production of Aβ via interaction with the key enzymes involved in Aβ formation. Aβ-dependent changes in synaptic adhesion affect the function and integrity of synapses suggesting that alterations in synaptic adhesion play key roles in the disruption of neuronal networks in AD. PMID:27242933

  5. Resilience in Patients with Ischemic Heart Disease

    OpenAIRE

    Conceição Maria Martins de Lemos; David William Moraes; Lucia Campos Pellanda

    2016-01-01

    Background: Resilience is a psychosocial factor associated with clinical outcomes in chronic diseases. The relationship between this protective factor and certain diseases, such heart diseases, is still under-explored. Objective: The present study sought to investigate the frequency of resilience in individuals with ischemic heart disease. Method: This was a cross-sectional study with 133 patients of both genders, aged between 35 and 65 years, treated at Rio Grande do Sul Cardiology Institu...

  6. Cardiovascular disease in patients with chronic kidney disease

    OpenAIRE

    Julian Wright; Alastair Hutchison

    2009-01-01

    Julian Wright, Alastair HutchisonManchester Institute of Nephrology and Transplantation, Manchester Royal Infirmary, Manchester, UKAbstract: Patients with chronic kidney disease have a high burden of cardiovascular morbidity and mortality. The vast majority of patients with chronic kidney disease do not progress to end stage renal failure, but do have a significantly higher incidence of all cardiovascular co-morbidities. Traditional cardiovascular risk factors only partially account for this ...

  7. Asthma in Sickle Cell Disease: Implications for Treatment

    Directory of Open Access Journals (Sweden)

    Kathryn Blake

    2011-01-01

    Full Text Available Objective. To review issues related to asthma in sickle cell disease and management strategies. Data Source. A systematic review of pertinent original research publications, reviews, and editorials was undertaken using MEDLlNE, the Cochrane Library databases, and CINAHL from 1947 to November 2010. Search terms were [asthma] and [sickle cell disease]. Additional publications considered relevant to the sickle cell disease population of patients were identified; search terms included [sickle cell disease] combined with [acetaminophen], [pain medications], [vitamin D], [beta agonists], [exhaled nitric oxide], and [corticosteroids]. Results. The reported prevalence of asthma in children with sickle cell disease varies from 2% to approximately 50%. Having asthma increases the risk for developing acute chest syndrome , death, or painful episodes compared to having sickle cell disease without asthma. Asthma and sickle cell may be linked by impaired nitric oxide regulation, excessive production of leukotrienes, insufficient levels of Vitamin D, and exposure to acetaminophen in early life. Treatment of sickle cell patients includes using commonly prescribed asthma medications; specific considerations are suggested to ensure safety in the sickle cell population. Conclusion. Prospective controlled trials of drug treatment for asthma in patients who have both sickle cell disease and asthma are urgently needed.

  8. Isolated tumor cells in stage I & II colon cancer patients are associated with significantly worse disease-free and overall survival

    OpenAIRE

    Weixler, B.; Warschkow, R.; Güller, U; Zettl, A.; von Holzen, U.; Schmied, B M; Zuber, M.

    2016-01-01

    Background Lymph node (LN) involvement represents the strongest prognostic factor in colon cancer patients. The objective of this prospective study was to assess the prognostic impact of isolated tumor cells (ITC, defined as cell deposits ≤ 0.2 mm) in loco-regional LN of stage I & II colon cancer patients. Methods Seventy-four stage I & II colon cancer patients were prospectively enrolled in the present study. LN at high risk of harboring ITC were identified via an in vivo sentinel lymph node...

  9. Nitric oxide synthetic pathway and cGMP levels are altered in red blood cells from end-stage renal disease patients.

    Science.gov (United States)

    Di Pietro, Natalia; Giardinelli, Annalisa; Sirolli, Vittorio; Riganti, Chiara; Di Tomo, Pamela; Gazzano, Elena; Di Silvestre, Sara; Panknin, Christina; Cortese-Krott, Miriam M; Csonka, Csaba; Kelm, Malte; Ferdinandy, Péter; Bonomini, Mario; Pandolfi, Assunta

    2016-06-01

    Red blood cells (RBCs) enzymatically produce nitric oxide (NO) by a functional RBC-nitric oxide synthase (RBC-NOS). NO is a vascular key regulatory molecule. In RBCs its generation is complex and influenced by several factors, including insulin, acetylcholine, and calcium. NO availability is reduced in end-stage renal disease (ESRD) and associated with endothelial dysfunction. We previously demonstrated that, through increased phosphatidylserine membrane exposure, ESRD-RBCs augmented their adhesion to human cultured endothelium, in which NO bioavailability decreased. Since RBC-NOS-dependent NO production in ESRD is unknown, this study aimed to investigate RBC-NOS levels/activation, NO production/bioavailability in RBCs from healthy control subjects (C, N = 18) and ESRD patients (N = 27). Although RBC-NOS expression was lower in ESRD-RBCs, NO, cyclic guanosine monophosphate (cGMP), RBC-NOS Serine1177 phosphorylation level and eNOS/Calmodulin (CaM)/Heat Shock Protein-90 (HSP90) interaction levels were higher in ESRD-RBCs, indicating increased enzyme activation. Conversely, following RBCs stimulation with insulin or ionomycin, NO and cGMP levels were significantly lower in ESRD- than in C-RBCs, suggesting that uremia might reduce the RBC-NOS response to further stimuli. Additionally, the activity of multidrug-resistance-associated protein-4 (MRP4; cGMP-membrane transporter) was significantly lower in ESRD-RBCs, suggesting a possible compromised efflux of cGMP across the ESRD-RBCs membrane. This study for the first time showed highest basal RBC-NOS activation in ESRD-RBCs, possibly to reduce the negative impact of decreased NOS expression. It is further conceivable that high NO production only partially affects cell function of ESRD-RBCs maybe because in vivo they are unable to respond to physiologic stimuli, such as calcium and/or insulin. PMID:27206740

  10. Peripheral Tc17 and Tc17/Interferon-γ Cells are Increased and Associated with Lung Function in Patients with Chronic Obstructive Pulmonary Disease

    OpenAIRE

    Wei-Han Xu; Xiao-Ling Hu; Xiao-Fang Liu; Peng Bai; Yong-Chang Sun

    2016-01-01

    Background: Chronic obstructive pulmonary disease (COPD) is characterized by progressive loss of lung function and local and systemic inflammation, in which CD8+ T-cells are believed to play a key role. Activated CD8+ T-cells differentiate into distinct subpopulations, including interferon-γ (IFN-γ)-producing Tc1 and interleukin (IL)-17-producing Tc17 cells. Recent evidence indicates that Tc17 cells exhibit considerable plasticity and may convert into IL-17/IFN-γ-double producing (Tc17/IFN-γ)...

  11. A hemodynamic study of pulmonary hypertension in sickle cell disease.

    OpenAIRE

    Parent, Florence; Bachir, Dora; Inamo, Jocelyn; Lionnet, François; Driss, Françoise; Loko, Gylna; Habibi, Anoosha; Bennani, Soumiya; Savale, Laurent; Adnot, Serge; Maitre, Bernard; Yaïci, Azzedine; Hajji, Leila; O'Callaghan, Dermot; Clerson, Pierre

    2011-01-01

    BACKGROUND: The prevalence and characteristics of pulmonary hypertension in adults with sickle cell disease have not been clearly established. METHODS: In this prospective study, we evaluated 398 outpatients with sickle cell disease (mean age, 34 years) at referral centers in France. All patients underwent Doppler echocardiography, with measurement of tricuspid-valve regurgitant jet velocity. Right heart catheterization was performed in 96 patients in whom pulmonary hypertension was suspected...

  12. Mast cells in airway diseases and interstitial lung disease.

    Science.gov (United States)

    Cruse, Glenn; Bradding, Peter

    2016-05-01

    Mast cells are major effector cells of inflammation and there is strong evidence that mast cells play a significant role in asthma pathophysiology. There is also a growing body of evidence that mast cells contribute to other inflammatory and fibrotic lung diseases such as chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis. This review discusses the role that mast cells play in airway diseases and highlights how mast cell microlocalisation within specific lung compartments and their cellular interactions are likely to be critical for their effector function in disease. PMID:25959386

  13. Peripheral vascular disease in patients with coronary artery disease

    International Nuclear Information System (INIS)

    Objective: The prevalence of peripheral vascular disease (PVD) in patients with coronary artery disease (CAD) has been investigated in many different ways. It depends on the diagnostic methods used and definition of atherosclerotic manifestations in the different vascular beds. This study was carried out to determine the prevalence of PVD in the lower limbs in group of patients with CAD. Design: This is a prospective observational study. Place and duration of study: The study was conducted at Combined Military Hospital/Armed Forces institute of Cardiology, Rawalpindi, over a period of one year (January 1998 to January 1999). Subjects and methods: A total number of 200 patient (171 male and 29 females) aged 55-77 years with CAD. Diagnosed by coronary angiography were included in the study. In all patients blood pressure was recorded in both arms by sphygmomanometer and ankle systolic pressure by Doppler ultrasound. Ankle branchial index was calculated. Demographic data were obtained from the patient's hospital files. Results: The prevalence of PVD was 22.5% in patients with CAD in agreement with the results of most previous investigation. There was tendency towards increasing prevalence of PVD with more advanced CAD. Thirty patients (27%) showed evidence of triple vessel disease as compared to 13 patient (18%) with double vessel and 2 patients (1%) with single vessel disease. Conclusion: A non-invasive investigation of peripheral arterial circulation should be included early in the clinical consideration of patients with chest pain or similar symptoms suggesting coronary artery disease. Ankle systolic pressure appears to be simple and cheap technique for evaluation of results. (author)

  14. Pluripotent Stem Cell Models of Human Heart Disease

    OpenAIRE

    Moretti, Alessandra; Laugwitz, Karl-Ludwig; Dorn, Tatjana; Sinnecker, Daniel; Mummery, Christine

    2013-01-01

    Understanding the molecular basis of many cardiac diseases has been hampered by the lack of appropriate in vitro cell culture models that accurately reflect the human disease phenotypes. In the past few years, remarkable advances in stem cell biology have made possible this long-standing ambition—the generation of human and even patient-specific cellular models of diseases. Combined with other novel technologies in the fields of human genetics, tissue engineering, and gene-targeted manipulati...

  15. Induction of systemic CTL responses in melanoma patients by dendritic cell vaccination: Cessation of CTL responses is associated with disease progression

    DEFF Research Database (Denmark)

    Andersen, M.H.; Keikavoussi, P.; Brocker, E.B.;

    2001-01-01

    substantially stalled and both patients were alive for more than 15 months after initiation of therapy. Specific CTL reactivity against several tumor antigens was detectable in peripheral blood, which declined just before reactivation of disease progression. Furthermore, CD3 zeta -chain expression detected by...

  16. Sickle Cell Disease: "Be Sickle Smart!"

    Science.gov (United States)

    ... page please turn Javascript on. Special Section: Sickle Cell Disease "Be Sickle Smart! " Past Issues / Winter 2011 ... Singer Ruben Studdard fights for those with sickle cell disease Recording artist and former American Idol winner ...

  17. Regulatory T cells and B cells: implication on autoimmune diseases

    OpenAIRE

    Wang, Ping; Zheng, Song Guo

    2013-01-01

    The regulatory T (Treg) cells play an important role in the maintenance of homeostasis and the prevention of autoimmune diseases. Although most studies are focusing on the role of Treg cells in T cells and T cells-mediated diseases, these cells also directly affect B cells and other non-T cells. This manuscript updates the role of Treg cells on the B cells and B cell-mediated diseases. In addition, the mechanisms whereby Treg cells suppress B cell responses have been discussed.

  18. Chronic Liver Disease: Stem Cell Therapy

    Directory of Open Access Journals (Sweden)

    Gamal MA Hassan

    2013-03-01

    Full Text Available Chronic liver diseases (CLD affect hundreds of millions of patientsworldwide. Stem Cells (SCs therapy to treat chronic liver diseasesis resorted and is considered as the dream of the future. AlthoughSCs are a promising means for treatment of liver diseases, studiesare still at the beginning of this era. SCs are undifferentiatedcells capable of renewing themselves throughout their life and ofgenerating one or more types of differentiated cells. Different typesof SCs with hepatic differentiation potential are theoretically eligiblefor liver cell replacement. These include Embryonic and fetal liverSCs, induced pluripotent SCs, hepatoblasts, annex SCs (pluripotentSCs obtained from umbilical cord and umbilical cord blood,placenta and amniotic fluid, and adult SCs, such hepatic progenitorcells, hematopoietic SCs, and mesenchymal stem cell. The optimalSCs delivery route should be easy to perform, less invasive andtraumatic, minimum side effects, and with high cells survival rate.Liver SCs can be transplanted through several routes: Intraperitonealand percutaneous intrahepatic artery catheterization in acute liverfailure, and umbilical vein catheterization, percutaneous intrahepaticroute, and portal vein or intrahepatic artery catheterization inmetabolic liver diseases. Whatever the source or delivery route ofSCs, how they can be manipulated for therapeutic interventionsin a variety of hepatic diseases is of course of great interest infuture studies. Although all clinical trials to date have shown someimprovement in liver function and CD34+ cells have been usedsafely for bone marrow transplantation for over 20 years, onlyrandomized controlled clinical trials will be able to fully assess thepotential clinical benefit of adult SCs therapy for patients with CLD.

  19. Stem cell transplantation improves aging-related diseases

    OpenAIRE

    Ikehara, Susumu; LI Ming

    2014-01-01

    Aging is a complex process of damage accumulation, and has been viewed as experimentally and medically intractable. The number of patients with age-associated diseases such as type 2 diabetes mellitus (T2DM), osteoporosis, Alzheimer's disease (AD), Parkinson's disease, atherosclerosis, and cancer has increased recently. Aging-related diseases are related to a deficiency of the immune system, which results from an aged thymus and bone marrow cells. Intra bone marrow-bone marrow transplantation...

  20. Air pollution and children's health: sickle cell disease

    OpenAIRE

    Silvia Maria de Macedo Barbosa; Sylvia Costa Lima Farhat; Lourdes Conceição Martins; Luiz Alberto Amador Pereira; Paulo Hilário Nascimento Saldiva; Antonella Zanobetti; Alfésio Luís Ferreira Braga

    2015-01-01

    The hallmarks of sickle cell disease are anemia and vasculopathy. The aim of this study was to assess the association between air pollution and children's emergency room visits of sickle cell patients. We adopted a case-crossover design. Daily counts of children's and adolescents' sickle cell disease emergency room visits from the pediatric emergency unit in São Paulo, Brazil, were evaluated from September 1999 to December 2004, matching by temperature, humidity and controlling for day of the...

  1. 1,25-dihydroxyvitamin D3 and dexamethasone increase interleukin-10 production in CD4+ T cells from patients with Crohn's disease

    DEFF Research Database (Denmark)

    Bartels, Lars Erik; Jørgensen, Søren Peter; Agnholt, Jørgen;

    2007-01-01

    BACKGROUND AND AIM: In Crohn's disease (CD), epidemiological data and animal studies suggest that vitamin D (vitD) has protective immune-modulating properties. 1,25-dihydroxyvitamin D3 and dexamethasone (DEX) induce interleukin (IL)-10 productions in healthy controls (HC) T cells. We studied if 1...

  2. Phase II study of a 3-day schedule with topotecan and cisplatin in patients with previously untreated small cell lung cancer and extensive disease

    DEFF Research Database (Denmark)

    Sorensen, M.; Lassen, U.; Jensen, Peter Buhl; Østerlind, Kell Erik; Jeppesen, Nina; Jensen, Britta Bjerregaard; Mellemgaard, Anders; Rytter, Carsten; Langer, Seppo Wang

    2008-01-01

    INTRODUCTION: Treatment with a topoisomerase I inhibitor in combination with a platinum results in superior or equal survival compared with etoposide-based treatment in extensive disease small cell lung cancer (SCLC). Five-day topotecan is inconvenient and therefore shorter schedules of topotecan...

  3. Mortality in patients with Parkinson's disease

    DEFF Research Database (Denmark)

    Wermuth, L; Stenager, E; Boldsen, J

    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...

  4. Effect of response quality and line of treatment with rituximab on overall and disease-free survival of patients with B-cell lymphoma:

    OpenAIRE

    Horvat, Mateja; Novakovic, Barbara Jezersek

    2010-01-01

    Background The introduction of rituximab into the treatment of patients with non-Hodgkin’s lymphomas has improved the overall response rate, as well as the response duration and the overall survival of patients with B-cell lymphomas. But only a few studies have addressed the question whether the better response (complete response) and the early introduction of rituximab into the treatment translate into the better survival. The aim of this retrospective study was to assess the potential relat...

  5. Evaluation of BCL6 and MUM1 Expression in Patients with Diffuse Large B Cell Lymphoma (DLBCL and Their Correlation with Staging and Prognosis of the Disease

    Directory of Open Access Journals (Sweden)

    Hossein Rahimi

    2015-01-01

    Patients with DLBCL have a rapidly growing mass that is located in the neck or abdominal region. Multiple Myeloma Oncogene (MUM1 has an important role in lymphoid cell differentiation. MUM1/IRF4 is as oncogene related to myeloma and translocation (p25; q32, t (6; 14 and leads to a change in the heavy chain of Immunoglobulin (IGH. BCL6 exists in approximately (100% of follicular cell cancer cases, (100% of Burkitt lymphoma, (80% of large B-cell lymphoma, and in more than (80% of nodular lymphocytic Hodgkin lymphoma cases. BCL6 is related to cancers with a high proliferation cell index. In some studies BCL6 is expressed as a prognostic factor in LBCL patients

  6. LEG ULCERS IN SICKLE CELL DISEASE: CURRENT PATTERNS AND PRACTICES

    OpenAIRE

    Delaney, Kara-Marie H.; Axelrod, Karen C.; Buscetta, Ashley; Hassell, Kathryn L.; Adams-Graves, Patricia E.; Seamon, Catherine; Kato, Gregory J.; Minniti, Caterina P.

    2013-01-01

    Leg ulcers are a debilitating complication of patients with sickle cell disease, and their frequency in North America was reported to be 2.5% by the Cooperative Study of Sickle Cell Disease more than 20 years ago. We sought to determine if the frequency of leg ulcers in sickle cell patients in the United States had declined and to assess which treatments providers use most commonly. We sent an e-mail survey to health professionals belonging to the national Sickle Cell Adult Provider Network. ...

  7. A Single Nucleotide Polymorphism in the Stromal Cell-Derived Factor 1 Gene Is Associated with Coronary Heart Disease in Chinese Patients

    Directory of Open Access Journals (Sweden)

    Lei Feng

    2014-06-01

    Full Text Available Coronary heart disease (CHD is highly prevalent globally and a major cause of mortality. Genetic predisposition is a non-modifiable risk factor associated with CHD. Eighty-four Chinese patients with CHD and 253 healthy Chinese controls without CHD were recruited. Major clinical data were collected, and a single nucleotide polymorphism (SNP in the stromal cell-derived factor 1 (SDF-1 gene at position 801 (G to A, rs1801157 in the 3'-untranslated region was identified. The correlation between rs1801157 genotypes and CHD was evaluated by a multivariate logistic regression analysis. The allele frequency in the CHD and control groups was in Hardy-Weinberg equilibrium (HWE (p > 0.05. The frequency of the GG genotype in the CHD group (59.5% was significantly higher than that in the control group (49.8% (p = 0.036. A number of variables, including male sex, age, presence of hypertension, and the levels of low-density lipoprotein cholesterol (LDL-C, high-density lipoprotein cholesterol (HDL-C, triglycerides (TG, uric acid, and total bilirubin, were associated with CHD in a primary univariate analysis. In a multivariable logistic regression analysis, the GG genotype (GG:AA, odds ratio (OR = 2.31, 95% confidence interval (CI = 1.21–5.23, male sex, advanced age (≥60 years, presence of hypertension, LDL-C level ≥ 3.33 mg/dL, HDL-C level < 1.03 mg/dL, and TG level ≥ 1.7 mg/dL were independent risk factors for CHD.

  8. Heart disease in patients with osteogenesis imperfecta

    DEFF Research Database (Denmark)

    Ashournia, Hamoun; Johansen, Frank Ted; Folkestad, Lars;

    2015-01-01

    described, less is known about the effects of decreased collagen on other organs. In the heart, collagen type 1 is present in the heart valves, chordae tendineae, annuli fibrosi and the interventricular septum. It is thus likely that the heart is affected in OI. OBJECTIVES: The aim of this systematic...... commonly reported heart diseases amongst the patients with OI were valvulopathies and increased aortic diameter. Findings in the large case series and the cross-sectional studies were broadly similar to each other. CONCLUSION: The findings support the hypothesis that patients with OI have increased risk of...... heart disease compared to healthy controls. It is biologically plausible that patients with OI may have an increased risk of developing heart disease, and valve disease in particular....

  9. Caval variations in neurologically diseased patients

    International Nuclear Information System (INIS)

    The import of the cavum variation and its prevalence rate in healthy individuals is still not clear, likewise in neurologically diseased patients. To evaluate the frequency and pattern of caval variations in neurologically diseased patients. The presence or absence of the cavum septum pellucidum (CSP), cavum vergae (CV), or cavum velum interpositum (CVI) was reviewed from successive cranial computerized tomography (CT) images of patients who were aged 6 months and above. Two hundred and seventeen cranial CT images were reviewed. At least a cavum variation was noted in 130 (59.9%) of the CT scan images reviewed. The CV, CVI, and CSP were noted in 86 (39.6%), 53 (24.4%), and 50 images (23%), respectively. Caval multiplicity was noted in 102 patients (47%). There was no significant difference in the rate of occurrence of cavum variations in patients with congenital brain diseases and acquired brain conditions (P = 0.484), neither was there a significant difference in the frequency of cavum variation in children aged older than 6 months compared to adults (P = 0.101). Cava variations are relatively common in neurological brain diseases. Patients with congenital brain diseases did not have a higher frequency of cava variation when compared with those that had acquired lesions. The most common type of cavum variation noted in this study was the vergae variety, while the CSP is the rarest

  10. CNS infections in patients with hematological disorders (including allogeneic stem-cell transplantation)-Guidelines of the Infectious Diseases Working Party (AGIHO) of the German Society of Hematology and Medical Oncology (DGHO).

    Science.gov (United States)

    Schmidt-Hieber, M; Silling, G; Schalk, E; Heinz, W; Panse, J; Penack, O; Christopeit, M; Buchheidt, D; Meyding-Lamadé, U; Hähnel, S; Wolf, H H; Ruhnke, M; Schwartz, S; Maschmeyer, G

    2016-07-01

    Infections of the central nervous system (CNS) are infrequently diagnosed in immunocompetent patients, but they do occur in a significant proportion of patients with hematological disorders. In particular, patients undergoing allogeneic hematopoietic stem-cell transplantation carry a high risk for CNS infections of up to 15%. Fungi and Toxoplasma gondii are the predominant causative agents. The diagnosis of CNS infections is based on neuroimaging, cerebrospinal fluid examination and biopsy of suspicious lesions in selected patients. However, identification of CNS infections in immunocompromised patients could represent a major challenge since metabolic disturbances, side-effects of antineoplastic or immunosuppressive drugs and CNS involvement of the underlying hematological disorder may mimic symptoms of a CNS infection. The prognosis of CNS infections is generally poor in these patients, albeit the introduction of novel substances (e.g. voriconazole) has improved the outcome in distinct patient subgroups. This guideline has been developed by the Infectious Diseases Working Party (AGIHO) of the German Society of Hematology and Medical Oncology (DGHO) with the contribution of a panel of 14 experts certified in internal medicine, hematology/oncology, infectious diseases, intensive care, neurology and neuroradiology. Grades of recommendation and levels of evidence were categorized by using novel criteria, as recently published by the European Society of Clinical Microbiology and Infectious Diseases. PMID:27052648

  11. Spontaneous Intracranial Extradural Hematoma in Sickle Cell Disease

    OpenAIRE

    N'dri Oka, Dominique; Tokpa, André; Bah, Alpha; Derou, Louis

    2015-01-01

    Spontaneous extradural hematoma is rare in patients with sickle cell disease. We report a clinical case of a 19-year-old young man with sickle cell anemia who presented a sickle cell crisis complicated by the development of multiple acute extradural and subgaleal hematomas that had not been treated surgically. We discuss the physiopathology of this event. Although it is rare, clinicians should be aware of this phenomenon as part of a spectrum of neurologic complications in these patients.

  12. Cranial involvement in sickle cell disease

    International Nuclear Information System (INIS)

    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. 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.

  14. Genetic variants and disease-associated factors contribute to enhanced IRF-5 expression in blood cells of systemic lupus erythematosus patients

    Science.gov (United States)

    Feng, Di; Stone, Rivka C.; Program, MD/PhD; Eloranta, Maija-Leena; Sangster-Guity, Niquiche; Nordmark, Gunnel; Sigurdsson, Snaevar; Wang, Chuan; Alm, Gunnar; Syvänen, Ann-Christine; Rönnblom, Lars; Barnes, Betsy J.

    2010-01-01

    Objective Genetic variants of the interferon (IFN) regulatory factor 5 (IRF5) gene are associated with systemic lupus erythematosus (SLE) susceptibility. The contribution of these variants to IRF-5 expression in primary blood cells of SLE patients has not been addressed, nor has the role of type I IFN. The aim of this study was to determine the association between increased IRF-5 expression and the IRF5 risk haplotype in SLE patients. Methods IRF-5 transcript and protein levels in 44 Swedish patients with SLE and 16 healthy controls were measured by quantitative real-time PCR, minigene assay, and flow cytometry. The rs2004640, rs10954213, rs10488631 and the CGGGG indel were genotyped in these patients. Genotypes of these polymorphisms defined a common risk and protective haplotype. Results IRF-5 expression and alternative splicing were significantly upregulated in SLE patients versus healthy donors. Enhanced transcript and protein levels were associated with the risk haplotype of IRF5; rs10488631 gave the only significant independent association that correlated with increased transcription from non-coding exon 1C. Minigene experiments demonstrated an important role for rs2004640 and the CGGGG indel, along with type I IFNs in regulating IRF-5 expression. Conclusions This study provides the first formal proof that IRF-5 expression and alternative splicing are significantly upregulated in primary blood cells of SLE patients. The risk haplotype is associated with enhanced IRF-5 transcript and protein expression in SLE patients. PMID:20112383

  15. Severe proliferative retinopathy is associated with blood hyperviscosity in sickle cell hemoglobin-C disease but not in sickle cell anemia. : Sickle cell disease and retinopathy

    OpenAIRE

    Lemaire, Clément; Lamarre, Yann; Lemonne, Nathalie; Waltz, Xavier; Chahed, Sadri; Cabot, Florence; Botez, Ioana; Tressieres, Benoit; Lalanne-Mistrih, Marie-Laure; Etienne-Julan, Maryse; Connes, Philippe

    2012-01-01

    International audience Little is known about the impact of blood rheology on the occurrence of retinopathy in sickle cell disease (SCD). Fifty-nine adult SCD patients in steady-state condition participated to the study: 32 with homozygous SCD (sickle cell anemia; SCA) and 27 with sickle cell hemoglobin-C disease (SCC). The patients underwent retinal examination and were categorized according to the classification of Goldberg: 1) no retinopathy (group 1), 2) non-proliferative or proliferati...

  16. Sensitivity to mitomycin-C and radiation of cells derived from patients with familial colon polyposis: an autosomal dominant hereditary disease

    International Nuclear Information System (INIS)

    This study was undertaken to investigate the sensitivity to mitomycin-C (MMC) of skin fibroblasts derived from patients with adenomatosis coli (AC), especially familial colon polyposis. The sensitivity to X rays and ultraviolet rays of AC cells cultured at RERF was similar to that of normal human diploid cells. However, there were large individual differences in sensitivity to MMC. DNA elongation in cells sensitive to MMC was found to be inhibited after MMC treatment. Sites highly sensitive to MMC were considered to be involved in the initial stages of DNA synthesis. (author)

  17. 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.

  18. 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

  19. OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.

    Science.gov (United States)

    Montjean, Rodrick; Aoidi, Rifdat; Desbois, Pierrette; Rucci, Julien; Trichet, Michaël; Salomon, Rémi; Rendu, John; Fauré, Julien; Lunardi, Joël; Gacon, Gérard; Billuart, Pierre; Dorseuil, Olivier

    2015-02-15

    OCRL mutations are associated with both Lowe syndrome and Dent-2 disease, two rare X-linked conditions. Lowe syndrome is an oculo-cerebro-renal disorder, whereas Dent-2 patients mainly present renal proximal tubulopathy. Loss of OCRL-1, a phosphoinositide-5-phosphatase, leads in Lowe patients' fibroblasts to phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2) accumulation, with defects in F-actin network, α-actinin distribution and ciliogenesis, whereas fibroblasts of Dent-2 patients are still uncharacterized. To search for mechanisms linked to clinical variability observed between these two OCRL mutation-associated pathologies, we compared dermal fibroblasts from independent patients, four affected by Dent-2 disease and six with Lowe syndrome. For the first time, we describe that Dent-2 fibroblasts with OCRL loss-of-function (LOF) mutations exhibit decrease in actin stress fibers, appearance of punctate α-actinin signals and alteration in primary cilia formation. Interestingly, we quantified these phenotypes as clearly intermediate between Lowe and control fibroblasts, thus suggesting that levels of these defects correlate with clinical variations observed between patients with OCRL mutations. In addition, we show that Lowe and Dent-2 fibroblasts display similar PI(4,5)P2 accumulation levels. Finally, we analyzed INPP5B, a paralogous gene already reported to exhibit functional redundancy with OCRL, and report neither differences in its expression at RNA or protein levels, nor specific allelic variations between fibroblasts of patients. Altogether, we describe here differential phenotypes between fibroblasts from Lowe and Dent-2 patients, both associated with OCRL LOF mutations, we exclude direct roles of PI(4,5)P2 and INPP5B in this phenotypic variability and we underline potential key alterations leading to ocular and neurological clinical features in Lowe syndrome. PMID:25305077

  20. Clear Cell Chondrosarcoma in Association With Niemann-Pick Disease

    Directory of Open Access Journals (Sweden)

    K. N. Srikanth

    2005-01-01

    Full Text Available Purpose: The purpose of this case report is to bring to light this unusual combination of two rare diseases, namely Neimann-Pick disease Type B and clear cell chondrosarcoma occurring in the same patient. This has not previously been reported in the world literature.

  1. Beclomethasone Dipropionate in Preventing Acute Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer

    Science.gov (United States)

    2015-03-05

    Hematopoietic/Lymphoid Cancer; Accelerated Phase Chronic Myelogenous Leukemia; Adult Acute Lymphoblastic Leukemia in Remission; Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Atypical Chronic Myeloid Leukemia; Blastic Phase Chronic Myelogenous Leukemia; Childhood Acute Lymphoblastic Leukemia in Remission; Childhood Acute Myeloid Leukemia in Remission; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Eosinophilic Leukemia; Chronic Myelomonocytic Leukemia; Chronic Neutrophilic Leukemia; Chronic Phase Chronic Myelogenous Leukemia; Contiguous Stage II Adult Burkitt Lymphoma; Contiguous Stage II Adult Diffuse Large Cell Lymphoma; Contiguous Stage II Adult Diffuse Mixed Cell Lymphoma; Contiguous Stage II Adult Diffuse Small Cleaved Cell Lymphoma; Contiguous Stage II Adult Immunoblastic Large Cell Lymphoma; Contiguous Stage II Adult Lymphoblastic Lymphoma; Contiguous Stage II Grade 1 Follicular Lymphoma; Contiguous Stage II Grade 2 Follicular Lymphoma; Contiguous Stage II Grade 3 Follicular Lymphoma; Contiguous Stage II Mantle Cell Lymphoma; Contiguous Stage II Marginal Zone Lymphoma; Contiguous Stage II Small Lymphocytic Lymphoma; de Novo Myelodysplastic Syndromes; Essential Thrombocythemia; Extramedullary Plasmacytoma; Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue; Graft Versus Host Disease; Isolated Plasmacytoma of Bone; Juvenile Myelomonocytic Leukemia; Meningeal Chronic Myelogenous Leukemia; Myelodysplastic/Myeloproliferative Disease, Unclassifiable; Nodal Marginal Zone B-cell Lymphoma; Noncontiguous Stage II Adult Burkitt Lymphoma; Noncontiguous Stage II Adult Diffuse Large Cell Lymphoma; Noncontiguous Stage II Adult Diffuse Small

  2. Impact of treatment with bevacizumab beyond disease progression: a randomized phase II study of docetaxel with or without bevacizumab after platinum-based chemotherapy plus bevacizumab in patients with advanced nonsquamous non–small cell lung cancer (WJOG 5910L)

    International Nuclear Information System (INIS)

    Bevacizumab, a humanized antibody to vascular endothelial growth factor (VEGF), shows clinical activity against human cancer, with its addition to standard chemotherapy having been found to improve outcome in patients with advanced nonsquamous non–small cell lung cancer (NSCLC). However, there have been no evidence-based studies to support the continued use of bevacizumab beyond disease progression in such patients treated with the drug in first-line therapy. We have now designed a randomized phase II trial to examine the clinical benefit and safety of continued bevacizumab treatment in patients with advanced nonsquamous NSCLC whose disease has progressed after first-line treatment with bevacizumab plus a platinum-based doublet. WJOG 5910L was designed as a multicenter, open-label, randomized, phase II trial by the West Japan Oncology Group of docetaxel (arm A) versus docetaxel plus bevacizumab (arm B) in patients with recurrent or metatstatic nonsquamous NSCLC whose disease has progressed after first-line treatment with bevacizumab plus a platinum-based doublet. Patients in arm A will receive docetaxel at 60 mg/m2 and those in arm B will receive docetaxel at 60 mg/m2 plus bevacizumab at 15 mg/kg, with each drug administered on day 1 every 21 days until progression or unacceptable toxicity. The primary endpoint of the study is progression-free survival, with secondary endpoints including response rate, overall survival, and safety, for patients treated in either arm. UMIN (University Hospital Medical Information Network in Japan) 000004715

  3. Interstitial Lung Disease in a Patient with Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Mozhgan Moghtaderi

    2012-03-01

    Full Text Available Background: Chronic granulomatous disease (CGD is an inherited phagocytes defect, characterized by defects of NADPH-oxidase and inability of bacterial killing, which leads to recurrent life-threatening infections. Respiratory problems, which are the major cause of morbidity in CGD, usually result from recurrent severe infections; however, vigorous inflammatory response could also cause respiratory diseases.Case Presentation: Herein, an 11 year-old patient with CGD is presented who suffered from chronic cough and dyspnea for 7 years. Considering the results of chest X-ray, high-resolution computed tomography, and pulmonary function test, the diagnosis of interstitial lung disease was made.Conclusion: Early recognition of manifestations associated with CGD and appropriate treatment could prevent further complications and reduce morbidity and mortality in this group of patients.

  4. 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.

  5. Cardiovascular disease in patients with rheumatoid arthritis

    DEFF Research Database (Denmark)

    Naranjo, Antonio; Sokka, Tuulikki; Descalzo, Miguel;

    2008-01-01

    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...... by patients. The clinical assessment included a review of clinical features of RA and exposure to DMARDs over the course of RA. Comorbidities were recorded; CV morbidity included myocardial infarction, angina, coronary disease, coronary bypass surgery, and stroke. Traditional risk factors recorded were...... any CV event and age and male gender and between extra-articular disease and myocardial infarction. Prolonged exposure to methotrexate (HR 0.85; 95% CI 0.81 to 0.89), leflunomide (HR 0.59; 95% CI 0.43 to 0.79), sulfasalazine (HR 0.92; 95% CI 0.87 to 0.98), glucocorticoids (HR 0.95; 95% CI 0.92 to 0...

  6. The Mitochondrial DNA Northeast Asia CZD Haplogroup Is Associated with Good Disease-Free Survival among Male Oral Squamous Cell Carcinoma Patients

    OpenAIRE

    Lai, Chih-Hsiung; Huang, Shiang-Fu; Chen, I-How; Liao, Chun-Ta; Wang, Hung-Ming; Hsieh, Ling-Ling

    2012-01-01

    Reprogramming of energy metabolism in cancer cells has been directly/indirectly linked to mitochondria and mitochondrial functional defects and these changes seem to contribute to the development and progression of cancer. Studies have indicated that mitochondrial DNA haplogroups are associated with risk in relation to various diseases including cancer. However, few studies have examined the effect of haplogroups on cancer prognosis outcome. In order to explore the role of haplogroups on oral...

  7. Protracted results of dose-intensive therapy using cyclophosphamide, carmustine, and continuous infusion etoposide with autologous stem cell support in patients with relapse or refractory Hodgkin's disease: a phase II study from the North American Marrow Transplant Group.

    Science.gov (United States)

    Fleming, D R; Wolff, S N; Fay, J W; Brown, R A; Lynch, J P; Bolwell, B J; Stevens, D A; Goodman, S A; Greer, J P; Stein, R S; Pineiro, L A; Collins, R H; Goldsmith, L J; Herzig, G P; Herzig, R H

    1999-09-01

    To determine the long-term results of high-dose chemotherapy and stem cell support in relapsed or primary refractory Hodgkin disease patients. One hundred and thirty-one patients with relapsed or primary refractory Hodgkin's disease were treated with a dose-intensive therapy protocol consisting of etoposide (2400 mg/m2 continuous intravenous infusion) cyclophosphamide (7200 mg/m2 intravenously), and carmustine (300-600 mg/m2 intravenously) CBVi. All patients had previously failed conventional chemoradiotherapy. Severe toxicities were related to infectious, hepatic, and pulmonary complications. Fatal, regimen-related toxicity was 19%; liver and lung dysfunction, as well as infection, were the most frequent problems. Ninety-one (69%) of the patients achieved a complete response (CR) (95% CI = 59% to 75%) after CBVi and autologous stem cell infusion. With a median follow-up of 5.1 years (range 3.0 to 9.5 years), overall and event-free survival are 44% (95% CI = 33% to 47%) and 38% (95% CI = 28% to 46%) respectively. While univariate analysis did not reveal a statistically significant variable to predict a better response, responsiveness to therapy demonstrated a trend. We conclude that CBVi is an effective therapy for relapsed or refractory Hodgkin's disease, producing long-term, durable remissions. PMID:10512166

  8. Successful Unrelated Cord Blood Stem Cell Transplantation in an X-linked Chronic Granulomatous Disease Patient with Disseminated BCG-induced Infection.

    Science.gov (United States)

    Lin, Chao-Jen; Wang, Shih-Chung; Ku, Cheng-Lung; Kao, Jun-Kai; Chen, Ming; Liu, Chin-San

    2015-10-01

    A 19-month-old boy with chronic granulomatous disease (CGD) received umbilical cord blood transplantation (UCBT) from an unrelated donor after experiencing a life-threatening disseminated Bacillus Calmette-Guérin infection. After busulfan and cyclophosphamide conditioning, we performed a 5/6-matched UCBT. Engraftment and mixed chimerism was 100% in peripheral blood, and 100% of his neutrophils had normal oxidative burst activity on day 17. The patient is now 3 years old, free from infection, and growing well. To our knowledge, this is the second case of CGD treated with UCBT in Taiwan. His successful outcome illustrates that UCBT in a patient with CGD should be considered early if a human leukocyte antigen-matched donor is not available or the patient has just recovered from a severe infection. PMID:23680261

  9. Changing demographics in patients with vascular disease.

    Science.gov (United States)

    Kwolek, Christopher J; Clagett, G Patrick

    2009-02-01

    The United States population with vascular disease has changed dramatically during the past 2 decades, with large increases in the proportion of Hispanic, African American, and other minority patients. Not only has the number of these patients increased, but the types and distribution of vascular disease in minority populations is also different from that encountered in non-Hispanic whites. Although genetic makeup accounts for some of these differences, access to vascular care is also an important determinant, with many minority patients presenting late in the course of the disease process. These factors create significant challenges for the vascular specialists caring for these patients. The vascular surgery workforce is composed of >90% white men and does not currently represent the changes in the population of patients with vascular disease. In addition, women with vascular disease comprise up to 50% of many vascular surgery practices. In many parts of the country, Hispanics and African Americans outnumber non-Hispanic whites with vascular disease. Yet, women and minority physicians are still significantly under-represented in the field of vascular surgery. This year's E. Stanley Crawford Critical Issues Forum at the Society for Vascular Surgery meeting addressed the disconnect between the vascular surgery workforce and the patients whom we serve. This article reviews the projected demographic changes in the population of the United States, which supports the need for training a vascular surgery workforce that is more diverse. This article also reviews the current status of minority and female representation in medical schools, surgical training programs, and vascular surgery programs in the United States. PMID:19216973

  10. Analgesia for patients with advanced disease: I

    OpenAIRE

    Hall, E.; Sykes, N

    2004-01-01

    This series of two articles explores the challenge of managing pain in patients with advanced malignant and non-malignant disease. Pain is a common symptom in advanced disease. Despite guidance from organisations such as the World Health Organisation, cancer pain is often inadequately managed. Managing pain in non-malignant conditions, such as end stage cardiac failure, presents an even greater challenge to healthcare professionals. This first article discusses epidemiology, definitions, path...

  11. Endothelial progenitor cells with Alzheimer's disease

    Institute of Scientific and Technical Information of China (English)

    KONG Xiao-dong; ZHANG Yun; LIU Li; SUN Ning; ZHANG Ming-yi; ZHANG Jian-ning

    2011-01-01

    Background Endothelial dysfunction is thought to be critical events in the pathogenesis of Alzheimer's disease (AD).Endothelial progenitor cells (EPCs) have provided insight into maintaining and repairing endothelial function. To study the relation between EPCs and AD, we explored the number of circulating EPCs in patients with AD.Methods A total of 104 patients were recruited from both the outpatients and inpatients of the geriatric neurology department at General Hospital, rianjin Medical University. Consecutive patients with newly diagnosed AD (n=30),patients with vascular dementia (VaD, n=34), and healthy elderly control subjects with normal cognition (n=40) were enrolled after matching for age, gender, body mass index, medical history, current medication and Mini Mental State Examination. Middle cerebral artery flow velocity was examined with transcranial Doppler. Endothelial function was evaluated according to the level of EPCs, and peripheral blood EPCs was counted by flow cytometry.Results There were no significant statistical differences of clinical data in AD, VaD and control groups (P >0.05). The patients with AD showed decreased CD34-positive (CD34+) or CD133-positive (CD133+) levels compared to the control subjects, but there were no significant statistical differences in patients with AD. The patients with AD had significantly lower CD34+CD133+ EPCs(CD34 and CD133 double positive endothelial progenitor cells) than the control subjects (P <0.05). In the patients with AD, a lower CD34+CD133+ EPCs count was independently associated with a lower Mini-Mental State Examination score (r=0.514, P=0.004). Patients with VaD also showed a significant decrease in CD34+CD133+ EPCs levels, but this was not evidently associated with the Mini-Mental State Examination score. The changes of middle cerebral artery flow velocity were similar between AD and VaD. Middle cerebral artery flow velocity was decreased in the AD and VaD groups and significantly lower than

  12. Stem cells and respiratory diseases

    Directory of Open Access Journals (Sweden)

    Soraia Carvalho Abreu

    2008-12-01

    Full Text Available Stem cells have a multitude of clinical implications in the lung. This article is a critical review that includes clinical and experimental studies of MedLine and SciElo database in the last 10 years, where we highlight the effects of stem cell therapy in acute respiratory distress syndrome or more chronic disorders such as lung fibrosis and emphysema. Although, many studies have shown the beneficial effects of stem cells in lung development, repair and remodeling; some important questions need to be answered to better understand the mechanisms that control cell division and differentiation, therefore enabling the use of cell therapy in human respiratory diseases.As células-tronco têm uma infinidade de implicações clínicas no pulmão. Este artigo é uma revisão crítica que inclui estudos clínicos e experimentais advindos do banco de dados do MEDLINE e SciElo nos últimos 10 anos, onde foram destacados os efeitos da terapia celular na síndrome do desconforto respiratório agudo ou doenças mais crônicas, como fibrose pulmonar e enfisema. Apesar de muitos estudos demonstrarem os efeitos benéficos das células-tronco no desenvolvimento, reparo e remodelamento pulmonar; algumas questões ainda precisam ser respondidas para um melhor entendimento dos mecanismos que controlam a divisão celular e diferenciação, permitindo o uso da terapia celular nas doenças respiratórias.

  13. Inflammatory mechanisms in patients with chronic obstructive pulmonary disease.

    Science.gov (United States)

    Barnes, Peter J

    2016-07-01

    Chronic obstructive pulmonary disease (COPD) is associated with chronic inflammation affecting predominantly the lung parenchyma and peripheral airways that results in largely irreversible and progressive airflow limitation. This inflammation is characterized by increased numbers of alveolar macrophages, neutrophils, T lymphocytes (predominantly TC1, TH1, and TH17 cells), and innate lymphoid cells recruited from the circulation. These cells and structural cells, including epithelial and endothelial cells and fibroblasts, secrete a variety of proinflammatory mediators, including cytokines, chemokines, growth factors, and lipid mediators. Although most patients with COPD have a predominantly neutrophilic inflammation, some have an increase in eosinophil counts, which might be orchestrated by TH2 cells and type 2 innate lymphoid cells though release of IL-33 from epithelial cells. These patients might be more responsive to corticosteroids and bronchodilators. Oxidative stress plays a key role in driving COPD-related inflammation, even in ex-smokers, and might result in activation of the proinflammatory transcription factor nuclear factor κB (NF-κB), impaired antiprotease defenses, DNA damage, cellular senescence, autoantibody generation, and corticosteroid resistance though inactivation of histone deacetylase 2. Systemic inflammation is also found in patients with COPD and can worsen comorbidities, such as cardiovascular diseases, diabetes, and osteoporosis. Accelerated aging in the lungs of patients with COPD can also generate inflammatory protein release from senescent cells in the lung. In the future, it will be important to recognize phenotypes of patients with optimal responses to more specific therapies, and development of biomarkers that identify the therapeutic phenotypes will be important. PMID:27373322

  14. Changes and effects of helper T cells and their effector molecules on disease aggravation in patients with chronic hepatitis B. MO Ruidong

    Institute of Scientific and Technical Information of China (English)

    莫瑞东

    2014-01-01

    Objective To investigate the role of helper T cell(Th)1,Th17 and Th22 and their effector molecules including interferon-gamma,interleukin(IL)-17 and IL-22in active phase of chronic hepatitis B(CHB)and acuteon-chronic liver failure(ACLF).Methods Forty-five CHB patients and 38 ACLF patients at Ruijin Hospital of Shanghai Jiaotong University School of Medicine were included,and 26 healthy controls(HC)were also enrolled.Fresh heparinized peripheral blood was obtained

  15. Ecosapentanoic acid (EPA) does not affect cell kinetics in peripheral lymphocites from patients with Crohn's disease (CD) according to IL6 174G/C polymorphism

    OpenAIRE

    Brito, Miguel; Ferreira, Paula; Guerreiro, Catarina Sousa; Malta-Vacas, Joana; Tavares, L.; Santos, P.; Pinto, A.; Cravo, Marília

    2008-01-01

    Rationale: Omega 3 fatty acids have been shown to be of potential benefit in patients with CD. The aim of the present study was to evaluate whether EPA can modulate the inflammatory response according to different genotypes of IL6G174G/C polymorphism. Methods: Peripheral blood cells were collected from CD patients with different genotypes for IL6 174G/C (GG, n = 16, GC, n = 8, CC, n = 7), and lymphocytes were established in culture media. Replicates with the addition of EPA (25 mM) were an...

  16. Peripheral blood derived cells and angiogenesis in cardiovascular disease

    OpenAIRE

    Post, S

    2009-01-01

    Patients suffering from myocardial infarction (MI), atherosclerosis and Hereditary Hemorrhagic Telangiectasia type 1 (HHT-1) all have diseased and dysfunctional blood vessels. Cardiovascular repair in these diseases occurs not only locally, but also peripheral blood (progenitor) cells and cytokines/growth factors positively contribute to repair of malfunctioning tissue. In this thesis several aspects of cardiovascular repair have been explored. First, we show that in MI patients relatively la...

  17. Dysphagia in patients with cerebrovascular disease. Update.

    OpenAIRE

    Amarilis Barbié Rubiera; Ligia María Marcos Plasencia; Yolanda Aguilera Martínez

    2009-01-01

    An important number of patients with cerebrovascular disease also present dysphagia as a result of damage in cerebral hemispheres or brainstem, which contributes to negative morbility and functional rehabilitation prognosis due to the complications liked with this condition. It is a significant cause of nutritional dysfunctions, including increased in-hospital undernourishment, increased per patient expenditure and longer in-hospital stay. One of the objectives of the Nutritional Support Team...

  18. Infective endocarditis in patients with hepatic diseases.

    Science.gov (United States)

    Seminari, E; De Silvestri, A; Ravasio, V; Ludovisi, S; Utili, R; Petrosillo, N; Castelli, F; Bassetti, M; Barbaro, F; Grossi, P; Barzaghi, N; Rizzi, M; Minoli, L

    2016-02-01

    Few data have been published regarding the epidemiology and outcome of infective endocarditis (IE) in patients with chronic hepatic disease (CHD). A retrospective analysis of the Studio Endocarditi Italiano (SEI) database was performed to evaluate the epidemiology and outcome of CHD+ patients compared with CHD- patients. The diagnosis of IE was defined in accordance with the modified Duke criteria. Echocardiography, diagnosis, and treatment procedures were in accordance with current clinical practice. Among the 1722 observed episodes of IE, 300 (17.4 %) occurred in CHD+ patients. The cause of CHD mainly consisted of chronic viral infection. Staphylococcus aureus was the most common bacterial species in CHD+ patients; the frequency of other bacterial species (S. epidermidis, streptococci, and enterococci) were comparable among the two groups. The percentage of patients undergoing surgery for IE was 38.9 in CHD+ patients versus 43.7 in CHD- patients (p = 0.06). Complications were more common among CHD+ patients (77 % versus 65.3 %, p infection sustained by S. aureus, a prosthetic valve, diabetes and a neoplasia, and CHD. Being an intravenous drug user (IVDU) was a protective factor and was associated with a reduced death risk. CHD is a factor worsening the prognosis in patients with IE, in particular in patients for whom cardiac surgery was required. PMID:26690071

  19. Osteoporosis in patients with inflammatory bowel disease

    International Nuclear Information System (INIS)

    The prevalence of osteoporosis in inflammatory bowel disease (IBD) has not been accurately established. Using single photon absorptiometry (SPA) and vertebral quantitative computerized tomography (QCT) the authors measured bone mineral content (BMC) in 75 unselected patients with IBD. Osteoporosis was present in 23 (31%). Seven had cortical and trabecular osteoporosis, 11 cortical only and five trabecular only. Three amenorrhoeic premenopausal females had clinically severe osteoporosis and a further 4 had vertebral crush fractures. The median lifetime steroid dose in osteoporotic patients was significantly greater than in patients with normal BMC; most patients with osteoporosis had small bowel IBD with one or more resections. Repeat QCT measurements in 18 patients after one year were unchanged in 12, increased in one and decreased between 10 and 37 mg/ml K2HPO4 in 5 of whom four were receiving steroids. Radial BMC decreased in one patient, increased in one and was unchanged in the remainder. Thus, osteoporosis was present in 30% of these patients, with severe clinical disease in three young females. Rapid spinal trabecular bone loss was demonstrated over the course of one year in some patients. Steroid therapy, amenorrhoe and small bowel IBD with resection appear to be important risk factors

  20. Tc17 Cells in Patients with Uterine Cervical Cancer

    OpenAIRE

    Yan Zhang; Fei Hou; Xin Liu; Daoxin Ma; Youzhong Zhang; Beihua Kong; Baoxia Cui

    2014-01-01

    BACKGROUND: The existence of Tc17 cells was recently shown in several types of infectious and autoimmune diseases, but their distribution and functions in uterine cervical cancer (UCC) have not been fully elucidated. METHODS: The frequency of Tc17 cells in peripheral blood samples obtained from UCC patients, cervical intraepithelial neoplasia (CIN) patients and healthy controls was determined by flow cytometry. Besides, the prevalence of Tc17 cells and their relationships to Th17 cells and Fo...

  1. Cell-mediated immune deficiency in Hodgkin's disease.

    Science.gov (United States)

    Kumar, R K; Penny, R

    1982-10-01

    Disturbances of the immune system frequently accompany the development of lymphomas in man. In the early stages of non-Hodgkin's lymphomas, abnormalities of immunological function are usually minimal, but impairment of both antibody- and cell-mediated immunity is often noted in advanced disease. In contrast, while antibody-mediated immune responses in patients with Hodgkin's disease usually remain intact until late in the course of the illness, cell-mediated immune dysfunction is an early and consistent feature. Here Rakesh Kumar and Ronald Penny discuss the abnormalities of cell-mediated immunity in Hodgkin's disease. PMID:25290229

  2. Parkinson's disease and Alzheimer's disease: hypersensitivity to X-rays in cultured cell lines

    International Nuclear Information System (INIS)

    Fibroblast and/or lymphoblastoid lines from patients with several inherited primary neuronal degenerations are hypersensitive to DNA-damaging agents. Therefore, lymphoblastoid lines were irradiated from patients with sporadic Parkinson's disease (PD), Alzheimer's disease, and amyotrophic lateral sclerosis. The mean survival values of the eight Parkinson's disease and of the six Alzheimer's disease lines, but not of the five amyotrophic lateral sclerosis lines, were less than that of the 28 normal lines. Our results with Parkinson's disease and Alzheimer's disease cells can be explained by a genetic defect arising as a somatic mutation during embryogenesis, causing defective repair of the X-ray type of DNA damage. Such a DNA repair defect could cause an abnormal accumulation of spontaneously occurring DNA damage in Parkinson's disease and Alzheimer's disease neurons in vivo, resulting in their premature death. (author)

  3. Major Artery Occlusion: a Rare Complication of Sickle Cell Disease

    OpenAIRE

    AGHA, Adnan; Al-Hakami, Mohammad; Shabbir, Ghulam

    2010-01-01

    Sickle cell disease is hereditary hemoglobinopathy which causes haemolytic anemia, vaso-occlusive crisis, ischemic injuries and many other morbidities like cerebral infarction. In this report, we describe a case of a young patient with sickle cell disease presenting with right-sided weakness and slurring of speech with examination confirming right-sided hemiparesis with motor aphasia. On further investigation, she was found to have frontotemporal infarction. On magnetic resonance imaging with...

  4. Major Artery Occlusion: a Rare Complication of Sickle Cell Disease

    OpenAIRE

    Adnan Agha

    2010-01-01

    Abstract: Sickle cell disease is hereditary hemoglobinopathy which causes haemolytic anemia, vaso-occlusive crisis, ischemic injuries and many other morbidities like cerebral infarction.  In this report, we describe a case of a young patient with sickle cell disease presenting with right-sided weakness and slurring of speech with examination confirming right-sided hemiparesis with motor aphasia. On further investigation, she was found to have frontotemporal infarction.  On magnetic resonance ...

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

    OpenAIRE

    Sanjeev Shyam Rao; Jagdish Prasad Goyal; SV Raghunath; Shah, Vijay B

    2012-01-01

    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 a...

  6. Clear Cell Chondrosarcoma in Association With Niemann-Pick Disease

    OpenAIRE

    Sumathi, V. P.; Grimer, R. J.; Davies, A. M.; Kulkarni, A.; Srikanth, K. N.

    2005-01-01

    Purpose: The purpose of this case report is to bring to light this unusual combination of two rare diseases, namely Neimann-Pick disease Type B and clear cell chondrosarcoma occurring in the same patient. This has not previously been reported in the world literature. Subject: Niemann-Pick disease (NPD) is a rare autosomal recessive inborn error of metabolism. Type B NPD is even rarer. It is a lysosomal storage disorder affecting children and adolescents often causing death in early childhood,...

  7. Self-reactive CD4+ T cells and B cells in the blood in health and autoimmune disease: increased frequency of thyroglobulin-reactive cells in Graves' disease

    DEFF Research Database (Denmark)

    Nielsen, Claus H; Moeller, Ane Christine; Hegedüs, Laszlo; Bendtzen, Klaus; Leslie, R Graham Q

    2006-01-01

    (+) T cells and B cells were found in patients with Graves' disease. Notably, both patient groups and healthy controls exhibited higher proliferative responses to thyroglobulin than to a foreign recall antigen, tetanus toxoid. Our results suggest that self-tolerance can be broken by exposure of...

  8. 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...

  9. Erlotinib-induced acute interstitial lung disease associated with extreme elevation of the plasma concentration in an elderly non-small-cell lung cancer patient

    Directory of Open Access Journals (Sweden)

    Yukari Tsubata

    2012-01-01

    Full Text Available We herein describe a case of drug-induced interstitial lung disease (ILD following treatment with erlotinib. The plasma trough concentration of erlotinib at the time of the ILD diagnosis was extremely elevated compared with the plasma maximum concentration on day 1. We hypothesized that this phenomenon was associated with the pharmacodynamic interaction with a concomitant drug. The present case indicates that erlotinib-induced ILD was associated with a high plasma concentration of erlotinib. Oncologists should be aware of the possibility of ILD induced by erlotinib, especially for patients with co-morbidities.

  10. The assessment of the prognostic value of tumor markers and cytokines as SCCAg, CYFRA 21.1, IL-6, VEGF and sTNF receptors in patients with squamous cell cervical cancer, particularly with early stage of the disease.

    Science.gov (United States)

    Kotowicz, Beata; Fuksiewicz, Malgorzata; Jonska-Gmyrek, Joanna; Bidzinski, Mariusz; Kowalska, Maria

    2016-01-01

    The aim of this study is to determine the prognostic value of tumor markers, as squamous cell carcinoma antigen (SCCAg) and cytokeratin-19 fragment (CYFRA 21.1) and interleukin 6 (IL-6), vascular endothelial growth factor (VEGF), soluble tumor necrosis factor receptor I (sTNF RI), and sTNF RII in patients with squamous cell carcinoma of the cervix. The subjects of analysis were 138 patients with stage I-IVA according to the International Federation of Gynecology and Obstetrics (FIGO) classification. The collected research material comes from one oncology center. During the 10 years of follow-up, 56 relapses and 53 deaths were observed, and recurrent disease in early stage was confirmed in 45 % of patients. The pretreatment serum levels of SCCAg and CYFRA 21.1, and cytokines IL-6, VEGF, sTNF RI, and sTNF RII were determined in all patients. The probability of disease-free survival (DFS) and overall survival (OS) was evaluated using the log-rank test and the Cox regression model. Based on the ROC curve analysis for patients with recurrence, the largest area under the curve was demonstrated for SCCAg and IL-6 and for patients who died, for SCCAg and VEGF. Cox analysis demonstrated that independent prognostic factor for DFS was only SCCAg and for OS cytokine IL-6 and SCCAg, but in patients with early stage the prognostic value for DFS was VEGF, whereas IL-6 and CYFRA 21.1 for OS. Serum level of VEGF, CYFRA 21.1 and IL-6 before treatment in patients with early stage cervical cancer appears to be an important prognostic factor. PMID:26289850

  11. Expression and function of toll-like receptor 8 and Tollip in colonic epithelial cells from patients with inflammatory bowel disease

    DEFF Research Database (Denmark)

    Steenholdt, Casper; Andresen, Lars; Pedersen, Gitte;

    2009-01-01

    controls. TLR-8 proteins resided on the luminal surface membrane and in intracellular organelles. Tollip was not increased in CEC from IBD patients. CEC from normal mucosa responded to TLR-8 stimulation by secreting IL-8. TLR-8 was expressed only on the mRNA level in LPMNC with no differences between IBD...... secretion was measured by ELISA after stimulation with TLR-8 ligand. RESULTS: TLR-8 mRNA and protein expression were substantially up-regulated in CEC from inflamed mucosa from patients with ulcerative colitis (approximately 350-fold, p<0.01) and Crohn's disease (approximately 45-fold, p<0.05) compared to....... However, the role of TLR-8 in IBD is currently unknown, and therefore we investigated the expression of TLR-8 and its natural antagonist, Tollip, in normal and inflamed human gut, and examined whether the receptor is functionally active. METHODS: TLR-8 and Tollip mRNA expression were measured in colonic...

  12. What Are the Signs and Symptoms of Sickle Cell Disease?

    Science.gov (United States)

    ... sickle cell disease, go to the Health Topics Sickle Cell Anemia article. Living With and Managing Sickle Cell Disease ( ... the most severe form of sickle cell disease, sickle cell anemia, Tiffany has lived with the symptoms and complications ...

  13. Dental treatment in patients with cardiovascular disease

    Directory of Open Access Journals (Sweden)

    Cleonice da Silveira TEIXEIRA

    2008-04-01

    Full Text Available Introduction: The correct evaluation of patients with cardiovasculardisease is based on a careful anamnesis and on the previous knowledgeof the main coronary diseases and its sequels. Objective: This articlerevised the concepts and characteristics of diverse heart illnesses asthe ischemic cardiopathy, chest angina, congestive cardiac insufficiency,arrhythmia and bradycardia. Literature review and conclusion:Complications like myocardium infarct and bacterial endocarditis were described focusing the dental clinical procedures. The handling of this information is important during the determination of the cardiac risk of each patient, classifying as high, moderate, or minimum risk. Dental professionals must plan the clinical appointments according to pre-established patient’s risk. Short duration appointments and the limitation of the stress and anxiety levels with the use of anti-anxiolytic medicines and complementary sedation can be important for a transoperative and postoperative without complications. The urgent procedures that occurred during the clinical trial in patients with coronary disease were also discussed.

  14. Stem cell transplantation for treating Parkinson's disease

    OpenAIRE

    Li, Runhui

    2012-01-01

    OBJECTIVE: To identify global research trends of stem cell transplantation for treating Parkinson's disease using a bibliometric analysis of the Web of Science. DATA RETRIEVAL: We performed a bibliometric analysis of data retrievals for stem cell transplantation for treating Parkinson's disease from 2002 to 2011 using the Web of Science. SELECTION CRITERIA: Inclusion criteria: (a) peer-reviewed articles on stem cell transplantation for treating Parkinson's disease which were published and ind...

  15. Chromosomal radiosensitivity of lymphocytes from Alzheimer's disease patients

    International Nuclear Information System (INIS)

    We have examined chromosome aberrations in γ irradiated (3 Gy) lymphocytes from five patients with Alzheimer's disease (AD). In each case, the number of dicentrics was significantly higher than the number in irradiated lymphocytes from five age matched normal subjects, the mean value for AD cells being about 25% higher. There was no significant difference in number of acentrics between AD and normal cells. Examination of the number of first, second, and third division metaphases, using fluorescence plus Giemsa staining, indicated that there was no difference in cycling time between AD and normal cells, and that after irradiation both groups showed the same mitotic delay. The similarity of our findings to those of others with irradiated Down's syndrome cells (from adult patients) is discussed. (author)

  16. Early assessment by FDG-PET/CT of patients with advanced renal cell carcinoma treated with tyrosine kinase inhibitors is predictive of disease course

    International Nuclear Information System (INIS)

    We reported previously that 18F-2-fluoro-2-deoxyglucose positron emission tomography/ computed tomography (FDG PET/CT) had potential for evaluating early response to treatment by tyrosine kinase inhibitors (TKIs) in advanced renal cell carcinoma (RCC). This time we investigated the relation of the early assessment by FDG PET/CT to long-term prognosis with an expanded number of patients and period of observation. Patients for whom TKI treatment for advanced RCC was planned were enrolled. FDG PET/CT was performed before TKI treatment and after one month of TKI treatment. The relations of the FDGPET/CT assessment to progression free survival (PFS) and overall survival (OS) were investigated. Thirty-five patients were enrolled (sunitinib 19 cases, sorafenib 16 cases). The patients with RCC showing high SUVmax in pretreatment FDG PET/CT demonstrated short PFS (P =0.024, hazard ratio 1.137, 95% CI 1.017-1.271) and short OS (P =0.004, hazard ratio 1.210 95% CI 1.062-1.379). Thirty patients (sunitinib 16 cases, sorafenib 14 cases) were evaluated again after 1 month. The PFS of the patients whose SUVmax decreased<20% was shorter than that of the patients whose SUVmax decreased<20% (P = 0.027, hazard ratio 3.043, 95% CI 1.134-8.167). The PFS of patients whose tumor diameter sum increased was shorter than that of the patient with tumors whose diameter sum did not (P =0.006, hazard ratio 4.555, 95% CI 1.543-13.448). The patients were classified into three response groups: good responder (diameter sum did not increase, and SUVmax decreased ≥ 20%), intermediate responder (diameter sum did not increase, and SUVmax decreased<20%), and poor responder (diameter sum increased, or one or more new lesions appeared). The median PFS of good, intermediate, and poor responders were 458 ± 146 days, 131 ± 9 days, and 88 ± 26 days (good vs. intermediate P = 0.0366, intermediate vs. poor P = 0.0097, log-rank test). Additionally the mean OSs were 999 ± 70 days, 469 ± 34 days, and 374

  17. Depression Among Sexually Transmitted Disease Patients

    Institute of Scientific and Technical Information of China (English)

    黄长征; 李碧芳; 涂亚庭; 刘志香; 林能兴

    2001-01-01

    Objective: To investigate the depression status of patients with sexually transmitted diseases (STDs).Methods: The depression status of fifty-one hospitalized STD patients was evaluated in a randomized control study using Zung's Quantitative Table. 18 healthy control patients with similar demographic backgrounds were randomly chosen as controls. Patients with scores above or equal to 40 were considered to be suffering from depression.Results: The prevalence rate of depression in the patient group was obviously higher than that of in the control (X2=16.456,P<0.01). Prevalence of depression was found to be significantly related to occupation (P<0.05). Though the prevalence was not found to differ significantly between those with a treatment course less than 2 months and those with one longer or equal to 2 months (X2=0.041, P>0.05), the mean depression scores of the former group were significantly higher than those of the latter (P<0.01). No significant differences were found between new versus relapsing disease, married versus non-married, male versus female, or differing educational backgrounds.Conclusion: STD patients showed significant prevalence of depression.

  18. In Patients with Coronary Artery Disease and Type 2 Diabetes, SIRT1 Expression in Circulating Mononuclear Cells Is Associated with Levels of Inflammatory Cytokines but Not with Coronary Lesions

    Directory of Open Access Journals (Sweden)

    Yuanmin Li

    2016-01-01

    Full Text Available While SIRT1 is significantly associated with atherosclerosis and diabetic complications, its relevance to coronary lesions in patients with coronary artery disease and type 2 diabetes has not been specifically investigated. Thus, we assessed SIRT1 expression in peripheral blood mononuclear cells in these patients. We found that SIRT1 expression did not significantly correlate with syntax scores from coronary angiography (p>0.05. Notably, plasma levels of the inflammatory cytokines tumor necrosis factor-α, monocyte chemoattractant protein-1, and high-sensitivity C-reactive protein were markedly higher in diabetic patients (p<0.05. In addition, SIRT1 expression was negatively correlated with levels of these cytokines, as well as that of interleukin-6 (p<0.05. In summary, the data indicate that SIRT1 expression in peripheral blood mononuclear cells is significantly correlated with inflammatory cytokines levels in patients with coronary artery disease and type 2 diabetes but not with the severity of coronary lesions.

  19. Bilateral orbital bone infarction in sickle-cell disease.

    Science.gov (United States)

    Ghafouri, Roya H; Lee, Irene; Freitag, Suzanne K; Pira, Tony N

    2011-01-01

    This is a case of a 2-year-old boy with sickle cell disease who presented with bilateral eyelid swelling, limited extraocular motility, and lateral subperiosteal fluid collection associated with bilateral lateral orbital wall infarctions on MRI. The patient was managed medically with intravenous fluids, analgesics, broad-spectrum antibiotics, systemic steroids, and clinically improved. Patients with sickle cell disease are susceptible to infarction of the orbital bones during vaso-occlusive crises. Orbital wall infarction can lead to acute proptosis and restricted extraocular motility. Orbital wall infarction should be considered in sickle cell patients with orbital diseases so that appropriate treatment can be instituted promptly to prevent the serious sequelae of orbital compression syndrome. PMID:20577135

  20. Genetics Home Reference: sickle cell disease

    Science.gov (United States)

    ... Sickle Cell Anemia Association March of Dimes National Organization for Rare Disorders (NORD) Sickle Cell Disease Association of ... Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  1. Sickle Cell Disease Association of America

    Science.gov (United States)

    ... a life by what we give." - Winston Churchill Sickle Cell Disease is a devastating and painful condition that ... SCD Global » Transition from Adolescent to Adult Care » Sickle Cell Trait & Athletics Genetic Counseling Glossary Research & Reference FAQs » ...

  2. Merkel Cell Carcinoma in Immunosuppressed Patients

    International Nuclear Information System (INIS)

    Merkel cell carcinoma (MCC) is a rare and aggressive cutaneous malignancy. The infectivity of Merkel cell polyomavirus (MCPyV), an apparent agent in MCC development, may be exacerbated with impaired immune responses. This paper reviews relevant data regarding the role of immunosuppression in the development of MCC and describes modes of immunodeficient states. Because of the inherently low incidence rate of MCC, several case studies and series are also briefly mentioned to provide a more comprehensive summary of MCC in the setting of immunosuppression. We describe immunosuppressed patients who have experienced excessive UV radiation, organ transplantation, human immunodeficiency virus infection/AIDS, autoimmune diseases, and lymphoproliferative disorders. Iatrogenic forms of immunosuppression are also highlighted. Studies that quantify risks consistently report that individuals with a history of solid organ transplantation, autoimmune diseases, AIDS, and/or lymphoproliferative diseases have a significantly elevated risk of developing MCC. Overall, immunocompromised patients also appear to have an early onset and more aggressive course of MCC, with poorer outcomes. Recommendations for multidisciplinary approaches are proposed to effectively prevent and manage MCC in these patients

  3. Merkel Cell Carcinoma in Immunosuppressed Patients

    Energy Technology Data Exchange (ETDEWEB)

    Ma, Janice E. [Mayo Clinic College of Medicine, Mayo Clinic, 200 First St SW, Rochester, MN 55905 (United States); Brewer, Jerry D., E-mail: brewer.jerry@mayo.edu [Department of Dermatology, Mayo Clinic, 200 First St SW, Rochester, MN 55905 (United States)

    2014-06-27

    Merkel cell carcinoma (MCC) is a rare and aggressive cutaneous malignancy. The infectivity of Merkel cell polyomavirus (MCPyV), an apparent agent in MCC development, may be exacerbated with impaired immune responses. This paper reviews relevant data regarding the role of immunosuppression in the development of MCC and describes modes of immunodeficient states. Because of the inherently low incidence rate of MCC, several case studies and series are also briefly mentioned to provide a more comprehensive summary of MCC in the setting of immunosuppression. We describe immunosuppressed patients who have experienced excessive UV radiation, organ transplantation, human immunodeficiency virus infection/AIDS, autoimmune diseases, and lymphoproliferative disorders. Iatrogenic forms of immunosuppression are also highlighted. Studies that quantify risks consistently report that individuals with a history of solid organ transplantation, autoimmune diseases, AIDS, and/or lymphoproliferative diseases have a significantly elevated risk of developing MCC. Overall, immunocompromised patients also appear to have an early onset and more aggressive course of MCC, with poorer outcomes. Recommendations for multidisciplinary approaches are proposed to effectively prevent and manage MCC in these patients.

  4. Stem Cells in Niemann-Pick Disease

    OpenAIRE

    Sun-Jung Kim; Joon-Suk Park; Kyung-Sun Kang

    2008-01-01

    Neural stem cells are multi-potent and able to self renew to maintain its character throughout the life. Loss of self renewal ability of stem cells prevents recovery or replacement of cells damaged by disease with new cells. The Niemann-Pick type C1 (NPC1) disease is one of the neurodegenerative diseases, caused by a mutation of NPC1 gene which affects the function of NPC1 protein. We reported that NPC 1 gene deficiency could lead to lack of the self renewal ability of neural stem cells in Ni...

  5. PDT in periodontal disease of HAART resistance patients

    Science.gov (United States)

    Giovani, Elcio M.; Noro-Filho, Gilberto A.; Caputo, Bruno V.; Casarin, Renato; Costa, Claudio; Salgado, Daniela; Santos, Camila C.

    2016-03-01

    HIV/Aids patients present a change of microbiota associated with host immunodeficiency. Photodynamic therapy (PDT) showed as a promising and viable alternative in reducing microbiota. Present study evaluate effectiveness of photodynamic therapy in periodontal disease of AIDS patients with highly activity antiretroviral therapy (HAART) failure, measuring the clinical periodontal parameters and periodontal microbiota. Twelve patients with HARRT resistance (R group) divided into two groups (control and PDT) and 12 patients with no HAART resistance (NR group) divided into two groups (control and PDT). The results show the difference in baseline of CD4 cells count, NR group 640.0 +/- 176.2 cells/mm3 R group and 333.3 +/- 205.8 cells / mm3 (pperiodontal parameters (PD and CAL), PDT was more effective than the control group only in the NR group (p periodontal parameters between the both R groups (p>0.05%). Microbiological evaluation in R group presents a general reduction in the Aa at 3 and 6 months. Furthermore, demonstrated a reduction of Pg in all groups at 6 months and in R group at 3 months. The impact assessment of photodynamic therapy in patients with different levels of immunosuppression determined that the combination of mechanical periodontal treatment with photodynamic therapy in patients with HAART failure did not cause additional benefits. Therefore, PDT in this study could not been indicated in HAART resistance patients.

  6. Pulmonary manifestations in adult patients with chronic granulomatous disease.

    Science.gov (United States)

    Salvator, Hélène; Mahlaoui, Nizar; Catherinot, Emilie; Rivaud, Elisabeth; Pilmis, Benoit; Borie, Raphael; Crestani, Bruno; Tcherakian, Colas; Suarez, Felipe; Dunogue, Bertrand; Gougerot-Pocidalo, Marie-Anne; Hurtado-Nedelec, Margarita; Dreyfus, Jean-François; Durieu, Isabelle; Fouyssac, Fanny; Hermine, Olivier; Lortholary, Olivier; Fischer, Alain; Couderc, Louis-Jean

    2015-06-01

    Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by failure of superoxide production in phagocytic cells. The disease is characterised by recurrent infections and inflammatory events, frequently affecting the lungs. Improvement of life expectancy now allows most patients to reach adulthood. We aimed to describe the pattern of pulmonary manifestations occurring during adulthood in CGD patients. This was a retrospective study of the French national cohort of adult patients (≥16 years old) with CGD. Medical data were obtained for 67 adult patients. Pulmonary manifestations affected two-thirds of adult patients. Their incidence was significantly higher than in childhood (mean annual rate 0.22 versus 0.07, p=0.01). Infectious risk persisted despite anti-infectious prophylaxis. Invasive fungal infections were frequent (0.11 per year per patient) and asymptomatic in 37% of the cases. They often required lung biopsy for diagnosis (10 out of 30). Noninfectious respiratory events concerned 28% of adult patients, frequently associated with a concomitant fungal infection (40%). They were more frequent in patients with the X-linked form of CGD. Immune-modulator therapies were required in most cases (70%). Respiratory manifestations are major complications of CGD in adulthood. Noninfectious pulmonary manifestations are as deleterious as infectious pneumonia. A specific respiratory monitoring is necessary. PMID:25614174

  7. T cells in vascular inflammatory diseases

    Directory of Open Access Journals (Sweden)

    Lucas L Lintermans

    2014-10-01

    Full Text Available Inflammation of the human vasculature is a manifestation of many different diseases ranging from systemic autoimmune diseases to chronic inflammatory diseases, in which multiple types of immune cells are involved. For both autoimmune diseases and chronic inflammatory diseases several observations support a key role for T lymphocytes in these disease pathologies, but the underlying mechanisms are poorly understood. Previous studies in several autoimmune diseases have demonstrated a significant role for a specific subset of CD4+ T cells termed effector memory T cells. This expanded population of effector memory T cells may contribute to tissue injury and disease progression. These cells exert multiple pro-inflammatory functions through the release of effector cytokines. Many of these cytokines have been detected in the inflammatory lesions and participate in the vasculitic reaction, contributing to recruitment of macrophages, neutrophils, dendritic cells, NK cells, B cells and T cells. In addition, functional impairment of regulatory T cells paralyzes anti-inflammatory effects in vasculitic disorders. Interestingly, activation of effector memory T cells in uniquely dependent on the voltage-gated Kv1.3 potassium channel providing an anchor for specific drug targeting. In this review, we focus on the CD4+ T cells in the context of vascular inflammation and describe the evidence supporting the role of different T cell subsets in vascular inflammation. Selective targeting of pathogenic effector memory T cells might enable a more tailored therapeutic approach that avoids unwanted adverse side effects of generalized immunosuppression by modulating the effector functions of T cell responses to inhibit the development of vascular inflammation.

  8. Surgical treatment of unicentric plasma cell histological type Castleman's disease

    Directory of Open Access Journals (Sweden)

    Marić Nebojša

    2011-01-01

    Full Text Available Introduction. Castleman’s disease or angiofollicular lymph hyperplasia is a rare disease with two identified clinical forms. Unicentric or localized form is characterized by isolated growth of lymph nodes, most often in mediastinum, and multicentric form is expressed as systemic disease with spread lymphadenopathy, organomegaly and presence of general symptoms of the disease. Histological types are hyalovascular, plasma-cell and transitive (mixed cell. Case report. This case report shows a woman, 59 years old, with unicentric form of plasma-cell type of Castleman’s disease. Unicentric form is usually shown as hyalovascular histological type, extremely rare as plasma-cell type, and transitive (mixed cell type was never described in literature as localized clinical form. The disease was manifested with chest pain, loss of body weight, exhaustion and weakness of legs. Further diagnostic procedures found the presence of enlarged lymph nodes paratracheally right, in a close contact with vena cava superior. The disease was confirmed by histopathological analysis of bioptated mediastinal lymph node after mediastinoscopy. Surgical treatment included extirpation of enlarged lymph nodes. After the regular postoperative condition, a full therapy effect was confirmed. Conclusion. Unicentric form of Castleman’s disease is expressed with enlarged lymph nodes on predilected places, usually in mediastinum. Surgical treatment is best method for the management of the disease and brings a full recovery of patient.

  9. Coronary artery disease in patients with dementia.

    Science.gov (United States)

    Fowkes, Ross; Byrne, Matthew; Sinclair, Hannah; Tang, Eugene; Kunadian, Vijay

    2016-09-01

    Our population is ageing. The prevalence of dementia is increasing as the population ages. Dementia is known to share many common risk factors with coronary artery disease including age, genetics, smoking, the components of the metabolic syndrome and inflammation. Despite the growing ageing population with dementia, there is underutilization of optimal care (pharmacotherapy and interventional procedures) in this cohort. Given common risk factors and potential benefit, patients with cognitive impairment and dementia should be offered contemporary care. However, further research evaluating optimal care in this patient cohort is warranted. PMID:27159265

  10. Relationships between systemic vascular resistance, blood rheology and nitric oxide in children with sickle cell anemia or sickle cell-hemoglobin C disease. : Hemodynamics in sickle cell disease

    OpenAIRE

    Lamarre, Yann; Hardy-Dessources, Marie-Dominique; Romana, Marc; Lalanne-Mistrih, Marie-Laure; Waltz, Xavier; Petras, Marie; Doumdo, Lydia; Blanchet-Deverly, Anne; Martino, Jean; Tressières, Benoît; Maillard, Frederic; Tarer, Vanessa; Etienne-Julan, Maryse; Connes, Philippe

    2013-01-01

    Vascular function has been found to be impaired in patients with sickle cell disease (SCD). The present study investigated the determinants of systemic vascular resistance in two main SCD syndromes in children: sickle cell anemia (SCA) and sickle cell-hemoglobin C disease (SCC). Nitric oxide metabolites (NOx), hematological, hemorheological, and hemodynamical parameters were investigated in 61 children with SCA and 49 children with SCC. While mean arterial pressure was not different between S...

  11. Quantification of mast cells in different stages of periodontal disease

    Directory of Open Access Journals (Sweden)

    Marjanović Dragan

    2016-01-01

    Full Text Available Background/Aim. Mast cells are mononuclear cells originating from bone marrow. They produce various biologically active substances, which allow them to actively participate in immune and inflammatory processes associated with periodontal disease. The study focused on distribution and density of mast cells in healthy gingiva as well as in different stages of periodontal disease. Methods. The material used for this purpose was gingival biopsies taken from 96 patients classified into 4 groups: healthy gingiva, gingivitis, initial and severe periodontal disease. Toluidine blue staining according to Spicer was utilized for identifying mast cells. Results. Basing on our study, the density of mast cells in the gingival tissue increases with the progression of the infection, which means they are more numerous in gingivitis compared to healthy gingiva, as well as in periodontal disease compared to gingivitis. Conclusion. Increase in the number of mast cells in the infected gingiva can be correlated with an increased influx of inflammatory cells from blood circulation into the gingival stroma, as well as with the collagen lysis, since these cells produce substances with collagenolytic potential. Based on the distribution of mast cells, it could be concluded that in the evolution of periodontal disease there are significant dynamic alterations in migration and localization of these cells.

  12. Foods for patients with celiac disease.

    Science.gov (United States)

    Campbell, J A

    1982-11-15

    As a general rule patients with celiac disease must avoid five cereals--wheat rye, triticale, barley and oats. Very sensitive individuals must also avoid two products of these cereals--malt and hydrolyzed vegetable protein. Some less sensitive individuals may be able to tolerate barley and oats in small quantities. All other foods are acceptable, including the cereals corn, rice, buckwheat, millet and sorghum, as well as malt-flavored breakfast cereals. Wine, spirits, beer and ale are also acceptable unless otherwise contraindicated. Monosodium glutamate, other food additives and pharmaceutical preparations are also acceptable. The ingredients of prepackaged processed foods are listed on the labels. Patients with celiac disease must examine labels to ensure that they avoid the harmful cereals. With appropriate precautions they need not be concerned about eating away from home. PMID:7139445

  13. Understanding the application of stem cell therapy in cardiovascular diseases

    Directory of Open Access Journals (Sweden)

    Sharma RK

    2012-10-01

    Full Text Available Rakesh K Sharma, Donald J Voelker, Roma Sharma, Hanumanth K ReddyUniversity of Arkansas for Medical Sciences, Medical Center of South Arkansas, El Dorado, AR, USAAbstract: Throughout their lifetime, an individual may sustain many injuries and recover spontaneously over a period of time, without even realizing the injury in the first place. Wound healing occurs due to a proliferation of stem cells capable of restoring the injured tissue. The ability of adult stem cells to repair tissue is dependent upon the intrinsic ability of tissues to proliferate. The amazing capacity of embryonic stem cells to give rise to virtually any type of tissue has intensified the search for similar cell lineage in adults to treat various diseases including cardiovascular diseases. The ability to convert adult stem cells into pluripotent cells that resemble embryonic cells, and to transplant those in the desired organ for regenerative therapy is very attractive, and may offer the possibility of treating harmful disease-causing mutations. The race is on to find the best cells for treatment of cardiovascular disease. There is a need for the ideal stem cell, delivery strategies, myocardial retention, and time of administration in the ideal patient population. There are multiple modes of stem cell delivery to the heart with different cell retention rates that vary depending upon method and site of injection, such as intra coronary, intramyocardial or via coronary sinus. While there are crucial issues such as retention of stem cells, microvascular plugging, biodistribution, homing to myocardium, and various proapoptotic factors in the ischemic myocardium, the regenerative potential of stem cells offers an enormous impact on clinical applications in the management of cardiovascular diseases.Keywords: stem cell therapy, stem cell delivery, cardiovascular diseases, myocardial infarction, cardiomyopathy

  14. Foods for patients with celiac disease.

    OpenAIRE

    Campbell, J. A.

    1982-01-01

    As a general rule patients with celiac disease must avoid five cereals--wheat rye, triticale, barley and oats. Very sensitive individuals must also avoid two products of these cereals--malt and hydrolyzed vegetable protein. Some less sensitive individuals may be able to tolerate barley and oats in small quantities. All other foods are acceptable, including the cereals corn, rice, buckwheat, millet and sorghum, as well as malt-flavored breakfast cereals. Wine, spirits, beer and ale are also ac...

  15. Advances in patient education in rheumatic disease.

    OpenAIRE

    Daltroy, L H; Liang, M. H.

    1991-01-01

    Education of patients with arthritis began with an emphasis on conveying knowledge, grew to include behaviour change, compliance, and more general coping and management of disease and then progressed to consider physical and psychosocial health outcomes. Research continues in all these areas. Control, in many forms (locus of control, self perceived efficacy, learned helplessness), is now suggested to be a central mediating variable. Evaluation of programmes is moving away from programme v usu...

  16. Elevated pulse pressure is associated with hemolysis, proteinuria and chronic kidney disease in sickle cell disease.

    Directory of Open Access Journals (Sweden)

    Enrico M Novelli

    Full Text Available A seeming paradox of sickle cell disease is that patients do not suffer from a high prevalence of systemic hypertension in spite of endothelial dysfunction, chronic inflammation and vasculopathy. However, some patients do develop systolic hypertension and increased pulse pressure, an increasingly recognized major cardiovascular risk factor in other populations. Hence, we hypothesized that pulse pressure, unlike other blood pressure parameters, is independently associated with markers of hemolytic anemia and cardiovascular risk in sickle cell disease. We analyzed the correlates of pulse pressure in patients (n  =  661 enrolled in a multicenter international sickle cell trial. Markers of hemolysis were analyzed as independent variables and as a previously validated hemolytic index that includes multiple variables. We found that pulse pressure, not systolic, diastolic or mean arterial pressure, independently correlated with high reticulocyte count (beta  =  2.37, p  =  0.02 and high hemolytic index (beta  =  1.53, p = 0.002 in patients with homozygous sickle cell disease in two multiple linear regression models which include the markers of hemolysis as independent variables or the hemolytic index, respectively. Pulse pressure was also independently associated with elevated serum creatinine (beta  =  3.21, p  =  0.02, and with proteinuria (beta  =  2.52, p  =  0.04. These results from the largest sickle cell disease cohort to date since the Cooperative Study of Sickle Cell Disease show that pulse pressure is independently associated with hemolysis, proteinuria and chronic kidney disease. We propose that high pulse pressure may be a risk factor for clinical complications of vascular dysfunction in sickle cell disease. Longitudinal and mechanistic studies should be conducted to confirm these hypotheses.

  17. Comparison of Tc-99m Ciprofloxacin (Infecton) and Tc-99m Methylene diphosphonate (MDP) three-phase bone scintigraphy in the diagnosis of osteomyelitis in patients with Sickle Cell Disease

    International Nuclear Information System (INIS)

    The high incidence of Sickle Cell Disease (SCD) is a major health problem in Oman. These patients are more prone to infections than the general population, and in particular, they are highly susceptible to osteomyelitis. Because bone infarction is more common than osteomyelitis in SCD, an accurate and rapid differential diagnosis is essential before initiating appropriate treatment. The present prospective study evaluates the usefulness of the new radiopharmaceutical, Tc- 99m Ciprofloxacin (Infecton) for the differential diagnosis of infection and infarction in patients with SCD. Majority of subjects studied were children. The results of Tc-99m Infecton imaging were compared with those of the 3-phase bone scintigraphy using Tc- 99m Methylene diphosphonate (Tc-99m MDP). Twenty-five patients referred for ruling out infection were imaged after intravenous injection of 5.5 MBq/kg body weight of Tc-99m Infecton. First pass, blood pool and late images (at one, four and 24 hours post injection) were performed. Subsequently all patients were also studied by three-phase bone scintigraphy using Tc-99m MDP. No adverse effects were observed. The sensitivity, specificity, accuracy and positive likelihood ratio of Tc-99m Infecton imaging for osteomyelitis were 100%, 92%, 94% and 12.5 respectively. Although bone scintigraphy would rarely be used by itself as a stand-alone test in the diagnosis of osteomyelitis in patients with SCD, its corresponding values were: 88%, 64%, 71% and 2.4. The results of this study suggest that the use of Tc-99m Infecton imaging is extremely beneficial in the management of patients of Sickle Cell Disease with suspected osteomyelitis. (author)

  18. Pluripotent stem cells in disease modelling and drug discovery.

    Science.gov (United States)

    Avior, Yishai; Sagi, Ido; Benvenisty, Nissim

    2016-03-01

    Experimental modelling of human disorders enables the definition of the cellular and molecular mechanisms underlying diseases and the development of therapies for treating them. The availability of human pluripotent stem cells (PSCs), which are capable of self-renewal and have the potential to differentiate into virtually any cell type, can now help to overcome the limitations of animal models for certain disorders. The ability to model human diseases using cultured PSCs has revolutionized the ways in which we study monogenic, complex and epigenetic disorders, as well as early- and late-onset diseases. Several strategies are used to generate such disease models using either embryonic stem cells (ES cells) or patient-specific induced PSCs (iPSCs), creating new possibilities for the establishment of models and their use in drug screening. PMID:26818440

  19. Stem cell differentiation and human liver disease

    Institute of Scientific and Technical Information of China (English)

    Wen-Li Zhou; Claire N Medine; Liang Zhu; David C Hay

    2012-01-01

    Human stem cells are scalable cell populations capable of cellular differentiation.This makes them a very attractive in vitro cellular resource and in theory provides unlimited amounts of primary cells.Such an approach has the potential to improve our understanding of human biology and treating disease.In the future it may be possible to deploy novel stem cell-based approaches to treat human liver diseases.In recent years,efficient hepatic differentiation from human stem cells has been achieved by several research groups including our own.In this review we provide an overview of the field and discuss the future potential and limitations of stem cell technology.

  20. [Vaccinations in patients with autoimmune diseases].

    Science.gov (United States)

    Bühler, Silja; Hatz, Christoph

    2016-01-01

    The number of individuals with autoimmune diseases treated with immunosuppressive drugs is increasing steadily. The variety of immunosuppressive drugs and in particular biological therapies is also rising. The autoimmune disease itself as well as the immunosuppressive therapy increases the risk of infection in this population. Particularly the risk of vaccine-preventable infections is elevated. Thus, preventing infections by the means of vaccination is of utmost importance. The Division of Infectious Diseases of the Epidemiology, Biostatistics and Prevention Institute, University of Zurich, performed a literature search on the topic of vaccinations in patients with autoimmune diseases upon request by the Swiss Federal Commission for Vaccination Issues. Overall, data are scarce. The following main points were retrieved from the literature: Inactivated vaccines are safe, but their immunogenicity may be reduced under immunosuppressive therapy. In addition to the generally recommended basic vaccinations, specific vaccinations, such as influenza and pneumococcal vaccination are indicated in these patient groups. Live vaccines are generally contraindicated under immunosuppressive therapy due to safety concerns. However, specific exceptions apply. Furthermore, certain time intervals for the administration of live vaccines after pausing or ceasing an immunosuppressive therapy should be respected. PMID:27268452