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hematologic disorders

Carles Díez-López, Josep Comín-Colet, José González-Costello
PURPOSE OF REVIEW: Iron overload cardiomyopathy (IOC) is an important predictor of prognosis in a significant number of patients with hereditary hemochromatosis and hematologic diseases. Its prevalence is increasing because of improved treatment strategies, which significantly improve life expectancy. We will review diagnosis, treatment, and recent findings in the field. RECENT FINDINGS: The development of preclinical translational disease models during the last years have helped our understanding of specific disease pathophysiological pathways that might eventually change the outcomes of these patients...
March 14, 2018: Current Opinion in Cardiology
Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga
Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia-pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutation's effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L...
February 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
M Palova, T Szotkowski, A Hlusi, K Indrak, J Navratilova, M Divoka, T Papajik
Primary myelofibrosis (PMF) is a chronic clonal myeloid disorder. Together with essential thrombocythemia (ET) and polycythemia vera (PV), it belongs to a group of Philadelphia chromosome-negative myeloproliferative neoplasms. An integral part of laboratory tests carried out in this disease group is detecting the presence of mutations in the Janus kinase 2 gene at position 617 (JAK2 V617F) and in the gene encoding for the receptor for thrombopoietin (myeloproliferative leukemia virus oncogene, MPL) found in approximately 60% of PMF patients...
2018: Neoplasma
Alexander Röth, Jaroslaw Maciejewski, Jun-Ichi Nishimura, Deepak Jain, Jeffrey I Weitz
OBJECTIVE: Paroxysmal nocturnal hemoglobinuria (PNH) is a severe, life-threatening disorder for which early diagnosis is essential. However, given the rarity of the disease and non-specificity of symptoms, correct diagnosis may be delayed or missed. While various hematologic guidelines note common signs and symptoms associated with PNH, international expert consensus based on real-world clinical experience and an actionable algorithm for non-specialists to facilitate screening and diagnosis are lacking...
March 12, 2018: European Journal of Haematology
Yue Yang, Long Chen, Yuan Jia, Yang Liu, Lei Wen, Yaoxian Liang, Yuan An, Shi Chen, Yin Su, Zhanguo Li
To analyze the clinical spectrum, laboratory characteristics, and outcomes of monoclonal gammopathy (MG) in patients with rheumatic diseases. Screening for the presence of MG was performed in 872 inpatients with rheumatic diseases from January 2010 to July 2017. A total of 41 patients were enrolled. Their clinical and biological features in addition to outcomes were described. For each patient with primary Sjögren syndrome (pSS), 2 age- and sex-matched pSS patients without MG were selected as controls. Risk factors for the presence of MG and malignant hematological neoplasias were assessed...
March 13, 2018: Clinical Rheumatology
Suparak Para, Punchalee Mungkalasut, Makamas Chanda, Issarang Nuchprayoon, Srivicha Krudsood, Chalisa Louicharoen Cheepsunthorn
Background: The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against Plasmodium falciparum malaria has been well established. However, there is much less understanding of the effect of α-thalassemia against P. vivax . Here, we aimed to investigate the proportion of α-thalassemia including the impact of α-thalassemia and HbE on the parasitemia of P. vivax in Southeast Asian malaria patients in Thailand. Methods: A total of 210 malaria patients, admitted to the Hospital for Tropical Diseases, Thailand during 2011-2012, consisting of 159 Myanmeses, 13 Karens, 26 Thais, 3 Mons, 3 Laotians, and 6 Cambodians were recruited...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Muneyoshi Kimura, Hideki Araoka, Hisashi Yamamoto, Shigeki Nakamura, Minoru Nagi, Satoshi Yamagoe, Yoshitsugu Miyazaki, Sho Ogura, Takashi Mitsuki, Mitsuhiro Yuasa, Daisuke Kaji, Kosei Kageyama, Aya Nishida, Yuki Taya, Hiroshi Shimazu, Kazuya Ishiwata, Shinsuke Takagi, Go Yamamoto, Yuki Asano-Mori, Naoyuki Uchida, Atsushi Wake, Shuichi Taniguchi, Akiko Yoneyama
Limited data are available on micafungin breakthrough fungemia (MBF), fungemia that develops on administration of micafungin, in patients with hematological disorders. We reviewed medical and microbiological records of patients with hematological disorders who developed MBF between January 2008 and June 2015. A total of 39 patients with MBF were identified and Candida (30 strains) and non- Candida (9 strains) fungal species were recognized as causative strains. Among 35 stored strains, C. parapsilosis (14 strains), Trichosporon asahii (7 strains), C...
March 12, 2018: Antimicrobial Agents and Chemotherapy
M Colinart-Thomas, V Noël, G Roques, S Gordes-Grosjean, M Abely, C Pluchart
Sickle cell disease, a hemoglobin disorder with autosomal recessive transmission, is one of the most common genetic diseases screened in France. Thanks to early management, 95% of sickle cell patients reach adulthood and require transition from pediatric care to adult care. Through a retrospective study of records from serious sickle cell patients over 17 years old, followed in the hematology-oncology pediatric unit of Reims University Hospital Center in France, we analyzed transition conditions, compared pediatric and adult management, and proposed a plan for transition care...
March 9, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Kunal Gupta, Hongyue Wang, Sanjiv B Amin
The aim of this study was to evaluate the effect of intermittent parenteral copper supplementation (IPC) on serum copper status and biochemical and hematological measures of copper toxicity and deficiency in premature infants with parenteral nutrition (PN)-associated cholestasis (PNAC). We performed a prospective nested observational study in premature infants with PNAC who received IPC after the development of PNAC. Infants with chromosomal disorders, TORCH (toxoplasmosis, parvovirus, syphilis, rubella, cytomegalovirus, herpes, human immunodeficiency virus) infection, metabolic disorder, and/or surgical abnormality of the hepatobiliary system were excluded...
March 12, 2018: Nutrition in Clinical Practice
Francesca Re, Ilenia Manfra, Filomena Russo, Caterina Plenteda, Angelica Spolzino, Elena Follini, Maria Gullo, Claudia Romano, Maria Cristina Baroni, Franco Aversa
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening blood disorder characterized by intravascular hemolysis, thrombosis and bone marrow failure. Acute kidney injury, including acute renal failure, have been reported in patients with PNH. We report the case of a 36-year-old male patient with PNH who developed acute kidney injury following an infection of undetermined diagnosis. Although hemolysis was initially controlled and renal function stabilized following packed red blood cell transfusion and empirical levofloxacin and prednisone, he later experienced recurrent episodes of hemolysis and hematuria requiring monthly red blood cell support...
March 2018: Oxford Medical Case Reports
Tasneem S Alaqzam, Angela C Stanley, Pippa M Simpson, Veronica H Flood, Seema Menon
STUDY OBJECTIVE: This study sought to determine the relationship of bleeding disorders to iron deficiency anemia. Additionally, this study was undertaken to examine all current treatment modalities used in a menorrhagia clinic with respect to heavy menstrual bleeding management to identify the most effective options for menstrual management in the setting of an underlying bleeding disorder. DESIGN, SETTING, PARTICIPANT, INTERVENTION, AND MAIN OUTCOME MEASURES: Retrospective chart review of adolescent <21 years with heavy menstrual bleeding attending a multidisciplinary hematology-adolescent gynecology clinic...
March 7, 2018: Journal of Pediatric and Adolescent Gynecology
Andrew J Cowan, Christopher K Johnson, Edward N Libby
Plasma cell diseases are a class of hematologic diseases that are sometimes present as pre-existing diagnoses prior to organ transplantation, causative factors leading to a need for organ transplantation, or may occur post-transplant as part of the spectrum of post-transplant lymphoproliferative disorders. Herein, we review the most common plasma cell diseases, both as co-existing with other causes of organ failure, but also as a primary underlying cause for organ failure. In many cases, treatment of the underlying clonal disease may be indicated before proceeding with organ transplant...
March 9, 2018: American Journal of Transplantation
Hailian Wang, Wei Ge, Yong Zhuang, Jinqiu Fu, Dong Li, Xiuli Ju
Background: Cord blood transplantation (CBT) can be a life-saving procedure in the treatment of a broad variety of disorders, including hematologic, immune, and genetic diseases. However, delayed platelet recovery hinders the application of CBT. Purpose: The aim of this study was to determine the optimal combination of cytokines to amplify megakaryocyte (Mk). Methods: CB CD34+ cells were obtained by immunomagnetic isolation and amplified under four different cytokine combinations...
January 2018: Journal of Cancer Research and Therapeutics
Caterina Matucci-Cerinic, Vivek Nagaraja, Francesca Prignano, Bashar Kahaleh, Silvia Bellando-Randone
Raynaud's phenomenon (RP) is a functional vascular disorder involving extremities. In his practice, the dermatologist may frequently encounter RP which affects mainly women and is categorized into a primary benign form and a secondary form associated with different diseases (infections, drugs, autoimmune and vascular conditions, hematologic, rheumatologic and endocrinologic disorders). Still today, the differential diagnosis is a clinical challenge. Therefore, a careful history and a physical examination, together with laboratory tests and nailfold capillaroscopy are mandatory...
March 6, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Emre Tekgündüz, Mehmet Yılmaz, Mehmet Ali Erkurt, Ilhami Kiki, Ali Hakan Kaya, Leylagul Kaynar, Inci Alacacioglu, Guven Cetin, Ibrahim Ozarslan, Irfan Kuku, Gulden Sincan, Ozan Salim, Sinem Namdaroglu, Abdullah Karakus, Volkan Karakus, Fevzi Altuntas, Ismail Sari, Gulsum Ozet, Ismet Aydogdu, Vahap Okan, Emin Kaya, Rahsan Yildirim, Esra Yildizhan, Gokhan Ozgur, Osman Ilhami Ozcebe, Bahriye Payzin, Seval Akpinar, Fatih Demirkan
Thrombotic microangiopathies (TMAs) are rare, but life-threatening disorders characterized by microangiopathic hemolytic anemia and thrombocytopenia (MAHAT) associated with multiorgan dysfunction as a result of microvascular thrombosis and tissue ischemia. The differentiation of the etiology is of utmost importance as the pathophysiological basis will dictate the choice of appropriate treatment. We retrospectively evaluated 154 (99 females and 55 males) patients who received therapeutic plasma exchange (TPE) due to a presumptive diagnosis of TMA, who had serum ADAMTS13 activity/anti-ADAMTS13 antibody analysis at the time of hospital admission...
February 20, 2018: Transfusion and Apheresis Science
Ayman W El-Hattab, Mohammed Almannai, V Reid Sutton
Newborn screening programs aim to achieve presymptomatic diagnosis of treatable disorders allowing for early initiation of medical care to prevent or reduce significant morbidity and mortality. Many of the conditions included in the newborn screening panels are inborn errors of metabolism; however, screening for endocrine, hematologic, immunologic, and cardiovascular diseases, and hearing loss is also included in many panels. Newborn screening tests are not diagnostic and therefore diagnostic testing is needed to confirm or exclude the suspected diagnosis...
April 2018: Pediatric Clinics of North America
Koki Sato, Shintaro Kuroda, Tsuyoshi Kobayashi, Seiichi Shimizu, Masahiro Ohira, Hiroyuki Tahara, Kentaro Ide, Teruhisa Fujii, Hideki Ohdan
INTRODUCTION: Although von Willebrand disease (VWD) is a common inherited bleeding disorder, very few cases of surgery in patients with VWD have been reported. PRESENTATION OF CASE: A 77-year-old man was referred to our hospital for treatment of hepatocellular carcinoma (HCC) based on type C chronic hepatitis. He had also been treated for VWD in the hematology department of another hospital. Partial hepatectomy was performed with the administration of factor VIII/von Willebrand factor concentrate just before and after the operation...
February 24, 2018: International Journal of Surgery Case Reports
Maghsood Mehri, Maryam Zarin, Fariba Ardalani, Hossein Najmabadi, Azita Azarkeivan, Maryam Neishabury
Sideroblastic anemias are heterogeneous rare hematological disorders, representing diverse phenotypes. In this study, the genetic cause of congenital, transfusion dependent anemia in four unrelated families consisting of eighteen individuals, with one affected member was investigated. Probands were suspected to rare anemias, including sideroblastic anemia. Whole exome sequencing in probands followed by segregation analysis in families was performed. Two novel frame shift mutations and one previously reported missense mutation in SLC25A38 gene was identified in these families...
February 22, 2018: Blood Cells, Molecules & Diseases
Dorit Verhoeven, Arie Jan Stoppelenburg, Friederike Meyer-Wentrup, Marianne Boes
Primary immunodeficiency disorders (PIDs) convey increased susceptibility to infections and sometimes to malignancies, particularly lymphomas. Such cancer development can be contributed by immune impairments resulting in weakened immunological surveillance against (pre)malignant cells and oncogenic viruses. Molecular defects in PID-patients are therefore being clarified, identifying new targets for innovative immunotherapy. Particularly pediatric cancers are being scrutinized, where over one third of cancer-related deaths is accounted for by leukemia and lymphomas...
February 27, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Lanping Xu, Hu Chen, Jing Chen, Mingzhe Han, He Huang, Yongrong Lai, Daihong Liu, Qifa Liu, Ting Liu, Ming Jiang, Hanyun Ren, Yongping Song, Zimin Sun, Jianmin Wang, Depei Wu, Daobin Zhou, Ping Zou, Kaiyan Liu, Xiaojun Huang
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is widely used to treat malignant hematological neoplasms and non-malignant hematological disorders. Approximately, 5000 allo-HSCT procedures are performed in China annually. Substantial progress has been made in haploidentical HSCT (HID-HSCT), pre-transplantation risk stratification, and donor selection in allo-HSCT, especially after the establishment of the "Beijing Protocol" HID-HSCT system. Transplant indications for selected subgroups in low-risk leukemia or severe aplastic anemia (SAA) differ from those in the Western world...
March 2, 2018: Journal of Hematology & Oncology
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