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Sample records for chronic myeloproliferative disorders

  1. Chronic myeloproliferative disorders: A rarest case with oral manifestations and dental management

    Directory of Open Access Journals (Sweden)

    Pritesh B Ruparelia

    2012-01-01

    Full Text Available Chronic myeloproliferative disorders (CMPD are rarest hematological disorders (malignant myeloid neoplasms. The three most common chronic myeloproliferative disorders are polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis. Clinical manifestations (including oral manifestations of these disorders are overlapping with each other and with other hematologic disorders, which makes the diagnosis of CMPD a challenging task. In this article we report a rare to rarest case of CMPD at dental outpatient department, its oral manifestations and its management in dental clinics.

  2. Pulmonary hypertension in patients with chronic myeloproliferative disorders

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    Yochai Adir

    2015-09-01

    Full Text Available Pulmonary hypertension (PH is a major complication of several haematological disorders. Chronic myeloproliferative diseases (CMPDs associated with pulmonary hypertension have been included in group five of the clinical classification for pulmonary hypertension, corresponding to pulmonary hypertension for which the aetiology is unclear and/or multifactorial. The aim of this review is to discuss the epidemiology, pathogenic mechanism and treatment approaches of the more common forms of pulmonary hypertension in the context of CMPD's: chronic thromboembolic pulmonary hypertension, precapillary pulmonary hypertension and drug-induced PH.

  3. Pathogenetic Role of JAK2 V617F Mutation in Chronic Myeloproliferative Disorders

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    Hui-Chi Hsu

    2007-03-01

    Full Text Available The molecular pathogenesis of chronic myeloproliferative disorders (MPDs is poorly understood. The hematopoietic progenitor cells of patients with polycythemia vera (PV or essential thrombocythemia (ET are characterized by hypersensitiv-ity to hematopoietic growth factors and formation of endogenous erythroid colonies. Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2 V617F mutation in more than 80% of PV patients, 30% of patients with ET and in about 50% of patients with idiopathic myelofibrosis. The identification of the JAK2 mutation represents a major advance in the understanding of the molecular pathogenesis of MPDs that will likely permit a new classification and the development of novel therapeutic strategies for these diseases.

  4. The JAK2 V617F mutation involves B- and T-lymphocyte lineages in a subgroup of patients with Philadelphia-chromosome negative chronic myeloproliferative disorders

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    Larsen, Thomas Stauffer; Christensen, Jacob Haaber; Hasselbalch, Hans Carl

    2007-01-01

    The JAK2 V617F mutation is a frequent genetic event in the three classical Philadelphia-chromosome negative chronic myeloproliferative disorders (Ph(neg.)-CMPD), polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Its occurrence varies in frequency in regards...

  5. Bone morbidity in chronic myeloproliferative neoplasms

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    Farmer, Sarah; Ocias, Lukas Frans; Vestergaard, Hanne

    2015-01-01

    Patients with the classical Philadelphia chromosome-negative chronic myeloproliferative neoplasms including essential thrombocythemia, polycythemia vera and primary myelofibrosis often suffer from comorbidities, in particular, cardiovascular diseases and thrombotic events. Apparently, there is also...

  6. Inheritance of the chronic myeloproliferative neoplasms. A systematic review

    DEFF Research Database (Denmark)

    Ranjan, Ajenthen; Penninga, E; Jelsig, Am

    2012-01-01

    This systematic review investigated the inheritance of the classical chronic myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and chronic myelogenous leukemia (CML). Sixty-one articles were included and provided 135...

  7. Oncogenes in myeloproliferative disorders.

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    Tefferi, Ayalew; Gilliland, D Gary

    2007-03-01

    Myeloproliferative disorders (MPDs) constitute a group of hematopoietic malignancies that feature enhanced proliferation and survival of one or more myeloid lineage cells. William Dameshek is credited for introducing the term "MPDs" in 1951 when he used it to group chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) under one clinicopathologic category. Since then, other myeloid neoplasms have been added to the MPD member list: chronic neutrophilic (CNL), eosinophilic (CEL) and myelomonocytic (CMML) leukemias; juvenile myelomonocytic leukemia (JMML); hypereosinophilic syndrome (HES); systemic mastocytosis (SM); and others. Collectively, MPDs are stem cell-derived clonal proliferative diseases whose shared and diverse phenotypic characteristics can be attributed to dysregulated signal transduction--a consequence of acquired somatic mutations. The most recognized among the latter is BCR-ABL, the disease-causing mutation in CML. Other mutations of putative pathogenetic relevance in MPDs include: JAK2V617F in PV, ET, and PMF; JAK2 exon 12 mutations in PV; MPLW515L/K in PMF and ET; KITD816V in SM; FIP1L1-PDGFRA in CEL-SM; rearrangements of PDGFRB in CEL-CMML and FGFR1 in stem cell leukemia-lymphoma syndrome; and RAS/PTPN11/NF1 mutations in JMML. This increasing repertoire of mutant molecules has streamlined translational research and molecularly targeted drug development in MPDs.

  8. Recent advances in the bcr-abl negative chronic myeloproliferative diseases

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    Stroncek David F

    2006-10-01

    Full Text Available Abstract The chronic myeloproliferative disorders are clonal hematopoietic stem cell disorders of unknown etiology. In one of these (chronic myeloid leukemia, there is an associated pathognomonic chromosomal abnormality known as the Philadelphia chromosome. This leads to constitutive tyrosine kinase activity which is responsible for the disease and is used as a target for effective therapy. This review concentrates on the search in the other conditions (polycythemia vera, essential thrombocythemia and idiopathic mylofibrosis for a similar biological marker with therapeutic potential. There is no obvious chromosomal marker in these conditions and yet evidence of clonality can be obtained in females by the use of X-inactivation patterns. PRV-1mRNA over expression, raised vitamin B12 levels and raised neutrophil alkaline phosphatase scores are evidence that cells in these conditions have received excessive signals for proliferation, maturation and reduced apoptosis. The ability of erythroid colonies to grow spontaneously without added external erythropoietin in some cases, provided a useful marker and a clue to this abnormal signaling. In the past year several important discoveries have been made which go a long way in elucidating the involved pathways. The recently discovered JAK2 V617F mutation which occurs in the majority of cases of polycythemia vera and in about half of the cases with the two other conditions, enables constitutive tyrosine kinase activity without the need for ligand binding to hematopoietic receptors. This mutation has become the biological marker for these conditions and has spurred the development of a specific therapy to neutralize its effects. The realization that inherited mutations in the thrombopoietin receptor (c-Mpl can cause a phenotype of thrombocytosis such as in Mpl Baltimore (K39N and in a Japanese family with S505A, has prompted the search for acquired mutations in this receptor in chronic myeloproliferative

  9. Chronic myeloproliferative neoplasms and subsequent cancer risk: a Danish population-based cohort study

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    Frederiksen, Henrik; Farkas, Dóra Körmendiné; Christiansen, Christian Fynbo

    2011-01-01

    Patients with chronic myeloproliferative neoplasms, including essential thrombocythemia (ET), polycythemia vera (PV), and chronic myeloid leukemia (CML), are at increased risk of new hematologic malignancies, but their risk of nonhematologic malignancies remains unknown. In the present study, we...

  10. A sensitive detection method for MPLW515L or MPLW515K mutation in chronic myeloproliferative disorders with locked nucleic acid-modified probes and real-time polymerase chain reaction.

    OpenAIRE

    Alessandro, Pancrazzi; Paola, Guglielmelli; Vanessa, Ponziani; Gaetano, Bergamaschi; Alberto, Bosi; Giovanni, Barosi; Alessandro M, Vannucchi

    2008-01-01

    Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders. We have developed a real-time polymerase chain reaction assay for the detection and quantification of MPL mutations that is based on locked nucleic acid fluorescent probes. Mutational analysis was performed using DNA from granulocytes. Reference curves we...

  11. Nye molekylaere markører ved de kroniske myeloproliferative sygdomme

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    Larsen, Thomas Stauffer; Pallisgaard, Niels; Christensen, Jacob Haaber

    2006-01-01

    The Philadelphia-negative chronic myeloproliferative disorders feature autonomous myeloid hyperproliferation and hypersensitivity to a number of growth factors, which most recently have been shown to be explained by a guanine-to-thymidine mutation in the Janus tyrosine kinase (JAK2) gene, implica...

  12. Increased gene expression of histone deacetylases in patients with Philadelphia-negative chronic myeloproliferative neoplasms

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    Skov, Vibe; Larsen, Thomas Stauffer; Thomassen, Mads

    2012-01-01

    Abstract Myeloproliferation, myeloaccumulation (decreased apoptosis), inflammation, bone marrow fibrosis and angiogenesis are cardinal features of the Philadelphia-negative chronic myeloproliferative neoplasms: essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF...

  13. Low frequency of c-MPL gene mutations in Iranian patients with Philadelphia-negative myeloproliferative disorders.

    Science.gov (United States)

    Ghotaslou, A; Nadali, F; Chahardouli, B; Alizad Ghandforosh, N; Rostami, S H; Alimoghaddam, K; Ghavamzadeh, A

    2015-01-01

    Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene have been reported in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of the present study was to investigate the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negativemyeloproliferative disorders. Peripheral blood samples were collected from 60 patients with Philadelphia-negative MPD) Subgroups ET and PMF) and 25 healthy subjects as control group. The mutation status of c-MPL and Jak2V617F were investigated by using Amplification-refractory mutation system (ARMS) and Allele-Specific PCR (AS-PCR), respectively. The results were confirmed by sequencing. Among 60 patients, 34 (56.6%) and 1(1.7%) had Jak2V617F and c-MPL mutation, respectively. Patients with Jak2V617F mutation had higher WBC counts and hemoglobin concentration than those without the mutation (p= 0.005, p=0.003). In addition, for all healthy subjects in control group, mutations were negative. The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations are rare in Iranian patients with Ph-negative MPNs and the low mutation rate should be considered in the design of screening strategies of MPD patients.

  14. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.

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    Pardanani, Animesh D; Levine, Ross L; Lasho, Terra; Pikman, Yana; Mesa, Ruben A; Wadleigh, Martha; Steensma, David P; Elliott, Michelle A; Wolanskyj, Alexandra P; Hogan, William J; McClure, Rebecca F; Litzow, Mark R; Gilliland, D Gary; Tefferi, Ayalew

    2006-11-15

    Recently, a gain-of-function MPL mutation, MPLW515L, was described in patients with JAK2V617F-negative myelofibrosis with myeloid metaplasia (MMM). To gain more information on mutational frequency, disease specificity, and clinical correlates, genomic DNA from 1182 patients with myeloproliferative and other myeloid disorders and 64 healthy controls was screened for MPL515 mutations, regardless of JAK2V617F mutational status: 290 with MMM, 242 with polycythemia vera, 318 with essential thrombocythemia (ET), 88 with myelodysplastic syndrome, 118 with chronic myelomonocytic leukemia, and 126 with acute myeloid leukemia (AML). MPL515 mutations, either MPLW515L (n = 17) or a previously undescribed MPLW515K (n = 5), were detected in 20 patients. The diagnosis of patients with mutant MPL alleles at the time of molecular testing was de novo MMM in 12 patients, ET in 4, post-ET MMM in 1, and MMM in blast crisis in 3. Six patients carried the MPLW515L and JAK2V617F alleles concurrently. We conclude that MPLW515L or MPLW515K mutations are present in patients with MMM or ET at a frequency of approximately 5% and 1%, respectively, but are not observed in patients with polycythemia vera (PV) or other myeloid disorders. Furthermore, MPL mutations may occur concurrently with the JAK2V617F mutation, suggesting that these alleles may have functional complementation in myeloproliferative disease.

  15. Interferon-alpha in the treatment of Philadelphia-negative chronic myeloproliferative neoplasms. Status and perspectives

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    Hasselbalch, Hans Carl; Larsen, Thomas Stauffer; Riley, Caroline Hasselbalch

    2011-01-01

    The Philadelphia-negative chronic myeloproliferative neoplasms encompass essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF). A major break-through in the understanding of the pathogenesis of these neoplasms occurred in 2005 by the discovery of the JAK2 V617F...

  16. Adaptor protein Lnk negatively regulates the mutant MPL, MPLW515L associated with myeloproliferative disorders

    OpenAIRE

    Gery, Sigal; Gueller, Saskia; Chumakova, Katya; Kawamata, Norihiko; Liu, Liqin; Koeffler, H. Phillip

    2007-01-01

    Recently, activating myeloproliferative leukemia virus oncogene (MPL) mutations, MPLW515L/K, were described in myeloproliferative disorder (MPD) patients. MPLW515L leads to activation of downstream signaling pathways and cytokine-independent proliferation in hematopoietic cells. The adaptor protein Lnk is a negative regulator of several cytokine receptors, including MPL. We show that overexpression of Lnk in Ba/F3-MPLW515L cells inhibits cytokine-independent growth, while suppression of Lnk i...

  17. Myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Roaldsnes, Christina; Holst, René; Frederiksen, Henrik

    2017-01-01

    BACKGROUND: Polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis (MF) are clonal disorders collectively named as myeloproliferative neoplasms (MPN). Published data on epidemiology of MPN after the discovery of the JAK2 mutation and the 2008 WHO classifications are scarce. We...

  18. Review of current classification, molecular alterations, and tyrosine kinase inhibitor therapies in myeloproliferative disorders with hypereosinophilia

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    Havelange V

    2013-08-01

    Full Text Available Violaine Havelange,1,2 Jean-Baptiste Demoulin1 1de Duve Institute, Université catholique de Louvain, Brussels, Belgium; 2Department of Hematology, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium Abstract: Recent advances in our understanding of the molecular mechanisms underlying hypereosinophilia have led to the development of a 'molecular' classification of myeloproliferative disorders with eosinophilia. The revised 2008 World Health Organization classification of myeloid neoplasms included a new category called “myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1.” Despite the molecular heterogeneity of PDGFR (platelet-derived growth factor receptor rearrangements, tyrosine kinase inhibitors at low dose induce rapid and complete hematological remission in the majority of these patients. Other kinase inhibitors are promising. Further discoveries of new molecular alterations will direct the development of new specific inhibitors. In this review, an update of the classifications of myeloproliferative disorders associated with hypereosinophilia is discussed together with open and controversial questions. Molecular mechanisms and promising results of tyrosine kinase inhibitor treatments are reviewed. Keywords: hypereosinophilia, classification, myeloproliferative disorders, molecular alterations, tyrosine kinase inhibitor

  19. A mutação JAK2 V617F e as síndromes mieloproliferativas JAK2 V617F mutation and the myeloproliferative disorders

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    Bárbara C. R. Monte-Mór

    2008-01-01

    Full Text Available Síndromes mieloproliferativas (SMPs são doenças hematopoéticas de origem clonal que apresentam amplificação de uma ou mais linhagens mielóides. Policitemia vera (PV, trombocitemia essencial (TE, mielofibrose idiopática (MF e leucemia mielóide crônica (LMC são consideradas SMPs clássicas e apresentam características clínicas e biológicas comuns. Ao contrário de LMC, cuja etiologia está relacionada à proteína constitutivamente ativa Bcr-Abl, o mecanismo molecular de PV, TE e MF permaneceu por muito tempo desconhecido. Esta revisão se foca na recente descoberta da mutação JAK2 V617F em pacientes com PV, TE e MF, sua relação com o fenótipo mieloproliferativo e implicações na abordagem clínica de pacientes.Myeloproliferative disorders are clonal hematopoietic diseases that are characterized by the amplification of one or more myeloid lineages. Polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis and chronic myeloid leukemia are considered classic myeloproliferative disorders and share common clinical and biological features. While the genetic basis of chronic myeloid leukemia is shown to be the constitutive active protein BCR-ABL, the main molecular lesions in polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis remain unknown. This review focuses on the recent discovery of the JAK2 V617F mutation, its relationship to the myeloproliferative phenotype and implications in the clinical approach of patients.

  20. A sensitive detection method for MPLW515L or MPLW515K mutation in chronic myeloproliferative disorders with locked nucleic acid-modified probes and real-time polymerase chain reaction.

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    Pancrazzi, Alessandro; Guglielmelli, Paola; Ponziani, Vanessa; Bergamaschi, Gaetano; Bosi, Alberto; Barosi, Giovanni; Vannucchi, Alessandro M

    2008-09-01

    Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders. We have developed a real-time polymerase chain reaction assay for the detection and quantification of MPL mutations that is based on locked nucleic acid fluorescent probes. Mutational analysis was performed using DNA from granulocytes. Reference curves were obtained using cloned fragments of MPL containing either the wild-type or mutated sequence; the predicted sensitivity level was at least 0.1% mutant allele in a wild-type background. None of the 60 control subjects presented with a MPLW515L/K mutation. Of 217 patients with myelofibrosis, 19 (8.7%) harbored the MPLW515 mutation, 10 (52.6%) with the W515L allele. In one case, both the W515L and W515K alleles were detected by real-time polymerase chain reaction. By comparing results obtained with conventional sequencing, no erroneous genotype attribution using real-time polymerase chain reaction was found, whereas one patient considered wild type according to sequence analysis actually harbored a low W515L allele burden. This is a simple, sensitive, and cost-effective procedure for large-scale screening of the MPLW515L/K mutation in patients suspected to have a myeloproliferative disorder. It can also provide a quantitative estimate of mutant allele burden that might be useful for both patient prognosis and monitoring response to therapy.

  1. MPL mutation profile in JAK2 mutation-negative patients with myeloproliferative disorders.

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    Ma, Wanlong; Zhang, Xi; Wang, Xiuqiang; Zhang, Zhong; Yeh, Chen-Hsiung; Uyeji, Jennifer; Albitar, Maher

    2011-03-01

    Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs). We evaluated the prevalence of MPL mutations relative to JAK2 mutations in patients with suspected MPDs. A total of 2790 patient samples submitted for JAK2 mutation analysis were tested using real-time polymerase chain reaction and bidirectional sequencing of plasma RNA. JAK2 V617F-negative samples were tested for JAK2 exons 12 to 14 mutations, and those with negative results were then tested for mutations in MPL exons 10 and 11. Of the 2790 patients, 529 (18.96%) had V617F, 12 (0.43%) had small insertions or deletions in exon 12, and 7 (0.25%) had other JAK2 mutations in exons 12 to 14. Of the 2242 JAK2 mutation-negative patients, 68 (3.03%) had MPL mutations. W515L was the predominant MPL mutation (n=46; 68%), and 10 (15%) patients had other W515 variants. The remaining MPL mutations (n=12, 17%) were detected at other locations in exons 10 and 11 and included 3 insertion/deletion mutations. The S505N mutation, associated with familial MPD, was detected in 3 patients. Overall, for every 100 V617F mutations in patients with suspected MPDs, there were 12.9 MPL mutations, 2.3 JAK2 exon 12 mutations, and 1.3 JAK2 exons 13 to 14 mutations. These findings suggest that MPL mutation screening should be performed before JAK2 exons 12 to 14 testing in JAK2 V617F-negative patients with suspected MPDs.

  2. [Evidence on chronic myeloproliferative neoplasms from landmark clinical trials].

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    Yamaguchi, Hiroki

    2015-08-01

    Mutations in the JAK2 gene are thought to underlie the development of chronic myeloproliferative neoplasms (cMPN). Indeed, ≥95% of polycythemia vera patients, and half or more of essential thrombocythemia and primary myelofibrosis (PMF) patients, harbor the JAK2V617F mutation. Besides the JAK2V617F mutation, the JAK2 exon 12 deletion, the MPLW515L/K, and CALR mutation have been discovered and shown to be involved in the pathogenesis of these diseases. Based on these advancements in the study of cMPN, the JAK2 inhibitor was developed as a new therapy for PMF. Moreover, recent advancements in our ability to diagnose cMPN have paralleled the development of large clinical trials for patients with cMPN. This article provides explanatory information from these large clinical trials that is useful for the actual clinical practice of caring for patients with cMPN in Japan.

  3. Treatment for Chronic Pain in Patients With Advanced Cancer

    Science.gov (United States)

    2016-11-25

    Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Pain; Precancerous/Nonmalignant Condition; Small Intestine Cancer; Unspecified Adult Solid Tumor, Protocol Specific

  4. Studies on 99Tcm-sulfur colloid bone marrow scintigraphy in myeloproliferative disorders

    International Nuclear Information System (INIS)

    Liu Yong; Zhang Yifan; Jia Fangxian; Kang Fu; Jian Shiquan

    2002-01-01

    Objective: To discuss the imaging features and changing patterns of bone marrow scintigraphy in myeloproliferative disorders (MPD) as well as its clinical significance. Methods: Bone marrow scintigraphy using 99 Tc m -sulfur colloid 370-550 MBq was performed on 85 MPD patients, including 40 cases of idiopathic myelofibrosis (IMF), 15 of polycythemia vera (PV), 5 of essential thrombocythaemia (ET), 30 of chronic granulocytic leukemia. Also, 40 cases of myelodysplastic syndromes (MDS) were observed in this study. Results: Abnormal bone marrow imaging was found in 88.2% of the 85 patients. The suppression rate of central bone marrow (CBM) and expansion rate of peripheral bone marrow (PBM) in these MPD patients were 61.2% and 56.5%, respectively. The imaging patterns was classified into three types according to the distribution and activity of bone marrow. 1) reduced imaging (31.8%); 2) increased and expanded imaging (27.1%); 3) depressed and expanded imaging (29.4%). Splenomegaly with minimal residual marrow activity was typical for late stages of MPD. Expansion of PBM was the further feature, but of no major importance for improving hematopoiesis of MPD, and it tended to retract during clinical recovery in chronic granulocytic leukemia (CGL). With expanding PBM, unmatched peripheral blood decreasing was found in MDS. The expansion pattern of PBM in different MPD was of relatively definite features. Conclusions: The imaging pattern of bone marrow was correlated with blood work-up data and clinical course or stages of MPD. Bone marrow scintigraphy may be proven useful in differential diagnosis and evaluation of clinical staging and prognosis of MPD

  5. Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms

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    Joseph Tripodi

    2010-09-01

    Full Text Available Joseph Tripodi1, Ronald Hoffman1, Vesna Najfeld2, Rona Weinberg31The Myeloproliferative Disorders Program, Tisch Cancer Institute, Department of Medicine and 2Department of Medicine and Pathology, Mount Sinai School of Medicine, 3The Myeloproliferative Disorders Program, Cellular Therapy Laboratory, The New York Blood Center, New York, NY, USAAbstract: The Philadelphia chromosome (Ph-negative myeloproliferative neoplasms (MPNs, including polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a group of clonal hematopoietic stem cell disorders with overlapping clinical and cytogenetic features and a variable tendency to evolve into acute leukemia. These diseases not only share overlapping chromosomal abnormalities but also a number of acquired somatic mutations. Recently, mutations in a putative tumor suppressor gene, ten-eleven translocation 2 (TET2 on chromosome 4q24 have been identified in 12% of patients with MPN. Additionally 4q24 chromosomal rearrangements in MPN, including TET2 deletions, have also been observed using conventional cytogenetics. The goal of this study was to investigate the frequency of genomic TET2 rearrangements in MPN using fluorescence in situ hybridization as a more sensitive method for screening and identifying genomic deletions. Among 146 MPN patients, we identified two patients (1.4% who showed a common 4q24 deletion, including TET2. Our observations also indicated that the frequency of TET2 deletion is increased in patients with an abnormal karyotype (5%.Keywords: TET2, myeloproliferative neoplasms, fluorescence in situ hybridization, cytogenetics

  6. Myelodysplastic/ Myeloproliferative Neoplasms Treatment (PDQ®)—Health Professional Version

    Science.gov (United States)

    Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are treated with chemotherapy or other drugs, stem cell transplant, supportive care, and targeted therapy. They include chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), and atypical chronic myeloid leukemia (aCML). Learn about the clinical features and treatment options for these leukemias.

  7. Changing patterns of radiosensitivity of hematopoietic progenitors from chronically irradiated dogs prone either to aplastic anemia or to myeloproliferative disease

    International Nuclear Information System (INIS)

    Seed, T.M.; Kaspar, L.V.

    1990-01-01

    Hematopoietic patterns have been assessed in chronic 60 Co gamma irradiated dogs during preclinical phases of evolving aplastic anemia (AA) or myeloproliferative disease (MPD), principally myeloid leukemia. The results support the concept that acquired radioresistance of vital granulocyte/monocyte lineage-committed hematopoietic progenitors is temporally, perhaps causally, linked to the processes mediating hematopoietic recovery and accommodation under chronic irradiation, and in turn to preclinical events of evolving MPD. In addition, the marked differential responses of progenitors to gamma and neutron irradiation in vitro might suggest differences in the nature of cellular lesions elicited by chronic gamma irradiation, in vivo. (author)

  8. Changing patterns of radiosensitivity of hematopoietic progenitors from chronically irradiated dogs prone either to aplastic anemia or to myeloproliferative disease

    Energy Technology Data Exchange (ETDEWEB)

    Seed, T.M.; Kaspar, L.V. (Oak Ridge National Lab., TN (USA))

    1990-01-01

    Hematopoietic patterns have been assessed in chronic {sup 60}Co gamma irradiated dogs during preclinical phases of evolving aplastic anemia (AA) or myeloproliferative disease (MPD), principally myeloid leukemia. The results support the concept that acquired radioresistance of vital granulocyte/monocyte lineage-committed hematopoietic progenitors is temporally, perhaps causally, linked to the processes mediating hematopoietic recovery and accommodation under chronic irradiation, and in turn to preclinical events of evolving MPD. In addition, the marked differential responses of progenitors to gamma and neutron irradiation in vitro might suggest differences in the nature of cellular lesions elicited by chronic gamma irradiation, in vivo. (author).

  9. Philadelphia chromosome-negative myeloproliferative disorders: biology and treatment.

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    Hoffman, Ronald; Prchal, Josef T; Samuelson, Scott; Ciurea, Stefan O; Rondelli, Damiano

    2007-01-01

    The Philadelphia chromosome (Ph)-negative myeloproliferative disorders (MPDs) include essential thrombocythemia (ET), idiopathic myelofibrosis (IMF), and polycythemia vera (PV). All of these disorders are clonal hematologic malignancies originating at the level of the pluripotent hematopoietic stem cell. Recently, activating mutations of the intracellular cytokine-signaling molecule JAK2 have been identified in > 90% of patients with PV and in 50% of those with IMF and ET. In addition, a mutation of the thrombopoietin receptor, MPLW515L, has been documented in some patients with IMF. Both mutations activate JAK-STAT signaling pathways and likely play a role in disease progression. Both ET and PV are associated with prolonged clinical courses associated with frequent thrombotic and hemorrhagic events, and progression to myelofibrosis and acute leukemia. IMF has a much poorer prognosis and is associated with cytopenias, splenomegaly, extramedullary hematopoiesis, and bone marrow fibrosis. Stratification of risk for the development of complications from Ph-negative MPDs has guided the identification of appropriate therapies for this population. Intermediate/high-risk IMF or myelofibrosis after ET or PV is associated with a sufficiently poor prognosis to justify the use of allogeneic stem cell transplantation, which is capable of curing such patients. Reduced-intensity conditioning in preparation for allogeneic stem cell transplantation has permitted older patients with IMF to undergo transplantation with increasing success.

  10. Renal Bleeding Due to Extramedullary Hematopoiesis in a Patient With Chronic Myelogenous Leukemia

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    Stephanie Zettner

    2014-11-01

    Full Text Available Chronic myelogenous leukemia (CML is a myeloproliferative disorder that normally presents in middle-aged adults. Renal infiltration and extramedullary hematopoiesis in renal tissue has been rarely reported. This case report presents a patient with CML and renal insufficiency who developed gross hematuria. Efforts at controlling the hematuria led to a cascade of events propelled by the underlying disorder that ultimately led to a radical nephrectomy, multiorgan failure, and prolonged hospitalization. We suggest that management of gross hematuria in clinically stable patients with CML, suspected of having extramedullary hematopoiesis, should prioritize treatment of the myeloproliferative disorder over efforts to control bleeding.

  11. Renal Bleeding Due to Extramedullary Hematopoiesis in a Patient With Chronic Myelogenous Leukemia.

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    Zettner, Stephanie; Mistry, Sandeep G

    2014-11-01

    Chronic myelogenous leukemia (CML) is a myeloproliferative disorder that normally presents in middle-aged adults. Renal infiltration and extramedullary hematopoiesis in renal tissue has been rarely reported. This case report presents a patient with CML and renal insufficiency who developed gross hematuria. Efforts at controlling the hematuria led to a cascade of events propelled by the underlying disorder that ultimately led to a radical nephrectomy, multiorgan failure, and prolonged hospitalization. We suggest that management of gross hematuria in clinically stable patients with CML, suspected of having extramedullary hematopoiesis, should prioritize treatment of the myeloproliferative disorder over efforts to control bleeding.

  12. Chronic neutrophilic leukemia.

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    Bredeweg, Arthur; Burch, Micah; Krause, John R

    2018-01-01

    Chronic neutrophilic leukemia is a rare myeloproliferative disorder characterized by a sustained peripheral blood neutrophilia, absence of the BCR/ABL oncoprotein, bone marrow hypercellularity with less than 5% myeloblasts and normal neutrophil maturation, and no dysplasia. This leukemia has been associated with mutations in the colony-stimulating factor 3 receptor (CSF3R) that may activate this receptor, leading to the proliferation of neutrophils that are the hallmark of chronic neutrophilic leukemia. We present a case of chronic neutrophilic leukemia and discuss the criteria for diagnosis and the significance of mutations found in this leukemia.

  13. Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders

    Science.gov (United States)

    2017-03-21

    Chronic Kidney Disease; Acute Myeloid Leukemia (AML); Acute Lymphoblastic Leukemia (ALL); Chronic Myelogenous Leukemia (CML); Chronic Lymphocytic Leukemia (CLL); Non-Hodgkin's Lymphoma (NHL); Hodgkin Disease; Multiple Myeloma; Myelodysplastic Syndrome (MDS); Aplastic Anemia; AL Amyloidosis; Diamond Blackfan Anemia; Myelofibrosis; Myeloproliferative Disease; Sickle Cell Anemia; Autoimmune Diseases; Thalassemia

  14. Adaptor protein Lnk negatively regulates the mutant MPL, MPLW515L associated with myeloproliferative disorders.

    Science.gov (United States)

    Gery, Sigal; Gueller, Saskia; Chumakova, Katya; Kawamata, Norihiko; Liu, Liqin; Koeffler, H Phillip

    2007-11-01

    Recently, activating myeloproliferative leukemia virus oncogene (MPL) mutations, MPLW515L/K, were described in myeloproliferative disorder (MPD) patients. MPLW515L leads to activation of downstream signaling pathways and cytokine-independent proliferation in hematopoietic cells. The adaptor protein Lnk is a negative regulator of several cytokine receptors, including MPL. We show that overexpression of Lnk in Ba/F3-MPLW515L cells inhibits cytokine-independent growth, while suppression of Lnk in UT7-MPLW515L cells enhances proliferation. Lnk blocks the activation of Jak2, Stat3, Erk, and Akt in these cells. Furthermore, MPLW515L-expressing cells are more susceptible to Lnk inhibitory functions than their MPL wild-type (MPLWT)-expressing counterparts. Lnk associates with activated MPLWT and MPLW515L and colocalizes with the receptors at the plasma membrane. The SH2 domain of Lnk is essential for its binding and for its down-regulation of MPLWT and MPLW515L. Lnk itself is tyrosine-phosphorylated following thrombopoietin stimulation. Further elucidating the cellular pathways that attenuate MPLW515L will provide insight into the pathogenesis of MPD and could help develop specific therapeutic approaches.

  15. Analyses of critical target cell responses during preclinical phases of evolving chronic radiation-induced myeloproliferative disease-exploitation of a unique canine model

    International Nuclear Information System (INIS)

    Seed, T.M.; Kaspar, L.V.; Tolle, D.V.; Fritz, T.E.; Frazier, M.E.

    1988-01-01

    This document briefly summarizes and highlights ongoing studies on the cellular and molecular processes involved in the induction and progression of myeloid leukemia in dogs chronically exposed to low daily doses of wholebody gamma irradiation. Under such conditions, select groups of dogs exhibit extremely high frequencies of myeloproliferative disease (MPD) (i.e., /congruent/50%) of which myeloid leukemia is most prominent. 2 figs

  16. Analyses of critical target cell responses during preclinical phases of evolving chronic radiation-induced myeloproliferative disease-exploitation of a unique canine model

    Energy Technology Data Exchange (ETDEWEB)

    Seed, T.M.; Kaspar, L.V.; Tolle, D.V.; Fritz, T.E.; Frazier, M.E.

    1988-01-01

    This document briefly summarizes and highlights ongoing studies on the cellular and molecular processes involved in the induction and progression of myeloid leukemia in dogs chronically exposed to low daily doses of wholebody gamma irradiation. Under such conditions, select groups of dogs exhibit extremely high frequencies of myeloproliferative disease (MPD) (i.e., /congruent/50%) of which myeloid leukemia is most prominent. 2 figs.

  17. An International MDS/MPN Working Group’s perspective and recommendations on molecular pathogenesis, diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms

    Science.gov (United States)

    Mughal, Tariq I.; Cross, Nicholas C.P.; Padron, Eric; Tiu, Ramon V.; Savona, Michael; Malcovati, Luca; Tibes, Raoul; Komrokji, Rami S.; Kiladjian, Jean-Jacques; Garcia-Manero, Guillermo; Orazi, Attilio; Mesa, Ruben; Maciejewski, Jaroslaw P.; Fenaux, Pierre; Itzykson, Raphael; Mufti, Ghulam; Solary, Eric; List, Alan F.

    2015-01-01

    In the 2008 WHO classification, chronic myeloid malignancies that share both myelodysplastic and myeloproliferative features define the myelodysplastic/myeloproliferative group, which includes chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia, refractory anemia with ring sideroblasts and thrombocytosis, and myelodysplastic/myeloproliferative unclassified. With the notable exception of refractory anemia with ring sideroblasts and thrombocytosis, there is much overlap among the various subtypes at the molecular and clinical levels, and a better definition of these entities, an understanding of their biology and an identification of subtype-specific molecular or cellular markers are needed. To address some of these challenges, a panel comprised of laboratory and clinical experts in myelodysplastic/myeloproliferative was established, and four independent academic MDS/MPN workshops were held on: 9th March 2013, in Miami, Florida, USA; 6th December 2013, in New Orleans, Louisiana, USA; 13th June 2014 in Milan, Italy; and 5th December 2014 in San Francisco, USA. During these meetings, the current understanding of these malignancies and matters of biology, diagnosis and management were discussed. This perspective and the recommendations on molecular pathogenesis, diagnosis and clinical characterization for adult onset myelodysplastic/myeloproliferative is the result of a collaborative project endorsed and supported by the MDS Foundation. PMID:26341525

  18. Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment

    Science.gov (United States)

    2016-07-01

    Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Nausea and Vomiting; Precancerous Condition; Small Intestine Cancer; Unspecified Adult Solid Tumor, Protocol Specific; Unspecified Childhood Solid Tumor, Protocol Specific

  19. Non-invasive imaging of retinal blood flow in myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Willerslev, Anne; Hansen, Mathias M; Klefter, Oliver Niels

    2017-01-01

    PURPOSE: To study the circulation in the retinal vessels in patients with blood dyscrasia due to myeloproliferative neoplasms using non-invasive retinal imaging. METHODS: Prospective consecutive case series of seven treatment-naïve patients with chronic myeloid leukaemia (n = 2), polycythemia vera...... present at baseline in patients with chronic myeloid leukaemia and were replaced by normal patterns at follow-up. Retinopathy, in the form of cotton-wool spots and retinal haemorrhages, was found at presentation in the two patients with chronic myeloid leukaemia and in one patient with polycythemia vera...

  20. Open Label, Phase II Study to Evaluate Efficacy and Safety of Oral Nilotinib in Philadelphia Positive (Ph+) Chronic Myelogenous Leukemia (CML) Pediatric Patients.

    Science.gov (United States)

    2018-04-20

    Leukemia; Leukemia,Pediatric; Leukemia, Myleiod; Leukemia, Mylegenous, Chronic; Leukemia, Mylegenous, Accelerated; BCR-ABL Positive; Myeloproliferative Disorder; Bone Marrow Disease; Hematologic Diseases; Neoplastic Processes; Imatinib; Dasatinib; Enzyme Inhibitor; Protein Kinase Inhibitor

  1. Safety and efficacy of combination therapy of interferon-alpha2 + JAK1-2 Inhibitor in the philadelphia-negative chronic myeloproliferative neoplasms. Preliminary results from the danish combi-trial-an open label, single arm, non-randomized multicenter phase II study

    DEFF Research Database (Denmark)

    Mikkelsen, S. U.; Kjaer, L.; Skov, V.

    2015-01-01

    Background: The Philadelphia-negative, chronic myeloproliferative neoplasms (MPN) include essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (MF) (PMF). Chronic inflammation and a deregulated immune system are considered important for clonal evolution and disease...

  2. Tissue, Blood, and Body Fluid Sample Collection From Patients With Hematologic Cancer

    Science.gov (United States)

    2017-09-20

    Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Nonmalignant Neoplasm

  3. Leucemia mieloide crônica e outras doenças mieloproliferativas crônicas Chronic myeloid leukemia and other chronic myeloproliferative disorders

    Directory of Open Access Journals (Sweden)

    Vaneuza M. Funke

    2010-05-01

    HSCT have been restricted as a result of mortality related to this procedure and imatinib mesylate has become the new treatment of choice for this disease. In Brazil and possibly in other developing countries, socio-economic conditions make HSCT still feasible as first-line treatment in some situations. The HSCT remains indicated for Ph negative myeloproliferative disorders such as high risk myelofibrosis or patients with polycythemia vera or essential thrombocytosis that have evolved to myelofibrosis with high-risk features.

  4. Methemoglobinemia in Young Patients With Hematologic Cancer or Aplastic Anemia Treated With Dapsone

    Science.gov (United States)

    2017-04-13

    Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Methemoglobinemia; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Nonmalignant Neoplasm

  5. Chronic motor tic disorder

    Science.gov (United States)

    Chronic vocal tic disorder; Tic - chronic motor tic disorder ... Chronic motor tic disorder is more common than Tourette syndrome . Chronic tics may be forms of Tourette syndrome. Tics usually start ...

  6. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion

    OpenAIRE

    Barbui, Tiziano; Thiele, Jürgen; Gisslinger, Heinz; Kvasnicka, Hans Michael; Vannucchi, Alessandro M.; Guglielmelli, Paola; Orazi, Attilio; Tefferi, Ayalew

    2018-01-01

    The new edition of the 2016 World Health Organization (WHO) classification system for tumors of the hematopoietic and lymphoid tissues was published in September 2017. Under the category of myeloproliferative neoplasms (MPNs), the revised document includes seven subcategories: chronic myeloid leukemia, chronic neutrophilic leukemia, polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), chronic eosinophilic leukemia-not otherwise specified and MPN, unclassifiable...

  7. Baclofen-Amitriptyline Hydrochloride-Ketamine Gel in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer

    Science.gov (United States)

    2017-07-25

    Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Neurotoxicity; Pain; Unspecified Adult Solid Tumor, Protocol Specific

  8. Renal Bleeding Due to Extramedullary Hematopoiesis in a Patient With Chronic Myelogenous Leukemia

    OpenAIRE

    Stephanie Zettner; Sandeep G. Mistry

    2014-01-01

    Chronic myelogenous leukemia (CML) is a myeloproliferative disorder that normally presents in middle-aged adults. Renal infiltration and extramedullary hematopoiesis in renal tissue has been rarely reported. This case report presents a patient with CML and renal insufficiency who developed gross hematuria. Efforts at controlling the hematuria led to a cascade of events propelled by the underlying disorder that ultimately led to a radical nephrectomy, multiorgan failure, and prolonged hospital...

  9. American Ginseng in Treating Patients With Fatigue Caused by Cancer

    Science.gov (United States)

    2016-12-19

    Chronic Myeloproliferative Disorders; Fatigue; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Precancerous Condition; Unspecified Adult Solid Tumor, Protocol Specific

  10. Blood responses under chronic low daily dose gamma irradiation: Pt. 2; Differential preclinical responses of irradiated female dogs in progression to either aplastic anemia or myeloproliferative disease

    Energy Technology Data Exchange (ETDEWEB)

    Seed, T.; Carnes, B.; Tolle, D.; Fritz, T. (Argonne National Lab., IL (United States). Biological and Medical Research Div.)

    1993-05-01

    Female beagle dogs were chronically exposed to low daily doses of [sup 60]Co gamma rays and responded in one of three distinct hemopathological patterns. These patterns, reflective of distinct subgroups, were characterized by (a) low radioresistance resulting in progressive hematopoietic suppression, terminal aplastic anemia (AA), and relatively short (<400 days) survival ([sup -]S-AA subgroups); (b) high radioresistance, initially coupled with strong but aberrant regenerative hematopoiesis, and later with the development of myeloproliferative disease (MPD) ([sup +]-R-MPD subgroup); and (c) high radioresistance, coupled with an early phase of strong regenerative hematopoiesis, but later with no myeloproliferative disease ([sup +]R-nonMPD subgroup). In this study, the changes in circulating blood cells levels (granulocytes, monotcytes, erythrocytes, lymphocytes and platelets) were sequentially assessed in time and fitted to a flexible, quadratic-linear-type response model previously developed. The results are consistent with our earlier observations of blood responses of chronically irradiated male dogs, in the subgroups of female dogs prone to specific radiogenic hematopathologies (i.e. AA and MPD) can be readily identified and staged in specific preclinical periods by a series of marked differential blood responses. (Author).

  11. Lympho- and Myeloproliferative Malignancies Occurring in the Same Host: Description of a Nationwide Discovery Cohort

    DEFF Research Database (Denmark)

    Holst, Johanne Marie; Plesner, Trine Lindhardt; Pedersen, Martin Bjerregård

    2017-01-01

    Background: So far, myeloid and lymphoid malignancies have been considered as diseases with distinct pathogenetic mechanisms. However, recent studies (Frederiksen H et al, Blood 2011) have reported an increased risk of lymphoid malignancies in patients with chronic myeloproliferative neoplasms (M...

  12. 3'-Deoxy-3'-[18F] Fluorothymidine PET Imaging in Patients With Cancer

    Science.gov (United States)

    2017-12-05

    Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Unspecified Adult Solid Tumor, Protocol Specific

  13. Atypical Chronic Myelogenous Leukemia

    Science.gov (United States)

    ... myeloproliferative neoplasms, leukemia , and other conditions . Chronic Myelomonocytic Leukemia Key Points Chronic myelomonocytic leukemia is a disease ... chance of recovery) and treatment options. Chronic myelomonocytic leukemia is a disease in which too many myelocytes ...

  14. Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain

    Science.gov (United States)

    2012-08-04

    Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Pain; Precancerous Condition; Unspecified Adult Solid Tumor, Protocol Specific

  15. Methadone, Morphine, or Oxycodone in Treating Pain in Patients With Cancer

    Science.gov (United States)

    2012-11-09

    Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Pain; Precancerous Condition; Unspecified Adult Solid Tumor, Protocol Specific

  16. The Hepatocyte Growth Factor (HGF/Met Axis: A Neglected Target in the Treatment of Chronic Myeloproliferative Neoplasms?

    Directory of Open Access Journals (Sweden)

    Marjorie Boissinot

    2014-08-01

    Full Text Available Met is the receptor of hepatocyte growth factor (HGF, a cytoprotective cytokine. Disturbing the equilibrium between Met and its ligand may lead to inappropriate cell survival, accumulation of genetic abnormalities and eventually, malignancy. Abnormal activation of the HGF/Met axis is established in solid tumours and in chronic haematological malignancies, including myeloma, acute myeloid leukaemia, chronic myelogenous leukaemia (CML, and myeloproliferative neoplasms (MPNs. The molecular mechanisms potentially responsible for the abnormal activation of HGF/Met pathways are described and discussed. Importantly, inCML and in MPNs, the production of HGF is independent of Bcr-Abl and JAK2V617F, the main molecular markers of these diseases. In vitro studies showed that blocking HGF/Met function with neutralizing antibodies or Met inhibitors significantly impairs the growth of JAK2V617F-mutated cells. With personalised medicine and curative treatment in view, blocking activation of HGF/Met could be a useful addition in the treatment of CML and MPNs for those patients with high HGF/MET expression not controlled by current treatments (Bcr-Abl inhibitors in CML; phlebotomy, hydroxurea, JAK inhibitors in MPNs.

  17. The Hepatocyte Growth Factor (HGF)/Met Axis: A Neglected Target in the Treatment of Chronic Myeloproliferative Neoplasms?

    Energy Technology Data Exchange (ETDEWEB)

    Boissinot, Marjorie [Translational Neuro-Oncology Group, Leeds Institute of Cancer and Pathology, University of Leeds, Level 5 Wellcome Trust Brenner Building, St James’s Hospital, Leeds LS9 7TF (United Kingdom); Vilaine, Mathias [Institute of Research on Cancer and Aging (IRCAN), CNRS-Inserm-UNS UMR 7284, U 1081, Centre A. Lacassagne, 33 Avenue Valombrose, Nice 06189 (France); Hermouet, Sylvie, E-mail: sylvie.hermouet@univ-nantes.fr [Centre Hospitalier Universitaire (CHU), Place Alexis Ricordeau, Nantes 44093 (France); Inserm UMR892, Centre de Recherche en Cancérologie Nantes-Angers, Institut de Recherche en Santé, Université de Nantes, 8 quai Moncousu, Nantes cedex 44007 (France)

    2014-08-12

    Met is the receptor of hepatocyte growth factor (HGF), a cytoprotective cytokine. Disturbing the equilibrium between Met and its ligand may lead to inappropriate cell survival, accumulation of genetic abnormalities and eventually, malignancy. Abnormal activation of the HGF/Met axis is established in solid tumours and in chronic haematological malignancies, including myeloma, acute myeloid leukaemia, chronic myelogenous leukaemia (CML), and myeloproliferative neoplasms (MPNs). The molecular mechanisms potentially responsible for the abnormal activation of HGF/Met pathways are described and discussed. Importantly, inCML and in MPNs, the production of HGF is independent of Bcr-Abl and JAK2V617F, the main molecular markers of these diseases. In vitro studies showed that blocking HGF/Met function with neutralizing antibodies or Met inhibitors significantly impairs the growth of JAK2V617F-mutated cells. With personalised medicine and curative treatment in view, blocking activation of HGF/Met could be a useful addition in the treatment of CML and MPNs for those patients with high HGF/MET expression not controlled by current treatments (Bcr-Abl inhibitors in CML; phlebotomy, hydroxurea, JAK inhibitors in MPNs)

  18. A Web-Based Stem Cell Transplant Support System or Standard Care in Young Patients Undergoing Stem Cell Transplant and Their Families

    Science.gov (United States)

    2011-07-11

    Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Neuroblastoma; Ovarian Cancer; Psychosocial Effects of Cancer and Its Treatment; Sarcoma

  19. Myeloproliferative neoplasms: JAK2 signaling pathway as a central target for therapy.

    Science.gov (United States)

    Pasquier, Florence; Cabagnols, Xenia; Secardin, Lise; Plo, Isabelle; Vainchenker, William

    2014-09-01

    The discovery of the JAK2V617F mutation followed by the discovery of other genetic abnormalities allowed important progress in the understanding of the pathogenesis and management of myeloproliferative neoplasms (MPN)s. Classical Breakpoint cluster region-Abelson (BCR-ABL)-negative neoplasms include 3 main disorders: essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF). Genomic studies have shown that these disorders are more heterogeneous than previously thought with 3 main entities corresponding to different gene mutations: the JAK2 disorder, essentially due to JAK2V617F mutation, which includes nearly all PVs and a majority of ETs and PMFs with a continuum between these diseases and the myeloproliferative leukemia (MPL) and calreticulin (CALR) disorders, which include a fraction of ET and PMF. All of these mutations lead to a JAK2 constitutive activation. Murine models either with JAK2V617F or MPLW515L, but also with JAK2 or MPL germ line mutations found in hereditary thrombocytosis, have demonstrated that they are drivers of myeloproliferation. However, the myeloproliferative driver mutation is still unknown in approximately 15% of ET and PMF, but appears to also target the JAK/Signal Transducer and Activator of Transcription (STAT) pathway. However, other mutations in genes involved in epigenetics or splicing also can be present and can predate or follow mutations in signaling. They are involved either in clonal dominance or in phenotypic changes, more particularly in PMF. They can be associated with leukemic progression and might have an important prognostic value such as additional sex comb-like 1 mutations. Despite this heterogeneity, it is tempting to target JAK2 and its signaling for therapy. However in PMF, Adenosine Tri-Phosphate (ATP)-competitive JAK2 inhibitors have shown their interest, but also their important limitations. Thus, other approaches are required, which are discussed in this review. Copyright © 2014

  20. Non-Ablative Allo HSCT For Hematologic Malignancies or SAA

    Science.gov (United States)

    2011-12-07

    Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Diseases; Precancerous/Nonmalignant Condition; Small Intestine Cancer

  1. Presence of Donor-Derived DNA in Semen Samples From Cancer Survivors Who Underwent Donor Stem Cell Transplant

    Science.gov (United States)

    2014-12-08

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

  2. Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer

    Science.gov (United States)

    2017-11-27

    Chronic Myeloproliferative Disorders; Diamond-blackfan Anemia; Fanconi Anemia; Graft Versus Host Disease; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Diseases

  3. Lactobacillus in Preventing Infection in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer or Myelodysplastic Syndrome

    Science.gov (United States)

    2017-02-02

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

  4. Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative disorder.

    LENUS (Irish Health Repository)

    2012-01-31

    BACKGROUND: Mesenteric venous thrombosis (MVT) is a rare but potentially fatal cause of mesenteric ischaemia. It presents insidiously and often diagnosis is made at emergency surgery. In half of the cases MVT develops without a causative factor, while in cases in which a pro-thrombotic state is found to exist MVT may be the first clinically detected consequence of that state. The myeloproliferative disorders (MPD) are known to contribute to the development of pro-thrombotic states. Recently, the JAK2 V617F mutation has been associated with the MPDs. CONCLUSION: We describe a case of MVT occurring secondary to an unsuspected MPD, in which the patient was subsequently found to carry this mutation. We highlight the necessity to screen for this mutation in cases of intra-abdominal thromboses so that appropriate systemic anticoagulation may be instituted, and the patient may be followed so as to detect the development of an overt MPD.

  5. Neurological Findings in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Semra Paydas

    2013-04-01

    Full Text Available Myeloproliferative neoplasms (MPN arise from genetic deficiencies at the level of pluripotent stem cells. Each of these neoplasms is a clonal stem cell disorder with specific phenotypic, genetic and clinical properties. Age is one of the most important factors in the development of symptoms and complications associated with MPNs.High white blood cell counts in chronic myelocytic leukemia also known as leukocytosis may lead to central nervous system findings. Tumors developing outside the bone marrow named as extramedullary myeloid tumors (EMMT could be detected at the initial diagnosis or during the prognosis of the disease, which may cause neurological symptoms due to pressure of leukemic cell mass on various tissues along with spinal cord. Central nervous system involvement and thrombocytopenic hemorrhage may lead to diverse neurological symptoms and findings.Transient ischemic attack and thrombotic stroke are the most common symptoms in polycythemia vera. Besides thrombosis and hemorrage, transformation to acute leukemia can cause neurological symptoms and findings. Transient ischemic attack, thrombotic stroke and specifically hemorrage can give rise to neurological symptoms similar to MPN in essential thrombocytosis.Extramedullary hematopoiesis refers to hematopoietic centers arise in organ/tissues other than bone marrow in myelofibrosis. Extramedullar hematopoietic centers may cause intracranial involvement, spinal cord compression, seizures and hydrocephalia. Though rare, extramedullary hematopoiesis can be detected in cranial/spinal meninges, paraspinal tissue and intracerebral regions. Extramedullary hematopoiesis has been reported in peripheral neurons, choroid plexus, pituitary, orbits, orbital and lacrimal fossa and in sphenoidal sinuses. [Cukurova Med J 2013; 38(2.000: 157-169

  6. Myeloproliferative disorders in patients with rheumatoid arthritis treated with total body irradiation

    International Nuclear Information System (INIS)

    Urowitz, M.B.; Rider, W.D.

    1985-01-01

    Four patients with refractory rheumatoid arthritis were treated with total body irradiation administered in two sittings, 300 to 400 rads to each half of the body. All four patients had taken antimetabolites prior to receiving total body irradiation, and two continued to use them after total body irradiation. Two patients had taken alkylating agents before, and one had used them after total body irradiation. All patients showed clinical improvement. However, in two patients myeloproliferative disorders developed: a myelodysplastic preleukemia at 40 months after total body irradiation in one and acute myelogenous leukemia at 25 months in the other. Total body irradiation differs from total nodal irradiation in the total dose of irradiation (300 to 400 rads versus 2,000 to 3,000), and in the duration of the therapy (two sittings versus treatment over several weeks to months). Furthermore, the patients in the total body irradiation study frequently used cytotoxic drugs before and/or after irradiation, whereas in one total nodal irradiation study, azathioprine (2 mg/kg per day or less) was permitted, but no other cytotoxic agents were allowed. Rheumatologists may therefore face a binding decision when deciding to treat a patient with rheumatoid arthritis with either a cytotoxic drug or irradiation

  7. [Differential diagnosis of chronic myeloic leucemia in infancy (author's transl)].

    Science.gov (United States)

    Binder, C; Pichler, E; Radaskiewicz, T; Scheibenreiter, S

    1976-01-01

    A 3 months old girl presented with significant enlargement of liver, spleen and lymphnodes, with moderate anemia, thrombopenia and leucocytosis. In the differential count there was a shift to the left and an increase of monocyte-like cells (35%). Differential diagnosis included leucemoid reaction, infectious mononucleosis, myelo-proliferative disorder with a missing C chromosome and chronic myeloid leucemia. Clinical symptoms, cytochemistry and caryotype of bone marrow cells suggested infantile chronic myeloic leucemia and normal ALP index and possibly normal HbF. Treatment with 6-mercaptopurine was followed by partial remission. The therapeutic consequences of exact differential diagnosis are discussed.

  8. Frequency of janus associated kinase 2 (jak2) mutation in patients of bcr-abl negative myeloproliferative neoplasms

    International Nuclear Information System (INIS)

    Sadiq, M.A.; Ahmed, S.; Ali, N.

    2013-01-01

    To determine the frequency of Janus associated kinase 2 mutation in the patients of BCR-ABL negative classical myeloproliferative neoplasms. Study Design: Cross-sectional descriptive study Place and Duration of Study: Molecular Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi from Jul 2011 to Jul 2012. Patients and Methods: Ninety three consecutive patients of Polycythaemia vera (PV), Essential thrombocythaemia (ET) and Idiopathic myelofibrosis (IMF) diagnosed by the conventional haematological criteria were included in the study. All patients were screened for G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by an allele specific PCR. Results: Out of the 93 myeloproliferative neoplasm (MPN) patients, 33(35%) had polycythaemia vera, 36(39%) had essential thrombocythaemia and 24(26%) had idiopathic myelofibrosis. JAK2 mutation was seen in 64/93 (69%) patients including 33/33(100%) in PV, 19/36(52.6%) in ET and 12/24(50%) in IMF. Conclusion: Classical myeloproliferative neoplasms are an important group of heamatological disorder in our country. JAK2 gene mutation is seen in significant proportion of these disorders (69%). JAK2 mutation analysis can be used to differentiate between polycythemia vera and secondary polycythemia in most cases with near certainty, where it was found in 100% of the cases. (author)

  9. Hypothetical atopic dermatitis-myeloproliferative neoplasm (AD-MPN syndrome

    Directory of Open Access Journals (Sweden)

    Toshiaki eKawakami

    2015-08-01

    Full Text Available Atopic dermatitis (AD is a chronic inflammatory skin disease. Myeloproliferative neoplasms (MPNs are hematopoietic malignancies caused by uncontrolled proliferation of hematopoietic stem/progenitor cells. Recent studies have described several mutant mice exhibiting both AD-like skin inflammation and MPN. Common pathways for skin inflammation encompass overexpression of thymic stromal lymphopoietin and reduced signaling of epidermal growth factor receptor in the epidermis, while overproduction of granulocyte-colony stimulating factor by keratinocytes and constitutive activation of Stat5 in hematopoietic stem cells are important for the development of MPN. The murine studies suggest the existence of a similar human disease tentatively termed the AD-MPN syndrome.

  10. Chronic complex dissociative disorders and borderline personality disorder: disorders of emotion dysregulation?

    Science.gov (United States)

    Brand, Bethany L; Lanius, Ruth A

    2014-01-01

    Emotion dysregulation is a core feature of chronic complex dissociative disorders (DD), as it is for borderline personality disorder (BPD). Chronic complex DD include dissociative identity disorder (DID) and the most common form of dissociative disorder not otherwise specified (DDNOS, type 1), now known as Other Specified Dissociative Disorders (OSDD, type 1). BPD is a common comorbid disorder with DD, although preliminary research indicates the disorders have some distinguishing features as well as considerable overlap. This article focuses on the epidemiology, clinical presentation, psychological profile, treatment, and neurobiology of chronic complex DD with emphasis placed on the role of emotion dysregulation in each of these areas. Trauma experts conceptualize borderline symptoms as often being trauma based, as are chronic complex DD. We review the preliminary research that compares DD to BPD in the hopes that this will stimulate additional comparative research.

  11. Clinicopathological features of transient myeloproliferative syndrome and congenital leukaemia

    International Nuclear Information System (INIS)

    Sajid, N.; Ahmed, N.; Mahmood, S.

    2010-01-01

    The objectives of the study were to determine the spectrum of the clinical and pathological findings, the management and prognosis of patients of transient myeloproliferative syndrome (TMS) and congenital leukaemia. Study Design: Case series. Place and Duration of Study: The study was conducted over a period of 8 years, from January 2000 to December 2007, at the Children's Hospital and the Institute of Child Health, Lahore. Methodology: Suspected patients presenting with fever, pallor, bruises and hepatosplenomegaly and diagnosed as either transient myeloproliferative disorder or congenital leukaemia were studied. The complete blood count, reticulocyte count, leukocyte alkaline phosphatase score, liver function tests, karyotyping studies and bone marrow aspiration biopsy were performed in all of those patients. Management and out come was noted. Results were described as frequency percentages. Results: Out of 10,000 patients presenting during this period, 24 patients were diagnosed as either of transient myeloproliferative syndrome or congenital leukaemia. Fifteen of these were diagnosed as patients of TMS and 9 as patients of congenital leukaemia. Down syndrome (DS) was diagnosed in 75% of these patients. TMS patients were put on supportive treatment and recovered spontaneously. One DS patient with congenital leukaemia went into spontaneous remission and 2 of DS patients with congenital leukaemia responded to chemotherapy while rest of them either died or lost to follow-up. Conclusion: TMS and congenital leukaemia were not very uncommon in the studied population. Majority had Down syndrome. It is important to differentiate their clinical and pathological presentations for proper management. TMS may resolve with supportive treatment while congenital leukaemia is a fatal condition requiring chemotherapy. (author)

  12. Aprepitant, Granisetron, & Dexamethasone in Preventing Nausea & Vomiting in Pts. Receiving Cyclophosphamide Before a Stem Cell Transplant

    Science.gov (United States)

    2016-02-12

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

  13. Blood responses under chronic low daily dose gamma irradiation: Pt. 1; Differential preclinical responses of irradiated male dogs in progression to either aplastic anemia or myeloproliferative disease

    Energy Technology Data Exchange (ETDEWEB)

    Seed, T.M.; Carnes, B.A.; Tolle, D.V.; Fritz, T.E. (Argonne National Lab., IL (USA))

    1989-01-01

    Male beagles chronically exposed to low daily doses of {sup 60}Co {gamma} rays show one of three hematopoietic patterns, which reflect three different distinctly responding subgroups: (1) low radioresistance with progressing aplastic anemia and shortened survival ({sup -S}-AA subgroup); (2) high radioresistance with a complex of progressing myeloproliferative disorders ({sup +}R-MPD group); or (3) high radioresistance with other nonMPD syndromes ({sup +}R-nonMPD group). Blood cell levels (granulocytes, monocytes, erythrocytes, lymphocytes, and platelets) were assessed and fitted to a flexible polynomial spline model. Results showed that relative to the overall magnitude of blood cell loss as well as to the maximum rate of suppression during the initial phase, the subgroups were generally ranked {sup -}S-AA >> {sup +}R-MPD > {sup +}R-nonMPD. Relative to the overall strength of the recovery response, the subgroups were generally ranked {sup +}R-MPD > {sup +}R-nonMPD >>> {sup -}S-AA. In terms of overall maintenance levels of circulating blood cells during the recovery phase, however, the {sup +}R-nonMPD subgroup consistently exhibited stronger responses than the {sup +}R-MPD subgroup. These results support our contention that selected subgroups of dogs have strong propensities to specific hematopathologies (i.e. aplastic anemia and myeloid leukemia) under chronic irradiation and that these pathology-prone animals exhibit a series of marked differential hematopoietic responses during early preclinical phases, which serve effectively to prognosticate subsequent pathological progression. (author).

  14. Tyrosine Kinase Inhibitor Treatment for Newly Diagnosed Chronic Myeloid Leukemia.

    Science.gov (United States)

    Radich, Jerald P; Mauro, Michael J

    2017-08-01

    Chronic myeloid leukemia (CML) is a myeloproliferative disorder that accounts for approximately 10% of new cases of leukemia. The introduction of tyrosine kinase inhibitors has led to a reduction in mortalities. Thus, the estimated prevalence of CML is increasing. The National Comprehensive Cancer Network and the European Leukemia Net guidelines incorporate frequent molecular monitoring of the fusion BCR-ABL transcript to ensure that patients reach and keep treatment milestones. Most patients with CML are diagnosed in the chronic phase, and approximately 10% to 30% of these patients will at some time in their course meet definition criteria of resistance to imatinib. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. No Evidence for JAK2(V617F) Mutation in Monoclonal B Cells in 2 Patients with Polycythaemia Vera and Concurrent Monoclonal B Cell Disorder

    NARCIS (Netherlands)

    Stijnis, C.; Kroes, W. G. M.; Balkassmi, S.; Marijt, E. W. A.; van Rossum, A. P.; Bakker, E.; Vlasveld, L. T.

    2012-01-01

    Occurrence of Philadelphia chromosome-negative myeloproliferative neoplasms (Ph- MPN) and lymphoproliferative disorders, like B cell chronic lymphocytic leukaemia (B-CLL), in the same patient is rare. JAK2(V617F) mutation was recently introduced as a powerful diagnostic tool for Ph- MPN. JAK2(V617F)

  16. Role of JAK-STAT signaling in the pathogenesis of myeloproliferative disorders.

    Science.gov (United States)

    Levine, Ross L; Wernig, Gerlinde

    2006-01-01

    The identification of JAK2V617F mutations in polycythemia vera (PV), essential thrombocytosis (ET), and myelofibrosis (MF) represents an important advance in our understanding of these myeloproliferative disorders (MPD). Most, if not all, patients with PV and a significant number of patients with ET and MF are JAK2V617F positive, and the mutation likely arises in the hematopoietic stem cell compartment. JAK2V617F is a constitutively active tyrosine kinase that is able to activate JAK-STAT signaling most efficiently when co-expressed with the erythropoietin receptor (EPOR), the thrombopoietin receptor (MPL), or the granulocyte colony-stimulating factor receptor (GCSFR). Data from murine models supports the central role of JAK2V617F in the pathogenesis of MPD, as expression of JAK2V617F in a bone marrow transplantation assay results in polycythemia and myelofibrosis in recipient mice. Activation of JAK-STAT signaling by JAK2V617F in some, but not all MPD patients with ET and MF led to the identification of the constitutively active MPLW515L allele in ET and MF. Small molecule inhibitors of JAK-STAT signaling are currently being developed, which offer potential for molecularly targeted therapy for patients with PV, ET, and MF. Despite these advances, many questions remain regarding the role of a single disease allele in three phenotypically distinct MPD, the potential clinical efficacy of JAK2 inhibitors, and the identity of oncogenic alleles in JAK2V617F/MPLW515-negative MPD.

  17. Navigating the evolving paradigms in the diagnosis and treatment of myeloproliferative disorders.

    Science.gov (United States)

    Mesa, Ruben A

    2007-01-01

    The diagnosis and management of the BCR-ABL-negative myeloproliferative disorders (MPDs) of polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are at an explosive crossroads of scientific investigation and evolving paradigms since the discovery of the tyrosine kinase-activating JAK2V617F mutation in 2005. Additional discovery of relevant molecular lesions (JAK2 exon 12 mutations and c-MplW515L/K) have only further enriched our understanding of MPD pathogenesis. The improved diagnostic certainty these molecular markers provide have resulted in the modification, and simplification, of the World Health Organization (WHO) diagnostic algorithms for MPDs. Despite these scientific advances, however, the initial management of MPDs continues to rely upon a risk-based strategy to minimize the risk of vascular events with control of erythrocytosis, targeted antiplatelet therapy, and risk-based myelosuppressive therapy. No current medical therapy has altered the natural trend of the MPDs to lead to overt severe myelofibrosis or acute leukemia. Investigations into targeted therapies for MPDs are proceeding at a brisk pace with agents aimed at immunomodulation, decreasing marrow stromal reaction to the aberrant clone, DNA hypomethylation, or the inhibition of tyrosine kinases. Specific inhibition of JAK2 itself appears promising by in vitro investigations, and clinical trials with multiple agents are planned to commence enrollment in 2007. The potential impact of JAK2 inhibitors on the manifestations of the MPDs is unclear, but is awaited with great interest.

  18. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2

    NARCIS (Netherlands)

    Nangalia, J.; Massie, C.E.; Baxter, E.J.; Nice, F.L.; Gundem, G.; Wedge, D.C.; Avezov, E.; Li, J.; Kollmann, K.; Kent, D.G.; Aziz, A.; Godfrey, A.L.; Hinton, J.; Martincorena, I.; Loo, P. Van; Jones, A.V.; Guglielmelli, P.; Tarpey, P.; Harding, H.P.; Fitzpatrick, J.D.; Goudie, C.T.; Ortmann, C.A.; Loughran, S.J.; Raine, K.; Jones, D.R.; Butler, A.P.; Teague, J.W.; O'Meara, S.; McLaren, S.; Bianchi, M.; Silber, Y.; Dimitropoulou, D.; Bloxham, D.; Mudie, L.; Maddison, M.; Robinson, B.; Keohane, C.; Maclean, C.; Hill, K.; Orchard, K.; Tauro, S.; Du, M.Q.; Greaves, M.; Bowen, D.; Huntly, B.J.; Harrison, C.N.; Cross, N.C.; Ron, D.; Vannucchi, A.M.; Papaemmanuil, E.; Campbell, P.J.; Green, A.R.

    2013-01-01

    BACKGROUND: Somatic mutations in the Janus kinase 2 gene (JAK2) occur in many myeloproliferative neoplasms, but the molecular pathogenesis of myeloproliferative neoplasms with nonmutated JAK2 is obscure, and the diagnosis of these neoplasms remains a challenge. METHODS: We performed exome sequencing

  19. The role of JAK1/2 inhibitors in the treatment of chronic myeloproliferative neoplasms.

    Science.gov (United States)

    Keohane, Clodagh; Mesa, Ruben; Harrison, Claire

    2013-01-01

    In 2005, the description of the JAK2V617F mutation for the first time provided a molecular key to enable more rapid diagnosis and target for novel therapeutics in the myeloproliferative neoplasms. In 2007, the first-in-class agent INC18424, ruxolitinib, JAKafi, or JAKAVI was first tested in patients with intermediate-risk 2 or high-risk myelofibrosis regardless of whether they possessed the JAK2V617F mutation. Patients treated with this agent had major reduction in splenomegaly as well as impressive reduction, and in some cases resolution, of symptoms. This study was followed by the two Controlled Myelofibrosis Study with Oral JAK Inhibitor Therapy (COMFORT) trials (the first-ever phase III trials in myelofibrosis), which confirmed results in these aspects were superior to either placebo or standard care, and updated results show a survival advantage with this therapy. This paper discusses these results and data from other JAK inhibitors while speculating on the future of these therapies. It also reflects on the fact that the true targets and agents' mode of action are uncertain. Unlike targeted therapy for chronic myeloid leukemia (CML), these agents do not deliver molecular remission, and it is not clear whether their predominant benefit is mediated via JAK2, JAK1, or both. Nonetheless, the advent of the JAK inhibitor is a welcome advance and has made a dramatic improvement to the therapeutic landscape of these conditions.

  20. Reduced Intensity Preparative Regimen Followed by Stem Cell Transplant (FAB)

    Science.gov (United States)

    2016-03-29

    Myelodysplastic and Myeloproliferative Disorders; Acute Myelogenous Leukemia; Acute Lymphoblastic Leukemia; Chronic Myelogenous Leukemia; Multiple Myeloma; Plasma Cell Dyscrasia; Lymphoproliferative Disorders; Hematologic Diseases

  1. Molecular mechanisms associated with leukemic transformation of MPL-mutant myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Beer, Philip A; Ortmann, Christina A; Stegelmann, Frank

    2010-01-01

    Somatic activating mutations in MPL, the thrombopoietin receptor, occur in the myeloproliferative neoplasms, although virtually nothing is known about their role in evolution to acute myeloid leukemia. In this study, the MPL T487A mutation, identified in de novo acute myeloid leukemia......, was not detected in 172 patients with a myeloproliferative neoplasm. In patients with a prior MPL W515L-mutant myeloproliferative neoplasm, leukemic transformation was accompanied by MPL-mutant leukemic blasts, was seen in the absence of prior cytoreductive therapy and often involved loss of wild-type MPL...

  2. Drugs Approved for Myeloproliferative Neoplasms

    Science.gov (United States)

    This page lists cancer drugs approved by the Food and Drug Administration (FDA) for myeloproliferative neoplasms. The list includes generic names, brand names, and common drug combinations, which are shown in capital letters. The drug names link to NCI's Cancer Drug Information summaries.

  3. Nuclear magnetic resonance investigation of erythrocyte membranes in chronic myeloproliferative disorders.

    Science.gov (United States)

    Morariu, V V; Petrov, L

    1986-07-01

    The temperature dependence of the apparent water diffusional exchange through erythrocyte membranes in cases of policitemia vera, chronic granulocytic leukemia and primary myelofibrosis was measured by using a nuclear magnetic resonance method in the presence of Mn2+. The thermal transition shifted to lower temperatures in all cases, regardless of the stage of the disease, suggesting a structural alteration of the membrane. The shift of transition indirectly suggests a lower penetration of the erythrocytes by Mn2+. The water exchange time at 37 degrees C also increased, mainly in the blast crisis; it seems to have a prognostic value of some clinical interest. No simple correlation of the water exchange and the following clinical investigations was observed: the white count, the percentage of promyelocites and myeloblasts, the sedimentation rate of blood, the osmotic fragility of erythrocytes, the total concentration of proteins, albumin and immunoglobulins, respectively, in plasma.

  4. Aortic thrombus in a patient with myeloproliferative thrombocytosis, successfully treated by pharmaceutical therapy: a case report

    Directory of Open Access Journals (Sweden)

    Imai Norikazu

    2010-07-01

    Full Text Available Abstract Introduction Thrombosis in myeloproliferative thrombocytosis occurs usually in the microvessels and medium-sized arteries and veins and only rarely in the aorta. Aortic thrombosis is usually treated with thrombectomy. Reported here is a rare case that was treated pharmacologically. Case presentation A 60-year-old Japanese woman presented with numbness of both lower extremities. Her platelet count was 1787 × 103/μl. Through bone marrow examination, we diagnosed her condition as myelodysplastic and/or myeloproliferative disorder-unclassifiable. Abdominal ultrasonography and computed tomographic scan revealed aortic thrombosis. Her platelet count was controlled with hydroxyurea and ranimustine. Aspirin and ticlopidine improved the numbness in both lower limbs on the second day. Aortic thrombosis was not observed in a computed tomographic scan on the seventh day. Conclusion For aortic thrombosis, surgical management is usually adopted, but pharmacological management is also an option because of its immediate curative effects.

  5. Molecular diagnostics of myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Langabeer, S. E.; Andrikovics, H.; Asp, J.

    2015-01-01

    Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been...

  6. Sleep disorders and chronic kidney disease.

    Science.gov (United States)

    Maung, Stephanie C; El Sara, Ammar; Chapman, Cherylle; Cohen, Danielle; Cukor, Daniel

    2016-05-06

    Sleep disorders have a profound and well-documented impact on overall health and quality of life in the general population. In patients with chronic disease, sleep disorders are more prevalent, with an additional morbidity and mortality burden. The complex and dynamic relationship between sleep disorders and chronic kidney disease (CKD) remain relatively little investigated. This article presents an overview of sleep disorders in patients with CKD, with emphasis on relevant pathophysiologic underpinnings and clinical presentations. Evidence-based interventions will be discussed, in the context of individual sleep disorders, namely sleep apnea, insomnia, restless leg syndrome and excessive daytime sleepiness. Limitations of the current knowledge as well as future research directions will be highlighted, with a final discussion of different conceptual frameworks of the relationship between sleep disorders and CKD.

  7. JAK2 inhibitor therapy in myeloproliferative disorders: rationale, preclinical studies and ongoing clinical trials.

    Science.gov (United States)

    Pardanani, A

    2008-01-01

    The recent identification of somatic mutations such as JAK2V617F that deregulate Janus kinase (JAK)-signal transducer and activator of transcription signaling has spurred development of orally bioavailable small-molecule inhibitors that selectively target JAK2 kinase as an approach to pathogenesis-directed therapy of myeloproliferative disorders (MPD). In pre-clinical studies, these compounds inhibit JAK2V617F-mediated cell growth at nanomolar concentrations, and in vivo therapeutic efficacy has been demonstrated in mouse models of JAK2V617F-induced disease. In addition, ex vivo growth of progenitor cells from MPD patients harboring JAK2V617F or MPLW515L/K mutations is also potently inhibited. JAK2 inhibitors currently in clinical trials can be grouped into those designed to primarily target JAK2 kinase (JAK2-selective) and those originally developed for non-MPD indications, but that nevertheless have significant JAK2-inhibitory activity (non-JAK2 selective). This article discusses the rationale for using JAK2 inhibitors for the treatment of MPD, as well as relevant aspects of clinical trial development for these patients. For instance, which group of MPD patients is appropriate for initial Phase I studies? Should JAK2V617F-negative MPD patients be included in the initial studies? What are the likely consequences of 'off-target' JAK3 and wild-type JAK2 inhibition? How should treatment responses be monitored?

  8. Differential labeling of platelet alpha 2 adrenoceptors by 3H dihydroergocryptine and 3H yohimbine in patients with myeloproliferative disorders

    International Nuclear Information System (INIS)

    Swart, S.S.; Wood, J.K.; Barnett, D.B.

    1985-01-01

    Platelet alpha adrenoceptor status was examined using the radioligands 3 H-yohimbine ( 3 H-YOH) and 3 H-dihydroergocryptine ( 3 H-DHE) in 14 patients with myeloproliferative disorder (MPD) and 10 normal controls. Platelets from normal controls and MPD patients sensitive to adrenaline induced aggregation exhibited approximately 50% more binding sites identified by 3 H-DHE than 3 H-YOH, whereas MPD platelets insensitive to adrenaline showed selective loss of these extra 3 H-DHE sites. In functional studies after 30 minutes preincubation with the unlabelled antagonists, DHE was more potent than YOH at inhibiting adrenaline induced aggregation in normal platelets. In addition, the affinity constant for DHE was virtually identical in binding and functional experiments, whereas for YOH the affinity constant for binding was approximately 10 fold more potent than that for aggregation. These results suggest that the alpha adrenoceptor binding site on human platelets labelled by 3 H-DHE may be of more functional relevance than that labelled by 3 H-YOH alone

  9. Polycythemia vera

    Science.gov (United States)

    Primary polycythemia; Polycythemia rubra vera; Myeloproliferative disorder; Erythremia; Splenomegalic polycythemia; Vaquez's disease; Osler's disease; Polycythemia with chronic cyanosis; Erythrocytosis ...

  10. Association Of Tnf Polymorphisms With Jak2 (v617f) Myeloproliferative Neoplasms In Brazilian Patients.

    OpenAIRE

    Macedo, Luciana Conci; de Cesare Quintero, Fernanda; Pagliari-E-Silva, Sara; Pagnano, Katia Borgia Barbosa; Rodrigues, Camila; de Alencar, Josiane Bazzo; Sell, Ana Maria; Visentainer, Jeane Eliete Laguila

    2016-01-01

    The classical chromosome Philadelphia-negative myeloproliferative neoplasms (MPNs) are a group of disorders that share clinical, hematological, and histological features. Proinflammatory cytokines such as tumor necrosis factor-α (TNF-α) are elevated in patients with MPN. The aim of this study was to verify the association between the polymorphisms of TNF gene (-308G/A and -238 G/A) in BCR-ABL-negative MPN in our population. Blood samples obtained from MPN patients were genotyped for the JAK2V...

  11. Psychiatric co-morbidity in chronic pain disorder

    International Nuclear Information System (INIS)

    Yaqoob, N.; Sharif, A.; Shoaib, A.

    2013-01-01

    Objective: To determine the psychiatric co-morbidity in patients with chronic pain disorder in hospital setting. Design: Cross sectional descriptive study. Place and duration of study: This study was conducted at Combined Military Hospital (CMH) Okara from June 2011 to May 2012. Patients and Methods: A purposive sample of 400 patients (males=117; females=283) gathered from pain clinic and other outpatient departments of the hospital and were interviewed in detail and Present State Examination was carried out. Demographic variables were scored using descriptive statistics and results were analyzed using correlation methods. Results: It was revealed that psychiatric illness in overall sample prevailed among 266 participants (67%). Among which 164 participants (62%) were diagnosed with depression, 67 patients (25.2%) of chronic pain were diagnosed with anxiety disorders, 28 patients (11%) with adjustment disorder and 1.5% and 1.1% diagnosed with drug dependence and somatization disorder, respectively. Conclusion: Psychiatric co-morbidity especially the incidence of depression, anxiety and adjustment disorders were high amongst patients suffering from chronic pain disorder. (author)

  12. Monoclonal Antibody Therapy in Treating Patients With Advanced Cancer

    Science.gov (United States)

    2010-03-12

    Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Precancerous/Nonmalignant Condition; Unspecified Adult Solid Tumor, Protocol Specific

  13. Social position of adolescents with chronic digestive disorders.

    NARCIS (Netherlands)

    Calsbeek, H.; Rijken, M.; Bekkers, M.J.T.M.; Kerssens, J.J.; Dekker, J.; Berge Henegouwen, G.P. van

    2002-01-01

    OBJECTIVE : To investigate the consequences of having a chronic digestive disorder on the social position of adolescents. METHODS : Five diagnostic groups, including inflammatory bowel disease (IBD), chronic liver diseases, congenital digestive disorders, coeliac disease and food allergy (total n =

  14. Social position of adolescents with chronic digestive disorders

    NARCIS (Netherlands)

    Calsbeek, H; Rijken, M; Bekkers, MJTM; Kerssens, JJ; Dekker, J; Henegouwen, GPV

    Objective To investigate the consequences of having a chronic digestive disorder on the social position of adolescents. Methods Five diagnostic groups, including inflammatory bowel disease (I BID), chronic liver diseases, congenital digestive disorders, coeliac disease and food allergy (total n =

  15. Synchronous myeloproliferative and inflammatory disease of the nasal cavity and paranasal sinuses: an interesting differential diagnostic problem.

    Science.gov (United States)

    László, Iván; Gábor, Vass; Zsolt, Bella; László, Tiszlavicz; József, Jóri

    2009-09-01

    The authors present a case of synchronous manifestation of a myeloproliferative--extramedullary plasmocytoma--and a chronic inflammatory disease of the nose and the paranasal sinuses. They emphasise the importance of imaging techniques and immunohistochemistry in the differential diagnosis. They discuss on the basis of published articles the new classification, clinical manifestations, diagnostic and therapeutical approaches of this tumour belonging to the group of monoclonal gammopathies, which originates from an abnormal proliferation of mature B-lymphocytes, and is a rarity in the literature even nowadays.

  16. Self-Reported Acute and Chronic Voice Disorders in Teachers.

    Science.gov (United States)

    Rossi-Barbosa, Luiza Augusta Rosa; Barbosa, Mirna Rossi; Morais, Renata Martins; de Sousa, Kamilla Ferreira; Silveira, Marise Fagundes; Gama, Ana Cristina Côrtes; Caldeira, Antônio Prates

    2016-11-01

    The present study aimed to identify factors associated with self-reported acute and chronic voice disorders among municipal elementary school teachers in the city of Montes Claros, in the State of Minas Gerais, Brazil. The dependent variable, self-reported dysphonia, was determined via a single question, "Have you noticed changes in your voice quality?" and if so, a follow-up question queried the duration of this change, acute or chronic. The independent variables were dichotomized and divided into five categories: sociodemographic and economic data; lifestyle; organizational and environmental data; health-disease processes; and voice. Analyses of associated factors were performed via a hierarchical multiple logistic regression model. The present study included 226 teachers, of whom 38.9% reported no voice disorders, 35.4% reported an acute disorder, and 25.7% reported a chronic disorder. Excessive voice use daily, consuming more than one alcoholic drink per time, and seeking medical treatment because of voice disorders were associated factors for acute and chronic voice disorders. Consuming up to three glasses of water per day was associated with acute voice disorders. Among teachers who reported chronic voice disorders, teaching for over 15 years and the perception of disturbing or unbearable noise outside the school were both associated factors. Identification of organizational, environmental, and predisposing risk factors for voice disorders is critical, and furthermore, a vocal health promotion program may address these issues. Copyright © 2016 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

  17. [Hungarian Philadelphia negative chronic myeloproliferative neoplasia registry. Evaluation of the Polycythemia vera patients].

    Science.gov (United States)

    Dombi, Péter; Illés, Árpád; Demeter, Judit; Homor, Lajos; Simon, Zsófia; Kellner, Ádám; Karádi, Éva; Valasinyószki, Erika; Udvardy, Miklós; Egyed, Miklós

    2017-06-01

    Intruduction and aim: The Hungarian National Registry for Philadelphia chromosome negative myeloproliferative neoplasms has been developed. The aim of the recent study is to assess the clinical characteristics of Hungarian patients with polycythemia vera. Data of 351 JAK2 V617F and exon 12 mutation positive polycythemia vera patients were collected online from 15 haematology centres reporting epidemiologic, clinical characteristics, diagnostic tools, therapeutic interventions, thromboembolic complications, disease transformations. Vascular events prior to and after diagnosis were evaluated upon the Landolfi risk assessment scale. 116 thromboembolic events were reported in 106 PV patients prior to diagnosis and 152 occasions in 102 patients during follow-up. The frequency of major arterial events were significantly reduced (ppolycythemia vera. The Landolfi risk stratification was proven to be useful. Based on evaluated data, accuracy of diagnostic criteria and compliance to risk-adapted therapeutic guidelines are needed. Orv Hetil. 2017; 158(23): 901-909.

  18. Hemorrhagic and thrombotic complications in patients with myeloproliferative diseases

    Directory of Open Access Journals (Sweden)

    Carla Valladares Vignal

    Full Text Available OBJECTIVE: To correlate the incidence of hemorrhage and thrombosis to bleeding time (BT and platelet aggregation in 27 consecutive patients with myeloproliferative diseases (MPD. DESIGN: Retrospective study. SETTING: Public tertiary referral center. PATIENTS: Eighteen patients with chronic myelogenous leukemia (CML, 5 with polycytemia vera (PV, 2 with essential thrombocytemia (ET and 2 with idiopathic myelofibrosis (MF. Duke's BT and epinephrine-induced platelet aggregation were performed on the patients and on 10 healthy individuals. RESULTS: Eleven patients presented symptoms (41 %: 9 with hemorrhage (33% and 5 with thrombosis (19%.There were less symptomatic patients in the CML group (28% than in the other MPD (67%, without statistical significance (Fisher, p=0.06. Duke's BT was longer in symptomatic patients (Mann-Whitney, p<0.05. Platelet aggregation was abnormal in 7 patients (26% and 71% of them were symptomatic (Fisher, p = 0.07. CONCLUSIONS: The high incidence of bleeding and thrombosis in patients with MPD was related to prolonged BT, but not to platelet aggregation abnormalities.

  19. Myeloproliferative neoplasms in five multiple sclerosis patients

    DEFF Research Database (Denmark)

    Thorsteinsdottir, Sigrun; Bjerrum, Ole Weis

    2013-01-01

    The concurrence of myeloproliferative neoplasms (MPNs) and multiple sclerosis (MS) is unusual. We report five patients from a localized geographic area in Denmark with both MS and MPN; all the patients were diagnosed with MPNs in the years 2007-2012. We describe the patients' history and treatment...

  20. Biological Therapy Following Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Cancer

    Science.gov (United States)

    2013-03-25

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

  1. The second international congress on myeloproliferative and myelodysplastic syndromes.

    Science.gov (United States)

    Silver, R T; Bennett, J M; Deininger, M; Feldman, E; Rafii, S; Silverstein, R L; Solberg, L A; Spivak, J L

    2004-09-01

    This meeting was convened by Richard T. Silver, M.D. and co-chaired by Jerry L. Spivak, M.D. It was held from 16 to 18 October 2003 in New York City, New York, USA. Thirty-nine invited speakers from nine different countries participated in the conference. There were more than 350 attendees. There were formal presentations and discussions on biology, clinical aspects, and management of patients with these diverse bone marrow stem cell disorders linked by a variable progression to acute myeloid leukemia. Of considerable interest, a clinical symposium exclusively for patients was held the day preceding the meeting at which John Bennett, Tiziano Barbui, Richard Silver, Jerry Spivak, and Ayalew Tefferi spoke on various topics pertaining to these diseases. This proved to be highly informative to the patients who reported that they enjoyed the program immensely. This was sponsored by the Cancer Research & Treatment Fund, Inc. Representatives of the Myelodysplasia Foundation were also present. This meeting report provides a summary of five different sections prepared by one or more of the session chairs. The keynote address was given by Shahin Rafii (Cornell Medical Center). Most appropriately, this talk focused on the expression and activation of angiogenic factors which play a crucial role in the progression of both myeloproliferative disorders and myelodysplastic syndromes (MDS). Among the known factors, vascular endothelial growth tyrosine kinase receptors (VEGF-R1, R2, and R3) support proliferation, survival, and mobility. Rafii's team has demonstrated that these receptors are expressed on subsets of primary hematopoietic cells as well as leukemic cells. Some leukemic cells express both VEGF-A and VEGF-R2, resulting in the generation of an autocrine loop that supports survival and within the osteoblastic zone translocating these cells to the vascular enriched niche for receipt of molecular instructions required for proliferation and differentiation. A pathologic

  2. Myeloproliferative neoplasm stem cells.

    Science.gov (United States)

    Mead, Adam J; Mullally, Ann

    2017-03-23

    Myeloproliferative neoplasms (MPNs) arise in the hematopoietic stem cell (HSC) compartment as a result of the acquisition of somatic mutations in a single HSC that provides a selective advantage to mutant HSC over normal HSC and promotes myeloid differentiation to engender a myeloproliferative phenotype. This population of somatically mutated HSC, which initiates and sustains MPNs, is termed MPN stem cells. In >95% of cases, mutations that drive the development of an MPN phenotype occur in a mutually exclusive manner in 1 of 3 genes: JAK2 , CALR , or MPL The thrombopoietin receptor, MPL, is the key cytokine receptor in MPN development, and these mutations all activate MPL-JAK-STAT signaling in MPN stem cells. Despite common biological features, MPNs display diverse disease phenotypes as a result of both constitutional and acquired factors that influence MPN stem cells, and likely also as a result of heterogeneity in the HSC in which MPN-initiating mutations arise. As the MPN clone expands, it exerts cell-extrinsic effects on components of the bone marrow niche that can favor the survival and expansion of MPN stem cells over normal HSC, further sustaining and driving malignant hematopoiesis. Although developed as targeted therapies for MPNs, current JAK2 inhibitors do not preferentially target MPN stem cells, and as a result, rarely induce molecular remissions in MPN patients. As the understanding of the molecular mechanisms underlying the clonal dominance of MPN stem cells advances, this will help facilitate the development of therapies that preferentially target MPN stem cells over normal HSC. © 2017 by The American Society of Hematology.

  3. JAK2V617F mutation in a patient with B-cell chronic lymphocytic leukemia and prefibrotic primary myelofibrosis

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    Ristić Slobodan

    2015-01-01

    Full Text Available Introduction. Secondary malignancies, particularly solid tumors, are common in patients with chronic lymphocytic leukemia (CLL, but association of myeloproliferative neoplasms and chronic lymphocytic leukemia in the same patient is very rare. Case Outline. We report of a 67-year-old man with B-cell chronic lymphoid leukemia (B-CLL who developed primary myelofibrosis (PMF nine years after initial diagnosis. Patient received alkylation agents and purine analogue, which can be a predisposing factor for the development of myeloproliferative neoplasms. JAK2V617F mutation was not present initially at the time of CLL diagnosis, but was found after nine years when PMF occurred, which indicates that B-CLL and PMF represent two separate clonal origin neoplasms. Conclusion. Pathogenic mechanisms for the development of myeloproliferative and lymphoproliferative neoplasms in the same patient are unknown. Further research is needed to determine whether these malignancies originate from two different cell clones or arise from the same pluripotent hematopoietic stem cell. [Projekat Ministarstva nauke Republike Srbije, br. III 41004

  4. Perspectives on chronic inflammation in essential thrombocythemia, polycythemia vera, and myelofibrosis

    DEFF Research Database (Denmark)

    Hasselbalch, Hans K

    2012-01-01

    The morbidity and mortality of patients with the chronic Philadelphia-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera, and primary myelofibrosis are mainly caused by cardiovascular diseases, thrombohemorrhagic complications, and bone marrow failure because...

  5. Conversion Disorder, Functional Neurological Symptom Disorder, and Chronic Pain: Comorbidity, Assessment, and Treatment.

    Science.gov (United States)

    Tsui, Patricia; Deptula, Andrew; Yuan, Derek Y

    2017-06-01

    This paper examines the overlap of conversion disorder with chronic pain conditions, describes ways to assess for conversion disorder, and provides an overview of evidence-based treatments for conversion disorder and chronic pain, with a focus on conversion symptoms. Conversion disorder is a significant problem that warrants further study, given that there are not many well-established guidelines. Accurate and timely assessment should help move treatment in a more fruitful direction and avoid unnecessary medical interventions. Advances in neuroimaging may also help further our understanding of conversion disorder. Creating a supportive environment and a collaborative treatment relationship and improving understanding of conversion symptoms appear to help individuals diagnosed with conversion disorder engage in appropriate treatments. Novel uses of earlier treatments, such as hypnosis and psychodynamic approaches, could potentially be beneficial and require a more vigorous and systematic study. There are treatments that produce significant improvements in functioning and reduction of physical symptoms from conversion disorder even for very severe cases. Hypnotherapy, cognitive behavioral therapy, and inpatient multidisciplinary treatment with intensive physiotherapy for severe cases have the most evidence to support reduction of symptoms. Components of treatment for conversion disorder overlap with treatments for chronic pain and can be used together to produce therapeutic effects for both conditions. Treatment needs to be tailored for each individual's specific symptoms.

  6. The myeloproliferative neoplasms, unclassifiable: clinical and pathological considerations.

    Science.gov (United States)

    Gianelli, Umberto; Cattaneo, Daniele; Bossi, Anna; Cortinovis, Ivan; Boiocchi, Leonardo; Liu, Yen-Chun; Augello, Claudia; Bonometti, Arturo; Fiori, Stefano; Orofino, Nicola; Guidotti, Francesca; Orazi, Attilio; Iurlo, Alessandra

    2017-02-01

    In this study, we investigate in detail the morphological, clinical and molecular features of 71 consecutive patients with a diagnosis of myeloproliferative neoplasms, unclassifiable. We performed a meticulous morphological analysis and found that most of the cases displayed a hypercellular bone marrow (70%) with normal erythropoiesis without left-shifting (59%), increased granulopoiesis with left-shifting (73%) and increased megakaryocytes with loose clustering (96%). Megakaryocytes displayed frequent giant forms with hyperlobulated or bulbous nuclei and/or other maturation defects. Interestingly, more than half of the cases displayed severe bone marrow fibrosis (59%). Median values of hemoglobin level and white blood cells count were all within the normal range; in contrast, median platelets count and lactate dehydrogenase were increased. Little less than half of the patients (44%) showed splenomegaly. JAK2V617F mutation was detected in 72% of all patients. Among the JAK2-negative cases, MPLW515L mutation was found in 17% and CALR mutations in 67% of the investigated cases, respectively. Finally, by multiple correspondence analysis of the morphological profiles, we found that all but four of the cases could be grouped in three morphological clusters with some features similar to those of the classic BCR-ABL1-negative myeloproliferative neoplasms. Analysis of the clinical parameters in these three clusters revealed discrepancies with the morphological profile in about 55% of the patients. In conclusion, we found that the category of myeloproliferative neoplasm, unclassifiable is heterogeneous but identification of different subgroups is possible and should be recommended for a better management of these patients.

  7. Clinical Characteristics of Cerebrovascular Pathology with Patients Suffering from Ph-Negative Myeloproliferative Disease

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    Marine M. Tanashyan

    2016-09-01

    Full Text Available Background: Disturbances of microcirculation play a significant role in the development and progression of both acute and chronic cerebrovascular diseases (CVD and may be associated with different hemogram abnormalities. One of the reasons of the prothrombogenic state of the endothelium is the increase in the number of blood corpuscles leading to (non-Ph myeloproliferative disorders (MPD including essential thrombocythemia (ET, polycythemia vera (PV, and primary myelofibrosis (PM. Materials and Methods: The study included 167 patients: 102 patients with Ph-MPD and the control group comprising 65 patients with CVD. According to MPD subtype, the patients were divided into three groups: patients with ET (37%, n = 38, male/female 7/31, age 52 ± 7 years, those with PV (40%, n = 41, male/female 20/21, age 50 ± 6 years and those with PM (23%, n = 23, male/female 5/18, age 54 ± 4 years. Results: In 79% (n = 81 of cases in the study group (with Ph-MPD, patients had chronic CVD, with the most frequently identified symptoms being asthenia (92% and headache (72%. Headache in Ph-MPD patients was more frequently (86% associated with PM, while in patients with PV and ET it was equally distributed (70%. Neurological symptoms in 53% of cases were associated with focal changes of the brain on MRI localized in the subcortical area of the frontal and parietal lobes. Twenty-one (21% patients suffered an acute cerebrovascular accident, 8 of them had thrombotic occlusion of one of the internal carotid arteries leading to hemispheric infarcts. Endothelial function (as measured by flow-dependent dilation of the brachial artery was severely impaired in all study groups (median 5% with normal cut-off at 10%, the lowest degree of vasodilator activity being specific for patients with a history of stroke (p = 0.011. Conclusion: Patients suffering from MPD had asymptomatic focal changes in the brain in the absence of concomitant vascular disease (hypertension

  8. Occurrence of chronic lymphocytic leukemia in patients with chronic myelogenous leukemia

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    Pritish K Bhattacharyya

    2013-01-01

    Full Text Available Chronic lymphocytic leukemia (CLL is the most common leukemia of adults in the western world and constitutes about 33% of all leukemia′s. The incidence of CLL increases with age and are more common in older population. Chronic myeloid leukemia (CML on the contrary occurs in both young adults and elderly and is a chronic myeloproliferative disease that originates from abnormal pluripotent stem cells and results in involvement of multiple hematopoietic lineages, but predominantly myeloid and less commonly lymphoid. Association between CLL and myeloid malignancies (CML, acute myeloid leukemia and MDS, myelodysplastic syndrome is rare. In literature documenting CLL and CML in same patients, occur either simultaneously or CML is preceded by CLL.

  9. Emerging Therapeutic Strategies for Targeting Chronic Myeloid Leukemia Stem Cells

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    Ahmad Hamad

    2013-01-01

    Full Text Available Chronic myeloid leukemia (CML is a clonal myeloproliferative disorder. Current targeted therapies designed to inhibit the tyrosine kinase activity of the BCR-ABL oncoprotein have made a significant breakthrough in the treatment of CML patients. However, CML remains a chronic disease that a patient must manage for life. Although tyrosine kinase inhibitors (TKI therapy has completely transformed the prognosis of CML, it has made the therapeutic management more complex. The interruption of TKI treatment results in early disease progression because it does not eliminate quiescent CML stem cells which remain a potential reservoir for disease relapse. This highlights the need to develop new therapeutic strategies for CML to achieve a permanent cure, and to allow TKI interruption. This review summarizes recent research done on alternative targeted therapies with a particular focus on some important signaling pathways (such as Alox5, Hedgehog, Wnt/b-catenin, autophagy, and PML that have the potential to target CML stem cells and potentially provide cure for CML.

  10. Jak2 46/1 Haplotype Is Associated With Jak2 V617f--positive Myeloproliferative Neoplasms In Brazilian Patients.

    OpenAIRE

    Macedo, L C; Santos, B C; Pagliarini-e-Silva, S; Pagnano, K B B; Rodrigues, C; Quintero, F C; Ferreira, M E; Baraldi, E C; Ambrosio-Albuquerque, E P; Sell, A M; Visentainer, J E L

    2016-01-01

    This study aimed to verify the association between the JAK2 46/1 haplotype (V617F positive) and some hematological parameters in BCR-ABL-negative chronic myeloproliferative neoplasms (cMPNs) in our population. The blood samples obtained from the patients with cMPN were genotyped for the JAK2 V617F mutation and JAK2 rs10974944 SNP screening using a PCR-RFLP assay. The JAK2 V617F mutation was detected in 80.15% of patients. The G variant of rs10974944 was more frequent in all MPNs, especially t...

  11. Impact of Inflammation on Myeloproliferative Neoplasm Symptom Development

    Directory of Open Access Journals (Sweden)

    Holly L. Geyer

    2015-01-01

    Full Text Available Myeloproliferative neoplasms (essential thrombocythemia, ET; polycythemia vera, PV; myelofibrosis, MF are monoclonal malignancies associated with genomic instability, dysregulated signaling pathways, and subsequent overproduction of inflammatory markers. Acknowledged for their debilitating symptom profiles, recent investigations have aimed to determine the identity of these markers, the upstream sources stimulating their development, their prevalence within the MPN population, and the role they play in symptom development. Creation of dedicated Patient Reported Outcome (PRO tools, in combination with expanded access to cytokine analysis technology, has resulted in a surge of investigations evaluating the potential associations between symptoms and inflammation. Emerging data demonstrates clear relationships between individual MPN symptoms (fatigue, abdominal complaints, microvascular symptoms, and constitutional symptoms and cytokines, particularly IL-1, IL-6, IL-8, and TNF-α. Information is also compiling on the role symptoms paradoxically play in the development of cytokines, as in the case of fatigue-driven sedentary lifestyles. In this paper, we explore the symptoms inherent to the MPN disorders and the potential role inflammation plays in their development.

  12. Acute and chronic whiplash disorders--a review.

    Science.gov (United States)

    Sterner, Ylva; Gerdle, Björn

    2004-09-01

    This review examines acute and chronic whiplash-associated disorders to facilitate assessment, treatment and rehabilitation for further research and evidence-based practices. A review of the literature. Whiplash-associated disorders account for a large proportion of the overall impairment and disability caused by traffic injuries. Rarely can a definite injury be determined in the acute (or chronic) phase. Crash-related factors have been identified, and several trauma mechanisms possibly causing different injuries have been described. Most whiplash trauma will not cause injury, and the majority of patients (92-95%) will return to work. Litigation is not a major factor. Cognitive impairments are not the same as brain injury. Variables such as pain intensity, restricted motion, neurological symptoms and signs, together with central nervous system symptoms can be used to predict a situation with risk of remaining complaints. Influences of other factors--the same as for other chronic pain conditions--also exist. Persistent/chronic pain is not merely acute pain that persists over time; changes occur at different levels of the pain transmission system. Chronic whiplash-associated disorders are associated with problems concerning social functioning, daily anxieties and satisfaction with different aspects of life. Adequate information, advice and pain medication together with active interventions might be more effective in the acute stage. Early multidisciplinary rehabilitation focusing on cognitive-behavioural changes might be of value. To develop specific treatment and rehabilitation, it is important to identify homogenous subgroups.

  13. JAK2 mutation in a patient with CLL with coexistent myeloproliferative neoplasm (MPN).

    Science.gov (United States)

    Kodali, Srinivas; Chen, Chi; Rathnasabapathy, Chenthilmurugan; Wang, Jen Chin

    2009-12-01

    JAK2 mutation has not been described in patients with chronic lymphocytic leukemia (CLL). We found JAK2 mutation in a patient with CLL and coexisting myeloproliferative neoplasm (MPN). In this patient, we demonstrated the presence of the JAK2 mutation in CD34(+) progenitor cells, myeloid lineage cells, megakaryocytes, B lymphocytes but not in T lymphocytes. This case represents the first case report of JAK2 mutation in CLL and may also suggest that, JAK2 mutation most likely represents a secondary event from primary gene mutations involving the primitive stem cells which give rise to MPN and CLL. Furthermore, in this case, we believe that we are the first to demonstrate that JAK2 mutation in myeloid and B lymphoid cells but not T lymphocytes in a case of coexisting CLL and MPN.

  14. Myeloproliferative disorder FOP-FGFR1 fusion kinase recruits phosphoinositide-3 kinase and phospholipase Cγ at the centrosome

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    Tassin Anne-Marie

    2008-04-01

    Full Text Available Abstract Background The t(6;8 translocation found in rare and agressive myeloproliferative disorders results in a chimeric gene encoding the FOP-FGFR1 fusion protein. This protein comprises the N-terminal region of the centrosomal protein FOP and the tyrosine kinase of the FGFR1 receptor. FOP-FGFR1 is localized at the centrosome where it exerts a constitutive kinase activity. Results We show that FOP-FGFR1 interacts with the large centrosomal protein CAP350 and that CAP350 is necessary for FOP-FGFR1 localisation at centrosome. FOP-FGFR1 activates the phosphoinositide-3 kinase (PI3K pathway. We show that p85 interacts with tyrosine 475 of FOP-FGFR1, which is located in a YXXM consensus binding sequence for an SH2 domain of p85. This interaction is in part responsible for PI3K activation. Ba/F3 cells that express FOP-FGFR1 mutated at tyrosine 475 have reduced proliferative ability. Treatment with PI3K pathway inhibitors induces death of FOP-FGFR1 expressing cells. FOP-FGFR1 also recruits phospholipase Cγ1 (PLCγ1 at the centrosome. We show that this enzyme is recruited by FOP-FGFR1 at the centrosome during interphase. Conclusion These results delineate a particular type of oncogenic mechanism by which an ectopic kinase recruits its substrates at the centrosome whence unappropriate signaling induces continuous cell growth and MPD.

  15. The Danish National Chronic Myeloid Neoplasia Registry

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    Bak M

    2016-10-01

    data: By the end of 2014, the DCMR contained data on 2,690 patients with an inclusion rate of ~500 patients each year. Since the registry was established, annual reports have shown consistently high national coverage and data completeness, ≥90% and ≥88%, respectively. Conclusion: The DCMR is a national database used for monitoring the quality of patient care in patients with chronic myeloid malignancies, but until validation has been conducted, the data must be used with caution. However, the DCMR is a valuable data source accessible to clinicians and researchers. Keywords: myeloproliferative disorders, database, treatment, health care quality assurance, outcome assessment, epidemiology, research

  16. Neurobiology of Chronic Stress-Related Psychiatric Disorders: Evidence from Molecular Imaging Studies

    Science.gov (United States)

    Davis, Margaret T.; Holmes, Sophie E.; Pietrzak, Robert H.; Esterlis, Irina

    2018-01-01

    Chronic stress accounts for billions of dollars of economic loss annually in the United States alone, and is recognized as a major source of disability and mortality worldwide. Robust evidence suggests that chronic stress plays a significant role in the onset of severe and impairing psychiatric conditions, including major depressive disorder, bipolar disorder, and posttraumatic stress disorder. Application of molecular imaging techniques such as positron emission tomography and single photon emission computed tomography in recent years has begun to provide insight into the molecular mechanisms by which chronic stress confers risk for these disorders. The present paper provides a comprehensive review and synthesis of all positron emission tomography and single photon emission computed tomography imaging publications focused on the examination of molecular targets in individuals with major depressive disorder, posttraumatic stress disorder, or bipolar disorder to date. Critical discussion of discrepant findings and broad strengths and weaknesses of the current body of literature is provided. Recommended future directions for the field of molecular imaging to further elucidate the neurobiological substrates of chronic stress-related disorders are also discussed. This article is part of the inaugural issue for the journal focused on various aspects of chronic stress. PMID:29862379

  17. Defining the Thrombotic Risk in Patients with Myeloproliferative Neoplasms

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    Fabrizio Vianello

    2011-01-01

    Full Text Available Polycythemia vera (PV and essential thrombocythemia (ET are two Philadelphia-negative myeloproliferative neoplasms (MPN associated with an acquired mutation in the JAK2 tyrosine kinase gene. There is a rare incidence of progression to myelofibrosis and myeloid metaplasia in both disorders, which may or may not precede transformation to acute myeloid leukemia, but thrombosis is the main cause of morbidity and mortality. The pathophysiology of thrombosis in patients with MPN is complex. Traditionally, abnormalities of platelet number and function have been claimed as the main players, but increased dynamic interactions between platelets, leukocytes, and the endothelium do probably represent a fundamental interplay in generating a thrombophilic state. In addition, endothelial dysfunction, a well-known risk factor for vascular disease, may play a role in the thrombotic risk of patients with PV and ET. The identification of plasma markers translating the hemostatic imbalance in patients with PV and ET would be extremely helpful in order to define the subgroup of patients with a significant clinical risk of thrombosis.

  18. [MPLW515L point mutation in patients with myeloproliferative disease].

    Science.gov (United States)

    Xia, Jun; Xu, Wei; Zhang, Su-Jiang; Fan, Lei; Qiao, Chun; Li, Jian-Yong

    2008-12-01

    In order to investigate the frequency of MPLW515L and JAK2V617F point mutations of the patients with myeloproliferative disease (MPD) in Nanjing area, MPLW515L and JAK2V617F point mutations were simultaneously detected by alleles specific polymerase chain reaction (AS-PCR) and sequencing in 190 MPD patients. The results showed that MPLW515L point mutation was detected in 1 out of 102 essential thrombocythemia (ET) patients (1.0%) and was not detected in 32 polycythemia vera (PV) patients, 13 idiopathic myelofibrosis (IMF) patients, 43 chronic myelogenous leukemia (CML) patients. JAK2V617F point mutation was detected in 20 out of 32 PV patients (62.5%), 43 out of 102 ET patients (42.2%), 5 out of 13 IMF patients (38.5%), and was not detected in 43 CML patients. It is concluded that MPLW515L point mutation exists in ET patient, but is not found in PV, IMF and CML. JAK2V617F point mutation exists in PV, ET and IMF, but not in CML.

  19. Current approaches to challenging scenarios in myeloproliferative neoplasms.

    Science.gov (United States)

    Zimran, Eran; Hoffman, Ronald; Kremyanskaya, Marina

    2018-06-01

    The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia and primary myelofibrosis are clonal hematological malignancies that originate at the level of the hematopoietic stem cell, and are characterized by excessive proliferation of cells belonging to one or more of the myeloid lineages. Central to the pathogenesis of the MPNs is constitutive activation of the JAK/STAT signaling pathway due to a family of driver mutations affecting JAK2, CALR or MPL. These disorders share common clinical and laboratory features, a significant burden of systemic symptoms, increased risk of developing arterial and venous thrombotic events, and the potential to progress to myelofibrosis and acute leukemia. Areas covered: We identified four clinical situations which represent challenging management dilemmas for patients with MPNs. Our conclusions and recommendations are based on a literature search using MEDLINE and recent meeting abstracts using the keywords, focusing on publications directly addressing these scenarios and on recent contributions to the field. Expert commentary: Multi-center efforts to study large cohorts of MPN patients have led to more uniform and evidence-based approaches to key aspects in MPN management. However, treatment strategies to deal with specific clinical scenarios are lacking.

  20. Association of Mental Disorders With Subsequent Chronic Physical Conditions

    Science.gov (United States)

    Scott, Kate M.; Lim, Carmen; Al-Hamzawi, Ali; Alonso, Jordi; Bruffaerts, Ronny; Caldas-de-Almeida, José Miguel; Florescu, Silvia; de Girolamo, Giovanni; Hu, Chiyi; de Jonge, Peter; Kawakami, Norito; Medina-Mora, Maria Elena; Moskalewicz, Jacek; Navarro-Mateu, Fernando; O’Neill, Siobhan; Piazza, Marina; Posada-Villa, José; Torres, Yolanda; Kessler, Ronald C.

    2017-01-01

    IMPORTANCE It is clear that mental disorders in treatment settings are associated with a higher incidence of chronic physical conditions, but whether this is true of mental disorders in the community, and how generalized (across a range of physical health outcomes) these associations are, is less clear. This information has important implications for mental health care and the primary prevention of chronic physical disease. OBJECTIVE To investigate associations of 16 temporally prior DSM-IV mental disorders with the subsequent onset or diagnosis of 10 chronic physical conditions. DESIGN, SETTING, AND PARTICIPANTS Eighteen face-to-face, cross-sectional household surveys of community-dwelling adults were conducted in 17 countries (47 609 individuals; 2 032 942 person-years) from January 1, 2001, to December 31, 2011. The Composite International Diagnostic Interview was used to retrospectively assess the lifetime prevalence and age at onset of DSM-IV–identified mental disorders. Data analysis was performed from January 3, 2012, to September 30, 2015. MAIN OUTCOMES AND MEASURES Lifetime history of physical conditions was ascertained via self-report of physician’s diagnosis and year of onset or diagnosis. Survival analyses estimated the associations of temporally prior first onset of mental disorders with subsequent onset or diagnosis of physical conditions. RESULTS Most associations between 16 mental disorders and subsequent onset or diagnosis of 10 physical conditions were statistically significant, with odds ratios (ORs) (95% CIs) ranging from 1.2 (1.0–1.5) to 3.6 (2.0–6.6). The associations were attenuated after adjustment for mental disorder comorbidity, but mood, anxiety, substance use, and impulse control disorders remained significantly associated with onset of between 7 and all 10 of the physical conditions (ORs [95% CIs] from 1.2 [1.1–1.3] to 2.0 [1.4–2.8]). An increasing number of mental disorders experienced over the life course was significantly

  1. Skin disorders in chronic psychiatric illness.

    NARCIS (Netherlands)

    Mookhoek, E.J.; Kerkhof, P.C.M. van de; Hovens, J.E.; Brouwers, J.R.B.J.; Loonen, A.J.M.

    2010-01-01

    BACKGROUND: Chronic psychiatric patients are prone to develop skin diseases. However, epidemiological data are scarce. OBJECTIVE: To describe the prevalence of skin complaints and dermatological disorders in residential psychiatric patients. METHODS: Ninety-one randomly chosen patients of the

  2. Skin disorders in chronic psychiatric illness

    NARCIS (Netherlands)

    Mookhoek, E. J.; van de Kerkhof, P. C. M.; Hovens, J. E. J. M.; Brouwers, J. R. B. J.; Loonen, A. J. M.

    2010-01-01

    Background Chronic psychiatric patients are prone to develop skin diseases. However, epidemiological data are scarce. Objective To describe the prevalence of skin complaints and dermatological disorders in residential psychiatric patients. Methods Ninety-one randomly chosen patients of the

  3. Exploring sleep disorders in patients with chronic kidney disease

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    Nigam G

    2018-01-01

    Full Text Available Gaurav Nigam,1 Macario Camacho,2 Edward T Chang,2 Muhammad Riaz3 1Division of Sleep Medicine, Clay County Hospital, Flora, IL, 2Division of Otolaryngology, Sleep Surgery and Sleep Medicine, Tripler Army Medical Center, Honolulu, HI, 3Division of Sleep Medicine, Astria Health Center, Grandview, WA, USA Abstract: Kidney disorders have been associated with a variety of sleep-related disorders. Therefore, researchers are placing greater emphasis on finding the role of chronic kidney disease (CKD in the development of obstructive sleep apnea and restless legs syndrome. Unfortunately, the presence of other sleep-related disorders with CKDs and non-CKDs has not been investigated with the same clinical rigor. Recent studies have revealed that myriad of sleep disorders are associated with CKDs. Furthermore, there are a few non-CKD-related disorders that are associated with sleep disorders. In this narrative review, we provide a balanced view of the spectrum of sleep disorders (as identified in International Classification of Sleep disorders-3 related to different types of renal disorders prominently including but not exclusively limited to CKD. Keywords: kidney disease, sleep disorders, obstructive sleep apnea, parasomnias, restless legs syndrome, chronic kidney disease, insomnia

  4. Anxiety Symptoms in Boys with Autism Spectrum Disorder, Attention-Deficit Hyperactivity Disorder, or Chronic Multiple Tic Disorder and Community Controls

    Science.gov (United States)

    Guttmann-Steinmetz, Sarit; Gadow, Kenneth D.; DeVincent, Carla J.; Crowell, Judy

    2010-01-01

    We compared symptoms of generalized anxiety disorder (GAD) and separation anxiety disorder (SAD) in 5 groups of boys with neurobehavioral syndromes: attention-deficit/hyperactivity disorder (ADHD) plus autism spectrum disorder (ASD), ADHD plus chronic multiple tic disorder (CMTD), ASD only, ADHD only, and community Controls. Anxiety symptoms were…

  5. Cytokine Regulation of Microenvironmental Cells in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Gregor Hoermann

    2015-01-01

    Full Text Available The term myeloproliferative neoplasms (MPN refers to a heterogeneous group of diseases including not only polycythemia vera (PV, essential thrombocythemia (ET, and primary myelofibrosis (PMF, but also chronic myeloid leukemia (CML, and systemic mastocytosis (SM. Despite the clinical and biological differences between these diseases, common pathophysiological mechanisms have been identified in MPN. First, aberrant tyrosine kinase signaling due to somatic mutations in certain driver genes is common to these MPN. Second, alterations of the bone marrow microenvironment are found in all MPN types and have been implicated in the pathogenesis of the diseases. Finally, elevated levels of proinflammatory and microenvironment-regulating cytokines are commonly found in all MPN-variants. In this paper, we review the effects of MPN-related oncogenes on cytokine expression and release and describe common as well as distinct pathogenetic mechanisms underlying microenvironmental changes in various MPN. Furthermore, targeting of the microenvironment in MPN is discussed. Such novel therapies may enhance the efficacy and may overcome resistance to established tyrosine kinase inhibitor treatment in these patients. Nevertheless, additional basic studies on the complex interplay of neoplastic and stromal cells are required in order to optimize targeting strategies and to translate these concepts into clinical application.

  6. Phase II Study Evaluating Busulfan and Fludarabine as Preparative Therapy in Adults With Hematopoietic Disorders Undergoing MUD SCT

    Science.gov (United States)

    2009-01-22

    Chronic Myeloid Leukemia; Acute Myelogenous Leukemia; Myelodysplasia; Acute Lymphocytic Leukemia; Severe Aplastic Anemia; Non-Hodgkin's Lymphoma; Lymphoproliferative Disease; Multiple Myeloma; Advanced Myeloproliferative Disease

  7. Bone marrow stroma in idiopathic myelofibrosis and other haematological diseases. An immunohistochemical study

    DEFF Research Database (Denmark)

    Lisse, I; Hasselbalch, H; Junker, P

    1991-01-01

    Bone marrow stroma was investigated immunohistochemically in 31 patients with haematological diseases, mainly idiopathic myelofibrosis (n = 8) and related chronic myeloproliferative disorders (n = 14). The bone marrow from patients with idiopathic myelofibrosis and some CML patients showed marked...

  8. Physiopathology, etiologic factors, diagnosis, and course of polycythemia vera as related to therapy according to William Dameshek, 1940-1950

    NARCIS (Netherlands)

    J.J. Michiels (Jan)

    2013-01-01

    textabstractAccording to Dameshek, true polycythemia (polycythemia vera: PV) is a chronic myeloproliferative disorder of the total bone marrow without any evidence of invasiveness, in which erythrocytosis, leukocytosis, and thrombocytosis are all simultaneously present. A possible hereditary or

  9. Chronic inflammation as a promotor of mutagenesis in essential thrombocythemia, polycythemia vera and myelofibrosis. A human inflammation model for cancer development?

    DEFF Research Database (Denmark)

    Hasselbalch, Hans K

    2013-01-01

    The Philadelphia-negative chronic myeloproliferative neoplasms (MPNs) are acquired stem cell neoplasms, in which a stem cell lesion induces an autonomous proliferative advantage. In addition to the JAK2V617 mutation several other mutations have been described. Recently chronic inflammation has be...

  10. Burnout in Patients with Chronic Whiplash-Associated Disorders

    Science.gov (United States)

    Clementz, Gunilla; Borsbo, Bjorn; Norrbrink, Cecilia

    2012-01-01

    This study sought to assess burnout and its relation to pain, disability, mood and health-related quality of life in a group of patients with chronic whiplash-associated disorders (WAD). Forty-five patients with chronic WAD ([greater than or equal to] 3 months) referred to a multidisciplinary rehabilitation centre were included. A questionnaire…

  11. Clinical evaluation of elderly people with chronic vestibular disorder.

    Science.gov (United States)

    Gazzola, Juliana Maria; Ganança, Fernando Freitas; Aratani, Mayra Cristina; Perracini, Monica Rodrigues; Ganança, Maurício Malavasi

    2006-01-01

    Dizziness is common among the elderly. To characterize social, demographic, clinical, functional and otoneurological data in elderly patients with chronic vestibular disorder. A sequential study of 120 patients with chronic vestibular disorder. Simple descriptive analyses were undertaken. Most of the patients were female (68.3%) with a mean age of 73.40+/-5.77 years. The average number of illnesses associated with the vestibular disorder was 3.83+/-1.84; the patients were taking on average 3.86+/-2.27 different medications. The most prevalent diagnosis on the vestibular exam was unilateral vestibular loss (29.8%) and the most prevalent etiology was metabolic vestibulopathy (40.0%) followed by benign paroxysmal positional vertigo (36.7%). Fifty-two patients (43.3%) had experienced dizziness for 5 years or more. Sixty-four patients (53.3%) had at least one fall in the last year and thirty-five (29.2%) had recurrent falls. Most of the sample included females with associated diseases, and using many different drugs. The most prevalent vestibular diseases were metabolic and vascular labyrinth conditions. Dizziness is a chronic symptom in elderly patients. The association of two vestibular diseases is common. Falls are prevalent in chronic dizzy elderly patients.

  12. Antiplatelet drugs for polycythaemia vera and essential thrombocythaemia

    NARCIS (Netherlands)

    Squizzato, A.; Romualdi, E.; Middeldorp, S.

    2008-01-01

    BACKGROUND: Polycythaemia vera and essential thrombocythaemia are chronic Philadelphia-negative myeloproliferative disorders, which increase the risk of arterial and venous thrombosis as well as bleeding. In addition to the different therapeutic strategies available, aspirin is often used to prevent

  13. Is temporomandibular pain in chronic whiplash-associated disorders part of a more widespread pain syndrome?

    Science.gov (United States)

    Visscher, Corine; Hofman, Nico; Mes, Carola; Lousberg, Richel; Naeije, Machiel

    2005-01-01

    The prevalence of temporomandibular disorders in patients with chronic whiplash-associated disorder is a controversial issue that may be influenced by the widespread pain character and psychologic distress frequently observed in patients with chronic pain. The aim of this study was to determine the prevalence of temporomandibular disorder pain, widespread pain, and psychologic distress in persons with chronic whiplash-associated disorder pain, using a controlled, single blind study design. The prevalence of temporomandibular disorder pain in the chronic whiplash-associated disorder pain group was compared with 2 control groups: a chronic neck pain group and a no neck pain group. From 65 persons, a standardized oral history was taken, a physical examination of the neck and the masticatory system was performed, widespread pain was investigated by tender point palpation, and psychologic distress was measured with a questionnaire (SCL-90). Because the recognition of temporomandibular disorder pain and neck pain remains a matter of debate, 3 well-defined classification systems were used: one based on the oral history, a second on a combination of oral history and pain on active movements and palpation, and a third one based on a combination of oral history and function tests. Irrespective of the classification system used, the chronic whiplash-associated disorder pain group more often suffered from temporomandibular disorder pain (0.001neck pain group. Moreover, patients with whiplash-associated disorder showed more psychologic distress (0.000disorder suggests that the higher prevalence of temporomandibular disorder pain in these patients is part of a more widespread chronic pain disorder.

  14. Aripiprazole treatment of children and adolescents with Tourette disorder or chronic tic disorder.

    Science.gov (United States)

    Seo, Wan Seok; Sung, Hyung-Mo; Sea, Hyun Seok; Bai, Dai Seg

    2008-04-01

    This study was conducted to evaluate the effectiveness of aripiprazole to reduce the severity and frequency of tic symptoms and to evaluate the additional effects of aripiprazole on weight changes in children and adolescents with Tourette disorder (TD) or chronic tic disorders. A 12-week, open-label trial with flexible dosing strategy of aripiprazole was performed with 15 participants, aged 7-19 years. The Yale Global Tic Severity Scale was applied and the baseline, week 3, 5, 9, and end point scores were compared. The mean body mass index (BMI) at baseline and end point were also compared. Significant decreases in the scores of motor and phonic tics, global impairment, and global severity were demonstrated between baseline and week 3, and the scores continued to improve thereafter. No difference was observed between the baseline and end point BMI. This study demonstrates that a relatively low dose of aripiprazole can be used to control tic symptoms effectively in children and adolescents with TD and chronic tic disorders without causing significant weight gain. Additional double-blind studies are needed to establish the definitive efficacy of aripiprazole in treating children and adolescents with chronic tic symptoms.

  15. Chronic stressors and trauma: prospective influences on the course of bipolar disorder.

    Science.gov (United States)

    Gershon, A; Johnson, S L; Miller, I

    2013-12-01

    Exposure to life stress is known to adversely impact the course of bipolar disorder. Few studies have disentangled the effects of multiple types of stressors on the longitudinal course of bipolar I disorder. This study examines whether severity of chronic stressors and exposure to trauma are prospectively associated with course of illness among bipolar patients. One hundred and thirty-one participants diagnosed with bipolar I disorder were recruited through treatment centers, support groups and community advertisements. Severity of chronic stressors and exposure to trauma were assessed at study entry with in-person interviews using the Bedford College Life Event and Difficulty Schedule (LEDS). Course of illness was assessed by monthly interviews conducted over the course of 24 months (over 3000 assessments). Trauma exposure was related to more severe interpersonal chronic stressors. Multiple regression models provided evidence that severity of overall chronic stressors predicted depressive but not manic symptoms, accounting for 7.5% of explained variance. Overall chronic stressors seem to be an important determinant of depressive symptoms within bipolar disorder, highlighting the importance of studying multiple forms of life stress.

  16. Methylphenidate and Comorbid Anxiety Disorder in Children with both Chronic Multiple Tic Disorder and ADHD

    Science.gov (United States)

    Gadow, Kenneth D.; Nolan, Edith E.

    2011-01-01

    Objective: To determine if comorbid anxiety disorder is associated with differential response to immediate release methylphenidate (MPH-IR) in children with both ADHD and chronic multiple tic disorder (CMTD). Method: Children with (n = 17) and without (n = 37) diagnosed anxiety disorder (ANX) were evaluated in an 8-week, placebo-controlled trial…

  17. Immunological disorders in chronic hepatitis C Egyptian patients.

    Science.gov (United States)

    Shaker, M K; Fahmy, H M

    1997-01-01

    It is known that hepatitis C virus (HCV) related to chronic liver disease may be associated with various immunological disorders, among these disorders are mixed cryoglobulinemia, serum antinuclear antibodies, antismooth muscle antibodies and liver/kidney microsomal antibody type 1 (LKM1). However, the actual prevalence and pathogenic role of these disorders in patients with chronic hepatitis C are unclear. It was our aim to estimate the prevalence of different autoimmune antibodies in cases of hepatitis C chronic liver disease and to assess if such changes have any clinical significance. A total of 30 chronic hepatitis C patients (22 males and 8 females) with a mean age of 43.5 +/- 6.7 years, all patients were ELISA II positive, HCV RNA PCR positive and HbsAg negative, with elevated ALT more than 2 folds of the normal, in addition to 20 healthy controls of matched age and sex were tested for rheumatoid factor, cryoglobulin, antinuclear antibody, antismooth muscle antibody, antimitochondrial antibody and LKM1. The rheumatoid factor was present in 18 (60%) of the HCV Ab +ve patients and in 1 (5%) of the controls (p 0.24), antinuclear antibody was positive in 4 (13.3%) of the patients and in 1 (5%) of the controls (p > 0.6), antismooth muscle antibody was positive in 1 (3.3%) of the patients and not detected in any of the controls, the antimitochondrial antibody and LKM1 were not detected in both the patients and the controls. In conclusion, we can see that chronic hepatitis C patients show prevalence of some autoimmune antibodies and their presence is not associated with any implication on the clinical presentation.

  18. Color perception deficits in co-existing attention-deficit/hyperactivity disorder and chronic tic disorders

    NARCIS (Netherlands)

    Roessner, V.; Banaschewski, T.; Fillmer-Otte, A.; Becker, A.; Albrecht, B.; Uebel, H.; Sergeant, J.A.; Tannock, R.; Rothenberger, A.

    2008-01-01

    Preliminary findings suggest that color perception, particularly of blue-yellow stimuli, is impaired in attention-deficit/hyperactivity disorder (ADHD) as well as in chronic tic disorders (CTD). However, these findings have been not replicated and it is unclear what these deficits mean for the

  19. Orofacial pain, jaw function, and temporomandibular disorders in adult women with a history of juvenile chronic arthritis or persistent juvenile chronic arthritis

    DEFF Research Database (Denmark)

    Bakke, M.; Zak, M.; Jensen, B.L.

    2001-01-01

    Orofacial pain, jaw function, temporomandibular disorders, adult women persistent juvenil chronic arthritis......Orofacial pain, jaw function, temporomandibular disorders, adult women persistent juvenil chronic arthritis...

  20. Increased risk of chronic liver disease in patients with bipolar disorder: A population-based study.

    Science.gov (United States)

    Hsu, Jer-Hwa; Chien, I-Chia; Lin, Ching-Heng

    2016-01-01

    This study aimed to investigate the prevalence and incidence of chronic liver disease in patients with bipolar disorder. We used a random sample of 766,427 subjects aged ≥18 years from the National Health Research Institute database in the year 2005. Subjects with at least one primary diagnosis of bipolar disorder in 2005 were identified. Patients with a primary or secondary diagnosis of chronic liver disease were also defined. We compared the prevalence and associated factors of chronic liver disease between patients with bipolar disorder and the general population in 2005. We also compared the incidence of chronic liver disease in patients with bipolar disorder and the general population from 2006 to 2010. The prevalence of chronic liver disease in patients with bipolar disorder (13.9%) was 2.68 times higher than that of the general population (5.8%) in 2005. The average annual incidence of chronic liver disease in patients with bipolar disorder from 2006 to 2010 was also higher than that of the general population (2.95% vs. 1.73%; risk ratio: 1.71; 95% confidence interval: 1.46-2.01). Patients with bipolar disorder had a significantly higher prevalence and incidence of chronic liver disease than those in the general population, and younger patients with bipolar disorder have a much higher prevalence and incidence than those in the general population. Male sex, second-generation antipsychotic or antidepressant use, and hyperlipidemia were associated factors for chronic liver disease in patients with bipolar disorder. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Peer Victimization in Youth with Tourette Syndrome and Other Chronic Tic Disorders

    Science.gov (United States)

    Zinner, Samuel H.; Conelea, Christine A.; Glew, Gwen M.; Woods, Douglas W.; Budman, Cathy L.

    2012-01-01

    Chronic tic disorders including Tourette syndrome have negative impact across multiple functional domains. We explored associations between peer victimization status and tic subtypes, premonitory urges, internalizing symptoms, explosive outbursts, and quality of life among youth with chronic tic disorders, as part of the internet-based omnibus…

  2. Transformation of an Unclassified Myeloproliferative Neoplasm with a Rare BCR-JAK2 Fusion Transcript Resulting from the Translocation (9;22)(p24;q11)

    OpenAIRE

    A. N. Chamseddine; P. Etancelin; D. Penther; F. Parmentier; C. Kuadjovi; V. Camus; N. Contentin; P. Lenain; C. Bastard; H. Tilly; F. Jardin

    2015-01-01

    BCR-ABL1 negative myeloproliferative neoplasms (MPNs) are known to contain alterations of the tyrosine kinase JAK2 (located on 9p24) that result in constitutive activation of the encoded protein. JAK2 fusions are reported in acute and chronic leukemias of myeloid and lymphoid phenotypes. Here, we report an unclassified case of MPN (MPN-U) showing a t(9;22)(p24;q11), which generates a BCR-JAK2 fusion gene by fusing the BCR at intron 13 to JAK2 at intron 17 on the derivative chromosome 22. Most...

  3. Relationship of JAK2V617F gene mutation with cell proliferation and coagulation function in myeloproliferative neoplasms

    Directory of Open Access Journals (Sweden)

    Xiao-Nan Zhang

    2017-05-01

    Full Text Available Objective: To study the relationship of JAK2V617F gene mutation with cell proliferation and coagulation function in myeloproliferative neoplasms. Methods: Patients who were diagnosed with BCR-ABL-negative myeloproliferative neoplasms in Anyang District Hospital between June 2014 and August 2016 were selected, JAK2V617F gene mutation was detected, and according to the test results, the patients were divided into mutation-positive group and mutation-negative group. The expression of JAK2/STATs signaling pathway molecules and cell proliferation genes in bone marrow fluid as well as the coagulation function indexes in peripheral blood were detected. Results: p-JAK2, p-STAT3, p-STAT5, Survivin, C-myc, CyclinD1 and ASXL1 protein expression in myeloproliferative neoplasms of mutation-positive group were significantly higher than those of mutation-negative group, and peripheral blood PT and APTT levels were significantly lower than those of mutation-negative group while TT and FIB levels were not significantly different from those of mutation-negative group. Conclusion: JAK2V617F gene mutation in myeloproliferative neoplasms can promote the cell proliferation and cause the hypercoagulable state.

  4. Epigenetic therapy in myeloproliferative neoplasms: evidence and perspectives

    Science.gov (United States)

    Vannucchi, Alessandro M; Guglielmelli, Paola; Rambaldi, Alessandro; Bogani, Costanza; Barbui, Tiziano

    2009-01-01

    The classic Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), which include polycythaemia vera, essential thrombocythaemia and primary myelofibrosis, originate from a stem cell-derived clonal myeloproliferation that manifests itself with variable haematopoietic cell lineage involvement; they are characterized by a high degree of similarities and the chance to transform each to the other and to evolve into acute leukaemia. Their molecular pathogenesis has been associated with recurrent acquired mutations in janus kinase 2 (JAK2) and myeloproliferative leukemia virus oncogene (MPL). These discoveries have simplified the diagnostic approach and provided a number of clues to understanding the phenotypic expression of MPNs; furthermore, they represented a framework for developing and/or testing in clinical trials small molecules acting as tyrosine kinase inhibitors. On the other hand, evidence of abnormal epigenetic gene regulation as a mechanism potentially contributing to the pathogenesis and the phenotypic diversity of MPNs is still scanty; however, study of epigenetics in MPNs represents an active field of research. The first clinical trials with epigenetic drugs have been completed recently, whereas others are still ongoing; results have been variable and at present do not allow any firm conclusion. Novel basic and translational information concerning epigenetic gene regulation in MPNs and the perspectives for therapy will be critically addressed in this review. PMID:19522842

  5. Myeloproliferative Disease: An Unusual Cause of Raynaud’s Phenomenon and Digital Ischaemia

    Directory of Open Access Journals (Sweden)

    Celia Beynon

    2016-01-01

    Full Text Available We describe a 59-year-old female who presented with ischaemic digits, preceded by a 6-month history of Raynaud’s phenomenon affecting her fingers and toes. There were no clinical or laboratory features of primary vasculitis or connective tissue disease, Doppler imaging was normal, and bloods were unremarkable aside from a platelet count of 786 × 109/L (150–400 and white cells of 16 × 109/L (4–11. In view of the thrombocytosis a JAK2 mutation assay was requested which confirmed a JAK2 V617F mutation, suggesting essential thrombocytosis (ET as the cause. She received treatment with hydroxycarbamide which normalised her platelet count and led to a complete resolution of her Raynaud’s symptoms. Raynaud’s phenomenon is a rare manifestation of ET. Myeloproliferative disorders such as ET should be considered in the differential diagnosis of Raynaud’s phenomenon and vasculitis.

  6. Chronic stressors and trauma: prospective influences on the course of bipolar disorder

    Science.gov (United States)

    Gershon, A.; Johnson, S. L.; Miller, I.

    2013-01-01

    Background Exposure to life stress is known to adversely impact the course of bipolar disorder. Few studies have disentangled the effects of multiple types of stressors on the longitudinal course of bipolar I disorder. This study examines whether severity of chronic stressors and exposure to trauma are prospectively associated with course of illness among bipolar patients. Method One hundred and thirty-one participants diagnosed with bipolar I disorder were recruited through treatment centers, support groups and community advertisements. Severity of chronic stressors and exposure to trauma were assessed at study entry with in-person interviews using the Bedford College Life Event and Difficulty Schedule (LEDS). Course of illness was assessed by monthly interviews conducted over the course of 24 months (over 3000 assessments). Results Trauma exposure was related to more severe interpersonal chronic stressors. Multiple regression models provided evidence that severity of overall chronic stressors predicted depressive but not manic symptoms, accounting for 7.5% of explained variance. Conclusions Overall chronic stressors seem to be an important determinant of depressive symptoms within bipolar disorder, highlighting the importance of studying multiple forms of life stress. PMID:23419615

  7. TG101209, a small molecule JAK2-selective kinase inhibitor potently inhibits myeloproliferative disorder-associated JAK2V617F and MPLW515L/K mutations.

    Science.gov (United States)

    Pardanani, A; Hood, J; Lasho, T; Levine, R L; Martin, M B; Noronha, G; Finke, C; Mak, C C; Mesa, R; Zhu, H; Soll, R; Gilliland, D G; Tefferi, A

    2007-08-01

    JAK2V617F and MPLW515L/K represent recently identified mutations in myeloproliferative disorders (MPD) that cause dysregulated JAK-STAT signaling, which is implicated in MPD pathogenesis. We developed TG101209, an orally bioavailable small molecule that potently inhibits JAK2 (IC(50)=6 nM), FLT3 (IC(50)=25 nM) and RET (IC(50)=17 nM) kinases, with significantly less activity against other tyrosine kinases including JAK3 (IC(50)=169 nM). TG101209 inhibited growth of Ba/F3 cells expressing JAK2V617F or MPLW515L mutations with an IC(50) of approximately 200 nM. In a human JAK2V617F-expressing acute myeloid leukemia cell line, TG101209-induced cell cycle arrest and apoptosis, and inhibited phosphorylation of JAK2V617F, STAT5 and STAT3. Therapeutic efficacy of TG101209 was demonstrated in a nude mouse model. Furthermore, TG101209 suppressed growth of hematopoietic colonies from primary progenitor cells harboring JAK2V617F or MPL515 mutations.

  8. Neoplasias mieloproliferativas: revisão dos critérios diagnósticos e dos aspectos clínicos Myeloproliferative neoplasms: a review of diagnostic criteria and clinical aspects

    Directory of Open Access Journals (Sweden)

    Maria de Lourdes L. F. Chauffaille

    2010-01-01

    Full Text Available As síndromes mieloproliferativas crônicas, atualmente denominadas neoplasias mieloproliferativas (NMP, de acordo com a 4ª. edição da classificação da Organização Mundial da Saúde (OMS, são doenças clonais de célula-tronco hematopoética, nas quais há a proliferação aumentada de uma ou mais das séries mieloides (granulocítica, eritrocítica, megacariocítica ou mastocítica com maturação eficaz. A progressão de todas é caracterizada por fibrose medular ou transformação leucêmica. Pela classificação da OMS, as NMP incluem: leucemia mieloide crônica (LMC, policitemia vera (PV, mielofibrose idiopática crônica (MF, trombocitemia essencial (TE, leucemia neutrofílica crônica (LNC, leucemia eosinofílica crônica não especificada(LEC, mastocitose (M e neoplasia mieloproliferativa inclassificável (NMI. É interessante notar que tanto a LMC (BCR/ABL1 como PV, MF e TE (JAK2 V617F e éxon 12, MPLW515L/K e M (KITD816V tiveram suas bases moleculares desvendadas e apresentam em comum a ativação constitutiva de tirosino-quinase graças às mutações adquiridas pela célula-tronco hematopoética. A mutação JAK2 V617F é observada em mais de 90% dos casos de PV, mas também em cerca de 50%-60% das MF e TE, levando ao questionamento de como uma única lesão molecular desencadeia três manifestações clínicas diversas. Já há evidências de que eventos genéticos e epigenéticos adicionais contribuem para a patogênese, tais como MPLW515L e MPLW515K. No presente manuscrito são apresentados os aspectos clínicos, a fisiopatologia e os critérios diagnósticos das diferentes NMP.Chronic myeloproliferative disorders, currently called myeloproliferative neoplasms (MPN, according to the 4th edition of the World Health Organization (WHO classification are clonal diseases of hematopoietic stem cells, in which there is increased proliferation of the myeloid series (granulocytic, erythrocytic, megakaryocytic series or mast cells

  9. Sleep-related disorders in chronic obstructive pulmonary disease.

    LENUS (Irish Health Repository)

    Crinion, Sophie J

    2014-02-01

    Sleep may have several negative consequences in patients with chronic obstructive pulmonary disease (COPD). Sleep is typically fragmented with diminished slow wave and rapid-eye-movement sleep, which likely represents an important contributing factor to daytime symptoms such as fatigue and lethargy. Furthermore, normal physiological adaptations during sleep, which result in mild hypoventilation in normal subjects, are more pronounced in COPD, which can result in clinically important nocturnal oxygen desaturation. The co-existence of obstructive sleep apnea and COPD is also common, principally because of the high prevalence of each disorder, and there is little convincing evidence that one disorder predisposes to the other. Nonetheless, this co-existence, termed the overlap syndrome, typically results in more pronounced nocturnal oxygen desaturation and there is a high prevalence of pulmonary hypertension in such patients. Management of sleep disorders in patients with COPD should address both sleep quality and disordered gas exchange. Non-invasive pressure support is beneficial in selected cases, particularly during acute exacerbations associated with respiratory failure, and is particularly helpful in patients with the overlap syndrome. There is limited evidence of benefit from pressure support in the chronic setting in COPD patients without obstructive sleep apnea.

  10. Menstrual-Cycle and Menstruation Disorders in Episodic vs Chronic Migraine: An Exploratory Study.

    Science.gov (United States)

    Spierings, Egilius L H; Padamsee, Aliya

    2015-07-01

    Migraine is a chronic condition of recurring moderate-to-severe headaches that affects an estimated 6% of men and 18% of women. The highest prevalence is in those 18-49 years of age, generally when women menstruate. It is divided into episodic and chronic migraine depending on the total number of headache days per month being 14 or less or 15 or more, respectively. Migraine has been associated with menorrhagia, dysmenorrhea, and endometriosis, the latter particularly in chronic migraine. We conducted a questionnaire survey of 96 women with migraine, 18-45 years old, to determine the occurrence of the menstrual-cycle disorders, oligomenorrhea, polymenorrhea, and irregular cycle, and the menstruation disorders, dysmenorrhea and menorrhagia, in episodic vs chronic migraine. The prevalence of menstrual-cycle disorders in general (41.2 vs 22.2%) and dysmenorrhea (51.0 vs 28.9%) was statistically significantly higher in the women with chronic migraine than in those with episodic migraine (P ≤ 0.05) (not corrected for multiple comparisons). Whether the migraine was menstruation sensitive, that is, the headaches consistently occurred or worsened with menstruation, did not impact the prevalence of menstrual disorders. We conclude that chronic migraine is possibly more often than episodic migraine associated with menstrual-cycle disorders in general and dysmenorrhea, without impact on menstruation sensitivity of the headaches. Wiley Periodicals, Inc.

  11. [Rational approach of leucocytosis in adults].

    Science.gov (United States)

    Bron, D

    2013-09-01

    Several factors may influence the increased level of white blood cells (physical and/or emotional stimuli, infections, inflammations, drugs, toxins, etc.). The best approach to identify these disorders gets through a physical examination and a precise history. A particular attention should be focused on the onset of lymph nodes and/or splenomegaly. Among severe haematological disorders to take into consideration, we should exclude acute leukemias, chronic leukemias and myeloproliferative disorders.

  12. Chronic effects of ionizing radiation on animals and humans

    International Nuclear Information System (INIS)

    Drozd, Yi.P.

    2013-01-01

    Numerous experimental radiobiological studies and medical observations were conducted after the Chernobyl disaster based on the published results; patterns and characteristics influence of the fission products of nuclear materials on the body of mammals, including humans were analyzed. Chronic exposure to low doses leads to the changes in the hemopoietic system was founded and increases the risk of myeloproliferative diseases. The consequence of radiation-related immunodeficiency is the autoimmune disease and chronic fatigue syndrome. Radiation damage leads to endocrine system disruption of the body and of polipatologycal states. High radiosensitivity of the central nervous system was founded. Genotoxic chronic radiation exposure threatens the stability of the genome

  13. Exploring sleep disorders in patients with chronic kidney disease.

    Science.gov (United States)

    Nigam, Gaurav; Camacho, Macario; Chang, Edward T; Riaz, Muhammad

    2018-01-01

    Kidney disorders have been associated with a variety of sleep-related disorders. Therefore, researchers are placing greater emphasis on finding the role of chronic kidney disease (CKD) in the development of obstructive sleep apnea and restless legs syndrome. Unfortunately, the presence of other sleep-related disorders with CKDs and non-CKDs has not been investigated with the same clinical rigor. Recent studies have revealed that myriad of sleep disorders are associated with CKDs. Furthermore, there are a few non-CKD-related disorders that are associated with sleep disorders. In this narrative review, we provide a balanced view of the spectrum of sleep disorders (as identified in International Classification of Sleep disorders-3) related to different types of renal disorders prominently including but not exclusively limited to CKD.

  14. Quality of life and self-esteem in children with chronic tic disorder.

    Science.gov (United States)

    Hesapçıoğlu, Selma Tural; Tural, Mustafa Kemal; Kandil, Sema

    2014-12-01

    In this study, it was aimed to evaluate the quality of life and self-esteem in children and adolescents with Tourette syndrome (TS) and other chronic motor or vocal tic disorders in comparison with the control group. This is the first study examining the effects of quality of life and self-esteem on each other in chronic tic disorders. Among 62 patients aged between 6 and 16 years who were diagnosed with chronic tic disorder according to the Diagnostic and Statistical Manual of Mental Disorders-IV, 57 patients who met the study inclusion criteria constituted the study group and 57 age- and gender-matched individuals constituted the control group (Ethics committee file number: 2009/69; ethics committee meeting number: 2009/14 (11.06.2009); ethics committee decision number: 16). The Rosenberg self-esteem scale, Pediatric Quality of Life Inventory, Children's Depression Inventory, Screen for Child Anxiety Related Disorders, Maudsley Obsessional Compulsive Inventory and the Schedule for Affective Disorders and Schizophrenia-Present and Lifetime version were applied to the children and adolescents. In the study group, all quality of life subtests were found to be lower compared to the control group both in children and adolescents except for self-reported emotional functionality and social functionality. Being below the age of 12 years and female gender were found to be predictors of low self-esteem in tic disorder. In the reports obtained from the children and adolescents, low self-esteem was related with decreased quality of life in all areas except for academic functionality. Children and adolescents with tic disorder experience functional disruption with a higher rate compared to the group without a psychiatric disorder or severe medical condition. Applying holistic approaches considering other clinical psychiatric symptoms as a part of chronic tic disorder will be useful in increasing the quality of life and self-esteem of these children.

  15. Associations between gender, disease features and symptom burden in patients with myeloproliferative neoplasms: an analysis by the MPN QOL International Working Group.

    Science.gov (United States)

    Geyer, Holly L; Kosiorek, Heidi; Dueck, Amylou C; Scherber, Robyn; Slot, Stefanie; Zweegman, Sonja; Te Boekhorst, Peter Aw; Senyak, Zhenya; Schouten, Harry C; Sackmann, Federico; Fuentes, Ana Kerguelen; Hernández-Maraver, Dolores; Pahl, Heike L; Griesshammer, Martin; Stegelmann, Frank; Döhner, Konstanze; Lehmann, Thomas; Bonatz, Karin; Reiter, Andreas; Boyer, Francoise; Etienne, Gabriel; Ianotto, Jean-Christophe; Ranta, Dana; Roy, Lydia; Cahn, Jean-Yves; Harrison, Claire N; Radia, Deepti; Muxi, Pablo; Maldonado, Norman; Besses, Carlos; Cervantes, Francisco; Johansson, Peter L; Barbui, Tiziano; Barosi, Giovanni; Vannucchi, Alessandro M; Paoli, Chiara; Passamonti, Francesco; Andreasson, Bjorn; Ferrari, Maria L; Rambaldi, Alessandro; Samuelsson, Jan; Cannon, Keith; Birgegard, Gunnar; Xiao, Zhijian; Xu, Zefeng; Zhang, Yue; Sun, Xiujuan; Xu, Junqing; Kiladjian, Jean-Jacques; Zhang, Peihong; Gale, Robert Peter; Mesa, Ruben A

    2017-01-01

    The myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and myelofibrosis, are distinguished by their debilitating symptom profiles, life-threatening complications and profound impact on quality of life. The role gender plays in the symptomatology of myeloproliferative neoplasms remains under-investigated. In this study we evaluated how gender relates to patients' characteristics, disease complications and overall symptom expression. A total of 2,006 patients (polycythemia vera=711, essential thrombocythemia=830, myelofibrosis=460, unknown=5) were prospectively evaluated, with patients completing the Myeloproliferative Neoplasm-Symptom Assessment Form and Brief Fatigue Inventory Patient Reported Outcome tools. Information on the individual patients' characteristics, disease complications and laboratory data was collected. Consistent with known literature, most female patients were more likely to have essential thrombocythemia (48.6% versus 33.0%; Pgender contributes to the heterogeneity of myeloproliferative neoplasms by influencing phenotypic profiles and symptom expression. Copyright© Ferrata Storti Foundation.

  16. Association between pre- and perinatal exposures and Tourette syndrome or chronic tic disorder in the ALSPAC cohort.

    Science.gov (United States)

    Mathews, Carol A; Scharf, Jeremiah M; Miller, Laura L; Macdonald-Wallis, Corrie; Lawlor, Debbie A; Ben-Shlomo, Yoav

    2014-01-01

    Tourette syndrome and chronic tic disorder are heritable but aetiologically complex. Although environment plays a role in their development, existing studies of non-genetic risk factors are inconsistent. To examine the association between pre- and perinatal exposures and Tourette syndrome/chronic tic disorder in the Avon Longitudinal Study of Parents and Children (ALSPAC) prospective longitudinal pre-birth cohort. Relationships between exposures and Tourette syndrome/chronic tic disorder were examined in 6090 children using logistic regression. Maternal alcohol and cannabis use, inadequate maternal weight gain and parity were associated with Tourette syndrome or Tourette syndrome/chronic tic disorder. Other previously reported exposures, including birth weight and prenatal maternal smoking, were not associated with Tourette syndrome/chronic tic disorder. This study supports previously reported relationships between Tourette syndrome/chronic tic disorder and prenatal alcohol exposure, and identifies additional previously unexplored potential prenatal risk factors.

  17. Limited efficacy of hydroxyurea in lowering of the JAK2 V617F allele burden

    DEFF Research Database (Denmark)

    Larsen, Thomas Stauffer; Pallisgaard, Niels; de Stricker, Karin

    2009-01-01

    Besides being an invaluable marker of clonal disease in chronic myeloproliferative disorders (CMPDs), the JAK2 V617F mutation and the mutated allele burden have an impact on disease phenotype and may provide information on prognosis. Recently, hydroxyurea (HU) has been shown to induce a rapid...

  18. Myeloproliferative neoplasms and inflammation: whether to target the malignant clone or the inflammatory process or both.

    Science.gov (United States)

    Koschmieder, S; Mughal, T I; Hasselbalch, H C; Barosi, G; Valent, P; Kiladjian, J-J; Jeryczynski, G; Gisslinger, H; Jutzi, J S; Pahl, H L; Hehlmann, R; Maria Vannucchi, A; Cervantes, F; Silver, R T; Barbui, T

    2016-05-01

    The Philadelphia-negative myeloproliferative neoplasms (MPNs) are clonal disorders involving hematopoietic stem and progenitor cells and are associated with myeloproliferation, splenomegaly and constitutional symptoms. Similar signs and symptoms can also be found in patients with chronic inflammatory diseases, and inflammatory processes have been found to play an important role in the pathogenesis and progression of MPNs. Signal transduction pathways involving JAK1, JAK2, STAT3 and STAT5 are causally involved in driving both the malignant cells and the inflammatory process. Moreover, anti-inflammatory and immune-modulating drugs have been used successfully in the treatment of MPNs. However, to date, many unresoved issues remain. These include the role of somatic mutations that are present in addition to JAK2V617F, CALR and MPL W515 mutations, the interdependency of malignant and nonmalignant cells and the means to eradicate MPN-initiating and -maintaining cells. It is imperative for successful therapeutic approaches to define whether the malignant clone or the inflammatory cells or both should be targeted. The present review will cover three aspects of the role of inflammation in MPNs: inflammatory states as important differential diagnoses in cases of suspected MPN (that is, in the absence of a clonal marker), the role of inflammation in MPN pathogenesis and progression and the use of anti-inflammatory drugs for MPNs. The findings emphasize the need to separate the inflammatory processes from the malignancy in order to improve our understanding of the pathogenesis, diagnosis and treatment of patients with Philadelphia-negative MPNs.

  19. Functional balance associated factors in the elderly with chronic vestibular disorder.

    Science.gov (United States)

    Gazzola, Juliana Maria; Perracini, Monica Rodrigues; Ganança, Maurício Malavasi; Ganança, Fernando Freitas

    2006-01-01

    Daily activities can be challenging for the elderly. To study the association between functional balance, evaluated by the Berg Balance Scale (BBS), sociodemographics, clinical and mobilility (Timed up and go test-TUGT, Dynamic Gait Index-DGI) variables in the elderly with chronic vestibular disorder. A series study with one hundred and twenty elderly with chronic vestibular disorder. We performed the Mann-Whitney test, the Kruskal-Wallis test followed by Dunn test and the Spearman Coefficient ([FORMULA: SEE TEXT]). Statistically significant associations and correlations were observed between total BBS score and age ([FORMULA: SEE TEXT]=-0.354; pfalls (p=0.010), tendency to fall (p=0.002), topographic diagnosis of central vestibular disorder (pFunctional balance in the elderly with chronic vestibular disorders evaluated by the BBS is worse when associated with aging, with a more advanced age group (80 years or more), increasing number of illnesses, presence of five or more illnesses, use of multiple medications, recurrent falls, tendency to fall, central vestibular syndromes, daily dizziness, mobility and gait impairments.

  20. Fourth revolution in psychiatry - Addressing comorbidity with chronic physical disorders.

    Science.gov (United States)

    Gautam, Shiv

    2010-07-01

    The moral treatment of mental patients, Electro Convulsive therapy (ECT), and Psychotropic medications constitute the first, second, and third revolution in psychiatry, respectively. Addressing comorbidities of mental illnesses with chronic physical illnesses will be the fourth revolution in psychiatry. Mind and body are inseparable; there is a bidirectional relationship between psyche and soma, each influencing the other. Plausible biochemical explanations are appearing at an astonishing rate. Psychiatric comorbidity with many chronic physical disorders has remained neglected. Such comorbidity with cardiac, respiratory, Gastrointestinal, endocrinal, and neurological disorders, trauma, and other conditions like HIV and so on, needs to be addressed too. Evidence base of prevalence and causal relationship of psychiatric comorbidities in these disorders has been highlighted and strategies to meet the challenge of comorbidity have been indicated.

  1. Association between pre- and perinatal exposures and Tourette syndrome or chronic tic disorder in the ALSPAC cohort†

    Science.gov (United States)

    Mathews, Carol A.; Scharf, Jeremiah M.; Miller, Laura L.; Macdonald-Wallis, Corrie; Lawlor, Debbie A.; Ben-Shlomo, Yoav

    2014-01-01

    Background Tourette syndrome and chronic tic disorder are heritable but aetiologically complex. Although environment plays a role in their development, existing studies of non-genetic risk factors are inconsistent. Aims To examine the association between pre- and perinatal exposures and Tourette syndrome/chronic tic disorder in the Avon Longitudinal Study of Parents and Children (ALSPAC) prospective longitudinal pre-birth cohort. Method Relationships between exposures and Tourette syndrome/chronic tic disorder were examined in 6090 children using logistic regression. Results Maternal alcohol and cannabis use, inadequate maternal weight gain and parity were associated with Tourette syndrome or Tourette syndrome/chronic tic disorder. Other previously reported exposures, including birth weight and prenatal maternal smoking, were not associated with Tourette syndrome/chronic tic disorder. Conclusions This study supports previously reported relationships between Tourette syndrome/chronic tic disorder and prenatal alcohol exposure, and identifies additional previously unexplored potential prenatal risk factors. PMID:24262815

  2. The longitudinal relationship between mental health disorders and chronic disease for older adults: a population-based study.

    Science.gov (United States)

    Chen, Chun-Min; Lee, I-Chen; Su, Yung-Yu; Mullan, Judy; Chiu, Herng-Chia

    2017-09-01

    Although mental health disorders in older adults are common, their relationship with chronic disease and the influence of chronic disease on the development of mental health disorders over time is not well understood. This longitudinal study investigated the change in status of mental health disorders and chronic disease, as well as their interrelationships, over time. Participants included community-dwelling older adults living in Taiwan, aged 65 years or older, who completed six waves of survey interviews. Mental health disorders were scored using the Short Psychiatric Evaluation Schedule, and chronic disease(s) status was recorded during consecutive biennial data collection waves. The autoregressive latent trajectory model and parallel latent growth curve model were used for data analysis. The study findings suggest that in older people pre-existing mental health disorders and/or chronic disease(s) will predispose them to developing significantly more mental health disorders and/or chronic diseases respectively. The study findings also suggest that pre-existing mental health disorders can significantly contribute to the development of chronic disease over time, and that pre-existing chronic disease(s) significantly can contribute to the development of mental health disorders over time, indicating a reciprocal interrelationship. Our study findings suggest that it in addition to monitoring and treating chronic disease(s) in older people, it is also important to monitor and treat their mental health disorders. Doing so will result in overall better health outcomes and will facilitate a better quality of life as they age. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  3. Soluble transferrin receptor: a differentiating marker between iron deficiency anaemia and anaemia of chronic disorders

    International Nuclear Information System (INIS)

    Saboor, M.; Moinuddin, A.; Naureen, A.

    2012-01-01

    Background: Iron deficiency anaemia and anaemia of chronic disorders are the two major causes of microcytic and hypochromic anaemia. Many times the diagnosis of these conditions becomes difficult through conventional laboratory tests. Determination of soluble transferrin receptors is a helpful laboratory test for the differential diagnosis of these conditions. The study was conducted to evaluate the role of soluble transferrin receptors in the differential diagnosis between iron deficiency anaemia and anaemia of chronic disorders. Methods: A total of 80 blood samples were evaluated, i.e., 20 samples from normal adult male, 20 samples from normal adult female, 20 samples from iron deficiency anaemia group and 20 samples from patients with anaemia of chronic disorders. Soluble transferrin receptors were determined by ELISA technique using Quantikine IVD kit (R and D Systems). Results: There was significant difference in the levels of sTfR in iron deficiency anaemia and anaemia of chronic disorders. Statistically non-significant difference was observed between the levels of sTfR in patients with anaemia of chronic disorders as compared to normal control group. Conclusion: The sTfR determination can be used as a reliable differentiating marker in the diagnosis of iron deficiency anaemia and anaemia of chronic disorders. (author)

  4. Anxiety and depressive disorders in elderly with chronic dizziness of vestibular origin

    Directory of Open Access Journals (Sweden)

    Érica Toledo Piza Peluso

    2016-04-01

    Full Text Available ABSTRACT INTRODUCTION: Dizziness is one of the most prevalent symptoms in the elderly. Anxiety and depression are common in dizzy adult patients, but there is scarce information about comorbidity between vestibular disturbances and psychiatric disorders in the aged. OBJECTIVE: To assess the prevalence of anxiety and depression disorders in elderly with chronic dizziness of vestibular origin. METHODS: Transversal study that used the Brazilian version of the Composite International Diagnostic Interview 2.1 to assess anxiety and depressive disorders in elderly patients (≥60 years old with chronic dizziness. RESULTS: Most of the 44 patients included in the study were female (88.6% with a mean age of 71 years (±7.5, 68.1% had experienced dizziness for 1 year or more. The most prevalent diagnosis was benign paroxysmal positional vertigo (52.3%. The prevalence of generalized anxiety disorder and specific phobias during life were 29.5% and 22.7%, respectively, and, in the last 12 months, 18.2% and 15.9%. There was no patient with panic disorder, agoraphobia or social phobia. The prevalence of depressive disorder during life was 45.4%, and, in the last 12 months, were 11.3%. CONCLUSION: Aged patients with chronic dizziness had high prevalence of some mental disorders.

  5. Skin prick test in patients with chronic allergic skin disorders

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    Pooja Bains

    2015-01-01

    Full Text Available Background: Chronic allergic skin disorders are the inflammatory and proliferative conditions in which both genetic and environmental factors play important roles. Chronic idiopathic urticaria (CIU and atopic dermatitis (AD are among the most common chronic allergic skin disorders. These can be provoked by various food and aeroallergens. Skin prick tests (SPTs represent the cheapest and most effective method to diagnose type I hypersensitivity. Positive skin tests with a history suggestive of clinical sensitivity strongly incriminate the allergen as a contributor to the disease process. Aim s and Objectives: To determine the incidence of positive SPT in patients with chronic allergic skin disorders and to identify the various allergens implicated in positive SPT. Methods: Fifty patients of chronic allergic disorders were recruited in this study. They were evaluated by SPT with both food and aeroallergens. Results: In our study, SPT positivity in patients of CIU was 63.41% and in AD was 77.78%. Out of the 41 patients of CIU, the most common allergen groups showing SPT positivity were dust and pollen, each comprising 26.83% patients. SPT reaction was positive with food items (21.6%, insects (17.07%, fungus (12.20%, and Dermatophagoides farinae, that is, house dust mite (HDM (7.32%. The allergen which showed maximum positivity was grain dust wheat (19.51%. Among nine patients of AD, maximum SPT positivity was seen with Dermatophagoides farinae, pollen Amaranthus spinosus, grain dust wheat, and cotton mill dust; each comprising 22.22% of patients. Conclusion: Our study showed that a significant number of patients of CIU and AD showed sensitivity to dust, pollen, insects, Dermatophagoides farinae, and fungi on SPT. Thus, it is an important tool in the diagnosis of CIU and AD.

  6. Depression in chronic respiratory disorders in a tertiary rural hospital of Central India

    Institute of Scientific and Technical Information of China (English)

    Sameer singhal; Pankaj Banode; Nitish Baisakhiya

    2009-01-01

    Objective: To determine prevalence of depression in chronic respiratory disorders in a tertiary rural hospital of Central India. Various studies done in past have shown that prevalence of depression in diabetes and hypertension is around 40%-57%. Few studies have been done to screen depression in chronic respiratory disorders. This study was conducted in a tertiary rural hospital of Central India to find out prevalence of depression in indoor patients suffering from chronic respiratory disorders. Methods: Total 68 patients were evaluated for depression. Patients suffering from chronic respiratory disorders (total duration of illness >3 months) were evaluated using Prime MD Questionnaire. Patients suffering from diabetes, heart diseases, stroke, having past history of psychiatric illness, drug abusers, having lack of social support and suffering from chronic upper respiratory tract infections were excluded from this study. Questionnaire was asked when treatment for acute phase of illness is over. Results: Out of 68 patients evaluated, 36 (53%) were found out to be suffering from depression. Female gender (80%) was more prone to depression, inspite of the fact that all alcoholics were male. 39% of all chronic obstructive pulmonary disease (COPD) patients were suffering from depression in comparison to 65% for pulmonary tuberculosis and 44% for other chronic respiratory illness. 54% of patients suffering from depression are 60 yrs of age, suggesting that age has no relation with depression. No association was seen between alcoholism and depression. Conclusion: Prevalence of depression in patients of chronic respiratory illness is very high, like in cases of diabetes and hypertension. Further community and hospital based studies are needed to find out exact prevalence of depression in chronic respiratory illnesses.

  7. The Risk of Chronic Gastrointestinal Disorders Following Acute Infection with Intestinal Parasites

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    Jason Blitz

    2018-01-01

    Full Text Available Background: Infectious gastroenteritis (IGE is caused by numerous bacterial, viral, and parasitic pathogens. A history of IGE has been shown in previous studies to increase the risk of developing chronic gastrointestinal disorders and other chronic conditions. As bacteria and viruses represent the majority of pathogen-specific causes of IGE, post-infectious studies have primarily focused on these organisms. The objective of this study was to investigate an association between a history of parasite-associated IGE and the subsequent development of chronic post-infectious gastrointestinal and non-gastrointestinal disorders in a military population.Methods: International Classification of Diseases, 9th Revision Clinical Modification (ICD-9-CM diagnostic coding data for primary exposures and outcomes were obtained for a retrospective cohort study of active component military personnel from 1998 to 2013. Exposed subjects consisted of individuals with documented infection with one of ten parasitic pathogens. Unexposed subjects were matched to exposed subjects on demographic and operational deployment history parameters. Adjusted odds ratios (aORs were estimated using logistic regression for several chronic disorders previously shown to be associated with a history of IGE.Results: A total of 896 subjects with a parasitic exposure were matched to 3681 unexposed subjects for multivariate regression analysis. Individuals infected with Balantidium coli, Ascaris lumbricoides, Strongyloides stercoralis, Necator americanus/Ancylostoma duodenale, and Taenia spp. had higher aOR for development of several chronic gastrointestinal disorders when compared with unexposed subjects after controlling for various covariates.Conclusion: We found that parasite-associated enteric infection increases the risk of development of post-infectious chronic gastrointestinal disorders in a military population. These results require confirmation in similar populations and in the

  8. Polycythemia Vera

    Science.gov (United States)

    ... Polycythemia Vera Also known as What Is Polycythemia vera (POL-e-si-THEE-me-ah VAY-rah or VE- ... MY-e-lo-PATH-ik) polycythemia Myeloproliferative (MY-e-lo-pro-LIF-er-ah-tiv) disorder Osler disease Polycythemia rubra vera Polycythemia with chronic cyanosis (SI-ah-NO-sis) ...

  9. [Approach to diagnosis and management of myeloproliferative neoplasm variants].

    Science.gov (United States)

    Mitsumori, Toru; Kirito, Keita

    2015-08-01

    Myeloproliferative neoplasm (MPN) variants are defined as relatively uncommon myeloid neoplasms which do not meet the criteria for either classical MPN or myelodysplastic syndrome. Due to the lack of specific markers, it has been challenging to accurately diagnose these malignant diseases. Recent studies have revealed new genetic abnormalities in MPN variants. These research advances are anticipated to open new approaches to not only achieving accurate diagnosis but also novel therapeutic options for these diseases.

  10. Multiparameter flow cytometry reveals myelodysplasia-related aberrant antigen expression in myelodysplastic/myeloproliferative neoplasms.

    Science.gov (United States)

    Kern, Wolfgang; Bacher, Ulrike; Schnittger, Susanne; Alpermann, Tamara; Haferlach, Claudia; Haferlach, Torsten

    2013-05-01

    Within the myelodysplastic/myeloproliferative neoplasm (MDS/MPN) category of the WHO (2008), only chronic myelomonocytic leukemia was so far evaluated by multiparameter flow cytometry (MFC). To investigate the potential of MFC for MDS/MPNs, unclassifiable (MDS/MPNu), and refractory anemia associated with ring sideroblasts and marked thrombocytosis (RARS-T), we studied 91 patients with these entities (60 males/31 females; 35.3-87.4 years) for MDS-related aberrant immunophenotypes (≥ 2 different cell lineages with ≥ 3 aberrantly expressed antigens). Data were correlated with cytomorphology and cytogenetics. MFC identified MDS-related immunophenotypes in 54/91 (59.3%) of patients. Patients with or without MDS-related immunophenotype did not differ significantly by demographic characteristics, blood values, or median overall survival. MDS-related immunophenotype cases showed a higher number of aberrantly expressed antigens (mean ± SD, 4.9 ± 2.4 vs. 2.0 ± 1.4; P MPNu and RARS-T. MFC therefore may be helpful to separate cases into more "MDS-like" or "MPN-like" subgroups. Copyright © 2012 International Clinical Cytometry Society.

  11. Increased prevalence of chronic physical health disorders in Australians with diagnosed mental illness.

    Science.gov (United States)

    Scott, David; Burke, Karena; Williams, Susan; Happell, Brenda; Canoy, Doreen; Ronan, Kevin

    2012-10-01

    To compare chronic physical health disorder prevalence amongst Australian adults with and without mental illness. Total n=1,716 participants (58% female) with a mean age of 52 ± 13 years (range: 18 to 89 years) completed an online survey of Australian adults in 2010. Outcome measures including prevalence of chronic physical conditions and self-reported body mass index (BMI) in n=387 (23%) with a self-reported mental illness diagnosis were compared to respondents without mental illness. A significantly higher proportion of participants with mental illness were obese (BMI ≥ 30; 31 vs 24%, p=0.005). Adjusted odds ratios (OR) for coronary heart disease, diabetes, chronic bronchitis or emphysema, asthma, irritable bowel syndrome, and food allergies or intolerances (OR range: 1.54-3.19) demonstrated that chronic physical disorders were significantly more common in participants with a mental illness. Australian adults with a diagnosis for mental illness have a significantly increased likelihood of demonstrating chronic physical health disorders compared to persons without mental illness. Health professionals must be alert to the increased likelihood of comorbid chronic physical disorders in persons with a mental illness and should consider the adoption of holistic approaches when treating those with either a mental or physical illness. © 2012 The Authors. ANZJPH © 2012 Public Health Association of Australia.

  12. Chronic effects of ionizing radiation on animals and humans

    Directory of Open Access Journals (Sweden)

    I. P. Drozd

    2013-03-01

    Full Text Available Numerous experimental radiobiological studies and medical observations were conducted after the Chernobyl disaster based on the published results; patterns and characteristics influence of the fission products of nuclear materials on the body of mammals, including humans were analyzed. Chronic exposure to low doses leads to the changes in the hemopoietic system was founded and increases the risk of myeloproliferative diseases. The con-sequence of radiation-related immunodeficiency is the autoimmune disease and chronic fatigue syndrome. Radi-ation damage leads to endocrine system disruption of the body and of polipatologycal states. High radiosensitivi-ty of the central nervous system was founded. Genotoxic chronic radiation exposure threatens the stability of the genome.

  13. Atopic dermatitis-like disease and associated lethal myeloproliferative disorder arise from loss of Notch signaling in the murine skin.

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    Alexis Dumortier

    2010-02-01

    Full Text Available The Notch pathway is essential for proper epidermal differentiation during embryonic skin development. Moreover, skin specific loss of Notch signaling in the embryo results in skin barrier defects accompanied by a B-lymphoproliferative disease. However, much less is known about the consequences of loss of Notch signaling after birth.To study the function of Notch signaling in the skin of adult mice, we made use of a series of conditional gene targeted mice that allow inactivation of several components of the Notch signaling pathway specifically in the skin. We demonstrate that skin-specific inactivation of Notch1 and Notch2 simultaneously, or RBP-J, induces the development of a severe form of atopic dermatitis (AD, characterized by acanthosis, spongiosis and hyperkeratosis, as well as a massive dermal infiltration of eosinophils and mast cells. Likewise, patients suffering from AD, but not psoriasis or lichen planus, have a marked reduction of Notch receptor expression in the skin. Loss of Notch in keratinocytes induces the production of thymic stromal lymphopoietin (TSLP, a cytokine deeply implicated in the pathogenesis of AD. The AD-like associated inflammation is accompanied by a myeloproliferative disorder (MPD characterized by an increase in immature myeloid populations in the bone marrow and spleen. Transplantation studies revealed that the MPD is cell non-autonomous and caused by dramatic microenvironmental alterations. Genetic studies demontrated that G-CSF mediates the MPD as well as changes in the bone marrow microenvironment leading to osteopenia.Our data demonstrate a critical role for Notch in repressing TSLP production in keratinocytes, thereby maintaining integrity of the skin and the hematopoietic system.

  14. Methylphenidate in Treatment of ADHD and Comorbid Chronic Tic Disorder

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    J Gordon Millichap

    2007-07-01

    Full Text Available The safety and efficacy of immediate-release methylphenidate (MPH-IR for the treatment of attention deficit hyperactivity disorder (ADHD in children (ages 6-12 years with Tourette's syndrome (96% or chronic motor tic disorder (4% were evaluated at State University of New York, Stony Brook.

  15. Generalized anxiety disorder: acute and chronic treatment.

    Science.gov (United States)

    Rynn, Moira A; Brawman-Mintzer, Olga

    2004-10-01

    Clinical and epidemiological data suggest that generalized anxiety disorder (GAD) is a chronic illness causing patients to suffer for many years leading to significant distress in daily life functioning. The literature suggests the several conclusions. GAD is a disorder in need of appropriate treatment and often has a chronic course with comorbid conditions, such as major depression and other anxiety disorders. Benzodiazepines, while effective anxiolytic agents acutely, when prescribed for >4 weeks cause rebound anxiety and following prolonged therapy may lead to withdrawal symptoms. Antidepressants cause significant anxiety relief compared with placebo and for psychosocial treatment cognitive-behavioral therapy is an efficacious psychosocial treatment. Many GAD patients are in need of long-term medication management. Furthermore, there is limited data for patients diagnosed with GAD the treatment outcome with the combination of medication and psychotherapy both acutely and long-term; how to best sequence these treatments; for those patients who do not meet remission criteria what is the ideal approach for augmentation; and for patients with treatment-refractory GAD the empirical evidence is lacking on medication switching and augmentation strategies. Research is needed in the area of developing treatment strategies for patients suffering from treatment-refractory GAD. There is still an urgent need to explore treatment combinations and duration strategies in the management of patients suffering with GAD.

  16. Prevalence of neuroleptic-induced movement disorders in chronic schizophrenia inpatients.

    Science.gov (United States)

    Janno, Sven; Holi, Matti; Tuisku, Katinka; Wahlbeck, Kristian

    2004-01-01

    Since most of the world's schizophrenia patients are treated with conventional antipsychotics, the authors evaluated various methods for establishing the prevalence of neuroleptic-induced movement disorders in these patients. DSM-IV criteria and established score thresholds on a movement disorder rating scale were used to identify cases of neuroleptic-induced movement disorder in a representative Estonian patient sample of 99 chronic institutionalized schizophrenia patients, 18-65 years old, treated with conventional neuroleptics (79.8%) or clozapine (20.2%). Neuroleptic-induced movement disorders according to DSM-IV criteria were found in 61.6% of the group: 31.3% had neuroleptic-induced akathisia, 23.2% had neuroleptic-induced parkinsonism, and 32.3% had neuroleptic-induced tardive dyskinesia. Prevalence rates for akathisia and tardive dyskinesia were similar when either DSM-IV criteria or rating scale scores were used, but the prevalence rate for parkinsonism was much lower per DSM-IV criteria than according to rating scale score. Nearly two-thirds of chronic schizophrenia patients suffered from a neuroleptic-induced movement disorder. Globally, extrapyramidal adverse effects still impose a huge burden on the majority of neuroleptic-treated individuals with schizophrenia. The discrepancy between the standard identification methods for neuroleptic-induced movement disorder indicate the need for further research.

  17. Chronic obstructive pulmonary disease and sleep related disorders.

    Science.gov (United States)

    Tsai, Sheila C

    2017-03-01

    Sleep related disorders are common and under-recognized in the chronic obstructive pulmonary disease (COPD) population. COPD symptoms can disrupt sleep. Similarly, sleep disorders can affect COPD. This review highlights the common sleep disorders seen in COPD patients, their impact, and potential management. Treatment of sleep disorders may improve quality of life in COPD patients. Optimizing inhaler therapy improves sleep quality. Increased inflammatory markers are noted in patients with the overlap syndrome of COPD and obstructive sleep apnea versus COPD alone. There are potential benefits of noninvasive positive pressure ventilation therapy for overlap syndrome patients with hypercapnia. Nocturnal supplemental oxygen may be beneficial in certain COPD subtypes. Nonbenzodiazepine hypnotic therapy for insomnia has shown benefit without associated respiratory failure or worsening respiratory symptoms. Melatonin may provide mild hypnotic and antioxidant benefits. This article discusses the impact of sleep disorders on COPD patients and the potential benefits of managing sleep disorders on respiratory disease control and quality of life.

  18. Evidence-Based Pharmacotherapy for Pediatric Obsessive-Compulsive Disorder and Chronic Tic Disorders

    Directory of Open Access Journals (Sweden)

    Alessandro S. De Nadai

    2011-01-01

    Full Text Available In recent years, much progress has been made in pharmacotherapy for pediatric obsessive-compulsive disorder (OCD and chronic tic disorders (CTDs. What were previously considered relatively intractable conditions now have an array of efficacious medicinal (and psychosocial interventions available at clinicians' disposal, including selective serotonin reuptake inhibitors, atypical antipsychotics, and alpha-2 agonists. The purpose of this review is to discuss the evidence base for pharmacotherapy with pediatric OCD and CTDs with regard to efficacy, tolerability, and safety, and to put this evidence in the context of clinical management in integrated behavioral healthcare. While there is no single panacea for these disorders, there are a variety of medications that provide considerable relief for children with these disabling conditions.

  19. Evidence-Based Pharmacotherapy for Pediatric Obsessive-Compulsive Disorder and Chronic Tic Disorders

    Science.gov (United States)

    De Nadai, Alessandro S.; Storch, Eric A.; McGuire, Joseph F.; Lewin, Adam B.; Murphy, Tanya K.

    2011-01-01

    In recent years, much progress has been made in pharmacotherapy for pediatric obsessive-compulsive disorder (OCD) and chronic tic disorders (CTDs). What were previously considered relatively intractable conditions now have an array of efficacious medicinal (and psychosocial) interventions available at clinicians’ disposal, including selective serotonin reuptake inhibitors, atypical antipsychotics, and alpha-2 agonists. The purpose of this review is to discuss the evidence base for pharmacotherapy with pediatric OCD and CTDs with regard to efficacy, tolerability, and safety, and to put this evidence in the context of clinical management in integrated behavioral healthcare. While there is no single panacea for these disorders, there are a variety of medications that provide considerable relief for children with these disabling conditions. PMID:23861643

  20. The impacts of migraine, anxiety disorders, and chronic depression on quality of life in psychiatric outpatients with major depressive disorder.

    Science.gov (United States)

    Hung, Ching-I; Wang, Shuu-Jiun; Yang, Ching-Hui; Liu, Chia-Yih

    2008-08-01

    Our purpose was to determine if migraine, anxiety comorbidities, and chronic depression were independently related to health-related quality of life (HRQoL) in outpatients with major depressive disorder (MDD). Consecutive psychiatric outpatients with MDD in a medical center were enrolled. MDD, chronic depression, and seven anxiety disorders were diagnosed using the Structured Clinical Interview for DSM-IV-TR. Migraine was diagnosed based on the International Classification of Headache Disorders, 2nd edition. The acute version of the Short-Form 36 and the Hamilton Depression Rating Scale (HAMD) were used to evaluate the HRQoL and the severity of depression, respectively. Multiple linear regressions were used to determine the independent factors related to HRQoL. There were 135 participants (34 men, 101 women) with MDD. Subjects with migraine, anxiety comorbidities, or chronic depression had higher HAMD scores and poor HRQoL. Migraine, specific phobia, and panic disorder were important and independent comorbidities predicting HRQoL. The impact of migraine on HRQoL, especially on bodily pain, was not inferior to those of some anxiety comorbidities or chronic depression. Future studies related to HRQoL of MDD should consider migraine and anxiety comorbidities simultaneously.

  1. Addressing Neuroplastic Changes in Distributed Areas of the Nervous System Associated With Chronic Musculoskeletal Disorders.

    Science.gov (United States)

    Pelletier, René; Higgins, Johanne; Bourbonnais, Daniel

    2015-11-01

    Present interventions utilized in musculoskeletal rehabilitation are guided, in large part, by a biomedical model where peripheral structural injury is believed to be the sole driver of the disorder. There are, however, neurophysiological changes across different areas of the peripheral and central nervous systems, including peripheral receptors, dorsal horn of the spinal cord, brain stem, sensorimotor cortical areas, and the mesolimbic and prefrontal areas associated with chronic musculoskeletal disorders, including chronic low back pain, osteoarthritis, and tendon injuries. These neurophysiological changes appear not only to be a consequence of peripheral structural injury but also to play a part in the pathophysiology of chronic musculoskeletal disorders. Neurophysiological changes are consistent with a biopsychosocial formulation reflecting the underlying mechanisms associated with sensory and motor findings, psychological traits, and perceptual changes associated with chronic musculoskeletal conditions. These changes, therefore, have important implications in the clinical manifestation, pathophysiology, and treatment of chronic musculoskeletal disorders. Musculoskeletal rehabilitation professionals have at their disposal tools to address these neuroplastic changes, including top-down cognitive-based interventions (eg, education, cognitive-behavioral therapy, mindfulness meditation, motor imagery) and bottom-up physical interventions (eg, motor learning, peripheral sensory stimulation, manual therapy) that induce neuroplastic changes across distributed areas of the nervous system and affect outcomes in patients with chronic musculoskeletal disorders. Furthermore, novel approaches such as the use of transcranial direct current stimulation and repetitive transcranial magnetic stimulation may be utilized to help renormalize neurological function. Comprehensive treatment addressing peripheral structural injury as well as neurophysiological changes occurring across

  2. Comparative study of different methodologies to detect the JAK2 V617F mutation in chronic BCR-ABL1 negative myeloproliferative neoplasms

    Directory of Open Access Journals (Sweden)

    Alline Didone

    2016-04-01

    Full Text Available Objectives: A mutation in the JAK2 gene, V617F, has been identified in several BCR-ABL1 negative myeloproliferative neoplasms (MPN: polycythemia vera (PV, essential thrombocythemia (ET, and primary myelofibrosis (PMF. Defining the presence or absence of this mutation is an essential part of clinical diagnostic algorithms and patient management. Here, we aimed to evaluate the performance of three PCR-based assays: Amplification Refractory Mutation System (ARMS, High-Resolution Melting analysis (HRM, and Sanger direct sequencing, and compare their results with those obtained by a PCR restriction fragment polymorphism assay (PCR-RFLP. Design and methods: We used blood samples from 136 patients (PV=20; PMF=20; ET=28, and other MPN suspected cases=68. Results: Comparable results were observed among the four assays in patients with PV, PMF, and MPN suspected cases. In patients with a diagnosis of ET, the JAK2 V617F mutation was detected in 67.8% of them by the PCR-ARMS and PCR-HRM assay and in 64% of them by the conventional Sanger sequence approach. The PCR-ARMS and PCR-HRM assays were 100% concordant. With these tests, only one of the 20 patients with ET and one of the three patients with clinically suspected MPN gave different results compared with those obtained by the PCR-RFLP. Conclusions: Our results have demonstrated that the PCR-ARMS and PCR-HRM assays could detect the JAK2 V617F mutation effectively in MPN patients, but PCR-HRM assays are rapid and the most cost-effective procedures. Keywords: Myeloproliferative, JAK2 V617F, Mutation, Wild type, Screening

  3. Severity of Anxiety Disorders in Patients with Chronic Obstructive Pulmonary Disease

    Directory of Open Access Journals (Sweden)

    Mitra Safa

    2015-10-01

    Full Text Available Objective: Patients with chronic physical diseases sometimes show increased loss of function; such patients need more care. Anxiety is a well-known symptom that is prevalent among chronic obstructive pulmonary disease patients that can prolong and increase the risk of hospitalization. The purpose of this study was to evaluate the severity of anxiety in the mentioned patients and to examine the presence of symptoms and appropriate treatment strategies to understand the role of psychological functions in physical patients.Methods: This was a cross sectional study conducted in Masih Daneshvari Hospital. One hundred forty- three patients entered into the project by accessible method and signed the informed consent; they filled demographic information and Hamilton anxiety and depression questionnaires. Data were analyzed by SPSS-16 .Results: Of the participants, 68% were above 60 years of age; 78% were male; 89% were married; and 38% were self-employed. Also, among the participants, 51% were illiterate; 72% had history of smoking; 46% had history of substance abuse; and 49% had moderate to severe anxiety disorder. Moreover, of the patients with severe anxiety, 41.3% had severe muscle spasms; and severe sleeplessness was found in 38.5% of those with severe anxiety disorder. Severe anxiety related symptoms were found in 20.3% of the patients with severe anxiety disorder. Depressed mood was found in 27.3% of the patients with severe anxiety disorder. Severe physical and muscular signs were found in 35.7% of those with severe anxiety disorder .Conclusion: According to our findings, many chronic diseases such as chronic obstructive pulmonary disease may contain anxiety and depression which result in vulnerability. Therefore, evaluation of anxiety in such patients is of importance for alleviating the disease.

  4. Ten-year prevalence of mental disorders in patients presenting with chronic pain in secondary care

    DEFF Research Database (Denmark)

    Søndergård, S; Vaegter, H B; Erlangsen, A

    2018-01-01

    BACKGROUND: Prevalence rates of mental disorders in patients with chronic pain vary and may be overestimated when assessed by screening instruments only. Objectives were to estimate the 10-year prevalence of different mental disorders diagnosed by psychiatrists in patients with chronic pain compa...

  5. Familial chronic lymphocytic leukemia in Norway and Denmark. Comments on pleiotropy and birth order.

    Science.gov (United States)

    Jønsson, Viggo; Tjønnfjord, Geir E; Johannesen, Tom B; Ly, Bernt; Olsen, Jørgen H; Yuille, Martin

    2010-01-01

    To investigate the genetics of chronic lymphocytic leukemia (CLL). In 56 (7%) out of 800 CLL patients with concomitant malignant hematological disease, 51 families and 141 cases were ascertained. 106 cases (75%) of CLL, 27 cases (19%) of nonCLL and 8 cases (6%) of myeloproliferative disorders. Paternal disease was transmitted primarily to the youngest sons in the sibship while maternal disease was transmitted equally to all sibs, demonstrated by means of matrix conjugation and confirmed with Cox regression on parity and birth order (maternal-offspring combination: relative risk (RR), 95% confidence interval (CI)=1.47 (0.89 - 2.43), p=0.12, compared with paternal-offspring combination: RR=3.25, 95% CI=(1.57-6.72), p<0.001). The B-cell expression in familial and sporadic CLL was indistinguishable. Parental genomic imprinting is pointed out as one possible mechanism behind this non-Mendelian genomic output.

  6. Comparative Study of Children with ADHD Only, Autism Spectrum Disorder + ADHD, and Chronic Multiple Tic Disorder + ADHD

    Science.gov (United States)

    Gadow, Kenneth D.; DeVincent, Carla J.; Schneider, Jayne

    2009-01-01

    Objective: Identification of differences among children with ADHD only, autism spectrum disorder (ASD)+ADHD, and chronic multiple tic disorder (CMTD)+ADHD may lead to better understanding of clinical phenotypes. Method: Children were evaluated using the parent- and teacher-completed questionnaires. Results: All three groups were highly similar in…

  7. Differential Requirements for c-Myc in Chronic Hematopoietic Hyperplasia and Acute Hematopoietic Malignancies in Pten-null Mice

    Science.gov (United States)

    Zhang, Jun; Xiao, Yechen; Guo, Yinshi; Breslin, Peter; Zhang, Shubin; Wei, Wei; Zhang, Zhou; Zhang, Jiwang

    2011-01-01

    Myeloproliferative disorders (MPDs), lymphoproliferative disorders (LPDs), acute T-lymphocytic or myeloid leukemia and T-lymphocytic lymphoma were developed in inducible Pten-knockout (Pten−/−) mice. The appearance of these multiple diseases in one animal model provides an opportunity to study the pathogenesis of multiple diseases simultaneously. To study whether Myc function is required for the development of these hematopoietic disorders in Pten−/− mice, we generated inducible Pten/Myc double-knockout mice (Pten−/−/Myc−/−). By comparing the hematopoietic phenotypes of these double-knockout mice with those of Pten−/− mice, we found that both sets of animals developed MPDs and LPDs. However, none of the compound-mutant mice developed acute leukemia or lymphoma. Interestingly, in contrast to the MPDs which developed in Pten−/− mice which are dominated by granulocytes, megakaryocytes predominate in the MPDs of Pten−/−/Myc−/− mice. Our study suggests that the deregulation of PI3K/Akt signaling in Pten−/− hematopoietic cells protects these cells from apoptotic cell death, resulting in chronic proliferative disorders. But due to the differential requirement for Myc in granulocyte as compared to megakaryocyte proliferation, Myc deletion converts Pten−/− MPDs from granulocyte-dominated to megakaryocyte-dominated conditions. Myc is absolutely required for the development of acute hematopoietic malignancies. PMID:21926961

  8. Acute leukaemoid reaction following cardiac surgery

    Directory of Open Access Journals (Sweden)

    Webb Stephen T

    2007-01-01

    Full Text Available Abstract Chronic myelomonocytic leukaemia is an atypical myeloproliferative disorder with a natural history of progression to acute myeloid leukaemia, a complex and poorly understood response by the bone marrow to stress. Cardiac surgery activates many inflammatory cascades and may precipitate a systemic inflammatory response syndrome. We present a case of undiagnosed chronic myelomonocytic leukaemia who developed rapidly fatal multi-organ dysfunction following cardiac surgery due to an acute leukaemoid reaction.

  9. Borderline Personality Disorder Features Are Associated with Concurrent Pain-Related Disability in a Chronic Pain Sample.

    Science.gov (United States)

    Reynolds, Caleb J; Tragesser, Sarah L

    2018-04-03

    To determine whether core features of borderline personality disorder are associated with increased rates of being on disability benefits due to chronic pain conditions. A total of 147 patients currently in treatment for chronic pain at a multimodal chronic pain clinic. We tested for a concurrent relationship between borderline personality disorder features and employment status using self-report measures. Borderline personality disorder features were associated with increased likelihood of currently being on disability due to pain conditions (odds ratio [OR] = 23.13, 95% confidence interval [CI] = 1.68-318.73), on disability due to other conditions (OR = 33.65, 95% CI = 2.15-526.13), and unemployed (OR = 20.14, 95% CI = 1.38-294.93), even while controlling for pain severity and interference, depression, and trait anxiety. A follow-up analysis revealed that these associations were due to the negative relationships facet of borderline personality disorder features. Borderline personality disorder features, particularly negative relationships, are associated with increased rates of pain disability, general disability, and unemployment in a chronic pain sample. Future research should examine mechanisms by which the maladaptive interpersonal behaviors and cognitions of borderline personality disorder might result in worse long-term employment outcomes of chronic pain.

  10. Socioeconomic Factors and Work Disability: Clues to Managing Chronic Pain Disorder

    Directory of Open Access Journals (Sweden)

    Robert W Teasell

    1999-01-01

    Full Text Available Disability is a multifactorial phenomena in chronic pain disorders, as it is for other painful and nonpainful medical conditions. Socioeconomic factors are important determinants of disability, although this aspect of disability in chronic pain disorders is often ignored. Lower socioeconomic status has been shown to be associated with an increase in the frequency and severity of disability, and the rate of progression to disability in patients with chronic pain. Work disability in lower socioeconomic groups is associated with issues of physical work demands and work flexibility (ie, the ability to control the pace of work, take unscheduled breaks or engage in modified work. Workplace interventions, particularly in the subacute phase, that are geared to workers' limitations offer the best opportunity to reduce the current burden of disability. Where such work modifications are not available, disability will be problematic.

  11. Temporomandibular disorders, headaches and chronic pain.

    Science.gov (United States)

    Zakrzewska, Joanna M

    2015-03-01

    Temporomandibular disorders (TMDs) are a major cause of non-dental orofacial pain with a suggested prevalence of 3% to 5% in the general population. TMDs present as unilateral or bilateral pain centered round the pre-auricular area and can be associated with clicking and limitation in jaw movements. It is important to ascertain if there are other comorbid factors such as headaches, widespread chronic pain and mood changes. A biopsychosocial approach is crucial with a careful explanation and self-care techniques encouraged.

  12. Chronic pain among patients with opioid use disorder: Results from electronic health records data.

    Science.gov (United States)

    Hser, Yih-Ing; Mooney, Larissa J; Saxon, Andrew J; Miotto, Karen; Bell, Douglas S; Huang, David

    2017-06-01

    To examine the prevalence of comorbid chronic pain among patients with opioid use disorder (OUD) and to compare other comorbidities (substance use disorder (SUD), mental health disorders, health/disease conditions) among patients in four categories: no chronic pain (No Pain), OUD prior to pain (OUD First), OUD and pain at the same time (Same Time), or pain condition prior to OUD (Pain First). Using an electronic health record (EHR) database from 2006-2015, the study assessed 5307 adult patients with OUD in a large healthcare system; 35.6% were No Pain, 9.7% were OUD First, 14.9% were Same Time, and 39.8% were Pain First. Most OUD patients (64.4%) had chronic pain conditions, and among them 61.8% had chronic pain before their first OUD diagnosis. Other SUDs occurred more frequently among OUD First patients than among other groups in terms of alcohol (33.4% vs. 25.4% for No Pain, 20.7% for Same Time, and 20.3% for Pain First), cocaine (19.0%, vs. 13.8%, 9.4%, 7.1%), and alcohol or drug-induced disorders. OUD First patients also had the highest rates of HIV (4.7%) and hepatitis C virus (HCV; 28.2%) among the four groups. Pain First patients had the highest rates of mental disorder (81.7%), heart disease (72.0%), respiratory disease (68.4%), sleep disorder (41.8%), cancer (23.4%), and diabetes (19.3%). The alarming high rates of chronic pain conditions occurring before OUD and the associated severe mental health and physical health conditions require better models of assessment and coordinated care plans to address these complex medical conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Optimal management of bone mineral disorders in chronic kidney disease and end stage renal disease.

    Science.gov (United States)

    Lundquist, Andrew L; Nigwekar, Sagar U

    2016-03-01

    The review summarizes recent studies on chronic kidney disease-mineral bone disorders, with a focus on new developments in disease management. The term chronic kidney disease-mineral bone disorder has come to describe an increasingly complex network of alterations in minerals and skeletal disorders that contribute to the significant cardiovascular morbidity and mortality seen in patients with chronic kidney disease and end stage renal disease. Clinical studies continue to suggest associations with clinical outcomes, yet current clinical trials have failed to support causality. Variability in practice exists as current guidelines for management of mineral bone disorders are often based on weak evidence. Recent studies implicate novel pathways for therapeutic intervention in clinical trials. Mineral bone disorders in chronic kidney disease arise from alterations in a number of molecules in an increasingly complex physiological network interconnecting bone and the cardiovascular system. Despite extensive associations with improved outcomes in a number of molecules, clinical trials have yet to prove causality and there is an absence of new therapies available to improve patient outcomes. Additional clinical trials that can incorporate the complexity of mineral bone disorders, and with the ability to intervene on more than one pathway, are needed to advance patient care.

  14. Granulocytic Sarcoma in a Nonleukemic Patient: Place of Radiotherapy and Systemic Therapies

    Directory of Open Access Journals (Sweden)

    C. Chargari

    2011-01-01

    Full Text Available Granulocytic sarcoma is a rare extramedullary tumour, which most often occurs in the course of an acute or chronic leukaemia or myeloproliferative disorders. Rarely it is found before peripheral blood or bone marrow evidence of leukemia is present. We report an unusual case of acute paraplegia at first presentation of a spinal epidural granulocytic sarcoma without any haematological disorder. Therapeutic strategies are discussed in the light of the literature.

  15. Relationships between Premonitory Urge and Anxiety in Youth with Chronic Tic Disorders

    OpenAIRE

    Rozenman, Michelle; Johnson, Olivia E.; Chang, Susanna W.; Woods, Douglas W.; Walkup, John T.; Wilhelm, Sabine; Peterson, Alan; Scahill, Lawrence; Piacentini, John

    2014-01-01

    Tourette's Disorder and other chronic tic disorders are common neurodevelopmental conditions. One characteristic of tic disorders is the premonitory urge, an aversive or unpleasant sensory phenomenon that may precede tics. Initial examination of premonitory urge in pediatric tic disorders suggests that awareness and experience of sensations preceding tics may be related to anxiety and OCD. However, it may be possible that specific anxiety-related symptoms, such as anxious physiologic arousal,...

  16. Chronic Kidney Disease-Mineral Bone Disorder in the Elderly Peritoneal Dialysis Patient

    DEFF Research Database (Denmark)

    Heaf, James Goya

    2015-01-01

    PURPOSE: The purpose of this paper was to review the literature concerning the treatment of chronic kidney disease-mineral bone disorder (CKD-MBD) in the elderly peritoneal dialysis (PD) patient. ♦ RESULTS: Chronic kidney disease-mineral bone disorder is a major problem in the elderly PD patient......, with its associated increased fracture risk, vascular calcification, and accelerated mortality fracture risk. Peritoneal dialysis, however, bears a lower risk than hemodialysis (HD). The approach to CKD-MBD prophylaxis and treatment in the elderly PD patient is similar to other CKD patients, with some...

  17. Prevalence and clinical profile of chronic pain and its association with mental disorders

    Directory of Open Access Journals (Sweden)

    Flávia Garcia Pereira

    2017-11-01

    Full Text Available ABSTRACT OBJECTIVE To identify the prevalence of 12-month self-reported pain and chronic pain in a general population and to describe their clinical profile to assess if chronic pain is associated with 12-month mental disorders. METHODS The data used comes from the São Paulo Megacity Mental Health Survey, a population-based study assessing adult (≥ 18 years residents of the São Paulo metropolitan area, Brazil. We have assessed the respondents (n = 5,037 using the Composite International Diagnostic Interview (CIDI 3.0, with a global response rate of 81.3%. Descriptive analyses have been performed, and crude and adjusted odds ratios (OR have been calculated with logistic and multinomial regression and presented with respective 95% confidence intervals (95%CI. RESULTS The prevalence of pain and chronic pain in the past 12 months were 52.6% (95%CI 50.3–54.8 and 31.0% (95%CI 29.2–32.7, respectively. Joints (16.5%, 95%CI 15.4–17.5 and back or neck (15.5%, 95%CI 14.2–16.9 were the most frequently reported anatomical sites of chronic pain. On a 10-point analogue scale, the mean intensity of the worst pain was 7.7 (95%CI 7.4–7.8, and the mean average pain was 5.5 (95%CI 5.2–5.6; the mean treatment response was 6.3 (95%CI 6.0–6.6. Mean pain duration was 16.1 (95%CI 15.6–17.0 days a month and 132 (95%CI 126–144 minutes a day. Chronic pain was associated with 12-month DSM-IV mental disorders (OR = 2.7, 95%CI 2.3–3.3, anxiety disorders (OR = 2.1, 95%CI 1.9–3.0, and mood disorders (OR = 3.3, 95%CI 2.4–4.1. CONCLUSIONS A high prevalence of chronic pain in multiple sites is observed among the general adult population, and associations between chronic pain and mental disorders are frequent.

  18. Undiagnosed and comorbid disorders in patients with presumed chronic fatigue syndrome.

    Science.gov (United States)

    Mariman, An; Delesie, Liesbeth; Tobback, Els; Hanoulle, Ignace; Sermijn, Erica; Vermeir, Peter; Pevernagie, Dirk; Vogelaers, Dirk

    2013-11-01

    To assess undiagnosed and comorbid disorders in patients referred to a tertiary care center with a presumed diagnosis of chronic fatigue syndrome (CFS). Patients referred for chronic unexplained fatigue entered an integrated diagnostic pathway, including internal medicine assessment, psychodiagnostic screening, physiotherapeutic assessment and polysomnography+multiple sleep latency testing. Final diagnosis resulted from a multidisciplinary team discussion. Fukuda criteria were used for the diagnosis of CFS, DSM-IV-TR criteria for psychiatric disorders, ICSD-2 criteria for sleep disorders. Out of 377 patients referred, 279 (74.0%) were included in the study [84.9% female; mean age 38.8years (SD 10.3)]. A diagnosis of unequivocal CFS was made in 23.3%. In 21.1%, CFS was associated with a sleep disorder and/or psychiatric disorder, not invalidating the diagnosis of CFS. A predominant sleep disorder was found in 9.7%, 19.0% had a psychiatric disorder and 20.8% a combination of both. Only 2.2% was diagnosed with a classical internal disease. In the total sample, a sleep disorder was found in 49.8%, especially obstructive sleep apnea syndrome, followed by psychophysiologic insomnia and periodic limb movement disorder. A psychiatric disorder was diagnosed in 45.2%; mostly mood and anxiety disorder. A multidisciplinary approach to presumed CFS yields unequivocal CFS in only a minority of patients, and reveals a broad spectrum of exclusionary or comorbid conditions within the domains of sleep medicine and psychiatry. These findings favor a systematic diagnostic approach to CFS, suitable to identify a wide range of diagnostic categories that may be subject to dedicated care. © 2013. Published by Elsevier Inc. All rights reserved.

  19. Chronic pain and difficulty in relaxing postural muscles in patients with fibromyalgia and chronic whiplash associated disorders.

    Science.gov (United States)

    Elert, J; Kendall, S A; Larsson, B; Månsson, B; Gerdle, B

    2001-06-01

    To investigate if muscle tension according to the surface electromyogram (EMG) of the shoulder flexors is increased in consecutive patients with fibromyalgia (FM) or chronic whiplash associated disorders (WAD). A total of 59 consecutive patients with FM (n = 36) or chronic WAD (n = 23) performed 100 maximal isokinetic contractions combined with surface electromyography of the trapezius and infraspinatus. A randomized group of pain-free female (n = 27) subjects served as control group. Peak torque initially (Pti) and absolute and relative peak torque at endurance level (PTe, PTer) were registered as output variables, together with the EMG level of unnecessary muscle tension, i.e., the signal amplitude ratio (SAR). The patient groups had a higher level of unnecessary tension initially and at the endurance level. The patients had lower absolute output (PTi and PTe), but the relative levels (PTer) did not differ comparing all 3 groups. Subjects with FM had significantly higher body mass index (BMI) than the other groups. BMI did not influence the SAR but correlated positively with PTi. The results confirmed earlier findings that groups of patients with chronic pain have increased muscle tension and decreased output during dynamic activity compared to pain-free controls. However, the results indicated there is heterogeneity within groups of patients with the same chronic pain disorder and that not all patients with chronic pain have increased muscle tension.

  20. Chronic Pain and Mental Health Disorders: Shared Neural Mechanisms, Epidemiology, and Treatment.

    Science.gov (United States)

    Hooten, W Michael

    2016-07-01

    Chronic pain and mental health disorders are common in the general population, and epidemiological studies suggest that a bidirectional relationship exists between these 2 conditions. The observations from functional imaging studies suggest that this bidirectional relationship is due in part to shared neural mechanisms. In addition to depression, anxiety, and substance use disorders, individuals with chronic pain are at risk of other mental health problems including suicide and cigarette smoking and many have sustained sexual violence. Within the broader biopsychosocial model of pain, the fear-avoidance model explains how behavioral factors affect the temporal course of chronic pain and provides the framework for an array of efficacious behavioral interventions including cognitive-behavioral therapy, acceptance-based therapies, and multidisciplinary pain rehabilitation. Concomitant pain and mental health disorders often complicate pharmacological management, but several drug classes, including serotonin-norepinephrine reuptake inhibitors, tricyclic antidepressants, and anticonvulsants, have efficacy for both conditions and should be considered first-line treatment agents. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  1. Self-concept and self-esteem in patients with chronic tic disorders: A systematic literature review.

    Science.gov (United States)

    Silvestri, Paola R; Baglioni, Valentina; Cardona, Francesco; Cavanna, Andrea E

    2018-05-24

    Chronic tic disorders are neurodevelopmental conditions characterized by the presence of motor and/or phonic tics and often accompanied by co-morbid behavioral problems. Chronic tic disorders can negatively affect the level of functioning of young patients across social and family domains, with possible repercussions on their self-perception. We conducted a systematic literature review to assess the clinical correlates of both components of self-perception (self-concept, i.e. what patients think about themselves, and self-esteem, i.e. how they feel about their self-concept) in patients with chronic tic disorders. Reported levels of self-perception varied widely across studies, partly due to the methodological heterogeneity of the reviewed literature. Poor self-concept and self-esteem appeared to be more strongly related to the presence of psychiatric co-morbidities (especially obsessive-compulsive disorder, attention-deficit and hyperactivity disorder, and anxiety disorders) than to tic severity. Poor peer relationship, social difficulties, as well as problems with parents' acceptance were identified as further risk factors for low self-perception. Finally, the reviewed studies highlighted a link between self-perception and quality of life in patients with chronic tic disorders, alongside the protective role of good social adjustment. This information can therefore assist treating clinicians in the choice of tailored therapeutic interventions for this patient population, including behavioral management techniques that can improve self-concept and self-esteem through increased self-efficacy. Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  2. Disrupting BCR-ABL in Combination with Secondary Leukemia-Specific Pathways in CML Cells Leads to Enhanced Apoptosis and Decreased Proliferation

    OpenAIRE

    Woessner, David W.; Lim, Carol S.

    2012-01-01

    Chronic myeloid leukemia (CML) is a myeloproliferative disorder caused by expression of the fusion gene BCR-ABL following a chromosomal translocation in the hematopoietic stem cell.1 Therapeutic management of CML uses tyrosine kinase inhibitors (TKIs), which blocks ABL-signaling and effectively kill peripheral cells with BCR-ABL. However, TKIs are not curative, and chronic use of is required in order to treat CML. The primary failure for TKIs is through development of a resistant population d...

  3. Non-driver mutations in myeloproliferative neoplasm-associated myelofibrosis

    Directory of Open Access Journals (Sweden)

    Bing Li

    2017-05-01

    Full Text Available Abstract We studied non-driver mutations in 62 subjects with myeloproliferative neoplasm (MPN-associated myelofibrosis upon diagnosis, including 45 subjects with primary myelofibrosis (PMF and 17 with post-polycythemia vera or post-essential thrombocythemia myelofibrosis (post-PV/ET MF. Fifty-eight subjects had ≥1 non-driver mutation upon diagnosis. Mutations in mRNA splicing genes, especially in U2AF1, were significantly more frequent in PMF than in post-PV/ET MF (33 vs. 6%; P = 0.015. There were also striking differences in clonal architecture. These data indicate different genomic spectrums between PMF and post-PV/ET MF.

  4. Seizure disorders and anemia associated with chronic borax intoxication

    Science.gov (United States)

    Gordon, A. S.; Prichard, J. S.; Freedman, M. H.

    1973-01-01

    During the course of investigation of two infants with seizure disorders it was discovered that both had been given large amounts of a preparation of borax and honey which resulted in chronic borate intoxication. In one child a profound anemia developed as well. The symptoms of chronic borate intoxication are different from those of the acute poisoning with which we are more familiar. The borax and honey preparations are highly dangerous and should no longer be manufactured or distributed for sale. ImagesFIG. 1FIG. 2 PMID:4691106

  5. [Sociodemographic/Clinical characteristics and risk factors associated with chronic tic disorders].

    Science.gov (United States)

    Hesapçıoğlu, Selma Tural; Tural, Mustafa Kemal; Kandil, Sema

    2013-01-01

    This study aimed to investigate comorbidity, and sociodemographic and clinical characteristics in children and adolescents with Tourette's syndrome (TS) and chronic motor or vocal tic disorder (CMVTD), and to determine the predictors of tic disorders. In all, 57 children and adolescents with TS and CMVTD were compared with a control group. Data were obtained using the Yale Global Tic Severity Scale (YGTSS), Turgay DSM-IV-Based Disruptive Behavioral Disorders Screening and Rating Scale (T-DSM-IV-S), Children's Depression Inventory (CDI), Screen for Child Anxiety-Related Disorders (SCARED), Maudsley Obsessive-Compulsive Inventory (MOCI), and Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime Version (K-SADS-PL). Mean age of the patients was 10.5 ± 2.4 years. In all, 56 (98.2%) of the patients had simple motor tics, 50 (87.7%) had complex motor tics, and 43 (75.4%) had vocal tics. Self-injurious behavior was observed in 24 (42.1%) patients. In total, 46 (80.7%) of the patients had ≥1 comorbid disorder. Among the observed comorbid disorders, attention deficit-hyperactivity disorder (ADHD) was the most common (observed in 40.4% of the patients), followed by obsessive-compulsive disorder (OCD) (19.3%). A higher-level of maternal education and absence of ADHD were associated with a reduction in the risk of a tic disorder. A family history of psychiatric disorder increased the risk of a tic disorder 5.61-fold, and nail biting increased the risk of a tic disorder 8.2-fold. Every 1-unit increase in CDI score increased the risk of a tic disorder by 12%. Chronic tic disorders (CTDs) are often accompanied by other psychiatric disorders. Both child- and family-related factors are associated with the risk of developing a tic disorder. Determination of both the protective and risk factors would be beneficial for improving the mental health of the general public.

  6. Cognitive Disorders, Depressive Status and Chronic Complications of Type 2 Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Tache Mirela

    2014-12-01

    Full Text Available Background and aims: Depression and cognitive disorders were reported more frequently in patients with diabetes mellitus (DM. Our aim was to analyze the association of cognitive disorders and depression association with chronic complications of DM in a group of Romanian patients. Materials and methods: The data was analyzed from 181 patients, with a mean age of 58,3 years to whom we applied the MMSE (Mini- Mental State Examination and MADRS (Montgomery-Asberg Depression Rating Scale questionnaires. We also analyzed the presence of chronic DM complications, HbA1c and lipid profile. Results: Most patients with type 2 diabetes mellitus (T2DM had mild cognitive impairment (92%, more common in the age group 50-59 years. Chronic macrovascular complications were present in 74.58%, while chronic microvascular complications were present in 61.87% of patients with T2DM who associated mild and moderate cognitive impairment (p = 0.013. The most common form of depression was mild depression (90.2%, present in most patients with DM, regardless of progression and type of treatment. MADRS depression test scores were statistically significant correlated with the presence of peripheral artery disease - PAD (p <0.001, ischemic heart disease - IHD (p <0.001 and chronic kidney disease - CKD (p =0.05. We did not find a statistically significant correlation with HbA1c and serum lipid values (p˃0,05. Conclusion: Chronic diabetes macrovascular complications (PAD, IHD and CKD were more frequently associated with cognitive disorders and depression in patients with T2DM independent of the degree of metabolic control.

  7. Screening for Depressive Disorder in Elderly Patients with Chronic Physical Diseases Using the Patient Health Questionnaire-9.

    Science.gov (United States)

    Park, Seon-Cheol; Lee, Hwa-Young; Lee, Dong-Woo; Hahn, Sang-Woo; Park, Sang-Ho; Kim, Yeo Ju; Choi, Jae Sung; Lee, Ho-Sung; Lee, Soyoung Irene; Na, Kyoung-Sae; Jung, Sung Won; Shim, Se-Hoon; Kim, Ki Won; Paik, Jong-Woo; Kwon, Young-Joon

    2017-05-01

    We aimed to identify depressive symptom profiles that indicated the presence of depressive disorder and present optimal cut-off sub-scores for depressive symptom profiles for detecting depressive disorder in elderly subjects with chronic physical diseases including diabetes, chronic obstructive pulmonary disease/asthma, and coronary artery disease, using the Patient Health Questionnaire-9 (PHQ-9). Two hundred and thirty-one elderly patients with chronic physical diseases were recruited consecutively from a university-affiliated general hospital in South Korea. Greater severities of all 9 depressive symptoms in the PHQ-9 were presented in those with depressive disorder rather than those without depressive disorder. A binary logistic regression modeling presented that little interest [adjusted odds ratio (aOR)=4.648, pdepressive disorder. Receiver operating characteristics (ROC) curve analysis presented that the optimal cut-off value of score on the items for little interest, reduced/increased sleep, psychomotor retardation/agitation and concentration problem (PHQ-9) for detecting depressive disorder was 4 with 61.9% of sensitivity and 91.5% of specificity [area under curve (AUC)=0.937, pdepressive disorder among the elderly patients with chronic physical diseases.

  8. Cervical muscle dysfunction in chronic whiplash-associated disorder grade 2: the relevance of the trauma.

    Science.gov (United States)

    Nederhand, Marc J; Hermens, Hermie J; IJzerman, Maarten J; Turk, Dennis C; Zilvold, Gerrit

    2002-05-15

    Surface electromyography measurements of the upper trapezius muscles were performed in patients with a chronic whiplash-associated disorder Grade 2 and those with nonspecific neck pain. To determine the etiologic relation between acceleration-deceleration trauma and the presence of cervical muscle dysfunction in the chronic stage of whiplash-associated disorder. From a biopsychosocial perspective, the acceleration-deceleration trauma in patients with whiplash-associated disorder is not regarded as a cause of chronicity of neck pain, but rather as a risk factor triggering response systems that contribute to the maintenance of neck pain. One of the contributing factors is dysfunction of the cervical muscles. Considering the limited etiologic significance of the trauma, it is hypothesized that in patients with neck pain, there are no differences in muscle activation patterns between those with and those without a history of an acceleration-deceleration trauma. Muscle activation patterns, expressed in normalized smooth rectified electromyography levels of the upper trapezius muscles, in patients with whiplash-associated disorder Grade 2 were compared with those of patients with nonspecific neck pain. The outcome parameters were the mean level of muscle activity before and after a physical exercise, the muscle reactivity in response to the exercise, and the time-dependent behavior of muscle activity after the exercise. There were no statistical significant differences in any of the outcome parameters between patients with whiplash-associated disorder Grade 2 and those with nonspecific neck pain. There was only a tendency of higher muscle reactivity in patients with whiplash-associated disorder Grade 2. It appears that the cervical muscle dysfunction in patients with chronic whiplash-associated disorder Grade 2 is not related to the specific trauma mechanism. Rather, cervical muscle dysfunction appears to be a general sign in diverse chronic neck pain syndromes.

  9. Investigations of disorders of motility of the esophagus in chronic diseases. 14

    International Nuclear Information System (INIS)

    Mecklenbeck, W.; Vosberg, Henning

    1991-01-01

    Chronic diseases of the esophagus impair the transport function of this organ. Esophageal scintigraphy investigates the transport function under physiological circumstances. Various test meals are radioactively labelled and swallowed by the patient. depending on the cause of a transport disorder the investigation lasts only 60s up to half an hour. Parametric imaging techniques like the so called condensed pictures give information about extent and peristalsis of transport disorders. The determination of transit times and/or percent of residuum in the eso-phagus allows for quantitating functional disorders. The use of multiple swallow technique or of various tracers during one investigation leads to high sensitivity in the detection of esophageal transport disorders, even in an early stage of a chronic disease, like morphea or sclero-derma. The documentation of successful therapeutical interventions is possible, for example in achalasia. In obscure complaints or in thoracic pain without coronary heart disease esophageal scintigraphy may confirm or exclude a disease of the esophagus. (author). 40 refs.; 5 figs

  10. Svangerskabsrelateret trombocytose

    DEFF Research Database (Denmark)

    Jønsson, Viggo; Bock, Johannes E; Clausen, Tine Dalsgaard

    2002-01-01

    Pregnancy-related thrombocythaemia comprises myeloproliferative and inflammatory reactive subsets. In pregnant women treated for myeloproliferative disorders, especially polycythaemia vera and primary thrombocytosis, only 50-70 per cent are delivered successfully of a normal healthy baby. The mat......Pregnancy-related thrombocythaemia comprises myeloproliferative and inflammatory reactive subsets. In pregnant women treated for myeloproliferative disorders, especially polycythaemia vera and primary thrombocytosis, only 50-70 per cent are delivered successfully of a normal healthy baby...

  11. Panic disorder in patients with chronic heart failure.

    Science.gov (United States)

    Müller-Tasch, Thomas; Frankenstein, Lutz; Holzapfel, Nicole; Schellberg, Dieter; Löwe, Bernd; Nelles, Manfred; Zugck, Christian; Katus, Hugo; Rauch, Bernhard; Haass, Markus; Jünger, Jana; Remppis, Andrew; Herzog, Wolfgang

    2008-03-01

    Our objective was to assess the prevalence of panic disorder, its influence on quality of life (QoL), and the presence of further anxiety and depressive comorbid disorders in outpatients with chronic heart failure (CHF). In a cross-sectional study, anxiety and depressive disorders were diagnosed according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition diagnostic criteria in patients with CHF who were aged > or =18 years and had New York Heart Association (NYHA) Functional Classes I-IV, using the Patient Health Questionnaire. Health-related QoL was evaluated using the Short-Form 36 Health Survey (SF-36). Of the 258 participating patients, 24 (9.3%) fulfilled diagnostic criteria for panic disorder. Seven of these (29.2%) were diagnosed with comorbid anxiety disorders, 11 (47.3%) were diagnosed with comorbid depressive disorder, and 5 (20.8%) were diagnosed with other anxiety disorders and any depressive disorder. Female gender [odds ratio (OR)=3.1; 95% confidence interval (95% CI)=1.2-7.8; P=.02] and a lower level of education (OR=0.3; 95% CI=0.1-0.9; P=.04) were associated with the presence of panic disorder. In patients with panic disorder, QoL was significantly more restricted on all subscales of the SF-36 as compared to those without panic disorder, even when age, gender, and NYHA functional class were controlled for (P=.05 to <.01). Approximately 1 of 10 patients with CHF suffers from panic disorder, many of whom also have additional anxiety or depressive comorbid disorders. Female gender and a low level of education are positively associated with the presence of panic disorder. QoL is severely limited by the presence of panic disorder. Diagnosis of mental disorders and treatment offers for affected patients should be available in patient care.

  12. Impaired Functional Connectivity in the Prefrontal Cortex: A Mechanism for Chronic Stress-Induced Neuropsychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Ignacio Negrón-Oyarzo

    2016-01-01

    Full Text Available Chronic stress-related psychiatric diseases, such as major depression, posttraumatic stress disorder, and schizophrenia, are characterized by a maladaptive organization of behavioral responses that strongly affect the well-being of patients. Current evidence suggests that a functional impairment of the prefrontal cortex (PFC is implicated in the pathophysiology of these diseases. Therefore, chronic stress may impair PFC functions required for the adaptive orchestration of behavioral responses. In the present review, we integrate evidence obtained from cognitive neuroscience with neurophysiological research with animal models, to put forward a hypothesis that addresses stress-induced behavioral dysfunctions observed in stress-related neuropsychiatric disorders. We propose that chronic stress impairs mechanisms involved in neuronal functional connectivity in the PFC that are required for the formation of adaptive representations for the execution of adaptive behavioral responses. These considerations could be particularly relevant for understanding the pathophysiology of chronic stress-related neuropsychiatric disorders.

  13. The association of childhood trauma and personality disorders with chronic depression: A cross-sectional study in depressed outpatients.

    Science.gov (United States)

    Klein, Jan Philipp; Roniger, Antje; Schweiger, Ulrich; Späth, Christina; Brodbeck, Jeannette

    2015-06-01

    Chronic depression has often been associated with childhood trauma. There may, however, be an interaction between personality pathology, childhood trauma, and chronic depression. This interaction has not yet been studied. This retrospective analysis is based on 279 patients contacted for a randomized trial in an outpatient psychotherapy center over a period of 18 months from 2010 to 2012. Current diagnoses of a personality disorder and presence of chronic depression were systematically assessed using the Structured Clinical Interview for DSM-IV. Retrospective reports of childhood trauma were collected using the short form of the Childhood Trauma Questionnaire (CTQ-SF). DSM-IV-defined chronic depression was the primary outcome. The association between chronic depression, childhood trauma, and personality disorders was analyzed using correlations. Variables that had at least a small effect on correlation analysis were entered into a series of logistic regression analyses to determine the predictors of chronic depression and the moderating effect of childhood trauma. The presence of avoidant personality disorder, but no CTQ-SF scale, was associated with the chronicity of depression (odds ratio [OR] = 2.20, P = .015). The emotional abuse subscale of the CTQ-SF did, however, correlate with avoidant personality disorder (OR = 1.15, P = .000). The level of emotional abuse had a moderating effect on the effect of avoidant personality disorder on the presence of chronic depression (OR = 1.08, P = .004). Patients who did not suffer from avoidant personality disorder had a decreased rate of chronic depression if they retrospectively reported more severe levels of emotional abuse (18.9% vs 39.7%, respectively). The presence of avoidant personality pathology may interact with the effect of childhood trauma in the development of chronic depression. This has to be confirmed in a prospective study. ClinicalTrials.gov identifier: NCT01226238. © Copyright 2015 Physicians

  14. Tourette Syndrome and Chronic Tic Disorders: The Clinical Spectrum Beyond Tics.

    Science.gov (United States)

    Martino, Davide; Ganos, Christos; Pringsheim, Tamara M

    2017-01-01

    The clinical surveillance and active management of Tourette syndrome (TS) and other primary chronic tic disorders cannot be limited to tics, as these patients manifest a spectrum of sensory-, behavioral-, cognitive-, and sleep-related problems that have a major impact on their functioning and quality of life, influencing enormously clinical decision making on a routine basis. The sensory phenomena of primary tic disorders consist of premonitory urges and heightened sensitivity to external somatosensory and interoceptive stimuli. Recent evidence suggests that raised interoceptive awareness may be related to the classical premonitory urges associated with tics. The burden of behavioral comorbidities is very important in determining the degree of disability of patients with primary tic disorders. Only 10%-15% of these patients presents exclusively with a tic disorder. Obsessive-compulsive disorder (OCD) are common in TS, and the clinical distinction between compulsions and complex tics may be difficult in some cases. "Tic-related OCD" represents a phenomenologically characteristic subtype of OCD, also associated with "just right" phenomena. Probably the presence of comorbid attention deficit/hyperactivity disorder is the main determinant of cognitive dysfunction in TS patients and influences heavily also the risk of developing disruptive behaviors. Mood and anxiety disorders, impulse control disorders, rage attacks, "impulsive" tic-like behaviors (e.g., nonobscene socially inappropriate behaviors, and self-injurious behaviors), and autism spectrum disorders complete the wide psychopathological spectrum of primary chronic tic disorders. Moreover, specific sleep abnormalities have been reported in TS patients, although more research is needed on this specific clinical problem. As in other areas of clinical neuroscience, a comprehensive approach to both motor and nonmotor aspects of this group of disorders will help personalizing treatment interventions and, ultimately

  15. Hippotherapy in Adult Patients with Chronic Brain Disorders: A Pilot Study

    OpenAIRE

    Sunwoo, Hyuk; Chang, Won Hyuk; Kwon, Jeong-Yi; Kim, Tae-Won; Lee, Ji-Young; Kim, Yun-Hee

    2012-01-01

    Objective To investigate the effects of hippotherapy for adult patients with brain disorders. Method Eight chronic brain disorder patients (7 males, mean age 42.4?16.6 years) were recruited. The mean duration from injury was 7.9?7.7 years. The diagnoses were stroke (n=5), traumatic brain disorder (n=2), and cerebral palsy (n=1). Hippotherapy sessions were conducted twice a week for eight consecutive weeks in an indoor riding arena. Each hippotherapy session lasted 30 minutes. All participants...

  16. Psychiatric morbidity in patients with chronic whiplash-associated disorder.

    Science.gov (United States)

    Kivioja, Jouko; Själin, Mikael; Lindgren, Urban

    2004-06-01

    Prospective cohort with age- and gender-matched controls. To compare psychiatric morbidity between two groups: patients having chronic symptoms after a whiplash injury and patients who recovered completely. Psychiatric morbidity may influence the outcome of somatic diseases, and it has been suggested that psychological factors are often involved in the development of chronic symptoms after whiplash injuries, but there is no study assessing psychiatric morbidity in whiplash-associated disorder (WAD) using the Structured Clinical Interview for DSM-IV. We studied a consecutive sample of 278 patients with a whiplash injury. Eighty-five had persisting neck pain after 1 year, and 38 of these participated in this study. For each patient with chronic neck pain at the 1 year follow-up, a gender- and age-matched recovered patient was selected from the study cohort of 278 cases. Psychiatric morbidity was determined using the Structured Clinical Interview for DSM-IV (SCID). The interview was conducted at 1 year after the accident (360 days, SD 2 days). The chronic WAD group had a significantly (P factor for chronic symptoms after a whiplash injury. The development of chronic symptoms after awhiplash injury seems to be associated with psychiatric vulnerability.

  17. Concomitant BCR-ABL1 positive chronic myelogenous leukemia emerging in a patient with MPL W515L associated primary myelofibrosis

    Directory of Open Access Journals (Sweden)

    Juan C. Gomez-Gelvez, MD

    2016-03-01

    Full Text Available Myeloproliferative neoplasms (MPNs are clonal hematopoietic stem cell disorders characterized by proliferation of one or more cell lineages in the bone marrow. At present, the main criterion in the 2008 World Health Organization classification of MPNs is the presence of an underlying genetic abnormality. These mutations are generally mutually exclusive except for rare reports in the literature. We report for the first time a detailed analysis of the clinical, histologic and cytogenetic/molecular features of a patient who initially presented with MPL W515L positive primary myelofibrosis and over the course of five years developed an MPN associated with both BCR-ABL1 and MPL W515L mutation. We discuss the diagnostic challenges and therapeutic implications of concomitant BCR-ABL1 translocation with MPL W515L mutation. Multiple genetic alterations may simultaneously coexist in patients exhibiting features of myeloproliferative disorders.

  18. Tyrosine 625 plays a key role and cooperates with tyrosine 630 in MPL W515L-induced signaling and myeloproliferative neoplasms

    OpenAIRE

    Yu, Chunjie; Yang, Qiong; Chen, Yuhong; Wang, Demin; Levine, Ross; Crispino, John; Wen, Qiang; Huang, Zan

    2016-01-01

    Background Myeloproliferative neoplasms (MPN) are a group of blood cancers that boost normal blood cell production in the bone marrow. Abnormal mutations in stem cells were found accompanying with the occurrence of MPN. It has been shown that MPL mutations (MPL W515L or MPL W515K) were involved in patients with MPN. Since tyrosine residues 625 and 630 mediate normal MPL signaling, whether them affect MPL W515L-induced myeloproliferative neoplasms (MPNs) is unknown. Results In this study, we f...

  19. Tic disorders in the differential diagnosis of chronic cough in children in relation to four cases.

    Science.gov (United States)

    Karakaya, Işık; Şişmanlar, Şahika Gülen

    2015-09-01

    Chronic cough is a frequent reason for medical referrals in childhood. In patients who do not have signs or symptoms of an underlying respiratory system disease and who do not respond to experimental treatment, psychogenic cough should be considered. In this paper, four patients who were referred to our department with a prediagnosis of psychogenic cough, found to have tic disorder as a result of the assessments performed and improved with antipsychotic medication are presented. The differantial diagnosis of chronic cough in children should include tic disorders as well as psychogenic cough. Tic disorders can be diagnosed easily with detailed history and their response to medical treatment is rather satisfactory. Recognition of these disorders by pediatricians will minimize erroneous diagnoses and inappropriate therapies in children with a complaint of chronic cough.

  20. Are children with chronic illnesses requiring dietary therapy at risk for disordered eating or eating disorders? A systematic review.

    Science.gov (United States)

    Conviser, Jenny H; Fisher, Sheehan D; McColley, Susanna A

    2018-03-01

    Pediatric chronic illnesses (CI) can affect a child's mental health. Chronic illnesses with treatment regimens that specify a therapeutic diet may place the child at increased risk for disordered eating and specific eating disorders (ED). The aim of this review is to examine the relation between diet-treated CI and disordered eating and to determine the order of onset to infer directionality. Diet-treated CI is hypothesized to precede and to be associated with disordered eating. A comprehensive search of empirical articles that examine the relation between diet-treated CI (diabetes, cystic fibrosis, celiac disease, gastrointestinal disorders, and inflammatory bowel diseases) and disordered eating was conducted in Medline and PsycINFO using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A table of the sample's characteristics, ED measures, major pertinent findings, and the onset of CI in relation to ED were provided. Diet-treated CI was associated with disordered eating and ED. Diet-treated CI had onset prior to disordered eating in most studies, except for inflammatory bowel diseases. Disordered eating and unhealthy weight management practices put children at risk for poor medical outcomes. Interventions for diet-treated CI require a focus on diet and weight, but may increase the risk for disordered eating. Future research is needed to elucidate the mechanisms that transform standard treatment practices into pathological eating, including characteristics and behaviors of the child, parents/care providers, family, and treatment providers. © 2018 Wiley Periodicals, Inc.

  1. High frequency of endothelial colony forming cells marks a non-active myeloproliferative neoplasm with high risk of splanchnic vein thrombosis.

    Directory of Open Access Journals (Sweden)

    Vittorio Rosti

    Full Text Available Increased mobilization of circulating endothelial progenitor cells may represent a new biological hallmark of myeloproliferative neoplasms. We measured circulating endothelial colony forming cells (ECFCs in 106 patients with primary myelofibrosis, fibrotic stage, 49 with prefibrotic myelofibrosis, 59 with essential thrombocythemia or polycythemia vera, and 43 normal controls. Levels of ECFC frequency for patient's characteristics were estimated by using logistic regression in univariate and multivariate setting. The sensitivity, specificity, likelihood ratios, and positive predictive value of increased ECFC frequency were calculated for the significantly associated characteristics. Increased frequency of ECFCs resulted independently associated with history of splanchnic vein thrombosis (adjusted odds ratio = 6.61, 95% CI = 2.54-17.16, and a summary measure of non-active disease, i.e. hemoglobin of 13.8 g/dL or lower, white blood cells count of 7.8×10(9/L or lower, and platelet count of 400×10(9/L or lower (adjusted odds ratio = 4.43, 95% CI = 1.45-13.49 Thirteen patients with splanchnic vein thrombosis non associated with myeloproliferative neoplasms were recruited as controls. We excluded a causal role of splanchnic vein thrombosis in ECFCs increase, since no control had elevated ECFCs. We concluded that increased frequency of ECFCs represents the biological hallmark of a non-active myeloproliferative neoplasm with high risk of splanchnic vein thrombosis. The recognition of this disease category copes with the phenotypic mimicry of myeloproliferative neoplasms. Due to inherent performance limitations of ECFCs assay, there is an urgent need to arrive to an acceptable standardization of ECFC assessment.

  2. Sleep disorders in pediatric chronic kidney disease patients.

    Science.gov (United States)

    Stabouli, Stella; Papadimitriou, Eleni; Printza, Nikoleta; Dotis, John; Papachristou, Fotios

    2016-08-01

    The prevalence of sleep disorders during childhood has been estimated to range from 25 to 43 %. The aim of this review is to determine the prevalence of sleep disorders and possible associations with chronic kidney disease (CKD)-related factors and health-related quality of life (HRQOL) in children with CKD. An electronic systematic literature search for sleep disorders in children with CKD in Pubmed, Embase and the Cochrane Library Databases identified seven relevant articles for review, all of which reported an increased prevalence of sleep disorders in children with CKD. Five studies included children with CKD undergoing dialysis, and two studies included only non-dialysis patients. In all studies the presence of sleep disturbances was assessed by questionnaires; only one study compared the results of a validated questionnaire with laboratory-based polysomnography. The prevalence of any sleep disorder ranged from 77 to 85 % in dialysis patients, to 32-50 % in transplanted patients and 40-50 % in non-dialysis patients. The most commonly studied disorder was restless legs syndrome, which presented at a prevalence of 10-35 %. Three studies showed significant associations between presence of sleep disorders and HRQOL. We found consistent evidence of an increased prevalence of sleep disturbances in children with CKD, and these seemed to play a critical role in HRQOL.

  3. A narrative review on cervical interventions in adults with chronic whiplash-associated disorder

    Science.gov (United States)

    Yeung, Euson; Tong, Tiffany; Reed, Nick

    2018-01-01

    Introduction Whiplash injuries are common in society, but clinical interventions are inconclusive on the most effective treatment. Research and reviews have been completed with the goal of determining clinical interventions that are effective for whiplash injuries and disorders, but literature has not recently been summarised on best practices for cervical spine interventions for adults with chronic whiplash. Purpose The objective of this narrative review is to update and expand on previous works, to provide recommendations for clinical interventions and future research in the area of cervical spine rehabilitation for adults with chronic whiplash-associated disorder. Method The Arskey and O’Malley methodology was used for this narrative review. CINHAL, EMBASE, Medline, PsychInfo, Scopus, Web of Science, as well as grey literature, were searched from 2003 to April 2017. Two reviewers screened titles and abstracts for relevance to the review, and content analysis summarised the study findings. A total of 14 citations were included in the final review. Findings Exercise-based interventions targeted at the cervical spine appear most beneficial for adults with chronic whiplash-associated disorder (WAD). Invasive interventions still require more rigorous studies to deem their effectiveness for this population. Conclusion Further research is required to investigate and determine clinically relevant results for cervical spine intervention in patients with chronic WAD. PMID:29719724

  4. Altered Regional Cerebral Blood Flow in Chronic Whiplash Associated Disorders

    NARCIS (Netherlands)

    Vállez García, David; Doorduin, Janine; Willemsen, Antoon T.M.; Dierckx, Rudi A.j.o.; Otte, Andreas

    There is increasing evidence of central hyperexcitability in chronic whiplash-associated disorders (cWAD). However, little is known about how an apparently simple cervical spine injury can induce changes in cerebral processes. The present study was designed (1) to validate previous results showing

  5. Sleep Disorders in Chronic Obstructive Pulmonary Disease: Etiology, Impact, and Management

    Science.gov (United States)

    Budhiraja, Rohit; Siddiqi, Tauseef A.; Quan, Stuart F.

    2015-01-01

    Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality and may frequently be complicated by sleep disorders. Insomnia and obstructive sleep apnea are commonly encountered in patients with COPD. Nocturnal hypoxemia is also prevalent in COPD may occur despite adequate awake oxygenation and can be especially severe in rapid eye movement sleep. Additionally, several factors—some of them unique to COPD—can contribute to sleep-related hypoventilation. Recognition of hypoventilation can be vital as supplemental oxygen therapy itself can acutely worsen hypoventilation and lead to disastrous consequences. Finally, accruing data establish an association between restless leg syndrome and COPD— an association that may be driven by hypoxemia and/or hypercapnia. Comorbid sleep disorders portend worse sleep quality, diminished quality of life, and multifarious other adverse consequences. The awareness and knowledge regarding sleep comorbidities in COPD has continued to evolve over past many years. There are still several lacunae, however, in our understanding of the etiologies, impact, and therapies of sleep disorders, specifically in patients with COPD. This review summarizes the latest concepts in prevalence, pathogenesis, diagnosis, and management of diverse sleep disorders in COPD. Citation: Budhiraja R, Siddiqi TA, Quan SF. Sleep disorders in chronic obstructive pulmonary disease: etiology, impact, and management. J Clin Sleep Med 2015;11(3):259–270. PMID:25700872

  6. EXPLORING PERSONALITY DIAGNOSIS STABILITY FOLLOWING ACUTE PSYCHOTHERAPY FOR CHRONIC POSTTRAUMATIC STRESS DISORDER.

    Science.gov (United States)

    Markowitz, John C; Petkova, Eva; Biyanova, Tatyana; Ding, Ke; Suh, Eun Jung; Neria, Yuval

    2015-12-01

    Axis I comorbidity complicates diagnosing axis II personality disorders (PDs). PDs might influence Axis I outcome. No research has examined psychotherapy effects on PDs of treating Axis I comorbidity. Secondary analysis of a randomized controlled trial examined PD diagnostic stability after brief psychotherapy of chronic posttraumatic stress disorder (PTSD). Patients with chronic PTSD were randomly assigned to 14 weeks of prolonged exposure, interpersonal psychotherapy, or relaxation therapy. Assessments included the Structured Clinical Interview for DSM-IV, Patient Version (SCID-P) and Structured Clinical Interview for DSM-IV Axis II Disorders (SCID-II) at baseline, week 14, and for treatment responders (≥30% clinician-administered PTSD scale improvement, defined a priori) at week 26 follow-up. We hypothesized patients whose PTSD improved would retain fewer baseline PD diagnoses posttreatment, particularly with personality traits PTSD mimics, e.g. paranoid and avoidant. Forty-seven (47%) of 99 SCID-II patients evaluated at baseline received a SCID-II diagnosis: paranoid (28%), obsessive-compulsive (27%), and avoidant (23%) PDs were most prevalent. Among 78 patients who repeated SCID-II evaluations posttreatment, 45% (N = 35) had baseline PD diagnoses, of which 43% (N = 15/35) lost at week 14. Three (7%) patients without baseline PDs acquired diagnoses at week 14; 10 others shifted diagnoses. Treatment modality and PTSD response were unrelated to PD improvement. Of treatment responders reevaluated at follow-up (N = 44), 56% with any baseline Axis II diagnosis had none at week 26. This first evaluation of Axis I psychotherapy effects on personality disorder stability found that acutely treating a chronic state decreased apparent trait-across most PDs observed. These exploratory findings suggest personality diagnoses may have limited prognostic meaning in treating chronic PTSD. © 2015 Wiley Periodicals, Inc.

  7. Quality of life of unaffected siblings of children with chronic neurological disorders.

    Science.gov (United States)

    Rana, Pratyaksha; Mishra, Devendra

    2015-06-01

    To study quality of life (QoL) of the siblings of children with chronic neurological disorders. Between 1st August and 30th September, 2013, 50 children aged 12-18 y, whose child sibling was suffering from a chronic neurological disorder, were enrolled (Study group). Fifty age- and sex- matched siblings of apparently non-neurologically affected children were enrolled as controls (Control group). Those with more than one affected child or any affected adult in the family were excluded. QoL was assessed by a validated version of the WHOQOL-BREF in Hindi, and QoL was compared between cases and controls. The disorders in the index cases included cerebral palsy, 18 (15 with epilepsy); autism, 15; mental retardation, 12 and epilepsy, 5. The QoL in all domains was significantly poorer in the study group as compared to the controls. 64% study group children had insufficient knowledge about their sibling's condition. More than 1/4th study subjects faced difficulties in studies, play or work. There was no difference among the groups with regard to number of siblings who had 'dropped from the school'. The QoL of unaffected siblings of children with chronic neurological disorders was significantly impaired. Health-workers may consider including older siblings of neurologically affected children during family-counseling sessions, to provide information and suggest coping strategies. This intervention is likely to improve the functioning of the family unit as a whole.

  8. Disease characteristics as determinants of the labour market position of adolescents and young adults with chronic digestive disorders.

    NARCIS (Netherlands)

    Calsbeek, H.; Rijken, M.; Dekker, J.; Berge Henegouwen, G.P. van

    2006-01-01

    BACKGROUND: Job prospects can be problematic for young patients with chronic digestive disorders. OBJECTIVES: To compare the employment status and disease burden in young adult patients with several chronic digestive disorders with healthy controls, and to determine whether labour participation

  9. Blood responses under chronic low daily dose gamma irradiation: Pt.1

    International Nuclear Information System (INIS)

    Seed, T.M.; Carnes, B.A.; Tolle, D.V.; Fritz, T.E.

    1989-01-01

    Male beagles chronically exposed to low daily doses of 60 Co γ rays show one of three hematopoietic patterns, which reflect three different distinctly responding subgroups: (1) low radioresistance with progressing aplastic anemia and shortened survival ( -S -AA subgroup); (2) high radioresistance with a complex of progressing myeloproliferative disorders ( + R-MPD group); or (3) high radioresistance with other nonMPD syndromes ( + R-nonMPD group). Blood cell levels (granulocytes, monocytes, erythrocytes, lymphocytes, and platelets) were assessed and fitted to a flexible polynomial spline model. Results showed that relative to the overall magnitude of blood cell loss as well as to the maximum rate of suppression during the initial phase, the subgroups were generally ranked - S-AA >> + R-MPD > + R-nonMPD. Relative to the overall strength of the recovery response, the subgroups were generally ranked + R-MPD > + R-nonMPD >>> - S-AA. In terms of overall maintenance levels of circulating blood cells during the recovery phase, however, the + R-nonMPD subgroup consistently exhibited stronger responses than the + R-MPD subgroup. These results support our contention that selected subgroups of dogs have strong propensities to specific hematopathologies (i.e. aplastic anemia and myeloid leukemia) under chronic irradiation and that these pathology-prone animals exhibit a series of marked differential hematopoietic responses during early preclinical phases, which serve effectively to prognosticate subsequent pathological progression. (author)

  10. [Prevalence of Mood and Anxiety Disorders on People with Chronic Conditions. Results from the National Mental Health Survey in Colombia 2015].

    Science.gov (United States)

    Martínez, Nathalie Tamayo; Gómez-Restrepo, Carlos; Ramírez, Sandra; Rodríguez, María Nelcy

    2016-12-01

    The study of mental disorders in people with chronic conditions recognises the importance of actively seeking and treating both, since chronic conditions have a higher prevalence than mental disorders and their comorbidity generates greater burden than if each one was considered separately. To measure the prevalence of mood disorders and anxiety in a Colombian population of 12 years and older and with and without different chronic conditions. The information is taken from the National Mental Health Survey 2015 in Colombia, which was an observational cross-sectional study with national representativeness for the age groups measured 12-17, 18-44, and 45 and older. Disorders measured where mood disorders and anxiety social phobia, generalised anxiety disorder, and panic disorder in the past 12 months, and several chronic conditions. Univariate and bivariate analyses were performed for these conditions. The highest prevalence of mood and anxiety disorders were found in people with gastrointestinal diseases, followed by those with chronic pain, heart, and lung diseases, which corresponded to 27.1%, 13.3%, 12.2%, and 11.5%, respectively, in those between 18 and 44 years old, and 15.9%, 12.2%, 8.0%, and 7.4% of those 45 and older, respectively. This was greater than the prevalence of these mental disorders in people with no chronic condition, where the prevalence is 3.5% in the younger, and 1.1% in the older group. However, the risk of these mental disorders is higher in older people. Thus, in those with gastrointestinal diseases when compared to people of the same age without any chronic condition the prevalence is 14.9 times higher, but for the same disease in the younger group it is 7.8. These findings link chronic conditions with a higher prevalence of mental disorders, which in the present study also highlights the greater comorbidity of mood and anxiety disorders in the elderly. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier Espa

  11. Relationships between Premonitory Urge and Anxiety in Youth with Chronic Tic Disorders.

    Science.gov (United States)

    Rozenman, Michelle; Johnson, Olivia E; Chang, Susanna W; Woods, Douglas W; Walkup, John T; Wilhelm, Sabine; Peterson, Alan; Scahill, Lawrence; Piacentini, John

    2015-07-01

    Tourette's Disorder and other chronic tic disorders are common neurodevelopmental conditions. One characteristic of tic disorders is the premonitory urge, an aversive or unpleasant sensory phenomenon that may precede tics. Initial examination of premonitory urge in pediatric tic disorders suggests that awareness and experience of sensations preceding tics may be related to anxiety and OCD. However, it may be possible that specific anxiety-related symptoms, such as anxious physiologic arousal, are particularly relevant to the experience of premonitory urge. The current study examines relationships between tic-related premonitory urge and anxiety-related symptom clusters in treatment-seeking youths with a primary diagnoses of Tourette's or other chronic tic disorder. The sample consisted of 124 youth, ages 9 to 17, who participated in the multi-site Comprehensive Behavioral Intervention for Tics randomized controlled trial (CBIT; Piacentini et al., 2010). Specific anxiety-related subtypes, including generalized worry, separation, social, and panic/somatic symptoms, as well as severity of obsessions and compulsions, were assessed as potential correlates of premonitory urge. Findings indicated that age, global tic-related impairment, and specific panic/somatic symptoms accounted for a substantial proportion of variance in youth report of premonitory urge. These findings provide information about the characteristics of premonitory urge in pediatric tic disorders, and have implications for the treatment of pediatric tic syndromes.

  12. Trauma and dissociation in conversion disorder and chronic pelvic pain

    NARCIS (Netherlands)

    Spinhoven, P.; Roelofs, K.; Moene, F.C.; Kuyk, J.; Nijenhuis, E.R.S.; Hoogduin, C.A.L.; Dyck, R. van

    2004-01-01

    Objective: The purpose of this study was to: a) assess the link between sexual and/or physical abuse and dissociation in conversion disorder and chronic pelvic pain patients; and b) assess whether this effect is independent of level of general psychopathology. Method: This report examines data from

  13. An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults.

    Science.gov (United States)

    Savona, Michael R; Malcovati, Luca; Komrokji, Rami; Tiu, Ramon V; Mughal, Tariq I; Orazi, Attilio; Kiladjian, Jean-Jacques; Padron, Eric; Solary, Eric; Tibes, Raoul; Itzykson, Raphael; Cazzola, Mario; Mesa, Ruben; Maciejewski, Jaroslaw; Fenaux, Pierre; Garcia-Manero, Guillermo; Gerds, Aaron; Sanz, Guillermo; Niemeyer, Charlotte M; Cervantes, Francisco; Germing, Ulrich; Cross, Nicholas C P; List, Alan F

    2015-03-19

    Myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) are hematologically diverse stem cell malignancies sharing phenotypic features of both myelodysplastic syndromes and myeloproliferative neoplasms. There are currently no standard treatment recommendations for most adult patients with MDS/MPN. To optimize efforts to improve the management and disease outcomes, it is essential to identify meaningful clinical and biologic end points and standardized response criteria for clinical trials. The dual dysplastic and proliferative features in these stem cell malignancies define their uniqueness and challenges. We propose response assessment guidelines to harmonize future clinical trials with the principal objective of establishing suitable treatment algorithms. An international panel comprising laboratory and clinical experts in MDS/MPN was established involving 3 independent academic MDS/MPN workshops (March 2013, December 2013, and June 2014). These recommendations are the result of this collaborative project sponsored by the MDS Foundation. © 2015 by The American Society of Hematology.

  14. Observations on transition of polycythaemia vera into acute or chronic granulocytic leukaemia during treatment with radioactive phosphorus 32P

    International Nuclear Information System (INIS)

    Krasnik, W.

    1975-01-01

    In a group of 172 cases of polycythaemia vera treated with radioactive phosphorus 32 P acute granulocytic leukaemia developed in 3 cases and chronic granulocytic leukaemia in 6 cases. Development of acute granulocytic leukaemia during treatment with radioactive phosphorus for polycythaemia vera may be considered with some probability as a result of leukaemia-inducing action of ionizing radiation. Transition of polycythaemia vera into chronic granulocytic leukaemia seems to a natural outcome of this complex myeloproliferative syndrome in patients with survival prolonged by treatment with 32 P. (author)

  15. Allogeneic hematopoietic stem cell transplant in adult patients with myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes.

    Science.gov (United States)

    Sharma, Prashant; Shinde, Shivani S; Damlaj, Moussab; Hefazi Rorghabeh, Mehrdad; Hashmi, Shahrukh K; Litzow, Mark R; Hogan, William J; Gangat, Naseema; Elliott, Michelle A; Al-Kali, Aref; Tefferi, Ayalew; Patnaik, Mrinal M

    2017-04-01

    MDS/MPN (myelodysplastic syndrome/myeloproliferative neoplasm) overlap syndromes are myeloid malignancies for which allogeneic hematopoietic stem cell transplant (allo-HSCT) is potentially curative. We describe transplant outcomes of 43 patients - 35 with chronic myelomonocytic leukemia, CMML (of which 17 had blast transformation, BT) and eight with MDS/MPN-unclassifiable (MDS/MPN,U). At median follow-up of 21 months, overall survival (OS), cumulative incidence of relapse (CIR) and non-relapse mortality (NRM) were 55%, 29%, and 25% respectively in CMML without BT and 47%, 40%, and 34% respectively in CMML with BT. Higher HSCT-comorbidity index (HSCT-CI >3 versus ≤3; p = 0.015) and splenomegaly (p = 0.006) predicted worse OS in CMML without BT. In CMML with BT, engraftment failure (p = 0.006) and higher HSCT-CI (p = 0.03) were associated with inferior OS, while HSCT within 1-year of diagnosis was associated with improved OS (p = 0.045). In MDS/MPN,U, at median follow-up of 15 months, OS, CIR, and NRM were 62%, 30%, and 14%, respectively.

  16. Chronic subjective dizziness versus conversion disorder: discussion of clinical findings and rehabilitation.

    Science.gov (United States)

    Honaker, Julie A; Gilbert, Jane M; Staab, Jeffrey P

    2010-06-01

    Audiologists frequently encounter patients who complain of chronic dizziness or imbalance, in the absence of active vestibular or neurological deficits. Knowledge about conditions that cause this clinical presentation will allow audiologists to make important contributions to accurate diagnosis and effective management of these patients. This article reviews 2 such conditions, chronic subjective dizziness (CSD) and conversion disorder. A case of CSD and another of conversion disorder are presented, with a literature review of their clinical presentations, key diagnostic features, and treatment strategies. The role of the audiologist in assessing patients with these conditions and facilitating appropriate treatment referrals is discussed. The audiologist is in a key position to identify individuals with CSD and conversion disorder, 2 conditions that can be effectively managed if properly recognized. The authors demonstrate an effective team approach program that includes the audiologist's contribution to differential diagnosis, education of patients and other clinicians about these conditions, and development of recommendations for neurological, psychiatric, otologic, and physical therapy referrals.

  17. Chronic Orofacial Pain: Burning Mouth Syndrome and Other Neuropathic Disorders

    Science.gov (United States)

    Tait, Raymond C; Ferguson, McKenzie; Herndon, Christopher M

    2017-01-01

    Chronic orofacial pain is a symptom associated with a wide range of neuropathic, neurovascular, idiopathic, and myofascial conditions that affect a significant proportion of the population. While the collective impact of the subset of the orofacial pain disorders involving neurogenic and idiopathic mechanisms is substantial, some of these are relatively uncommon. Hence, patients with these disorders can be vulnerable to misdiagnosis, sometimes for years, increasing the symptom burden and delaying effective treatment. This manuscript first reviews the decision tree to be followed in diagnosing any neuropathic pain condition, as well as the levels of evidence needed to make a diagnosis with each of several levels of confidence: definite, probable, or possible. It then examines the clinical literature related to the idiopathic and neurogenic conditions that can occasion chronic orofacial pain, including burning mouth syndrome, trigeminal neuralgia, glossopharyngeal neuralgia, post-herpetic neuralgia, and atypical odontalgia. Temporomandibular disorders also are examined as are other headache conditions, even though they are not neurologic conditions, because they are common and can mimic symptoms of the latter disorders. For each of these conditions, the paper reviews literature regarding incidence and prevalence, physiologic and other contributing factors, diagnostic signs and symptoms, and empirical evidence regarding treatments. Finally, in order to improve the quality and accuracy of clinical diagnosis, as well as the efficiency with which effective treatment is initiated and delivered, criteria are offered that can be instrumental in making a differential diagnosis. PMID:28638895

  18. Chronic Orofacial Pain: Burning Mouth Syndrome and Other Neuropathic Disorders.

    Science.gov (United States)

    Tait, Raymond C; Ferguson, McKenzie; Herndon, Christopher M

    2017-03-01

    Chronic orofacial pain is a symptom associated with a wide range of neuropathic, neurovascular, idiopathic, and myofascial conditions that affect a significant proportion of the population. While the collective impact of the subset of the orofacial pain disorders involving neurogenic and idiopathic mechanisms is substantial, some of these are relatively uncommon. Hence, patients with these disorders can be vulnerable to misdiagnosis, sometimes for years, increasing the symptom burden and delaying effective treatment. This manuscript first reviews the decision tree to be followed in diagnosing any neuropathic pain condition, as well as the levels of evidence needed to make a diagnosis with each of several levels of confidence: definite, probable, or possible. It then examines the clinical literature related to the idiopathic and neurogenic conditions that can occasion chronic orofacial pain, including burning mouth syndrome, trigeminal neuralgia, glossopharyngeal neuralgia, post-herpetic neuralgia, and atypical odontalgia. Temporomandibular disorders also are examined as are other headache conditions, even though they are not neurologic conditions, because they are common and can mimic symptoms of the latter disorders. For each of these conditions, the paper reviews literature regarding incidence and prevalence, physiologic and other contributing factors, diagnostic signs and symptoms, and empirical evidence regarding treatments. Finally, in order to improve the quality and accuracy of clinical diagnosis, as well as the efficiency with which effective treatment is initiated and delivered, criteria are offered that can be instrumental in making a differential diagnosis.

  19. Chronic physical conditions in older adults with mental illness and/ or substance use disorders.

    Science.gov (United States)

    Lin, Wen-Chieh; Zhang, Jianying; Leung, Gary Y; Clark, Robin E

    2011-10-01

    To examine the association between mental illness and chronic physical conditions in older adults and investigate whether co-occurring substance use disorders (SUDs) are associated with greater risk of chronic physical conditions beyond mental illness alone. A retrospective cross-sectional study. Medicare and Medicaid programs in Massachusetts. Massachusetts Medicare and Medicaid members aged 65 and older as of January 1, 2005 (N = 679,182). Diagnoses recorded on Medicare and Medicaid claims were used to identify mental illness, SUDs, and 15 selected chronic physical conditions. Community-dwelling older adults with mental illness or SUDs had higher adjusted risk for 14 of the 15 selected chronic physical conditions than those without these disorders; the only exception was eye diseases. Moreover, those with co-occurring SUDs and mental illness had the highest adjusted risk for 11 of these chronic conditions. For residents of long-term care facilities, mental illness and SUDs were only moderately associated with the risk of chronic physical conditions. Community-dwelling older adults with mental illness or SUDs, particularly when they co-occurred, had substantially greater medical comorbidity than those without these disorders. For residents of long-term care facilities, the generally uniformly high medical comorbidity may have moderated this relationship, although their high prevalence of mental illness and SUDs signified greater healthcare needs. These findings strongly suggest the imminent need for integrating general medical care, mental health services, and addiction health services for older adults with mental illness or SUDs. © 2011, Copyright the Authors Journal compilation © 2011, The American Geriatrics Society.

  20. [Tic suppression is a new evidence-based non-farmacological treatment of chronic tic disorder].

    Science.gov (United States)

    Sørensen, Camilla Birgitte; Debes, Nanette Mol; Skov, Liselotte; Miranda, Maria J

    2017-03-06

    Chronic tic disorder and Tourette syndrome are both chronic and impairing neurobiological disorders starting in childhood with a prevalence between 0.4 and 1.6%. Traditionally, pharmacological therapies have been first-line treatment but are often associated with adverse effects. Recently behavioural therapy has shown to be effective in treating tics and today both habit reversal (HR) and exposure and response prevention (ERP) are recommended as first-line treatments. HR and ERP are now available for Danish patients. This article describes the evidence and recommendations for both therapies.

  1. Molecular diagnostics of myeloproliferative neoplasms.

    Science.gov (United States)

    Langabeer, Stephen E; Andrikovics, Hajnalka; Asp, Julia; Bellosillo, Beatriz; Carillo, Serge; Haslam, Karl; Kjaer, Lasse; Lippert, Eric; Mansier, Olivier; Oppliger Leibundgut, Elisabeth; Percy, Melanie J; Porret, Naomi; Palmqvist, Lars; Schwarz, Jiri; McMullin, Mary F; Schnittger, Susanne; Pallisgaard, Niels; Hermouet, Sylvie

    2015-10-01

    Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been identified. These discoveries have been rapidly incorporated into evolving molecular diagnostic algorithms. Whilst many of these mutations appear to have prognostic implications, establishing MPN diagnosis is of immediate clinical importance with selection, implementation and the continual evaluation of the appropriate laboratory methodology to achieve this diagnosis similarly vital. The advantages and limitations of these approaches in identifying and quantitating the common MPN-associated mutations are considered herein with particular regard to their clinical utility. The evolution of molecular diagnostic applications and platforms has occurred in parallel with the discovery of MPN-associated mutations, and it therefore appears likely that emerging technologies such as next-generation sequencing and digital PCR will in the future play an increasing role in the molecular diagnosis of MPN. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. Hippocampal activation of microglia may underlie the shared neurobiology of comorbid posttraumatic stress disorder and chronic pain.

    Science.gov (United States)

    Sun, Rao; Zhang, Zuoxia; Lei, Yishan; Liu, Yue; Lu, Cui'e; Rong, Hui; Sun, Yu'e; Zhang, Wei; Ma, Zhengliang; Gu, Xiaoping

    2016-01-01

    The high comorbidity rates of posttraumatic stress disorder and chronic pain have been widely reported, but the underlying mechanisms remain unclear. Emerging evidence suggested that an excess of inflammatory immune activities in the hippocampus involved in the progression of both posttraumatic stress disorder and chronic pain. Considering that microglia are substrates underlying the initiation and propagation of the neuroimmune response, we hypothesized that stress-induced activation of hippocampal microglia may contribute to the pathogenesis of posttraumatic stress disorder-pain comorbidity. We showed that rats exposed to single prolonged stress, an established posttraumatic stress disorder model, exhibited persistent mechanical allodynia and anxiety-like behavior, which were accompanied by increased activation of microglia and secretion of pro-inflammatory cytokines in the hippocampus. Correlation analyses showed that hippocampal activation of microglia was significantly correlated with mechanical allodynia and anxiety-like behavior. Our data also showed that both intraperitoneal and intra-hippocampal injection of minocycline suppressed single prolonged stress-induced microglia activation and inflammatory cytokines accumulation in the hippocampus, and attenuated both single prolonged stress-induced mechanical allodynia and anxiety-like behavior. Taken together, the present study suggests that stress-induced microglia activation in the hippocampus may serve as a critical mechanistic link in the comorbid relationship between posttraumatic stress disorder and chronic pain. The novel concept introduces the possibility of cotreating chronic pain and posttraumatic stress disorder. © The Author(s) 2016.

  3. Immediate-Release Methylphenidate for ADHD in Children with Comorbid Chronic Multiple Tic Disorder

    Science.gov (United States)

    Gadow, Kenneth D.; Sverd, Jeffrey; Nolan, Edith E.; Sprafkin, Joyce; Schneider, Jayne

    2007-01-01

    Objective: To examine the safety and efficacy of immediate-release methylphenidate (MPH-IR) for the treatment of attention-deficit/hyperactivity disorder (ADHD) in children (ages 6-12 years) with Tourette's syndrome (96%) or chronic motor tic disorder (4%). Method: Two cohorts of prepubertal children (N = 71) received placebo and three doses of…

  4. Effects of chronic radiation exposure on the reproduction of dogs

    International Nuclear Information System (INIS)

    Shifrine, M.; Kawakami, T.G.; Rasmussen, C.

    1984-01-01

    During studies on radiation leukemogenesis 7 dogs were exposed to 4.4 R/day starting at 150 days of age. Three of these dogs were females. To determine whether the exposure to chronic irradiation affected their reproductive capacity the three bitches were bred. Two of the bitches did not conceive, and one of these died shortly thereafter from myeloproliferative disease (MPD) which could have been a factor. The third bitch whelped 7 pups, one of which died shortly after birth, and the other 6 are healthy 2 months after birth. 1 table

  5. Second malignancies in hydroxyurea and interferon-treated Philadelphia-negative myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Hansen, Iben Onsberg; Sørensen, Anders Lindholm; Hasselbalch, Hans Carl

    2017-01-01

    OBJECTIVE: In an era of controversy in regard to 'hydroxyurea-leukaemogenicity' and when interferon-alfa2 (IFN) is being revived in the treatment of Philadelphia-negative myeloproliferative neoplasms (MPNs), we aim in this single-centre observational study to describe the frequencies of second...... malignancies in a cohort of MPN patients treated with hydroxyurea (HU) or IFN monotherapy or the combination of these agents. PATIENTS AND METHODS: Records of a MPN cohort of 196 patients were reviewed, and a retrospective analysis was performed on 90 patients treated with HU, 38 patients treated with IFN...

  6. TET2, ASXL1, IDH1, and IDH2 Single Nucleotide Polymorphisms in Turkish Patients with Chronic Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Nur Soyer

    2017-06-01

    Full Text Available We aimed to determine the genotype distribution, allele frequency, and prognostic impact of IDH1/2, TET2, and ASXL1 single nucleotide polymorphisms (SNPs in myeloproliferative neoplasms (MPNs. TET2 (rs763480, ASXL1 (rs2208131, and IDH1 (rs11554137 variant homozygous genotype frequencies were found at rates of 1.5%, 9.2%, and 2.3%, respectively. No IDH2 SNP was identified. IDH1 and TET2 frequencies were 5% in essential thrombocythemia (ET and 1.7% in ET and 5% in primary myelofibrosis (PMF, respectively. ASXL1 frequencies were 8.3%-10% in MPN subgroups. The TET2 mutant allele T and ASXL1 mutant allele G had the highest frequencies with 0.272 in the PMF and 0.322 in the polycythemia vera (PV group, respectively. There was no impact of the SNPs on prognosis. IDH1 frequency in MPNs was found similar to the literature. ASXL1 frequencies were similar between ET, PV, and PMF patients. The ASXL1 and TET2 allele frequencies of the Turkish population are similar to those of the European population. The role of SNPs in MPNs might be further evaluated in larger multicenter studies.

  7. Mechanisms of mutations in myeloproliferative neoplasms.

    Science.gov (United States)

    Levine, Ross L

    2009-12-01

    In recent years, a series of studies have provided genetic insight into the pathogenesis of myeloproliferative neoplasms (MPNs). It is now known that JAK2V617F mutations are present in 90% of patients with polycythaemia vera (PV), 60% of patients with essential thrombocytosis (ET) and 50% of patients with myelofibrosis (MF). Despite the high prevalence of JAK2V617F mutations in these three myeloid malignancies, several questions remain. For example, how does one mutation contribute to the pathogenesis of three clinically distinct diseases, and how do some patients develop these diseases in the absence of a JAK2V617F mutation? Single nucleotide polymorphisms at various loci and somatic mutations, such as those in MPLW515L/K, TET2 and in exon 12 of JAK2, may also contribute to the pathogenesis of these MPNs. There are likely additional germline and somatic genetic factors important to the MPN phenotype. Additional studies of large MPN and control cohorts with new techniques will help identify these factors.

  8. Depressive Disorder, Anxiety Disorder and Chronic Pain: Multiple Manifestations of a Common Clinical and Pathophysiological Core.

    Science.gov (United States)

    Arango-Dávila, Cesar A; Rincón-Hoyos, Hernán G

    A high proportion of depressive disorders are accompanied by anxious manifestations, just as depression and anxiety often present with many painful manifestations, or conversely, painful manifestations cause or worsen depressive and anxious expressions. There is increasingly more evidence of the pathophysiological, and neurophysiological and technical imaging similarity of pain and depression. Narrative review of the pathophysiological and clinical aspects of depression and chronic pain comorbidity. Research articles are included that emphasise the most relevant elements related to understanding the pathophysiology of both manifestations. The pathological origin, physiology and clinical approach to these disorders have been more clearly established with the latest advances in biochemical and cellular techniques, as well as the advent of imaging technologies. This information is systematised with comprehensive images and clinical pictures. The recognition that the polymorphism of inflammation-related genes generates susceptibility to depressive manifestations and may modify the response to antidepressant treatments establishes that the inflammatory response is not only an aetiopathogenic component of pain, but also of stress and depression. Likewise, the similarity in approach with images corroborates not only the structural, but the functional and pathophysiological analogy between depression and chronic pain. Knowledge of depression-anxiety-chronic pain comorbidity is essential in the search for effective therapeutic interventions. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  9. Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia

    International Nuclear Information System (INIS)

    Patnaik, M M; Tefferi, A

    2016-01-01

    Chronic myelomonocytic leukemia (CMML) is a clonal stem cell disorder associated with peripheral blood monocytosis and an inherent tendency to transform to acute myeloid leukemia. CMML has overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms. Clonal cytogenetic changes are seen in ~30%, whereas gene mutations are seen in >90% of patients. Common cytogenetic abnormalities include; trisomy 8, -Y, -7/del(7q), trisomy 21 and del(20q), with the Mayo–French risk stratification effectively risk stratifying patients based on cytogenetic abnormalities. Gene mutations frequently involve epigenetic regulators (TET2 ~60%), modulators of chromatin (ASXL1 ~40%), spliceosome components (SRSF2 ~50%), transcription factors (RUNX1 ~15%) and signal pathways (RAS ~30%, CBL ~15%). Of these, thus far, only nonsense and frameshift ASXL1 mutations have been shown to negatively impact overall survival. This has resulted in the development of contemporary, molecularly integrated (inclusive of ASXL1 mutations) CMML prognostic models, including Molecular Mayo Model and the Groupe Français des Myélodysplasies model. Better understanding of the prevalent genetic and epigenetic dysregulation has resulted in emerging targeted treatment options for some patients. The development of an integrated (cytogenetic and molecular) prognostic model along with CMML-specific response assessment criteria are much needed future goals

  10. Intestinal helminthiasis in children with chronic neurological disorders in Benin City, Nigeria: intensity and behavioral risk factors.

    Science.gov (United States)

    Nwaneri, Damia Uchechukwu; Ibadin, Michael Okoeguale; Ofovwe, Gabriel Egberue; Sadoh, Ayebo Evawere

    2013-05-01

    Behavioral aberrations such as nail biting, finger sucking, and pica have been postulated as risk factors that enhance helminths ova transmission. These aberrations may present commonly in children with chronic neurological disorders and predispose them to heavy intensity of intestinal helminthiasis. This comparative cross-sectional study was to determine the prevalence, intensity, and behavioral risk factors for intestinal helminthiasis in children with chronic neurological disorders and apparently healthy controls. Fresh stool samples from 155 children (2-17 years) with chronic neurological disorders seen at the child neurology clinic and 155 age and sex matched controls from nursery and primary schools in Benin City were analyzed using the Kato-Katz technique for detection of ova of helminths from November 2008 to April 2009. The prevalence of intestinal helminthiasis (31.0%) was significantly higher in children with chronic neurological disorders compared with the controls (19.4%) (P=0.03). The intensity of infections in both groups was light ranging 24-144 eggs per gram. Ascaris lumbricoides, Trichuris trichiura and hookworm were the intestinal helminths isolated in both groups. Behavioral aberrations were significantly more represented in the subjects than in the controls (Phelminthiasis (P=0.025 and 0.001, respectively) in the subjects only. Hand washing with water and soap after defecation and frequent de-worming exercise were practices significantly associated with decreased prevalence of intestinal helminthiasis in the subjects and controls. Behavioral modification in children with chronic neurological disorders should be an integral part of the control program for intestinal helminthiasis.

  11. Coexistance of JAK2V617F mutation and BCR/ABL translocation in one patient

    Directory of Open Access Journals (Sweden)

    Murat Albayrak

    2010-09-01

    Full Text Available Dear Editor,The myeloproliferative disorders (MPDs constitute a subcategory of chronic myeloid disorders and include chronic myeloid leukemia (CML, essential thrombocytemia (ET, polycythemia vera (PV and myelofibrosis (MF. In 1960, the discovery of the Philadelphia chromosome (Ph became a cornerstone in CML treatment and led to the development of moleculary targeted therapy. Recently, an acquired mutation in the Janus kinase 2 (JAK2 gene has been discovered in nearly all patents with PV and approximately half of the patients with primary MF and ET. Subsequently, the mutation has been demonstrated in atypical MPDs (chronic neutrophilic leukemia, unclassified, de novo myelodysplastic syndrome or acute myeloid leukemia.1 It has been hoped that targeted inhibition of JAK2V617F should achieve similar disease control as thyrosine kinases has produced in CML.

  12. Tourette syndrome and other chronic tic disorders: an update on clinical management.

    Science.gov (United States)

    Martino, Davide; Pringsheim, Tamara M

    2018-02-01

    The management of Tourette syndrome (TS) and other chronic tic disorders occurs in multiple stages and begins with comprehensive assessment and complex psychoeducation. Behavioral and pharmacological interventions (second stage) are needed when tics cause physical or psychosocial impairment. Deep brain stimulation surgery or experimental therapies represent the third stage. Areas covered: Discussed are recent advances in assessment and therapy of chronic tic disorders, encompassing the three stages of intervention, with the addition of experimental, non-invasive brain stimulation strategies. A PubMed search was performed using as keywords: 'tic disorders', 'Tourette syndrome', 'assessment', 'rating scales', 'behavioral treatment', 'pharmacological treatment', 'deep brain stimulation', 'transcranial magnetic (or current) stimulation', and 'transcranial current stimulation'. More than 300 peer-reviewed articles were evaluated. The studies discussed have been selected on the basis of novelty and impact. Expert commentary: Comprehensive assessment of tic disorders and psychoeducation are crucial to a correct active management approach. Behavioral treatments represent first line of active interventions, with increasing potential offered by telehealth. Antipsychotics and alpha agonists remain first line pharmacological interventions for tics, although VMAT-2 inhibitors appear promising. Deep brain stimulation is a potential option for medically refractory, severely disabled patients with tics, but age and target selection require further investigation.

  13. Posttraumatic stress disorder symptoms in youth with vs without chronic pain.

    Science.gov (United States)

    Noel, Melanie; Wilson, Anna C; Holley, Amy Lewandowski; Durkin, Lindsay; Patton, Michaela; Palermo, Tonya M

    2016-10-01

    Chronic pain and posttraumatic stress disorder (PTSD) symptoms have been found to co-occur in adults; however, research has not examined this co-occurrence in adolescence, when pediatric chronic pain often first emerges. The aims of this study were to compare the frequency and intensity of PTSD symptoms and stressful life events in cohorts of youth with (n = 95) and without (n = 100) chronic pain and their parents and to determine the association between PTSD symptoms, health-related quality of life, and pain symptoms within the chronic pain sample. All participants completed questionnaire measures through an online survey. Findings revealed that youth with chronic pain and their parents had significantly higher levels of PTSD symptoms as compared with pain-free peers. More youth with chronic pain (32%) and their parents (20%) reported clinically significant elevations in PTSD symptoms than youth without chronic pain (8%) and their parents (1%). Youth with chronic pain also reported a greater number of stressful life events than those without chronic pain, and this was associated with higher PTSD symptoms. Among the chronic pain cohort, higher levels of PTSD symptoms were predictive of worse health-related quality of life and were associated with higher pain intensity, unpleasantness, and interference. Results suggest that elevated PTSD symptoms are common and linked to reduced functioning among youth with chronic pain. Future research is needed to examine PTSD at the diagnostic level and the underlying mechanisms that may explain why this co-occurrence exists.

  14. Obsessive-compulsive disorder; chronic versus non-chronic symptoms

    NARCIS (Netherlands)

    Visser, H.A.; van Oppen, P.C.; van Megen, H.J.; Eikelenboom, M.; van Balkom, A.J.L.M.

    2014-01-01

    Objective Understanding chronicity in OCD is hampered by contradictory findings arising from dissimilar definitions of chronic OCD. The purpose of this study was to investigate the magnitude of chronicity in OCD and to examine if chronic OCD is critically different from non-chronic OCD, using a

  15. Transition to adult care for children with chronic neurological disorders.

    Science.gov (United States)

    Camfield, Peter; Camfield, Carol

    2011-03-01

    Chronic neurological disorders in children have significant effects on adult medical and social function. Transition and then formal transfer of care from pediatric to adult services is a complex process, although there are virtually no objective data to inform physicians about the most effective approach. Some neurological disorders that start in children are a danger to society if poorly treated in adulthood, some disorders that were previously lethal in childhood now permit survival well into adulthood, and others are static in childhood but progressive in adulthood. Some disorders remit or are cured in childhood but continue to have serious comorbidity in adulthood, whereas others are similar and persistent in children and adults. Maturity, provision of information, and cognitive problems are confounders. We discuss several models of transition/transfer but prefer a joint pediatric/adult transition clinic. We make a series of suggestions about how to improve the transition/transfer process with the hope of better medical and social adult outcome for children with neurological disorders. Copyright © 2011 American Neurological Association.

  16. Posttraumatic stress disorder and chronic pain are associated with opioid use disorder: Results from a 2012-2013 American nationally representative survey.

    Science.gov (United States)

    Bilevicius, Elena; Sommer, Jordana L; Asmundson, Gordon J G; El-Gabalawy, Renée

    2018-07-01

    Chronic pain conditions and posttraumatic stress disorder (PTSD) commonly co-occur and are associated with opioid use disorder (OUD). The aims of this paper were to identify prevalence estimates of OUD among individuals with and without PTSD and assess independent and combined contributions of PTSD and chronic pain conditions on OUD in a nationally representative sample. Data were extracted from 36,309 individuals from the 2012-2013 National Epidemiologic Survey on Alcohol and Related Conditions. Past-year PTSD and OUD were assessed using the Alcohol Use Disorder and Associated Disabilities Interview Schedule-DSM-5 edition. Respondents reported physician-confirmed, past-year chronic pain conditions, categorized into musculoskeletal pain (e.g., arthritis), digestive pain (e.g., pancreatitis), and nerve pain (e.g., reflex sympathetic dystrophy). We examined the weighted prevalence of OUD among those with and without PTSD. Multiple logistic regressions examined the association between PTSD and chronic pain conditions on OUD. The prevalence of OUD was higher among those with PTSD than those without. Comorbid PTSD/musculoskeletal pain and PTSD/nerve pain conditions were associated with increased odds of OUD, compared to those with neither PTSD nor chronic pain conditions. Digestive pain conditions were not associated with OUD. Comorbid PTSD/musculoskeletal pain conditions demonstrated an additive relationship on OUD compared to musculoskeletal pain conditions and PTSD alone. Results reveal that musculoskeletal pain and nerve pain conditions are associated with increased odds of OUD, but only musculoskeletal pain conditions display an additive relationship on OUD when combined with PTSD. These findings have implications for opioid management and screening among those with comorbid conditions. Copyright © 2018 Elsevier B.V. All rights reserved.

  17. Hippotherapy in adult patients with chronic brain disorders: a pilot study.

    Science.gov (United States)

    Sunwoo, Hyuk; Chang, Won Hyuk; Kwon, Jeong-Yi; Kim, Tae-Won; Lee, Ji-Young; Kim, Yun-Hee

    2012-12-01

    To investigate the effects of hippotherapy for adult patients with brain disorders. Eight chronic brain disorder patients (7 males, mean age 42.4±16.6 years) were recruited. The mean duration from injury was 7.9±7.7 years. The diagnoses were stroke (n=5), traumatic brain disorder (n=2), and cerebral palsy (n=1). Hippotherapy sessions were conducted twice a week for eight consecutive weeks in an indoor riding arena. Each hippotherapy session lasted 30 minutes. All participants were evaluated by the Berg balance scale, Tinetti Performance-Oriented Mobility Assessment, 10 Meter Walking Test, Functional Ambulatory Category, Korean Beck Depression Inventory, and Hamilton Depression Rating Scale. We performed baseline assessments twice just before starting hippotherapy. We also assessed the participants immediately after hippotherapy and at eight weeks after hippotherapy. All participants showed no difference in balance, gait function, and emotion between the two baseline assessments before hippotherapy. During the eight-week hippotherapy program, all participants showed neither adverse effects nor any accidents; all had good compliance. After hippotherapy, there were significant improvements in balance and gait speed in comparison with the baseline assessment (phippotherapy. However, there was no significant difference in emotion after hippotherapy. We could observe hippotherapy to be a safe and effective alternative therapy for adult patients with brain disorders in improving balance and gait function. Further future studies are warranted to delineate the benefits of hippotherapy on chronic stroke patients.

  18. Pervasive developmental disorder behavior in adolescents with intellectual disability and co-occurring somatic chronic diseases

    NARCIS (Netherlands)

    Oeseburg, B.; Groothoff, J. W.; Dijkstra, G. J.; Reijneveld, S. A.; Jansen, D. E. M. C.

    2010-01-01

    Evidence on the association between somatic chronic diseases in ID-adolescents and the full range of pervasive developmental disorder behavior (PDD behavior) is scarce. The aim of the present study is to assess the association between somatic chronic diseases in ID-adolescents and mild PDD behavior.

  19. Association of Tourette Syndrome and Chronic Tic Disorders With Objective Indicators of Educational Attainment: A Population-Based Sibling Comparison Study.

    Science.gov (United States)

    Pérez-Vigil, Ana; Fernández de la Cruz, Lorena; Brander, Gustaf; Isomura, Kayoko; Jangmo, Andreas; Kuja-Halkola, Ralf; Hesselmark, Eva; D'Onofrio, Brian M; Larsson, Henrik; Mataix-Cols, David

    2018-05-29

    The influence of Tourette syndrome and chronic tic disorders on academic performance has not been objectively quantified. To investigate the association of Tourette syndrome and chronic tic disorders with objectively measured educational outcomes, adjusting for measured covariates and unmeasured factors shared between siblings and taking common psychiatric comorbidities into account. A population-based birth cohort consisting of all individuals born in Sweden from 1976 to 1998 was followed up until December 2013. Individuals with organic brain disorders, mental retardation, and 2 foreign-born parents were excluded. We further identified families with at least 2 singleton full siblings and families with siblings discordant for Tourette syndrome or chronic tic disorders. Previously validated International Classification of Diseases diagnoses of Tourette syndrome or chronic tic disorders in the Swedish National Patient Register. Eligibility to access upper secondary school after compulsory education, finishing upper secondary school, starting a university degree, and finishing a university degree. Of the 2 115 554 individuals in the cohort, 3590 had registered a diagnosis of Tourette syndrome or a chronic tic disorder in specialist care (of whom 2822 [78.6%] were male; median [interquartile] age at first diagnosis, 14.0 [11-18] years). Of 726 198 families with at least 2 singleton full siblings, 2697 included siblings discordant for these disorders. Compared with unexposed individuals, people with Tourette syndrome or chronic tic disorders were significantly less likely to pass all core and additional courses at the end of compulsory school (odds ratios ranging from 0.23 [95% CI, 0.20-0.26] for the handcraft textile/wood course to 0.36 [95% CI, 0.31-0.41] for the English language course) and to access a vocational program (adjusted OR [aOR], 0.31; 95% CI, 0.28-0.34) or academic program (aOR, 0.43; 95% CI, 0.39-0.47) in upper secondary education. Individuals with

  20. Differences in 99mTc-HMPAO brain SPET perfusion imaging between Tourette's syndrome and chronic tic disorder in children

    International Nuclear Information System (INIS)

    Chiu, N.-T.; Lee, B.-F.; Chang, Y.-C.; Huang, C.-C.; Wang, S.-T.

    2001-01-01

    Early differential diagnosis between Tourette's syndrome and chronic tic disorder is difficult but important because both the outcome and the treatment of these two childhood-onset diseases are distinct. We assessed the sensitivity and specificity of brain single-photon emission tomography (SPET) perfusion imaging in distinguishing the two diseases, and characterized their different cerebral perfusion patterns. Twenty-seven children with Tourette's syndrome and 11 with chronic tic disorder (mean age 9.5 and 8.6 years, respectively) underwent brain SPET with technetium-99m hexamethylpropylene amine oxime (HMPAO). Visual interpretation and semi-quantitative analysis of SPET images were performed. On visual interpretation, 22 of 27 (82%) of the Tourette's syndrome group had lesions characterized by decreased perfusion. The left hemisphere was more frequently involved. None of the children with chronic tic disorder had a visible abnormality. Semi-quantitative analysis showed that, compared with children with chronic tic disorder, children with Tourette's syndrome had significantly lower perfusion in the left lateral temporal area and asymmetric perfusion in the dorsolateral frontal, lateral and medial temporal areas. In conclusion, using the visual approach, brain SPET perfusion imaging is sensitive and specific in differentiating Tourette's syndrome and chronic tic disorder. The perfusion difference between the two groups, demonstrated by semi-quantitative analysis, may be related more to the co-morbidity in Tourette's syndrome than to tics per se. (orig.)

  1. Prolonged striatal disinhibition as a chronic animal model of tic disorders.

    Science.gov (United States)

    Vinner, Esther; Israelashvili, Michal; Bar-Gad, Izhar

    2017-12-01

    Experimental findings and theoretical models have associated Tourette syndrome with abnormal striatal inhibition. The expression of tics, the hallmark symptom of this disorder, has been transiently induced in non-human primates and rodents by the injection of GABA A antagonists into the striatum, leading to temporary disinhibition. The novel chronic model of tic expression utilizes mini-osmotic pumps implanted subcutaneously in the rat's back for prolonged infusion of bicuculline into the dorsolateral striatum. Tics were expressed on the contralateral side to the infusion over a period of multiple days. Tic expression was stable, and maintained similar properties throughout the infusion period. Electrophysiological recordings revealed the existence of tic-related local field potential spikes and individual neuron activity changes that remained stable throughout the infusion period. The striatal disinhibition model provides a unique combination of face validity (tic expression) and construct validity (abnormal striatal inhibition) but is limited to sub-hour periods. The new chronic model extends the period of tic expression to multiple days and thus enables the study of tic dynamics and the effects of behavior and pharmacological agents on tic expression. The chronic model provides similar behavioral and neuronal correlates of tics as the acute striatal disinhibition model but over prolonged periods of time, thus providing a unique, basal ganglia initiated model of tic expression. Chronic expression of symptoms is the key to studying the time varying properties of Tourette syndrome and the effects of multiple internal and external factors on this disorder. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. Investigation of previously implicated genetic variants in chronic tic disorders

    DEFF Research Database (Denmark)

    Abdulkadir, Mohamed; Londono, Douglas; Gordon, Derek

    2017-01-01

    with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were......Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412...... families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results...

  3. Acupuncture in the treatment of a female patient suffering from chronic schizophrenia and sleep disorders

    NARCIS (Netherlands)

    Bosch, M.P.C.; Lim, S.; Yeo, S.; Lee, S.H.; Staudte, H.; Noort, M.W.M.L. van den

    2016-01-01

    Background. The use of acupuncture in the treatment of sleep disorders in patients with chronic schizophrenia is investigated. Case Presentation. We report the case of a 44-year-old female outpatient of German origin who had been suffering from long-term schizophrenia and sleep disorders. The

  4. Psychopathological Profile in Children with Chronic Tic Disorder and Co-Existing ADHD: Additive Effects

    Science.gov (United States)

    Roessner, Veit; Becker, Andreas; Banaschewski, Tobias; Rothenberger, Aribert

    2007-01-01

    The nature of the co-occurrence of chronic tic disorders (CTD) and attention deficit hyperactivity disorder (ADHD) is unclear. Especially in the field of psychopathology, the relationship of CTD and ADHD remains to be clarified. Thus, the aim of the present chart review study was to specify the contribution of CTD and/or ADHD to the…

  5. Thromboembolism prophylaxis in patients with Philadelphia-negative myeloproliferative neoplasms-Clinical practice among Nordic specialists.

    Science.gov (United States)

    Bjerrum, Ole Weis; Samuelsson, Jan; Ghanima, Waleed; Kauppila, Marjut; Andersen, Christen Lykkegaard

    2018-05-01

    Patients with Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) have higher risks of developing thromboembolisms compared to the general population. International guidelines on the management of MPNs therefore include recommendations concerning thromboembolism prophylaxis. In clinical practice, strict adherence to guidelines may be challenging and dependent on factors such as physician experience, outpatient clinic setting, and access to therapy; however, no data exist on physician adherence or patient compliance to thromboembolism prophylaxis in MPNs. The Nordic Myeloproliferative Neoplasm Study Group (NMPN) performed a survey among Nordic hematology specialists with the aim of documenting the implementation of international recommendations in a region of Northern Europe with similar healthcare systems. The study showed that Nordic specialists managed their patients in accordance with international guidelines concerning medical intervention, but to a lesser degree regarding the management of additional cardiovascular risk factors. The survey also drew attention to the common clinical dilemma of combining antiaggregatory agents with vitamin K antagonists (VKA), or novel oral anticoagulants (NOAC), as well as phlebotomy limits in female polycythemia vera patients. The results of this study highlight the importance of considering all risk factors for thrombosis and an optimal collaboration with the primary healthcare sector. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Comparative study of children with ADHD only, autism spectrum disorder + ADHD, and chronic multiple tic disorder + ADHD.

    Science.gov (United States)

    Gadow, Kenneth D; DeVincent, Carla J; Schneider, Jayne

    2009-03-01

    Identification of differences among children with ADHD only, autism spectrum disorder (ASD)+ADHD, and chronic multiple tic disorder (CMTD)+ADHD may lead to better understanding of clinical phenotypes. Children were evaluated using the parent- and teacher-completed questionnaires. All three groups were highly similar in severity of oppositional defiant disorder and conduct disorder symptoms; however, the ASD+ADHD group generally exhibited the most severe anxiety, although the CMTD+ADHD group had the most severe generalized anxiety. The two comorbid groups had the most involved medical histories and the greatest likelihood of a family history of psychopathology. Groups differed in clinically meaningful ways, and the apparent association between tics and anxiety may explain in part the elevated levels of anxiety in both comorbid groups. Collectively, results suggest that ADHD may be better conceptualized as a family of interrelated syndromes defined in part by comorbid conditions and that continued research is clearly warranted.

  7. Chronic Pain in Children and Adolescents: Diagnosis and Treatment of Primary Pain Disorders in Head, Abdomen, Muscles and Joints.

    Science.gov (United States)

    Friedrichsdorf, Stefan J; Giordano, James; Desai Dakoji, Kavita; Warmuth, Andrew; Daughtry, Cyndee; Schulz, Craig A

    2016-12-10

    Primary pain disorders (formerly "functional pain syndromes") are common, under-diagnosed and under-treated in children and teenagers. This manuscript reviews key aspects which support understanding the development of pediatric chronic pain, points to the current pediatric chronic pain terminology, addresses effective treatment strategies, and discusses the evidence-based use of pharmacology. Common symptoms of an underlying pain vulnerability present in the three most common chronic pain disorders in pediatrics: primary headaches, centrally mediated abdominal pain syndromes, and/or chronic/recurrent musculoskeletal and joint pain. A significant number of children with repeated acute nociceptive pain episodes develop chronic pain in addition to or as a result of their underlying medical condition "chronic-on-acute pain." We provide description of the structure and process of our interdisciplinary, rehabilitative pain clinic in Minneapolis, Minnesota, USA with accompanying data in the treatment of chronic pain symptoms that persist beyond the expected time of healing. An interdisciplinary approach combining (1) rehabilitation; (2) integrative medicine/active mind-body techniques; (3) psychology; and (4) normalizing daily school attendance, sports, social life and sleep will be presented. As a result of restored function, pain improves and commonly resolves. Opioids are not indicated for primary pain disorders, and other medications, with few exceptions, are usually not first-line therapy.

  8. The role of psychosocial stress in the development of chronic musculoskeletal pain disorders: protocol for a systematic review and meta-analysis.

    Science.gov (United States)

    Buscemi, Valentina; Chang, Wei-Ju; Liston, Matthew B; McAuley, James H; Schabrun, Siobhan

    2017-11-03

    Psychosocial factors play an important role in chronic musculoskeletal pain disorders. Although psychosocial stress is likely to contribute to the development of chronic musculoskeletal pain, investigations are limited to work-related stress or examination of specific conditions such as upper limb pain. The purpose of this review is to assess the evidence for an aetiological role of psychological stress in chronic musculoskeletal pain disorders. A systematic review and meta-analysis will be conducted. Electronic databases will be searched using predefined search terms to identify relevant studies. Data will be extracted by two independent reviewers, and disagreement will be resolved by a third reviewer. Only prospective longitudinal studies that assess psychosocial stress at baseline will be included. The population of interest will be inception cohorts or cohorts of people who have not yet developed chronic musculoskeletal pain disorders. The primary outcome measure will be the onset of chronic musculoskeletal pain. To our knowledge, this review will be the first to systematically explore the available evidence on the aetiological role of psychosocial stress for the development of chronic musculoskeletal pain disorders. This review has the capacity to inform clinical practice on the importance of an early identification and, consequently, treatment of individuals who present with acute musculoskeletal disorders accompanied by a high level of stress. PROSPERO CRD42017059949.

  9. The social position of adolescents and young adults with chronic digestive disorders

    NARCIS (Netherlands)

    Calsbeek, Hiske

    2003-01-01

    A chronic digestive disorder can be accompanied by -sometimes embarrassing- symptoms and complaints, such as pain, lack of energy, flatulency or incontinence, which can affect the social position of patients. In addition, diet commitments, or worries about toilet facilities can have a serious impact

  10. Pervasive Developmental Disorder Behavior in Adolescents with Intellectual Disability and Co-Occurring Somatic Chronic Diseases

    Science.gov (United States)

    Oeseburg, B.; Groothoff, J. W.; Dijkstra, G. J.; Reijneveld, S. A.; Jansen, D. E. M. C.

    2010-01-01

    Evidence on the association between somatic chronic diseases in ID-adolescents and the full range of pervasive developmental disorder behavior (PDD behavior) is scarce. The aim of the present study is to assess the association between somatic chronic diseases in ID-adolescents and mild PDD behavior. We obtained data on 1044 ID-adolescents, aged…

  11. Workplace phobia, workplace problems, and work ability among primary care patients with chronic mental disorders.

    Science.gov (United States)

    Muschalla, Beate; Linden, Michael

    2014-01-01

    Work-related anxieties are frequent and have a negative effect on the occupational performance of patients and absence due to sickness. Most important is workplace phobia, that is, panic when approaching or even thinking of the workplace. This study is the first to estimate the prevalence of workplace phobia among primary care patients suffering from chronic mental disorders and to describe which illness-related or workplace-specific context factors are associated with workplace phobia. A convenience sample of 288 primary care patients with chronic mental disorders (70% women) seen by 40 primary care clinicians in Germany were assessed using a standardized diagnostic interview about mental disorders and workplace problems. Workplace phobia was assessed by the Workplace Phobia Scale and a structured Diagnostic and Statical Manual of Mental Disorders-based diagnostic interview. In addition, capacity and participation restrictions, illness severity, and sick leave were assessed. Workplace phobia was found in 10% of patients with chronic mental disorders, that is, approximately about 3% of all general practice patients. Patients with workplace phobia had longer durations of sick leave than patients without workplace phobia and were impaired to a higher degree in work-relevant capacities. They also had a higher degree of restrictions in participation in other areas of life. Workplace phobia seems to be a frequent problem in primary care. It may behoove primary care clinicians to consider workplace-related anxiety, including phobia, particularly when patients ask for a work excuse for nonspecific somatic complaints. © Copyright 2014 by the American Board of Family Medicine.

  12. Acid-Base and Electrolyte Disorders in Patients with and without Chronic Kidney Disease: An Update.

    Science.gov (United States)

    Dhondup, Tsering; Qian, Qi

    2017-12-01

    Kidneys play a pivotal role in the maintenance and regulation of acid-base and electrolyte homeostasis, which is the prerequisite for numerous metabolic processes and organ functions in the human body. Chronic kidney diseases compromise the regulatory functions, resulting in alterations in electrolyte and acid-base balance that can be life-threatening. In this review, we discuss the renal regulations of electrolyte and acid-base balance and several common disorders including metabolic acidosis, alkalosis, dysnatremia, dyskalemia, and dysmagnesemia. Common disorders in chronic kidney disease are also discussed. The most recent and relevant advances on pathophysiology, clinical characteristics, diagnosis, and management of these conditions have been incorporated.

  13. Chronic obstructive pulmonary disease associated with increased risk of bipolar disorder.

    Science.gov (United States)

    Su, Vincent Yi-Fong; Hu, Li-Yu; Yeh, Chiu-Mei; Chiang, Huey-Ling; Shen, Cheng-Che; Chou, Kun-Ta; Chen, Tzeng-Ji; Lu, Ti; Tzeng, Cheng-Hwai; Liu, Chia-Jen

    2017-05-01

    Epidemiological studies have identified a trend in the development of depressive and anxiety disorders following a diagnosis of chronic obstructive pulmonary disease (COPD). However, the relationship between COPD and subsequent bipolar disorder remains unclear. From January 1, 2000, we identified adult patients with COPD from the Taiwan National Health Insurance Research Database. A nationwide population-based study was conducted; 46,778 COPD patients and 46,778 age-, sex-, and comorbidity-matched subjects between 2000 and 2011 were enrolled. The two cohorts were followed up till December 31, 2011 and observed for occurrence of bipolar disorder. We observed the COPD and comparison cohorts for 263,020 and 267,895 person-years, respectively, from 2000 to 2011. The incidence rate for bipolar disorder was 1.6/1000 person-years in the COPD cohort and 1.2/1000 person-years in the comparison cohort ( p bipolar disorder among the COPD patients was 1.42 (95% confidence interval [CI], 1.22-1.64; p bipolar disorder development (HR = 1.83, 95% CI = 1.25-2.69, p = 0.002). Other COPD medications were not associated with the risk of bipolar disorder development. The study results indicate that COPD may be an independent risk factor for the development of bipolar disorder. The regular use of SABAs might increase the risk of bipolar disorder in COPD patients.

  14. Loss of aryl hydrocarbon receptor promotes gene changes associated with premature hematopoietic stem cell exhaustion and development of a myeloproliferative disorder in aging mice.

    Science.gov (United States)

    Singh, Kameshwar P; Bennett, John A; Casado, Fanny L; Walrath, Jason L; Welle, Stephen L; Gasiewicz, Thomas A

    2014-01-15

    Loss of immune function and increased hematopoietic disease are among the most clinically significant consequences of aging. Hematopoietic stem cells (HSCs) from mice lacking aryl hydrocarbon receptor (AhR) have high rates of cell division. Studies were designed to test the hypothesis that aging AhR-null allele (AhR-KO) mice develop premature HSC exhaustion, and changes leading to hematological disease. Compared to wild-type, aging AhR-KO mice showed a decreased survival rate, splenomegaly, increased circulating white blood cells, hematopoietic cell accumulation in tissues, and anemia. Analysis of bone marrow indicated increased numbers of stem/progenitor and lineage-committed cells, but decreased erythroid progenitors. There was also decreased self-renewal capacity of HSCs determined by competitive repopulation and serial transplantation. HSCs also showed increased levels of reactive oxygen species (ROS), Ki-67, and γ-H2A.X, but decreased p16(Ink4a). Splenic cells from aging KO mice had abnormal expression of genes, including Gata-1, Sh2d3c, Gfi-1, p21, and c-myc, involved in trafficking and associated with leukemia. HSCs from AhR-KO mice had gene changes related to HSC maintenance and consistent with phenotype observed. The most prominent gene changes (overexpression of Srpk2, Creb1, Hes1, mtor, pdp1) have been associated with HSC hyperproliferation, leukemia, and accelerated aging. Pathway analyses also indicated an enrichment of genes associated with oxidative stress, acute myelogenous leukemia, aging, and heat shock response, and the β-catenin/Wnt pathways. These data indicate that loss of AhR and associated changes in multiple signaling pathways promote premature HSC exhaustion and development of a myeloproliferative disorder. They also implicate a critical role of the AhR in the regulation of HSCs.

  15. Chronic Temporomandibular Disorders: disability, pain intensity and fear of movement.

    Science.gov (United States)

    Gil-Martínez, Alfonso; Grande-Alonso, Mónica; López-de-Uralde-Villanueva, Ibai; López-López, Almudena; Fernández-Carnero, Josué; La Touche, Roy

    2016-12-01

    The objective was to compare and correlate disability, pain intensity, the impact of headache on daily life and the fear of movement between subgroups of patients with chronic temporomandibular disorder (TMD). A cross-sectional study was conducted in patients diagnosed with chronic painful TMD. Patients were divided into: 1) joint pain (JP); 2) muscle pain (MP); and 3) mixed pain. The following measures were included: Craniomandibular pain and disability (Craniofacial pain and disability inventory), neck disability (Neck Dsiability Index), pain intensity (Visual Analogue Scale), impact of headache (Headache Impact Test 6) and kinesiophobia (Tampa Scale of Kinesiophobia-11). A total of 154 patients were recruited. The mixed pain group showed significant differences compared with the JP group or MP group in neck disability (p craniomandibular pain and disability (p Neck disability was a significant covariate (37 % of variance) of craniomandibular pain and disability for the MP group (β = 0.62; p neck disability (β = 0.40; p craniomandibular pain and disability. Mixed chronic pain patients show greater craniomandibular and neck disability than patients diagnosed with chronic JP or MP. Neck disability predicted the variance of craniofacial pain and disability for patients with MP. Neck disability and kinesiophobia predicted the variance of craniofacial pain and disability for those with chronic mixed pain.

  16. Primary care nursing activities with patients affected by physical chronic disease and common mental disorders: a qualitative descriptive study.

    Science.gov (United States)

    Girard, Ariane; Hudon, Catherine; Poitras, Marie-Eve; Roberge, Pasquale; Chouinard, Maud-Christine

    2017-05-01

    To describe nursing activities in primary care with patients affected by physical chronic disease and common mental disorders. Patients in primary care who are affected by physical chronic disease and common mental disorders such as anxiety and depression require care and follow-up based on their physical and mental health condition. Primary care nurses are increasingly expected to contribute to the care and follow-up of this growing clientele. However, little is known about the actual activities carried out by primary care nurses in providing this service in the Province of Quebec (Canada). A qualitative descriptive study was conducted. Data were obtained through semistructured individual interviews with 13 nurses practising among patients with physical chronic disease in seven Family Medicine Groups in Quebec (Canada). Participants described five activity domains: assessment of physical and mental health condition, care planning, interprofessional collaboration, therapeutic relationship and health promotion. The full potential of primary care nurses is not always exploited, and some activities could be improved. Evidence for including nurses in collaborative care for patients affected by physical chronic disease and common mental disorders has been shown but is not fully implemented in Family Medicine Groups. Future research should emphasise collaboration among mental health professionals, primary care nurses and family physicians in the care of patients with physical chronic disease and common mental disorders. Primary care nurses would benefit from gaining more knowledge about common mental disorders and from identifying the resources they need to contribute to managing them in an interdisciplinary team. © 2016 John Wiley & Sons Ltd.

  17. Frequency of JAK2 V617F mutation in patients with Philadelphia positive Chronic Myeloid Leukemia in Pakistan.

    Science.gov (United States)

    Tabassum, Najia; Saboor, Mohammed; Ghani, Rubina; Moinuddin, Moinuddin

    2014-01-01

    Co-existence of myeloproliferative disorders (MPD) and Janus associated kinase 2 mutation (JAK2 V617F) is a well-established fact. Only few case reports are available showing presence of JAK2 V617F mutation in chronic myeloid leukemia (CML). Purpose of this study was to determine the frequency of JAK2 V617F mutation in Philadelphia Chromosome positive (Ph (+)) CML patients in Pakistan. The study was conducted from August 2009 to July 2010 at Civil Hospital and Baqai Institute of Hematology (BIH) Karachi. Blood samples from 25 patients with CML were collected. Multiplex reverse transcription polymerase chain reaction (RT-PCR) was performed for Breakpoint Cluster Region - Abelson (BCR-ABL) rearrangement. Conventional PCR was performed for JAK2 V617F mutation on BCR-ABL positive samples. All 25 samples showed BCR-ABL rearrangement. Out of these 11 samples (44%) had JAK2 V617F mutation; the remaining 14 (56%) cases showed JAK2 617V wild type. It is concluded that the co-existence of Ph (+)CML and JAK2 V617F mutation is possible.

  18. Chronic Pain in Children and Adolescents: Diagnosis and Treatment of Primary Pain Disorders in Head, Abdomen, Muscles and Joints

    Directory of Open Access Journals (Sweden)

    Stefan J. Friedrichsdorf

    2016-12-01

    Full Text Available Primary pain disorders (formerly “functional pain syndromes” are common, under-diagnosed and under-treated in children and teenagers. This manuscript reviews key aspects which support understanding the development of pediatric chronic pain, points to the current pediatric chronic pain terminology, addresses effective treatment strategies, and discusses the evidence-based use of pharmacology. Common symptoms of an underlying pain vulnerability present in the three most common chronic pain disorders in pediatrics: primary headaches, centrally mediated abdominal pain syndromes, and/or chronic/recurrent musculoskeletal and joint pain. A significant number of children with repeated acute nociceptive pain episodes develop chronic pain in addition to or as a result of their underlying medical condition “chronic-on-acute pain.” We provide description of the structure and process of our interdisciplinary, rehabilitative pain clinic in Minneapolis, Minnesota, USA with accompanying data in the treatment of chronic pain symptoms that persist beyond the expected time of healing. An interdisciplinary approach combining (1 rehabilitation; (2 integrative medicine/active mind-body techniques; (3 psychology; and (4 normalizing daily school attendance, sports, social life and sleep will be presented. As a result of restored function, pain improves and commonly resolves. Opioids are not indicated for primary pain disorders, and other medications, with few exceptions, are usually not first-line therapy.

  19. Chronic Pain in Children and Adolescents: Diagnosis and Treatment of Primary Pain Disorders in Head, Abdomen, Muscles and Joints

    Science.gov (United States)

    Friedrichsdorf, Stefan J.; Giordano, James; Desai Dakoji, Kavita; Warmuth, Andrew; Daughtry, Cyndee; Schulz, Craig A.

    2016-01-01

    Primary pain disorders (formerly “functional pain syndromes”) are common, under-diagnosed and under-treated in children and teenagers. This manuscript reviews key aspects which support understanding the development of pediatric chronic pain, points to the current pediatric chronic pain terminology, addresses effective treatment strategies, and discusses the evidence-based use of pharmacology. Common symptoms of an underlying pain vulnerability present in the three most common chronic pain disorders in pediatrics: primary headaches, centrally mediated abdominal pain syndromes, and/or chronic/recurrent musculoskeletal and joint pain. A significant number of children with repeated acute nociceptive pain episodes develop chronic pain in addition to or as a result of their underlying medical condition “chronic-on-acute pain.” We provide description of the structure and process of our interdisciplinary, rehabilitative pain clinic in Minneapolis, Minnesota, USA with accompanying data in the treatment of chronic pain symptoms that persist beyond the expected time of healing. An interdisciplinary approach combining (1) rehabilitation; (2) integrative medicine/active mind-body techniques; (3) psychology; and (4) normalizing daily school attendance, sports, social life and sleep will be presented. As a result of restored function, pain improves and commonly resolves. Opioids are not indicated for primary pain disorders, and other medications, with few exceptions, are usually not first-line therapy. PMID:27973405

  20. Cervical Muscle Dysfunction in the Chronic Whiplash Associated Disorder Grade II (WAD-II)

    NARCIS (Netherlands)

    Nederhand, Marcus Johannes; IJzerman, Maarten Joost; Hermens, Hermanus J.; Baten, Christian T.M.; Zilvold, Gerrit

    2000-01-01

    Study Design: In a cross-sectional study, surface electromyography measurements of the upper trapezius muscles were obtained during different functional tasks in patients with a chronic whiplash associated disorder Grade II and healthy control subjects. - Objectives: To investigate whether muscle

  1. Chronic disruptive pain in emerging adults with and without chronic health conditions and the moderating role of psychiatric disorders: Evidence from a population-based cross-sectional survey in Canada.

    Science.gov (United States)

    Qadeer, Rana A; Shanahan, Lilly; Ferro, Mark A

    2017-10-01

    There has been a growth in the proportion of emerging adults vulnerable to pain-related sequelae of chronic health conditions (CHCs). Given the paucity of research during this important developmental period, this study investigated the association between CHCs and chronic disruptive pain among emerging adults and the extent to which psychiatric disorders moderate this association. Data come from the 2012 Canadian Community Health Survey - Mental Health (CCHS-MH). This cross-sectional survey included 5987 participants that were 15-30 years of age and self-reported their CHCs (n=2460, 41%) and the extent to which pain impacted daily functioning using items from the Health Utilities Index Mark 3 (HUI 3). Group comparisons between respondents with CHCs and healthy controls were made using chi-square tests. Odds ratios (OR) and 95% confidence intervals (CI) were computed from ordinal logistic regression models adjusting for sociodemographic covariates. Product-term interactions between CHCs and psychiatric disorders were included in the models to explore moderating effects. All analyses were weighted to maintain representativeness of the study sample to the Canadian population. The mean age of participants was 23.5 (SE 0.1) years and 48% were female. Compared to healthy controls, a greater proportion of participants with CHCs reported having chronic pain (20.3% vs. 4.5%, pmoderate the association between CHCs and chronic disruptive pain. Specifically, the probability of chronic disruptive pain was higher for emerging adults without CHCs and with alcohol or drug disorders; however, among participants with CHCs, probability was higher for those without these disorders. There is a robust association between CHCs and chronic disruptive pain. The moderating effects suggest that alcohol or drug disorders are especially harmful for emerging adults without CHCs and contribute to higher levels of chronic disruptive pain; however, among those with CHCs, alcohol and illicit drugs

  2. Chronic Myeloproliferative Neoplasms Treatment

    Science.gov (United States)

    ... Treatment for information on diagnosis , staging , and treatment. Polycythemia Vera Key Points Polycythemia vera is a disease ... blood tests are used to diagnose polycythemia vera. Polycythemia vera is a disease in which too many ...

  3. Prevalence and Determinants of Chronic Post-Traumatic Stress Disorder After Floods.

    Science.gov (United States)

    Chen, Long; Tan, Hongzhuan; Cofie, Reuben; Hu, Shimin; Li, Yan; Zhou, Jia; Yang, Tubao; Tang, Xuemin; Cui, Guanghui; Liu, Aizhong

    2015-10-01

    To explore the prevalence and determinants of chronic post-traumatic stress disorder (PTSD) among flood victims. A cross-sectional survey was carried out in 2014 among individuals who had experienced the 1998 floods and had been diagnosed with PTSD in 1999 in Hunan, China. Cluster sampling was used to select subjects from the areas that had been surveyed in 1999. PTSD was diagnosed according to DSM-IV criteria, social support was measured according to a Social Support Rating Scale, coping style was measured according to a Simplified Coping Style Questionnaire, and personality was measured by use of the revised Eysenck Personality Questionnaire Short Scale for Chinese. Data were collected through face-to-face interviews by use of a structured questionnaire. Multivariate logistic regression analysis was used to reveal the determinants of chronic PTSD. A total of 123 subjects were interviewed, 17 of whom (14.4%) were diagnosed with chronic PTSD. Chronic PTSD was significantly associated with disaster stressors (odds ratio [OR]: 1.74; 95% confidence interval [CI]: 1.22-2.47), nervousness (OR: 1.09; 95% CI: 1.01-1.17), and social support (OR: 0.85; 95 CI%: 0.74-0.98). Chronic PTSD in flood victims is significantly associated with disaster stressors, nervousness, and social support. These factors may play important roles in identifying persons at high risk of chronic PTSD.

  4. MRI of perineural extramedullary granulocytic sarcoma

    Energy Technology Data Exchange (ETDEWEB)

    Graham, A. [Rehabilitation Medicine, Hunters Moor Neurological Rehabilitation Centre, Newcastle-Upon-Tyne (United Kingdom); Hodgson, T. [Neuroradiology Dept., Royal Hallamshire Hospital, Sheffield (United Kingdom); Jacubowski, J. [Neurosurgical Dept., Royal Hallamshire Hospital, Sheffield (United Kingdom); Norfolk, D. [Haematology Department, Leeds General Infirmary, Leeds LS1 3EX (United Kingdom); Smith, C. [Pathology Dept., Royal Hallamshire Hospital, Sheffield (United Kingdom)

    2001-06-01

    Granulocytic sarcoma is an extramedullary solid tumour consisting of myelogenous leukaemic blast cells, usually seen in acute myeloid leukaemia and less commonly in patients with chronic myeloid leukaemia or myeloproliferative disorders. Blast cells have a predilection for periosteal and perineural regions and rarely precede evidence of systemic disease. We present two patients, aleukaemic on peripheral blood counts, both at presentation and during subsequent treatment. We present the MRI features of this rare but important condition. (orig.)

  5. Blended interventions to change behavior in patients with chronic somatic disorders : Systematic review

    NARCIS (Netherlands)

    Kloek, C.J.J.; Bossen, D.; de Bakker, D.H.; Veenhof, C.; Dekker, J.

    2017-01-01

    Blended behavior change interventions combine therapeutic guidance with online care. This new way of delivering health care is supposed to stimulate patients with chronic somatic disorders in taking an active role in their disease management. However, knowledge about the effectiveness of blended

  6. Blended interventions to change behavior in patients with Chronic somatic disorders : Systematic review

    NARCIS (Netherlands)

    Kloek, Corelien; Bossen, Daniël; Bakker, Dinny H.De; Veenhof, Cindy; Dekker, Joost

    2017-01-01

    Background: Blended behavior change interventions combine therapeutic guidance with online care. This new way of delivering health care is supposed to stimulate patients with chronic somatic disorders in taking an active role in their disease management. However, knowledge about the effectiveness of

  7. Blended Interventions to Change Behavior in Patients With Chronic Somatic Disorders: Systematic Review

    NARCIS (Netherlands)

    Kloek, Corelien; Bossen, Daniel; de Bakker, Dinny H.; Veenhof, Cindy; Dekker, Joost

    2017-01-01

    Background: Blended behavior change interventions combine therapeutic guidance with online care. This new way of delivering health care is supposed to stimulate patients with chronic somatic disorders in taking an active role in their disease management. However, knowledge about the effectiveness of

  8. Comparison Between Chronic Migraine and Temporomandibular Disorders in Pain-Related Disability and Fear-Avoidance Behaviors.

    Science.gov (United States)

    Gil-Martínez, Alfonso; Navarro-Fernández, Gonzalo; Mangas-Guijarro, María Ángeles; Lara-Lara, Manuel; López-López, Almudena; Fernández-Carnero, Josué; La Touche, Roy

    2017-11-01

    To compare patients with chronic migraine (CM) and chronic temporomandibular disorders (TMD) on disability, pain, and fear avoidance factors and to associate these variables within groups. Descriptive, cross-sectional study. A neurology department and a temporomandibular disorders consult in a tertiary care center. A total of 50 patients with CM and 51 patients with chronic TMD, classified by international criteria classifications. The variables evaluated included pain intensity (visual analog scale [VAS]), neck disability (NDI), craniofacial pain and disability (CF-PDI), headache impact (HIT-6), pain catastrophizing (PCS), and kinesiophobia (TSK-11). Statistically significant differences were found between the CM group and the chronic TMD group in CF-PDI (P  0.05). For the chronic TMD group, the combination of NDI and TSK-11 was a significant covariate model of CF-PDI (adjusted R2 = 0.34). In the CM group, the regression model showed that NDI was a significant predictive factor for HIT-6 (adjusted R2 = 0.19). Differences between the CM group and the chronic TMD group were found in craniofacial pain and disability, pain catastrophizing, and headache impact, but they were similar for pain intensity, neck disability, and kinesiophobia. Neck disability and kinesiophobia were covariates of craniofacial pain and disability (34% of variance) for chronic TMD. In the CM group, neck disability was a predictive factor for headache impact (19.3% of variance). © 2017 American Academy of Pain Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  9. Diagnosis, prevention, and management of bleeding episodes in Philadelphia-negative myeloproliferative neoplasms: recommendations by the Hemostasis Working Party of the German Society of Hematology and Medical Oncology (DGHO) and the Society of Thrombosis and Hemostasis Research (GTH).

    Science.gov (United States)

    Appelmann, Iris; Kreher, Stephan; Parmentier, Stefani; Wolf, Hans-Heinrich; Bisping, Guido; Kirschner, Martin; Bergmann, Frauke; Schilling, Kristina; Brümmendorf, Tim H; Petrides, Petro E; Tiede, Andreas; Matzdorff, Axel; Griesshammer, Martin; Riess, Hanno; Koschmieder, Steffen

    2016-04-01

    Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPN) comprise a heterogeneous group of chronic hematologic malignancies. The quality of life, morbidity, and mortality of patients with MPN are primarily affected by disease-related symptoms, thromboembolic and hemorrhagic complications, and progression to myelofibrosis and acute leukemia. Major bleeding represents a common and important complication in MPN, and the incidence of such bleeding events will become even more relevant in the future due to the increasing disease prevalence and survival of MPN patients. This review discusses the causes, differential diagnoses, prevention, and management of bleeding episodes in patients with MPN, aiming at defining updated standards of care in these often challenging situations.

  10. Chronic alcoholism-mediated metabolic disorders in albino rat testes.

    Science.gov (United States)

    Shayakhmetova, Ganna M; Bondarenko, Larysa B; Matvienko, Anatoliy V; Kovalenko, Valentina M

    2014-09-01

    There is good evidence for impairment of spermatogenesis and reductions in sperm counts and testosterone levels in chronic alcoholics. The mechanisms for these effects have not yet been studied in detail. The consequences of chronic alcohol consumption on the structure and/or metabolism of testis cell macromolecules require to be intensively investigated. The present work reports the effects of chronic alcoholism on contents of free amino acids, levels of cytochrome P450 3A2 (CYP3A2) mRNA expression and DNA fragmentation, as well as on contents of different cholesterol fractions and protein thiol groups in rat testes. Wistar albino male rats were divided into two groups: I - control (intact animals), II - chronic alcoholism (15% ethanol self-administration during 150 days). Following 150 days of alcohol consumption, testicular free amino acid content was found to be significantly changed as compared with control. The most profound changes were registered for contents of lysine (-53%) and methionine (+133%). The intensity of DNA fragmentation in alcohol-treated rat testes was considerably increased, on the contrary CYP3A2 mRNA expression in testis cells was inhibited, testicular contents of total and etherified cholesterol increased by 25% and 45% respectively, and protein SH-groups decreased by 13%. Multidirectional changes of the activities of testicular dehydrogenases were detected. We thus obtained complex assessment of chronic alcoholism effects in male gonads, affecting especially amino acid, protein, ATP and NADPH metabolism. Our results demonstrated profound changes in testes on the level of proteome and genome. We suggest that the revealed metabolic disorders can have negative implication on cellular regulation of spermatogenesis under long-term ethanol exposure.

  11. MPLW515L mutation in acute megakaryoblastic leukaemia.

    Science.gov (United States)

    Hussein, K; Bock, O; Theophile, K; Schulz-Bischof, K; Porwit, A; Schlue, J; Jonigk, D; Kreipe, H

    2009-05-01

    The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in approximately 5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative neoplasm). A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing. In three cases (25%), MPL(W515L) was found and in two of these a combination with trisomy 21 or the Philadelphia chromosome occurred. None of the secondary AML cases evolving from pre-existing PMF showed MPL(W515K/L) (n=4). We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.

  12. Mutations with epigenetic effects in myeloproliferative neoplasms and recent progress in treatment: Proceedings from the 5th International Post-ASH Symposium

    International Nuclear Information System (INIS)

    Tefferi, A; Abdel-Wahab, O; Cervantes, F; Crispino, J D; Finazzi, G; Girodon, F; Gisslinger, H; Gotlib, J; Kiladjian, J-J; Levine, R L; Licht, J D; Mullally, A; Odenike, O; Pardanani, A; Silver, R T; Solary, E; Mughal, T

    2011-01-01

    Immediately following the 2010 annual American Society of Hematology (ASH) meeting, the 5th International Post-ASH Symposium on Chronic Myelogenous Leukemia and BCR-ABL1-Negative Myeloproliferative Neoplasms (MPNs) took place on 7–8 December 2010 in Orlando, Florida, USA. During this meeting, the most recent advances in laboratory research and clinical practice, including those that were presented at the 2010 ASH meeting, were discussed among recognized authorities in the field. The current paper summarizes the proceedings of this meeting in BCR-ABL1-negative MPN. We provide a detailed overview of new mutations with putative epigenetic effects (TET oncogene family member 2 (TET2), additional sex comb-like 1 (ASXL1), isocitrate dehydrogenase (IDH) and enhancer of zeste homolog 2 (EZH2)) and an update on treatment with Janus kinase (JAK) inhibitors, pomalidomide, everolimus, interferon-α, midostaurin and cladribine. In addition, the new ‘Dynamic International Prognostic Scoring System (DIPSS)-plus' prognostic model for primary myelofibrosis (PMF) and the clinical relevance of distinguishing essential thrombocythemia from prefibrotic PMF are discussed

  13. Mutations with epigenetic effects in myeloproliferative neoplasms and recent progress in treatment: Proceedings from the 5th International Post-ASH Symposium

    Energy Technology Data Exchange (ETDEWEB)

    Tefferi, A [Division of Hematology, Department of Medicine, Rochester, MN (United States); Abdel-Wahab, O [Department of Medicine, Human Oncology and Pathogenesis Program and Leukemia Service, Memorial Sloan-Kettering Cancer Center, New York, NY (United States); Cervantes, F [Hematology Department, Hospital Clínic, Institut d' Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Barcelona (Spain); Crispino, J D [Department of Hematology, Northwestern University, Chicago, IL (United States); Finazzi, G [Hematology Department of Ospedali Riuniti di Bergamo, Bergamo (Italy); Girodon, F [Laboratoire d' Hématologie, Hôpital du Bocage, Dijon (France); Gisslinger, H [Division of Hematology and Blood Coagulation, Department of Internal Medicine I, Medical University of Vienna, Vienna (Austria); Gotlib, J [Division of Hematology, Stanford University School of Medicine, Stanford, CA (United States); Kiladjian, J-J [Centre d' Investigations Cliniques 9504, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, Université Paris 7, Paris (France); Levine, R L [Department of Medicine, Human Oncology and Pathogenesis Program and Leukemia Service, Memorial Sloan-Kettering Cancer Center, New York, NY (United States); Licht, J D [Department of Hematology, Northwestern University, Chicago, IL (United States); Mullally, A [Division of Hematology, Department of Medicine, Brigham and Women' s Hospital, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA (United States); Odenike, O [Section of Hematology and Oncology, University of Chicago, Chicago, IL (United States); Pardanani, A [Division of Hematology, Department of Medicine, Rochester, MN (United States); Silver, R T [Division of Hematology and Medical Oncology, Department of Medicine, Weill Medical College of Cornell University, New York, NY (United States); Solary, E [Inserm U1009, Institut Gustave Roussy, Université Paris XI, Villejuif (France); Mughal, T [Department of Haematology, Guys Hospital Medical School, London (United Kingdom); Division of Hematology, Department of Medicine, Rochester, MN (United States)

    2011-03-01

    Immediately following the 2010 annual American Society of Hematology (ASH) meeting, the 5th International Post-ASH Symposium on Chronic Myelogenous Leukemia and BCR-ABL1-Negative Myeloproliferative Neoplasms (MPNs) took place on 7–8 December 2010 in Orlando, Florida, USA. During this meeting, the most recent advances in laboratory research and clinical practice, including those that were presented at the 2010 ASH meeting, were discussed among recognized authorities in the field. The current paper summarizes the proceedings of this meeting in BCR-ABL1-negative MPN. We provide a detailed overview of new mutations with putative epigenetic effects (TET oncogene family member 2 (TET2), additional sex comb-like 1 (ASXL1), isocitrate dehydrogenase (IDH) and enhancer of zeste homolog 2 (EZH2)) and an update on treatment with Janus kinase (JAK) inhibitors, pomalidomide, everolimus, interferon-α, midostaurin and cladribine. In addition, the new ‘Dynamic International Prognostic Scoring System (DIPSS)-plus' prognostic model for primary myelofibrosis (PMF) and the clinical relevance of distinguishing essential thrombocythemia from prefibrotic PMF are discussed.

  14. The Jak2 Inhibitor, G6, Alleviates Jak2-V617F–Mediated Myeloproliferative Neoplasia by Providing Significant Therapeutic Efficacy to the Bone Marrow

    Directory of Open Access Journals (Sweden)

    Annet Kirabo

    2011-11-01

    Full Text Available We recently developed a Janus kinase 2 (Jak2 small-molecule inhibitor called G6 and found that it inhibits Jak2-V617F– mediated pathologic cell growth in vitro, ex vivo, and in vivo. However, its ability to inhibit Jak2-V617F–mediated myeloproliferative neoplasia, with particular emphasis in the bone marrow, has not previously been examined. Here, we investigated the efficacy of G6 in a transgenic mouse model of Jak2-V617F–mediated myeloproliferative neoplasia. We found that G6 provided therapeutic benefit to the peripheral blood as determined by elimination of leukocytosis, thrombocytosis, and erythrocytosis. G6 normalized the pathologically high plasma concentrations of interleukin 6 (IL-6. In the liver, G6 eliminated Jak2-V617F–driven extramedullary hematopoiesis. With respect to the spleen, G6 significantly reduced both the spleno-megaly and megakaryocytic hyperplasia. In the critically important bone marrow, G6 normalized the pathologically high levels of phospho-Jak2 and phospho–signal transducer and activator of transcription 5 (STAT5. It significantly reduced the megakaryocytic hyperplasia in the marrow and completely normalized the M/E ratio. Most importantly, G6 selectively reduced the mutant Jak2 burden by 67% on average, with virtual elimination of mutant Jak2 cells in one third of all treated mice. Lastly, clonogenic assays using marrow stem cells from the myeloproliferative neoplasm mice revealed a time-dependent elimination of the clonogenic growth potential of these cells by G6. Collectively, these data indicate that G6 exhibits exceptional efficacy in the peripheral blood, liver, spleen, and, most importantly, in the bone marrow, thereby raising the possibility that this compound may alter the natural history of Jak2-V617F–mediated myeloproliferative neoplasia.

  15. Oxidative Stress and Mitochondrial Injury in Chronic Multisymptom Conditions: From Gulf War Illness to Autism Spectrum Disorder

    OpenAIRE

    Beatrice A. Golomb

    2012-01-01

    Background: Overlapping chronic multisymptom illnesses (CMI) include Chronic Fatigue Syndrome (CFS), fibromyalgia, irritable bowel syndrome, multiple chemical sensitivity, and Gulf War illness (GWI), and subsets of autism spectrum disorder (ASD). GWI entails a more circumscribed set of experiences that may provide insights of relevance to overlapping conditions.

  16. Methylphenidate and comorbid anxiety disorder in children with both chronic multiple tic disorder and ADHD.

    Science.gov (United States)

    Gadow, Kenneth D; Nolan, Edith E

    2011-04-01

    To determine if comorbid anxiety disorder is associated with differential response to immediate release methylphenidate (MPH-IR) in children with both ADHD and chronic multiple tic disorder (CMTD). Children with (n = 17) and without (n = 37) diagnosed anxiety disorder (ANX) were evaluated in an 8-week, placebo-controlled trial with rating scales and laboratory measures. The +ANX group obtained more severe parent, teacher, and child ratings of anxiety and more severe parent ratings of depression, tics, oppositional defiant disorder (ODD), and peer aggression than the -ANX group. Treatment with short-term MPH-IR was associated with improvement in ADHD, ODD, and peer aggression in the +ANX group. When controlling for ODD severity, there were no apparent group differences in therapeutic response to MPH-IR in children ±ANX. There was little evidence that MPH-IR contributed to improvement in anxiety or depression symptoms in the +ANX group. There was some indication that children with comorbid anxiety may differentially experience greater increase in systolic blood pressure (0.5 mg/kg of MPH-IR > placebo). Findings suggest that the co-occurrence of diagnosed CMTD+ADHD+ANX represents a particularly troublesome clinical phenotype, at least in the home setting. Comorbid anxiety disorder was not associated with a less favorable response to MPH-IR in children with ADHD+CMTD, but replication with larger samples is warranted before firm conclusions can be drawn about potential group differences.

  17. Symptom Differences in Acute and Chronic Presentation of Childhood Post-Traumatic Stress Disorder.

    Science.gov (United States)

    Famularo, Richard; And Others

    1990-01-01

    Twenty-four child abuse victims, age 5-13, were diagnosed with posttraumatic stress disorder (PTSD). Children with the acute form of PTSD exhibited such symptoms as difficulty falling asleep, hypervigilance, nightmares, and generalized anxiety. Children exhibiting chronic PTSD exhibited increased detachment, restricted range of affect,…

  18. The promise of telemedicine for chronic neurological disorders: the example of Parkinson's disease.

    Science.gov (United States)

    Schneider, Ruth B; Biglan, Kevin M

    2017-07-01

    Disparities in access to health care, particularly specialist care, exist worldwide. As the prevalence of chronic neurological disorders increases with ageing populations, access to neurologist care is likely to worsen in many regions if there are no changes to models of care. Telemedicine-defined here as the use of real-time, synchronous videoconferencing to deliver medical care-could be used to improve access to neurologist care for patients with a range of chronic neurological disorders. In Parkinson's disease, several studies have shown the feasibility and potential benefits of telemedicine-delivered care. Further research is needed to establish whether telemedicine can deliver on the promise of improved access to neurologist care and whether telemedicine-delivered care is comparable to in-person care in terms of clinical outcomes. Many barriers to widespread implementation of telemedicine services remain to be addressed, including reimbursement, legal considerations, and technological issues. Copyright © 2017 Elsevier Ltd. All rights reserved.

  19. Impact of Chronic Diseases and Multimorbidity on Health and Health Care Costs: The Additional Role of Musculoskeletal Disorders

    NARCIS (Netherlands)

    Zee-Neuen, A. van der; Putrik, P.; Ramiro, S.; Keszei, A.; Bie, R. de; Chorus, A.; Boonen, A.

    2016-01-01

    Objective: Chronic diseases are increasingly prevalent and often occur as multimorbidity. This study compares the impact of musculoskeletal disorders (MSKDs) on health and health care costs with other chronic diseases, and assesses the additional impact of MSKDs on these outcomes when occurring as

  20. Trauma and posttraumatic stress disorder in women with chronic pelvic pain.

    Science.gov (United States)

    Meltzer-Brody, Samantha; Leserman, Jane; Zolnoun, Denniz; Steege, John; Green, Emily; Teich, Alice

    2007-04-01

    To examine the effect of abuse history, other major trauma, and posttraumatic stress disorder (PTSD) on medical symptoms and health-related daily functioning in women with chronic pelvic pain. We administered a questionnaire to 713 consecutive women seen in a referral-based pelvic pain clinic. We found that 46.8% reported having either a sexual or physical abuse history. A total of 31.3% had a positive screen for PTSD. Using regression and path analysis, controlling for demographic variables, we found that a trauma history was associated with worse daily physical functioning due to poor health (Pscreen for PTSD was highly related to most measures of poor health status (Pscreening for trauma and PTSD in women with chronic pelvic pain. II.

  1. Factors associated with work ability in patients with chronic whiplash-associated disorder grade II-III: A cross-sectional analysis.

    Science.gov (United States)

    Agnew, Louise; Johnston, Venerina; Landén Ludvigsson, Maria; Peterson, Gunnel; Overmeer, Thomas; Johansson, Gun; Peolsson, Anneli

    2015-06-01

    To investigate the factors related to self-perceived work ability in patients with chronic whiplash-associated disorder grades II-III. Cross-sectional analysis. A total of 166 working age patients with chronic whiplash-associated disorder. A comprehensive survey collected data on work ability (using the Work Ability Index); demographic, psychosocial, personal, work- and condition-related factors. Forward, stepwise regression modelling was used to assess the factors related to work ability. The proportion of patients in each work ability category were as follows: poor (12.7%); moderate (39.8%); good (38.5%); excellent (9%). Seven factors explained 65% (adjusted R2 = 0.65, p whiplash-associated disorder.

  2. The Kidney-Vascular-Bone Axis in the Chronic Kidney Disease-Mineral Bone Disorder.

    Science.gov (United States)

    Seifert, Michael E; Hruska, Keith A

    2016-03-01

    The last 25 years have been characterized by dramatic improvements in short-term patient and allograft survival after kidney transplantation. Long-term patient and allograft survival remains limited by cardiovascular disease and chronic allograft injury, among other factors. Cardiovascular disease remains a significant contributor to mortality in native chronic kidney disease as well as cardiovascular mortality in chronic kidney disease more than doubles that of the general population. The chronic kidney disease (CKD)-mineral bone disorder (MBD) is a syndrome recently coined to embody the biochemical, skeletal, and cardiovascular pathophysiology that results from disrupting the complex systems biology between the kidney, skeleton, and cardiovascular system in native and transplant kidney disease. The CKD-MBD is a unique kidney disease-specific syndrome containing novel cardiovascular risk factors, with an impact reaching far beyond traditional notions of renal osteodystrophy and hyperparathyroidism. This overview reviews current knowledge of the pathophysiology of the CKD-MBD, including emerging concepts surrounding the importance of circulating pathogenic factors released from the injured kidney that directly cause cardiovascular disease in native and transplant chronic kidney disease, with potential application to mechanisms of chronic allograft injury and vasculopathy.

  3. Circulating Omentin-1 and Chronic Painful Temporomandibular Disorders.

    Science.gov (United States)

    Harmon, Jennifer B; Sanders, Anne E; Wilder, Rebecca S; Essick, Greg K; Slade, Gary D; Hartung, Jane E; Nackley, Andrea G

    To investigate the relationship between omentin-1 levels and painful temporomandibular disorders (TMD). In a case-control design, chronic painful TMD cases (n = 90) and TMD-free controls (n = 54) were selected from participants in the multisite OPPERA study (Orofacial Pain: Prospective Evaluation and Risk Assessment). Painful TMD case status was determined by examination using established Research Diagnostic Criteria for TMD (RDC/TMD). Levels of omentin-1 in stored blood plasma samples were measured by using an enzyme linked immunosorbent assay. Binary logistic regression was used to calculate the odds ratios (ORs) and 95% confidence limits (CLs) for the association between omentin-1 and painful TMD. Models were adjusted for study site, age, sex, and body mass index. The unadjusted association between omentin-1 and chronic painful TMD was statistically nonsignificant (P = .072). Following adjustment for covariates, odds of TMD pain decreased 36% per standard deviation increase in circulating omentin-1 (adjusted OR = 0.64; 95% CL: 0.43, 0.96; P = .031). Circulating levels of omentin-1 were significantly lower in painful TMD cases than controls, suggesting that TMD pain is mediated by inflammatory pathways.

  4. A Preliminary Investigation of Associations between Disorders of Behavior and Language in Children with Chronic Otitis Media.

    Science.gov (United States)

    Funk, Jeanne B.; Ruppert, Elizabeth S.

    1986-01-01

    The relationship between language and behavior disorders was investigated. The teacher and parents of 12 children in a special public preschool for children with documented chronic otitis media and language disorders completed the Louisville Behavior Checklist. Most deviant behavior was reported on scales measuring cognitive and social-interactive…

  5. Chronic daily headaches

    Directory of Open Access Journals (Sweden)

    Fayyaz Ahmed

    2012-01-01

    Full Text Available Chronic Daily Headache is a descriptive term that includes disorders with headaches on more days than not and affects 4% of the general population. The condition has a debilitating effect on individuals and society through direct cost to healthcare and indirectly to the economy in general. To successfully manage chronic daily headache syndromes it is important to exclude secondary causes with comprehensive history and relevant investigations; identify risk factors that predict its development and recognise its sub-types to appropriately manage the condition. Chronic migraine, chronic tension-type headache, new daily persistent headache and medication overuse headache accounts for the vast majority of chronic daily headaches. The scope of this article is to review the primary headache disorders. Secondary headaches are not discussed except medication overuse headache that often accompanies primary headache disorders. The article critically reviews the literature on the current understanding of daily headache disorders focusing in particular on recent developments in the treatment of frequent headaches.

  6. Locally disordered methylation forms the basis of intratumor methylome variation in chronic lymphocytic leukemia.

    Science.gov (United States)

    Landau, Dan A; Clement, Kendell; Ziller, Michael J; Boyle, Patrick; Fan, Jean; Gu, Hongcang; Stevenson, Kristen; Sougnez, Carrie; Wang, Lili; Li, Shuqiang; Kotliar, Dylan; Zhang, Wandi; Ghandi, Mahmoud; Garraway, Levi; Fernandes, Stacey M; Livak, Kenneth J; Gabriel, Stacey; Gnirke, Andreas; Lander, Eric S; Brown, Jennifer R; Neuberg, Donna; Kharchenko, Peter V; Hacohen, Nir; Getz, Gad; Meissner, Alexander; Wu, Catherine J

    2014-12-08

    Intratumoral heterogeneity plays a critical role in tumor evolution. To define the contribution of DNA methylation to heterogeneity within tumors, we performed genome-scale bisulfite sequencing of 104 primary chronic lymphocytic leukemias (CLLs). Compared with 26 normal B cell samples, CLLs consistently displayed higher intrasample variability of DNA methylation patterns across the genome, which appears to arise from stochastically disordered methylation in malignant cells. Transcriptome analysis of bulk and single CLL cells revealed that methylation disorder was linked to low-level expression. Disordered methylation was further associated with adverse clinical outcome. We therefore propose that disordered methylation plays a similar role to that of genetic instability, enhancing the ability of cancer cells to search for superior evolutionary trajectories. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. Laboratory diagnosis of chronic myelomonocytic leukemia and progression to acute leukemia in association with chronic lymphocytic leukemia: morphological features and immunophenotypic profile Diagnóstico laboratorial de leucemia mielomonocítica crônica agudizada em associação com leucemia linfocítica crônica: aspectos morfológicos e imunofenotípicos

    Directory of Open Access Journals (Sweden)

    Iris Mattos Santos

    2012-01-01

    Full Text Available Chronic myelomonocytic leukemia is a clonal stem cell disorder that is characterized mainly by absolute peripheral monocytosis. This disease can present myeloproliferative and myelodysplastic characteristics. According to the classification established by the World Health Organization, chronic myelomonocytic leukemia is inserted in a group of myeloproliferative/myelodysplastic disorders; its diagnosis requires the presence of persistent monocytosis and dysplasia involving one or more myeloid cell lineages. Furthermore, there should be an absence of the Philadelphia chromosome and the BCR/ABL fusion gene and less than 20% blasts in the blood or bone marrow. Phenotypically, the cells in chronic myelomonocytic leukemia can present myelomonocytic antigens, such as CD33 and CD13, overexpressions of CD56 and CD2 and variable expressions of HLA-DR, CD36, CD14, CD15, CD68 and CD64. The increase in the CD34 expression may be associated with a transformation into acute leukemia. Cytogenetic alterations are frequent in chronic myelomonocytic leukemia, and molecular mutations such as NRAS have been identified. The present article reports on a case of chronic myelomonocytic leukemia, diagnosed by morphologic and phenotypical findings that, despite having been suggestive of acute monocytic leukemia, were differentiated through a detailed analysis of cell morphology. Furthermore, typical cells of chronic lymphocytic leukemia were found, making this a rare finding.A Leucemia Mielomonocítica Crônica (LMMC é uma desordem clonal de células-tronco hematopoiéticas caracterizada principalmente por monocitose absoluta no sangue periférico. Esta doença pode apresentar características de síndromes mielodisplásicas e de doenças mieloproliferativas. De acordo com a classificação estabelecida pela OMS, a LMMC está inserida no grupo de neoplasias mieloproliferativas/mielodisplásicas e seu diagnóstico requer a presença de monocitose persistente no sangue

  8. Diagnostic agreement of schizophrenia spectrum disorders among chronic patients with functional psychoses

    DEFF Research Database (Denmark)

    Jakobsen, K D; Frederiksen, J N; Parnas, J

    2006-01-01

    of 100 individuals (35 women and 65 men) were randomly sampled and assessed using the Operational Criteria Checklist for Psychotic Illness and Affective Illness (OPCRIT). Based on the OPCRIT diagnoses the subjects suffering from schizophrenia and schizophrenia spectrum disorders according to seven...... function previous to the onset of illness. Similarly high pairwise CR were observed for schizophrenia spectrum disorders across all diagnostic systems. CONCLUSIONS: This study demonstrates that diagnostic agreement is higher among chronic patients than that observed in subjects with a recent onset...... serious epistemological consequences, thus underlining the conventional nature of the present schizophrenia diagnoses and the need for biologically founded diagnostic criteria....

  9. Disseminated neurocysticercosis presenting as affective mood disorder with chronic tension type headache

    Directory of Open Access Journals (Sweden)

    Krishnarpan Chatterjee

    2013-01-01

    Full Text Available Neurocysticercosis is a common parasitic infection in India presenting usually with seizues, headache, focal neurological deficits. Neurocysticercosis presenting as a psychiatric illness is rare. Disseminated cysticercosis with involvement of central nervous system and head and neck muscles is rare even in endemic areas. We present a case of disseminated cysticercosis, which presented with chronic tension type headache and affective mood disorder. Treatment with cysticidal drugs led to complete remission of psychiatric complaints. In endemic areas history suggestive of mood disorder should not be used as supportive evidence of a primary headache syndome like tension type headche without ruling out secondary causes. Making an early diagnosis can prevent morbidity.

  10. Calreticulin Mutations in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Noa Lavi

    2014-10-01

    Full Text Available With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph− myeloproliferative neoplasms (MPNs in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations exist in approximately one-third of patients with non-mutated JAK2 or MPL essential thrombocythemia (ET and primary myelofibrosis (PMF. At the end of 2013, two studies identified recurrent mutations in the gene encoding calreticulin (CALR using whole-exome sequencing. These mutations were revealed in the majority of ET and PMF patients with non-mutated JAK2 or MPL but not in polycythemia vera patients. Somatic 52-bp deletions (type 1 mutations and recurrent 5-bp insertions (type 2 mutations in exon 9 of the CALR gene (the last exon encoding the C-terminal amino acids of the protein calreticulin were detected and found always to generate frameshift mutations. All detected mutant calreticulin proteins shared a novel amino acid sequence at the C-terminal. Mutations in CALR are acquired early in the clonal history of the disease, and they cause activation of JAK/STAT signaling. The CALR mutations are the second most frequent mutations in Ph− MPN patients after the JAK2V617F mutation, and their detection has significantly improved the diagnostic approach for ET and PMF. The characteristics of the CALR mutations as well as their diagnostic, clinical, and pathogenesis implications are discussed in this review.

  11. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.

    Science.gov (United States)

    Yagasaki, Hideaki; Nakane, Takaya; Hasebe, Youhei; Watanabe, Atsushi; Kise, Hiroaki; Toda, Takako; Koizumi, Keiichi; Hoshiai, Minako; Sugita, Kanji

    2015-12-01

    Most cases of Noonan syndrome (NS) result from mutations in one of the RAS-MAPK signaling genes, including PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 (MAP2K1), and CBL. Cardiovascular diseases of varying severity, such as pulmonary stenosis and hypertrophic cardiomyopathy (HCM), are common in NS patients. RAF1 mutations are most frequent in NS with HCM, while PTPN11 mutations are also well known. Thr73Ile is a gain-of-function mutation of PTPN11, which has been highly associated with juvenile myelomonocytic leukemia and NS/myeloproliferative disease (MPD), but has not previously been reported in HCM. Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM. No other HCM-related mutations were detected in PTPN11, RAF1, KRAS, BRAF, and SHOC2. This patient provides additional information regarding the genotype-phenotype correlation for PTPN11 T73I mutation in NS. © 2015 Wiley Periodicals, Inc.

  12. Neurobiological and clinical relationship between psychiatric disorders and chronic pain.

    Science.gov (United States)

    Bras, Marijana; Dordević, Veljko; Gregurek, Rudolf; Bulajić, Masa

    2010-06-01

    Pain is one of the most ubiquitous problems of today's world, its impact being far-reaching. Current conceptualizations of pain medicine adopt a bio-psycho-social perspective. In this model, pain is best described as an interactive, psycho-physiological behavioral pattern that cannot be divided into independent psycho-social and physical components. Neurophysiologic substrates of the pain experience can be broken down into the pain transmission elements emanating from peripheral, spinal, and supra-spinal processes. There are many complex mechanisms involved in pain processing within the central nervous system, being influenced by genetics, interaction of neurotransmitters and their receptors, and pain- augmenting and pain-inhibiting neural circuits. The patient's emotional experiences, beliefs and expectations may determine the outcome of treatment, and are fully emphasized in the focus of treatment interventions. There are several common psychiatric disorders accompanying and complicating the experience of pain that warrant clinical attention and that can be the focus of psychiatric treatment. These include depression, anxiety, sleep disorders, somatoform disorders, substance-related disorders and personality disorders. Complex and disabling pain conditions often require comprehensive pain treatment programs, involving interdisciplinary and multimodal treatment approaches. There are many roles that the psychiatrist can perform in the assessment and treatment of the patients with pain, individually tailored to meet the specific needs of the patient. Rational poly-pharmacy is of a high importance in the treatment of patients with chronic pain, with antidepressants and anticonvulsants contributing as the important adjuvant analgesic agents.

  13. Antecedent cardiovascular disease and autoimmunity in Philadelphia-negative chronic myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Sørensen, Anders Lindholm; Hasselbalch, Hans K

    2016-01-01

    leukemia (CLL) patients. Odds ratios (ORs) and p-values using Fischer's exact tests were calculated. The data was adjusted for confounding effects by logistic regression. Results: A significantly increased risk of MPNs compared to CLL was observed in subjects with a prior history of any autoimmune disease...... (OR = 1.86, 95%CI 1.16-2.98). A positive association between JAK2-V617F positive MPN and any autoimmune disease was observed at follow-up (OR = 2.62, 95% CI 1.21-5.67). A significantly increased risk of MPN compared to CLL was also observed in subjects with prior thromboembolic events (TE-events) (OR...... in the hematopoietic stem cell resulting in MPNs, or whether this association actually reflects a long-lasting pre-MPN-diagnosis phase, in which the MPN-disease per se contributes to a chronic inflammatory state and immune deregulation....

  14. DNA Methylation as an Epigenetic Factor in the Development and Progression of Polycythemia Vera

    Science.gov (United States)

    2009-06-01

    Pathol Biol ( Paris ). 2001;49:164-166. 2. Spivak JL. Diagnosis of the myeloproliferative disorders: resolving phenotypic mimicry. Semin Hematol...TX, USA; 9 Laboratoire d’Hématologie, Hôpital Saint-Antoine, Paris , France; 10 Department of Hematology, University of Pavia & Fondazione IRCCS...CHU, Brest , France and 15 Laboratoire d’Hématologie, CHU, Nantes, France. Studies of myeloproliferative disorders (MPDs) aiming to evaluate the

  15. Differences in {sup 99m}Tc-HMPAO brain SPET perfusion imaging between Tourette's syndrome and chronic tic disorder in children

    Energy Technology Data Exchange (ETDEWEB)

    Chiu, N.-T.; Lee, B.-F. [Dept. of Nuclear Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan (Taiwan); Chang, Y.-C. [Dept. of Pediatrics, Kaohsiung Chang Kang Children' s Hospital, Kaohsiung, Taiwan (Taiwan); Huang, C.-C. [Dept. of Pediatrics, College of Medicine, National Cheng Kung University, Tainan (Taiwan); Wang, S.-T. [Dept. of Public Health, College of Medicine, National Cheng Kung University, Tainan, Taiwan (Taiwan)

    2001-02-01

    Early differential diagnosis between Tourette's syndrome and chronic tic disorder is difficult but important because both the outcome and the treatment of these two childhood-onset diseases are distinct. We assessed the sensitivity and specificity of brain single-photon emission tomography (SPET) perfusion imaging in distinguishing the two diseases, and characterized their different cerebral perfusion patterns. Twenty-seven children with Tourette's syndrome and 11 with chronic tic disorder (mean age 9.5 and 8.6 years, respectively) underwent brain SPET with technetium-99m hexamethylpropylene amine oxime (HMPAO). Visual interpretation and semi-quantitative analysis of SPET images were performed. On visual interpretation, 22 of 27 (82%) of the Tourette's syndrome group had lesions characterized by decreased perfusion. The left hemisphere was more frequently involved. None of the children with chronic tic disorder had a visible abnormality. Semi-quantitative analysis showed that, compared with children with chronic tic disorder, children with Tourette's syndrome had significantly lower perfusion in the left lateral temporal area and asymmetric perfusion in the dorsolateral frontal, lateral and medial temporal areas. In conclusion, using the visual approach, brain SPET perfusion imaging is sensitive and specific in differentiating Tourette's syndrome and chronic tic disorder. The perfusion difference between the two groups, demonstrated by semi-quantitative analysis, may be related more to the co-morbidity in Tourette's syndrome than to tics per se. (orig.)

  16. Sleep disorders in chronic obstructive pulmonary disease: etiology, impact, and management.

    Science.gov (United States)

    Budhiraja, Rohit; Siddiqi, Tauseef A; Quan, Stuart F

    2015-03-15

    Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality and may frequently be complicated by sleep disorders. Insomnia and obstructive sleep apnea are commonly encountered in patients with COPD. Nocturnal hypoxemia is also prevalent in COPD may occur despite adequate awake oxygenation and can be especially severe in rapid eye movement sleep. Additionally, several factors--some of them unique to COPD--can contribute to sleep-related hypoventilation. Recognition of hypoventilation can be vital as supplemental oxygen therapy itself can acutely worsen hypoventilation and lead to disastrous consequences. Finally, accruing data establish an association between restless leg syndrome and COPD--an association that may be driven by hypoxemia and/or hypercapnia. Comorbid sleep disorders portend worse sleep quality, diminished quality of life, and multifarious other adverse consequences. The awareness and knowledge regarding sleep comorbidities in COPD has continued to evolve over past many years. There are still several lacunae, however, in our understanding of the etiologies, impact, and therapies of sleep disorders, specifically in patients with COPD. This review summarizes the latest concepts in prevalence, pathogenesis, diagnosis, and management of diverse sleep disorders in COPD. © 2015 American Academy of Sleep Medicine.

  17. Disordered APP metabolism and neurovasculature in trauma and aging: Combined risks for chronic neurodegenerative disorders.

    Science.gov (United States)

    Ikonomovic, Milos D; Mi, Zhiping; Abrahamson, Eric E

    2017-03-01

    Traumatic brain injury (TBI), advanced age, and cerebral vascular disease are factors conferring increased risk for late onset Alzheimer's disease (AD). These conditions are also related pathologically through multiple interacting mechanisms. The hallmark pathology of AD consists of pathological aggregates of amyloid-β (Aβ) peptides and tau proteins. These molecules are also involved in neuropathology of several other chronic neurodegenerative diseases, and are under intense investigation in the aftermath of TBI as potential contributors to the risk for developing AD and chronic traumatic encephalopathy (CTE). The pathology of TBI is complex and dependent on injury severity, age-at-injury, and length of time between injury and neuropathological evaluation. In addition, the mechanisms influencing pathology and recovery after TBI likely involve genetic/epigenetic factors as well as additional disorders or comorbid states related to age and central and peripheral vascular health. In this regard, dysfunction of the aging neurovascular system could be an important link between TBI and chronic neurodegenerative diseases, either as a precipitating event or related to accumulation of AD-like pathology which is amplified in the context of aging. Thus with advanced age and vascular dysfunction, TBI can trigger self-propagating cycles of neuronal injury, pathological protein aggregation, and synaptic loss resulting in chronic neurodegenerative disease. In this review we discuss evidence supporting TBI and aging as dual, interacting risk factors for AD, and the role of Aβ and cerebral vascular dysfunction in this relationship. Evidence is discussed that Aβ is involved in cyto- and synapto-toxicity after severe TBI, and that its chronic effects are potentiated by aging and impaired cerebral vascular function. From a therapeutic perspective, we emphasize that in the fields of TBI- and aging-related neurodegeneration protective strategies should include preservation of

  18. MMPI-2 F Scale as a Predictor of Acute Versus Chronic Disorder Classification

    Science.gov (United States)

    Cukrowicz, Kelly C.; Reardon, Maureen Lyons; Donohue, Keith F.; Joiner, Jr., Thomas E.

    2004-01-01

    This study examined the relation between elevation of the infrequency (F) scale on the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) and the classification of psychological disorders as chronic or acute in an outpatient mental health setting. MMPI-2 and clinician rating data at time of intake were considered for 158 adult patients from an…

  19. Quality of Life in Youth with Tourette's Syndrome and Chronic Tic Disorder

    Science.gov (United States)

    Storch, Eric A.; Merlo, Lisa J.; Lack, Caleb; Milsom, Vanessa A.; Geffken, Gary R.; Goodman, Wayne K.; Murphy, Tanya K.

    2007-01-01

    This study sought to examine quality of life (QoL) in clinic-referred children and adolescents (n = 59, M age = 11.4[plus or minus]2.6 years) with a chronic tic disorder. The QoL scores for tic patients were lower than for healthy controls but higher than for the psychiatric sample on the majority of domains. Children's self-reported QoL scores…

  20. Management of chronic kidney disease–mineral and bone disorder: Korean working group recommendations

    Directory of Open Access Journals (Sweden)

    Eunah Hwang

    2015-03-01

    Full Text Available For Korean dialysis patients, chronic kidney disease–mineral bone disorder is a serious burden because of cardiovascular calcification and mortality. However, recent epidemiologic data have demonstrated that many patients undergoing maintenance hemodialysis are out of the target ranges of serum calcium, phosphorus, and intact parathyroid hormone. Thus, we felt the necessity for the development of practical recommendations to treat abnormal serum phosphorus, calcium, and iPTH in dialysis patients. In this paper, we briefly comment on the measurement of serum calcium, phosphorus, iPTH, dialysate calcium concentration, dietary phosphorus restriction, use of phosphate binders, and medical and surgical options to correct secondary hyperparathyroidism. In particular, for the optimal management of secondary hyperparathyroidism, we suggest a simplified medication adjustment according to certain ranges of serum phosphorus and calcium. Large-scale, well-designed clinical studies are required to support our strategies to control chronic kidney disease–mineral bone disorder in this country. Based on such data, our practice guidelines could be established and better long-term outcomes should be anticipated in our dialysis patients.

  1. [Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia].

    Science.gov (United States)

    Senín, Alicia; Arenillas, Leonor; Martínez-Avilés, Luz; Fernández-Rodríguez, Concepción; Bellosillo, Beatriz; Florensa, Lourdes; Besses, Carles; Álvarez-Larrán, Alberto

    2015-06-08

    Atypical chronic myeloid leukemia (aCML) and chronic neutrophilic leukemia (CNL) display similar clinical and hematological characteristics. The objective of the present study was to determine the mutational status of SETBP1 and CSF3R in these diseases. The mutational status of SETBP1 and CSF3R was studied in 7 patients with aCML (n = 3), CNL (n = 1) and unclassifiable myeloproliferative neoplasms (MPN-u) (n = 3). Additionally, mutations in ASXL1, SRSF2, IDH1/2, DNMT3A, and RUNX1 were also analyzed. SETBP1 mutations (G870S and G872R) were detected in 2 patients with MPN-u, and one of them also presented mutations in SRSF2 (P95H) and ASXL1 (E635fs). The CNL case showed mutations in CSFR3 (T618I), SETBP1 (G870S) and SRSF2 (P95H). No patient classified as aCML had mutations in SETBP1 or CSF3R. One of the patients with mutations evolved to acute myeloid leukemia, while the other 2 had disease progression without transformation to overt leukemia. The knowledge of the molecular alterations involved in these rare diseases is useful in the diagnosis and may have an impact on both prognosis and therapy. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  2. Well sibling psychological adjustment to chronic physical disorder in a sibling: how important is maternal awareness of their illness attitudes and perceptions?

    Science.gov (United States)

    Taylor; Fuggle, P; Charman, T

    2001-10-01

    The psychological adjustment of healthy siblings was investigated in relation to their attitudes and perceptions about their brother's or sister's chronic physical disorder, to their mothers' awareness of these attitudes and perceptions, and to three other maternal factors (maternal distress, maternal social support, and amount of care demanded by the physical disorder). Sixty-two well siblings and mothers of children with a range of chronic physical disorders completed standardised questionnaires. The majority of siblings did not appear to have adjustment problems, although the sample had slightly increased rates of emotional symptoms compared to the general population. Mothers rated well siblings as having more negative attitudes and perceptions about the physical disorder than reported by siblings themselves. A multiple regression analysis indicated that better sibling adjustment was associated with higher maternal awareness of their attitudes and perceptions. These findings support Varni and Wallander's (1998) model that emphasises the role of relationship and attitude variables in child adjustment to chronic physical disorder. The implications of these findings for clinical practice are discussed.

  3. Treatments for chronic myeloid leukemia: a qualitative systematic review

    Directory of Open Access Journals (Sweden)

    Ferdin

    2012-08-01

    Full Text Available Roxanne Ferdinand,1 Stephen A Mitchell,2 Sarah Batson,2 Indra Tumur11Pfizer, Tadworth, UK; 2Abacus International, Bicester, UKBackground: Chronic myeloid leukemia (CML is a myeloproliferative disorder of blood stem cells. The tyrosine kinase inhibitor (TKI imatinib was the first targeted therapy licensed for patients with chronic-phase CML, and its introduction was associated with substantial improvements in response and survival compared with previous therapies. Clinical trial data are now available for the second-generation TKIs (nilotinib, dasatinib, and bosutinib in the first-, second-, and third-line settings. A qualitative systematic review was conducted to qualitatively compare the clinical effectiveness, safety, and effect on quality of life of TKIs for the management of chronic-, accelerated-, or blast-phase CML patients.Methods: Included studies were identified through a search of electronic databases in September 2011, relevant conference proceedings and the grey literature.Results: In the first-line setting, the long-term efficacy (up to 8 years of imatinib has been confirmed in a single randomized controlled trial (International Randomized Study of Interferon [IRIS]. All second-generation TKIs reported lower rates of transformation, and comparable or superior complete cytogenetic response (CCyR, major molecular response (MMR, and complete molecular response rates compared with imatinib by 2-year follow-up. Each of the second-generation TKIs was associated with a distinct adverse-event profile. Bosutinib was the only second-generation TKI to report quality-of-life data (no significant difference compared with imatinib treatment. Data in the second- and third-line setting confirmed the efficacy of the second-generation TKIs in either imatinib-resistant or -intolerant patients, as measured by CCyR and MMR rates.Conclusion: Data from first-line randomized controlled trials reporting up to 2-year follow-up indicate superior response

  4. Chasing down the triple-negative myeloproliferative neoplasms: Implications for molecular diagnostics.

    Science.gov (United States)

    Langabeer, Stephen E

    2016-01-01

    The majority of patients with classical myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia, and primary myelofibrosis harbor distinct disease-driving mutations within the JAK2 , CALR , or MPL genes. The term triple-negative has been recently applied to those MPN without evidence of these consistent mutations, prompting whole or targeted exome sequencing approaches to determine the driver mutational status of this subgroup. These strategies have identified numerous novel mutations that occur in alternative exons of both JAK2 and MPL , the majority of which result in functional activation. Current molecular diagnostic approaches may possess insufficient coverage to detect these alternative mutations, prompting further consideration of targeted exon sequencing into routine diagnostic practice. How to incorporate these illuminating findings into the expanding molecular diagnostic algorithm for MPN requires continual attention.

  5. Pre leukemic granulocytic sarcoma of vagina: a case report with review of literature

    International Nuclear Information System (INIS)

    Lakshminarasimhan, Srinivasan; Doval, D.C.; Rajashekhar, Usha; Mukherjee, Geethashree; Kannan, V.; Lakshmi Devi; Bapsy, P.P.

    1996-01-01

    Granulocytic sarcoma is an extramedullary tumor of malignant granulocytic progenitor cells, that may precede the onset of acute myeloid leukemia or appear during the leukemic manifestation or blastic crisis of chronic myeloproliferative disorders. A case of granulocytic sarcoma of vagina in a 27 year old woman treated with local radiotherapy is described. After seven months of follow up she developed acute myeloid leukemia. The case has been presented in view of its rarity and discussed in light of the available literature. (author). 13 refs., 1 fig

  6. Cervical Muscle Dysfunction in Chronic Whiplash-Associated Disorder Grade 2: The Relevance of the Trauma

    NARCIS (Netherlands)

    Nederhand, Marcus Johannes; Hermens, Hermanus J.; IJzerman, Maarten Joost; Turk, Dennis C.; Zilvold, Gerrit

    2002-01-01

    Study Design. Surface electromyography measurements of the upper trapezius muscles were performed in patients with a chronic whiplash-associated disorder Grade 2 and those with nonspecific neck pain. Objective. To determine the etiologic relation between acceleration–deceleration trauma and the

  7. Thalamus lesions in chronic and acute seizure disorders

    Energy Technology Data Exchange (ETDEWEB)

    Tschampa, Henriette J; Greschus, Susanne; Urbach, Horst [University of Bonn, Department of Radiology (Neuroradiology), Bonn (Germany); Sassen, Robert; Bien, Christian G [University of Bonn, Department of Epileptology, Bonn (Germany)

    2011-04-15

    Transient signal changes in the pulvinar have been described following status epilepticus. However, we observed persistent thalamus changes after seizures. The purpose of this study was to characterize thalamus changes in patients with seizure disorders and to correlate imaging findings with clinical features. We searched among 5,500 magnetic resonance imaging (MRI) exams performed in patients with seizures and identified 43 patients. The MRI scans of these patients were reviewed and correlated with clinical data. We identified four patterns of thalamus lesions: (a) fluid attenuated inversion recovery-hyperintense pulvinar lesions (20 patients), as known from status epilepticus. Ten patients in this group had a status epilepticus. Among the remaining patients, three had frequent seizures and seven had sporadic seizures. Twelve patients had follow-up exams for a median of 11 months. The lesions had persisted in 11/12 cases in the last available exam and were reversible in one case only. In seven cases, cone-shaped thalamus atrophy resulted, (b) linear defects in the medial and anterior thalamus (five patients), accompanied by atrophy of the mamillary body and the fornix in patients with chronic epilepsy, (c) extensive bilateral thalamus lesions in two patients with a syndrome caused by mutation in the mitochondrial polymerase gamma, and (d) other thalamus lesions not associated with the seizure disorder (16 patients). The spectrum of thalamus lesions in patients with seizure disorders is wider than previously reported. Postictal pulvinar lesions can persist and may result in thalamic atrophy. Linear defects in the anterior thalamus are associated with limbic system atrophy. (orig.)

  8. Thalamus lesions in chronic and acute seizure disorders

    International Nuclear Information System (INIS)

    Tschampa, Henriette J.; Greschus, Susanne; Urbach, Horst; Sassen, Robert; Bien, Christian G.

    2011-01-01

    Transient signal changes in the pulvinar have been described following status epilepticus. However, we observed persistent thalamus changes after seizures. The purpose of this study was to characterize thalamus changes in patients with seizure disorders and to correlate imaging findings with clinical features. We searched among 5,500 magnetic resonance imaging (MRI) exams performed in patients with seizures and identified 43 patients. The MRI scans of these patients were reviewed and correlated with clinical data. We identified four patterns of thalamus lesions: (a) fluid attenuated inversion recovery-hyperintense pulvinar lesions (20 patients), as known from status epilepticus. Ten patients in this group had a status epilepticus. Among the remaining patients, three had frequent seizures and seven had sporadic seizures. Twelve patients had follow-up exams for a median of 11 months. The lesions had persisted in 11/12 cases in the last available exam and were reversible in one case only. In seven cases, cone-shaped thalamus atrophy resulted, (b) linear defects in the medial and anterior thalamus (five patients), accompanied by atrophy of the mamillary body and the fornix in patients with chronic epilepsy, (c) extensive bilateral thalamus lesions in two patients with a syndrome caused by mutation in the mitochondrial polymerase gamma, and (d) other thalamus lesions not associated with the seizure disorder (16 patients). The spectrum of thalamus lesions in patients with seizure disorders is wider than previously reported. Postictal pulvinar lesions can persist and may result in thalamic atrophy. Linear defects in the anterior thalamus are associated with limbic system atrophy. (orig.)

  9. Chronic periodontitis, inflammatory cytokines, and interrelationship with other chronic diseases.

    Science.gov (United States)

    Cardoso, Elsa Maria; Reis, Cátia; Manzanares-Céspedes, Maria Cristina

    2018-01-01

    Periodontal diseases, such as chronic periodontitis, share common inflammatory risk factors with other systemic and chronic inflammatory disorders. Mucosal tissues, such as oral epithelia, are exposed to environmental stressors, such as tobacco and oral bacteria, that might be involved in promoting a systemic inflammatory state. Conversely, chronic disorders can also affect oral health. This review will summarize recent evidence for the interrelationship between chronic periodontitis and other prevalent chronic diseases such as cardiovascular diseases, diabetes, cancer and chronic respiratory diseases. The association with pregnancy is also included due to possible obstetric complications. We will focus on inflammatory cytokines such as TNF-alpha, IL-1, and IL-6, because they have been shown to be increased in patients with chronic periodontitis, in patients with chronic systemic diseases, and in patients with both chronic periodontitis and other chronic diseases. Therefore, an imbalance towards a proinflammatory immune response could underline a bidirectional link between chronic periodontitis and other chronic diseases. Finally, we highlight that a close coordination between dental and other health professionals could promote oral health and prevent or ameliorate other chronic diseases.

  10. Locally disordered methylation forms the basis of intra-tumor methylome variation in chronic lymphocytic leukemia

    Science.gov (United States)

    Landau, Dan A.; Clement, Kendell; Ziller, Michael J.; Boyle, Patrick; Fan, Jean; Gu, Hongcang; Stevenson, Kristen; Sougnez, Carrie; Wang, Lili; Li, Shuqiang; Kotliar, Dylan; Zhang, Wandi; Ghandi, Mahmoud; Garraway, Levi; Fernandes, Stacey M.; Livak, Kenneth J.; Gabriel, Stacey; Gnirke, Andreas; Lander, Eric S.; Brown, Jennifer R.; Neuberg, Donna; Kharchenko, Peter V.; Hacohen, Nir; Getz, Gad; Meissner, Alexander; Wu, Catherine J.

    2014-01-01

    SUMMARY Intra-tumoral heterogeneity plays a critical role in tumor evolution. To define the contribution of DNA methylation to heterogeneity within tumors, we performed genome-scale bisulfite sequencing of 104 primary chronic lymphocytic leukemias (CLL). Compared to 26 normal B cell samples, CLLs consistently displayed higher intra-sample variability of DNA methylation patterns across the genome, which appears to arise from stochastically disordered methylation in malignant cells. Transcriptome analysis of bulk and single CLL cells revealed that methylation disorder was linked to low-level expression. Disordered methylation was further associated with adverse clinical outcome. We therefore propose that disordered methylation plays a similar role to genetic instability, enhancing the ability of cancer cells to search for superior evolutionary trajectories. PMID:25490447

  11. Laterality judgments are not impaired in patients with chronic whiplash associated disorders.

    Science.gov (United States)

    Pedler, Ashley; Motlagh, Helena; Sterling, Michele

    2013-02-01

    Impaired integration of the body schema with motor processes may contribute to painful and/or restricted movement in chronic pain. Laterality judgment tasks assess this integration of the body schema with motor processes. The purpose of this study was to assess if patients with chronic whiplash associated disorders (WAD) are impaired on laterality judgment tasks. Accuracy (ACC) and reaction time (RT) for foot and neck laterality tasks were assessed in 64 (35 female) patients with chronic (>6 months) WAD and 24 (14 female) asymptomatic subjects. Pain characteristics, post-traumatic stress symptoms, cold pain thresholds (CPT) and pressure pain thresholds (PPT) were collected for patients with WAD. The effect of WAD and body part on laterality task performance was assessed. For patients with WAD, the correlations between neck task performance and pain characteristics, post-traumatic stress symptoms and pain thresholds were assessed. There was no effect of group on laterality performance. Subjects showed better RT (p laterality task in patients with WAD. Cervical spine PPT were significantly correlated with accuracy (r = 0.36) and RT (r = 0.29) in patients with WAD. These findings suggest that patients with chronic WAD are not impaired on neck or foot laterality judgment tasks. Laterality training is not indicated in the management of chronic WAD. Copyright © 2012 Elsevier Ltd. All rights reserved.

  12. Chronic sleep reduction in adolescents with Delayed Sleep Phase Disorder and effects of melatonin treatment

    NARCIS (Netherlands)

    van Maanen, Annette; Dewald-Kaufmann, Julia F.; Smits, Marcel G.; Oort, Frans J.; Meijer, Anne Marie

    2013-01-01

    Homeostatic and circadian changes that occur during adolescence can result in chronic sleep reduction. This may particularly be true for adolescents with Delayed Sleep Phase Disorder (DSPD), which is associated with late Dim Light Melatonin Onset (DLMO). This study assessed the influence of

  13. Acid-base disorders in calves with chronic diarrhea.

    Science.gov (United States)

    Bednarski, M; Kupczyński, R; Sobiech, P

    2015-01-01

    The aim of this study was to analyze disorders of acid-base balance in calves with chronic diarrhea caused by mixed, viral, bacterial and Cryptosporydium parvum infection. We compared results ob- tained with the classic model (Henderson-Hasselbalch) and strong ion approach (the Steward model). The study included 36 calves aged between 14 and 21 days. The calves were allocated to three groups: I - (control) non-diarrheic calves, group II - animals with compensated acid-base imbalance and group III calves with compensated acid-base disorders and hypoalbuminemia. Plasma concentrations of Na+, K+, Cl-, C12+, Mg2+, P, albumin and lactate were measured. In the classic model, acid-base balance was determined on the basis of blood pH, pCO2, HCO3-, BE and anion gap. In the strong ion model, strong ion difference (SID), effective strong anion difference, total plasma concentration of nonvolatile buffers (A(Tot)) and strong ion gap (SIG) were measured. The control calves and the animals from groups II and III did not differ significantly in terms of their blood pH. The plasma concentration of HCO3-, BE and partial pressure of CO2 in animals from the two groups with chronic diarrhea were significantly higher than those found in the controls. The highest BE (6.03 mmol/l) was documented in calves from group II. The animals from this group presented compensation resulted from activation of metabolic mechanisms. The calves with hypoal- buminemia (group III) showed lower plasma concentrations of albumin (15.37 g/L), Cl (74.94 mmol/L), Mg2+ (0.53 mmol/L), P (1.41 mmol/L) and higher value of anion gap (39.03 mmol/L). This group III presented significantly higher SID3 (71.89 mmol/L), SID7 (72.92 mmol/L) and SIG (43.53 mmol/L) values than animals from the remaining groups (P acid-base disturbance in these cases suggests that classic model have some limitations. This model can not be recommended for use whenever serum albumin or phosphate concentrations are markedly abnormal.

  14. The nature, consequences, and management of neurological disorders in chronic kidney disease.

    Science.gov (United States)

    Jabbari, Bahman; Vaziri, Nosratola D

    2018-04-01

    Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy. The central neurological symptoms of CKD are due to the cortical predominantly cortical, or subcortical lesions. Cognitive decline, encephalopathy, cortical myoclonus, asterixis and epileptic seizures are distinct features of the cortical disorders of CKD. Diffuse white matter disease due to ischemia and hypoxia may be an important cause of subcortical encephalopathy. A special and more benign form of subcortical disorder caused by brain edema in CKD is termed posterior reversible encephalopathy. Subcortical pathology especially when it affects the basal ganglia causes a number of movement disorders including Parkinsonism, chorea and dystonia. A stimulus-sensitive reflex myoclonus is believed to originate from the medullary structures. Sleep disorder and restless leg syndrome are common in CKD and have both central and peripheral origin. This article provides an overview of the available data on the nature, prevalence, pathophysiology, consequences and treatment of neurological complications of CKD. © 2017 International Society for Hemodialysis.

  15. Temporomandibular disorder in chronic migraine

    Directory of Open Access Journals (Sweden)

    N. V. Latysheva

    2017-01-01

    Full Text Available Rationale: For many years, temporomandibular disorder (TMD has been studied primarily by dentists and maxillofacial surgeons. However, new data is emerging that TMD is comorbid with various types of headache; however this association has not been studied in detail. Aim: To analyze TMD prevalence and clinical structure in patients with migraine. Materials and methods: We assessed 84 patients with chronic migraine (CM and 42 patients with episodic migraine (EM. TMD was diagnosed according to the Diagnostic Criteria for Temporomandibular Disorders: Clinical Protocol and Assessment Instruments 2014. We also performed subgroup analysis for low-frequency EM (less than 4 headache days per month, LFEM vs. high-frequency EM and CM (over 10 headache days per month, HFEM + CM. Results: In both groups, myofascial pain was the most prevalent form of TMD. The prevalence of TMD was higher in CM as compared to EM (52.4% vs. 28.6%, correspondingly, р = 0.02. Even more evident differences were observed between LFEM and HFEM + CM (18.2% vs. 51.6%, correspondingly, р < 0.009. The difference was significant for painrelated TMD only. The prevalence of bruxism was comparable across LFEM and HFEM + CM (18% vs. 30.5%, correspondingly, р = 0.3 and significantly lower than TMD prevalence in HFEM + CM (30.5% vs. 51.6%, correspondingly, p = 0.005. The anxiety level in patients with and without TMD was also comparable (8.1 ± 4.1 vs. 8.3 ± 4.7, correspondingly, р = 0.8. Conclusion: CM patients have a high prevalence of pain-related TMD (52.4%. The prevalence of TMD in LFEM is comparable to that in the general population. The presence of bruxism or anxiety cannot be associated with a high TMD prevalence in our patients. In CM, pain in the masticatory muscles may be caused by anti-nociceptive dysfunction, mirroring central sensitization and disrupted descending modulation of pain.

  16. AKT is a therapeutic target in myeloproliferative neoplasms.

    Science.gov (United States)

    Khan, I; Huang, Z; Wen, Q; Stankiewicz, M J; Gilles, L; Goldenson, B; Schultz, R; Diebold, L; Gurbuxani, S; Finke, C M; Lasho, T L; Koppikar, P; Pardanani, A; Stein, B; Altman, J K; Levine, R L; Tefferi, A; Crispino, J D

    2013-09-01

    The majority of patients with BCR-ABL1-negative myeloproliferative neoplasms (MPN) harbor mutations in JAK2 or MPL, which lead to constitutive activation of the JAK/STAT, PI3K and ERK signaling pathways. JAK inhibitors by themselves are inadequate in producing selective clonal suppression in MPN and are associated with hematopoietic toxicities. MK-2206 is a potent allosteric AKT inhibitor that was well tolerated, including no evidence of myelosuppression, in a phase I study of solid tumors. Herein, we show that inhibition of PI3K/AKT signaling by MK-2206 affected the growth of both JAK2V617F- or MPLW515L-expressing cells via reduced phosphorylation of AKT and inhibition of its downstream signaling molecules. Moreover, we demonstrate that MK-2206 synergizes with ruxolitinib in suppressing the growth of JAK2V617F-mutant SET2 cells. Importantly, MK-2206 suppressed colony formation from hematopoietic progenitor cells in patients with primary myelofibrosis and alleviated hepatosplenomegaly and reduced megakaryocyte burden in the bone marrows, livers and spleens of mice with MPLW515L-induced MPN. Together, these findings establish AKT as a rational therapeutic target in the MPNs.

  17. JAK inhibitors for the treatment of myeloproliferative neoplasms and other disorders [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    William Vainchenker

    2018-01-01

    Full Text Available JAK inhibitors have been developed following the discovery of the JAK2V617F in 2005 as the driver mutation of the majority of non-BCR-ABL1 myeloproliferative neoplasms (MPNs. Subsequently, the search for JAK2 inhibitors continued with the discovery that the other driver mutations (CALR and MPL also exhibited persistent JAK2 activation. Several type I ATP-competitive JAK inhibitors with different specificities were assessed in clinical trials and exhibited minimal hematologic toxicity. Interestingly, these JAK inhibitors display potent anti-inflammatory activity. Thus, JAK inhibitors targeting preferentially JAK1 and JAK3 have been developed to treat inflammation, autoimmune diseases, and graft-versus-host disease. Ten years after the beginning of clinical trials, only two drugs have been approved by the US Food and Drug Administration: one JAK2/JAK1 inhibitor (ruxolitinib in intermediate-2 and high-risk myelofibrosis and hydroxyurea-resistant or -intolerant polycythemia vera and one JAK1/JAK3 inhibitor (tofacitinib in methotrexate-resistant rheumatoid arthritis. The non-approved compounds exhibited many off-target effects leading to neurological and gastrointestinal toxicities, as seen in clinical trials for MPNs. Ruxolitinib is a well-tolerated drug with mostly anti-inflammatory properties. Despite a weak effect on the cause of the disease itself in MPNs, it improves the clinical state of patients and increases survival in myelofibrosis. This limited effect is related to the fact that ruxolitinib, like the other type I JAK2 inhibitors, inhibits equally mutated and wild-type JAK2 (JAK2WT and also the JAK2 oncogenic activation. Thus, other approaches need to be developed and could be based on either (1 the development of new inhibitors specifically targeting JAK2V617F or (2 the combination of the actual JAK2 inhibitors with other therapies, in particular with molecules targeting pathways downstream of JAK2 activation or the stability of JAK2

  18. Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology.

    Science.gov (United States)

    Gong, Jerald Z; Cook, James R; Greiner, Timothy C; Hedvat, Cyrus; Hill, Charles E; Lim, Megan S; Longtine, Janina A; Sabath, Daniel; Wang, Y Lynn

    2013-11-01

    Recurrent mutations in JAK2 and MPL genes are genetic hallmarks of BCR-ABL1-negative myeloproliferative neoplasms. Detection of JAK2 and MPL mutations has been incorporated into routine diagnostic algorithms for these diseases. This Special Article summarizes results from a nationwide laboratory survey of JAK2 and MPL mutation analysis. Based on the current practice pattern and the literature, this Special Article provides recommendations and guidelines for laboratory practice for detection of mutations in the JAK2 and MPL genes, including clinical manifestations for prompting the mutation analysis, current and recommended methodologies for testing the mutations, and standardization for reporting the test results. This Special Article also points to future directions for genomic testing in BCR-ABL1-negative myeloproliferative neoplasms. Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  19. Mutation Analysis of JAK2V617F, FLT3-ITD, NPM1, and DNMT3A in Chinese Patients with Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Min Wang

    2014-01-01

    Full Text Available Since the discovery of JAK2V617F tyrosine kinase-activating mutation, several genes have been found mutated in myeloproliferative neoplasms (MPNs. FLT3-ITD, NPM1, and DNMT3A mutations frequently occurred in AML patients and have been found conferred with myeloproliferative neoplasms in mouse model. Therefore, we sought to search for mutations in JAK2V617F, FLT3-ITD, NPM1, and DNMT3A in 129 cases including 120 classic MPN cases and 9 MDS/MPN cases. JAK2V617F mutation was found in 60% of the 120 classic MPNs. However, none of the patients displayed FLT3-ITD and NPM1 mutations; only 2 patients harbored DNMT3A R882 mutation. Further studies including whole-genome sequence will be conducted to investigate the possible involvement of these genes in MPN.

  20. Association of TNF polymorphisms with JAK2 (V617F) myeloproliferative neoplasms in Brazilian patients.

    Science.gov (United States)

    Macedo, Luciana Conci; de Cesare Quintero, Fernanda; Pagliari-E-Silva, Sara; Pagnano, Katia Borgia Barbosa; Rodrigues, Camila; de Alencar, Josiane Bazzo; Sell, Ana Maria; Visentainer, Jeane Eliete Laguila

    2016-03-01

    The classical chromosome Philadelphia-negative myeloproliferative neoplasms (MPNs) are a group of disorders that share clinical, hematological, and histological features. Proinflammatory cytokines such as tumor necrosis factor-α (TNF-α) are elevated in patients with MPN. The aim of this study was to verify the association between the polymorphisms of TNF gene (-308G/A and -238 G/A) in BCR-ABL-negative MPN in our population. Blood samples obtained from MPN patients were genotyped for the JAK2V617F mutation and both TNF polymorphisms using PCR-RFLP. Thirty three (26.8%) patients with polycythemia vera (PV), 35 (28.7%) essential thrombocythemia (ET), 22 (17.7%) primary myelofibrosis (PMF), and 33 (26.8%) with unclassifiable MPN (MPNu) were included in the study. The JAK2 V617F mutation was detected in 94 (76.42%) patients. Were observed a significant increase on the frequency of the TNF-238 GA genotype in MPN patients compared to controls (OR=2.21, 95% CI=1.02-4.80, P<0.04). The distribution of the genotypes and allelic frequencies of TNF-308 was significantly different among the MPNs, JAK2V617F positive, PV and PMF, and controls. Our data has demonstrated that the polymorphisms on TNF-238 GA, TNF-308 GA were associated to MPN development in this population, triggered by JAK2 V617F mutation. Copyright © 2015. Published by Elsevier Inc.

  1. Does Chronic Administration of Sodium Valproate to Juvenile Rats Induce Movement Disorder and Cognitive Dysfunction during Adulthood?

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    Namitha Nair

    2018-01-01

    Full Text Available Background: Children with seizure disorder are often treated with sodium valproate (SV on long-term basis. SV acts mainly through gamma amino butyric acid pathways, reducing the excitatory neurotransmission and modifying the monoamine concentration. Altered monoamine concentration by SV is expected to cause movement disorder and cognitive dysfunction, considered reversible after the withdrawal of treatment, but some claim it to be irreversible. It is not clear whether such adverse effects continue during adulthood. The aim of this study was to investigate whether chronic administration of SV in juvenile rats causes movement disorder and cognitive dysfunction during their early adulthood. Methods: Sixteen-day-old male Wistar rats from the central animal house, KMC, Mangalore, India in 2015, received either 200 or 400 mg/kg dose of SV for 45 consecutive days and another group served as control. Thirty days after discontinuation of the drug, at postnatal day 90, the rats were tested for movement disorder and cognitive function. Results: Chronic SV treatment in juvenile rats resulted in slow movement, tremors during adulthood but did not affect muscle tone, locomotor and exploratory activities. It also caused cognitive dysfunction in adult rats. Conclusion: Despite the reported safety of chronic SV therapy, its adverse effects such as Parkinsonism symptoms or cognitive dysfunctions should be of concern in all young patients treated with SV for many years. Persistence of cognitive impairment, tremors and generalized slow movement during adulthood after cessation of treatment that was observed in this study, warrants a close monitoring system in children who receive long-term sodium valproate.

  2. Overlapping mechanisms of stress-induced relapse to opioid use disorder and chronic pain: Clinical implications

    Directory of Open Access Journals (Sweden)

    Udi E Ghitza

    2016-05-01

    Full Text Available Over the past two decades, a steeply growing number of persons with chronic non-cancer pain have been using opioid analgesics chronically to treat it, accompanied by a markedly increased prevalence of individuals with opioid-related misuse, opioid use disorders, emergency department visits, hospitalizations, admissions to drug treatment programs, and drug overdose deaths. This opioid misuse and overdose epidemic calls for well-designed randomized-controlled clinical trials into more skillful and appropriate pain management and for developing effective analgesics which have lower abuse liability and are protective against stress induced by chronic non-cancer pain. However, incomplete knowledge regarding effective approaches to treat various types of pain has been worsened by an under-appreciation of overlapping neurobiological mechanisms of stress, stress-induced relapse to opioid use, and chronic non-cancer pain in patients presenting for care for these conditions. This insufficient knowledge base has unfortunately encouraged common prescription of conveniently-available opioid pain-relieving drugs with abuse liability, as opposed to treating underlying problems using team-based multidisciplinary, patient-centered, collaborative-care approaches for addressing pain and co-occurring stress and risk for opioid use disorder. This paper reviews recent neurobiological findings regarding overlapping mechanisms of stress-induced relapse to opioid misuse and chronic non-cancer pain, and then discusses these in the context of key outstanding evidence gaps and clinical-treatment research directions which may be pursued to fill these gaps. Such research directions, if conducted through well-designed randomized controlled trials, may substantively inform clinical practice in general medical settings on how to effectively care for patients presenting with pain-related distress and these common co-occurring conditions.

  3. Juvenile Myelomonocytic Leukemia

    Science.gov (United States)

    ... myeloproliferative neoplasms, leukemia , and other conditions . Chronic Myelomonocytic Leukemia Key Points Chronic myelomonocytic leukemia is a disease ... chance of recovery) and treatment options. Chronic myelomonocytic leukemia is a disease in which too many myelocytes ...

  4. Long-Term Effects of Chemical Warfare on Post-traumatic Stress Disorder, Depression, and Chronic Medical Conditions in Veterans.

    Science.gov (United States)

    Safi-Aghdam, Hamideh; Shafie, Mehrzad; Khoshdel, Alireza; Moazen-Zadeh, Ehsan; Avakh, Farhad; Rahmani, Arash

    2018-04-24

    We investigated the association between exposure to chemical warfare and chronic mental/physical conditions. This was a secondary analysis of data from a case-control study on Iranian male veterans. Participants with neuropsychiatric disorders other than depressive/anxiety disorders, anatomical defects, or malignancies were excluded. Compared to non-exposed veterans, exposed veterans demonstrated significantly higher odds of PTSD [OR (95% CI) = 5.23 (1.98-13.85)], hypertension [OR (95% CI) = 5.57 (1.68-18.48)], coronary heart disease [OR (95% CI) = 6.8 (1.62-28.49)], and diabetes [OR (95% CI) = 3.88 (1.35-11.16)], and marginally higher odds of moderate to severe depressive symptoms [OR (95% CI) = 2.21 (0.93-5.28)]. This study provides preliminary evidence on association of exposure to chemical warfare with long-term mental disorders as well as chronic medical conditions.

  5. JAK2 mutations and clinical practice in myeloproliferative neoplasms.

    Science.gov (United States)

    Tefferi, Ayalew

    2007-01-01

    With the discovery in the last 3 years of novel Janus kinase 2 (JAK2) and thrombopoietin receptor (MPL) mutations, the pathogenetic understanding of and clinical practice for myeloproliferative neoplasms (MPNs) have entered a new era. Each one of these newly discovered mutations, including JAK2V617F, MPLW515L, and a JAK2 exon 12 mutation, has been shown to result in constitutive activation of JAK-STAT signaling and also induce a MPN phenotype in mice. Thus, JAK2 is now considered to be a legitimate target for drug development in MPNs, and small molecule JAK2 inhibitors have already gone through successful preclinical testing, and early-phase human trials in primary myelofibrosis have already begun. Furthermore, JAK2 mutation screening has now become a front-line diagnostic test in the evaluation of both "erythrocytosis" and thrombocytosis and the 2001 World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis have now been revised to incorporate JAK2V617F mutation screening.

  6. Application of positron emission tomography with 18ffdg in combined diagnosis of anxiety and depressive disorders in elderly patients with chronic heart failure

    Directory of Open Access Journals (Sweden)

    A. A. Stanzhevsky

    2013-01-01

    Full Text Available 35 patients with chronic cardiac failure of the third functional class and anxiety depressive disorders were examined. The screening group consisted of 35 patients with chronic cardiac insufficiency without affective disorders. Evaluation of the clinical state was carried out by echocardiography, 6 minute walk and estimation of therapy compliance. Severity of the symptoms of anxiety and depressive disorders were studied by MMPI test, Beck`s test, Hamilton`s scale, Spielberg scale. PET with 18FFDG was carried out on PET tomographs «EcatExact 47» and «Ecat Exact HR+» (Siemens, Germany. It was found that anxiety depressive disorders have negative effect on the clinical state and the therapy compliance in the patients with chronic cardiac failure. Significant correlation between the clinical data and the brain 18FFDG PET results was seen in most cases.

  7. Tyrosine 625 plays a key role and cooperates with tyrosine 630 in MPL W515L-induced signaling and myeloproliferative neoplasms.

    Science.gov (United States)

    Yu, Chunjie; Yang, Qiong; Chen, Yuhong; Wang, Demin; Levine, Ross; Crispino, John; Wen, Qiang; Huang, Zan

    2016-01-01

    Myeloproliferative neoplasms (MPN) are a group of blood cancers that boost normal blood cell production in the bone marrow. Abnormal mutations in stem cells were found accompanying with the occurrence of MPN. It has been shown that MPL mutations (MPL W515L or MPL W515K) were involved in patients with MPN. Since tyrosine residues 625 and 630 mediate normal MPL signaling, whether them affect MPL W515L-induced myeloproliferative neoplasms (MPNs) is unknown. In this study, we further tested their functions in MPL W515L-induced myeloproliferative neoplasms (MPNs) by substituting either or both of them with phenylalanine in MPL W515L (termed as MPL515/625, MPL515/630 and MPL515/625/630, respectively). In vitro, MPL515/630 but not MPL515/625 or MPL515/625/630 retained the ability to induce TPO-independent proliferation and increase colony-forming unit megakaryocytes (CFU-Mk). Accordingly, differential activation of the downstream signaling by four mutants was observed and constitutively active STAT5 or AKT instead of STAT3 partially compensated MPL515/625/630 function. Further support this, STAT5-deficiency impaired MPL W515L-induced CFU-Mk expansion. In vivo, MPL515/630 but not MPL515/625 or MPL515/625/630 induced typical features of MPNs with high WBC and platelet counts, splenomegaly, hepatomegaly and hypercellularity in the bone marrow. Surprisingly, MPL515/625 also caused hypercellularity of bone marrow and splenomegaly without any other significant features. We also observed differential effects of the four mutants on progenitors, myeloid cells and megakaryocytes. Our studies have revealed distinct features of tyrosine sites 625 and 630 in mediating MPL W515L-induced megakaryocyte hyperproliferation and MPNs. Our study also suggests that MPL cytosolic phosphorylated Y625 and flanking amino acids could become targets for pharmacologic inhibition in MPNs.

  8. Correlation between the body balance and functional capacity from elderly with chronic vestibular disorders.

    Science.gov (United States)

    Sousa, Raquel Ferreira de; Gazzola, Juliana Maria; Ganança, Maurício Malavasi; Paulino, Célia Aparecida

    2011-01-01

    Vestibular disorders are common among the elderly, mainly resulting in dizziness and imbalance--symptoms which can impact daily routine activities. To study the correlation between body balance and functional capacity and a comparison of risk of falls, actual falls and the functional capacity of the elderly with chronic vestibular dysfunctions. A cross-sectional, clinical and experimental study with 50 senior citizens--60 to 86 years, with chronic peripheral vestibular dysfunction. These participants underwent body balance assessment by the Dynamic Gait Index (DGI) and functional capacity assessment by the Functional Independence Measure (FIM). The data was tested using the Spearman correlation and comparison tests, Mann-Whitney and Kruskal-Wallis, being α=5% (0.05). There was a significant correlation between the total DGI score and all FIM scores, especially the total score (r=0.447; pfunctional capacity in elderly patients with the highest risk of falling (pfunctional capacity in elderly patients with peripheral vestibular disorders, that is: the better the balance, the better the individual's functional capacity. In addition, a worse functional capacity increases the individual's risk of falling.

  9. Dissociation, shame, complex PTSD, child maltreatment and intimate relationship self-concept in dissociative disorder, chronic PTSD and mixed psychiatric groups.

    Science.gov (United States)

    Dorahy, Martin J; Middleton, Warwick; Seager, Lenaire; McGurrin, Patrick; Williams, Mary; Chambers, Ron

    2015-02-01

    Whilst a growing body of research has examined dissociation and other psychiatric symptoms in severe dissociative disorders (DDs), there has been no systematic examination of shame and sense of self in relationships in DDs. Chronic child abuse often associated with severe DDs, like dissociative identity disorder, is likely to heighten shame and relationship concerns. This study investigated complex posttraumatic stress disorder (PTSD), borderline and Schneiderian symptoms, dissociation, shame, child abuse, and various markers of self in relationships (e.g., relationship esteem, relationship depression, fear of relationships). Participants were assessed via clinical interview with psychometrically sound questionnaires. They fell into three diagnostic groups, dissociative disorder (n=39; primarily dissociative identity disorder), chronic PTSD (Chr-PTSD; n=13) or mixed psychiatric presentations (MP; n=21; primarily mood and anxiety disorders). All participants had a history of child abuse and/or neglect, and the groups did not differ on age and gender. The DD group was higher on nearly all measured variables than the MP group, and had more severe dissociative, borderline and Schneiderian symptoms than the Chr-PTSD sample. Shame and complex PTSD symptoms fell marginally short of predicting reductions in relationship esteem, pathological dissociative symptoms predicted increased relationship depression, and complex PTSD symptoms predicted fear of relationships. The representativeness of the samples was unknown. Severe psychiatric symptoms differentiate DDs from chronic PTSD, while dissociation and shame have a meaningful impact on specific markers of relationship functioning in psychiatric patients with a history of child abuse and neglect. Copyright © 2014 Elsevier B.V. All rights reserved.

  10. Chronic exposure to low concentrations of lead induces metabolic disorder and dysbiosis of the gut microbiota in mice.

    Science.gov (United States)

    Xia, Jizhou; Jin, Cuiyuan; Pan, Zihong; Sun, Liwei; Fu, Zhengwei; Jin, Yuanxiang

    2018-08-01

    Lead (Pb) is one of the most prevalent toxic, nonessential heavy metals that can contaminate food and water. In this study, effects of chronic exposure to low concentrations of Pb on metabolism and gut microbiota were evaluated in mice. It was observed that exposure of mice to 0.1mg/L Pb, supplied via drinking water, for 15weeks increased hepatic TG and TCH levels. The levels of some key genes related to lipid metabolism in the liver increased significantly in Pb-treated mice. For the gut microbiota, at the phylum level, the relative abundance of Firmicutes and Bacteroidetes changed obviously in the feces and the cecal contents of mice exposed to 0.1mg/L Pb for 15weeks. In addition, 16s rRNA gene sequencing further discovered that Pb exposure affected the structure and richness of the gut microbiota. Moreover, a 1 H NMR metabolic analysis unambiguously identified 31 metabolites, and 15 metabolites were noticeably altered in 0.1mg/L Pb-treated mice. Taken together, the data indicate that chronic Pb exposure induces dysbiosis of the gut microbiota and metabolic disorder in mice. Chronic Pb exposure induces metabolic disorder, dysbiosis of the gut microbiota and hepatic lipid metabolism disorder in mice. Copyright © 2018 Elsevier B.V. All rights reserved.

  11. Previous Mental Disorders and Subsequent Onset of Chronic Back or Neck Pain : Findings From 19 Countries

    NARCIS (Netherlands)

    Viana, Maria Carmen; Lim, Carmen C W; Garcia Pereira, Flavia; Aguilar-Gaxiola, Sergio; Alonso, Jordi; Bruffaerts, Ronny; de Jonge, Peter; Caldas-de-Almeida, Jose Miguel; O'Neill, Siobhan; Stein, Dan J; Al-Hamzawi, Ali; Benjet, Corina; Cardoso, Graça; Florescu, Silvia; de Girolamo, Giovanni; Haro, Josep Maria; Hu, Chiyi; Kovess-Masfety, Viviane; Levinson, Daphna; Piazza, Marina; Posada-Villa, José; Rabczenko, Daniel; Kessler, Ronald C; Scott, Kate M

    Associations between depression/anxiety and pain are well established, but its directionality is not clear. We examined the associations between temporally previous mental disorders and subsequent self-reported chronic back/neck pain onset, and investigated the variation in the strength of

  12. Coping in adolescents and young adults with chronic digestive disorders: impact on school and leisure activities.

    NARCIS (Netherlands)

    Calsbeek, H.; Rijken, M.; Bekkers, M.J.T.M.; Berge Henegouwen, G.P. van; Dekker, J.

    2006-01-01

    Coping strategies were compared across adolescents and young adults with several chronic digestive disorders and healthy peers, and across age groups. Subsequently, the impact of coping on performance in school and leisure activities was investigated. Participants were adolescents and young adults

  13. Thyroid Disorders and Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Mohamed Mohamedali

    2014-01-01

    Full Text Available Thyroid hormones play a very important role regulating metabolism, development, protein synthesis, and influencing other hormone functions. The two main hormones produced by the thyroid are triiodothyronine (T3 and thyroxine (T4. These hormones can also have significant impact on kidney disease so it is important to consider the physiological association of thyroid dysfunction in relation to chronic kidney disease (CKD. CKD has been known to affect the pituitary-thyroid axis and the peripheral metabolism of thyroid hormones. Low T3 levels are the most common laboratory finding followed by subclinical hypothyroidism in CKD patients. Hyperthyroidism is usually not associated with CKD but has been known to accelerate it. One of the most important links between thyroid disorders and CKD is uremia. Patients who are appropriately treated for thyroid disease have a less chance of developing renal dysfunction. Clinicians need to be very careful in treating patients with low T3 levels who also have an elevation in TSH, as this can lead to a negative nitrogen balance. Thus, clinicians should be well educated on the role of thyroid hormones in relation to CKD so that proper treatment can be delivered to the patient.

  14. A family study of chronic post-traumatic stress disorder following rape trauma.

    Science.gov (United States)

    Davidson, J R; Tupler, L A; Wilson, W H; Connor, K M

    1998-01-01

    There is evidence that familial factors serve as determinants of risk for post-traumatic stress disorder (PTSD), especially familial anxiety. This study investigates the relationship between chronic PTSD and family psychiatric morbidity. The sample was drawn from 81 female rape survivors with or without lifetime PTSD, 31 major depressive disorder controls, 20 anxiety disorder controls and 39 healthy controls. First-degree family members were directly interviewed (n = 285) and diagnoses assigned of major depressive, anxiety and alcohol or substance use disorder. Information was also available by family history for 639 relatives. In the directly interviewed sample, no consistently increased morbidity risk was observed for anxiety, PTSD, or alcohol/substance abuse in the rape survivor groups, but there was an increase in depression relative to the anxiety in healthy control groups. When comorbid depression in rape survivor probands was taken into account post hoc, an increased risk for depression was noted in family members of PTSD probands with depression, but not in relatives of PTSD probands without lifetime depression. Among rape survivor probands with non-comorbid PTSD, rates by history of familial anxiety and depression were negligible. In a logistic regression analysis, individual vulnerability to depression served as an independent predictor of chronic PTSD, along with specific trauma-related variables. In the family history group, results were consistent with those obtained from the directly interviewed group. Our findings clearly support the view that PTSD following rape is associated with familial vulnerability to major depression, which may thus serve as a risk factor for developing PTSD. The exact nature of this predisposition calls for further inquiry and there is a need to expand this study to include other PTSD populations. PTSD may on occasion represent a form of depression which is induced and/or modified neurobiologically and phenomenologically by

  15. Chronic diseases and mental disorder.

    NARCIS (Netherlands)

    Verhaak, P.F.M.; Heijmans, M.J.W.M.; Peters, L.; Rijken, M.

    2005-01-01

    The aim of this study was to achieve a better understanding of the relationship between chronic medical illness and mental distress. Therefore, the association between chronic medical illness and mental distress was analysed, taking into account the modifying effects of generic disease

  16. Zap-70 positive chronic lymphocytic leukemia co-existing with Jak 2 V671F positive essential thrombocythemia: A common defective stem cell?

    OpenAIRE

    Tabaczewski, Piotr; Nadesan, Sushani; Lim, Seah H

    2008-01-01

    Essential thrombocythemia (ET) co-existing with chronic lymphocytic leukemia (CLL) is extremely rare. We report two cases of ET with Jak 2 V617F in Zap-70+ CLL. ET is a myeloproliferative stem cell disease. Zap-70 expression in CLL correlates with non-mutated immunoglobulin genes. The occurrence of a less mature CLL in patients with a pluripotential stem cell disease raises the possibility that an initial “trigger hit” occurred in a pre-Jak 2 common early progenitor in these patients. Subsequ...

  17. Psychiatric comorbidity of chronic daily headache: focus on traumatic experiences in childhood, post-traumatic stress disorder and suicidality.

    Science.gov (United States)

    Juang, Kai Dih; Yang, Chin-Yi

    2014-04-01

    The fifth edition of the Diagnostic and Statistic Manual (DSM-5) reclassified some mental disorders recently. Post-traumatic stress disorder (PTSD) is in a new section termed "trauma- and stressor-related disorder". Community-based studies have shown that PTSD is associated with a notably high suicidal risk. In addition to previous findings of comorbidity between chronic daily headache (CDH) and both depressive disorders and anxiety disorders, recent data suggest that frequency of childhood maltreatment, PTSD, and suicidality are also increased in CDH. CDH patients with migraine aura are especially at risk of suicidal ideation. Research suggests that migraine attack, aura, frequency, and chronicity may all be related to serotonergic dysfunction. Vulnerability to PTSD and suicidality are also linked to brain serotonin function, including polymorphisms in the serotonin transporter gene (5-HTTLPR). In the present review, we focus on recent advances in knowledge of traumatic experiences in childhood, PTSD, and suicidality in relation to migraine and CDH. We hypothesize that vulnerability to PTSD is associated with migraine attack, migraine aura, and CDH. We further postulate that these associations may explain some of the elevated suicidal risks among patients with migraine, migraine aura, and/or CDH. Field studies are required to support these hypotheses.

  18. Several submaximal exercise tests are reliable, valid and acceptable in people with chronic pain, fibromyalgia or chronic fatigue: a systematic review

    OpenAIRE

    Julia Ratter; Lorenz Radlinger; Cees Lucas

    2014-01-01

    Question: Are submaximal and maximal exercise tests reliable, valid and acceptable in people with chronic pain, fibromyalgia and fatigue disorders? Design: Systematic review of studies of the psychometric properties of exercise tests. Participants: People older than 18 years with chronic pain, fibromyalgia and chronic fatigue disorders. Intervention: Studies of the measurement properties of tests of physical capacity in people with chronic pain, fibromyalgia or chronic fatigue disorders were ...

  19. Pain, not chronic disease, is associated with the recurrence of depressive and anxiety disorders

    Science.gov (United States)

    2014-01-01

    Background Studies suggest that poor physical health might be associated with increased depression and anxiety recurrence. The objectives of this study were to determine whether specific chronic diseases and pain characteristics are associated with depression and anxiety recurrence and to examine whether such associations are mediated by subthreshold depressive or anxiety symptoms. Methods 1122 individuals with remitted depressive or anxiety disorder (Netherlands Study of Depression and Anxiety) were followed up for a period of four years. The impact of specific chronic diseases and pain characteristics on recurrence was assessed using Cox regression and mediation analyses. Results Chronic diseases were not associated with recurrence. Neck (HR 1.45, p depression recurrence but not anxiety. Subthreshold depressive symptoms mediated the associations between pain and depression recurrence. Conclusions Pain, not chronic disease, increases the likelihood of depression recurrence, largely through its association with aggravated subthreshold depressive symptoms. These findings support the idea of the existence of a mutually reinforcing mechanism between pain and depression and are indicative of the importance of shedding light on neurobiological links in order to optimize pain and depression management. PMID:24965597

  20. Characterization and Prognosis Significance of JAK2 (V617F), MPL, and CALR Mutations in Philadelphia-Negative Myeloproliferative Neoplasms

    OpenAIRE

    Singdong, Roongrudee; Siriboonpiputtana, Teerapong; Chareonsirisuthigul, Takol; Kongruang, Adcharee; Limsuwanachot, Nittaya; Sirirat, Tanasan; Chuncharunee, Suporn; Rerkamnuaychoke, Budsaba

    2016-01-01

    Background: The discovery of somatic acquired mutations of JAK2 (V617F) in Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) has not only improved rational disease classification and prognostication but also brings new understanding insight into the pathogenesis of diseases. Dosage effects of the JAK2 (V617F) allelic burden in Ph-negative MPNs may partially influence clinical ...

  1. Exercise and Cognitive Functioning in People With Chronic Whiplash-Associated Disorders: A Controlled Laboratory Study.

    Science.gov (United States)

    Ickmans, Kelly; Meeus, Mira; De Kooning, Margot; De Backer, Annabelle; Kooremans, Daniëlle; Hubloue, Ives; Schmitz, Tom; Van Loo, Michel; Nijs, Jo

    2016-02-01

    Controlled laboratory study. In addition to persistent pain, people with chronic whiplash-associated disorders (WAD) commonly deal with cognitive dysfunctions. In healthy individuals, aerobic exercise has a positive effect on cognitive performance, and preliminary evidence in other chronic pain conditions reveals promising results as well. However, there is evidence that people with chronic WAD may show a worsening of the symptom complex following physical exertion. To examine postexercise cognitive performance in people with chronic WAD. People with chronic WAD (n = 27) and healthy, inactive, sex- and age-matched controls (n = 27) performed a single bout of an incremental submaximal cycling exercise. Before and after the exercise, participants completed 2 performance-based cognitive tests assessing selective and sustained attention, cognitive inhibition, and simple and choice reaction time. At baseline, people with chronic WAD displayed significantly lower scores on sustained attention and simple reaction time (Pselective attention, cognitive inhibition, and choice reaction time (P>.05), compared with healthy controls. Postexercise, both groups showed significantly improved selective attention and choice reaction time (chronic WAD, P = .001; control, Pattention, cognitive inhibition, pain, and fatigue were observed (P>.05). In the short term, postexercise cognitive functioning, pain, and fatigue were not aggravated in people with chronic WAD. However, randomized controlled trials are required to study the longer-term and isolated effects of exercise on cognitive functioning.

  2. Smoking and common mental disorders in patients with chronic conditions: An analysis of data collected via a web-based screening system.

    Science.gov (United States)

    Matcham, Faith; Carroll, Amy; Chung, Natali; Crawford, Victoria; Galloway, James; Hames, Anna; Jackson, Karina; Jacobson, Clare; Manawadu, Dulka; McCracken, Lance; Moxham, John; Rayner, Lauren; Robson, Deborah; Simpson, Anna; Wilson, Nicky; Hotopf, Matthew

    Smoking is the largest preventable cause of death and disability in the UK and remains pervasive in people with mental disorders and in general hospital patients. We aimed to quantify the prevalence of mental disorders and smoking, examining associations between mental disorders and smoking in patients with chronic physical conditions. Data were collected via routine screening systems implemented across two London NHS Foundation Trusts. The prevalence of mental disorder, current smoking, nicotine dependence and wanting help with quitting smoking were quantified, and the relationships between mental disorder and smoking were examined, adjusting for age, gender and physical illness, with multiple regression models. A total of 7878 patients were screened; 23.2% screened positive for probable major depressive disorder, and 18.5% for probable generalised anxiety disorder. Overall, 31.4% and 29.2% of patients with probable major depressive disorder or generalised anxiety disorder respectively were current smokers. Probable major depression and generalised anxiety disorder were associated with 93% and 44% increased odds of being a current smoker respectively. Patients with depressive disorder also reported higher levels of nicotine dependence, and the presence of common mental disorder was not associated with odds of wanting help with quitting smoking. Common mental disorder in patients with chronic physical health conditions is a risk factor for markedly increased smoking prevalence and nicotine dependence. A general hospital encounter represents an opportunity to help patients who may benefit from such interventions. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. The Relationship Between Posttraumatic Stress Disorder and Chronic Pain in People Seeking Treatment for Chronic Pain: The Mediating Role of Psychological Flexibility.

    Science.gov (United States)

    Åkerblom, Sophia; Perrin, Sean; Rivano Fischer, Marcelo; McCracken, Lance M

    2018-06-01

    The symptoms of posttraumatic stress disorder (PTSD) and chronic pain are thought to interact to increase the severity and impact of both conditions, but the mechanisms by which they interact remain unclear. This study examines the relationship between PTSD and chronic pain and whether indices of Psychological Flexibility mediate the relationship between these 2 conditions. Standardized self-report measures of PTSD, pain severity, pain interference, depression, and psychological flexibility (pain-related acceptance, committed action, cognitive fusion, and values-based action) were obtained from 315 people seeking treatment for chronic pain who also reported at least 1 traumatic experience. People seeking treatment for chronic pain and reporting symptoms consistent with a current diagnosis of PTSD had significantly higher levels of pain severity, pain interference, depression, and cognitive fusion and lower levels of pain-related acceptance and committed action than those reporting symptoms below the diagnostic threshold for PTSD. Pain-related acceptance, committed action, cognitive fusion, and depression mediated the relationship between PTSD and pain severity/interference, with pain-related acceptance being the strongest mediator from the Psychological Flexibility model. Processes from the Psychological Flexibility model were identified as mediators of the relationship between PTSD and chronic pain in people seeking treatment for chronic pain. The Psychological Flexibility model may be useful as an overarching model to help understand the relationship between PTSD and chronic pain. It is possible that targeting pain-related acceptance, committed action, and cognitive fusion (among other processes) in the treatment of chronic pain may produce corresponding improvements in comorbid symptoms of PTSD when these are present and may reduce impacts of PTSD on outcomes of chronic pain. Conversely, targeting of these processes in the treatment of PTSD may produce similar

  4. The JAK2V617F and CALR exon 9 mutations are shared immunogenic neoantigens in hematological malignancy

    DEFF Research Database (Denmark)

    Holmstrom, Morten Orebo; Hasselbalch, Hans Carl; Andersen, Mads Hald

    2017-01-01

    Approximately 90% of patients with the hematological malignancies termed the chronic myeloproliferative neoplasms harbor either the JAK2V617F-mutation or CALR exon 9 mutation. Both of these are recognized by T-cells, which make the mutations ideal targets for cancer immune therapy as they are sha......Approximately 90% of patients with the hematological malignancies termed the chronic myeloproliferative neoplasms harbor either the JAK2V617F-mutation or CALR exon 9 mutation. Both of these are recognized by T-cells, which make the mutations ideal targets for cancer immune therapy...

  5. Prognostic model for chronic hypertension in women with a history of hypertensive pregnancy disorders at term.

    Science.gov (United States)

    Visser, V S; Hermes, W; Twisk, J; Franx, A; van Pampus, M G; Koopmans, C; Mol, B W J; de Groot, C J M

    2017-10-01

    The association between hypertensive pregnancy disorders and cardiovascular disease later in life is well described. In this study we aim to develop a prognostic model from patients characteristics known before, early in, during and after pregnancy to identify women at increased risk of cardiovascular disease e.g. chronic hypertension years after pregnancy complicated by hypertension at term. We included women with a history of singleton pregnancy complicated by hypertension at term. Women using antihypertensive medication before pregnancy were excluded. We measured hypertension in these women more than 2years postpartum. Different patients characteristics before, early in, during and after pregnancy were considered to develop a prognostic model of chronic hypertension at 2-years. These included amongst others maternal age, blood pressure at pregnancy intake and blood pressure six weeks post-partum. Univariable analyses followed by a multivariable logistic regression analysis was performed to determine which combination of predictors best predicted chronic hypertension. Model performance was assessed by calibration (graphical plot) and discrimination (area under the receiver operating characteristic (AUC)). Of the 305 women in who blood pressure 2.5years after pregnancy was assessed, 105 women (34%) had chronic hypertension. The following patient characteristics were significant associated with chronic hypertension: higher maternal age, lower education, negative family history on hypertensive pregnancy disorders, higher BMI at booking, higher diastolic blood pressure at pregnancy intake, higher systolic blood pressure during pregnancy and higher diastolic blood pressure at six weeks post-partum. These characteristics were included in the prognostic model for chronic hypertension. Model performance was good as indicated by good calibration and good discrimination (AUC; 0.83 (95% CI 0.75 - 0.92). Chronic hypertension can be expected from patient characteristics

  6. Chronic radiation-induced leukemogenesis: alterations of hematopoietic progenitor repair functions during preclinical phases

    International Nuclear Information System (INIS)

    Seed, T.M.; Kaspar, L.V.; Grdina, D.J.; Frazier, M.E.

    1987-01-01

    Chronic exposure to low daily doses of whole-body gamma irradiation elicits a high incidence of myeloid leukemia (ML) and related myeloproliferative diseases (MPD) in beagles. Previously, the authors identified and partially characterized a four-phase sequence of evolving MPD as a consequence of chronic radiation exposure. With a focus on preclinical alterations in granulocyte/monocyte-committed stem cells, they have identified two critical events in the process: (i) an early event, involving the coupling of acquired radioresistance of the stem cell with renewed proliferative capacity; and (ii) a late event, involving acquired autocrine functions and associated change in stem cell clonality. In terms of the early event, repair-associated parameters are currently being examined on the cellular level by both split-dose and low dose-rate-type assays with survival enhancement used as the measured end point. On the molecular level, these parameters are examined by microfluorometric alkaline elution assays with DNA damage and repair used as end points

  7. Exploring the Impact of Chronic Tic Disorders on Youth: Results from the Tourette Syndrome Impact Survey

    Science.gov (United States)

    Conelea, Christine A.; Woods, Douglas W.; Zinner, Samuel H.; Budman, Cathy; Murphy, Tanya; Scahill, Lawrence D.; Compton, Scott N.; Walkup, John

    2011-01-01

    Prior research has demonstrated that chronic tic disorders (CTD) are associated with functional impairment across several domains. However, methodological limitations, such as data acquired by parental report, datasets aggregated across child and adult samples, and small treatment-seeking samples, curtail interpretation. The current study explored…

  8. Determination of lactate dehydrogenase (LDH and Bcr-Abl transcript in the follow-up of patients with chronic myeloid leukemia - doi: 10.4025/actascihealthsci.v32i2.6408 Determination of lactate dehydrogenase (LDH and Bcr-Abl transcript in the follow-up of patients with chronic myeloid leukemia - doi: 10.4025/actascihealthsci.v32i2.6408

    Directory of Open Access Journals (Sweden)

    Thiago Cezar Fujita

    2010-09-01

    Full Text Available Chronic myeloid leukemia (CML is a malignant myeloproliferative disorder that originates from a pluripotent stem cell characterized by abnormal release of the expanded, malignant stem cell clone from the bone marrow into the bloodstream. The vast majority of patients with CML present Bcr-Abl transcripts. Lactate dehydrogenase (LDH is considered a biochemical marker common for tumor growth, anaerobic glycolysis and has been considered a poor prognostic factor for acute myeloid leukemia. Therefore, this study aimed to evaluate the concentration of LDH in plasma and the detection of the Bcr-Abl transcripts in patients with CML and healthy donors. We analyzed 22 patients demonstrably diagnosed with CML and 56 healthy donors. LDH concentration in plasma was higher in patients with CML. All patients with CML in this study were under treatment, but even so four patients had the Bcr-Abl (b3a2 transcript in peripheral blood. Two out of the four patients with b3a2 showed higher LDH (486 U L-1 and 589 U L-1. Thus, although the study was conducted with small numbers of samples, it is possible to suggest therapy alteration for two patients who presented transcript b3a2 in the peripheral blood samples and whose LDH concentration was high, in order to improve the disease.Chronic myeloid leukemia (CML is a malignant myeloproliferative disorder that originates from a pluripotent stem cell characterized by abnormal release of the expanded, malignant stem cell clone from the bone marrow into the bloodstream. The vast majority of patients with CML present Bcr-Abl transcripts. Lactate dehydrogenase (LDH is considered a biochemical marker common for tumor growth, anaerobic glycolysis and has been considered a poor prognostic factor for acute myeloid leukemia. Therefore, this study aimed to evaluate the concentration of LDH in plasma and the detection of the Bcr-Abl transcripts in patients with CML and healthy donors. We analyzed 22 patients demonstrably diagnosed

  9. The splenomegaly of myeloproliferative and lymphoproliferative disorders: splenic cellularity and vascularity

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, B (Capital Hospital, Peking University Medical College, Beijing (China)); Lewis, S.M. (Department of Haematology, Royal Postgraduate Medical School, London (UK))

    1989-01-01

    Employing radionuclide scanning, the volume of the spleen, its red cell pool and plasma pool have been measured in vivo, and the relative proportions of cellularity and vascularity of the spleen have been calcualted in 51 patients with myeloproliferactive and lymphoproliferative disorders. In primary proliferative polycythaemia (polycythaemia vera), the increase of spleen size was attributed mainly to the increase of splenic vascularity; in myelofibrosis and in hairy cell leukaemia, the increase of spleen size was associated with increase in both splenic vascularity and cellularity, whilst in size was associated with increase in both splenic vascularity and cellularity, whilst in CGL and CLL the increase was attributed more to cellularity than to vascularity. (author).

  10. Durability, Negative Impact, and Neuropsychological Predictors of Tic Suppression in Children with Chronic Tic Disorder

    Science.gov (United States)

    Woods, Douglas W.; Himle, Michael B.; Miltenberger, Raymond G.; Carr, James E.; Osmon, David C.; Karsten, Amanda M.; Jostad, Candice; Bosch, Amanda

    2008-01-01

    Chronic tic disorders are characterized by involuntary motor and vocal tics, which are influenced by contextual factors. Recent research has shown that (a) children can suppress tics for brief periods of time, (b) suppression is enhanced when programmed reinforcement is provided for tic-free intervals, and (c) short periods of suppression do not…

  11. Early Risk and Resiliency Factors Predict Chronic Posttraumatic Stress Disorder in Caregivers of Patients Admitted to a Neuroscience ICU.

    Science.gov (United States)

    Choi, Karmel W; Shaffer, Kelly M; Zale, Emily L; Funes, Christopher J; Koenen, Karestan C; Tehan, Tara; Rosand, Jonathan; Vranceanu, Ana-Maria

    2018-05-01

    posttraumatic stress disorder symptoms during admission is the single most important way to identify the majority of those likely to suffer from chronic posttraumatic stress disorder following discharge. Addressing early posttraumatic stress disorder symptoms and their psychosocial correlates during admission may help prevent chronic posttraumatic stress disorder in these at-risk caregivers.

  12. Anxiety in boys with attention-deficit/hyperactivity disorder with and without chronic multiple tic disorder.

    Science.gov (United States)

    Schneider, Jayne; Gadow, Kenneth D; Crowell, Judith A; Sprafkin, Joyce

    2009-12-01

    This study examined the psychosocial and behavioral concomitants of anxiety in clinic-referred boys with attention-deficit/hyperactivity disorder (ADHD) with and without chronic multiple tic disorder (CMTD). ADHD boys with (n = 65) and without (n = 94) CMTD were evaluated with measures of psychiatric symptoms, mental health risk factors, and academic and social performance. Boys with CMTD evidenced more severe anxiety and less social competence and were more likely to be living with only one biological parent than the ADHD Only group, but the magnitude of group differences was generally small. The severity of generalized anxiety, separation anxiety, social phobia, and obsessive-compulsive symptoms were uniquely associated with a different pattern of risk factors, and there was some evidence that these patterns differed for the two groups of boys. Boys with CMTD had a relatively more severe and complex pattern of anxiety that was associated with different clinical features, all of which suggests that ADHD plus CMTD might better be conceptualized as a distinct clinical entity from ADHD Only. However, findings from the extant literature are mixed, and therefore this remains a topic for further study.

  13. Chronic pain patients with possible co-morbid post-traumatic stress disorder admitted to multidisciplinary pain rehabilitation

    DEFF Research Database (Denmark)

    Andersen, Tonny Elmose; Andersen, Lou-Ann Christensen; Andersen, Per Grünwald

    2014-01-01

    BACKGROUND: Although post-traumatic stress disorder (PTSD) is a common co-morbidity in chronic pain, little is known about the association between PTSD and pain in the context of chronic pain rehabilitation. OBJECTIVE: The aim of the present study was two-fold: (1) to investigate the association......: A consecutively referred cohort of 194 patients completed a baseline questionnaire at admission covering post-traumatic stress, pain symptoms, physical and mental functioning, as well as self-reported sleep quality and cognitive difficulties. Medication use was calculated from their medical records. A total of 95...

  14. History of chronic inflammatory disorders increases the risk of Merkel cell carcinoma, but does not correlate with Merkel cell polyomavirus infection.

    Science.gov (United States)

    Sahi, Helka; Sihto, Harri; Artama, Miia; Koljonen, Virve; Böhling, Tom; Pukkala, Eero

    2017-01-17

    We aimed to assess the connection between chronic inflammatory disorders (CIDs) and Merkel cell carcinoma (MCC). Merkel cell carcinoma cases diagnosed in 1978-2009 were extracted from the Finnish Cancer Registry and controls from the Population Registry. Information on reimbursed CIDs was linked to clinicopathological data including Merkel cell polyomavirus (MCV) status by qPCR and immunohistochemistry for the large T antigen of MCV (LTA), Ki-67 and tumour-infiltrating lymphocytes. Chronic inflammatory disorders increased the risk of MCC significantly (odds ratio (OR) 1.39, 95% confidence interval (CI) 1.03-1.88), specifically connective tissue/systemic diseases (OR 1.75, 95% CI 1.09-1.80) and diabetic conditions (OR 1.51, 95% CI 1.03-2.22). Chronic inflammatory disorders associated with larger tumour diameter (P=0.02) and higher Ki-67 expression (P=0.005). The expression of LTA was seen significantly more often in the absence of CIDs (P=0.05). Patients with CID are at significantly higher risk for aggressive MCC. Merkel cell polyomavirus positivity is more common in MCC patients unafflicted by CID.

  15. Effect on health-related quality of life of a multimodal physiotherapy program in patients with chronic musculoskeletal disorders

    Directory of Open Access Journals (Sweden)

    Cuesta-Vargas Antonio Ignacio

    2013-02-01

    Full Text Available Abstract Background Musculoskeletal disorders are major causes of morbidity in the world, and these conditions have a strong negative influence in terms of health-related quality of life. The purpose of this study was to evaluate the effect of an 8-week multimodal physical therapy program on general health state and health-related quality of life in patients with chronic musculoskeletal disorders. Methods There were 244 participants in this prospective cohort analysis with 8-week follow-up. The primary outcome was general health state (physical and mental components, determined with the Short Form-12 Health Survey (SF-12. The secondary outcome was health related quality of life, determined with the EuroQoL-5D and VAS. The intervention was evaluated by comparing pre- and post-outcome measurements. T-tests were performed for paired data. Results Differences were statistically significant for physical health state: +1.68 (p  Conclusions Eight weeks of a Multimodal Physical Therapy Program seemed to moderately enhance the general health state and HRQoL of patients with chronic musculoskeletal diseases. This kind of therapeutic exercise can be recommended to patients with chronic low back pain, chronic neck pain and osteoarthritis, at least in the short term.

  16. Combat-related, chronic posttraumatic stress disorder: implications for group-therapy intervention.

    Science.gov (United States)

    Makler, S; Sigal, M; Gelkopf, M; Kochba, B B; Horeb, E

    1990-07-01

    The patient with combat-related chronic Posttraumatic Stress Disorder suffers from a wide spectrum of maladaptive behaviors. This paper delineates the work that has been done with such a population in group therapy. The plan that is proposed takes into account three interrelated sets of factors: factors important for creating an effective working relation; curative factors; and particular themes. Each of these factors is analyzed in the light of the particularities of group work with such a population. Each of the points discussed is based upon the relevant literature, upon the experience of the therapist, and illustrated with examples.

  17. A phenomenological investigation of women with Tourette or other chronic tic disorders.

    Science.gov (United States)

    Lewin, Adam B; Murphy, Tanya K; Storch, Eric A; Conelea, Christine A; Woods, Douglas W; Scahill, Lawrence D; Compton, Scott N; Zinner, Samuel H; Budman, Cathy L; Walkup, John T

    2012-07-01

    There are little data concerning clinical characteristics of women with Tourette disorder and chronic tic disorders in the extant literature and what is available mostly focuses on treatment-seeking individuals. The present research was conducted to provide a phenomenological characterization of tic disorders among 185 adult women with tic disorders. In addition to providing a descriptive overview of specific tic symptoms, tic severity, self-reported history of other psychiatric conditions, and impairment/lifestyle impact due to tics, this study compares 185 women and 275 men between 18 and 79 years old with tic disorders (who completed an identical battery of measures) based on demographic, social/economic status indicators, psychiatric variables (comorbidity, family psychiatric history, symptom presentation), adaptive functioning/quality of life, and impairment variables among a nonclinical adult sample. Finally, this research examines the relationship between tic severity and impairment indicators among women with tics. Sixty-eight percent of women in our sample reported severe motor tics and 40% reported severe phonic tics. Our exploratory data suggest that a sizeable number of adult women with persistent tics are suffering from psychiatric comorbidity and psychosocial consequences such as underachievement and social distress. Tic severity in women may be associated with lifestyle interference as well as with symptoms of depression and anxiety, and such symptoms may be more common among women with tics than in men with tics. Copyright © 2012 Elsevier Inc. All rights reserved.

  18. The relationship between chronic whiplash-associated disorder and post-traumatic stress: attachment-anxiety may be a vulnerability factor

    OpenAIRE

    Andersen, Tonny Elmose; Elklit, Ask; Vase, Lene

    2011-01-01

    Background: In more than 90% of whiplash accidents a good explanation regarding the association between trauma mechanism, organic pathology, and persistent symptoms has failed to be provided. Objective: We predicted that the severity of chronic whiplash-associated disorder (WAD), measured as number of whiplash symptoms, pain duration, pain-related disability, and degree of somatisation would be associated with the number of post-traumatic stress disorder symptoms (PTSD). Secondly, we expected...

  19. Association Between Chronic Tension-Type Headache Coexistent with Chronic Temporomandibular Disorder Pain and Limitations in Physical and Emotional Functioning: A Case-Control Study.

    Science.gov (United States)

    Emshoff, Rüdiger; Bertram, Felix; Schnabl, Dagmar; Emshoff, Iris

    2017-01-01

    To assess the association between chronic tension-type headache coexistent with chronic temporomandibular disorder (TMD) pain and severe limitations in physical and emotional functioning. Sample size estimation was used to determine that this case-control study should include 126 subjects. Subjects suffering from chronic TMD who were aged between 18 and 68 were recruited in routine clinical practice. Of the 126 included subjects, 63 had TMD pain associated with chronic tension-type headache (cases) and 63 had TMD pain without a history of tension-type headache (controls). Clinical diagnosis of TMD was made according to the Research Diagnostic Criteria for TMD (RDC/TMD) Axis I criteria, and clinical diagnosis of headache was made according to the International Classification of Headache (ICHD-II). RDC/TMD Axis II criteria were applied to record the scores from the Graded Chronic Pain Scale (GCPS) and the Symptoms Checklist-90-Revised Depression (SCL-DEP) and Somatization (SCL-SOM) scales. A logistic regression analysis was used to assess the relationship between TMD pain with chronic tension-type headache and high levels of depression and somatization severity as scored on the SCLDEP and SCL-SOM scales, respectively, and high pain-related disability (GCPS grade III or IV). Data were adjusted to take into account age, gender, time since TMD pain onset, chronic TMD pain intensity, and characteristic pain intensity. The presence of chronic tension-type headache was significantly associated with severe SCL-DEP (odds ratio [OR] = 7.2; P headache coexistent with chronic TMD pain and key aspects of physical and emotional functioning reflected in severe depression, severe somatization, and high pain-related disability.

  20. The mutation profile of JAK2, MPL and CALR in Mexican patients with Philadelphia chromosome-negative myeloproliferative neoplasms.

    Science.gov (United States)

    Labastida-Mercado, Nancy; Galindo-Becerra, Samantha; Garcés-Eisele, Javier; Colunga-Pedraza, Perla; Guzman-Olvera, Valeria; Reyes-Nuñez, Virginia; Ruiz-Delgado, Guillermo J; Ruiz-Argüelles, Guillermo J

    2015-03-01

    By using molecular markers, it is possible to gain information on both the classification and etiopathogenesis of chronic myeloproliferative neoplasias (MPN). In a group of 27 Mexican mestizo patients with MPNs, we studied seven molecular markers: the BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation, the MPL W515K mutation, and the calreticulin (CALR) exon 9 deletion or insertion. Patients with the BCR/ABL1 fusion gene were excluded. We studied 14 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary myelofibrosis (MF), and one with undifferentiated MPN. We found twelve individuals with the JAK2 V617F mutation; five of them had been clinically classified as PV, five as ET, and one as MF. One patient with the MPL W515L was identified with a clinical picture of ET. Five patients with the CALR mutation were identified, four ET and one MF. No individuals with either the MPL W515K mutation or the JAK2 exon 12 mutations were identified. The most consistent relationship was that between PV and the JAK2 V617F mutation (p=.01). Despite its small size, the study shows much less prevalence of JAK2 mutation in PV, ET and MF, which does not match international data. Copyright © 2015 King Faisal Specialist Hospital & Research Centre. Published by Elsevier B.V. All rights reserved.

  1. Quantitative EEG findings associated with chronic stimulant and cannabis abuse and ADHD in an adult male substance use disorder population.

    Science.gov (United States)

    Trudeau, D L; Thuras, P; Stockley, H

    1999-10-01

    QEEG was studied in a population of chronic male PSUD/ADHD (psychoactive substance use disorder/attention deficit hyperactivity disorder) subjects vs. a matched sample of non-ADHD subjects with PSUD. Our first interest in conducting this study was to determine if the Thatcher University of Maryland database and complex demodulation method could replicate the specific QEEG findings reported for cocaine and cannabis using the John-NYU database and Fourier Transform method. The effects of cannabis and stimulants were also studied both separately and together to see if there were interactions and to see if the QEEG changes associated with chronic stimulant dependence were predicted by childhood ADHD status. Eyes-closed QEEGs were obtained and two independent artifacted 60 second samples were compared for reliability. The Thatcher database was used to analyze QEEG data from 56 subjects with mixed substance use disorder. Results showed that the Thatcher database replicates the John database for chronic stimulant dependence findings. Because of confounding variables of alcohol and polysubstance abuse, the findings related to cannabis and stimulant interaction were difficult to assess. Cannabis and stimulant dependence together produced more QEEG changes than either alone. More right temporal abnormalities were observed with stimulant dependence. In the absence of stimulant use, the QEEG effects of cannabis were relatively small; however, sample selection and methods used precluded comparison to previous studies. The persistent QEEG abnormalities associated with chronic stimulant dependence were independent of ADHD status in this sample using the methods of this study. Further research is needed to clarify the relationship of stimulant dependence with QEEG changes and ADHD status, and to clarify the interactions of chronic stimulant and cannabis abuse on QEEG.

  2. Thrombocytosis and thrombosis.

    Science.gov (United States)

    Vannucchi, Alessandro M; Barbui, Tiziano

    2007-01-01

    The aim of this review is to discuss current diagnostic approaches to, and classification of, patients presenting with thrombocytosis, in light of novel information derived from the discovery of specific molecular abnormalities in chronic myeloproliferative disorders (CMPD), which represent the most common cause of primary thrombocytosis. The JAK2V617F and the MPLW515L/K mutations have been found in patients with essential thrombocythemia, polycythemia vera, and primary myelofibrosis, and less frequently in other myeloproliferative disorders complicated by thrombocytosis. However, neither mutation is disease specific nor is it universally present in patients with elevated platelet counts due to a CMPD; therefore, distinguishing between reactive and primary forms of thrombocytosis, as well as among the different clinical entities that constitute the CMPD, still requires a multifaceted diagnostic approach that includes as a key step the accurate evaluation of bone marrow histology. The role of elevated platelet counts in thrombosis, which represent the predominant complication of CMPD,significantly affecting prognosis and quality of life as well as, paradoxically, in the pathogenesis of the hemorrhagic manifestations, will be discussed. Established and novel potential risk factors for thrombosis, including the clinical relevance of the JAK2V617F mutation, and current management strategies for thrombocytosis are also briefly discussed.

  3. The role of obsessive-compulsive symptoms in the psychopathological profile of children with chronic tic disorder and attention-deficit hyperactivity disorder.

    Science.gov (United States)

    Roessner, Veit; Buse, Judith; Schultze, Finnja; Rothenberger, Aribert; Becker, Andreas

    2013-05-01

    The study examines the role of obsessive-compulsive symptoms (OCS) as a part of the psychopathology of children with chronic tic disorders (CTD) and/or attention-deficit hyperactivity disorder (ADHD). We assessed the psychopathology of four large patient groups without further psychiatric disorders: CTD (n = 112), CTD + ADHD (n = 82), ADHD (n = 129), and controls (n = 144)) by implementing the Child Behavior Checklist (CBCL). We compared the main effects for CTD and ADHD with and without including OCS as covariates. Including OCS led to substantially different main effects for CTD on seven out of eight CBCL subscales. Slightly different main effects for ADHD were determined with respect to ADHD, mainly on the subscale withdrawn. OCS are closely related to CTD-associated psychopathology and - to a lesser extent, but nevertheless of importance in daily clinical practice - on ADHD-related symptoms. This information can be helpful in implementing more precise diagnostics and treatment in daily routine care.

  4. Urological disorders in chronic kidney disease in children cohort: clinical characteristics and estimation of glomerular filtration rate.

    Science.gov (United States)

    Dodson, Jennifer L; Jerry-Fluker, Judith V; Ng, Derek K; Moxey-Mims, Marva; Schwartz, George J; Dharnidharka, Vikas R; Warady, Bradley A; Furth, Susan L

    2011-10-01

    Urological disorders are the most common cause of pediatric chronic kidney disease. We determined the characteristics of children with urological disorders and assessed the agreement between the newly developed bedside glomerular filtration rate estimating formula with measured glomerular filtration rate in 586 patients in the Chronic Kidney Disease in Children study. The Chronic Kidney Disease in Children study is a prospective, observational cohort of children recruited from 48 sites in the United States and Canada. Eligibility requirements include age 1 to 16 years and estimated glomerular filtration rate by original Schwartz formula 30 to 90 ml/min/1.73 m(2). Baseline demographics, clinical variables and glomerular filtration rate were assessed. Bland-Altman analysis was conducted to assess agreement between estimated and measured glomerular filtration rates. Of the 586 participants with at least 1 glomerular filtration rate measurement 348 (59%) had an underlying urological diagnosis (obstructive uropathy in 118, aplastic/hypoplastic/dysplastic kidneys in 104, reflux in 87 and other condition in 39). Among these patients median age was 9 years, duration of chronic kidney disease was 7 years and age at first visit with a urologist was less than 1 year. Of the patients 67% were male, 67% were white and 21% had a low birth weight. Median height was in the 24th percentile. Median glomerular filtration rate as measured by iohexol plasma disappearance was 44.8 ml/min/1.73 m(2). Median glomerular filtration rate as estimated by the Chronic Kidney Disease in Children bedside equation was 44.3 ml/min/1.73 m(2) (bias = -0.5, 95% CI -1.7 to 0.7, p = 0.44). Underlying urological causes of chronic kidney disease were present in 59% of study participants. These children were diagnosed early in life, and many had low birth weight and growth delay. There is good agreement between the newly developed Chronic Kidney Disease in Children estimating equations and measured

  5. Pericardial adipose tissue and the metabolic syndrome is increased in patients with chronic major depressive disorder compared to acute depression and controls.

    Science.gov (United States)

    Kahl, K G; Herrmann, J; Stubbs, B; Krüger, T H C; Cordes, J; Deuschle, M; Schweiger, U; Hüper, K; Helm, S; Birkenstock, A; Hartung, D

    2017-01-04

    Major depressive disorder (MDD) is associated with an estimated fourfold risk for premature death, largely attributed to cardiovascular disorders. Pericardial adipose tissue (PAT), a fat compartment surrounding the heart, has been implicated in the development of coronary artery disease. An unanswered question is whether people with chronic MDD are more likely to have elevated PAT volumes versus acute MDD and controls (CTRL). The study group consists of sixteen patients with chronic MDD, thirty-four patients with acute MDD, and twenty-five CTRL. PAT and adrenal gland volume were measured by magnetic resonance tomography. Additional measures comprised factors of the metabolic syndrome, cortisol, relative insulin resistance, and pro-inflammatory cytokines (interleukin-6; IL-6 and tumor necrosis factor-α, TNF-α). PAT volumes were significantly increased in patients with chronic MDD>patients with acute MDD>CTRL. Adrenal gland volume was slightly enlarged in patients with chronic MDD>acute MDD>CTRL, although this difference failed to reach significance. The PAT volume was correlated with adrenal gland volume, and cortisol concentrations were correlated with depression severity, measured by BDI-2 and MADRS. Group differences were found concerning the rate of the metabolic syndrome, being most frequent in chronic MDD>acute MDD>CTRL. Further findings comprised increased fasting cortisol, increased TNF-α concentration, and decreased physical activity level in MDD compared to CTRL. Our results extend the existing literature in demonstrating that patients with chronic MDD have the highest risk for developing cardiovascular disorders, indicated by the highest PAT volume and prevalence of metabolic syndrome. The correlation of PAT with adrenal gland volume underscores the role of the hypothalamus-pituitary-adrenal system as mediator for body-composition changes. Metabolic monitoring, health advices and motivation for the improvement of physical fitness may be recommended in

  6. Differences in maladaptive schemas between patients suffering from chronic and acute posttraumatic stress disorder and healthy controls

    Directory of Open Access Journals (Sweden)

    Ahmadian A

    2015-07-01

    Full Text Available Alireza Ahmadian,1,2 Jafar Mirzaee,1 Maryam Omidbeygi,1 Edith Holsboer-Trachsler,3 Serge Brand3,41Department of Psychology, Kharazmi University, 2Sadr Psychiatric Hospital, Janbazan Medical and Engineering Research Center (JMERC, Tehran, Iran; 3Psychiatric Clinics of the University of Basel, Center for Affective, Stress and Sleep Disorders, 4Department of Sport, Exercise and Health, Sport Science Section, University of Basel, Basel, Switzerland Background: War, as a stressor event, has a variety of acute and chronic negative consequences, such as posttraumatic stress disorder (PTSD. In this context, early maladaptive schema-based problems in PTSD have recently become an important research area. The aim of this study was to assess early maladaptive schemas in patients with acute and chronic PTSD.Method: Using available sampling methods and diagnostic criteria, 30 patients with chronic PTSD, 30 patients with acute PTSD, and 30 normal military personnel who were matched in terms of age and wartime experience were selected and assessed with the Young Schema Questionnaire-Long Form, Beck Depression Inventory second version (BDI-II, the Beck Anxiety Inventory (BAI, and the Impact of Events Scale (IES.Results: Both acute and chronic PTSD patients, when compared with normal military personnel, had higher scores for all early maladaptive schemas. Additionally, veterans suffering from chronic PTSD, as compared with veterans suffering from acute PTSD and veterans without PTSD, reported more impaired schemas related, for instance, to Self-Control, Social Isolation, and Vulnerability to Harm and Illness.Discussion: The results of the present study have significant preventative, diagnostic, clinical, research, and educational implications with respect to PTSD. Keywords: veterans, PTSD, depression, anxiety 

  7. Critical appraisal of the role of ruxolitinib in myeloproliferative neoplasm-associated myelofibrosis

    Directory of Open Access Journals (Sweden)

    Barosi G

    2015-05-01

    Full Text Available Giovanni Barosi,1 Vittorio Rosti,1 Robert Peter Gale2 1Center for the Study of Myelofibrosis, IRCCS Policlinico S Matteo Foundation, Pavia, Italy; 2Haematology Research Centre, Division of Experimental Medicine, Department of Medicine, Imperial College London, London, UK Abstract: The recent approval of molecular-targeted therapies for myeloproliferative neoplasm-associated myelofibrosis (MPN-MF has dramatically changed its therapeutic landscape. Ruxolitinib, a JAK1/JAK2 tyrosine kinase inhibitor, is now widely used for first- and second-line therapy in persons with MPN-MF, especially those with disease-related splenomegaly, intermediate- or high-risk disease, and constitutional symptoms. The goal of this work is to critically analyze data supporting use of ruxolitinib in the clinical settings approved by the US Food and Drug Administration (FDA and European Medicines Agency (EMA. We systematically reviewed the literature and analyzed the risk of biases in the two randomized studies (COMFORT I and COMFORT II on which FDA and EMA approval was based. Our strategy was to apply the Grading of Recommendation, Assessment, Development and Evaluation (GRADE approach by evaluating five dimensions of evidence: (1 overall risk of bias, (2 imprecision, (3 inconsistency, (4 indirectness, and (5 publication bias. Based on these criteria, we downgraded the evidence from the COMFORT I and COMFORT II trials for performance, attrition, and publication bias. In the disease-associated splenomegaly sphere, we upgraded the quality of evidence because of large effect size but downgraded it because of comparator choice and outcome indirectness (quality of evidence, low. In the sphere of treating persons with intermediate- or high-risk disease, we downgraded the evidence because of imprecision in effect size measurement and population indirectness. In the sphere of disease-associated symptoms, we upgraded the evidence because of the large effect size, but downgraded it

  8. Application of inhibitor JAK1 and JAK2 ruxolitinib as pre- and posttransplant therapy in patients with myelofibrosis

    Directory of Open Access Journals (Sweden)

    M. V. Barabanshchikova

    2016-01-01

    Full Text Available Primary myelofibrosis (PMF is а chronic BCRABL–negative myeloproliferative disorder with progressive clinical course. Allogeneic stem cell transplantation is the only treatment optionin patients with PMF with curative potential. Most of PMF patients have active disease phase at the moment of alloHSCT. The Januskinase inhibitor ruxolitinib is effective in decreasingof tumor mass before alloHSCT. Here we report our experience in administration of ruxolitinib as pre and posttransplant therapy of patients with PMF as well as patients with polycythemia vera and essential thrombocythaemia with transformation into myelofibrosis.

  9. Chloroma of the testis in a patient with a history of acute myeloid leukemia.

    Science.gov (United States)

    Sanei, Mohammad Hossein; Shariati, Matin

    2017-01-01

    Chloroma, or granulocytic sarcoma, is a rare extramedullary solid hematologic cancer, found concomitant with acute myeloid leukemia. It is infrequently associated with other myeloproliferative disorders or chronic myelogenous leukemia. Chloroma of the testis after allogeneic bone marrow transplantation is particularly sparsely represented in the literature. It is suggested that an appropriate panel of marker studies be performed along with clinical correlation and circumspection to avoid misleading conclusions. We report an interesting case of a 32-year-old male with a clinical history of acute myelogenous leukemia, postallogeneic peripheral blood stem cell transplantation that was found to have chloroma of the right testis.

  10. Pathophysiologic aspects of the development of cognitive disorders in chronic heart failure in elderly patients

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    M A Pokachalova

    2018-04-01

    Full Text Available The present literature review presents current views on pathophysiologic aspects of the formation and progression of cognitive disorders in chronic heart failure in elderly patients. Advanced age itself is an important predictor of the development of cardiovascular, neurodegenerative and other diseases. Involutive changes of cardiovascular system are known to potentiate the development of chronic heart failure. Heart failure in older people usually develops gradually. Formation of the cognitive deficit in heart disease is associated with chronic cerebral ischemia as well as a cascade of neurochemical processes occurring in the brain, eventually forming a vicious circle. Often the symptoms of cerebral ischemia due to reduced stroke volume occur much earlier than congestion signs in other organs and systems. Chronic cerebral ischemia that occurs due to violation of cerebral hemodynamics, is associated with both extracerebral and intracerebral causes, which in turn contributes to the development of chronic brain hypoxia and aggravation of cognitive dysfunction. Thus, the features of the development and course of disease in people of older age groups indicate that in geriatric practice existing diagnostic schemes are not always applicable. When observing patients of elderly and senile age with chronic heart failure, during the assessment of their condition and running diagnostic tests, special attention should be payed to the earliest detection of cognitive dysfunction signs in order to correct the patient's treatment and improve quality of life.

  11. Comparing the executive function of patients with schizophrenia, acute/chronic type I disorder (manic episode, and healthy controls on Wisconsin Card Sorting Test and Continuous Performance Test

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    Hossein Zare

    2017-05-01

    Full Text Available Introduction: From among various cognitive deficits, deficits in executive processes have an effective role in limiting the patients’ ability to retain, acquire, and re-learn the skills necessary for real-life performance. Thus, the present study aimed to compare the executive function of patients with schizophrenia, acute/chronic type I disorder, and the healthy group. Methods: The present research was an analytical-comparative study. The statistical population consisted of all the outpatients and inpatients with acute/chronic schizophrenia and acute/chronic type I disorder (manic episode visiting Shafa Psychiatric Hospital, Rasht, Iran. Using convenience sampling, 60 male subjects aging 18-49 years old were selected in 2014-2015. They were matched for the variables of sex, age, and education level. The Wisconsin Card Sorting Test, Continuous Performance Test, and Raven’s Progressive Matrices were administered, and the data were analyzed using MANOVA and Tukey post-hoc test. Results: A significant difference was observed between the acute/chronic schizophrenia group, acute/chronic type I disorder (manic episode, and healthy group on the two tests. Patients with schizophrenia had a weaker executive function and attention deficit compared to those with type I disorder and the healthy group (P0.05. Conclusion: Both schizophrenia and type I disorder patients show deficits in executive function and attention. However, the former group manifests higher impairment in cognitive activities, concept formation, cognitive flexibility, and attention deficit.

  12. Suicide in Tourette's and Chronic Tic Disorders.

    Science.gov (United States)

    Fernández de la Cruz, Lorena; Rydell, Mina; Runeson, Bo; Brander, Gustaf; Rück, Christian; D'Onofrio, Brian M; Larsson, Henrik; Lichtenstein, Paul; Mataix-Cols, David

    2017-07-15

    Persons with neuropsychiatric disorders are at increased risk of suicide, but there is little data concerning Tourette's and chronic tic disorders (TD/CTD). We aimed to quantify the risk of suicidal behavior in a large nationwide cohort of patients with TD/CTD, establish the contribution of psychiatric comorbidity to this risk, and identify predictors of suicide. Using a validated algorithm, we identified 7736 TD/CTD cases in the Swedish National Patient Register during a 44-year period (1969-2013). Using a matched case-cohort design, patients were compared with general population control subjects (1:10 ratio). Risk of suicidal behavior was estimated using conditional logistic regressions. Predictors of suicidal behavior in the TD/CTD cohort were studied using Cox regression models. In unadjusted models, TD/CTD patients, compared with control subjects, had an increased risk of both dying by suicide (odds ratio: 4.39; 95% confidence interval [CI]: 2.89-6.67) and attempting suicide (odds ratio: 3.86; 95% CI: 3.50-4.26). After adjusting for psychiatric comorbidities, the risk was reduced but remained substantial. Persistence of tics beyond young adulthood and a previous suicide attempt were the strongest predictors of death by suicide in TD/CTD patients (hazard ratio: 11.39; 95% CI: 3.71-35.02, and hazard ratio: 5.65; 95% CI: 2.21-14.42, respectively). TD/CTD are associated with substantial risk of suicide. Suicidal behavior should be monitored in these patients, particularly in those with persistent tics, history of suicide attempts, and psychiatric comorbidities. Preventive and intervention strategies aimed to reduce the suicidal risk in this group are warranted. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  13. The Evolving World of Chronic Kidney Disease Mineral Bone Disorder

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    Antonio Bellasi

    2013-07-01

    Full Text Available Chronic kidney disease – mineral and bone disorder (CKD-MBD is associated with a significant morbidity and mortality. In vitro and animal models suggest that phosphorous, calcium, parathyroid hormone, and vitamin D abnormalities, mediate the cardiovascular and bone diseases that characterise CKD-MBD and increase the risk of death. Currently, mineral abnormalities are corrected through phosphorous restriction, phosphate binders, calcimimetics and vitamin D administration. Nonetheless, data in humans that support the use of these compounds are still scarce, mainly based on observational studies. Thus, a considerable number of doubts and questions still challenge clinicians dealing with CKD patients and mineral metabolism imbalances. We herein critically review clinical evidence that support the use of different drugs in CKD-MBD.

  14. Molecular mechanisms of disorders of lipid metabolism in chronic kidney disease.

    Science.gov (United States)

    Moradi, Hamid; Vaziri, Nosratola D

    2018-01-01

    Chronic kidney disease (CKD) is a progressive condition marked by protracted kidney damage which over time can lead to end stage renal disease (ESRD). CKD can be categorized into different stages based on the extent of renal damage and degree of renal dysfunction with ESRD requiring renal replacement therapy considered the final stage. It is important to note that CKD in all of its forms is associated with accelerated atherosclerosis, cardiovascular (CV) disease and poor CV outcomes. While a number of factors contribute to the high risk of CV mortality in this patient population, dyslipidemia is considered to be a key player in the pathogenesis of CV disease in CKD. Molecular mechanisms responsible for CKD-associated lipid disorders are unique and greatly influenced by the stage of renal disease, presence and degree of proteinuria and in patients with ESRD, modality of renal replacement therapy. This article provides a detailed overview of the molecular mechanisms which cause dyslipidemia and the nature of lipid disorders associated with CKD and ESRD.

  15. Short-term sulpiride treatment of children and adolescents with Tourette syndrome or chronic tic disorder.

    Science.gov (United States)

    Ho, Che-Sheng; Chen, Hui-Ju; Chiu, Nan-Chang; Shen, Ein-Yiao; Lue, Hung-Chi

    2009-10-01

    Tourette syndrome (TS) is characterized by motor and vocal tics, and its diagnosis is based on clinical criteria. Dopamine-blocking neuroleptics are regarded as the most effective drugs for the treatment of TS. Sulpiride is a selective dopamine D2 antagonist. However, only one study with a large number of patients has reported the effect of treatment of TS with sulpiride. The purpose of this study was to evaluate prospectively the effect of sulpiride treatment of children and adolescents with TS or chronic tic disorder. The inclusion criteria were patients who fulfilled the diagnosis of TS or chronic tic disorder, and who had not received previous treatment. The severity of TS was assessed by the Yale Global Tic Severity Score (YGTSS) every 2 weeks for a total of 6 weeks. The patients started treatment with low-dose sulpiride according to their age on the first visit. The adverse effects of sulpiride were evaluated by subjective complaints from the patients themselves or their parents. The change in scores between each assessment point was analyzed by repeated measures one-way analysis of variance, with SPSS version 12.0 software. One hundred and eighty-nine patients were enrolled. Their average age was 8.0 +/- 2.5 years (range, 3-15 years). Most patients were male (n = 165, 87.3%). Six weeks' treatment significantly improved motor tics (p tics (p tic disorder, and has few adverse effects.

  16. Establishing the Feasibility of Direct Observation in the Assessment of Tics in Children with Chronic Tic Disorders

    Science.gov (United States)

    Himle, Michael B.; Chang, Susanna; Woods, Douglas W.; Pearlman, Amanda; Buzzella, Brian; Bunaciu, Liviu; Piacentini, John C.

    2006-01-01

    Behavior analysis has been at the forefront in establishing effective treatments for children and adults with chronic tic disorders. As is customary in behavior analysis, the efficacy of these treatments has been established using direct-observation assessment methods. Although behavior-analytic treatments have enjoyed acceptance and integration…

  17. Cognitive impairment in patients with chronic whiplash-associated disorder--a matched control study.

    Science.gov (United States)

    Antepohl, Wolfram; Kiviloog, Liisa; Andersson, Jan; Gerdle, Björn

    2003-01-01

    To verify the occurrence of cognitive impairment in patients with chronic whiplash-associated disorder (WAD) and to provide a more detailed description of the impairment's character and context. Thirty (30) patients with chronic WAD and 30 matched healthy controls completed a cognitive test battery. Four computerised tests were used: a) two different types of cognitive tasks (reaction time vs. working memory) and b) two types of information processing (verbal vs. spatial). Before testing and after every randomised subtest, subjects rated their pain level on a visual analogue scale. A worse overall performance among patients with WAD and, specifically, worse results concerning working memory tasks were found. Post-hoc testing revealed a statistically significant difference concerning the single variable "verbal reaction time". Pain intensity among patients increased significantly during testing. Pain intensity after the subtest for verbal mental reaction time (independent of test sequence) was significantly correlated with results in this subtest, the more pain, the more time was needed. Compared to healthy controls, patients performed worse overall. Concerning verbal reaction time, the impairment was correlated with pain intensity. The findings support the hypothesis that pain might be one important factor leading to cognitive impairment in patients with chronic WAD.

  18. Whole blood transcriptional profiling reveals deregulation of oxidative and antioxidative defence genes in myelofibrosis and related neoplasms. Potential implications of downregulation of Nrf2 for genomic instability and disease progression

    DEFF Research Database (Denmark)

    Hasselbalch, Hans Carl; Thomassen, Mads; Riley, Caroline Hasselbalch

    2014-01-01

    The Philadelphia-negative chronic myeloproliferative neoplasms - essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF) (MPNs) - have recently been shown to be associated with chronic inflammation, oxidative stress and accumulation of reactive oxygen species (ROS). Using...

  19. Oral disorders in patients with chronic renal failure. Narrative review

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    Carolina Hernández

    2016-02-01

    Full Text Available Chronic renal failure (CRF is one of the best known renal diseases. It is characterized by a deterioration in the overall renal function and is associated with other conditions such as hypertension, diabetes mellitus, uropathy, chronic glomerulonephritis and autoimmune diseases. Patients with CRF show alterations of the masticatory system that are specific to the disease and other type of disorders as a result of treatment. Oral health in dialysis and transplant patients tends to be poor, which makes them more likely to develop pathological conditions in the oral cavity, potentially increasing morbidity, mortality and affecting the quality of life of patients. Among the lesions we can find dysgeusia, periodontitis, candidiasis, gingival bleeding, petechiae, and joint alterations. Gingivitis and xerostomia associated to long-term use medications can cause oral lesions. Children with CRF show two oral conditions of interest: high incidence of dental anomalies and low caries activity. In patients receiving a kidney transplant, previous dental treatment is critical because the immune status of the patient will be affected not only by the toxemia, but by the immunosuppressive drugs used to prevent transplant rejection. Therefore, the dentist plays an important role in training parents and/or guardians, doctors and paramedics on the treatment of oral lesions in these patients

  20. Neurological Disorders in a Murine Model of Chronic Renal Failure

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    Jean-Marc Chillon

    2014-01-01

    Full Text Available Cardiovascular disease is highly prevalent in patients with chronic renal failure (CRF. However, data on the impact of CRF on the cerebral circulatory system are scarce—despite the fact that stroke is the third most common cause of cardiovascular death in people with CRF. In the present study, we examined the impact of CRF on behavior (anxiety, recognition and ischemic stroke severity in a well-defined murine model of CRF. We did not observe any significant increases between CRF mice and non-CRF mice in terms of anxiety. In contrast, CRF mice showed lower levels of anxiety in some tests. Recognition was not impaired (vs. controls after 6 weeks of CRF but was impaired after 10 weeks of CRF. Chronic renal failure enhances the severity of ischemic stroke, as evaluated by the infarct volume size in CRF mice after 34 weeks of CRF. Furthermore, neurological test results in non-CRF mice tended to improve in the days following ischemic stroke, whereas the results in CRF mice tended to worsen. In conclusion, we showed that a murine model of CRF is suitable for evaluating uremic toxicity and the associated neurological disorders. Our data confirm the role of uremic toxicity in the genesis of neurological abnormalities (other than anxiety.

  1. Pros and Cons of Medical Cannabis use by People with Chronic Brain Disorders

    Science.gov (United States)

    Suryadevara, Uma; Bruijnzeel, Dawn M.; Nuthi, Meena; Jagnarine, Darin A.; Tandon, Rajiv; Bruijnzeel, Adriaan W.

    2017-01-01

    Background: Cannabis is the most widely used illicit drug in the world and there is growing concern about the mental health effects of cannabis use. These concerns are at least partly due to the strong increase in recreational and medical cannabis use and the rise in tetrahydrocannabinol (THC) levels. Cannabis is widely used to self-medicate by older people and people with brain disorders such as amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), Alzheimer’s disease (AD), Parkinson’s disease (PD), bipolar disorder, and schizophrenia. Objective: This review provides an overview of the perceived benefits and adverse mental health effects of cannabis use in people with ALS, MS, AD, PD, bipolar disorder, and schizophrenia. Results: The reviewed studies indicate that cannabis use diminishes some symptoms associated with these disorders. Cannabis use decreases pain and spasticity in people with MS, decreases tremor, rigidity, and pain in people with PD, and improves the quality of life of ALS patients by improving appetite, and decreasing pain and spasticity. Cannabis use is more common among people with schizophrenia than healthy controls. Cannabis use is a risk factor for schizophrenia which increases positive symptoms in schizophrenia patients and diminishes negative symptoms. Cannabis use worsens bipolar disorder and there is no evidence that bipolar patients derive any benefit from cannabis. In late stage Alzheimer’s patients, cannabis products may improve food intake, sleep quality, and diminish agitation. Conclusion: Cannabis use diminishes some of the adverse effects of neurological and psychiatric disorders. However, chronic cannabis use may lead to cognitive impairments and dependence. PMID:27804883

  2. Living with tics: reduced impairment and improved quality of life for youth with chronic tic disorders.

    Science.gov (United States)

    McGuire, Joseph F; Arnold, Elysse; Park, Jennifer M; Nadeau, Joshua M; Lewin, Adam B; Murphy, Tanya K; Storch, Eric A

    2015-02-28

    Pharmacological and behavioral interventions have focused on reducing tic severity to alleviate tic-related impairment for youth with chronic tic disorders (CTDs), with no existing intervention focused on the adverse psychosocial consequences of tics. This study examined the preliminary efficacy of a modularized cognitive behavioral intervention ("Living with Tics", LWT) in reducing tic-related impairment and improving quality of life relative to a waitlist control of equal duration. Twenty-four youth (ages 7-17 years) with Tourette Disorder or Chronic Motor Tic Disorder and psychosocial impairment participated. A treatment-blind evaluator conducted all pre- and post-treatment clinician-rated measures. Youth were randomly assigned to receive the LWT intervention (n=12) or a 10-week waitlist (n=12). The LWT intervention consisted of up to 10 weekly sessions targeted at reducing tic-related impairment and developing skills to manage psychosocial consequences of tics. Youth in the LWT condition experienced significantly reduced clinician-rated tic-impairment, and improved child-rated quality of life. Ten youth (83%) in the LWT group were classified as treatment responders compared to four youth in the waitlist condition (33%). Treatment gains were maintained at one-month follow-up. Findings provide preliminary data that the LWT intervention reduces tic-related impairment and improves quality of life for youth with CTDs. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  3. Atypical chronic myeloid leukaemia: A case of an orphan disease-A multicenter report by the Polish Adult Leukemia Group.

    Science.gov (United States)

    Drozd-Sokołowska, Joanna; Mądry, Krzysztof; Waszczuk-Gajda, Anna; Biecek, Przemysław; Szwedyk, Paweł; Budziszewska, Katarzyna; Raźny, Magdalena; Dutka, Magdalena; Obara, Agata; Wasilewska, Ewa; Lewandowski, Krzysztof; Piekarska, Agnieszka; Bober, Grażyna; Krzemień, Helena; Stella-Hołowiecka, Beata; Kapelko-Słowik, Katarzyna; Sawicki, Waldemar; Paszkowska-Kowalewska, Małgorzata; Machowicz, Rafał; Dwilewicz-Trojaczek, Jadwiga

    2018-03-07

    Atypical chronic myeloid leukaemia (aCML) belongs to myelodysplastic/myeloproliferative neoplasms. Because of its rarity and changing diagnostic criteria throughout subsequent classifications, data on aCML are very scarce. Therefore, we at the Polish Adult Leukemia Group performed a nationwide survey on aCML. Eleven biggest Polish centres participated in the study. Altogether, 45 patients were reported, among whom only 18 patients (40%) fulfilled diagnostic criteria. Among misdiagnosed patients, myelodysplastic/myeloproliferative syndrome unclassifiable and chronic myelomonocytic leukaemia were the most frequent diagnoses. Thirteen patients were male, median age 64.6 years (range 40.4-80.9). The median parameters at diagnosis were as follows: white blood cell count 97 × 10 9 /L (23.8-342) with immature progenitors amounting at 27.5% (12-72), haemoglobin 8.6 g/dL (3.9-14.9), and platelet count 66 × 10 9 /L (34-833). Cytoreductive treatment was used in all patients, and 2 patients underwent allogeneic hematopoietic stem cell transplantation. The median overall survival was 14.1 months (95% CI, 7.2), with median acute myeloid leukaemia-free survival of 13.3 months (95% CI, 3.6-22.6). Cumulative incidence of acute myeloid leukaemia transformation after 1 year in aCML group was 12.5% (95% CI, 0%-29.6%). To conclude, aCML harbours a poor prognosis. Treatment options are limited, with allogeneic hematopoietic stem cell transplantation being the only curative method at present, although only a minority of patients are transplant eligible. Educational measures are needed to improve the quality of diagnoses. Copyright © 2018 John Wiley & Sons, Ltd.

  4. MPL mutations in myeloproliferative disorders

    DEFF Research Database (Denmark)

    Beer, Philip A.; Campbell, Peter J.; Scott, Linda M.

    2008-01-01

    Activating mutations of MPL exon 10 have been described in a minority of patients with idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET), but their prevalence and clinical significance are unclear. Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet c......DNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF. Allele-specific polymerase chain reaction was then used to genotype 776 samples from patients with ET entered into the PT-1 studies. MPL mutations were identified in 8.5% of JAK2 V617F......(-) patients and a single V617F(+) patient. Patients carrying the W515K allele had a significantly higher allele burden than did those with the W515L allele, suggesting a functional difference between the 2 variants. Compared with V617F(+) ET patients, those with MPL mutations displayed lower hemoglobin...

  5. Chronic Kidney Disease and Lipid Disorders.

    Science.gov (United States)

    Zubovic, Sandra Vegar; Kristic, Spomenka; Prevljak, Sabina; Pasic, Irmina Sefic

    2016-06-01

    Chronic kidney disease (CKD) represents a serious public health problem due to the increase in incidence and prevalence of this disease worldwide. Given the significant morbidity and mortality from cardiovascular disease (CVD) in the population of patients with CKD, and the fact that dyslipidemia itself is a risk factor for CVD, increases the importance of lipid metabolism study in patients with CKD. Evaluate the lipid status of patients with chronic kidney disease. A one-year prospective study included 150 adult patients who were in various stages of chronic renal failure (stage I to IV). Estimate of creatinine clearance was performed using Cockroft-Goult formula. The classification of patients according to stages of chronic renal insufficiency was performed in accordance with the criteria of Kidney Disease Outcomes Quality Initiative (K/DOQI). Of the total number of patients (N=150) there was 71 males and 79 females. The mean age of patients was 55.43 years. Average values of serum cholesterol were highest in patients with stage II renal disease and the lowest in patients classified as stage IV (5.76±1.60 mmol/L vs. 5.07±1.88 mmol/L). Analysis of the average value of triglycerides in blood show a slight increase through the stages of CKD in a manner that patients classified into stage I have low serum triglyceride levels (1.73±1.17 mmol/L (range 0.61 to 5.5 mmol/L), and patients classified in stage III the highest value 2.13±1.11 mmol/L (range 0.62 to 4.66 mmol/L). Average cholesterol levels does not statistically significantly change with progression of chronic renal disease. There is an almost linear increase in average triglyceride levels in chronic renal disease. Triglyceride levels in serum begins to increase in the early stage of chronic renal disease and reach the peak in stage IV.

  6. Relationship between stress and pain in work-related upper extremity disorders: the hidden role of chronic multisymptom illnesses.

    Science.gov (United States)

    Clauw, Daniel J; Williams, David A

    2002-05-01

    Pain and fatigue are commonly associated with work-related upper extremity disorders. Occasionally these symptoms persist beyond a reasonable healing period. One potential explanation for prolonged symptom expression is the concurrent development of a stress-mediated illness or CMI (Chronic Multi-Symptom Illness). In such a scenario, the chronic regional pain and other symptoms that the individual is experiencing would be attributable to the CMI rather than to tissue damage or a biomechanical dysfunction of the upper-extremity. This article critically reviews the case definitions of the new class of CMI disorders and evaluates the existing evidence supporting centrally mediated physiological changes (e.g., sensory hypervigilance, dysautonomia) that manifest as symptoms of pain and fatigue in some individuals experiencing chronic stressors. While explanations for prolonged pain and fatigue have historically focused on mechanisms involving peripheral pathology or psychiatric explanations, ample evidences support the role of altered Central Nervous System function in accounting for symptom manifestation in CMI. A model is presented that unites seemingly disparate findings across numerous investigations and provides a framework for understanding how genetics, triggering events, stressors, and early life events can affect CNS activity. Resultant symptom expression (e.g., pain and fatigue) from central dysregulation would be expected to occur in a subset of individuals in the population, including a subset of individuals with work-related upper extremity disorders. Thus when symptoms such as pain and fatigue persist beyond a reasonable period, consideration of CMI and associated assessment and interventions focused on central mechanisms may be worthwhile.

  7. Chronic Pain Among Homeless Persons with Mental Illness.

    Science.gov (United States)

    Vogel, Marc; Frank, Anastasia; Choi, Fiona; Strehlau, Verena; Nikoo, Nooshin; Nikoo, Mohammadali; Hwang, Stephen W; Somers, Julian; Krausz, Michael R; Schütz, Christian G

    2017-12-01

    Chronic pain is an important public health issue. However, characteristics and needs of marginalized populations have received limited attention. Studies on prevalence and correlates of chronic pain among homeless persons are lacking. We assessed chronic pain among homeless persons with mental illness in the At Home/Chez Soi study. Cross-sectional data from a randomized controlled trial on homelessness and mental health. Data collected between 2009 and 2013 in three Canadian cities. One thousand two hundred eighty-seven homeless persons with mental illness. Data on chronic pain and utilization of prescribed and nonprescribed interventions was assessed using a chronic pain screening instrument. Mental illness was diagnosed with the Mini-International Neuropsychiatric Interview. Forty-three percent reported moderate to severe chronic pain, interfering with general daily activities (80%), sleep (78%), and social interactions (61%). Multivariate analysis indicated that increasing age and diagnoses of major depressive disorder, mood disorder with psychotic features, panic disorder, and post-traumatic stress disorder (PTSD) were independent predictors of chronic pain. Chronic pain was further associated with increased suicidality. Among participants reporting chronic pain, 64% had sought medical treatment and 56% treated pain with prescribed drugs, while 38% used illicit drugs for pain relief. Chronic pain is very common among homeless persons with mental illness and affects activities of daily living. Clinicians treating this population should be aware of the common connections between chronic pain, depression, panic disorder, PTSD, and substance use. While the data indicate the contribution of chronic pain to complex treatment needs, they also indicate a clear treatment gap. © 2017 American Academy of Pain Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  8. Recognition and Management of Sleep-Disordered Breathing in Chronic Heart Failure

    Science.gov (United States)

    Kikta, Donald; Khayat, Rami

    2013-01-01

    It is increasingly recognized that sleep-disordered breathing (SDB) is a common modifiable risk factor for cardiovascular disease with significant impact on morbidity and potentially mortality. SDB is highly prevalent in patients with systolic or diastolic heart failure. A high index of suspicion is necessary to diagnose SDB in patients with heart failure because the vast majority of affected patients do not report daytime symptoms. Recent clinical trials have demonstrated improvement in heart function, exercise tolerance, and quality of life after treatment of SDB in patients with heart failure. Accumulating evidence suggests that treatment of SDB should complement the established pharmacologic therapy for chronic heart failure. However, mortality benefit has yet to be demonstrated. PMID:21086079

  9. BONE MARROW BIOPSY IN EVALUATION OF HAEMATOLOGICAL DISORDERS

    Directory of Open Access Journals (Sweden)

    Sandhya Rani Sahoo

    2017-04-01

    Full Text Available BACKGROUND Bone Marrow Trephine Biopsy (BMTB and aspiration is critical for diagnosis, prognostic evaluation and monitoring therapeutic response. BMTB is of greater value in assessing cellularity, degree of fibrosis, marrow architecture and especially when aspiration is dry tap. At the same time, it provides sample for immunohistochemistry. MATERIALSAND METHODS It is a single centre observational study conducted from July 2014 to July 2016 in Department of Pathology, S.C.B. Medical College, Cuttack, which included both cell block and touch imprint along with trephine biopsy. Cases selected where lymphoma studied for pattern and extent of infiltration. Aspiration with dry tap and selected cases of myeloproliferative disorders, myelodysplastic syndrome, leukaemia (both acute and chronic, anaemia, multiple myeloma were studied. Jamshidi needle was used for biopsy. Samples obtained were formalin preserved, kept in decalcification solution (Hammersmith protocol and H and E slides prepared. Special stain-like reticulin and Masson’s trichrome were used for grading of fibrosis. Immunohistochemistry was done on selected cases of lymphoma. RESULTS Out of total 100 cases studied, 60 were of haematopoietic and lymphoid neoplasms, 12 anaemia, 20 secondary metastasis, 8 miscellaneous (1 haemophagocytic lymphohistiocytic disease, 1 storage disease, 1 granulomatous and 5 ITP. CONCLUSION The study was conducted to establish the advantage of bone marrow biopsy in inadequate and failed aspiration, but both are complementary to each other and together provide a comprehensive evaluation of the bone marrow. Bone marrow fibrosis are well accessed and increased detection of tumour cells in suspected secondary metastasis. Special stains, IHC, cytogenetic study can be done over biopsy block.

  10. Cerebrospinal fluid volume depletion in chronic whiplash-associated disorders from motor vehicle-related spinal injuries

    International Nuclear Information System (INIS)

    Takeshita, Iwao; Ohta, Masaru; Samoto, Ken; Hamamura, Takeshi; Watanabe, Hideyuki

    2007-01-01

    To evaluate cerebrospinal fluid (CSF) volume depletion in chronic cases of whiplash-associated disorders, 111 In radioisotope (RI) cisternography, brain magnetic resonance imaging (MRI) and lumbar MR myelography were consecutively conducted on 460 individuals with chronic whiplash-associated disorders resulting from motor vehicle collision (Group A, n=225) and other traumatic injuries (Group B, n=57), spontaneous intracranial hypotension syndromes and other miscellaneous disorders (Group C, n=155), iatrogenic intracranial hypotension syndrome (Group D, n=11), and communicating hydrocephalus (Group E, n=12). Movement of intrathecally administered RI via a lumbar puncture was sequentially scanned at 1, 2 or 3, 5 and 24 hours. A whole body neuroaxis scanned figure showing high spinal parathecal activity at any time was considered to be a CSF leak, if small enough meningeal diverticula evidenced by MR myelography were present. Retention rate (%) of intrathecal RI for each scan was calculated using the formula: (whole body count-urinary bladder count)/whole body count (cpm) at 1 h x 100. All CSF leaks, although having single to multiple poles, were located in the spinal canal. CSF leakage was observed in 99/225 (44%), 24/57 (42%), 61/155 (39%), 9/11 (82%), and 4/12 (33%), in Groups A, B, C, D and E respectively. All CSF leakages was involved with the lumbar spine in Group A, although 20 cases extended to mid-thoracic levels. In Group A, spinal vertebrae were concomitantly injured in 7 cases (1 cervical spine dislocation, 1 cervical spine fracture, 2 thoracic and 1 lumbar compression fracture (s), and 2 lumbar disc hernia). CSF leakage for 2 cervical spine injuries was not at the injured site but at the lumbar spinal canal. CSF leakage limited to the lumbar spine involved 22 and 43 cases in groups B and C, respectively. Of all CSF leaks, 24 h retention rates less than 30% accounted for 90% of cases. In Group A, early CSF excretion and less than a 30% retention rate at 24

  11. Prevalence of maternal chronic diseases during pregnancy

    DEFF Research Database (Denmark)

    Jølving, Line Riis; Nielsen, Jan; Kesmodel, Ulrik Schiøler

    2016-01-01

    INTRODUCTION: There is substantial evidence of a negative impact of maternal chronic disease during pregnancy on reproductive outcomes. Knowledge of the prevalence of chronic diseases during pregnancy is limited, but essential for a focused preventive effort regarding optimal disease control during...... chronic diseases were chronic lung diseases/asthma (1.73%), thyroid disorders (1.50%) and anxiety and personality disorders (1.33%). Taking increasing maternal age at birth into account, the relative risk for women to have a chronic disease from 2009 to 2013 was 4.14 (95% CI 4.05-4.22), compared...

  12. Do SF-36 summary scores work as outcome measures in chronic functional disorders?

    DEFF Research Database (Denmark)

    Schröder, Andreas; Ørnbøl, Eva; Fink, Per

    controlled trial on cognitive behavioural therapy in patients with severe and chronic functional disorders. Based on a pilot study and baseline data, we have assessed the performance of the summary scores. Aim To demonstrate problems in the orthogonal factor solution for PCS and MCS and to assess other...... based on an oblique factor solution and the summary components from the RAND-36 HSI. Results Pilot study: Improvement on subscales of physical health was not reflected by the original PCS. The three methods showed different results with regard to individual changes over time. Baseline data: Surprisingly...

  13. Clinical Correlates and Mediators of Self-Concept in Youth with Chronic Tic Disorders.

    Science.gov (United States)

    Hanks, Camille E; McGuire, Joseph F; Lewin, Adam B; Storch, Eric A; Murphy, Tanya K

    2016-02-01

    This study investigated the clinical correlates and mediators of self-concept in youth with Chronic Tic Disorders (CTD). Ninety-seven youth aged 6-17 (M = 11.1 ± 2.89; 79.4 % male) with CTD were administered the Yale Global Tic Severity Scale, the Piers-Harris Children's Self-Concept Scale-Second Edition, and self-report and clinician-administered measures assessing behavioral and psychological difficulties and comorbid conditions. Youth with CTD had a slightly below average level of self-concept, with 20 % (n = 19) exhibiting low self-concept. Youth with CTD-only had greater self-concept relative to youth with CTD and obsessive-compulsive disorder (OCD) (p = 0.04) or CTD, OCD, and attention deficit hyperactivity disorder (ADHD) combined (p = 0.009). Medium-to-large-sized associations were observed between youth's self-concept and clinical characteristics (e.g., severity of ADHD, OCD and depressive symptoms). Youth's self-concept partially mediated the relationship between tic severity and depressive symptom severity, and the interaction between tic impairment and youth's reliance on avoidant coping strategies moderated youth's self-concept. Implications, limitations, and recommendations for future interventions are discussed.

  14. Evaluation of Flexible Force Sensors for Pressure Monitoring in Treatment of Chronic Venous Disorders.

    Science.gov (United States)

    Parmar, Suresh; Khodasevych, Iryna; Troynikov, Olga

    2017-08-21

    The recent use of graduated compression therapy for treatment of chronic venous disorders such as leg ulcers and oedema has led to considerable research interest in flexible and low-cost force sensors. Properly applied low pressure during compression therapy can substantially improve the treatment of chronic venous disorders. However, achievement of the recommended low pressure levels and its accurate determination in real-life conditions is still a challenge. Several thin and flexible force sensors, which can also function as pressure sensors, are commercially available, but their real-life sensing performance has not been evaluated. Moreover, no researchers have reported information on sensor performance during static and dynamic loading within the realistic test conditions required for compression therapy. This research investigated the sensing performance of five low-cost commercial pressure sensors on a human-leg-like test apparatus and presents quantitative results on the accuracy and drift behaviour of these sensors in both static and dynamic conditions required for compression therapy. Extensive experimental work on this new human-leg-like test setup demonstrated its utility for evaluating the sensors. Results showed variation in static and dynamic sensing performance, including accuracy and drift characteristics. Only one commercially available pressure sensor was found to reliably deliver accuracy of 95% and above for all three test pressure points of 30, 50 and 70 mmHg.

  15. Circulating YKL-40 in myelofibrosis a potential novel biomarker of disease activity and the inflammatory state

    DEFF Research Database (Denmark)

    Bjørn, Mads Emil; Andersen, Christen Lykkegaard; Jensen, Morten Krogh

    2014-01-01

    Chronic myeloproliferative neoplasms (MPN), encompassing essential thrombocythaemia (ET), polycythaemia vera (PV) and myelofibrosis (PMF), are featured by a chronic inflammatory state which is pronounced in myelofibrosis The value of YKL-40 as a biomarker of disease burden has been demonstrated i...

  16. 75 FR 76017 - Determination That GLEEVEC (Imatinib Mesylate) Capsules, 50 Milligrams and 100 Milligrams, Were...

    Science.gov (United States)

    2010-12-07

    ... initially approved on May 10, 2001. GLEEVEC is a protein-tyrosine kinase inhibitor used in the treatment of a variety of malignancies, including Ph+ chronic myeloid leukemia and acute lymphoblastic leukemia, myelodysplastic/myeloproliferative diseases, aggressive systemic mastocytosis, hypereosinophilic syndrome, chronic...

  17. [A Measure of Participation and Social Inclusion for Use in People with a Chronic Mental Disorder (F-INK)].

    Science.gov (United States)

    Schützwohl, Matthias; Souza, Paula M L; Rackel, Yvonne

    2017-03-01

    Objective To develop and test the psychometric properties of a measure of participation and social inclusion for individuals with a chronic mental disorder - the F-INK. Methods Within a cross-sectional design, mental health patients from different institutional settings (n = 106) and adults from the general population (n = 19) completed the questionnaire in an individual interview with a researcher. To estimate the reliability of two sum-scores on social inclusion and participation, Cronbach's α was computed. To appraise the validity, mean scale scores were compared across different study groups. Results For both scales, reliability was qualified as substantial (α > 0.70). Study groups showed expected differences in mean scores. Conclusion Preliminary findings suggest that the F-INK may be a useful tool for the assessment of social inclusion and social participation in individuals with a chronic mental disorder. However, further testing of the psychometric properties on a larger population is needed. © Georg Thieme Verlag KG Stuttgart · New York.

  18. ODD irritability is associated with obsessive-compulsive behavior and not ADHD in chronic tic disorders.

    Science.gov (United States)

    Thériault, Marie-Claude G; Lespérance, Paul; Achim, André; Tellier, Geneviève; Diab, Sabrina; Rouleau, Guy A; Chouinard, Sylvain; Richer, Francois

    2014-12-15

    Gilles de la Tourette syndrome (TS) and chronic tic disorder (CT) are often associated with a variety of behavioral comorbidities including attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive behavior (OCB), oppositional-defiant disorder (ODD) and temper outbursts. ODD is often associated with ADHD but its links to other symptoms of TS/CT is not as clear. This study examined whether the various symptoms of ODD were differentially linked to the various comorbidities in TS. A clinical sample of 135 children diagnosed with TS was evaluated through parent questionnaires and semi-structured interviews. Regressions and structural equation modeling confirmed that ODD is multidimensional in a TS/CT sample and showed that OCB was associated with the irritability symptoms of ODD whereas ADHD was associated with the Headstrong symptoms of ODD. Results suggest that increased attention to the different facets of ODD may help improve our understanding of emotional symptoms in TS/CT. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  19. Safety and efficacy of aripiprazole for the treatment of pediatric Tourette syndrome and other chronic tic disorders.

    Science.gov (United States)

    Cox, Joanna H; Seri, Stefano; Cavanna, Andrea E

    2016-01-01

    Tourette syndrome is a childhood-onset chronic tic disorder characterized by multiple motor and vocal tics and often accompanied by specific behavioral symptoms ranging from obsessionality to impulsivity. A considerable proportion of patients report significant impairment in health-related quality of life caused by the severity of their tics and behavioral symptoms and require medical intervention. The most commonly used medications are antidopaminergic agents, which have been consistently shown to be effective for tic control, but are also associated with poor tolerability because of their adverse effects. The newer antipsychotic medication aripiprazole is characterized by a unique mechanism of action (D2 partial agonism), and over the last decade has increasingly been used for the treatment of tics. We conducted a systematic literature review to assess the available evidence on the efficacy and safety of aripiprazole in pediatric patients with Tourette syndrome and other chronic tic disorders (age range: 4-18 years). Our search identified two randomized controlled trials (involving 60 and 61 participants) and ten open-label studies (involving between six and 81 participants). The majority of these studies used two validated clinician-rated instruments (Yale Global Tic Severity Scale and Clinical Global Impression scale) as primary outcome measures. The combined results from randomized controlled trials and open-label studies showed that aripiprazole is an effective, safe, and well-tolerated medication for the treatment of tics. Aripiprazole-related adverse effects (nausea, sedation, and weight gain) were less frequent compared to other antidopaminergic medications used for tic management and, when present, were mostly transient and mild. The reviewed studies were conducted on small samples and had relatively short follow-up periods, thus highlighting a need for further trials to assess the long-term use of aripiprazole in pediatric patients with Tourette syndrome

  20. Metabolic Disorder in Chronic Obstructive Pulmonary Disease (COPD) Patients: Towards a Personalized Approach Using Marine Drug Derivatives.

    Science.gov (United States)

    Lamonaca, Palma; Prinzi, Giulia; Kisialiou, Aliaksei; Cardaci, Vittorio; Fini, Massimo; Russo, Patrizia

    2017-03-20

    Metabolic disorder has been frequently observed in chronic obstructive pulmonary disease (COPD) patients. However, the exact correlation between obesity, which is a complex metabolic disorder, and COPD remains controversial. The current study summarizes a variety of drugs from marine sources that have anti-obesity effects and proposed potential mechanisms by which lung function can be modulated with the anti-obesity activity. Considering the similar mechanism, such as inflammation, shared between obesity and COPD, the study suggests that marine derivatives that act on the adipose tissues to reduce inflammation may provide beneficial therapeutic effects in COPD subjects with high body mass index (BMI).

  1. Pathological consequences of chronic low daily dose gamma irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Seed, T.M.; Miller, A.C.; Ramakrishnan, N. [Armed Forces Radiobiology Research Inst., Bethesda, MD (United States); Fritz, T.E.

    2000-07-01

    The quantitative relationships between the chronic radiation exposure parameters of dose-rate and total dose in relation to associated health risks was examined in dogs. At a dose-rate of 75, 128, and 263 mGy/d the incidence of acute lymphohematopoietic suppression (aplastic anemia) and associated septic complications was 73%, 87%, and 100%, respectively, and it increased in dose-dependent manner. By contrast, at dose-rates below 75 mGy/d, late cancers contributed significantly to the death of relatively long-lived animals, whose mean survival time was 1800 days. Myeloproliferative disease (MPD), mainly myeloid leukemia, was the dominant pathology seen at the higher daily dose-rates (18.8-75 mGy/d). When daily exposure was carried out continuously, the incidence of MPD was quite high. It should be noted that the induction radiation-induced MPD in this study was highly significant, because spontaneous MPD is exceedingly rare in the dog. However, when the daily dose-rate was reduced further or exposure was discontinued, the incidence of MPD declined significantly. At these lower dose-rates, solid tumors contributed heavily to the life-shortening effects of chronic irradiation. The induction and progression of these survival-compromising, late forms of pathology appeared to be driven by the degree of hematopoietic suppression that occurred early during the exposure phase, and in turn by the capacity of hematopoietic system to repair itself, recover, and to accommodate under chronic radiation stress. (K.H.)

  2. Anemia in Chronic Kidney Disease

    Science.gov (United States)

    ... artérielle Heart Disease Mineral & Bone Disorder Anemia in Chronic Kidney Disease What is anemia? Anemia is a condition in ... as they should. How is anemia related to chronic kidney disease? Anemia commonly occurs in people with chronic kidney ...

  3. Treatment Options for Chronic Myeloproliferative Neoplasms

    Science.gov (United States)

    ... factors affect prognosis (chance of recovery) and treatment options for primary myelofibrosis. Prognosis (chance of recovery ) depends ... factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia. Prognosis (chance of recovery ) and ...

  4. Treatment Option Overview (Chronic Myeloproliferative Neoplasms)

    Science.gov (United States)

    ... factors affect prognosis (chance of recovery) and treatment options for primary myelofibrosis. Prognosis (chance of recovery ) depends ... factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia. Prognosis (chance of recovery ) and ...

  5. General Information about Chronic Myeloproliferative Neoplasms

    Science.gov (United States)

    ... Treatment for information on diagnosis , staging , and treatment. Polycythemia Vera Key Points Polycythemia vera is a disease ... blood tests are used to diagnose polycythemia vera. Polycythemia vera is a disease in which too many ...

  6. Psychological interventions for mental health disorders in children with chronic physical illness: a systematic review.

    Science.gov (United States)

    Bennett, Sophie; Shafran, Roz; Coughtrey, Anna; Walker, Susan; Heyman, Isobel

    2015-04-01

    Children with chronic physical illness are significantly more likely to develop common psychiatric symptoms than otherwise healthy children. These children therefore warrant effective integrated healthcare yet it is not established whether the known, effective, psychological treatments for symptoms of common childhood mental health disorders work in children with chronic physical illness. EMBASE, MEDLINE, PsycINFO and CINAHL databases were searched with predefined terms relating to evidence-based psychological interventions for psychiatric symptoms in children with chronic physical illness. We included all studies (randomised and non-randomised designs) investigating interventions aimed primarily at treating common psychiatric symptoms in children with a chronic physical illness in the review. Two reviewers independently assessed the relevance of abstracts identified, extracted data and undertook quality analysis. Ten studies (209 children, including 70 in control groups) met the criteria for inclusion in the review. All studies demonstrated some positive outcomes of cognitive behavioural therapy for the treatment of psychiatric symptoms in children with chronic physical illness. Only two randomised controlled trials, both investigating interventions for symptoms of depression, were found. There is preliminary evidence that cognitive behavioural therapy has positive effects in the treatment of symptoms of depression and anxiety in children with chronic physical illness. However, the current evidence base is weak and fully powered randomised controlled trials are needed to establish the efficacy of psychological treatments in this vulnerable population. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  7. Biologics beyond TNF-α inhibitors and the effect of targeting the homologues TL1A-DR3 pathway in chronic inflammatory disorders

    DEFF Research Database (Denmark)

    Tougaard, Peter; Zervides, Kristoffer Alexander; Skov, Søren

    2016-01-01

    novel drugs that target TNF-α signaling are still being developed. Indeed, blockade of this pathway seems so important amongst immune-targets that TNF-α targeted therapies will continue to have a significant role in the treatment of chronic inflammation. However, up to 40% of RA and IBD patients do...... as a highly promising strategy for treatment of chronic inflammatory disorders....

  8. Previous Mental Disorders and Subsequent Onset of Chronic Back or Neck Pain: Findings From 19 Countries.

    Science.gov (United States)

    Viana, Maria Carmen; Lim, Carmen C W; Garcia Pereira, Flavia; Aguilar-Gaxiola, Sergio; Alonso, Jordi; Bruffaerts, Ronny; de Jonge, Peter; Caldas-de-Almeida, Jose Miguel; O'Neill, Siobhan; Stein, Dan J; Al-Hamzawi, Ali; Benjet, Corina; Cardoso, Graça; Florescu, Silvia; de Girolamo, Giovanni; Haro, Josep Maria; Hu, Chiyi; Kovess-Masfety, Viviane; Levinson, Daphna; Piazza, Marina; Posada-Villa, José; Rabczenko, Daniel; Kessler, Ronald C; Scott, Kate M

    2018-01-01

    Associations between depression/anxiety and pain are well established, but its directionality is not clear. We examined the associations between temporally previous mental disorders and subsequent self-reported chronic back/neck pain onset, and investigated the variation in the strength of associations according to timing of events during the life course, and according to gender. Data were from population-based household surveys conducted in 19 countries (N = 52,095). Lifetime prevalence and age of onset of 16 mental disorders according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, and the occurrence and age of onset of back/neck pain were assessed using the Composite International Diagnostic Interview. Survival analyses estimated the associations between first onset of mental disorders and subsequent back/neck pain onset. All mental disorders were positively associated with back/neck pain in bivariate analyses; most (12 of 16) remained so after adjusting for psychiatric comorbidity, with a clear dose-response relationship between number of mental disorders and subsequent pain. Early-onset disorders were stronger predictors of pain; when adjusting for psychiatric comorbidity, this remained the case for depression/dysthymia. No gender differences were observed. In conclusion, individuals with mental disorder, beyond depression and anxiety, are at higher risk of developing subsequent back/neck pain, stressing the importance of early detection of mental disorders, and highlight the need of assessing back/neck pain in mental health clinical settings. Previous mental disorders according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition are positively associated with subsequent back/neck pain onset, with a clear dose-response relationship between number of mental disorders and subsequent pain. Earlier-onset mental disorders are stronger predictors of subsequent pain onset, compared with later-onset disorders

  9. Chronic depression : Determinants and consequences of chronic major depression in the general population

    NARCIS (Netherlands)

    Spijker, Jan

    2002-01-01

    The subject of this thesis is chronicity of major depressive disorder (MDD). The main aims of the study are to examine: 1. the duration of a major depressive episode (MDE) and the rate of a chronic duration of MDE in the general population, 2. the determinants of (chronic) duration of

  10. Analysis of genomic aberrations and gene expression profiling identifies novel lesions and pathways in myeloproliferative neoplasms

    International Nuclear Information System (INIS)

    Rice, K L; Lin, X; Wolniak, K; Ebert, B L; Berkofsky-Fessler, W; Buzzai, M; Sun, Y; Xi, C; Elkin, P; Levine, R; Golub, T; Gilliland, D G; Crispino, J D; Licht, J D; Zhang, W

    2011-01-01

    Polycythemia vera (PV), essential thrombocythemia and primary myelofibrosis, are myeloproliferative neoplasms (MPNs) with distinct clinical features and are associated with the JAK2V617F mutation. To identify genomic anomalies involved in the pathogenesis of these disorders, we profiled 87 MPN patients using Affymetrix 250K single-nucleotide polymorphism (SNP) arrays. Aberrations affecting chr9 were the most frequently observed and included 9pLOH (n=16), trisomy 9 (n=6) and amplifications of 9p13.3–23.3 (n=1), 9q33.1–34.13 (n=1) and 9q34.13 (n=6). Patients with trisomy 9 were associated with elevated JAK2V617F mutant allele burden, suggesting that gain of chr9 represents an alternative mechanism for increasing JAK2V617F dosage. Gene expression profiling of patients with and without chr9 abnormalities (+9, 9pLOH), identified genes potentially involved in disease pathogenesis including JAK2, STAT5B and MAPK14. We also observed recurrent gains of 1p36.31–36.33 (n=6), 17q21.2–q21.31 (n=5) and 17q25.1–25.3 (n=5) and deletions affecting 18p11.31–11.32 (n=8). Combined SNP and gene expression analysis identified aberrations affecting components of a non-canonical PRC2 complex (EZH1, SUZ12 and JARID2) and genes comprising a ‘HSC signature' (MLLT3, SMARCA2 and PBX1). We show that NFIB, which is amplified in 7/87 MPN patients and upregulated in PV CD34+ cells, protects cells from apoptosis induced by cytokine withdrawal

  11. [Rome III classification of functional gastrointestinal disorders in children with chronic abdominal pain].

    Science.gov (United States)

    Plocek, Anna; Wasowska-Królikowska, Krystyna; Toporowska-Kowalska, Ewa

    2010-01-01

    The updated Rome III Classification of paediatric functional gastrointestinal disorders (FGIDs) associated with abdominal pain comprises: functional dyspepsia (FD), irritable bowel syndrome (IBS), abdominal migraine, functional abdominal pain (FAP), functional abdominal pain syndrome (FAPS). To assess the value of the Rome criteria in identifying FGIDs in children with chronic abdominal pain. The study group consisted of 439 consecutive paediatric patients (192 boys and 247 girls) aged 4-18 years (mean age was 11.95 +/- 3.89 years) referred to the Paediatric Gastroenterology Department at Medical University of Lodz from January 2008 to June 2009 for evaluation of abdominal pain of at least 2 months' duration. After exclusion of organic disease children suspected of functional chronic abdominal pain were categorized with the use of Rome III criteria of FGIDs associated with abdominal pain (H2a-H2d1) and the Questionnaire on Paediatric Gastrointestinal Symptoms (with the permission of doctor L. S. Walker). The patients with known nonabdominal organic disease, chronic illness or handicap were excluded. In 161 patients (36.58%) organic etiology was confirmed. Of the 278 children (63.42%) with functional chronic abdominal pain, 228 (82.02%) met the Rome III criteria for FGIDs associated with abdominal pain (FD, 15.5%; IBS, 21.6%; abdominal migraine, 5%; FAP 24.5%; FAPS, 15.9%). Fifty cases (17.98%) did not fulfill the criteria for subtypes of abdominal pain-related FGIDs--mainly due to different as defined by Rome III criteria (at least once per week) frequency of symptom presentation. (1) In the authors'investigations FGIDs was the most frequent cause of chronic abdominal pain in children. (2) The significant number of children with nonclassified FGIDs implies the need to modify the diagnostic criteria of Rome III classification concerning the prevalence of symptoms.

  12. Oppositional behavior and longitudinal predictions of early adulthood mental health problems in chronic tic disorders.

    Science.gov (United States)

    Thériault, Marie-Claude G; Bécue, Jean-Cyprien; Lespérance, Paul; Chouinard, Sylvain; Rouleau, Guy A; Richer, Francois

    2018-03-16

    Chronic tic disorders (TD) are associated with a number of psychological problems such as attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive behavior (OCB), oppositional-defiant disorder (ODD) as well as anxious and depressive symptoms. ODD is often considered a risk factor for many psychological symptoms and recent work suggests that different ODD dimensions show independent predictions of later psychological problems. This study examined the longitudinal predictions between ODD dimensions of Irritability and Defiance and the most frequent comorbidities in TD from childhood to early adulthood. From an initial sample of 135, parent reports were obtained on 58 participants with TD using standard clinical questionnaires and semi-structured interviews. Defiance symptoms decreased from baseline to follow-up whereas Irritability symptoms were more stable over time. In multiple regressions, Irritability in childhood predicted anxiety and OCB in early adulthood while Defiance in childhood predicted ADHD and conduct disorder symptoms in early adulthood. No developmental link was found for depressive symptoms. Results indicate that ODD dimensions are developmentally linked to both internalizing and externalizing adult mental health symptoms in TD. Copyright © 2018. Published by Elsevier B.V.

  13. Perception of family caregivers about barriers of leisure in care of individuals with chronic psychiatric disorders: a qualitative study

    Science.gov (United States)

    Mandani, Batool; Hosseini, Mohammad Ali; Noori, Ashraf Karbalaie; Ardakani, Mohammad Reza Khodaie

    2018-01-01

    Background Family caregivers of individuals with chronic psychiatric disorders play an important role in the management of the patient’s conditions, which interferes with other activities of daily living, work, social and leisure activities. Objective This study was conducted in an Iranian context to explore the perception of family caregivers about barriers of leisure in care of individuals with chronic psychiatric disorders. Methods The current qualitative study was conducted on the basis of conventional content analysis. Participants were 15 family caregivers of individuals with chronic psychiatric disorders who were selected by Purposeful sampling method between July 2016 and March 2017 in Tehran, Iran. The data was collected via in-depth semi-structured interviews. The interviews were tape recorded, written and transcribed. Then, data were analyzed by inductive content analysis method. Results Data analysis led to extraction of 3 main categories and 10 sub categories. Obstacles to leisure-time of family caregivers have been placed in three main categories which are patient-related factors (Resentment from psychological problems, Resentment from behavioral problems, Need for continuous monitoring and access), caregiver-related factors (Physical harm, Psychosocial harm, Temporal stress, Accumulation of responsibilities, Concerns), and community-related factors (Feeling of sympathy and rejection, Social stigma). Conclusion Understanding the barriers of leisure in this group of family caregivers has contributed to understanding the family caregivers’ perception in this area and regarding their leisure, it can provide a broader perspective to mental health therapists, rehabilitation managers and policy makers for understanding the needs, addressing the challenges and barriers of this group of family caregivers. PMID:29765577

  14. Chloroma of the testis in a patient with a history of acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Mohammad Hossein Sanei

    2017-01-01

    Full Text Available Chloroma, or granulocytic sarcoma, is a rare extramedullary solid hematologic cancer, found concomitant with acute myeloid leukemia. It is infrequently associated with other myeloproliferative disorders or chronic myelogenous leukemia. Chloroma of the testis after allogeneic bone marrow transplantation is particularly sparsely represented in the literature. It is suggested that an appropriate panel of marker studies be performed along with clinical correlation and circumspection to avoid misleading conclusions. We report an interesting case of a 32-year-old male with a clinical history of acute myelogenous leukemia, postallogeneic peripheral blood stem cell transplantation that was found to have chloroma of the right testis.

  15. Splanchnic vein thrombosis as a first manifestation of Primary myelofibrosis

    Science.gov (United States)

    Campos-Cabrera, Gregorio; Campos-Cabrera, Virginia; Campos-Cabrera, Salvador; Campos-Villagómez, José-Luis; Romero-González, Alejandra

    2017-01-01

    Myeloproliferative neoplasms are chronic disorders of clonal hematopoietic stem cells, characterized by an overproduction of functional granulocytes, red blood cells and / or platelets, and one of the major complications is the occurrence of venous and arterial thrombotic problems caused by increased platelet aggregation and thrombin generation. In this study 11 cases of primary myelofibrosis (PM) were evaluated and 2 debuted with splanchnic venous thrombosis (SVT); so after seeing the results of this study and of world literature, it is suggested that in patients with SVT, diagnostic methods for PM like the JAK2V617F mutation should be included. Copyright: © 2017 SecretarÍa de Salud

  16. The metabolic syndrome and risk of coronary artery disease in patients with chronic schizophrenia or schizoaffective disorder in a chronic mental institute

    Directory of Open Access Journals (Sweden)

    Ping-Tao Tseng

    2014-11-01

    Full Text Available The prevalence rate of metabolic syndrome (MS and coronary artery disease (CAD has been found to be high in patients with chronic schizophrenia. Current evidence shows that CAD is underdiagnosed in this group. Our study evaluated the prevalence of MS and the risk of CAD in patients with chronic schizophrenia in a chronic care mental hospital in southern Taiwan. We included all patients with the diagnosis of schizophrenia or schizoaffective disorder. We collected all laboratory, physical examination, psychiatric interview, and chart review data. We also evaluated the risk of CAD in these patients using the Framingham point system. There was no significant age difference in the MS prevalence rate in these patients. The young patients with schizophrenia in our study tended to have a higher prevalence of MS than the general population. In addition, female patients had a higher prevalence rate of MS than males. Based on the Framingham point system, we found the 10-year risk of CAD to be higher among the patients with schizophrenia than in the general population. Our study highlights the importance of the high risk of MS in both younger and older patients with schizophrenia, without a significant relationship to the use of antipsychotics. More complete cohort studies are needed to confirm these findings. Psychiatrists may want to establish more specific and detailed clinical guidelines for patients with chronic schizophrenia with comorbid physical diseases, especially MS and CAD.

  17. Vascular events in Korean patients with myeloproliferative neoplasms and their relationship to JAK2 mutation.

    Science.gov (United States)

    Bang, Soo-Mee; Lee, Jong-Seok; Ahn, Jeong Yeal; Lee, Jae Hoon; Hyun, Myung Soo; Kim, Bong Seog; Park, Moo Rim; Chi, Hyun-Sook; Kim, Ho Young; Kim, Hyo Jung; Lee, Moon Hee; Kim, Hwak; Won, Jong Ho; Yoon, Hwi Joong; Oh, Do-Yeun; Nam, Eun-Mi; Bae, Sung Hwa; Kim, Byoung-Kook

    2009-03-01

    Evaluation of the Janus kinase 2 (JAK2) V617F mutation has been widely used for the diagnosis of myeloproliferative neoplasms (MPN). However, its prognostic relevance to clinical outcome is not completely understood. We investigated the association of JAK2 V617F with vascular events in Korean patients with myeloproliferative neoplasms (MPN). We studied 283 patients from 15 centers, who were diagnosed with MPN. The JAK2 V617F status was evaluated by allele-specific polymerase chain reaction (PCR) and sequencing. The patients' diagnoses were essential thrombocythemia (ET n = 146), polycythemia vera (PV n = 120), primary myelofibrosis (n = 12), and unclassifiable MPN (MPNu n = 5). JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu. A higher number of leukocytes, haemoglobin levels and BM cellularity as well as an older age, lower platelet counts, and diagnosis of PV were significantly correlated with JAK2 V617F. Eighty-three and 43 episodes of thrombosis and bleeding occurred in 100 patients each before and after the diagnosis. Vascular events more frequently occurred in 37% of patients with JAK2 V617F than in 29% of those without the mutation (p = 0.045). Among 175 patients whose samples were available for sequencing, 28 patients with homozygous JAK2 V617F had vascular events more frequently (57%) than those who were heterozygotes (39%) or had the wild type (27%) (p = 0.03). The multivariate analysis showed that a JAK2 homozygous mutation, hypercholesterolemia and older age were independent risk factors for a vascular event. The results of this study showed that Korean patients with MPN had a similar JAK2 mutation rate and frequency of vascular events when compared to Western patients. The presence of V617F was significantly related to vascular events. Therefore, initial evaluation for the JAK2 mutation and careful monitoring for vascular events should be performed in MPN patients.

  18. JAK2 46/1 haplotype is associated with JAK2 V617F--positive myeloproliferative neoplasms in Brazilian patients.

    Science.gov (United States)

    Macedo, L C; Santos, B C; Pagliarini-e-Silva, S; Pagnano, K B B; Rodrigues, C; Quintero, F C; Ferreira, M E; Baraldi, E C; Ambrosio-Albuquerque, E P; Sell, A M; Visentainer, J E L

    2015-10-01

    This study aimed to verify the association between the JAK2 46/1 haplotype (V617F positive) and some hematological parameters in BCR-ABL-negative chronic myeloproliferative neoplasms (cMPNs) in our population. The blood samples obtained from the patients with cMPN were genotyped for the JAK2 V617F mutation and JAK2 rs10974944 SNP screening using a PCR-RFLP assay. The JAK2 V617F mutation was detected in 80.15% of patients. The G variant of rs10974944 was more frequent in all MPNs, especially those that were JAK2 V617F positive, than in the control population. We also compared the 46/1 haplotype status in each MPN disease entity, polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), and MPNu with controls. The G allele frequency relative to controls was significantly enriched in patients with PV and ET, but not in those with PMF and MPNu. PV and ET patients especially, all of whom had the JAK2 V617F mutation, showed significant excess of the G allele. The frequency of JAK2 V617F mutation was associated with elevated hematological parameters, but when we analyze the occurrence of the mutation and the presence of the G allele, just the high hemoglobin was significantly. In agreement with previous reports, JAK2 46/1 haplotype for JAK2 V617F was associated with cMPN positive in Brazilian patients. © 2015 John Wiley & Sons Ltd.

  19. Neuropathological Changes and Clinical Features of Autism Spectrum Disorder Participants Are Similar to that Reported in Congenital and Chronic Cerebral Toxoplasmosis in Humans and Mice

    Science.gov (United States)

    Prandota, Joseph

    2010-01-01

    Anatomic, histopathologic, and MRI/SPET studies of autistic spectrum disorders (ASD) patients' brains confirm existence of very early developmental deficits. In congenital and chronic murine toxoplasmosis several cerebral anomalies also have been reported, and worldwide, approximately two billion people are chronically infected with T. "gondii"…

  20. Chronic physical illness, psychiatric disorder and disability in the workplace.

    Science.gov (United States)

    Dewa, C S; Lin, E

    2000-07-01

    While agreement is growing that mental illness burdens the North American economy, how it impacts productivity--particularly compared to physical illness--is unclear. Hypothesizing that lost work days are only the tip of the iceberg, we also examined the association of mental and chronic physical illness with partial work days and days requiring extra effort to function. Data from 4225 employed individuals, aged 18-54, were analyzed. These were a subset of respondents to the Ontario Health Survey's Mental Health Supplement, a 1990/91 epidemiologic survey of households across Ontario, Canada. Psychiatric disorder was assessed using the University of Michigan' modification of WHO's Composite International Diagnostic Interview (UM-CIDI). Similar to US reports, professional/managerial groups had lower rates of affective and anxiety disorders and fewer disability days compared to the rest of the workforce. However, no single occupational group was consistently at greater risk for either physical or psychiatric problems. Even after accounting for sociodemographic characteristics and work conditions, mental and physical status had clear, but different, impacts on productivity. Physical conditions alone had a fairly constant effect across all types of disability days and were the largest contributor to total work day loss. They also significantly impacted partial and extra effort days but were far less important than conditions involving a mental disorder. Respondents with mental health problems, either alone or in combination with physical illnesses, appeared more likely to go to work but to require greater effort to function. WHO projects that mental illness will become the second most important cause of global disease burden in the next century. Our findings suggest that among working individuals, it affects productivity more subtly than does physical illness. However, with an estimated eight percent of Ontario's workforce experiencing more than two months annually of

  1. Mood and Anxiety Disorders in Chronic Fatigue Syndrome, Fibromyalgia, and Irritable Bowel Syndrome : Results From the LifeLines Cohort Study

    NARCIS (Netherlands)

    Janssens, Karin A. M.; Zijlema, Wilma L.; Joustra, Monica L.; Rosmalen, Judith G. M.

    Objective: Functional somatic syndromes (FSSs) have often been linked to psychopathology. The aim of the current study was to compare prevalence rates of psychiatric disorders among individuals with chronic fatigue syndrome (CFS), fibromyalgia (FM), and irritable bowel syndrome (IBS). Methods: This

  2. Alcohol abuse and dependence criteria as predictors of a chronic course of alcohol use disorders in the general population

    NARCIS (Netherlands)

    de Bruijn, Carla; van den Brink, Wim; de Graaf, Ron; Vollebergh, Wilma A. M.

    2005-01-01

    Aims: To investigate whether DSM-IV abuse and dependence criteria and the ICD-10 criterion for craving differentially predict a chronic course of alcohol use disorders (AUD) in the general population. Methods: Data were derived from the Netherlands Mental Health Survey and Incidence Study, a large

  3. Chronic Pain and Chronic Stress: Two Sides of the Same Coin?

    Science.gov (United States)

    Abdallah, Chadi G; Geha, Paul

    2017-02-01

    Pain and stress share significant conceptual and physiological overlaps. Both phenomena challenge the body's homeostasis and necessitate decision-making to help animals adapt to their environment. In addition, chronic stress and chronic pain share a common behavioral model of failure to extinguish negative memories. Yet, they also have discrepancies such that the final brain endophenotype of posttraumatic stress disorder, depression, and chronic pain appears to be different among the three conditions, and the role of the hypothalamic-pituitary-adrenal axis remains unclear in the physiology of pain. Persistence of either stress or pain is maladaptive and could lead to compromised well-being. In this brief review, we highlight the commonalities and differences between chronic stress and chronic pain, while focusing particularly on the central role of the limbic brain. We assess the current attempts in the field to conceptualize and understand chronic pain, within the context of knowledge gained from the stress literature. The limbic brain-including hippocampus, amygdala, and ventromedial pre-frontal cortex-plays a critical role in learning. These brain areas integrate incoming nociceptive or stress signals with internal state, and generate learning signals necessary for decision-making. Therefore, the physiological and structural remodeling of this learning circuitry is observed in conditions such as chronic pain, depression, and posttraumatic stress disorder, and is also linked to the risk of onset of these conditions.

  4. The pain drawing as an instrument for identifying cervical spine nerve involvement in chronic whiplash-associated disorders.

    Science.gov (United States)

    Bernhoff, Gabriella; Landén Ludvigsson, Maria; Peterson, Gunnel; Bertilson, Bo Christer; Elf, Madeleine; Peolsson, Anneli

    2016-01-01

    The aim of the study was to investigate the psychometric properties of a standardized assessment of pain drawing with regard to clinical signs of cervical spine nerve root involvement. This cross-sectional study included data collected in a randomized controlled study. Two hundred and sixteen patients with chronic (≥6 months) whiplash-associated disorders, grade 2 or 3, were included in this study. The validity, sensitivity, and specificity of a standardized pain drawing assessment for determining nerve root involvement were analyzed, compared to the clinical assessment. In addition, we analyzed the interrater reliability with 50 pain drawings. Agreement was poor between the standardized pain drawing assessment and the clinical assessment (kappa =0.11, 95% CI: -0.03 to 0.20). Sensitivity was high (93%), but specificity was low (19%). Interrater reliability was good (kappa =0.64, 95% CI: 0.53 to 0.76). The standardized pain drawing assessment of nerve root involvement in chronic whiplash-associated disorders was not in agreement with the clinical assessment. Further research is warranted to optimize the utilization of a pain/discomfort drawing as a supportive instrument for identifying nerve involvement in cervical spinal injuries.

  5. Clinical study of duloxetine hydrochloride combined with doxazosin for the treatment of pain disorder in chronic prostatitis/chronic pelvic pain syndrome: An observational study.

    Science.gov (United States)

    Zhang, Mingxin; Li, Hanzhong; Ji, Zhigang; Dong, Dexin; Yan, Su

    2017-03-01

    To explore the safety and efficacy of the selective 5-serotonin and norepinephrine reuptake inhibitor duloxetine hydrochloride and alpha-adrenergic receptor blocker (alpha-blocker) doxazosin mesylate-controlled tablets in the treatment of pain disorder in chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS).In all, 150 patients were enrolled and 126 patients completed the study (41 patients in the doxazosin group, 41 patients in the sertraline group, and 44 patients in the duloxetine group). This was an open randomized 6-month study. CP/CPPS patients who met the diagnostic criteria were randomized into 3 groups. The patients in the duloxetine group received doxazosin 4 mg + duloxetine 30 mg once a day, and the dosage of duloxetine was increased to 60 mg after a week. The patients in the doxazosin group received doxazosin 4 mg once a day. The patients in the sertraline group received doxazosin 4 mg + sertraline 50 mg once a day. National Institutes of Health Chronic Prostatitis Symptom Index (NIH-CPSI) score, the short-form McGill Pain questionnaire (SF-MPQ), and the hospital anxiety and depression scale (HAD) were applied for evaluations during follow-up of 1, 3, and 6 months after treatment.There were slight positive significant correlations between NIH-CPSI scores and HAD scores, moderate positive significant correlations between the quality of life (QOL) and SF-MPQ, and slight positive significant correlations between HAD and QOL. The effective rate in the doxazosin group was 4.88%, 19.51%, and 56.10% after 1, 3, and 6 months, respectively (P pain and mental factors in CP/CPPS with the main symptom of pain. Doxazosin combined with duloxetine exhibited good safety and efficacy in the treatment of pain disorder in CP/CPPS.

  6. Neurobiological and neurocognitive effects of chronic cigarette smoking and alcoholism.

    Science.gov (United States)

    Durazzo, Timothy C; Meyerhoff, Dieter J

    2007-05-01

    Chronic cigarette smoking is associated with adverse effects on cardiac, pulmonary, and vascular function as well as the increased risk for various forms of cancer. However, little is known about the effects of chronic smoking on human brain function. Although smoking rates have decreased in the developed world, they remain high in individuals with alcohol use disorders (AUD) and other neuropsychiatric conditions. Despite the high prevalence of chronic smoking in AUD, few studies have addressed the potential neurobiological or neurocognitive consequences of chronic smoking in alcohol use disorders. Here, we review the the neurobiological and neurocognitive findings in both AUD and chronic cigarette smoking, followed by a review of the effects of comorbid cigarette smoking on neurobiology and neurocognition in AUD. Recent research suggests that comorbid chronic cigarette smoking modulates magnetic resonance-detectable brain injury and neurocognition in alcohol use disorders and adversely affects neurobiological and neurocognitive recovery in abstinent alcoholics.. Consideration of the potential separate and interactive effects of chronic smoking and alcohol use disorders may have significant implications for pharmacological and behavioral treatment interventions.

  7. Trauma, alexithymia, emotional regulation and dissociation in alcohol use disorder, substance use disorder and polysubstance disorder

    OpenAIRE

    Stark, Claire

    2017-01-01

    Background: Around 33-50% who attend treatment for substance use disorder (SUD) and alcohol use disorder (AUD) have a history of trauma. Experiencing trauma can lead to psychological disorders, difficulties with emotional regulation and dissociation. SUD and AUD can be chronic, relapsing disorders and understanding what individual factors affect addiction has important implications for treatment. Objective: The systematic review was interested in whether alexithymia affects ...

  8. T-Regulatory Cell and CD3 Depleted Double Umbilical Cord Blood Transplantation in Hematologic Malignancies

    Science.gov (United States)

    2017-11-29

    Hematologic Malignancy; Acute Myeloid Leukemia; Acute Lymphocytic Leukemia; Chronic Myelogenous Leukemia in Blast Crisis; Anemia, Refractory, With Excess of Blasts; Chronic Myeloproliferative Disease; Chronic Lymphocytic Leukemia; Small Lymphocytic Lymphoma; Marginal Zone B-cell Lymphoma; Follicular Lymphoma; Lymphoplasmacytic Lymphoma; Mantle-Cell Lymphoma; Prolymphocytic Lymphoma; Large Cell Non-Hodgkin's Lymphoma; Lymphoblastic Lymphoma; Burkitt's Lymphoma; High Grade Non-Hodgkin's Lymphoma

  9. Headache in patients with chronic obstructive pulmonary disease: effects of chronic hypoxaemia.

    Science.gov (United States)

    Ozge, Aynur; Ozge, Cengiz; Kaleagasi, Hakan; Yalin, Osman Ozgür; Unal, Ozgür; Ozgür, Eylem S

    2006-02-01

    The frequency and characteristics of headache in patients with chronic obstructive pulmonary disease (COPD) are not clear and there are only a few studies that have assessed the relationship between chronic hypoxaemia and headache. We performed this study in order to evaluate the frequency and characteristics of headache in COPD patients. A total of 119 patients, with a mean age of 63.4 +/- 8.2 years, diagnosed with moderate or severe stable COPD were included in the study. Overall 31.9% of the patients complained of headache and 45.4% were reported to have sleep disorders. There were significant effects of family history of COPD, having other systemic disorders or sleep disorders (snoring, bruxism, restless leg syndrome, etc.) and laboratory data of chronic hypoxaemia and airway obstruction on headache co-morbidity. In conclusion, possibly being a specific subtype of elderly headache, headache in patients with moderate or severe COPD is a common problem and future studies are needed to obtain more knowledge about its pathophysiological and clinical basis.

  10. Tic disorders and Tourette's syndrome

    DEFF Research Database (Denmark)

    Plessen, Kerstin J

    2012-01-01

    Diagnostic categories of tic disorders include both transient and chronic tic disorders and Tourette's disorder. Changes for this group of disorders proposed for the forthcoming DSM-5 system include: (1) The term "stereotyped" will be eliminated in the definition of tics and the new definition...... will be applied consistently across all entities of tic disorders; (2) the diagnosis "Transient Tic Disorder" will change its name to "Provisional Tic Disorder"; (3) introduction of two new categories in individuals whose tics are triggered by illicit drugs or by a medical condition; (4) specification of chronic...... tic disorders into those with motor tics or with vocal tics only; (5) specification of the absence of a period longer than 3 months without tics will disappear for Tourette's Disorder. This overview discusses a number of implications resulting from these diagnostic modifications of the diagnostic...

  11. Parental age and the risk of obsessive compulsive disorder and Tourette syndrome / chronic tic disorder in a nationwide population-based sample.

    Science.gov (United States)

    Chudal, Roshan; Leivonen, Susanna; Rintala, Hanna; Hinkka-Yli-Salomäki, Susanna; Sourander, Andre

    2017-12-01

    Advancing paternal age has been associated with several neuropsychiatric disorders in children. However, there is limited understanding of this association with obsessive compulsive disorder (OCD) and Tourette syndrome/chronic tic disorder (TS/CT) with inconsistent findings. We examined the association between parental age and offspring OCD and TS/CT. This nested case-control study used the Finnish Hospital Discharge Register (FHDR) to identify 1358 individuals with OCD and 1195 with TS/CT, born from 1991 to 2009 and diagnosed by 2010. Each case was matched with four controls from the Finnish Population Register (FPR), without diagnoses of OCD, TS/CT or severe or profound mental retardation. Conditional logistic regression was used to examine the association between parental age and OCD, TS/CT. A trend of increasing odds was seen with advancing maternal age. In the final model, offspring of mothers aged 35-39 years had a 1.3-fold increased odd (OR = 1,31, 95% confidence interval (95% CI:1.03-1.66)) of OCD compared with maternal aged 25-29 years. Offspring of fathers younger than 20 years had increased odds of TS/CT in the unadjusted analysis (OR = 2.43, 95% CI: 1.27-4.56). The study limitations included using hospital diagnoses to identify cases, with limited diagnostic validity, and the possible over representation of moderate to severe cases. The lack of association between advancing paternal age and OCD is in contrast with schizophrenia, despite sharing demographic characteristics and possible shared neuropathology. Furthermore, these differences suggest different etiological pathways among TS/CT, autism spectrum disorder (ASD) and attention deficit/hyperactive disorder (ADHD), despite their frequently comorbid existence. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Behavioral Interventions Targeting Chronic Pain, Depression, and Substance Use Disorder in Primary Care.

    Science.gov (United States)

    Barrett, Kathleen; Chang, Yu-Ping

    2016-07-01

    Patients with chronic pain, depression, and substance use disorder (SUD) are often treated in primary care settings. An estimated 52% of patients have a diagnosis of chronic pain, 5% to 13% have depression, and 19% have SUD. These estimates are likely low when considering the fact that 50% of primary care patients with depression and 65% with SUD are undiagnosed or do not seek help. These three conditions have overlapping neurophysiological processes, which complicate the treatment outcomes of a primary physical illness. Behavioral interventions have been widely utilized as adjunctive treatments, yet little is known about what types of behavioral interventions were effective to treat these comorbidities. This systematic review aimed to identify behavioral interventions targeting chronic pain, depression, and SUD in primary care settings. The Cumulative Index to Nursing and Allied Health Literature, Medline, PsycInfo, and Google Scholar databases were searched to identify randomized controlled trials, using a behavioral intervention, involving adults with at least two of the three conditions. This search yielded 1,862 relevant records, and six articles met final selection criteria. A total of 696 participants were studied. Behavioral interventions varied in content, format, and duration. Mindfulness Oriented Recovery Enhancement (MORE), Acceptance and Commitment Therapy (ACT), Interpersonal Psychotherapy adapted for pain (IPT-P), and Cognitive Behavioral Therapy (CBT) showed promising improvements across all studies, albeit with small to moderate effects. MORE, ACT, and CBT combined with mindfulness and Motivational Interviewing had the most promising results for treating chronic pain, depression, and SUD in various combinations in primary care settings. The evidence is mounting that behavioral interventions such as mindfulness-based or cognitive-behavioral interventions are effective strategies for managing patients with comorbidities of chronic pain, depression

  13. Short- and long-term changes in perceived work ability after interdisciplinary rehabilitation of chronic musculoskeletal disorders: prospective cohort study among 854 rehabilitants.

    Science.gov (United States)

    Saltychev, Mikhail; Laimi, Katri; Pentti, Jaana; Kivimäki, Mika; Vahtera, Jussi

    2014-06-01

    To investigate the changes in rehabilitants' perceived work ability after rehabilitation for chronic musculoskeletal disorders with respect to the baseline characteristics. Prospective cohort study based on register and repeated survey data. Public sector employees in ten towns and five hospital districts. A total of 854 employees who participated in the rehabilitation programme owing to common chronic musculoskeletal disorders between 1997 and 2009. Interdisciplinary, biopsychosocial, inpatient rehabilitation programme targeting people of working age with common chronic musculoskeletal disorders. The programme was executed in different rehabilitation centres across the country and funded by the Social Insurance Institution of Finland. Differences in perceived work ability level before and after rehabilitation. Data were derived from repeated surveys on average 2.1 years before rehabilitation, and 1.5 years (short-term follow-up) and 6.0 years (long-term follow-up) after rehabilitation. Before the rehabilitation, perceived work ability was 7.13 (SD 1.84) among the rehabilitants and 7.27 (SD 1.72) in the matched reference population. Among rehabilitants, this figure decreased by 0.82 (95% confidence interval -0.98 to -0.67) in the short-term and by 1.26 (95% confidence interval -1.45 to -1.07) in the long-term follow-up. Only slight differences in steepness of this deterioration were observed between subgroups, created based on the participants' baseline characteristics. Perceived work ability of participants, in an interdisciplinary biopsychosocial rehabilitation programme for common musculoskeletal disorders, deteriorated regardless of any studied pretreatment characteristics. The improvement of work ability may be an unrealistic goal for participants in this type of rehabilitation. © The Author(s) 2014.

  14. Prevalence of sleep breathing complaints reported by treatment-seeking chronic insomnia disorder patients on presentation to a sleep medical center: a preliminary report.

    Science.gov (United States)

    Krakow, Barry; Ulibarri, Victor A

    2013-03-01

    Few studies have examined the co-morbidity between insomnia and sleep-disordered breathing in the clinical setting. This study evaluated treatment-seeking insomnia patients and their self-report of sleep breathing complaints. A retrospective chart review was conducted on 1,035 consecutive treatment-seeking, chronic insomnia patients who reported insomnia as their primary problem upon seeking care at a private, community-based sleep medical center. Measurements included the insomnia severity index, standard subjective sleep measures as well as rankings, attributions, and self-reports about sleep breathing disorders, problems, and symptoms. A total of 1,035 adult, treatment-seeking insomnia patients indicated insomnia interfered with daytime functioning, and their average insomnia severity was in the range of a clinically relevant problem: total sleep time (5.50 h, SD = 1.60), sleep efficiency (71.05 %, SD = 18.26), wake time after sleep onset (120.70 min, SD = 92.56), and an insomnia severity index (18.81, SD = 5.09). Of these 1,035 insomnia patients, 42 % also ranked a sleep breathing disorder among their list of reasons for seeking treatment, another 13 % revealed a concern about a sleep breathing problem, and another 26 % reported awareness of sleep breathing symptoms. Only 19 % of this clinical insomnia sample reported no awareness or concerns about sleep breathing disorders, problems, or symptoms. A greater proportion of men than women reported significantly more sleep breathing disorders, problems, or symptoms. Sleep breathing complaints were extremely common among a large sample of treatment-seeking, self-identified, adult chronic insomnia patients. Prospective prevalence research is needed to corroborate or revise these findings, and polysomnography should be considered in appropriate cohorts to determine the clinical relevance of treatment-seeking chronic insomnia patients' sleep breathing complaints.

  15. Increased risk of chronic obstructive pulmonary disease in patients with bipolar disorder: A population-based study.

    Science.gov (United States)

    Hsu, Jer-Hwa; Chien, I-Chia; Lin, Ching-Heng

    2017-10-01

    We conducted this nationwide study to examine the prevalence and incidence of chronic obstructive pulmonary disease (COPD) among patients with bipolar disorder in Taiwan. We used a random sample of 766,427 subjects who were aged ≥18 years in 2005. Patients with at least one primary diagnosis of bipolar disorder were identified. Study participants with one primary or secondary diagnosis of COPD for either ambulatory or inpatient care were also identified. We compared the prevalence of COPD in patients with bipolar disorder and the general population in 2005. In addition, we further investigated this cohort from 2006 to 2010 to detect incident cases of COPD in patients with bipolar disorder compared with the general population. The factors associated with COPD among patients with bipolar disorder were also analyzed. The prevalence of COPD in patients with bipolar disorder was higher than in the general population in 2005 (5.68% vs. 2.88%, odds ratio 2.03; 95% confidence interval, 1.53-2.67). The average annual incidence of COPD in patients with bipolar disorder was also higher than in the general population (2.03% vs. 1.03%, risk ratio 1.94; 95% confidence interval, 1.65-2.29) from 2006 to 2010. Some risk factors for COPD such as substance use, obesity, or lifestyle pattern were not available in this study. Patients with bipolar disorder had a higher prevalence and incidence of COPD compared with the general population. Higher prevalence of COPD among bipolar patients was associated with increased age, males, hypertension, and second-generation antidepressant use. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Blended Interventions to Change Behavior in Patients With Chronic Somatic Disorders: Systematic Review.

    Science.gov (United States)

    Kloek, Corelien; Bossen, Daniël; de Bakker, Dinny H; Veenhof, Cindy; Dekker, Joost

    2017-12-21

    Blended behavior change interventions combine therapeutic guidance with online care. This new way of delivering health care is supposed to stimulate patients with chronic somatic disorders in taking an active role in their disease management. However, knowledge about the effectiveness of blended behavior change interventions and how they should be composed is scattered. This comprehensive systematic review aimed to provide an overview of characteristics and effectiveness of blended behavior change interventions for patients with chronic somatic disorders. We searched for randomized controlled trials published from 2000 to April 2017 in PubMed, Embase, CINAHL, and Cochrane Central Register of Controlled Trials. Risk of bias was assessed using the Cochrane Collaboration tool. Study characteristics, intervention characteristics, and outcome data were extracted. Studies were sorted based on their comparison group. A best-evidence synthesis was conducted to summarize the effectiveness. A total of 25 out of the 29 included studies were of high quality. Most studies (n=21; 72%) compared a blended intervention with no intervention. The majority of interventions focused on changing pain behavior (n=17; 59%), and the other interventions focused on lifestyle change (n=12; 41%). In addition, 26 studies (90%) focused on one type of behavior, whereas 3 studies (10%) focused on multiple behaviors. A total of 23 studies (79%) mentioned a theory as basis for the intervention. The therapeutic guidance in most studies (n=18; 62%) was non face-to-face by using email, phone, or videoconferencing, and in the other studies (partly), it was face-to-face (n=11; 38%). In 26 studies (90%), the online care was provided via a website, and in 3 studies (10%) via an app. In 22 studies (76%), the therapeutic guidance and online care were integrated instead of two separate aspects. A total of 26 outcome measures were included in the evidence synthesis comparing blended interventions with no

  17. Safety and efficacy of aripiprazole for the treatment of pediatric Tourette syndrome and other chronic tic disorders

    Directory of Open Access Journals (Sweden)

    Cox JH

    2016-06-01

    Full Text Available Joanna H Cox,1 Stefano Seri,2,3 Andrea E Cavanna,2,4,5 1Heart of England NHS Foundation Trust, 2School of Life and Health Sciences, Aston Brain Centre, Aston University, 3Children’s Epilepsy Surgery Programme, The Birmingham Children’s Hospital NHS Foundation Trust, 4Department of Neuropsychiatry, Birmingham and Solihull Mental Health NHS Foundation Trust, Birmingham, 5Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology and UCL, London, UK Abstract: Tourette syndrome is a childhood-onset chronic tic disorder characterized by multiple motor and vocal tics and often accompanied by specific behavioral symptoms ranging from obsessionality to impulsivity. A considerable proportion of patients report significant impairment in health-related quality of life caused by the severity of their tics and behavioral symptoms and require medical intervention. The most commonly used medications are antidopaminergic agents, which have been consistently shown to be effective for tic control, but are also associated with poor tolerability because of their adverse effects. The newer antipsychotic medication aripiprazole is characterized by a unique mechanism of action (D2 partial agonism, and over the last decade has increasingly been used for the treatment of tics. We conducted a systematic literature review to assess the available evidence on the efficacy and safety of aripiprazole in pediatric patients with Tourette syndrome and other chronic tic disorders (age range: 4–18 years. Our search identified two randomized controlled trials (involving 60 and 61 participants and ten open-label studies (involving between six and 81 participants. The majority of these studies used two validated clinician-rated instruments (Yale Global Tic Severity Scale and Clinical Global Impression scale as primary outcome measures. The combined results from randomized controlled trials and open-label studies showed that aripiprazole is an

  18. Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms

    Science.gov (United States)

    Tenedini, E; Bernardis, I; Artusi, V; Artuso, L; Roncaglia, E; Guglielmelli, P; Pieri, L; Bogani, C; Biamonte, F; Rotunno, G; Mannarelli, C; Bianchi, E; Pancrazzi, A; Fanelli, T; Malagoli Tagliazucchi, G; Ferrari, S; Manfredini, R; Vannucchi, A M; Tagliafico, E

    2014-01-01

    With the intent of dissecting the molecular complexity of Philadelphia-negative myeloproliferative neoplasms (MPN), we designed a target enrichment panel to explore, using next-generation sequencing (NGS), the mutational status of an extensive list of 2000 cancer-associated genes and microRNAs. The genomic DNA of granulocytes and in vitro-expanded CD3+T-lymphocytes, as a germline control, was target-enriched and sequenced in a learning cohort of 20 MPN patients using Roche 454 technology. We identified 141 genuine somatic mutations, most of which were not previously described. To test the frequency of the identified variants, a larger validation cohort of 189 MPN patients was additionally screened for these mutations using Ion Torrent AmpliSeq NGS. Excluding the genes already described in MPN, for 8 genes (SCRIB, MIR662, BARD1, TCF12, FAT4, DAP3, POLG and NRAS), we demonstrated a mutation frequency between 3 and 8%. We also found that mutations at codon 12 of NRAS (NRASG12V and NRASG12D) were significantly associated, for primary myelofibrosis (PMF), with highest dynamic international prognostic scoring system (DIPSS)-plus score categories. This association was then confirmed in 66 additional PMF patients composing a final dataset of 168 PMF showing a NRAS mutation frequency of 4.7%, which was associated with a worse outcome, as defined by the DIPSS plus score. PMID:24150215

  19. Initial Psychometric Properties of a Brief Parent-Report Instrument for Assessing Tic Severity in Children with Chronic Tic Disorders

    Science.gov (United States)

    Chang, Susanna; Himle, Michael B.; Tucker, Benjamin T. P.; Woods, Douglas W.; Piacentini, John

    2009-01-01

    This article describes the development and initial psychometric properties of the Parent Tic Questionnaire (PTQ)--a new measure assessing the number, frequency, and intensity of motor and vocal tics in children and adolescents with Chronic Tic Disorder (CTD). Parents of 40 children with a CTD completed the PTQ as part of a larger assessment…

  20. Frequency of thyroid disorders during interferon and ribavirin therapy in chronic hepatitis C infection

    International Nuclear Information System (INIS)

    Masood, N.; Memon, A.; Memon, S.; Jaffri, M.

    2008-01-01

    The objective of this study was to assess the frequency of thyroid dysfunction in response to combination of interferon and ribavirin therapy in chronic hepatitis C (CHC) patients and HCV outcome. One hundred cases of CHC, proven by anti-HCV and HCV RNA-positive with baseline TSH, FT4 and FT3 within the normal reference range, who were treated with interferon alpha-2b (3 million unit subcutaneously three times per week) and oral ribavirin (1000-1200 mg per day) were included in this study. All patients were assessed for TSH, FT4, FT3 levels at 12 weeks and 24 weeks during therapy. Among the 100 patients, overt thyroid disease developed in 13 (13%) and sub-clinical thyroid disease in 5 (5%). Out of 13 patients of overt thyroid disorders, 11 (84.6%) had hypothyroidism and 02 (15.3%) hyperthyroidism. Four (80%) patients were of sub-clinical hypothyroidism and 01 (20%) patient was of sub-clinical hyperthyroidism. Overall, thyroid disorders developed in 18 (18%) both as overt and sub-clinical thyroid disorders. Ninety one (91%) patients became negative by HCV RNA. Treatment of HCV with IFN-alpha and ribavirin can be safely continued in patients with over and sub clinical hypothyroidism because thyroid disease responds well to treatment. (author)

  1. Diagnosing Tic Disorders

    Science.gov (United States)

    ... Submit" /> Information For… Media Policy Makers Diagnosing Tic Disorders Language: English (US) Español (Spanish) Recommend on ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder To be diagnosed with a persistent tic ...

  2. Impact of metoprolol treatment on mental status of chronic heart failure patients with neuropsychiatric disorders

    Directory of Open Access Journals (Sweden)

    Liu X

    2017-01-01

    Full Text Available Xuelu Liu,1 Xueming Lou,1 Xianliang Cheng,2 Yong Meng1 1Department of Cardiology, 2Department of Endocrinology, The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, People’s Republic of China Background: Metoprolol treatment is well established for chronic heart failure (CHF patients, but the central nervous system side effects are often a potential drawback.Objective: To investigate the impact of metoprolol treatment on change in mental status of CHF patients with clinical psychological disorders (such as depression, anxiety, and burnout syndrome.Methods: From February 2013 to April 2016, CHF patients with clinical mental disorders received metoprolol (23.75 or 47.5 mg, qd PO, dose escalated with 23.75 mg each time until target heart rate [HR] <70 bpm was achieved at the Second Affiliated Hospital of Kunming Medical University. Mental status was assessed by means of the Hospital Anxiety and Depression Scale (HADS and the Copenhagen Burnout Inventory (CBI scale. The primary outcome assessed was change in mental status of patients post-metoprolol treatment and the association with reduction in HR achieved by metoprolol.Results: A total of 154 patients (median age: 66.39 years; males: n=101 were divided into eight groups on the basis of their mental status. HR decreased significantly from baseline values in all the groups to <70 bpm in the 12th month, P≤0.0001. The HADS depression and CBI scores significantly increased from baseline throughout the study frame (P≤0.0001 for all groups, but a significant decrease in the HADS anxiety score was observed in patients with anxiety (P≤0.0001 for all groups. Regression analysis revealed no significant correlation in any of the groups between the HR reduction and the change in the HADS/CBI scores, except for a change in the CBI scores of CHF patients with depression (P=0.01, which was HR dependent.Conclusion: Metoprolol treatment worsens the depressive and high burnout

  3. Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.

    Science.gov (United States)

    Pietra, Daniela; Brisci, Angela; Rumi, Elisa; Boggi, Sabrina; Elena, Chiara; Pietrelli, Alessandro; Bordoni, Roberta; Ferrari, Maurizio; Passamonti, Francesco; De Bellis, Gianluca; Cremonesi, Laura; Cazzola, Mario

    2011-04-01

    Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. We used direct sequencing and high-resolution melt analysis to identify mutations of MPL exon 10 in 570 patients with myeloproliferative neoplasms, and allele specific PCR and deep sequencing to further characterize a subset of mutated patients. Somatic mutations were detected in 33 of 221 patients (15%) with JAK2 (V617F)-negative essential thrombocythemia or primary myelofibrosis. Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). High-resolution melt analysis identified abnormal patterns in all the MPL mutated cases, while direct sequencing did not detect the mutant MPL in one fifth of them. In 3 cases carrying double MPL mutations, deep sequencing analysis showed identical load and location in cis of the paired lesions, indicating their simultaneous occurrence on the same chromosome.

  4. Effects of Chronic Central Arginine Vasopressin (AVP) on Maternal Behavior in Chronically Stressed Rat Dams

    Science.gov (United States)

    Coverdill, Alexander J.; McCarthy, Megan; Bridges, Robert S.; Nephew, Benjamin C.

    2012-01-01

    Exposure of mothers to chronic stressors during pregnancy or the postpartum period often leads to the development of depression, anxiety, or other related mood disorders. The adverse effects of mood disorders are often mediated through maternal behavior and recent work has identified arginine vasopressin (AVP) as a key neuropeptide hormone in the expression of maternal behavior in both rats and humans. Using an established rodent model that elicits behavioral and physiological responses similar to human mood disorders, this study tested the effectiveness of chronic AVP infusion as a novel treatment for the adverse effects of exposure to chronic social stress during lactation in rats. During early (day 3) and mid (day 10) lactation, AVP treatment significantly decreased the latency to initiate nursing and time spent retrieving pups, and increased pup grooming and total maternal care (sum of pup grooming and nursing). AVP treatment was also effective in decreasing maternal aggression and the average duration of aggressive bouts on day 3 of lactation. Central AVP may be an effective target for the development of treatments for enhancing maternal behavior in individuals exposed to chronic social stress. PMID:24349762

  5. The value of midbrain morphology in predicting prognosis in chronic disorders of consciousness: A preliminary ultrasound study.

    Science.gov (United States)

    Chillura, Antonino; Naro, Antonino; Micchia, Katia; Bramanti, Alessia; Bramanti, Placido; Calabrò, Rocco Salvatore

    2017-09-15

    Transcranial sonography (TCS) of the brainstem is currently used to support the clinical diagnosis of movement disorders. The aim of the study was to assess the usefulness of midbrain TCS in assessing outcome in patients with Chronic Disorders of Consciousness (DOC). Eleven patients with Minimally Conscious State (MCS) and Unresponsive Wakefulness Syndrome (UWS) were included in the study. We measured the area and echogenicity of the midbrain by encoding and digitally analyzing the corresponding images from the orbitomeatal plane, the morphology of brain parenchyma from the thalamic and cella media plane, and the intracranial circulation. All the patients showed an increase of pulsatility index and numerous morphological alterations on all the scan planes. In particular, we found a loss of the characteristic butterfly-shape of the midbrain, which appeared hypoechoic in the UWS but not in the MCS patients. After six months, the patients were clinically assessed by using Glasgow Outcome Scale Extended (GOSE). We found that a higher increase in GOSE scoring at follow-up was correlated with larger area and higher echogenicity of the midbrain at baseline. The present study suggests that TCS data of the midbrain may support clinical assessment of patients with chronic DOC to estimate their outcome. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Role of Acupuncture in the Treatment or Prevention of Migraine, Tension-Type Headache, or Chronic Headache Disorders.

    Science.gov (United States)

    Coeytaux, Remy R; Befus, Deanna

    2016-07-01

    To summarize the current evidence that evaluates the effectiveness of acupuncture for the treatment or prevention of migraine, tension-type headache, and chronic headache disorders. Findings from selected systematic reviews and meta-analyses are summarized. Recently published systematic reviews and meta-analyses demonstrate that acupuncture is associated with improved clinical outcomes compared to routine care only, medical management, and sham acupuncture 2 months after randomization. The evidence in support of acupuncture's comparative effectiveness at longer follow-up periods is mixed. Cost effectiveness analyses conducted in the United Kingdom and Germany suggest that acupuncture is a cost-effective treatment option in those countries. There are few or no cost-effectiveness studies of acupuncture in the United States. This brief review of the current, published evidence does not include a discussion of potential risks or adverse events associated with acupuncture. There is also the question of the extent to which placebo effects might contribute to acupuncture's clinical effectiveness. From a purely comparative effectiveness perspective, however, the evidence from clinical trials and meta-analyses makes a compelling case in support of a potentially important role for acupuncture as part of a treatment plan for patients with migraine, tension-type headache, and several different types of chronic headache disorders. © 2016 American Headache Society.

  7. Treatment for Chronic Depression Using Schema Therapy

    NARCIS (Netherlands)

    Renner, F.; Arntz, A.; Leeuw, I.; Huibers, M.J.H.

    2013-01-01

    Schema therapy (ST) is an integrative treatment approach to chronic lifelong problems with an established effectiveness for treating personality disorders. This article describes the adaptation of ST to chronic depression by reviewing the literature on the underlying risk factors to chronic

  8. [Surgical treatment of varices at the stage of trophic disorders in chronic venous insufficiency].

    Science.gov (United States)

    Ludin, A; Ammann, J

    1991-01-01

    Most ulcers of the lower limbs are caused by existing chronic venous insufficiency. Later on, true social and professional problems will arise, with serious economic and psychological consequences not only for the patient himself, but for the community as well, such as huge medical costs--hence the importance of prevention and treatment, which must in no case be purely symptomatic. The ligation of the arch and of the perforating veins and stripping of the affected vein are part of the classical management of varices. These procedures can may prove to be virtually impossible in case of chronic venous insufficiency, if the patient also presents with subcutaneous liposclerosis or atrophy in an already pregangrenous skin. This preulcerous stage can be aggravated later on if the requirements for surgical repair are not met. Necrosis can then occur, if too aggressive surgery directly or indirectly injures the microcirculatory system of the damaged skin. Omitted or undesirable acts are dangerous at the stage of trophic disorders and surgery may fail to reach its aim, which of course would be to definitively and quickly eliminate the varicose disease.

  9. Potential neurobiological benefits of exercise in chronic pain and posttraumatic stress disorder: Pilot study.

    Science.gov (United States)

    Scioli-Salter, Erica; Forman, Daniel E; Otis, John D; Tun, Carlos; Allsup, Kelly; Marx, Christine E; Hauger, Richard L; Shipherd, Jillian C; Higgins, Diana; Tyzik, Anna; Rasmusson, Ann M

    2016-01-01

    This pilot study assessed the effects of cardiopulmonary exercise testing and cardiorespiratory fitness on plasma neuropeptide Y (NPY), allopregnanolone and pregnanolone (ALLO), cortisol, and dehydroepiandrosterone (DHEA), and their association with pain sensitivity. Medication-free trauma-exposed participants were either healthy (n = 7) or experiencing comorbid chronic pain/posttraumatic stress disorder (PTSD) (n = 5). Peak oxygen consumption (VO2) during exercise testing was used to characterize cardiorespiratory fitness. Peak VO2 correlated with baseline and peak NPY levels (r = 0.66, p exercise-induced changes in ALLO (r = 0.89, p exercise correlated with pain threshold 30 min after exercise (r = 0.65, p exercise-induced increases in ALLO correlated with pain tolerance 30 min after exercise (r = 0.64, p exercise-induced changes in cortisol and DHEA levels were inversely correlated with pain tolerance after exercise (r = -0.69, p exercise, which in turn relate to pain sensitivity. Future work will examine whether progressive exercise training increases cardiorespiratory fitness in association with increases in NPY and ALLO and reductions in pain sensitivity in chronic pain patients with PTSD.

  10. A rare case of hypocalcemia induced by nilotinib

    Directory of Open Access Journals (Sweden)

    Marija Petrić

    2017-03-01

    Full Text Available Chronic myelogenous leukemia (CML is a myeloproliferative disorder characterized by increased proliferation of predominantly myeloid cells in the bone marrow and their accumulation in the peripheral blood. Nowadays, drugs known as tyrosine kinase inhibitors (TKIs are the standard treatment for CML. Since TKIs specifically target BCR-ABL, the activated tyrosine kinase fusion protein, they are expected to cause less hematological and nonhematological side effects than medications used before. We report a case of a 61-year-old patient treated with the second-generation TKI, nilotinib, that presented with very common side effects (skin rash, myalgia, and paresthesia, and also with rare, but severe hypocalcemia and potentially dangerous and fatal QTc elongation.

  11. Generalised anxiety disorder

    OpenAIRE

    Gale, Christopher K; Millichamp, Jane

    2011-01-01

    Generalised anxiety disorder is characterised by persistent, excessive and difficult-to-control worry, which may be accompanied by several psychic and somatic symptoms, including suicidality. Generalized anxiety disorder is the most common psychiatric disorder in the primary care, although it is often underrecognised and undertreated. Generalized anxiety disorder is typically a chronic condition with low short- and medium-term remission rates. Clinical presentations often include depression, ...

  12. Neurofeedback as an adjunct therapy for treatment of chronic posttraumatic stress disorder related to refugee trauma and torture experiences: two case studies.

    Science.gov (United States)

    Askovic, Mirjana; Watters, Anna J; Aroche, Jorge; Harris, Anthony W F

    2017-08-01

    The objective of this study was to describe the use of neurofeedback for refugee-related chronic posttraumatic stress disorder (PTSD) in two case studies. We describe the assessment and application of neurofeedback integrated into the treatment of two clients with chronic PTSD. We include details of our treatment schedule, symptoms and quantitative electrophysiological data for each case. Results All clients achieved significant reduction in symptoms of PTSD and improvement in daily functioning post-neurofeedback therapy. Quantitative electroencephalogric (EEG) measures indicate a normalisation of EEG markers relating to trauma, including overarousal at rest and working memory function. Conclusions Neurofeedback as an adjunct to trauma-informed therapy may help to remediate chronic PTSD relating to refugee experiences. If replicated then improvements demonstrated in this population would be generalisable to all chronic PTSD.

  13. Cost-effectiveness of collaborative care for chronically ill patients with comorbid depressive disorder in the general hospital setting, a randomised controlled trial

    Directory of Open Access Journals (Sweden)

    Beekman Aartjan TF

    2007-02-01

    Full Text Available Abstract Background Depressive disorder is one of the most common disorders, and is highly prevalent in chronically ill patients. The presence of comorbid depression has a negative influence on quality of life, health care costs, self-care, morbidity, and mortality. Early diagnosis and well-organized treatment of depression has a positive influence on these aspects. Earlier research in the USA has reported good results with regard to the treatment of depression with a collaborative care approach and an antidepressant algorithm. In the UK 'Problem Solving Treatment' has proved to be feasible. However, in the general hospital setting this approach has not yet been evaluated. Methods/Design CC: DIM (Collaborative Care: Depression Initiative in the Medical setting is a two-armed randomised controlled trial with randomisation at patient level. The aim of the trial is to evaluate the treatment of depressive disorder in general hospitals in the Netherlands based on a collaborative care framework, including contracting, 'Problem Solving Treatment', antidepressant algorithm, and manual-guided self-help. 126 outpatients with diabetes mellitus, chronic obstructive pulmonary disease, or cardiovascular diseases will be randomised to either the intervention group or the control group. Patients will be included if they have been diagnosed with moderate to severe depression, based on the DSM-IV criteria in a two-step screening method. The intervention group will receive treatment based on the collaborative care approach; the control group will receive 'care as usual'. Baseline and follow-up measurements (after 3, 6, 9, and 12 months will be performed by means of questionnaires. The primary outcome measure is severity of depressive symptoms, as measured with the PHQ-9. The secondary outcome measure is the cost-effectiveness of these treatments according to the TiC-P, the EuroQol and the SF-36. Discussion Earlier research has indicated that depressive disorder is

  14. Hypertensive disorders of pregnancy and risk of neurodevelopmental disorders in the offspring: a systematic review and meta-analysis protocol.

    LENUS (Irish Health Repository)

    Maher, Gillian M

    2017-10-05

    Hypertensive disorders of pregnancy (HDPs), that is chronic hypertension, gestational hypertension, pre-eclampsia (de novo or superimposed on chronic hypertension) and white coat hypertension, affect approximately 5%-15% of pregnancies. HDP exposure has been linked to an increased risk of autism spectrum disorder, attention deficit\\/hyperactivity disorder and other neurodevelopmental disorders in children. However, findings are inconsistent, and a clear consensus on the impact of HDPs on the risk of neurodevelopmental disorders is needed. Therefore, we aim to synthesise the published literature on the relationship between HDPs and the risk of neurodevelopmental disorders in the form of a systematic review and meta-analysis.

  15. Chronic subordination stress induces hyperphagia and disrupts eating behavior in mice modeling binge-eating-like disorder

    Directory of Open Access Journals (Sweden)

    Maria eRazzoli

    2015-01-01

    Full Text Available Background: Eating disorders are associated with physical morbidity and appear to have causal factors like stressful life events and negative affect. Binge eating disorder (BED is characterized by eating in a discrete period of time a larger than normal amount of food, a sense of lack of control over eating, and marked distress. There are still unmet needs for the identification of mechanisms regulating excessive eating, which is in part due to the lack of appropriate animal models. We developed a naturalistic murine model of subordination stress induced hyperphagia associated with the development of obesity. Here we tested the hypotheses that the eating responses of subordinate mice recapitulate the BED and that limiting hyperphagia could prevent stress-associated metabolic changes. Methods: Adult male mice were exposed to a model of chronic subordination stress associated with the automated acquisition of food intake and we performed a detailed meal pattern analysis. Additionally, using a pair-feeding protocol was test the hypothesis that the manifestation of obesity and the metabolic syndrome could be prevented by limiting hyperphagia. Results: The architecture of feeding of subordinate mice was disrupted during the stress protocol due to disproportionate amount of food ingested at higher rate and with shorter satiety ratio than control mice. Subordinate mice hyperphagia was further exacerbated in response to either hunger or to the acute application of a social defeat. Notably, the obese phenotype but not the fasting hyperglycemia of subordinate mice was abrogated by preventing hyperphagia in a pair feeding paradigm. Conclusion: Overall these results support the validity of our chronic subordination stress to model binge eating disorder allowing for the determination of the underlying molecular mechanisms and the generation of testable predictions for innovative therapies, based on the understanding of the regulation and the control of food

  16. Parental Psychopathology and Tourette Syndrome/Chronic Tic Disorder in Offspring: A Nationwide Case-Control Study.

    Science.gov (United States)

    Leivonen, Susanna; Scharf, Jeremiah M; Mathews, Carol A; Chudal, Roshan; Gyllenberg, David; Sucksdorff, Dan; Suominen, Auli; Voutilainen, Arja; Brown, Alan S; Sourander, Andre

    2017-04-01

    To determine the associations between maternal and paternal psychiatric diagnoses and Tourette syndrome (TS)/chronic tic disorder (CT) in a nationwide study. This nested case-control study linked data derived from three national registers. All singletons born and diagnosed with TS/CT in Finland between January 1991 and December 2010 were identified (n = 1,120) and matched to four controls (n = 4,299). Conditional logistic regression was used to examine the associations between parental psychopathology and TS/CT. Altogether, 24.9% of patients with TS/CT and 12.0% of controls had a mother with a psychiatric diagnosis. Similarly, 17.9% and 12.9% had a father with a psychiatric diagnosis. Any maternal and any paternal psychiatric diagnosis was associated with offspring TS/CT (odds ratio [OR] 2.3; 95% CI 1.9-2.7 and OR 1.2; 95% CI 1.01-1.5, respectively). The association between maternal psychiatric diagnosis and TS/CT was stronger than that between paternal psychiatric diagnosis and TS/CT (p disorders (OR 3.1, 95% CI 1.9-5.1), anxiety disorders (OR 2.6, 95% CI 1.9-3.5), affective disorders (OR 2.3, 95% CI 1.8-2.9), psychotic disorders (OR 2.0, 95% CI 1.2-3.3), and addiction disorders (OR 1.8, 95% CI 1.1-2.8) were associated with TS/CT. Paternal OCD (OR 6.5, 95% CI 1.1-39.5) and anxiety disorders (OR 1.5, 95% CI 1.1-2.3) were associated with TS/CT. Parental psychiatric diagnoses (especially in the mother) are associated with diagnosed offspring TS/CT. Further studies are required before the results can be generalized to all children with TS/CT. The associations between maternal psychiatric disorders and TS may reflect both maternal specific environmental and/or genetic influences. Copyright © 2017 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  17. Connecting the Mind–Body Split: Understanding the Relationship between Symptoms and Emotional Well-Being in Chronic Pain and Functional Gastrointestinal Disorders

    Directory of Open Access Journals (Sweden)

    Line Caes

    2017-12-01

    Full Text Available Paediatric chronic conditions, e.g., chronic pain and functional gastrointestinal disorders, are commonly diagnosed, with fatigue, pain and abdominal discomfort the most frequently reported symptoms across conditions. Regardless of whether symptoms are connected to an underlying medical diagnosis or not, they are often associated with an increased experience of psychological distress by both the ill child and their parents. While pain and embarrassing symptoms can induce increased distress, evidence is also accumulating in support of a reciprocal relationship between pain and distress. This reciprocal relationship is nicely illustrated in the fear avoidance model of pain, which has recently been found to be applicable to childhood pain experiences. The purpose of this article is to illustrate how mind (i.e., emotions and body (i.e., physical symptoms interact using chronic pain and gastrointestinal disorders as key examples. Despite the evidence for the connection between mind and body, the mind–body split is still a dominant position for families and health care systems, as evidenced by the artificial split between physical and mental health care. In a mission to overcome this gap, this article will conclude by providing tools on how the highlighted evidence can help to close this gap between mind and body.

  18. Chronic pelvic pain.

    Science.gov (United States)

    Stein, Sharon L

    2013-12-01

    Chronic pelvic pain is pain lasting longer than 6 months and is estimated to occur in 15% of women. Causes of pelvic pain include disorders of gynecologic, urologic, gastroenterologic, and musculoskeletal systems. The multidisciplinary nature of chronic pelvic pain may complicate diagnosis and treatment. Treatments vary by cause but may include medicinal, neuroablative, and surgical treatments. Copyright © 2013 Elsevier Inc. All rights reserved.

  19. Chronic fatigue syndrome and idiopathic intracranial hypertension: Different manifestations of the same disorder of intracranial pressure?

    Science.gov (United States)

    Higgins, J Nicholas P; Pickard, John D; Lever, Andrew M L

    2017-08-01

    Though not discussed in the medical literature or considered in clinical practice, there are similarities between chronic fatigue syndrome and idiopathic intracranial hypertension (IIH) which ought to encourage exploration of a link between them. The cardinal symptoms of each - fatigue and headache - are common in the other and their multiple other symptoms are frequently seen in both. The single discriminating factor is raised intracranial pressure, evidenced in IIH usually by the sign of papilloedema, regarded as responsible for the visual symptoms which can lead to blindness. Some patients with IIH, however, do not have papilloedema and these patients may be clinically indistinguishable from patients with chronic fatigue syndrome. Yet IIH is rare, IIH without papilloedema (IIHWOP) seems rarer still, while chronic fatigue syndrome is common. So are the clinical parallels spurious or is there a way to reconcile these conflicting observations? We suggest that it is a quirk of clinical measurement that has created this discrepancy. Specifically, that the criteria put in place to define IIH have led to a failure to appreciate the existence, clinical significance or numerical importance of patients with lower level disturbances of intracranial pressure. We argue that this has led to a grossly implausible distortion of the epidemiology of IIH such that the milder form of the illness (IIHWOP) is seen as less common than the more severe and that this would be resolved by recognising a connection with chronic fatigue syndrome. We hypothesise, therefore, that IIH, IIHWOP, lesser forms of IIH and an undetermined proportion of chronic fatigue cases are all manifestations of the same disorder of intracranial pressure across a spectrum of disease severity, in which this subset of chronic fatigue syndrome would represent the most common and least severe and IIH the least common and most extreme. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  20. Chronic health conditions and school performance among children and youth.

    Science.gov (United States)

    Crump, Casey; Rivera, Diana; London, Rebecca; Landau, Melinda; Erlendson, Bill; Rodriguez, Eunice

    2013-04-01

    Chronic health conditions are common and increasing among U.S. children and youth. We examined whether chronic health conditions are associated with low school performance. This retrospective cohort study of 22,730 children and youth (grades 2-11) in San Jose, California, was conducted from 2007 through 2010. Health conditions were defined as chronic if reported in each of the first 2 years, and school performance was measured using standardized English language arts (ELA) and math assessments. Chronic health conditions were independently associated with low ELA and math performance, irrespective of ethnicity, socioeconomic status, or grade level. Adjusted odds ratios for the association between any chronic health condition and low ("basic or below") performance were 1.25 (95% confidence interval [CI], 1.16-1.36; P absenteeism had little effect on these results. The strongest associations were found for ADHD, autism, and seizure disorders, whereas a weak association was found for asthma before but not after adjusting for absenteeism, and no associations were found for cardiovascular disorders or diabetes. Chronic neurodevelopmental and seizure disorders, but not cardiovascular disorders or diabetes, were independently associated with low school performance among children and youth. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. Clinical management of chronic TMD pain.

    Science.gov (United States)

    Miller, D B

    1998-01-01

    Chronic Pain extracts a "penalty" on society now estimated to be well in excess of $100 million per year. The "penalty" that Chronic Pain extracts from its victims is incalculable. Chronic Pain is a major component of Temporomandibular Disorders. The current neurological theory of the mechanism of chronic TMD pain is explored along with the current modes of treatment. Pharmacological management of Chronic Pain in a clinical setting is outlined. Dentists are involved in pain management on a daily basis. Dentists treat pain both prophylacticly and in response to specific patient symptoms. Most dental treatment involves some type of pain management. We, dentists, have become very adept at managing acute pain. We have much greater difficulty managing chronic pain. The word "pain" derives from the Greek word for penalty, and appeared to them to be a "penalty" inflicted by the gods. In 1984, Bonica estimated that one-third of all Americans suffered from some kind of chronic pain at a "penalty" to society of $65 Billion annually in medical expenses and lost wages and productivity. This figure is certainly much greater now. Chronic pain can be a very complex problem that can require a multidisciplinary approach to treatment. Chronic pain in the dental setting is most frequetly caused by prolonged Temporomandibular Disorders.

  2. Pattern analysis of patients with temporomandibular disorders resulting from unilateral mastication due to chronic periodontitis

    Science.gov (United States)

    2017-01-01

    Purpose The purpose of the present study was to perform a pattern analysis in patients with temporomandibular disorder (TMD) resulting from unilateral mastication due to chronic periodontitis. Methods Thirty participants with signs or symptoms of TMD who engaged in unilateral mastication due to periodontitis-related discomfort (test group) were selected. Another 30 subjects exhibiting signs or symptoms of TMD resulting from unilateral mastication not due to chronic periodontitis (control group) were also recruited. An interview-based questionnaire was administered, and an examination of the temporomandibular joint (TMJ) with determination of periodontal status was performed. Results The duration of unilateral mastication was significantly longer in the control group than in the test group. There was a significant negative correlation between the duration of unilateral mastication and the Community Periodontal Index score. Using the Research Diagnostic Criteria for TMD (RDC/TMD) axis I algorithms, all the subjects were assigned to 3 main groups. The test group exhibited significantly a higher diagnostic distribution of group III (arthralgia, osteoarthritis, or osteoarthrosis), and in both the test and control groups, the number of diagnoses was larger for the non-chewing side. The control group showed a significantly higher diagnostic distribution of group I (myofacial pain), and in both the test and control groups, the number of diagnoses was larger for the chewing side. Conclusions The results of the present study indicate that unilateral mastication due to chronic periodontitis could induce not only pain but also structural TMJ changes if adequate treatment is not administered and supported within a short time from the onset of the condition. Therefore, immediate treatment of chronic periodontitis is recommended to prevent not only the primary progress of periodontal disease, but also secondary TMJ-related problems. Furthermore, subjects who have suffered chronic

  3. Constitutive activation of a variant of the env-mpl oncogene product by disulfide-linked homodimerization.

    OpenAIRE

    Courtois, G; Bénit, L; Mikaeloff, Y; Pauchard, M; Charon, M; Varlet, P; Gisselbrecht, S

    1995-01-01

    The myeloproliferative leukemia retrovirus (MPLV) has the v-mpl cellular sequences transduced in frame with the deleted and rearranged Friend murine leukemia virus env gene. The resulting env-mpl fusion oncogene is responsible for an acute myeloproliferative disorder induced in mice by MPLV. v-mpl is a truncated form of the c-mpl gene which encodes the receptor for thrombopoietin. We investigated the contribution of the Env-Mpl extracellular domain in the constitutive activation of this trunc...

  4. Familial Risks of Tourette Syndrome and Chronic Tic Disorders. A Population-Based Cohort Study.

    Science.gov (United States)

    Mataix-Cols, David; Isomura, Kayoko; Pérez-Vigil, Ana; Chang, Zheng; Rück, Christian; Larsson, K Johan; Leckman, James F; Serlachius, Eva; Larsson, Henrik; Lichtenstein, Paul

    2015-08-01

    Tic disorders, including Tourette syndrome (TS) and chronic tic disorders (CTDs), are assumed to be strongly familial and heritable. Although gene-searching efforts are well under way, precise estimates of familial risk and heritability are lacking. Previous controlled family studies were small and typically conducted within specialist clinics, resulting in potential ascertainment biases. They were also underpowered to disentangle genetic from environmental factors that contribute to the observed familiality. Twin studies have been either very small or based on parent-reported tics in population-based (nonclinical) twin samples. To provide unbiased estimates of familial risk and heritability of tic disorders at the population level. In this population cohort, multigenerational family study, we used a validated algorithm to identify 4826 individuals diagnosed as having TS or CTDs (76.2% male) in the Swedish National Patient Register from January 1, 1969, through December 31, 2009. We studied risks for TS or CTDs in all biological relatives of probands compared with relatives of unaffected individuals (matched on a 1:10 ratio) from the general population. Structural equation modeling was used to estimate the heritability of tic disorders. The risk for tic disorders among relatives of probands with tic disorders increased proportionally to the degree of genetic relatedness. The risks for first-degree relatives (odds ratio [OR], 18.69; 95% CI, 14.53-24.05) were significantly higher than for second-degree relatives (OR, 4.58; 95% CI, 3.22-6.52) and third-degree relatives (OR, 3.07; 95% CI, 2.08-4.51). First-degree relatives at similar genetic distances (eg, parents, siblings, and offspring) had similar risks for tic disorders despite different degrees of shared environment. The risks for full siblings (50% genetic similarity; OR, 17.68; 95% CI, 12.90-24.23) were significantly higher than those for maternal half siblings (25% genetic similarity; OR, 4.41; 95

  5. Treatment Strategies for Chronic Cases

    Directory of Open Access Journals (Sweden)

    Susan M Lord

    2003-01-01

    Full Text Available The treatment of chronic somatic pain, including pain referred to the head, neck, shoulder girdle and upper limb from somatic structures, is addressed. Levels of evidence for the various treatments that have been prescribed for chronic whiplash associated disorders are considered. The challenge to find a treatment strategy for chronic pain after whiplash that completely relieves the condition and prevents its sequelae is reviewed.

  6. Chronic toxicity risk after radiotherapy for patients with systemic sclerosis (systemic scleroderma) or systemic lupus erythematosus: Association with connective tissue disorder severity

    International Nuclear Information System (INIS)

    Gold, Douglas G.; Miller, Robert C.; Pinn, Melva E.; Osborn, Thomas G.; Petersen, Ivy A.; Brown, Paul D.

    2008-01-01

    No method reliably identifies which patients with connective tissue disorders are at greatest risk of radiotherapy-related complications. Building on our prior experience, we postulated that disease severity, as measured by the number of organ systems involved, may predict chronic radiation toxicity risk

  7. Elevated [11C]-D-Deprenyl Uptake in Chronic Whiplash Associated Disorder Suggests Persistent Musculoskeletal Inflammation

    Science.gov (United States)

    Linnman, Clas; Appel, Lieuwe; Fredrikson, Mats; Gordh, Torsten; Söderlund, Anne; Långström, Bengt; Engler, Henry

    2011-01-01

    There are few diagnostic tools for chronic musculoskeletal pain as structural imaging methods seldom reveal pathological alterations. This is especially true for Whiplash Associated Disorder, for which physical signs of persistent injuries to the neck have yet to be established. Here, we sought to visualize inflammatory processes in the neck region by means Positron Emission Tomography using the tracer 11C-D-deprenyl, a potential marker for inflammation. Twenty-two patients with enduring pain after a rear impact car accident (Whiplash Associated Disorder grade II) and 14 healthy controls were investigated. Patients displayed significantly elevated tracer uptake in the neck, particularly in regions around the spineous process of the second cervical vertebra. This suggests that whiplash patients have signs of local persistent peripheral tissue inflammation, which may potentially serve as a diagnostic biomarker. The present investigation demonstrates that painful processes in the periphery can be objectively visualized and quantified with PET and that 11C-D-deprenyl is a promising tracer for these purposes. PMID:21541010

  8. Bipolar disorder: an overview

    African Journals Online (AJOL)

    manic-depressive disorder, is a chronic disorder characterised by abnormal mood ... of onset, family history, atypical features and mixed symptoms. Screening tools .... has been associated with mood irritability, anxiety, mania and psychosis.

  9. Elevated [11C]-D-deprenyl uptake in chronic Whiplash Associated Disorder suggests persistent musculoskeletal inflammation.

    Directory of Open Access Journals (Sweden)

    Clas Linnman

    Full Text Available There are few diagnostic tools for chronic musculoskeletal pain as structural imaging methods seldom reveal pathological alterations. This is especially true for Whiplash Associated Disorder, for which physical signs of persistent injuries to the neck have yet to be established. Here, we sought to visualize inflammatory processes in the neck region by means Positron Emission Tomography using the tracer (11C-D-deprenyl, a potential marker for inflammation. Twenty-two patients with enduring pain after a rear impact car accident (Whiplash Associated Disorder grade II and 14 healthy controls were investigated. Patients displayed significantly elevated tracer uptake in the neck, particularly in regions around the spineous process of the second cervical vertebra. This suggests that whiplash patients have signs of local persistent peripheral tissue inflammation, which may potentially serve as a diagnostic biomarker. The present investigation demonstrates that painful processes in the periphery can be objectively visualized and quantified with PET and that (11C-D-deprenyl is a promising tracer for these purposes.

  10. Psychosocial Intervention for Young Children With Chronic Tics

    Science.gov (United States)

    2018-06-18

    Tourette's Syndrome; Tourette's Disorder; Tourette's Disease; Tourette Disorder; Tourette Disease; Tic Disorder, Combined Vocal and Multiple Motor; Multiple Motor and Vocal Tic Disorder, Combined; Gilles de La Tourette's Disease; Gilles de la Tourette Syndrome; Gilles De La Tourette's Syndrome; Combined Vocal and Multiple Motor Tic Disorder; Combined Multiple Motor and Vocal Tic Disorder; Chronic Motor and Vocal Tic Disorder

  11. Hydroxyurea for Treatment of Nephrotic Syndrome Associated With Polycythemia Vera.

    Science.gov (United States)

    Hundemer, Gregory L; Rosales, Ivy A; Chen, Yi-Bin; Colvin, Robert B; Tolkoff-Rubin, Nina E

    2016-09-01

    Myeloproliferative disorders are a rare cause of focal segmental glomerulosclerosis (FSGS), although the mechanism is unclear. Hydroxyurea is commonly used in these disorders for its cytoreductive properties; however, the effect of this treatment on proteinuria or kidney function remains unclear in cases of myeloproliferative disorder-associated FSGS. We describe the clinical course of a patient with polycythemia vera and nephrotic-range proteinuria, demonstrated to have FSGS on biopsy. The patient had a distant history of granulomatosis with polyangiitis (Wegener's), for which he routinely had his kidney function and proteinuria measured, allowing for early detection of nephrotic syndrome soon after being diagnosed with polycythemia vera. Treatment with hydroxyurea resulted in rapid improvement in proteinuria that correlated with a decrease in hematocrit. This response was replicated 2 additional times when the patient was taken off and then restarted on hydroxyurea therapy. He now maintains a steady dose of hydroxyurea with favorable kidney measures (proteinuria with <1g/d of protein excretion and serum creatinine of 1.27mg/dL [corresponding to estimated glomerular filtration rate of 56mL/min/1.73 m(2)]). This case suggests that early screening and treatment for myeloproliferative disorder-associated FSGS may lead to improved long-standing kidney function. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  12. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder

    DEFF Research Database (Denmark)

    Abdulkadir, Mohamed; Tischfield, Jay A; King, Robert A

    2016-01-01

    -deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1113 participants from the Tourette International...... Collaborative Genetics study. This study included 586 participants with a chronic tic disorder and 527 unaffected family controls. We controlled for age and sex differences by creating propensity score matched subsamples for both case-control and within-case analyses. We found that premature birth (OR = 1.......72) and morning sickness requiring medical attention (OR = 2.57) were associated with the presence of a chronic tic disorder. Also, the total number of pre- and perinatal complications was higher in those with a tic disorder (OR = 1.07). Furthermore, neonatal complications were related to the presence (OR = 1...

  13. Lifestyle in progression from hypertensive disorders of pregnancy to chronic hypertension in Nurses' Health Study II: observational cohort study.

    Science.gov (United States)

    Timpka, Simon; Stuart, Jennifer J; Tanz, Lauren J; Rimm, Eric B; Franks, Paul W; Rich-Edwards, Janet W

    2017-07-12

    Objectives  To study the association between lifestyle risk factors and chronic hypertension by history of hypertensive disorders of pregnancy (HDP: gestational hypertension and pre-eclampsia) and investigate the extent to which these risk factors modify the association between HDP and chronic hypertension. Design  Prospective cohort study. Setting  Nurses' Health Study II (1991-2013). Participants  54 588 parous women aged 32 to 59 years with data on reproductive history and without previous chronic hypertension, stroke, or myocardial infarction. Main outcome measure  Chronic hypertension diagnosed by a physician and indicated through nurse participant self report. Multivariable Cox proportional hazards models were used to investigate the development of chronic hypertension contingent on history of HDP and four lifestyle risk factors: post-pregnancy body mass index, physical activity, adherence to the Dietary Approaches to Stop Hypertension (DASH) diet, and dietary sodium/potassium intake. Potential effect modification (interaction) between each lifestyle factor and previous HDP was evaluated with the relative excess risk due to interaction. Results  10% (n=5520) of women had a history of HDP at baseline. 13 971 cases of chronic hypertension occurred during 689 988 person years of follow-up. Being overweight or obese was the only lifestyle factor consistently associated with higher risk of chronic hypertension. Higher body mass index, in particular, also increased the risk of chronic hypertension associated with history of HDP (relative excess risk due to interaction Psodium/potassium intake on the association between HDP and chronic hypertension. Conclusion  This study suggests that the risk of chronic hypertension after HDP might be markedly reduced by adherence to a beneficial lifestyle. Compared with women without a history of HDP, keeping a healthy weight seems to be especially important with such a history.

  14. Analysis of Chronic Temporomandibular Disorders Based on the Latest Diagnostic Criteria

    Directory of Open Access Journals (Sweden)

    Svechtarov V.

    2015-05-01

    Full Text Available The objective of this study is to analyze the distribution of the most common diagnoses observed in patients with chronic temporomandibular disorders, based on the new diagnostic criteria (DC/TMD adopted in 2014. The previous Research Diagnostic Criteria (RDC/TMD adopted in 1992, consisted of three main groups of eight diagnostic subgroups and is currently transformed into two main groups and twelve subgroups, respectively. All subgroups correspond to the nomenclature of the ICD-10. The new clinical diagnostic indices are also modified. The analysis showed a prevalence of Pain-Related TMD compared with that of intra-articular disorders in ratio 57.89% to 42.10%. In Pain-Related TMD arthralgia was represented in 55% of cases; local myalgia - in 12%, myofascial pain - in 18%, myofascial pain with referral - in 14%, headache attributed to TMD - in 1%. In Intra-articular TMD disc displacement with reduction was found in 23% of the cases, disc displacement with reduction with intermittent locking - in 3%, disc displacement without reduction with limited opening - in 25%, disc displacement without reduction and without limited opening - in 8%. Degenerative diseases were found in 14.28%, and hypermobility and subluxations - in 26.98%. These analyzes differ and can only partly be compared with previous analyzes based on RDC system. The changes in the diagnostic criteria require new clinical studies in order to refine the picture of temporomandibular pathology in accordance with the modern views on the matter.

  15. Impact of chronic Posttraumatic Stress Disorder on the Quality of life of war survivors.

    Science.gov (United States)

    Bravo-Mehmedbasić, Alma; Kucukalić, Abdulah; Kulenović, Alma Dzubur; Suljić, Enra

    2010-09-01

    Research data from studies of functional neuroanatomy and neurochemistry indicate various dysfunctions in certain areas of the brain in individuals who suffer from chronic Posttraumatic Stress Disorder. These abnormalities are involved in the evolution of symptoms of PTSD, deterioration of cognitive functions and decreased quality of life of the survivors. The intensity of these symptoms is in direct correlation with the degree of dysfunction in the central nervous system. The aim of our study, was to evaluate the subjective perception of the Quality of life in subjects suffering from chronic PTSD and to compare prior to treatment results to results three and six months after receiving therapy, as well as to analyze whether perception of the Quality of life change related to treatment. The study was conducted at the Psychiatric Clinic of the Sarajevo University Clinical Center. The sample consisted of 100 male persons, with war trauma experiences, whose age range was between 35 and 60 years, who were seeking treatment at the Psychiatric Clinic, University of Sarajevo Clinical Center and met the criteria for the diagnosis of chronic PTSD (Posttraumatic Stress Disorder) according to ICD-10. (International Statistical Classification of Diseases and Related Health Problems, 10th Revision). The exclusion criterion was prior psychiatric illness (traumatization before the war) and less than 8 years of education. All subjects received out-patient treatment. Their treatment involved psychopharmacological and psychotherapeutic therapy. The subjects were assessed using the following instruments: Sociodemographic Questionnaire designed by the authors for registering the social and demographic characteristics of the subjects (age, years of education, current employment, and socioeconomic status) and Manchester Quality of Life Scale (MANSA) as a self-report scale. The subjects were assessed prior to treatment, and three and six months after beginning the treatment (follow

  16. Vitamin D, Phosphate and Fibroblast Growth Factor 23: A role in the pathogenesis and management of Chronic Kidney Disease and Chronic Kidney Disease Mineral and Bone Disorder

    OpenAIRE

    Damasiewicz, Matthew John

    2017-01-01

    Chronic kidney disease (CKD) is defined by the presence of proteinuria or decreased kidney function, with a prevalence of 10-15% in the adult population. CKD can progress to end-stage kidney disease (ESKD) and is associated with progressive abnormalities of bone and mineral metabolism, defined as CKD mineral and bone disorder (CKD-MBD). The use of vitamin D in CKD, the optimal level for initiating treatment and the use of current and novel biomarkers in the management of ...

  17. Recent Changes in Chronic Kidney Disease-Mineral and Bone Disorders and Associated Fractures After Kidney Transplantation.

    Science.gov (United States)

    Perrin, Peggy; Kiener, Clotilde; Javier, Rose-Marie; Braun, Laura; Cognard, Noelle; Gautier-Vargas, Gabriela; Heibel, Francoise; Muller, Clotilde; Olagne, Jerome; Moulin, Bruno; Ohlmann, Sophie

    2017-08-01

    The management of chronic kidney disease-mineral and bone disorders has recently changed. We investigated the modifications of chronic kidney disease-mineral and bone disorder with a special focus on the incidence of fractures in the first year after kidney transplantation (KT). We retrospectively compared 2 groups of patients who consecutively underwent transplantation at our center 5 years from each other. Group 1 consisted of patients (n = 152) transplanted between 2004 and 2006, whereas patients in group 2 (n = 137) underwent KT between 2009 and 2011. During the end-stage renal disease phase at the time of transplant, cinacalcet, and native vitamin D were used significantly more frequently in group 2. Median intact parathyroid hormone levels were lower and severe hyperparathyroidism decreased significantly. Vitamin D deficiency dropped from 64% to 20%. After transplantation, persistent hyperparathyroidism (parathyroid hormone > 130 ng/L) and bone turnover markers were significantly reduced in group 2. Native vitamin D supplementation increased over time, whereas the use of active vitamin D was unchanged. The 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels were significantly higher. The fracture incidence at 1 year decreased significantly (3.1% vs 9.1%; P = 0.047). No steroid sparing was observed in group 2. Bisphosphonates after KT were more frequently used in group 2. Recent changes in clinical practice are associated with reductions in pretransplant and posttransplant hyperparathyroidism, vitamin D deficiency, and fracture risk after KT.

  18. Chronic pelvic floor dysfunction.

    Science.gov (United States)

    Hartmann, Dee; Sarton, Julie

    2014-10-01

    The successful treatment of women with vestibulodynia and its associated chronic pelvic floor dysfunctions requires interventions that address a broad field of possible pain contributors. Pelvic floor muscle hypertonicity was implicated in the mid-1990s as a trigger of major chronic vulvar pain. Painful bladder syndrome, irritable bowel syndrome, fibromyalgia, and temporomandibular jaw disorder are known common comorbidities that can cause a host of associated muscular, visceral, bony, and fascial dysfunctions. It appears that normalizing all of those disorders plays a pivotal role in reducing complaints of chronic vulvar pain and sexual dysfunction. Though the studies have yet to prove a specific protocol, physical therapists trained in pelvic dysfunction are reporting success with restoring tissue normalcy and reducing vulvar and sexual pain. A review of pelvic anatomy and common findings are presented along with suggested physical therapy management. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Variables Associated With Tic Exacerbation in Children With Chronic Tic Disorders.

    Science.gov (United States)

    Himle, Michael B; Capriotti, Matthew R; Hayes, Loran P; Ramanujam, Krishnapriya; Scahill, Lawrence; Sukhodolsky, Denis G; Wilhelm, Sabine; Deckersbach, Thilo; Peterson, Alan L; Specht, Matt W; Walkup, John T; Chang, Susanna; Piacentini, John

    2014-03-01

    Research has shown that motor and vocal tics fluctuate in frequency, intensity, and form in response to environmental and contextual cues. Behavioral models have proposed that some of the variation in tics may reflect context-dependent interactive learning processes such that once tics are performed, they are influenced by environmental contingencies. The current study describes the results of a function-based assessment of tics (FBAT) from a recently completed study comparing Comprehensive Behavioral Intervention for Tics (CBIT) with supportive psychotherapy. The current study describes the frequency with which antecedent and consequence variables were reported to exacerbate tics and the relationships between these functional variables and sample baseline characteristics, comorbidities, and measures of tic severity. Results showed that tic-exacerbating antecedents and consequences were nearly ubiquitous in a sample of children with chronic tic disorder. In addition, functional variables were related to baseline measures of comorbid internalizing symptoms and specific measures of tic severity. © The Author(s) 2014.

  20. Preparatory catheter-directed thrombolysis together with assisted endovascular angioplasty for the treatment of chronic occlusive arterial disorders of lower extremities

    International Nuclear Information System (INIS)

    Zhang Fuxian; Zhang Changming; Hu Lu; Feng Yaping; Liang Gangzhu; Zhang Huan

    2010-01-01

    Objective: To evaluate the safety and efficacy of preparatory catheter-directed thrombolysis together with assisted endovascular angioplasty in treating chronic occlusive arterial disorders of lower extremities. Methods: From January 2008 to December 2009, preparatory catheter-directed thrombolysis together with assisted endovascular angioplasty was performed in 12 patients with chronic occlusive arterial disorders of lower extremities, including 8 males and 4 females with an average age of 56.3 years (within a range of 38-71 years). All 12 patients had a history of chronic ischemia of lower limb,the mean ill duration was 19.3 months (3-48 months). All patients complained of intermittent claudication with a mean distance of 125 m (50-200 m). Rest pain occurred in 5 patients (42%), toe necrosis was seen in 3 patients (25%) and critically ischemic limb in 4 patients (33%). Ankle-brachial index (ABI) was 0.00 0.65 with a mean of 0.33. In all 12 patients catheter-directed thrombolysis with rt-PA or urokinase was initially carried out, which was followed by endovascular angioplasty (balloon dilatation or stent placement) in two days. The clinical data and the therapeutic results were analyzed. Results: Technical success was achieved in all 12 patients. The mean time of thrombolysis was 48 hours. Of 12 patients, rt-PA was employed in 4 and urokinase in 8. The occluded length of the diseased arteries before the treatment was 60-150 mm, with a mean of 80 mm. After catheter-directed thrombolysis,the occluded length decreased to 10-50 mm (mean of 30 mm). Endovascular angioplasty was successfully completed in all patients after thrombolysis therapy. Postoperative ABI was 0.64-1.0 (mean of 0.86), which was increased by 0.53 when compared to the preoperative figure. During the perioperative period neither complications needed to be surgically treated nor death occurred. All patients were followed up, and the arteries remained open after one year in all cases. Conclusion