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https://www.readbyqxmd.com/read/28527473/presence-of-new-mutations-in-the-tp53-gene-in-patients-with-low-risk-myelodysplastic-syndrome-two-case-reports
#1
Fernando Barroso Duarte, Romélia Pinheiro Gonçalves Lemes, Talyta Ellen de Jesus Dos Santos, Maritza Cavalcante Barbosa, João Paulo Leitão de Vasconcelos, Francisco Dário Rocha-Filho, Ilana Zalcberg, Diego Coutinho, Monalisa Feliciano Figueiredo, Luciana Barros Carlos, Paulo Roberto Leitão de Vasconcelos
BACKGROUND: Myelodysplastic syndromes are heterogeneous disorders. Patients with myelodysplastic syndrome disease often have ineffective hematopoiesis, cytopenias, blood cell dysplasia in one or more cell types, and are at high risk for developing acute myeloid leukemia. In myelodysplastic syndrome, mutations of TP53 gene are usually associated with complex karyotype and confer a worse prognosis. In the present study, two mutations in this gene are presented and discussed with the clinical evolution of the patients...
May 21, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28525589/bone-marrow-involvement-in-systemic-lupus-erythematosus
#2
Emilie Chalayer, Nathalie Costedoat-Chalumeau, Odile Beyne-Rauzy, Jacques Ninet, Stephane Durupt, Jacques Tebib, Bouchra Asli, Olivier Lambotte, Martine Ffrench, Christian Vasselon, Pascal Cathébras
BACKGROUND: Besides peripheral cytopenias, bone marrow abnormalities, such as fibrosis, pure red cell aplasia, and aplastic anemia have been reported in patients with systemic lupus erythematosus (SLE), suggesting that bone marrow may be a target organ in SLE. Our objective was to describe this bone marrow involvement. METHODS: This registry is a nationwide retrospective study. Centers provided data concerning medical history, SLE manifestations, type of hematologic disorder, treatments and outcome...
May 19, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28512785/clinical-immunological-molecular-analyses-and-outcomes-of-iranian-patients-with-lrba-deficiency-a-longitudinal-study
#3
Gholamreza Azizi, Hassan Abolhassani, Seyed Alireza Mahdaviani, Zahra Chavoshzadeh, Peyman Eshghi, Reza Yazdani, Fatemeh Kiaee, Mohammadreza Shaghaghi, Javad Mohammadi, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity and enteropathy. METHODS: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory and molecular data were collected. RESULTS: Hypogammaglobulinemia were reported in 14 (82...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28505305/efficacy-and-safety-of-ledipasvir-sofosbuvir-for-the-treatment-of-chronic-hepatitis-c-in-persons-with-sickle-cell-disease
#4
Juhi Moon, Robert H Hyland, Fangqiu Zhang, Diana M Brainard, Sophie Lanzkron, John G McHutchison, Mark Sulkowski
Patients with sickle cell disease are at high risk for chronic hepatitis C infection. Prior treatment has been limited due to the use of ribavirin causing hemolytic anemia and interferon causing cytopenias. We demonstrate the safety and efficacy of fixed dose combination, ledipasvir and sofosbuvir for 12 weeks in this population.
May 13, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28502939/myelodysplastic-syndrome-developing-presacral-extramedullary-hematopoiesis-with-atypical-mri-findings
#5
Haruki Sawada, Takakazu Higuchi, Ryosuke Koyamada, Sadamu Okada
A 64-year-old woman was diagnosed to have refractory cytopenia with multilineage dysplasia (RCMD) including an increased number of sideroblasts in the bone marrow (BM). Computed tomography (CT) revealed a presacral mass which showed iso- or high-intensity signals according to T1-weighted and hypo-intensity signals on T2-weighted magnetic resonance imaging (MRI). CT-guided biopsy revealed the presence of hematopoietic tissue with features that correlated with the BM findings. While the formation of extramedullary hematopoiesis in the presacral area is rare, it is important to differentiate it from other parasacral tumors even though such differentiation is often difficult...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28500507/impact-of-severe-hematological-abnormalities-in-the-outcome-of-hospitalized-patients-with-influenza-virus-infection
#6
A Lalueza, H Trujillo, J Laureiro, B Ayuso, P Hernández-Jiménez, C Castillo, M Torres, D Folgueira, O Madrid, C Díaz-Pedroche, E Arrieta, C Arévalo, C Lumbreras
Although hematological abnormalities have been described among patients with influenza virus infection, little is known about their impact on the outcome of the patients. The aim of this study was to assess the frequency and clinical impact of severe hematological abnormalities in patients with confirmed influenza virus infection. This was an observational retrospective study including all adult patients with diagnosis of influenza virus infection hospitalized from January to May 2016 in our institution. Influenza virus infection was diagnosed by means of rRT-PCR assay performed on respiratory samples...
May 13, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28499585/multipotent-adult-progenitor-cells-improve-the-hematopoietic-function-in-myelodysplasia
#7
Valerie D Roobrouck, Esther Wolfs, Michel Delforge, Dorien Broekaert, Soumen Chakraborty, Kathleen Sels, Thomas Vanwelden, Bryan Holvoet, Larissa Lhoest, Satish Khurana, Shubham Pandey, Chloé Hoornaert, Peter Ponsaerts, Tom Struys, Nancy Boeckx, Peter Vandenberghe, Christophe M Deroose, Catherine M Verfaillie
BACKGROUND AIMS: Myelodysplastic syndromes (MDS) are a group of clonal stem cell disorders affecting the normal hematopoietic differentiation process and leading to abnormal maturation and differentiation of all blood cell lineages. Treatment options are limited, and there is an unmet medical need for effective therapies for patients with severe cytopenias. METHODS: We demonstrate that multipotent adult progenitor cells (MAPC) improve the function of hematopoietic progenitors derived from human MDS bone marrow (BM) by significantly increasing the frequency of primitive progenitors as well as the number of myeloid colonies...
June 2017: Cytotherapy
https://www.readbyqxmd.com/read/28495911/intratumoral-injection-of-hsv1716-an-oncolytic-herpes-virus-is-safe-and-shows-evidence-of-immune-response-and-viral-replication-in-young-cancer-patients
#8
Keri A Streby, James I Geller, Mark A Currier, Patrick S Warren, John M Racadio, Alexander J Towbin, Michele R Vaughan, Melinda Triplet, Kristy Ott-Napier, Devon J Dishman, Lori R Backus, Beth Stockman, Marianne Brunner, Kathleen Simpson, Robert Spavin, Joe Conner, Timothy P Cripe
Purpose: HSV1716 is an oncolytic herpes simplex virus-1 (HSV-1) studied in adults via injection into the brain and superficial tumors. To determine the safety of administering HSV1716 to pediatric patients with cancer, we conducted a phase I trial of image-guided injection in young patients with relapsed or refractory extracranial cancers.Experimental Design: We delivered a single dose of 10(5) to 10(7) infectious units of HSV1716 via computed tomography-guided intratumoral injection and measured tumor responses by imaging...
May 11, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28494931/hemophagocytic-lymphohistiocytosis-in-acute-african-swine-fever-clinic
#9
Z R Karalyan, Z R Ter-Pogossyan, N Yu Karalyan, Z B Semerjyan, M R Tatoyan, S A Karapetyan, E M Karalova
INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) usually has been defined as the combination of a proliferation of cytologically benign, actively phagocytic macrophages in bone marrow, spleen, lymph nodes, etc. in association with fever, cytopenia, splenomegaly, and hypertriglyceridemia. HLH is often triggered by viral infection. The aim of this study was to ascertain the features of HLH involvement in African swine fever virus (ASFV) (genotype II) pathogenesis. METHODS: The serum levels of macrophage colony-stimulating factor (MCSF) and granulocyte-macrophage colony-stimulating factor (GMCSF), as well as the histological constitution (for hemophagocytic macrophages detection) of various organs of pigs infected with ASFV genotype II were investigated...
May 2017: Veterinary Immunology and Immunopathology
https://www.readbyqxmd.com/read/28493328/screening-of-181-patients-with-antibody-deficiency-for-deficiency-of-adenosine-deaminase-2-sheds-new-light-on-the-disease-in-adulthood
#10
Johanna Schepp, Michele Proietti, Natalie Frede, Mary Buchta, Katrin Hübscher, Jessica Rojas Restrepo, Sigune Goldacker, Klaus Warnatz, Jana Pachlopnik Schmid, Andrea Duppenthaler, Vassilios Lougaris, Ignacio Uriarte, Susan Kelly, Michael Hershfield, Bodo Grimbacher
OBJECTIVE: We aimed to test the relevance of Deficiency of Adenosine Deaminase 2 in patients with antibody deficiency and describe the clinical picture of the disease in adulthood. METHODS: We screened for DADA2 in a cohort of 181 patients with antibody deficiency with and without vascular lesions by the means of Next-Generation-Sequencing and targeted Sanger Sequencing. All mutations were confirmed by determining the ADA2 enzymatic activity levels in dried plasma spots...
May 10, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28491138/clinicohematological-and-cytogenetic-profile-of-myelodysplastic-syndromes-in-pakistan-compare-and-contrast
#11
Nida Anwar, Aisha Arshad, Muhammad Nadeem, Sana Khurram, Naveena Fatima, Sumaira Sharif, Saira Shan, Tahir Shamsi
BACKGROUND: Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory tool in diagnosis are done less frequently due to limited availability of this technique in Pakistan. The aim of the study was to study baseline clinicohematological and cytogenetic characteristics of patients presenting with de novo MDS. RESULTS: A retrospective cross sectional study was done at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan from 2010 to 2016...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28489271/successful-treatment-of-kshv-inflammatory-cytokine-syndrome-kics-after-kidney-liver-transplant-correlations-with-hhv8-mirnome-and-specific-t-cell-response
#12
Alessandra Mularoni, Alessia Gallo, Giovanni Riva, Patrizia Barozzi, Monica Miele, Giovanni Cardinale, Giovanni Vizzini, Riccardo Volpes, Paolo Grossi, Daniele Di Carlo, Angelo Luca, Tommaso Trenti, Mario Luppi, Pier Giulio Conaldi
In post-transplant patients, HHV-8/KSHV infection is known to cause aggressive tumors, as well as severe non-neoplastic complications. These latter syndromes are driven by HHV-8/KSHV lytic reactivations and related hyper-inflammatory host responses, typically characterized by high viral loads, elevated levels of cytokines and other inflammation biomarkers, cytopenia, organ failure, high fever, and worsening conditions (with no evidence of B-cell neoplasias). These disorders are associated with a high mortality rate, often due to lack of prompt diagnosis, effective therapeutic approaches, and adequate follow up...
May 10, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28486748/telomere-length-is-an-independent-prognostic-marker-in-mds-but-not-in-de-novo-aml
#13
Jenna Williams, Nicole H Heppel, Bethan Britt-Compton, Julia W Grimstead, Rhiannon E Jones, Sudhir Tauro, David T Bowen, Steven Knapper, Michael Groves, Robert K Hills, Chris Pepper, Duncan M Baird, Chris Fegan
Telomere dysfunction is implicated in the generation of large-scale genomic rearrangements that drive progression to malignancy. In this study we used high-resolution single telomere length analysis (STELA) to examine the potential role of telomere dysfunction in 80 myelodysplastic syndrome (MDS) and 95 de novo acute myeloid leukaemia (AML) patients. Despite the MDS cohort being older, they had significantly longer telomeres than the AML cohort (P < 0·0001) where telomere length was also significantly shorter in younger AML patients (age <60 years) (P = 0·02) and in FLT3 internal tandem duplication-mutated AML patients (P = 0·03)...
May 9, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28483372/role-of-plasma-cells-in-waldenstr%C3%A3-m-macroglobulinaemia
#14
REVIEW
Ali El-Ayoubi, James Q Wang, Nadine Hein, Dipti Talaulikar
Waldenström macroglobulinaemia (WM) is an indolent mature B cell lymphoma characterised by an infiltrate of heterogeneous B cells and hypersecretion of IgM. There are two distinct cellular populations that can be distinguished on morphology and immunophenotyping within the bone marrow. The predominant lymphoplasmacytic compartment arises at an earlier stage in ontogeny, and is responsible for the cytopenias noted during the symptomatic phase of the disease. This population is ably targeted by B cell immunodepletion...
May 5, 2017: Pathology
https://www.readbyqxmd.com/read/28478821/lorenz-system-in-the-thermodynamic-modelling-of-leukaemia-malignancy
#15
Igor Alexeev
The core idea of the proposed thermodynamic modelling of malignancy in leukaemia is entropy arising within normal haematopoiesis. Mathematically its description is supposed to be similar to the Lorenz system of ordinary differential equations for simplified processes of heat flow in fluids. The hypothetical model provides a description of remission and relapse in leukaemia as two hierarchical and qualitatively different states of normal haematopoiesis with their own phase spaces. Phase space transition is possible through pitchfork bifurcation, which is considered the common symmetrical scenario for relapse, induced remission and the spontaneous remission of leukaemia...
May 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28475294/refractory-cytopenias-secondary-to-copper-deficiency-in-children-receiving-exclusive-jejunal-nutrition
#16
Amanda E Jacobson, Samir B Kahwash, Anjulika Chawla
Copper deficiency is a known cause of anemia and neutropenia that is easily remedied with copper supplementation. Copper is primarily absorbed in the stomach and proximal duodenum, so patients receiving enteral nutrition via methods that bypass this critical region may be at increased risk for copper deficiency. In pediatrics, postpyloric enteral feeding is increasingly utilized to overcome problems related to aspiration, severe reflux, poor gastric motility, and gastric outlet obstruction. However, little is known about the prevalence of copper deficiency in this population...
May 5, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28472728/new-polymorphisms-of-xeroderma-pigmentosum-dna-repair-genes-in-myelodysplastic-syndrome
#17
Sabrina Pinheiro Santiago, Howard Lopes Ribeiro Junior, Juliana Cordeiro de Sousa, Daniela de Paula Borges, Roberta Taiane Germano de Oliveira, Izabelle Rocha Farias, Marília Braga Costa, Allan Rodrigo Soares Maia, Mayumi da Nóbrega Ito, Silvia Maria Meira Magalhães, Ronald Feitosa Pinheiro
The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. To assess the functional role between these polymorphisms and MDS, we evaluated 189 samples stratified in two groups: 95 bone marrow samples from MDS patients and 94 from healthy elderly volunteers used as controls. Genotypes for all polymorphisms were identified in DNA samples in an allelic discrimination experiment by real-time polymerase chain reaction (qPCR)...
April 1, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28469947/successful-long-term-use-of-eltrombopag-in-a-patient-with-refractory-severe-thrombocytopenia-associated-with-chronic-lymphocytic-leukemia-that-allowed-oral-anticoagulant-treatment-for-severe-cardiomyopathy
#18
Juárez Salcedo Luis Miguel, Gil-Fernández Juan José
Autoimmune cytopenias (AICs) are frequently associated with chronic lymphocytic leukemia (CLL). The most common of these AICs is autoimmune hemolytic anemia (AIHA); the second most is immune thrombocytopenia (ITP). Here, we report on a patient with CLL-associated ITP, with thrombocytopenia refractory to corticosteroids and intravenous immunoglobulins, in which continuous oral treatment with Eltrombopag allowed initiation and maintenance of an oral anticoagulation treatment with Acenocoumarol that was indicated because of a severe arrhythmogenic cardiomyopathy...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28468677/diagnosis-features-of-pediatric-gaucher-disease-patients-in-the-era-of-enzymatic-therapy-a-national-base-study-from-the-spanish-registry-of-gaucher-disease
#19
Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga, Elena Martin-Hernández, Maria Del Mar O'Callaghan, Alberto Pérez Del Soto, Yolanda Ruiz Del Prado, Ignacio Sancho-Val, Pablo Sanjurjo, Miguel Pocovi, Pilar Giraldo
BACKGROUND: The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complications in pediatric patients. In Spain ERT has been available since 1993 and 386 patients have been included in the Spanish Registry of Gaucher Disease (SpRGD). The aim of this study is to analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients...
May 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28468610/a-case-report-of-novel-mutation-in-prf1-gene-which-causes-familial-autosomal-recessive-hemophagocytic-lymphohistiocytosis
#20
Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi
BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis...
May 3, 2017: BMC Medical Genetics
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